#Format: diseaseIdgene-symbolgene-id(entrez)HPO-IDHPO-term-name OMIM:220400 KCNQ1 3784 HP:0001664 Torsade de pointes OMIM:220400 KCNQ1 3784 HP:0001645 Sudden cardiac death OMIM:220400 KCNQ1 3784 HP:0001657 Prolonged QT interval OMIM:220400 KCNQ1 3784 HP:0000007 Autosomal recessive inheritance OMIM:220400 KCNQ1 3784 HP:0008527 Congenital sensorineural hearing impairment OMIM:220400 KCNQ1 3784 HP:0001279 Syncope OMIM:255310 SEPN1 57190 HP:0001508 Failure to thrive OMIM:255310 SEPN1 57190 HP:0003121 Limb joint contracture OMIM:255310 SEPN1 57190 HP:0003828 Variable expressivity OMIM:255310 SEPN1 57190 HP:0002938 Lumbar hyperlordosis OMIM:255310 SEPN1 57190 HP:0003577 Congenital onset OMIM:255310 SEPN1 57190 HP:0001374 Congenital hip dislocation OMIM:255310 SEPN1 57190 HP:0011968 Feeding difficulties OMIM:255310 SEPN1 57190 HP:0010628 Facial palsy OMIM:255310 SEPN1 57190 HP:0001612 Weak cry OMIM:255310 SEPN1 57190 HP:0002093 Respiratory insufficiency OMIM:255310 SEPN1 57190 HP:0003687 Centrally nucleated skeletal muscle fibers OMIM:255310 SEPN1 57190 HP:0002015 Dysphagia OMIM:255310 SEPN1 57190 HP:0000218 High palate OMIM:255310 SEPN1 57190 HP:0001319 Neonatal hypotonia OMIM:255310 SEPN1 57190 HP:0003755 Type 1 fibers relatively smaller than type 2 fibers OMIM:255310 SEPN1 57190 HP:0001558 Decreased fetal movement OMIM:255310 SEPN1 57190 HP:0000006 Autosomal dominant inheritance OMIM:255310 SEPN1 57190 HP:0002650 Scoliosis OMIM:255310 SEPN1 57190 HP:0000275 Narrow face OMIM:255310 SEPN1 57190 HP:0000276 Long face OMIM:255310 SEPN1 57190 HP:0003324 Generalized muscle weakness OMIM:255310 SEPN1 57190 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:255310 SEPN1 57190 HP:0001644 Dilated cardiomyopathy OMIM:255310 SEPN1 57190 HP:0000508 Ptosis OMIM:255310 SEPN1 57190 HP:0000602 Ophthalmoplegia OMIM:255310 SEPN1 57190 HP:0003701 Proximal muscle weakness OMIM:255310 SEPN1 57190 HP:0001425 Heterogeneous OMIM:255310 SEPN1 57190 HP:0001283 Bulbar palsy OMIM:255310 ACTA1 58 HP:0001508 Failure to thrive OMIM:255310 ACTA1 58 HP:0003121 Limb joint contracture OMIM:255310 ACTA1 58 HP:0003828 Variable expressivity OMIM:255310 ACTA1 58 HP:0002938 Lumbar hyperlordosis OMIM:255310 ACTA1 58 HP:0003577 Congenital onset OMIM:255310 ACTA1 58 HP:0001374 Congenital hip dislocation OMIM:255310 ACTA1 58 HP:0011968 Feeding difficulties OMIM:255310 ACTA1 58 HP:0010628 Facial palsy OMIM:255310 ACTA1 58 HP:0001612 Weak cry OMIM:255310 ACTA1 58 HP:0002093 Respiratory insufficiency OMIM:255310 ACTA1 58 HP:0003687 Centrally nucleated skeletal muscle fibers OMIM:255310 ACTA1 58 HP:0002015 Dysphagia OMIM:255310 ACTA1 58 HP:0000218 High palate OMIM:255310 ACTA1 58 HP:0001319 Neonatal hypotonia OMIM:255310 ACTA1 58 HP:0003755 Type 1 fibers relatively smaller than type 2 fibers OMIM:255310 ACTA1 58 HP:0001558 Decreased fetal movement OMIM:255310 ACTA1 58 HP:0000006 Autosomal dominant inheritance OMIM:255310 ACTA1 58 HP:0002650 Scoliosis OMIM:255310 ACTA1 58 HP:0000275 Narrow face OMIM:255310 ACTA1 58 HP:0000276 Long face OMIM:255310 ACTA1 58 HP:0003324 Generalized muscle weakness OMIM:255310 ACTA1 58 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:255310 ACTA1 58 HP:0001644 Dilated cardiomyopathy OMIM:255310 ACTA1 58 HP:0000508 Ptosis OMIM:255310 ACTA1 58 HP:0000602 Ophthalmoplegia OMIM:255310 ACTA1 58 HP:0003701 Proximal muscle weakness OMIM:255310 ACTA1 58 HP:0001425 Heterogeneous OMIM:255310 ACTA1 58 HP:0001283 Bulbar palsy OMIM:255310 TPM3 7170 HP:0001508 Failure to thrive OMIM:255310 TPM3 7170 HP:0003121 Limb joint contracture OMIM:255310 TPM3 7170 HP:0003828 Variable expressivity OMIM:255310 TPM3 7170 HP:0002938 Lumbar hyperlordosis OMIM:255310 TPM3 7170 HP:0003577 Congenital onset OMIM:255310 TPM3 7170 HP:0001374 Congenital hip dislocation OMIM:255310 TPM3 7170 HP:0011968 Feeding difficulties OMIM:255310 TPM3 7170 HP:0010628 Facial palsy OMIM:255310 TPM3 7170 HP:0001612 Weak cry OMIM:255310 TPM3 7170 HP:0002093 Respiratory insufficiency OMIM:255310 TPM3 7170 HP:0003687 Centrally nucleated skeletal muscle fibers OMIM:255310 TPM3 7170 HP:0002015 Dysphagia OMIM:255310 TPM3 7170 HP:0000218 High palate OMIM:255310 TPM3 7170 HP:0001319 Neonatal hypotonia OMIM:255310 TPM3 7170 HP:0003755 Type 1 fibers relatively smaller than type 2 fibers OMIM:255310 TPM3 7170 HP:0001558 Decreased fetal movement OMIM:255310 TPM3 7170 HP:0000006 Autosomal dominant inheritance OMIM:255310 TPM3 7170 HP:0002650 Scoliosis OMIM:255310 TPM3 7170 HP:0000275 Narrow face OMIM:255310 TPM3 7170 HP:0000276 Long face OMIM:255310 TPM3 7170 HP:0003324 Generalized muscle weakness OMIM:255310 TPM3 7170 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:255310 TPM3 7170 HP:0001644 Dilated cardiomyopathy OMIM:255310 TPM3 7170 HP:0000508 Ptosis OMIM:255310 TPM3 7170 HP:0000602 Ophthalmoplegia OMIM:255310 TPM3 7170 HP:0003701 Proximal muscle weakness OMIM:255310 TPM3 7170 HP:0001425 Heterogeneous OMIM:255310 TPM3 7170 HP:0001283 Bulbar palsy OMIM:166250 FGFR1 2260 HP:0001363 Craniosynostosis OMIM:166250 FGFR1 2260 HP:0000453 Choanal atresia OMIM:166250 FGFR1 2260 HP:0002659 Increased susceptibility to fractures OMIM:166250 FGFR1 2260 HP:0009826 Limb undergrowth OMIM:166250 FGFR1 2260 HP:0008905 Rhizomelia OMIM:166250 FGFR1 2260 HP:0004348 Abnormality of bone mineral density OMIM:166250 FGFR1 2260 HP:0000303 Mandibular prognathia OMIM:166250 FGFR1 2260 HP:0000006 Autosomal dominant inheritance OMIM:166250 FGFR1 2260 HP:0001169 Broad palm OMIM:166250 FGFR1 2260 HP:0000706 Unerupted tooth OMIM:166250 FGFR1 2260 HP:0006487 Bowing of the long bones OMIM:166250 FGFR1 2260 HP:0000882 Hypoplastic scapulae OMIM:166250 FGFR1 2260 HP:0005280 Depressed nasal bridge OMIM:166250 FGFR1 2260 HP:0000047 Hypospadias OMIM:166250 FGFR1 2260 HP:0004299 Hernia of the abdominal wall OMIM:166250 FGFR1 2260 HP:0000347 Micrognathia OMIM:166250 FGFR1 2260 HP:0004279 Short palm OMIM:166250 FGFR1 2260 HP:0000023 Inguinal hernia OMIM:166250 FGFR1 2260 HP:0002750 Delayed skeletal maturation OMIM:166250 FGFR1 2260 HP:0003196 Short nose OMIM:166250 FGFR1 2260 HP:0009804 Reduced number of teeth OMIM:166250 FGFR1 2260 HP:0001773 Short foot OMIM:166250 FGFR1 2260 HP:0000750 Delayed speech and language development OMIM:166250 FGFR1 2260 HP:0000586 Shallow orbits OMIM:166250 FGFR1 2260 HP:0000343 Long philtrum OMIM:166250 FGFR1 2260 HP:0000028 Cryptorchidism OMIM:166250 FGFR1 2260 HP:0002007 Frontal bossing OMIM:166250 FGFR1 2260 HP:0000316 Hypertelorism OMIM:166250 FGFR1 2260 HP:0000041 Chordee OMIM:166250 FGFR1 2260 HP:0010743 Short metatarsal OMIM:166250 FGFR1 2260 HP:0000463 Anteverted nares OMIM:166250 FGFR1 2260 HP:0011800 Midface retrusion OMIM:166250 FGFR1 2260 HP:0000377 Abnormality of the pinna OMIM:166250 FGFR1 2260 HP:0000369 Low-set ears OMIM:166250 FGFR1 2260 HP:0000889 Abnormality of the clavicle OMIM:166250 FGFR1 2260 HP:0001742 Nasal obstruction OMIM:166250 FGFR1 2260 HP:0001800 Hypoplastic toenails OMIM:166250 FGFR1 2260 HP:0000494 Downslanted palpebral fissures OMIM:166250 FGFR1 2260 HP:0010049 Short metacarpal OMIM:166250 FGFR1 2260 HP:0002676 Cloverleaf skull OMIM:166250 FGFR1 2260 HP:0001156 Brachydactyly syndrome OMIM:166250 FGFR1 2260 HP:0001739 Abnormality of the nasopharynx OMIM:166250 FGFR1 2260 HP:0005864 Pseudoarthrosis OMIM:166250 FGFR1 2260 HP:0001508 Failure to thrive OMIM:166250 FGFR1 2260 HP:0009803 Short phalanx of finger OMIM:166250 FGFR1 2260 HP:0001769 Broad foot OMIM:166250 FGFR1 2260 HP:0006009 Broad phalanx OMIM:166250 FGFR1 2260 HP:0000218 High palate OMIM:166250 FGFR1 2260 HP:0100543 Cognitive impairment OMIM:166250 FGFR1 2260 HP:0001783 Broad metatarsal OMIM:166250 FGFR1 2260 HP:0004322 Short stature OMIM:166250 FGFR1 2260 HP:0000926 Platyspondyly OMIM:166250 FGFR1 2260 HP:0002650 Scoliosis OMIM:166250 FGFR1 2260 HP:0003312 Abnormal form of the vertebral bodies OMIM:166250 FGFR1 2260 HP:0000272 Malar flattening OMIM:166250 FGFR1 2260 HP:0001230 Broad metacarpals OMIM:166250 FGFR1 2260 HP:0000470 Short neck OMIM:166250 FGFR1 2260 HP:0002098 Respiratory distress OMIM:611022 RDX 5962 HP:0011476 Profound sensorineural hearing impairment OMIM:611022 RDX 5962 HP:0000007 Autosomal recessive inheritance OMIM:611022 RDX 5962 HP:0003593 Infantile onset OMIM:615031 TECPR2 9895 HP:0002079 Hypoplasia of the corpus callosum OMIM:615031 TECPR2 9895 HP:0000311 Round face OMIM:615031 TECPR2 9895 HP:0002064 Spastic gait OMIM:615031 TECPR2 9895 HP:0000007 Autosomal recessive inheritance OMIM:615031 TECPR2 9895 HP:0002059 Cerebral atrophy OMIM:615031 TECPR2 9895 HP:0001284 Areflexia OMIM:615031 TECPR2 9895 HP:0000678 Dental crowding OMIM:615031 TECPR2 9895 HP:0000294 Low anterior hairline OMIM:615031 TECPR2 9895 HP:0002871 Central apnea OMIM:615031 TECPR2 9895 HP:0001310 Dysmetria OMIM:615031 TECPR2 9895 HP:0001263 Global developmental delay OMIM:615031 TECPR2 9895 HP:0004322 Short stature OMIM:615031 TECPR2 9895 HP:0000470 Short neck OMIM:615031 TECPR2 9895 HP:0002020 Gastroesophageal reflux OMIM:615031 TECPR2 9895 HP:0002066 Gait ataxia OMIM:615031 TECPR2 9895 HP:0000252 Microcephaly OMIM:615031 TECPR2 9895 HP:0001252 Muscular hypotonia OMIM:615031 TECPR2 9895 HP:0001260 Dysarthria OMIM:615031 TECPR2 9895 HP:0000248 Brachycephaly OMIM:615031 TECPR2 9895 HP:0001250 Seizures OMIM:615031 TECPR2 9895 HP:0001258 Spastic paraplegia OMIM:615031 TECPR2 9895 HP:0000475 Broad neck OMIM:253000 GALNS 2588 HP:0000007 Autosomal recessive inheritance OMIM:253000 GALNS 2588 HP:0003308 Cervical subluxation OMIM:253000 GALNS 2588 HP:0002857 Genu valgum OMIM:253000 GALNS 2588 HP:0003311 Hypoplasia of the odontoid process OMIM:253000 GALNS 2588 HP:0012069 Keratan sulfate excretion in urine OMIM:253000 GALNS 2588 HP:0003016 Metaphyseal widening OMIM:253000 GALNS 2588 HP:0002091 Restrictive lung disease OMIM:253000 GALNS 2588 HP:0003307 Hyperlordosis OMIM:253000 GALNS 2588 HP:0000023 Inguinal hernia OMIM:253000 GALNS 2588 HP:0000154 Wide mouth OMIM:253000 GALNS 2588 HP:0000683 Grayish enamel OMIM:253000 GALNS 2588 HP:0003521 Disproportionate short-trunk short stature OMIM:253000 GALNS 2588 HP:0000939 Osteoporosis OMIM:253000 GALNS 2588 HP:0002788 Recurrent upper respiratory tract infections OMIM:253000 GALNS 2588 HP:0001654 Abnormality of the heart valves OMIM:253000 GALNS 2588 HP:0012070 Chondroitin sulfate excretion in urine OMIM:253000 GALNS 2588 HP:0002673 Coxa valga OMIM:253000 GALNS 2588 HP:0000926 Platyspondyly OMIM:253000 GALNS 2588 HP:0000303 Mandibular prognathia OMIM:253000 GALNS 2588 HP:0002318 Cervical myelopathy OMIM:253000 GALNS 2588 HP:0000670 Carious teeth OMIM:253000 GALNS 2588 HP:0000365 Hearing impairment OMIM:253000 GALNS 2588 HP:0003621 Juvenile onset OMIM:253000 GALNS 2588 HP:0003053 Epiphyseal deformities of tubular bones OMIM:253000 GALNS 2588 HP:0000687 Widely spaced teeth OMIM:253000 GALNS 2588 HP:0003049 Ulnar deviation of the wrist OMIM:253000 GALNS 2588 HP:0000904 Flaring of rib cage OMIM:253000 GALNS 2588 HP:0002808 Kyphosis OMIM:253000 GALNS 2588 HP:0000280 Coarse facial features OMIM:253000 GALNS 2588 HP:0002650 Scoliosis OMIM:253000 GALNS 2588 HP:0001388 Joint laxity OMIM:253000 GALNS 2588 HP:0007759 Opacification of the corneal stroma OMIM:253000 GALNS 2588 HP:0002240 Hepatomegaly OMIM:253000 GALNS 2588 HP:0003300 Ovoid vertebral bodies OMIM:253000 GALNS 2588 HP:0000884 Prominent sternum OMIM:253000 GALNS 2588 HP:0001223 Pointed proximal second through fifth metacarpals OMIM:253000 GALNS 2588 HP:0003277 Constricted iliac wings OMIM:256100 NPHP1 4867 HP:0005576 Tubulointerstitial fibrosis OMIM:256100 NPHP1 4867 HP:0001510 Growth delay OMIM:256100 NPHP1 4867 HP:0003158 Hyposthenuria OMIM:256100 NPHP1 4867 HP:0003774 Stage 5 chronic kidney disease OMIM:256100 NPHP1 4867 HP:0000007 Autosomal recessive inheritance OMIM:256100 NPHP1 4867 HP:0000092 Tubular atrophy OMIM:256100 NPHP1 4867 HP:0001903 Anemia OMIM:256100 NPHP1 4867 HP:0001959 Polydipsia OMIM:256100 NPHP1 4867 HP:0000090 Nephronophthisis OMIM:256100 NPHP1 4867 HP:0000103 Polyuria OMIM:256100 NPHP1 4867 HP:0005583 Tubular basement membrane disintegration OMIM:256100 NPHP1 4867 HP:0000822 Hypertension OMIM:256100 NPHP1 4867 HP:0000108 Renal corticomedullary cysts OMIM:265050 COLEC11 78989 HP:0000426 Prominent nasal bridge OMIM:265050 COLEC11 78989 HP:0010759 Premaxillary Prominence OMIM:265050 COLEC11 78989 HP:0000337 Broad forehead OMIM:265050 COLEC11 78989 HP:0001263 Global developmental delay OMIM:265050 COLEC11 78989 HP:0000431 Wide nasal bridge OMIM:265050 COLEC11 78989 HP:0002714 Downturned corners of mouth OMIM:265050 COLEC11 78989 HP:0000437 Depressed nasal tip OMIM:265050 COLEC11 78989 HP:0009004 Hypoplasia of the musculature OMIM:265050 COLEC11 78989 HP:0000473 Torticollis OMIM:265050 COLEC11 78989 HP:0005243 Partial abdominal muscle agenesis OMIM:265050 COLEC11 78989 HP:0002996 Limited elbow movement OMIM:265050 COLEC11 78989 HP:0000486 Strabismus OMIM:265050 COLEC11 78989 HP:0000028 Cryptorchidism OMIM:265050 COLEC11 78989 HP:0000365 Hearing impairment OMIM:265050 COLEC11 78989 HP:0000537 Epicanthus inversus OMIM:265050 COLEC11 78989 HP:0002827 Hip dislocation OMIM:265050 COLEC11 78989 HP:0000007 Autosomal recessive inheritance OMIM:265050 COLEC11 78989 HP:0002974 Radioulnar synostosis OMIM:265050 COLEC11 78989 HP:0002553 Highly arched eyebrow OMIM:265050 COLEC11 78989 HP:0000316 Hypertelorism OMIM:265050 COLEC11 78989 HP:0000494 Downslanted palpebral fissures OMIM:265050 COLEC11 78989 HP:0001249 Intellectual disability OMIM:265050 COLEC11 78989 HP:0000289 Broad philtrum OMIM:265050 COLEC11 78989 HP:0001540 Diastasis recti OMIM:265050 COLEC11 78989 HP:0008897 Postnatal growth retardation OMIM:265050 COLEC11 78989 HP:0000581 Blepharophimosis OMIM:265050 COLEC11 78989 HP:0000508 Ptosis OMIM:265050 COLEC11 78989 HP:0003468 Abnormality of the vertebrae OMIM:265050 COLEC11 78989 HP:0000175 Cleft palate OMIM:265050 COLEC11 78989 HP:0001363 Craniosynostosis OMIM:265050 COLEC11 78989 HP:0001382 Joint hypermobility OMIM:265050 COLEC11 78989 HP:0000204 Cleft upper lip OMIM:213980 TMCO1 54499 HP:0001845 Overlapping toe OMIM:213980 TMCO1 54499 HP:0000007 Autosomal recessive inheritance OMIM:213980 TMCO1 54499 HP:0006610 Wide intermamillary distance OMIM:213980 TMCO1 54499 HP:0000154 Wide mouth OMIM:213980 TMCO1 54499 HP:0000288 Abnormality of the philtrum OMIM:213980 TMCO1 54499 HP:0000774 Narrow chest OMIM:213980 TMCO1 54499 HP:0000653 Sparse eyelashes OMIM:213980 TMCO1 54499 HP:0000294 Low anterior hairline OMIM:213980 TMCO1 54499 HP:0000175 Cleft palate OMIM:213980 TMCO1 54499 HP:0000316 Hypertelorism OMIM:213980 TMCO1 54499 HP:0002079 Hypoplasia of the corpus callosum OMIM:213980 TMCO1 54499 HP:0006347 Microdontia of primary teeth OMIM:213980 TMCO1 54499 HP:0002162 Low posterior hairline OMIM:213980 TMCO1 54499 HP:0001363 Craniosynostosis OMIM:213980 TMCO1 54499 HP:0000049 Shawl scrotum OMIM:213980 TMCO1 54499 HP:0001631 Defect in the atrial septum OMIM:213980 TMCO1 54499 HP:0000023 Inguinal hernia OMIM:213980 TMCO1 54499 HP:0000212 Gingival overgrowth OMIM:213980 TMCO1 54499 HP:0002937 Hemivertebrae OMIM:213980 TMCO1 54499 HP:0008897 Postnatal growth retardation OMIM:213980 TMCO1 54499 HP:0004322 Short stature OMIM:213980 TMCO1 54499 HP:0000286 Epicanthus OMIM:213980 TMCO1 54499 HP:0100543 Cognitive impairment OMIM:213980 TMCO1 54499 HP:0000772 Abnormality of the ribs OMIM:213980 TMCO1 54499 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:213980 TMCO1 54499 HP:0003196 Short nose OMIM:213980 TMCO1 54499 HP:0000252 Microcephaly OMIM:213980 TMCO1 54499 HP:0002119 Ventriculomegaly OMIM:213980 TMCO1 54499 HP:0002290 Poliosis OMIM:213980 TMCO1 54499 HP:0000960 Sacral dimple OMIM:213980 TMCO1 54499 HP:0000077 Abnormality of the kidney OMIM:213980 TMCO1 54499 HP:0012368 Flat face OMIM:213980 TMCO1 54499 HP:0000824 Growth hormone deficiency OMIM:213980 TMCO1 54499 HP:0000486 Strabismus OMIM:213980 TMCO1 54499 HP:0003422 Vertebral segmentation defect OMIM:213980 TMCO1 54499 HP:0000248 Brachycephaly OMIM:213980 TMCO1 54499 HP:0000527 Long eyelashes OMIM:213980 TMCO1 54499 HP:0000664 Synophrys OMIM:213980 TMCO1 54499 HP:0002650 Scoliosis OMIM:213980 TMCO1 54499 HP:0000494 Downslanted palpebral fissures OMIM:213980 TMCO1 54499 HP:0000574 Thick eyebrow OMIM:213980 TMCO1 54499 HP:0000347 Micrognathia OMIM:213980 TMCO1 54499 HP:0002208 Coarse hair OMIM:213980 TMCO1 54499 HP:0001270 Motor delay OMIM:213980 TMCO1 54499 HP:0000902 Rib fusion OMIM:213980 TMCO1 54499 HP:0000742 Self-mutilation OMIM:213980 TMCO1 54499 HP:0100790 Hernia OMIM:213980 TMCO1 54499 HP:0000204 Cleft upper lip OMIM:213980 TMCO1 54499 HP:0000582 Upslanted palpebral fissure OMIM:213980 TMCO1 54499 HP:0001561 Polyhydramnios OMIM:213980 TMCO1 54499 HP:0000368 Low-set, posteriorly rotated ears OMIM:213980 TMCO1 54499 HP:0002120 Cerebral cortical atrophy OMIM:213980 TMCO1 54499 HP:0000256 Macrocephaly OMIM:213980 TMCO1 54499 HP:0000445 Wide nose OMIM:213980 TMCO1 54499 HP:0011968 Feeding difficulties OMIM:213980 TMCO1 54499 HP:0001162 Postaxial hand polydactyly OMIM:213980 TMCO1 54499 HP:0000470 Short neck OMIM:213980 TMCO1 54499 HP:0000535 Sparse eyebrow OMIM:213980 TMCO1 54499 HP:0001643 Patent ductus arteriosus OMIM:213980 TMCO1 54499 HP:0001249 Intellectual disability OMIM:213980 TMCO1 54499 HP:0001558 Decreased fetal movement OMIM:213980 TMCO1 54499 HP:0000218 High palate OMIM:213980 TMCO1 54499 HP:0001520 Large for gestational age OMIM:213980 TMCO1 54499 HP:0002553 Highly arched eyebrow OMIM:213980 TMCO1 54499 HP:0001382 Joint hypermobility OMIM:213980 TMCO1 54499 HP:0007018 Attention deficit hyperactivity disorder OMIM:213980 TMCO1 54499 HP:0003312 Abnormal form of the vertebral bodies OMIM:213980 TMCO1 54499 HP:0000739 Anxiety OMIM:213980 TMCO1 54499 HP:0002648 Abnormality of calvarial morphology OMIM:213980 TMCO1 54499 HP:0002558 Supernumerary nipple OMIM:213980 TMCO1 54499 HP:0000912 Sprengel anomaly OMIM:213980 TMCO1 54499 HP:0000892 Bifid ribs OMIM:213980 TMCO1 54499 HP:0001762 Talipes equinovarus OMIM:213980 TMCO1 54499 HP:0001763 Pes planus OMIM:213980 TMCO1 54499 HP:0000327 Hypoplasia of the maxilla OMIM:213980 TMCO1 54499 HP:0004568 Beaking of vertebral bodies OMIM:213980 TMCO1 54499 HP:0000341 Narrow forehead OMIM:213980 TMCO1 54499 HP:0000272 Malar flattening OMIM:213980 TMCO1 54499 HP:0011504 Bull's eye maculopathy OMIM:213980 TMCO1 54499 HP:0001319 Neonatal hypotonia OMIM:213980 TMCO1 54499 HP:0000508 Ptosis OMIM:213980 TMCO1 54499 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:610100 DCAF8 50717 HP:0003383 Onion bulb formation OMIM:610100 DCAF8 50717 HP:0003477 Peripheral axonal neuropathy OMIM:610100 DCAF8 50717 HP:0006937 Impaired distal tactile sensation OMIM:610100 DCAF8 50717 HP:0006886 Impaired distal vibration sensation OMIM:610100 DCAF8 50717 HP:0001265 Hyporeflexia OMIM:610100 DCAF8 50717 HP:0001284 Areflexia OMIM:610100 DCAF8 50717 HP:0003444 EMG: chronic denervation signs OMIM:610100 DCAF8 50717 HP:0003693 Distal amyotrophy OMIM:610100 DCAF8 50717 HP:0003376 Steppage gait OMIM:610100 DCAF8 50717 HP:0001761 Pes cavus OMIM:610100 DCAF8 50717 HP:0001765 Hammertoe OMIM:610100 DCAF8 50717 HP:0001638 Cardiomyopathy OMIM:610100 DCAF8 50717 HP:0003431 Decreased motor nerve conduction velocity OMIM:610100 DCAF8 50717 HP:0000006 Autosomal dominant inheritance OMIM:610100 DCAF8 50717 HP:0002460 Distal muscle weakness OMIM:606864 SDHD 6392 HP:0002668 Paraganglioma OMIM:606864 SDHD 6392 HP:0006753 Neoplasm of the stomach OMIM:606864 SDHD 6392 HP:0005214 Intestinal obstruction OMIM:606864 SDHD 6392 HP:0002239 Gastrointestinal hemorrhage OMIM:606864 SDHD 6392 HP:0006824 Cranial nerve paralysis OMIM:606864 SDHD 6392 HP:0002027 Abdominal pain OMIM:606864 SDHD 6392 HP:0100242 Sarcoma OMIM:606864 SDHD 6392 HP:0000365 Hearing impairment OMIM:606864 SDHD 6392 HP:0000360 Tinnitus OMIM:606864 SDHD 6392 HP:0008872 Feeding difficulties in infancy OMIM:606864 SDHC 6391 HP:0002668 Paraganglioma OMIM:606864 SDHC 6391 HP:0006753 Neoplasm of the stomach OMIM:606864 SDHC 6391 HP:0005214 Intestinal obstruction OMIM:606864 SDHC 6391 HP:0002239 Gastrointestinal hemorrhage OMIM:606864 SDHC 6391 HP:0006824 Cranial nerve paralysis OMIM:606864 SDHC 6391 HP:0002027 Abdominal pain OMIM:606864 SDHC 6391 HP:0100242 Sarcoma OMIM:606864 SDHC 6391 HP:0000365 Hearing impairment OMIM:606864 SDHC 6391 HP:0000360 Tinnitus OMIM:606864 SDHC 6391 HP:0008872 Feeding difficulties in infancy OMIM:606864 SDHB 6390 HP:0002668 Paraganglioma OMIM:606864 SDHB 6390 HP:0006753 Neoplasm of the stomach OMIM:606864 SDHB 6390 HP:0005214 Intestinal obstruction OMIM:606864 SDHB 6390 HP:0002239 Gastrointestinal hemorrhage OMIM:606864 SDHB 6390 HP:0006824 Cranial nerve paralysis OMIM:606864 SDHB 6390 HP:0002027 Abdominal pain OMIM:606864 SDHB 6390 HP:0100242 Sarcoma OMIM:606864 SDHB 6390 HP:0000365 Hearing impairment OMIM:606864 SDHB 6390 HP:0000360 Tinnitus OMIM:606864 SDHB 6390 HP:0008872 Feeding difficulties in infancy OMIM:615979 FBXO31 79791 HP:0000574 Thick eyebrow OMIM:615979 FBXO31 79791 HP:0000336 Prominent supraorbital ridges OMIM:615979 FBXO31 79791 HP:0000280 Coarse facial features OMIM:615979 FBXO31 79791 HP:0001249 Intellectual disability OMIM:615979 FBXO31 79791 HP:0000431 Wide nasal bridge OMIM:615979 FBXO31 79791 HP:0000490 Deeply set eye OMIM:614380 C4A 720 HP:0200144 Anaphylactoid purpura OMIM:614380 C4A 720 HP:0000099 Glomerulonephritis OMIM:614380 C4A 720 HP:0000007 Autosomal recessive inheritance OMIM:614380 C4A 720 HP:0004431 Complement deficiency OMIM:614380 C4A 720 HP:0002725 Systemic lupus erythematosus OMIM:614380 C4A 720 HP:0000992 Cutaneous photosensitivity OMIM:614380 C4A 720 HP:0002633 Vasculitis OMIM:250620 HIBCH 26275 HP:0001310 Dysmetria OMIM:250620 HIBCH 26275 HP:0001263 Global developmental delay OMIM:250620 HIBCH 26275 HP:0011968 Feeding difficulties OMIM:250620 HIBCH 26275 HP:0000007 Autosomal recessive inheritance OMIM:250620 HIBCH 26275 HP:0003468 Abnormality of the vertebrae OMIM:250620 HIBCH 26275 HP:0001252 Muscular hypotonia OMIM:250620 HIBCH 26275 HP:0002376 Developmental regression OMIM:250620 HIBCH 26275 HP:0001999 Abnormal facial shape OMIM:250620 HIBCH 26275 HP:0001636 Tetralogy of Fallot OMIM:250620 HIBCH 26275 HP:0001274 Agenesis of corpus callosum OMIM:250620 HIBCH 26275 HP:0001336 Myoclonus OMIM:250620 HIBCH 26275 HP:0003355 Aminoaciduria OMIM:250620 HIBCH 26275 HP:0001332 Dystonia OMIM:250620 HIBCH 26275 HP:0001250 Seizures OMIM:613135 SLC6A3 6531 HP:0008936 Muscular hypotonia of the trunk OMIM:613135 SLC6A3 6531 HP:0002019 Constipation OMIM:613135 SLC6A3 6531 HP:0002067 Bradykinesia OMIM:613135 SLC6A3 6531 HP:0100660 Dyskinesia OMIM:613135 SLC6A3 6531 HP:0001276 Hypertonia OMIM:613135 SLC6A3 6531 HP:0003676 Progressive disorder OMIM:613135 SLC6A3 6531 HP:0002063 Rigidity OMIM:613135 SLC6A3 6531 HP:0000007 Autosomal recessive inheritance OMIM:613135 SLC6A3 6531 HP:0002194 Delayed gross motor development OMIM:613135 SLC6A3 6531 HP:0001337 Tremor OMIM:613135 SLC6A3 6531 HP:0002451 Limb dystonia OMIM:613135 SLC6A3 6531 HP:0007256 Abnormal pyramidal signs OMIM:613135 SLC6A3 6531 HP:0001300 Parkinsonism OMIM:613135 SLC6A3 6531 HP:0002072 Chorea OMIM:613135 SLC6A3 6531 HP:0002020 Gastroesophageal reflux OMIM:613135 SLC6A3 6531 HP:0002062 Morphological abnormality of the pyramidal tract OMIM:613135 SLC6A3 6531 HP:0001263 Global developmental delay OMIM:613135 SLC6A3 6531 HP:0011968 Feeding difficulties OMIM:613135 SLC6A3 6531 HP:0003593 Infantile onset OMIM:600208 MYH9 4627 HP:0000478 Abnormality of the eye OMIM:600208 MYH9 4627 HP:0000978 Bruising susceptibility OMIM:600208 MYH9 4627 HP:0003010 Prolonged bleeding time OMIM:600208 MYH9 4627 HP:0000079 Abnormality of the urinary system OMIM:600208 MYH9 4627 HP:0001902 Giant platelets OMIM:600208 MYH9 4627 HP:0001892 Abnormal bleeding OMIM:600208 MYH9 4627 HP:0001873 Thrombocytopenia OMIM:600208 MYH9 4627 HP:0000408 Progressive sensorineural hearing impairment OMIM:600208 MYH9 4627 HP:0000006 Autosomal dominant inheritance OMIM:607907 PDGFB 5155 HP:0200042 Skin ulcer OMIM:607907 PDGFB 5155 HP:0100242 Sarcoma OMIM:607907 PDGFB 5155 HP:0008069 Neoplasm of the skin OMIM:607907 PDGFB 5155 HP:0001072 Thickened skin OMIM:170650 CTSC 1075 HP:0006480 Premature loss of teeth OMIM:170650 CTSC 1075 HP:0001425 Heterogeneous OMIM:170650 CTSC 1075 HP:0000166 Severe periodontitis OMIM:170650 CTSC 1075 HP:0000007 Autosomal recessive inheritance OMIM:170650 CTSC 1075 HP:0000951 Abnormality of the skin OMIM:608688 ATIC 471 HP:0000463 Anteverted nares OMIM:608688 ATIC 471 HP:0000057 Clitoromegaly OMIM:608688 ATIC 471 HP:0000219 Thin upper lip vermilion OMIM:608688 ATIC 471 HP:0000426 Prominent nasal bridge OMIM:608688 ATIC 471 HP:0000248 Brachycephaly OMIM:608688 ATIC 471 HP:0002187 Intellectual disability, profound OMIM:608688 ATIC 471 HP:0011220 Prominent forehead OMIM:608688 ATIC 471 HP:0002007 Frontal bossing OMIM:608688 ATIC 471 HP:0001631 Defect in the atrial septum OMIM:608688 ATIC 471 HP:0000007 Autosomal recessive inheritance OMIM:608688 ATIC 471 HP:0007875 Congenital blindness OMIM:608688 ATIC 471 HP:0000154 Wide mouth OMIM:608688 ATIC 471 HP:0000951 Abnormality of the skin OMIM:608688 ATIC 471 HP:0001939 Abnormality of metabolism/homeostasis OMIM:608688 ATIC 471 HP:0001252 Muscular hypotonia OMIM:608688 ATIC 471 HP:0000063 Fused labia minora OMIM:608688 ATIC 471 HP:0000369 Low-set ears OMIM:608688 ATIC 471 HP:0000648 Optic atrophy OMIM:608688 ATIC 471 HP:0001250 Seizures OMIM:611881 ALDOA 226 HP:0001930 Nonspherocytic hemolytic anemia OMIM:611881 ALDOA 226 HP:0001082 Cholecystitis OMIM:611881 ALDOA 226 HP:0000952 Jaundice OMIM:611881 ALDOA 226 HP:0001249 Intellectual disability OMIM:611881 ALDOA 226 HP:0000286 Epicanthus OMIM:611881 ALDOA 226 HP:0000470 Short neck OMIM:611881 ALDOA 226 HP:0001744 Splenomegaly OMIM:611881 ALDOA 226 HP:0000508 Ptosis OMIM:611881 ALDOA 226 HP:0001895 Normochromic anemia OMIM:611881 ALDOA 226 HP:0004322 Short stature OMIM:611881 ALDOA 226 HP:0001081 Cholelithiasis OMIM:611881 ALDOA 226 HP:0002162 Low posterior hairline OMIM:611881 ALDOA 226 HP:0000007 Autosomal recessive inheritance OMIM:611881 ALDOA 226 HP:0003198 Myopathy OMIM:611881 ALDOA 226 HP:0001897 Normocytic anemia OMIM:611881 ALDOA 226 HP:0000823 Delayed puberty OMIM:616004 FGG 2266 HP:0004418 Thrombophlebitis OMIM:616004 FGG 2266 HP:0002239 Gastrointestinal hemorrhage OMIM:616004 FGG 2266 HP:0000225 Gingival bleeding OMIM:616004 FGG 2266 HP:0000421 Epistaxis OMIM:616004 FGG 2266 HP:0001928 Abnormality of coagulation OMIM:616004 FGB 2244 HP:0004418 Thrombophlebitis OMIM:616004 FGB 2244 HP:0002239 Gastrointestinal hemorrhage OMIM:616004 FGB 2244 HP:0000225 Gingival bleeding OMIM:616004 FGB 2244 HP:0000421 Epistaxis OMIM:616004 FGB 2244 HP:0001928 Abnormality of coagulation OMIM:616004 FGA 2243 HP:0004418 Thrombophlebitis OMIM:616004 FGA 2243 HP:0002239 Gastrointestinal hemorrhage OMIM:616004 FGA 2243 HP:0000225 Gingival bleeding OMIM:616004 FGA 2243 HP:0000421 Epistaxis OMIM:616004 FGA 2243 HP:0001928 Abnormality of coagulation OMIM:260600 AIMP1 9255 HP:0008936 Muscular hypotonia of the trunk OMIM:260600 AIMP1 9255 HP:0002415 Leukodystrophy OMIM:260600 AIMP1 9255 HP:0001508 Failure to thrive OMIM:260600 AIMP1 9255 HP:0002587 Projectile vomiting OMIM:260600 AIMP1 9255 HP:0007371 Corpus callosum atrophy OMIM:260600 AIMP1 9255 HP:0003676 Progressive disorder OMIM:260600 AIMP1 9255 HP:0002751 Kyphoscoliosis OMIM:260600 AIMP1 9255 HP:0000007 Autosomal recessive inheritance OMIM:260600 AIMP1 9255 HP:0001522 Death in infancy OMIM:260600 AIMP1 9255 HP:0001250 Seizures OMIM:260600 AIMP1 9255 HP:0001622 Premature birth OMIM:260600 AIMP1 9255 HP:0007256 Abnormal pyramidal signs OMIM:260600 AIMP1 9255 HP:0005876 Progressive flexion contractures OMIM:260600 AIMP1 9255 HP:0006918 Diffuse cerebral sclerosis OMIM:260600 AIMP1 9255 HP:0003269 Sudanophilic leukodystrophy OMIM:260600 AIMP1 9255 HP:0000280 Coarse facial features OMIM:260600 AIMP1 9255 HP:0000505 Visual impairment OMIM:260600 AIMP1 9255 HP:0002804 Arthrogryposis multiplex congenita OMIM:260600 AIMP1 9255 HP:0002283 Global brain atrophy OMIM:260600 AIMP1 9255 HP:0002313 Spastic paraparesis OMIM:260600 AIMP1 9255 HP:0000252 Microcephaly OMIM:260600 AIMP1 9255 HP:0002353 EEG abnormality OMIM:260600 AIMP1 9255 HP:0001263 Global developmental delay OMIM:131300 TGFB1 7040 HP:0009763 Limb pain OMIM:131300 TGFB1 7040 HP:0000520 Proptosis OMIM:131300 TGFB1 7040 HP:0002652 Skeletal dysplasia OMIM:131300 TGFB1 7040 HP:0000670 Carious teeth OMIM:131300 TGFB1 7040 HP:0003388 Easy fatigability OMIM:131300 TGFB1 7040 HP:0002039 Anorexia OMIM:131300 TGFB1 7040 HP:0001763 Pes planus OMIM:131300 TGFB1 7040 HP:0000501 Glaucoma OMIM:131300 TGFB1 7040 HP:0002694 Sclerosis of skull base OMIM:131300 TGFB1 7040 HP:0001519 Disproportionate tall stature OMIM:131300 TGFB1 7040 HP:0000079 Abnormality of the urinary system OMIM:131300 TGFB1 7040 HP:0002650 Scoliosis OMIM:131300 TGFB1 7040 HP:0008872 Feeding difficulties in infancy OMIM:131300 TGFB1 7040 HP:0004396 Poor appetite OMIM:131300 TGFB1 7040 HP:0000006 Autosomal dominant inheritance OMIM:131300 TGFB1 7040 HP:0000303 Mandibular prognathia OMIM:131300 TGFB1 7040 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:131300 TGFB1 7040 HP:0000823 Delayed puberty OMIM:131300 TGFB1 7040 HP:0000648 Optic atrophy OMIM:131300 TGFB1 7040 HP:0002315 Headache OMIM:131300 TGFB1 7040 HP:0002808 Kyphosis OMIM:131300 TGFB1 7040 HP:0002857 Genu valgum OMIM:131300 TGFB1 7040 HP:0003307 Hyperlordosis OMIM:131300 TGFB1 7040 HP:0001903 Anemia OMIM:131300 TGFB1 7040 HP:0001882 Leukopenia OMIM:131300 TGFB1 7040 HP:0000365 Hearing impairment OMIM:131300 TGFB1 7040 HP:0005528 Bone marrow hypocellularity OMIM:131300 TGFB1 7040 HP:0002997 Abnormality of the ulna OMIM:131300 TGFB1 7040 HP:0001063 Acrocyanosis OMIM:131300 TGFB1 7040 HP:0002007 Frontal bossing OMIM:131300 TGFB1 7040 HP:0100774 Hyperostosis OMIM:131300 TGFB1 7040 HP:0002515 Waddling gait OMIM:131300 TGFB1 7040 HP:0003202 Skeletal muscle atrophy OMIM:131300 TGFB1 7040 HP:0002240 Hepatomegaly OMIM:131300 TGFB1 7040 HP:0003621 Juvenile onset OMIM:131300 TGFB1 7040 HP:0000944 Abnormality of the metaphyses OMIM:131300 TGFB1 7040 HP:0000078 Abnormality of the genital system OMIM:131300 TGFB1 7040 HP:0007807 Optic nerve compression OMIM:131300 TGFB1 7040 HP:0003272 Abnormality of the hip bone OMIM:131300 TGFB1 7040 HP:0001744 Splenomegaly OMIM:131300 TGFB1 7040 HP:0005791 Cortical thickening of long bone diaphyses OMIM:131300 TGFB1 7040 HP:0002167 Neurological speech impairment OMIM:131300 TGFB1 7040 HP:0002311 Incoordination OMIM:131300 TGFB1 7040 HP:0002653 Bone pain OMIM:131300 TGFB1 7040 HP:0003063 Abnormality of the humerus OMIM:131300 TGFB1 7040 HP:0001639 Hypertrophic cardiomyopathy OMIM:131300 TGFB1 7040 HP:0010628 Facial palsy OMIM:131300 TGFB1 7040 HP:0001376 Limitation of joint mobility OMIM:131300 TGFB1 7040 HP:0002823 Abnormality of the femur OMIM:131300 TGFB1 7040 HP:0001533 Slender build OMIM:131300 TGFB1 7040 HP:0000684 Delayed eruption of teeth OMIM:131300 TGFB1 7040 HP:0003034 Diaphyseal sclerosis OMIM:131300 TGFB1 7040 HP:0000651 Diplopia OMIM:131300 TGFB1 7040 HP:0001002 Decreased subcutaneous fat OMIM:131300 TGFB1 7040 HP:0001999 Abnormal facial shape OMIM:252605 GNPTG 84572 HP:0000280 Coarse facial features OMIM:252605 GNPTG 84572 HP:0004322 Short stature OMIM:252605 GNPTG 84572 HP:0002650 Scoliosis OMIM:252605 GNPTG 84572 HP:0000470 Short neck OMIM:252605 GNPTG 84572 HP:0007759 Opacification of the corneal stroma OMIM:252605 GNPTG 84572 HP:0000768 Pectus carinatum OMIM:252605 GNPTG 84572 HP:0000943 Dysostosis multiplex OMIM:252605 GNPTG 84572 HP:0001155 Abnormality of the hand OMIM:252605 GNPTG 84572 HP:0002829 Arthralgia OMIM:252605 GNPTG 84572 HP:0001256 Intellectual disability, mild OMIM:252605 GNPTG 84572 HP:0001547 Abnormality of the rib cage OMIM:252605 GNPTG 84572 HP:0003307 Hyperlordosis OMIM:252605 GNPTG 84572 HP:0002808 Kyphosis OMIM:252605 GNPTG 84572 HP:0002857 Genu valgum OMIM:252605 GNPTG 84572 HP:0001650 Aortic valve stenosis OMIM:252605 GNPTG 84572 HP:0001659 Aortic regurgitation OMIM:252605 GNPTG 84572 HP:0002869 Flared iliac wings OMIM:252605 GNPTG 84572 HP:0000545 Myopia OMIM:252605 GNPTG 84572 HP:0003370 Flat capital femoral epiphysis OMIM:252605 GNPTG 84572 HP:0003333 Increased serum beta-hexosaminidase OMIM:252605 GNPTG 84572 HP:0001387 Joint stiffness OMIM:252605 GNPTG 84572 HP:0000007 Autosomal recessive inheritance OMIM:188050 F2 2147 HP:0011463 Childhood onset OMIM:188050 F2 2147 HP:0001907 Thromboembolism OMIM:188050 F2 2147 HP:0002204 Pulmonary embolism OMIM:188050 F2 2147 HP:0004419 Recurrent thrombophlebitis OMIM:188050 F2 2147 HP:0005305 Cerebral venous thrombosis OMIM:188050 F2 2147 HP:0002625 Deep venous thrombosis OMIM:188050 F2 2147 HP:0000006 Autosomal dominant inheritance OMIM:612561 RPL5 6125 HP:0001631 Defect in the atrial septum OMIM:612561 RPL5 6125 HP:0000175 Cleft palate OMIM:612561 RPL5 6125 HP:0001972 Macrocytic anemia OMIM:612561 RPL5 6125 HP:0000204 Cleft upper lip OMIM:612561 RPL5 6125 HP:0001199 Triphalangeal thumb OMIM:612561 RPL5 6125 HP:0005518 Erythrocyte macrocytosis OMIM:612561 RPL5 6125 HP:0000347 Micrognathia OMIM:612561 RPL5 6125 HP:0000006 Autosomal dominant inheritance OMIM:612561 RPL5 6125 HP:0011904 Persistence of hemoglobin F OMIM:615139 POLE 5426 HP:0000272 Malar flattening OMIM:615139 POLE 5426 HP:0000007 Autosomal recessive inheritance OMIM:615139 POLE 5426 HP:0004482 Relative macrocephaly OMIM:615139 POLE 5426 HP:0002653 Bone pain OMIM:615139 POLE 5426 HP:0004322 Short stature OMIM:615139 POLE 5426 HP:0003577 Congenital onset OMIM:615139 POLE 5426 HP:0002721 Immunodeficiency OMIM:615139 POLE 5426 HP:0000337 Broad forehead OMIM:615139 POLE 5426 HP:0002205 Recurrent respiratory infections OMIM:615139 POLE 5426 HP:0007421 Telangiectases of the cheeks OMIM:614337 PMS2 5395 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:614337 PMS2 5395 HP:0012114 Endometrial carcinoma OMIM:614337 PMS2 5395 HP:0000006 Autosomal dominant inheritance OMIM:614337 PMS2 5395 HP:0100615 Ovarian neoplasm OMIM:300699 GRIA3 2892 HP:0000336 Prominent supraorbital ridges OMIM:300699 GRIA3 2892 HP:0002460 Distal muscle weakness OMIM:300699 GRIA3 2892 HP:0000717 Autism OMIM:300699 GRIA3 2892 HP:0001265 Hyporeflexia OMIM:300699 GRIA3 2892 HP:0004322 Short stature OMIM:300699 GRIA3 2892 HP:0000718 Aggressive behavior OMIM:300699 GRIA3 2892 HP:0000490 Deeply set eye OMIM:300699 GRIA3 2892 HP:0001533 Slender build OMIM:300699 GRIA3 2892 HP:0001250 Seizures OMIM:300699 GRIA3 2892 HP:0001336 Myoclonus OMIM:300699 GRIA3 2892 HP:0000256 Macrocephaly OMIM:300699 GRIA3 2892 HP:0000248 Brachycephaly OMIM:300699 GRIA3 2892 HP:0001249 Intellectual disability OMIM:300699 GRIA3 2892 HP:0001419 X-linked recessive inheritance OMIM:613345 SCN4A 6329 HP:0003198 Myopathy OMIM:613345 SCN4A 6329 HP:0002900 Hypokalemia OMIM:613345 SCN4A 6329 HP:0003768 Periodic paralysis OMIM:613345 SCN4A 6329 HP:0003812 Phenotypic variability OMIM:613345 SCN4A 6329 HP:0000006 Autosomal dominant inheritance OMIM:613345 SCN4A 6329 HP:0003752 Episodic flaccid weakness OMIM:109270 SLC4A1 6521 HP:0001927 Acanthocytosis OMIM:109270 SLC4A1 6521 HP:0002904 Hyperbilirubinemia OMIM:109270 SLC4A1 6521 HP:0004446 Stomatocytosis OMIM:109270 SLC4A1 6521 HP:0005502 Increased red cell osmotic fragility OMIM:109270 SLC4A1 6521 HP:0001744 Splenomegaly OMIM:109270 SLC4A1 6521 HP:0001923 Reticulocytosis OMIM:109270 SLC4A1 6521 HP:0004445 Elliptocytosis OMIM:109270 SLC4A1 6521 HP:0000952 Jaundice OMIM:176500 ITM2B 9445 HP:0002344 Progressive neurologic deterioration OMIM:176500 ITM2B 9445 HP:0001257 Spasticity OMIM:176500 ITM2B 9445 HP:0000006 Autosomal dominant inheritance OMIM:176500 ITM2B 9445 HP:0002063 Rigidity OMIM:176500 ITM2B 9445 HP:0011970 Cerebral amyloid angiopathy OMIM:176500 ITM2B 9445 HP:0001276 Hypertonia OMIM:176500 ITM2B 9445 HP:0000726 Dementia OMIM:176500 ITM2B 9445 HP:0001337 Tremor OMIM:304150 ATP7A 538 HP:0000174 Abnormality of the palate OMIM:304150 ATP7A 538 HP:0100240 Synostosis of joints OMIM:304150 ATP7A 538 HP:0002617 Aneurysm OMIM:304150 ATP7A 538 HP:0000774 Narrow chest OMIM:304150 ATP7A 538 HP:0003276 Pelvic bone exostoses OMIM:304150 ATP7A 538 HP:0000767 Pectus excavatum OMIM:304150 ATP7A 538 HP:0001419 X-linked recessive inheritance OMIM:304150 ATP7A 538 HP:0000126 Hydronephrosis OMIM:304150 ATP7A 538 HP:0001392 Abnormality of the liver OMIM:304150 ATP7A 538 HP:0000926 Platyspondyly OMIM:304150 ATP7A 538 HP:0002862 Bladder carcinoma OMIM:304150 ATP7A 538 HP:0002857 Genu valgum OMIM:304150 ATP7A 538 HP:0000015 Bladder diverticulum OMIM:304150 ATP7A 538 HP:0000974 Hyperextensible skin OMIM:304150 ATP7A 538 HP:0003272 Abnormality of the hip bone OMIM:304150 ATP7A 538 HP:0001582 Redundant skin OMIM:304150 ATP7A 538 HP:0002514 Cerebral calcification OMIM:304150 ATP7A 538 HP:0000987 Atypical scarring of skin OMIM:304150 ATP7A 538 HP:0000010 Recurrent urinary tract infections OMIM:304150 ATP7A 538 HP:0003063 Abnormality of the humerus OMIM:304150 ATP7A 538 HP:0001382 Joint hypermobility OMIM:304150 ATP7A 538 HP:0002797 Osteolysis OMIM:304150 ATP7A 538 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:304150 ATP7A 538 HP:0000275 Narrow face OMIM:304150 ATP7A 538 HP:0001763 Pes planus OMIM:304150 ATP7A 538 HP:0001377 Limited elbow extension OMIM:304150 ATP7A 538 HP:0002028 Chronic diarrhea OMIM:304150 ATP7A 538 HP:0000366 Abnormality of the nose OMIM:304150 ATP7A 538 HP:0000472 Long neck OMIM:304150 ATP7A 538 HP:0100777 Exostoses OMIM:304150 ATP7A 538 HP:0002673 Coxa valga OMIM:304150 ATP7A 538 HP:0002992 Abnormality of the tibia OMIM:304150 ATP7A 538 HP:0002808 Kyphosis OMIM:304150 ATP7A 538 HP:0000494 Downslanted palpebral fissures OMIM:304150 ATP7A 538 HP:0003043 Abnormality of the shoulder OMIM:304150 ATP7A 538 HP:0000343 Long philtrum OMIM:304150 ATP7A 538 HP:0004474 Persistent open anterior fontanelle OMIM:304150 ATP7A 538 HP:0005293 Venous insufficiency OMIM:304150 ATP7A 538 HP:0008872 Feeding difficulties in infancy OMIM:304150 ATP7A 538 HP:0006000 Ureteral obstruction OMIM:304150 ATP7A 538 HP:0002036 Hiatus hernia OMIM:304150 ATP7A 538 HP:0000939 Osteoporosis OMIM:304150 ATP7A 538 HP:0001388 Joint laxity OMIM:304150 ATP7A 538 HP:0000348 High forehead OMIM:304150 ATP7A 538 HP:0005302 Carotid artery tortuosity OMIM:304150 ATP7A 538 HP:0000978 Bruising susceptibility OMIM:304150 ATP7A 538 HP:0000218 High palate OMIM:304150 ATP7A 538 HP:0000768 Pectus carinatum OMIM:304150 ATP7A 538 HP:0004299 Hernia of the abdominal wall OMIM:304150 ATP7A 538 HP:0001241 Capitate-hamate fusion OMIM:304150 ATP7A 538 HP:0002208 Coarse hair OMIM:304150 ATP7A 538 HP:0000885 Broad ribs OMIM:304150 ATP7A 538 HP:0000377 Abnormality of the pinna OMIM:304150 ATP7A 538 HP:0002650 Scoliosis OMIM:304150 ATP7A 538 HP:0001252 Muscular hypotonia OMIM:304150 ATP7A 538 HP:0000916 Broad clavicles OMIM:304150 ATP7A 538 HP:0000894 Short clavicles OMIM:304150 ATP7A 538 HP:0002991 Abnormality of the fibula OMIM:304150 ATP7A 538 HP:0003042 Elbow dislocation OMIM:304150 ATP7A 538 HP:0001278 Orthostatic hypotension OMIM:304150 ATP7A 538 HP:0001156 Brachydactyly syndrome OMIM:304150 ATP7A 538 HP:0005792 Short humerus OMIM:304150 ATP7A 538 HP:0003066 Limited knee extension OMIM:304150 ATP7A 538 HP:0100543 Cognitive impairment OMIM:304150 ATP7A 538 HP:0000444 Convex nasal ridge OMIM:304150 ATP7A 538 HP:0004349 Reduced bone mineral density OMIM:304150 ATP7A 538 HP:0000977 Soft skin OMIM:304150 ATP7A 538 HP:0000276 Long face OMIM:304150 ATP7A 538 HP:0003019 Abnormality of the wrist OMIM:304150 ATP7A 538 HP:0002045 Hypothermia OMIM:601868 COL11A2 1302 HP:0000006 Autosomal dominant inheritance OMIM:601868 COL11A2 1302 HP:0000407 Sensorineural hearing impairment OMIM:238600 LPL 4023 HP:0000007 Autosomal recessive inheritance OMIM:238600 LPL 4023 HP:0001626 Abnormality of the cardiovascular system OMIM:238600 LPL 4023 HP:0001744 Splenomegaly OMIM:238600 LPL 4023 HP:0003124 Hypercholesterolemia OMIM:238600 LPL 4023 HP:0003077 Hyperlipidemia OMIM:238600 LPL 4023 HP:0002018 Nausea OMIM:238600 LPL 4023 HP:0002013 Vomiting OMIM:238600 LPL 4023 HP:0000952 Jaundice OMIM:238600 LPL 4023 HP:0001433 Hepatosplenomegaly OMIM:238600 LPL 4023 HP:0000660 Lipemia retinalis OMIM:238600 LPL 4023 HP:0001733 Pancreatitis OMIM:238600 LPL 4023 HP:0001013 Eruptive xanthomas OMIM:238600 LPL 4023 HP:0012238 Hyperchylomicronemia OMIM:238600 LPL 4023 HP:0002574 Episodic abdominal pain ORPHANET:52416 CCND1 595 HP:0004377 Hematological neoplasm ORPHANET:52416 CCND1 595 HP:0001824 Weight loss ORPHANET:52416 CCND1 595 HP:0002716 Lymphadenopathy ORPHANET:52416 CCND1 595 HP:0001744 Splenomegaly ORPHANET:52416 CCND1 595 HP:0002039 Anorexia ORPHANET:52416 ATM 472 HP:0004377 Hematological neoplasm ORPHANET:52416 ATM 472 HP:0001824 Weight loss ORPHANET:52416 ATM 472 HP:0002716 Lymphadenopathy ORPHANET:52416 ATM 472 HP:0001744 Splenomegaly ORPHANET:52416 ATM 472 HP:0002039 Anorexia OMIM:607499 BDNF 627 HP:0100739 Bulimia OMIM:607499 BDNF 627 HP:0001426 Multifactorial inheritance OMIM:606963 MMP1 4312 HP:0006510 Chronic obstructive pulmonary disease OMIM:600919 ANK2 287 HP:0001657 Prolonged QT interval OMIM:600919 ANK2 287 HP:0001279 Syncope OMIM:600919 ANK2 287 HP:0001688 Sinus bradycardia OMIM:600919 ANK2 287 HP:0000006 Autosomal dominant inheritance OMIM:600919 ANK2 287 HP:0001645 Sudden cardiac death OMIM:600919 ANK2 287 HP:0005110 Atrial fibrillation OMIM:275210 LMNA 4000 HP:0001631 Defect in the atrial septum OMIM:275210 LMNA 4000 HP:0000835 Adrenal hypoplasia OMIM:275210 LMNA 4000 HP:0000962 Hyperkeratosis OMIM:275210 LMNA 4000 HP:0000194 Open mouth OMIM:275210 LMNA 4000 HP:0001511 Intrauterine growth retardation OMIM:275210 LMNA 4000 HP:0002093 Respiratory insufficiency OMIM:275210 LMNA 4000 HP:0007394 Prominent superficial blood vessels OMIM:275210 LMNA 4000 HP:0000176 Submucous cleft hard palate OMIM:275210 LMNA 4000 HP:0000377 Abnormality of the pinna OMIM:275210 LMNA 4000 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:275210 LMNA 4000 HP:0012745 Short palpebral fissure OMIM:275210 LMNA 4000 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:275210 LMNA 4000 HP:0006585 Congenital pseudoarthrosis of the clavicle OMIM:275210 LMNA 4000 HP:0000368 Low-set, posteriorly rotated ears OMIM:275210 LMNA 4000 HP:0011414 Hydropic placenta OMIM:275210 LMNA 4000 HP:0000047 Hypospadias OMIM:275210 LMNA 4000 HP:0000160 Narrow mouth OMIM:275210 LMNA 4000 HP:0100679 Lack of skin elasticity OMIM:275210 LMNA 4000 HP:0000621 Entropion OMIM:275210 LMNA 4000 HP:0002808 Kyphosis OMIM:275210 LMNA 4000 HP:0002751 Kyphoscoliosis OMIM:275210 LMNA 4000 HP:0001799 Short nail OMIM:275210 LMNA 4000 HP:0005474 Decreased calvarial ossification OMIM:275210 LMNA 4000 HP:0200041 Skin erosion OMIM:275210 LMNA 4000 HP:0001643 Patent ductus arteriosus OMIM:275210 LMNA 4000 HP:0001371 Flexion contracture OMIM:275210 LMNA 4000 HP:0000453 Choanal atresia OMIM:275210 LMNA 4000 HP:0005111 Dilatation of the ascending aorta OMIM:275210 LMNA 4000 HP:0000499 Abnormality of the eyelashes OMIM:275210 LMNA 4000 HP:0004540 Congenital, generalized hypertrichosis OMIM:275210 LMNA 4000 HP:0005253 Increased anterioposterior diameter of thorax OMIM:275210 LMNA 4000 HP:0000369 Low-set ears OMIM:275210 LMNA 4000 HP:0000175 Cleft palate OMIM:275210 LMNA 4000 HP:0000581 Blepharophimosis OMIM:275210 LMNA 4000 HP:0001838 Rocker bottom foot OMIM:275210 LMNA 4000 HP:0001788 Premature rupture of membranes OMIM:275210 LMNA 4000 HP:0006645 Thin clavicles OMIM:275210 LMNA 4000 HP:0001696 Situs inversus totalis OMIM:275210 LMNA 4000 HP:0000347 Micrognathia OMIM:275210 LMNA 4000 HP:0001558 Decreased fetal movement OMIM:275210 LMNA 4000 HP:0000534 Abnormality of the eyebrow OMIM:275210 LMNA 4000 HP:0007543 Epidermal hyperkeratosis OMIM:275210 LMNA 4000 HP:0006391 Overtubulated long bones OMIM:275210 LMNA 4000 HP:0003826 Stillbirth OMIM:275210 LMNA 4000 HP:0002089 Pulmonary hypoplasia OMIM:275210 LMNA 4000 HP:0008572 External ear malformation OMIM:275210 LMNA 4000 HP:0000418 Narrow nasal ridge OMIM:275210 LMNA 4000 HP:0100670 Rough bone trabeculation OMIM:275210 LMNA 4000 HP:0000239 Large fontanelles OMIM:275210 LMNA 4000 HP:0001425 Heterogeneous OMIM:275210 LMNA 4000 HP:0000940 Abnormal diaphysis morphology OMIM:275210 LMNA 4000 HP:0100627 Displacement of the external urethral meatus OMIM:275210 LMNA 4000 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:275210 LMNA 4000 HP:0002650 Scoliosis OMIM:275210 LMNA 4000 HP:0000007 Autosomal recessive inheritance OMIM:275210 LMNA 4000 HP:0000834 Abnormality of the adrenal glands OMIM:275210 LMNA 4000 HP:0000653 Sparse eyelashes OMIM:275210 LMNA 4000 HP:0001376 Limitation of joint mobility OMIM:275210 LMNA 4000 HP:0001561 Polyhydramnios OMIM:275210 LMNA 4000 HP:0001196 Short umbilical cord OMIM:275210 LMNA 4000 HP:0001622 Premature birth OMIM:275210 LMNA 4000 HP:0000073 Ureteral duplication OMIM:275210 LMNA 4000 HP:0000316 Hypertelorism OMIM:275210 LMNA 4000 HP:0003196 Short nose OMIM:275210 LMNA 4000 HP:0000695 Natal tooth OMIM:275210 LMNA 4000 HP:0100490 Camptodactyly of finger OMIM:275210 LMNA 4000 HP:0000164 Abnormality of the teeth OMIM:275210 LMNA 4000 HP:0000478 Abnormality of the eye OMIM:275210 ZMPSTE24 10269 HP:0001631 Defect in the atrial septum OMIM:275210 ZMPSTE24 10269 HP:0000835 Adrenal hypoplasia OMIM:275210 ZMPSTE24 10269 HP:0000962 Hyperkeratosis OMIM:275210 ZMPSTE24 10269 HP:0000194 Open mouth OMIM:275210 ZMPSTE24 10269 HP:0001511 Intrauterine growth retardation OMIM:275210 ZMPSTE24 10269 HP:0002093 Respiratory insufficiency OMIM:275210 ZMPSTE24 10269 HP:0007394 Prominent superficial blood vessels OMIM:275210 ZMPSTE24 10269 HP:0000176 Submucous cleft hard palate OMIM:275210 ZMPSTE24 10269 HP:0000377 Abnormality of the pinna OMIM:275210 ZMPSTE24 10269 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:275210 ZMPSTE24 10269 HP:0012745 Short palpebral fissure OMIM:275210 ZMPSTE24 10269 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:275210 ZMPSTE24 10269 HP:0006585 Congenital pseudoarthrosis of the clavicle OMIM:275210 ZMPSTE24 10269 HP:0000368 Low-set, posteriorly rotated ears OMIM:275210 ZMPSTE24 10269 HP:0011414 Hydropic placenta OMIM:275210 ZMPSTE24 10269 HP:0000047 Hypospadias OMIM:275210 ZMPSTE24 10269 HP:0000160 Narrow mouth OMIM:275210 ZMPSTE24 10269 HP:0100679 Lack of skin elasticity OMIM:275210 ZMPSTE24 10269 HP:0000621 Entropion OMIM:275210 ZMPSTE24 10269 HP:0002808 Kyphosis OMIM:275210 ZMPSTE24 10269 HP:0002751 Kyphoscoliosis OMIM:275210 ZMPSTE24 10269 HP:0001799 Short nail OMIM:275210 ZMPSTE24 10269 HP:0005474 Decreased calvarial ossification OMIM:275210 ZMPSTE24 10269 HP:0200041 Skin erosion OMIM:275210 ZMPSTE24 10269 HP:0001643 Patent ductus arteriosus OMIM:275210 ZMPSTE24 10269 HP:0001371 Flexion contracture OMIM:275210 ZMPSTE24 10269 HP:0000453 Choanal atresia OMIM:275210 ZMPSTE24 10269 HP:0005111 Dilatation of the ascending aorta OMIM:275210 ZMPSTE24 10269 HP:0000499 Abnormality of the eyelashes OMIM:275210 ZMPSTE24 10269 HP:0004540 Congenital, generalized hypertrichosis OMIM:275210 ZMPSTE24 10269 HP:0005253 Increased anterioposterior diameter of thorax OMIM:275210 ZMPSTE24 10269 HP:0000369 Low-set ears OMIM:275210 ZMPSTE24 10269 HP:0000175 Cleft palate OMIM:275210 ZMPSTE24 10269 HP:0000581 Blepharophimosis OMIM:275210 ZMPSTE24 10269 HP:0001838 Rocker bottom foot OMIM:275210 ZMPSTE24 10269 HP:0001788 Premature rupture of membranes OMIM:275210 ZMPSTE24 10269 HP:0006645 Thin clavicles OMIM:275210 ZMPSTE24 10269 HP:0001696 Situs inversus totalis OMIM:275210 ZMPSTE24 10269 HP:0000347 Micrognathia OMIM:275210 ZMPSTE24 10269 HP:0001558 Decreased fetal movement OMIM:275210 ZMPSTE24 10269 HP:0000534 Abnormality of the eyebrow OMIM:275210 ZMPSTE24 10269 HP:0007543 Epidermal hyperkeratosis OMIM:275210 ZMPSTE24 10269 HP:0006391 Overtubulated long bones OMIM:275210 ZMPSTE24 10269 HP:0003826 Stillbirth OMIM:275210 ZMPSTE24 10269 HP:0002089 Pulmonary hypoplasia OMIM:275210 ZMPSTE24 10269 HP:0008572 External ear malformation OMIM:275210 ZMPSTE24 10269 HP:0000418 Narrow nasal ridge OMIM:275210 ZMPSTE24 10269 HP:0100670 Rough bone trabeculation OMIM:275210 ZMPSTE24 10269 HP:0000239 Large fontanelles OMIM:275210 ZMPSTE24 10269 HP:0001425 Heterogeneous OMIM:275210 ZMPSTE24 10269 HP:0000940 Abnormal diaphysis morphology OMIM:275210 ZMPSTE24 10269 HP:0100627 Displacement of the external urethral meatus OMIM:275210 ZMPSTE24 10269 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:275210 ZMPSTE24 10269 HP:0002650 Scoliosis OMIM:275210 ZMPSTE24 10269 HP:0000007 Autosomal recessive inheritance OMIM:275210 ZMPSTE24 10269 HP:0000834 Abnormality of the adrenal glands OMIM:275210 ZMPSTE24 10269 HP:0000653 Sparse eyelashes OMIM:275210 ZMPSTE24 10269 HP:0001376 Limitation of joint mobility OMIM:275210 ZMPSTE24 10269 HP:0001561 Polyhydramnios OMIM:275210 ZMPSTE24 10269 HP:0001196 Short umbilical cord OMIM:275210 ZMPSTE24 10269 HP:0001622 Premature birth OMIM:275210 ZMPSTE24 10269 HP:0000073 Ureteral duplication OMIM:275210 ZMPSTE24 10269 HP:0000316 Hypertelorism OMIM:275210 ZMPSTE24 10269 HP:0003196 Short nose OMIM:275210 ZMPSTE24 10269 HP:0000695 Natal tooth OMIM:275210 ZMPSTE24 10269 HP:0100490 Camptodactyly of finger OMIM:275210 ZMPSTE24 10269 HP:0000164 Abnormality of the teeth OMIM:275210 ZMPSTE24 10269 HP:0000478 Abnormality of the eye OMIM:614594 TRPV3 162514 HP:0008404 Nail dystrophy OMIM:614594 TRPV3 162514 HP:0002164 Nail dysplasia OMIM:614594 TRPV3 162514 HP:0001371 Flexion contracture OMIM:614594 TRPV3 162514 HP:0000982 Palmoplantar keratoderma OMIM:614594 TRPV3 162514 HP:0007759 Opacification of the corneal stroma OMIM:614594 TRPV3 162514 HP:0000989 Pruritus OMIM:614594 TRPV3 162514 HP:0000006 Autosomal dominant inheritance OMIM:614594 TRPV3 162514 HP:0007957 Corneal opacity OMIM:614594 TRPV3 162514 HP:0000975 Hyperhidrosis OMIM:614594 TRPV3 162514 HP:0008392 Subungual hyperkeratosis OMIM:614594 TRPV3 162514 HP:0008070 Sparse hair OMIM:614594 TRPV3 162514 HP:0001036 Parakeratosis OMIM:614594 TRPV3 162514 HP:0002289 Alopecia universalis OMIM:211800 NT5E 4907 HP:0003207 Arterial calcification OMIM:211800 NT5E 4907 HP:0000925 Abnormality of the vertebral column OMIM:211800 NT5E 4907 HP:0000007 Autosomal recessive inheritance OMIM:211800 NT5E 4907 HP:0001367 Abnormal joint morphology OMIM:211800 NT5E 4907 HP:0011986 Ectopic ossification OMIM:616025 PIGW 284098 HP:0003155 Elevated alkaline phosphatase OMIM:616025 PIGW 284098 HP:0002521 Hypsarrhythmia OMIM:616025 PIGW 284098 HP:0001263 Global developmental delay OMIM:616025 PIGW 284098 HP:0010804 Tented upper lip vermilion OMIM:616025 PIGW 284098 HP:0000431 Wide nasal bridge OMIM:616025 PIGW 284098 HP:0001249 Intellectual disability OMIM:610163 CD247 919 HP:0002721 Immunodeficiency OMIM:610163 CD247 919 HP:0000007 Autosomal recessive inheritance OMIM:610163 CD247 919 HP:0005353 Susceptibility to herpesvirus OMIM:610163 CD247 919 HP:0004385 Protracted diarrhea OMIM:610163 CD247 919 HP:0001880 Eosinophilia OMIM:610163 CD247 919 HP:0005403 T lymphocytopenia OMIM:127550 TERC 7012 HP:0008404 Nail dystrophy OMIM:127550 TERC 7012 HP:0001328 Specific learning disability OMIM:127550 TERC 7012 HP:0005528 Bone marrow hypocellularity OMIM:127550 TERC 7012 HP:0004334 Dermal atrophy OMIM:127550 TERC 7012 HP:0000006 Autosomal dominant inheritance OMIM:127550 TERC 7012 HP:0002206 Pulmonary fibrosis OMIM:127550 TERC 7012 HP:0001596 Alopecia OMIM:127550 TERC 7012 HP:0001394 Cirrhosis OMIM:127550 TERC 7012 HP:0006739 Squamous cell carcinoma of the skin OMIM:127550 TERC 7012 HP:0007588 Reticular hyperpigmentation OMIM:127550 TERC 7012 HP:0006515 Interstitial pneumonitis OMIM:127550 TERC 7012 HP:0000939 Osteoporosis OMIM:127550 TERC 7012 HP:0001807 Ridged nail OMIM:127550 TERC 7012 HP:0001803 Nail pits OMIM:127550 TERC 7012 HP:0006480 Premature loss of teeth OMIM:127550 TERC 7012 HP:0001888 Lymphopenia OMIM:127550 TERC 7012 HP:0001915 Aplastic anemia OMIM:127550 TERC 7012 HP:0001903 Anemia OMIM:127550 TERC 7012 HP:0003812 Phenotypic variability OMIM:127550 TERC 7012 HP:0000488 Retinopathy OMIM:127550 TERC 7012 HP:0002216 Premature graying of hair OMIM:127550 TERC 7012 HP:0002863 Myelodysplasia OMIM:127550 TERC 7012 HP:0008070 Sparse hair OMIM:127550 TERC 7012 HP:0001251 Ataxia OMIM:127550 TERC 7012 HP:0002745 Oral leukoplakia OMIM:127550 TERC 7012 HP:0000670 Carious teeth OMIM:127550 TERC 7012 HP:0001873 Thrombocytopenia OMIM:127550 TERC 7012 HP:0001321 Cerebellar hypoplasia OMIM:615615 CD3E 916 HP:0000403 Recurrent otitis media OMIM:615615 CD3E 916 HP:0000007 Autosomal recessive inheritance OMIM:615615 CD3E 916 HP:0002205 Recurrent respiratory infections OMIM:615615 CD3E 916 HP:0003593 Infantile onset OMIM:615615 CD3E 916 HP:0003828 Variable expressivity OMIM:615615 CD3E 916 HP:0002721 Immunodeficiency OMIM:615615 CD3E 916 HP:0001888 Lymphopenia OMIM:613353 SH3TC2 79628 HP:0003477 Peripheral axonal neuropathy OMIM:613353 SH3TC2 79628 HP:0000006 Autosomal dominant inheritance OMIM:613353 SH3TC2 79628 HP:0009831 Mononeuropathy OMIM:613353 SH3TC2 79628 HP:0001271 Polyneuropathy OMIM:614222 RAB18 22931 HP:0000568 Microphthalmos OMIM:614222 RAB18 22931 HP:0002079 Hypoplasia of the corpus callosum OMIM:614222 RAB18 22931 HP:0000639 Nystagmus OMIM:614222 RAB18 22931 HP:0001250 Seizures OMIM:614222 RAB18 22931 HP:0000581 Blepharophimosis OMIM:614222 RAB18 22931 HP:0002751 Kyphoscoliosis OMIM:614222 RAB18 22931 HP:0000046 Scrotal hypoplasia OMIM:614222 RAB18 22931 HP:0002714 Downturned corners of mouth OMIM:614222 RAB18 22931 HP:0005484 Postnatal microcephaly OMIM:614222 RAB18 22931 HP:0000347 Micrognathia OMIM:614222 RAB18 22931 HP:0000252 Microcephaly OMIM:614222 RAB18 22931 HP:0004209 Clinodactyly of the 5th finger OMIM:614222 RAB18 22931 HP:0000518 Cataract OMIM:614222 RAB18 22931 HP:0008734 Decreased testicular size OMIM:614222 RAB18 22931 HP:0000248 Brachycephaly OMIM:614222 RAB18 22931 HP:0002126 Polymicrogyria OMIM:614222 RAB18 22931 HP:0003196 Short nose OMIM:614222 RAB18 22931 HP:0000054 Micropenis OMIM:614222 RAB18 22931 HP:0011448 Ankle clonus OMIM:614222 RAB18 22931 HP:0002187 Intellectual disability, profound OMIM:614222 RAB18 22931 HP:0002510 Spastic tetraplegia OMIM:614222 RAB18 22931 HP:0000482 Microcornea OMIM:614222 RAB18 22931 HP:0008897 Postnatal growth retardation OMIM:614222 RAB18 22931 HP:0000189 Narrow palate OMIM:614222 RAB18 22931 HP:0008936 Muscular hypotonia of the trunk OMIM:614222 RAB18 22931 HP:0002119 Ventriculomegaly OMIM:614222 RAB18 22931 HP:0002120 Cerebral cortical atrophy OMIM:614222 RAB18 22931 HP:0000400 Macrotia OMIM:614222 RAB18 22931 HP:0000594 Shallow anterior chamber OMIM:614222 RAB18 22931 HP:0000294 Low anterior hairline OMIM:614222 RAB18 22931 HP:0000007 Autosomal recessive inheritance OMIM:614222 RAB18 22931 HP:0000648 Optic atrophy OMIM:614222 RAB18 22931 HP:0001371 Flexion contracture OMIM:312420 RENBP 5973 HP:0000818 Abnormality of the endocrine system OMIM:312420 RENBP 5973 HP:0001417 X-linked inheritance OMIM:137800 ERBB2 2064 HP:0100843 Glioblastoma OMIM:137800 ERBB2 2064 HP:0001428 Somatic mutation OMIM:137800 ERBB2 2064 HP:0000006 Autosomal dominant inheritance OMIM:137800 ERBB2 2064 HP:0002888 Ependymoma OMIM:137800 ERBB2 2064 HP:0012174 Glioblastoma multiforme OMIM:612998 SYNE1 23345 HP:0005144 Left ventricular septal hypertrophy OMIM:612998 SYNE1 23345 HP:0000467 Neck muscle weakness OMIM:612998 SYNE1 23345 HP:0000006 Autosomal dominant inheritance OMIM:612998 SYNE1 23345 HP:0007126 Proximal amyotrophy OMIM:612998 SYNE1 23345 HP:0011463 Childhood onset OMIM:612998 SYNE1 23345 HP:0003701 Proximal muscle weakness OMIM:612998 SYNE1 23345 HP:0003236 Elevated serum creatine phosphokinase OMIM:612998 SYNE1 23345 HP:0003812 Phenotypic variability OMIM:613661 ALG11 440138 HP:0003642 Type I transferrin isoform profile OMIM:613661 ALG11 440138 HP:0001344 Absent speech OMIM:613661 ALG11 440138 HP:0002013 Vomiting OMIM:613661 ALG11 440138 HP:0002179 Opisthotonus OMIM:613661 ALG11 440138 HP:0003186 Inverted nipples OMIM:613661 ALG11 440138 HP:0001250 Seizures OMIM:613661 ALG11 440138 HP:0000348 High forehead OMIM:613661 ALG11 440138 HP:0011968 Feeding difficulties OMIM:613661 ALG11 440138 HP:0000486 Strabismus OMIM:613661 ALG11 440138 HP:0000407 Sensorineural hearing impairment OMIM:613661 ALG11 440138 HP:0001319 Neonatal hypotonia OMIM:613661 ALG11 440138 HP:0005968 Temperature instability OMIM:613661 ALG11 440138 HP:0001263 Global developmental delay OMIM:613661 ALG11 440138 HP:0000007 Autosomal recessive inheritance OMIM:613661 ALG11 440138 HP:0003593 Infantile onset OMIM:605432 HOXA11 3207 HP:0002986 Radial bowing OMIM:605432 HOXA11 3207 HP:0001905 Congenital thrombocytopenia OMIM:605432 HOXA11 3207 HP:0001903 Anemia OMIM:605432 HOXA11 3207 HP:0000006 Autosomal dominant inheritance OMIM:605432 HOXA11 3207 HP:0004209 Clinodactyly of the 5th finger OMIM:605432 HOXA11 3207 HP:0003182 Shallow acetabular fossae OMIM:605432 HOXA11 3207 HP:0001159 Syndactyly OMIM:605432 HOXA11 3207 HP:0005528 Bone marrow hypocellularity OMIM:605432 HOXA11 3207 HP:0003031 Ulnar bowing OMIM:605432 HOXA11 3207 HP:0001873 Thrombocytopenia OMIM:605432 HOXA11 3207 HP:0006394 Limited pronation/supination of forearm OMIM:605432 HOXA11 3207 HP:0005548 Megakaryocytopenia OMIM:605432 HOXA11 3207 HP:0001915 Aplastic anemia OMIM:605432 HOXA11 3207 HP:0000967 Petechiae OMIM:605432 HOXA11 3207 HP:0000979 Purpura OMIM:605432 HOXA11 3207 HP:0000407 Sensorineural hearing impairment OMIM:605432 HOXA11 3207 HP:0003272 Abnormality of the hip bone OMIM:605432 HOXA11 3207 HP:0002827 Hip dislocation OMIM:605432 HOXA11 3207 HP:0006101 Finger syndactyly OMIM:605432 HOXA11 3207 HP:0002974 Radioulnar synostosis OMIM:605432 HOXA11 3207 HP:0005037 Proximal radio-ulnar synostosis OMIM:610618 F12 2161 HP:0000006 Autosomal dominant inheritance OMIM:610618 F12 2161 HP:0100665 Angioedema OMIM:610618 F12 2161 HP:0012271 Episodic upper airway obstruction OMIM:610618 F12 2161 HP:0002574 Episodic abdominal pain OMIM:610618 F12 2161 HP:0002013 Vomiting OMIM:610618 F12 2161 HP:0005225 Intestinal edema OMIM:309549 FTSJ1 24140 HP:0000750 Delayed speech and language development OMIM:309549 FTSJ1 24140 HP:0001250 Seizures OMIM:309549 FTSJ1 24140 HP:0002194 Delayed gross motor development OMIM:309549 FTSJ1 24140 HP:0005280 Depressed nasal bridge OMIM:309549 FTSJ1 24140 HP:0001417 X-linked inheritance OMIM:309549 FTSJ1 24140 HP:0009832 Abnormality of the distal phalanx of finger OMIM:309549 FTSJ1 24140 HP:0001256 Intellectual disability, mild OMIM:309549 FTSJ1 24140 HP:0000717 Autism OMIM:613677 KCNJ5 3762 HP:0002150 Hypercalciuria OMIM:613677 KCNJ5 3762 HP:0000859 Hyperaldosteronism OMIM:613677 KCNJ5 3762 HP:0000006 Autosomal dominant inheritance OMIM:613677 KCNJ5 3762 HP:0000103 Polyuria OMIM:613677 KCNJ5 3762 HP:0003351 Decreased circulating renin level OMIM:613677 KCNJ5 3762 HP:0002900 Hypokalemia OMIM:613677 KCNJ5 3762 HP:0001942 Metabolic acidosis OMIM:613677 KCNJ5 3762 HP:0000822 Hypertension OMIM:613677 KCNJ5 3762 HP:0008221 Adrenal hyperplasia OMIM:613677 KCNJ5 3762 HP:0001959 Polydipsia OMIM:203700 POLG 5428 HP:0001336 Myoclonus OMIM:203700 POLG 5428 HP:0001414 Microvesicular hepatic steatosis OMIM:203700 POLG 5428 HP:0001252 Muscular hypotonia OMIM:203700 POLG 5428 HP:0000252 Microcephaly OMIM:203700 POLG 5428 HP:0002013 Vomiting OMIM:203700 POLG 5428 HP:0001399 Hepatic failure OMIM:203700 POLG 5428 HP:0002311 Incoordination OMIM:203700 POLG 5428 HP:0002529 Neuronal loss in central nervous system OMIM:203700 POLG 5428 HP:0003535 3-Methylglutaconic aciduria OMIM:203700 POLG 5428 HP:0003678 Rapidly progressive OMIM:203700 POLG 5428 HP:0100704 Cortical visual impairment OMIM:203700 POLG 5428 HP:0004374 Hemiplegia/hemiparesis OMIM:203700 POLG 5428 HP:0001272 Cerebellar atrophy OMIM:203700 POLG 5428 HP:0001250 Seizures OMIM:203700 POLG 5428 HP:0000726 Dementia OMIM:203700 POLG 5428 HP:0001263 Global developmental delay OMIM:203700 POLG 5428 HP:0002910 Elevated hepatic transaminases OMIM:203700 POLG 5428 HP:0001413 Micronodular cirrhosis OMIM:203700 POLG 5428 HP:0002446 Astrocytosis OMIM:203700 POLG 5428 HP:0000572 Visual loss OMIM:203700 POLG 5428 HP:0001408 Bile duct proliferation OMIM:203700 POLG 5428 HP:0001276 Hypertonia OMIM:203700 POLG 5428 HP:0001508 Failure to thrive OMIM:203700 POLG 5428 HP:0100543 Cognitive impairment OMIM:203700 POLG 5428 HP:0100022 Abnormality of movement OMIM:203700 POLG 5428 HP:0002376 Developmental regression OMIM:203700 POLG 5428 HP:0006964 Cerebral cortical neurodegeneration OMIM:203700 POLG 5428 HP:0003593 Infantile onset OMIM:203700 POLG 5428 HP:0003219 Ethylmalonic aciduria OMIM:203700 POLG 5428 HP:0000478 Abnormality of the eye OMIM:203700 POLG 5428 HP:0002171 Gliosis OMIM:203700 POLG 5428 HP:0002240 Hepatomegaly OMIM:203700 POLG 5428 HP:0000007 Autosomal recessive inheritance OMIM:203700 POLG 5428 HP:0000649 Abnormality of vision evoked potentials OMIM:203700 POLG 5428 HP:0012847 Epilepsia partialis continua OMIM:203700 POLG 5428 HP:0003470 Paralysis OMIM:203700 POLG 5428 HP:0002151 Increased serum lactate OMIM:203700 POLG 5428 HP:0002922 Increased CSF protein OMIM:203700 POLG 5428 HP:0001251 Ataxia OMIM:614300 ADK 132 HP:0000407 Sensorineural hearing impairment OMIM:614300 ADK 132 HP:0001396 Cholestasis OMIM:614300 ADK 132 HP:0001786 Narrow foot OMIM:614300 ADK 132 HP:0003202 Skeletal muscle atrophy OMIM:614300 ADK 132 HP:0006580 Portal fibrosis OMIM:614300 ADK 132 HP:0000750 Delayed speech and language development OMIM:614300 ADK 132 HP:0001508 Failure to thrive OMIM:614300 ADK 132 HP:0001631 Defect in the atrial septum OMIM:614300 ADK 132 HP:0000256 Macrocephaly OMIM:614300 ADK 132 HP:0001642 Pulmonic stenosis OMIM:614300 ADK 132 HP:0001263 Global developmental delay OMIM:614300 ADK 132 HP:0002007 Frontal bossing OMIM:614300 ADK 132 HP:0002465 Poor speech OMIM:614300 ADK 132 HP:0002910 Elevated hepatic transaminases OMIM:614300 ADK 132 HP:0001397 Hepatic steatosis OMIM:614300 ADK 132 HP:0001250 Seizures OMIM:614300 ADK 132 HP:0002904 Hyperbilirubinemia OMIM:614300 ADK 132 HP:0001252 Muscular hypotonia OMIM:614300 ADK 132 HP:0003235 Hypermethioninemia OMIM:614300 ADK 132 HP:0000007 Autosomal recessive inheritance OMIM:614300 ADK 132 HP:0001680 Coarctation of aorta OMIM:614300 ADK 132 HP:0000316 Hypertelorism OMIM:614300 ADK 132 HP:0003593 Infantile onset OMIM:614300 ADK 132 HP:0002059 Cerebral atrophy OMIM:614300 ADK 132 HP:0003676 Progressive disorder OMIM:614300 ADK 132 HP:0001410 Decreased liver function OMIM:615709 T 6862 HP:0003468 Abnormality of the vertebrae OMIM:615709 T 6862 HP:0003577 Congenital onset OMIM:615709 T 6862 HP:0000007 Autosomal recessive inheritance OMIM:600974 TMC1 117531 HP:0000407 Sensorineural hearing impairment OMIM:600974 TMC1 117531 HP:0000007 Autosomal recessive inheritance OMIM:253290 CHRNA1 1134 HP:0010306 Short thorax OMIM:253290 CHRNA1 1134 HP:0000776 Congenital diaphragmatic hernia OMIM:253290 CHRNA1 1134 HP:0000175 Cleft palate OMIM:253290 CHRNA1 1134 HP:0001511 Intrauterine growth retardation OMIM:253290 CHRNA1 1134 HP:0002089 Pulmonary hypoplasia OMIM:253290 CHRNA1 1134 HP:0002304 Akinesia OMIM:253290 CHRNA1 1134 HP:0001040 Multiple pterygia OMIM:253290 CHRNA1 1134 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:253290 CHRNA1 1134 HP:0003634 Amyoplasia OMIM:253290 CHRNA1 1134 HP:0000582 Upslanted palpebral fissure OMIM:253290 CHRNA1 1134 HP:0000028 Cryptorchidism OMIM:253290 CHRNA1 1134 HP:0001789 Hydrops fetalis OMIM:253290 CHRNA1 1134 HP:0000347 Micrognathia OMIM:253290 CHRNA1 1134 HP:0002948 Vertebral fusion OMIM:253290 CHRNA1 1134 HP:0000343 Long philtrum OMIM:253290 CHRNA1 1134 HP:0009756 Popliteal pterygium OMIM:253290 CHRNA1 1134 HP:0000476 Cystic hygroma OMIM:253290 CHRNA1 1134 HP:0000457 Depressed nasal ridge OMIM:253290 CHRNA1 1134 HP:0001999 Abnormal facial shape OMIM:253290 CHRNA1 1134 HP:0000969 Edema OMIM:253290 CHRNA1 1134 HP:0000252 Microcephaly OMIM:253290 CHRNA1 1134 HP:0002659 Increased susceptibility to fractures OMIM:253290 CHRNA1 1134 HP:0009381 Short finger OMIM:253290 CHRNA1 1134 HP:0002047 Malignant hyperthermia OMIM:253290 CHRNA1 1134 HP:0000369 Low-set ears OMIM:253290 CHRNA1 1134 HP:0001376 Limitation of joint mobility OMIM:253290 CHRNA1 1134 HP:0001961 Hypoplastic heart OMIM:253290 CHRNA1 1134 HP:0000883 Thin ribs OMIM:253290 CHRNA1 1134 HP:0000316 Hypertelorism OMIM:253290 CHRNA1 1134 HP:0100240 Synostosis of joints OMIM:253290 CHRNA1 1134 HP:0002566 Intestinal malrotation OMIM:253290 CHRNA1 1134 HP:0007477 Abnormal dermatoglyphics OMIM:253290 CHRNA1 1134 HP:0001373 Joint dislocation OMIM:253290 CHRNA1 1134 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:253290 CHRNA1 1134 HP:0001989 Fetal akinesia sequence OMIM:253290 CHRNA1 1134 HP:0100490 Camptodactyly of finger OMIM:253290 CHRNA1 1134 HP:0002804 Arthrogryposis multiplex congenita OMIM:253290 CHRNA1 1134 HP:0000286 Epicanthus OMIM:253290 CHRNA1 1134 HP:0001561 Polyhydramnios OMIM:253290 CHRNA1 1134 HP:0009775 Amniotic constriction ring OMIM:253290 CHRNA1 1134 HP:0000465 Webbed neck OMIM:253290 CHRNA1 1134 HP:0001371 Flexion contracture OMIM:253290 CHRNA1 1134 HP:0000368 Low-set, posteriorly rotated ears OMIM:253290 CHRNA1 1134 HP:0000007 Autosomal recessive inheritance OMIM:253290 CHRNA1 1134 HP:0000366 Abnormality of the nose OMIM:253290 CHRNA1 1134 HP:0010935 Abnormality of the upper urinary tract OMIM:253290 CHRNA1 1134 HP:0002564 Malformation of the heart and great vessels OMIM:253290 CHRNA1 1134 HP:0000160 Narrow mouth OMIM:253290 CHRNA1 1134 HP:0003202 Skeletal muscle atrophy OMIM:253290 CHRNA1 1134 HP:0005905 Abnormal cervical curvature OMIM:253290 CHRNG 1146 HP:0010306 Short thorax OMIM:253290 CHRNG 1146 HP:0000776 Congenital diaphragmatic hernia OMIM:253290 CHRNG 1146 HP:0000175 Cleft palate OMIM:253290 CHRNG 1146 HP:0001511 Intrauterine growth retardation OMIM:253290 CHRNG 1146 HP:0002089 Pulmonary hypoplasia OMIM:253290 CHRNG 1146 HP:0002304 Akinesia OMIM:253290 CHRNG 1146 HP:0001040 Multiple pterygia OMIM:253290 CHRNG 1146 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:253290 CHRNG 1146 HP:0003634 Amyoplasia OMIM:253290 CHRNG 1146 HP:0000582 Upslanted palpebral fissure OMIM:253290 CHRNG 1146 HP:0000028 Cryptorchidism OMIM:253290 CHRNG 1146 HP:0001789 Hydrops fetalis OMIM:253290 CHRNG 1146 HP:0000347 Micrognathia OMIM:253290 CHRNG 1146 HP:0002948 Vertebral fusion OMIM:253290 CHRNG 1146 HP:0000343 Long philtrum OMIM:253290 CHRNG 1146 HP:0009756 Popliteal pterygium OMIM:253290 CHRNG 1146 HP:0000476 Cystic hygroma OMIM:253290 CHRNG 1146 HP:0000457 Depressed nasal ridge OMIM:253290 CHRNG 1146 HP:0001999 Abnormal facial shape OMIM:253290 CHRNG 1146 HP:0000969 Edema OMIM:253290 CHRNG 1146 HP:0000252 Microcephaly OMIM:253290 CHRNG 1146 HP:0002659 Increased susceptibility to fractures OMIM:253290 CHRNG 1146 HP:0009381 Short finger OMIM:253290 CHRNG 1146 HP:0002047 Malignant hyperthermia OMIM:253290 CHRNG 1146 HP:0000369 Low-set ears OMIM:253290 CHRNG 1146 HP:0001376 Limitation of joint mobility OMIM:253290 CHRNG 1146 HP:0001961 Hypoplastic heart OMIM:253290 CHRNG 1146 HP:0000883 Thin ribs OMIM:253290 CHRNG 1146 HP:0000316 Hypertelorism OMIM:253290 CHRNG 1146 HP:0100240 Synostosis of joints OMIM:253290 CHRNG 1146 HP:0002566 Intestinal malrotation OMIM:253290 CHRNG 1146 HP:0007477 Abnormal dermatoglyphics OMIM:253290 CHRNG 1146 HP:0001373 Joint dislocation OMIM:253290 CHRNG 1146 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:253290 CHRNG 1146 HP:0001989 Fetal akinesia sequence OMIM:253290 CHRNG 1146 HP:0100490 Camptodactyly of finger OMIM:253290 CHRNG 1146 HP:0002804 Arthrogryposis multiplex congenita OMIM:253290 CHRNG 1146 HP:0000286 Epicanthus OMIM:253290 CHRNG 1146 HP:0001561 Polyhydramnios OMIM:253290 CHRNG 1146 HP:0009775 Amniotic constriction ring OMIM:253290 CHRNG 1146 HP:0000465 Webbed neck OMIM:253290 CHRNG 1146 HP:0001371 Flexion contracture OMIM:253290 CHRNG 1146 HP:0000368 Low-set, posteriorly rotated ears OMIM:253290 CHRNG 1146 HP:0000007 Autosomal recessive inheritance OMIM:253290 CHRNG 1146 HP:0000366 Abnormality of the nose OMIM:253290 CHRNG 1146 HP:0010935 Abnormality of the upper urinary tract OMIM:253290 CHRNG 1146 HP:0002564 Malformation of the heart and great vessels OMIM:253290 CHRNG 1146 HP:0000160 Narrow mouth OMIM:253290 CHRNG 1146 HP:0003202 Skeletal muscle atrophy OMIM:253290 CHRNG 1146 HP:0005905 Abnormal cervical curvature OMIM:253290 CHRND 1144 HP:0010306 Short thorax OMIM:253290 CHRND 1144 HP:0000776 Congenital diaphragmatic hernia OMIM:253290 CHRND 1144 HP:0000175 Cleft palate OMIM:253290 CHRND 1144 HP:0001511 Intrauterine growth retardation OMIM:253290 CHRND 1144 HP:0002089 Pulmonary hypoplasia OMIM:253290 CHRND 1144 HP:0002304 Akinesia OMIM:253290 CHRND 1144 HP:0001040 Multiple pterygia OMIM:253290 CHRND 1144 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:253290 CHRND 1144 HP:0003634 Amyoplasia OMIM:253290 CHRND 1144 HP:0000582 Upslanted palpebral fissure OMIM:253290 CHRND 1144 HP:0000028 Cryptorchidism OMIM:253290 CHRND 1144 HP:0001789 Hydrops fetalis OMIM:253290 CHRND 1144 HP:0000347 Micrognathia OMIM:253290 CHRND 1144 HP:0002948 Vertebral fusion OMIM:253290 CHRND 1144 HP:0000343 Long philtrum OMIM:253290 CHRND 1144 HP:0009756 Popliteal pterygium OMIM:253290 CHRND 1144 HP:0000476 Cystic hygroma OMIM:253290 CHRND 1144 HP:0000457 Depressed nasal ridge OMIM:253290 CHRND 1144 HP:0001999 Abnormal facial shape OMIM:253290 CHRND 1144 HP:0000969 Edema OMIM:253290 CHRND 1144 HP:0000252 Microcephaly OMIM:253290 CHRND 1144 HP:0002659 Increased susceptibility to fractures OMIM:253290 CHRND 1144 HP:0009381 Short finger OMIM:253290 CHRND 1144 HP:0002047 Malignant hyperthermia OMIM:253290 CHRND 1144 HP:0000369 Low-set ears OMIM:253290 CHRND 1144 HP:0001376 Limitation of joint mobility OMIM:253290 CHRND 1144 HP:0001961 Hypoplastic heart OMIM:253290 CHRND 1144 HP:0000883 Thin ribs OMIM:253290 CHRND 1144 HP:0000316 Hypertelorism OMIM:253290 CHRND 1144 HP:0100240 Synostosis of joints OMIM:253290 CHRND 1144 HP:0002566 Intestinal malrotation OMIM:253290 CHRND 1144 HP:0007477 Abnormal dermatoglyphics OMIM:253290 CHRND 1144 HP:0001373 Joint dislocation OMIM:253290 CHRND 1144 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:253290 CHRND 1144 HP:0001989 Fetal akinesia sequence OMIM:253290 CHRND 1144 HP:0100490 Camptodactyly of finger OMIM:253290 CHRND 1144 HP:0002804 Arthrogryposis multiplex congenita OMIM:253290 CHRND 1144 HP:0000286 Epicanthus OMIM:253290 CHRND 1144 HP:0001561 Polyhydramnios OMIM:253290 CHRND 1144 HP:0009775 Amniotic constriction ring OMIM:253290 CHRND 1144 HP:0000465 Webbed neck OMIM:253290 CHRND 1144 HP:0001371 Flexion contracture OMIM:253290 CHRND 1144 HP:0000368 Low-set, posteriorly rotated ears OMIM:253290 CHRND 1144 HP:0000007 Autosomal recessive inheritance OMIM:253290 CHRND 1144 HP:0000366 Abnormality of the nose OMIM:253290 CHRND 1144 HP:0010935 Abnormality of the upper urinary tract OMIM:253290 CHRND 1144 HP:0002564 Malformation of the heart and great vessels OMIM:253290 CHRND 1144 HP:0000160 Narrow mouth OMIM:253290 CHRND 1144 HP:0003202 Skeletal muscle atrophy OMIM:253290 CHRND 1144 HP:0005905 Abnormal cervical curvature OMIM:609260 MFN2 9927 HP:0003376 Steppage gait OMIM:609260 MFN2 9927 HP:0001268 Mental deterioration OMIM:609260 MFN2 9927 HP:0003829 Incomplete penetrance OMIM:609260 MFN2 9927 HP:0003487 Babinski sign OMIM:609260 MFN2 9927 HP:0000365 Hearing impairment OMIM:609260 MFN2 9927 HP:0001265 Hyporeflexia OMIM:609260 MFN2 9927 HP:0000006 Autosomal dominant inheritance OMIM:609260 MFN2 9927 HP:0003677 Slow progression OMIM:609260 MFN2 9927 HP:0001284 Areflexia OMIM:609260 MFN2 9927 HP:0003383 Onion bulb formation OMIM:609260 MFN2 9927 HP:0003693 Distal amyotrophy OMIM:609260 MFN2 9927 HP:0001761 Pes cavus OMIM:609260 MFN2 9927 HP:0000648 Optic atrophy OMIM:609260 MFN2 9927 HP:0003378 Axonal degeneration/regeneration OMIM:609260 MFN2 9927 HP:0003828 Variable expressivity OMIM:609260 MFN2 9927 HP:0002650 Scoliosis OMIM:609260 MFN2 9927 HP:0003431 Decreased motor nerve conduction velocity OMIM:609260 MFN2 9927 HP:0003384 Peripheral axonal atrophy OMIM:609260 MFN2 9927 HP:0012531 Pain OMIM:609260 MFN2 9927 HP:0001337 Tremor OMIM:609260 MFN2 9927 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:609260 MFN2 9927 HP:0002460 Distal muscle weakness OMIM:609260 MFN2 9927 HP:0001257 Spasticity OMIM:609260 MFN2 9927 HP:0009027 Foot dorsiflexor weakness OMIM:609260 MFN2 9927 HP:0002936 Distal sensory impairment OMIM:609260 MFN2 9927 HP:0001765 Hammertoe OMIM:609260 MFN2 9927 HP:0001347 Hyperreflexia OMIM:609260 MFN2 9927 HP:0000007 Autosomal recessive inheritance OMIM:615982 BBS4 585 HP:0003241 External genital hypoplasia OMIM:615982 BBS4 585 HP:0001249 Intellectual disability OMIM:615982 BBS4 585 HP:0001159 Syndactyly OMIM:615982 BBS4 585 HP:0000107 Renal cyst OMIM:615982 BBS4 585 HP:0000662 Night blindness OMIM:615982 BBS4 585 HP:0001156 Brachydactyly syndrome OMIM:615982 BBS4 585 HP:0000028 Cryptorchidism OMIM:615982 BBS4 585 HP:0010442 Polydactyly OMIM:615982 BBS4 585 HP:0001513 Obesity OMIM:615982 BBS4 585 HP:0000135 Hypogonadism OMIM:615982 BBS4 585 HP:0000546 Retinal degeneration OMIM:615982 BBS4 585 HP:0000164 Abnormality of the teeth OMIM:615982 BBS4 585 HP:0000510 Retinitis pigmentosa OMIM:614961 CHMP1A 5119 HP:0001761 Pes cavus OMIM:614961 CHMP1A 5119 HP:0100704 Cortical visual impairment OMIM:614961 CHMP1A 5119 HP:0002365 Hypoplasia of the brainstem OMIM:614961 CHMP1A 5119 HP:0002079 Hypoplasia of the corpus callosum OMIM:614961 CHMP1A 5119 HP:0000545 Myopia OMIM:614961 CHMP1A 5119 HP:0002465 Poor speech OMIM:614961 CHMP1A 5119 HP:0000540 Hypermetropia OMIM:614961 CHMP1A 5119 HP:0005484 Postnatal microcephaly OMIM:614961 CHMP1A 5119 HP:0000007 Autosomal recessive inheritance OMIM:614961 CHMP1A 5119 HP:0000565 Esotropia OMIM:614961 CHMP1A 5119 HP:0004684 Talipes valgus OMIM:614961 CHMP1A 5119 HP:0000998 Hypertrichosis OMIM:614961 CHMP1A 5119 HP:0003577 Congenital onset OMIM:614961 CHMP1A 5119 HP:0002072 Chorea OMIM:614961 CHMP1A 5119 HP:0001347 Hyperreflexia OMIM:614961 CHMP1A 5119 HP:0002015 Dysphagia OMIM:614961 CHMP1A 5119 HP:0001321 Cerebellar hypoplasia OMIM:614961 CHMP1A 5119 HP:0002804 Arthrogryposis multiplex congenita OMIM:614961 CHMP1A 5119 HP:0008936 Muscular hypotonia of the trunk OMIM:614961 CHMP1A 5119 HP:0001249 Intellectual disability OMIM:614961 CHMP1A 5119 HP:0001263 Global developmental delay OMIM:614961 CHMP1A 5119 HP:0002020 Gastroesophageal reflux OMIM:614961 CHMP1A 5119 HP:0000639 Nystagmus OMIM:614961 CHMP1A 5119 HP:0000483 Astigmatism OMIM:614961 CHMP1A 5119 HP:0001257 Spasticity OMIM:614961 CHMP1A 5119 HP:0001762 Talipes equinovarus OMIM:614961 CHMP1A 5119 HP:0001344 Absent speech OMIM:612158 ACTN2 88 HP:0005110 Atrial fibrillation OMIM:612158 ACTN2 88 HP:0006685 Endocardial fibrosis OMIM:612158 ACTN2 88 HP:0001678 Atrioventricular block OMIM:612158 ACTN2 88 HP:0001695 Cardiac arrest OMIM:612158 ACTN2 88 HP:0000006 Autosomal dominant inheritance OMIM:612158 ACTN2 88 HP:0001712 Left ventricular hypertrophy OMIM:612158 ACTN2 88 HP:0001706 Endocardial fibroelastosis OMIM:612158 ACTN2 88 HP:0001644 Dilated cardiomyopathy ORPHANET:577 GNPTG 84572 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:577 GNPTG 84572 HP:0000175 Cleft palate ORPHANET:577 GNPTG 84572 HP:0003307 Hyperlordosis ORPHANET:577 GNPTG 84572 HP:0007759 Opacification of the corneal stroma ORPHANET:577 GNPTG 84572 HP:0100543 Cognitive impairment ORPHANET:577 GNPTG 84572 HP:0001376 Limitation of joint mobility ORPHANET:577 GNPTG 84572 HP:0001061 Acne ORPHANET:577 GNPTG 84572 HP:0000364 Hearing abnormality ORPHANET:577 GNPTG 84572 HP:0000505 Visual impairment ORPHANET:577 GNPTG 84572 HP:0003272 Abnormality of the hip bone ORPHANET:577 GNPTG 84572 HP:0004349 Reduced bone mineral density ORPHANET:577 GNPTG 84572 HP:0001646 Abnormality of the aortic valve ORPHANET:577 GNPTG 84572 HP:0000280 Coarse facial features ORPHANET:577 GNPTG 84572 HP:0004322 Short stature ORPHANET:577 GNPTG 84572 HP:0000269 Prominent occiput ORPHANET:577 GNPTG 84572 HP:0004299 Hernia of the abdominal wall ORPHANET:577 GNPTG 84572 HP:0004493 Craniofacial hyperostosis ORPHANET:577 GNPTAB 79158 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:577 GNPTAB 79158 HP:0000175 Cleft palate ORPHANET:577 GNPTAB 79158 HP:0003307 Hyperlordosis ORPHANET:577 GNPTAB 79158 HP:0007759 Opacification of the corneal stroma ORPHANET:577 GNPTAB 79158 HP:0100543 Cognitive impairment ORPHANET:577 GNPTAB 79158 HP:0001376 Limitation of joint mobility ORPHANET:577 GNPTAB 79158 HP:0001061 Acne ORPHANET:577 GNPTAB 79158 HP:0000364 Hearing abnormality ORPHANET:577 GNPTAB 79158 HP:0000505 Visual impairment ORPHANET:577 GNPTAB 79158 HP:0003272 Abnormality of the hip bone ORPHANET:577 GNPTAB 79158 HP:0004349 Reduced bone mineral density ORPHANET:577 GNPTAB 79158 HP:0001646 Abnormality of the aortic valve ORPHANET:577 GNPTAB 79158 HP:0000280 Coarse facial features ORPHANET:577 GNPTAB 79158 HP:0004322 Short stature ORPHANET:577 GNPTAB 79158 HP:0000269 Prominent occiput ORPHANET:577 GNPTAB 79158 HP:0004299 Hernia of the abdominal wall ORPHANET:577 GNPTAB 79158 HP:0004493 Craniofacial hyperostosis OMIM:607634 LRP5 4041 HP:0000925 Abnormality of the vertebral column OMIM:607634 LRP5 4041 HP:0002684 Thickened calvaria OMIM:607634 LRP5 4041 HP:0000405 Conductive hearing impairment OMIM:607634 LRP5 4041 HP:0011002 Osteopetrosis OMIM:607634 LRP5 4041 HP:0005789 Generalized osteosclerosis OMIM:607634 LRP5 4041 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:607634 LRP5 4041 HP:0002315 Headache OMIM:607634 LRP5 4041 HP:0000006 Autosomal dominant inheritance OMIM:601552 ASPH 444 HP:0000278 Retrognathia OMIM:601552 ASPH 444 HP:0001999 Abnormal facial shape OMIM:601552 ASPH 444 HP:0001083 Ectopia lentis OMIM:601552 ASPH 444 HP:0000689 Dental malocclusion OMIM:601552 ASPH 444 HP:0000444 Convex nasal ridge OMIM:601552 ASPH 444 HP:0003683 Large beaked nose OMIM:601552 ASPH 444 HP:0000494 Downslanted palpebral fissures OMIM:601552 ASPH 444 HP:0000007 Autosomal recessive inheritance OMIM:601552 ASPH 444 HP:0000445 Wide nose OMIM:601552 ASPH 444 HP:0001089 Iris atrophy OMIM:601552 ASPH 444 HP:0000448 Prominent nose OMIM:277610 COL11A2 1302 HP:0000006 Autosomal dominant inheritance OMIM:277610 COL11A2 1302 HP:0000316 Hypertelorism OMIM:277610 COL11A2 1302 HP:0000201 Pierre-Robin sequence OMIM:277610 COL11A2 1302 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:277610 COL11A2 1302 HP:0010580 Enlarged epiphyses OMIM:277610 COL11A2 1302 HP:0008905 Rhizomelia OMIM:277610 COL11A2 1302 HP:0000175 Cleft palate OMIM:277610 COL11A2 1302 HP:0000347 Micrognathia OMIM:277610 COL11A2 1302 HP:0000520 Proptosis OMIM:277610 COL11A2 1302 HP:0005280 Depressed nasal bridge OMIM:277610 COL11A2 1302 HP:0000947 Dumbbell-shaped long bone OMIM:277610 COL11A2 1302 HP:0000407 Sensorineural hearing impairment OMIM:277610 COL11A2 1302 HP:0001263 Global developmental delay OMIM:277610 COL11A2 1302 HP:0003417 Coronal cleft vertebrae OMIM:201400 TBX19 9095 HP:0008163 Decreased circulating cortisol level OMIM:201400 TBX19 9095 HP:0000835 Adrenal hypoplasia OMIM:201400 TBX19 9095 HP:0011748 Adrenocorticotropic hormone deficiency OMIM:201400 TBX19 9095 HP:0000007 Autosomal recessive inheritance OMIM:201400 TBX19 9095 HP:0003162 Fasting hypoglycemia OMIM:610189 CEP290 80184 HP:0003774 Stage 5 chronic kidney disease OMIM:610189 CEP290 80184 HP:0000547 Tapetoretinal degeneration OMIM:610189 CEP290 80184 HP:0000707 Abnormality of the nervous system OMIM:610189 CEP290 80184 HP:0000007 Autosomal recessive inheritance OMIM:610189 CEP290 80184 HP:0000505 Visual impairment OMIM:614434 FBLN5 10516 HP:0001653 Mitral regurgitation OMIM:614434 FBLN5 10516 HP:0000973 Cutis laxa OMIM:614434 FBLN5 10516 HP:0100678 Premature skin wrinkling OMIM:614434 FBLN5 10516 HP:0002650 Scoliosis OMIM:614434 FBLN5 10516 HP:0000006 Autosomal dominant inheritance ORPHANET:90653 COL2A1 1280 HP:0000175 Cleft palate ORPHANET:90653 COL2A1 1280 HP:0000545 Myopia ORPHANET:90653 COL2A1 1280 HP:0001519 Disproportionate tall stature ORPHANET:90653 COL2A1 1280 HP:0002758 Osteoarthritis ORPHANET:90653 COL2A1 1280 HP:0100543 Cognitive impairment ORPHANET:90653 COL2A1 1280 HP:0002652 Skeletal dysplasia ORPHANET:90653 COL2A1 1280 HP:0000541 Retinal detachment ORPHANET:90653 COL2A1 1280 HP:0000518 Cataract ORPHANET:90653 COL2A1 1280 HP:0000926 Platyspondyly ORPHANET:90653 COL2A1 1280 HP:0003196 Short nose ORPHANET:90653 COL2A1 1280 HP:0002829 Arthralgia ORPHANET:90653 COL2A1 1280 HP:0000343 Long philtrum ORPHANET:90653 COL2A1 1280 HP:0001633 Abnormality of the mitral valve ORPHANET:90653 COL2A1 1280 HP:0100734 Abnormality of vertebral epiphysis morphology ORPHANET:90653 COL2A1 1280 HP:0000407 Sensorineural hearing impairment ORPHANET:90653 COL2A1 1280 HP:0004327 Abnormality of the vitreous humor ORPHANET:90653 COL2A1 1280 HP:0000505 Visual impairment ORPHANET:90653 COL2A1 1280 HP:0000520 Proptosis ORPHANET:90653 COL2A1 1280 HP:0001382 Joint hypermobility OMIM:244400 DNAI1 27019 HP:0100582 Nasal polyposis OMIM:244400 DNAI1 27019 HP:0000007 Autosomal recessive inheritance OMIM:244400 DNAI1 27019 HP:0000458 Anosmia OMIM:244400 DNAI1 27019 HP:0000246 Sinusitis OMIM:244400 DNAI1 27019 HP:0003251 Male infertility OMIM:244400 DNAI1 27019 HP:0012263 Immotile cilia OMIM:244400 DNAI1 27019 HP:0002110 Bronchiectasis OMIM:244400 DNAI1 27019 HP:0000405 Conductive hearing impairment OMIM:244400 DNAI1 27019 HP:0001334 Communicating hydrocephalus OMIM:244400 DNAI1 27019 HP:0002315 Headache OMIM:244400 DNAI1 27019 HP:0001746 Asplenia OMIM:244400 DNAI1 27019 HP:0001696 Situs inversus totalis OMIM:244400 DNAI1 27019 HP:0000481 Abnormality of the cornea OMIM:244400 DNAI1 27019 HP:0011109 Chronic sinusitis OMIM:244400 DNAI1 27019 HP:0002257 Chronic rhinitis OMIM:244400 DNAI1 27019 HP:0001425 Heterogeneous OMIM:244400 DNAI1 27019 HP:0002090 Pneumonia OMIM:244400 DNAI1 27019 HP:0005938 Abnormal respiratory motile cilium morphology OMIM:244400 DNAI1 27019 HP:0000389 Chronic otitis media OMIM:244400 DNAI1 27019 HP:0012265 Ciliary dyskinesia OMIM:244400 DNAI1 27019 HP:0002688 Absent frontal sinuses OMIM:223800 DYM 54808 HP:0000007 Autosomal recessive inheritance OMIM:223800 DYM 54808 HP:0010743 Short metatarsal OMIM:223800 DYM 54808 HP:0003375 Narrow greater sacrosciatic notches OMIM:223800 DYM 54808 HP:0001498 Carpal bone hypoplasia OMIM:223800 DYM 54808 HP:0000911 Flat glenoid fossa OMIM:223800 DYM 54808 HP:0002515 Waddling gait OMIM:223800 DYM 54808 HP:0006450 Multicentric ossification of proximal femoral epiphyses OMIM:223800 DYM 54808 HP:0002692 Hypoplastic facial bones OMIM:223800 DYM 54808 HP:0008905 Rhizomelia OMIM:223800 DYM 54808 HP:0002938 Lumbar hyperlordosis OMIM:223800 DYM 54808 HP:0000884 Prominent sternum OMIM:223800 DYM 54808 HP:0003311 Hypoplasia of the odontoid process OMIM:223800 DYM 54808 HP:0000914 Shield chest OMIM:223800 DYM 54808 HP:0003521 Disproportionate short-trunk short stature OMIM:223800 DYM 54808 HP:0000920 Enlargement of the costochondral junction OMIM:223800 DYM 54808 HP:0001169 Broad palm OMIM:223800 DYM 54808 HP:0000882 Hypoplastic scapulae OMIM:223800 DYM 54808 HP:0000280 Coarse facial features OMIM:223800 DYM 54808 HP:0002942 Thoracic kyphosis OMIM:223800 DYM 54808 HP:0002857 Genu valgum OMIM:223800 DYM 54808 HP:0011344 Severe global developmental delay OMIM:223800 DYM 54808 HP:0003183 Wide pubic symphysis OMIM:223800 DYM 54808 HP:0002684 Thickened calvaria OMIM:223800 DYM 54808 HP:0001552 Barrel-shaped chest OMIM:223800 DYM 54808 HP:0010230 Cone-shaped epiphyses of the phalanges of the hand OMIM:223800 DYM 54808 HP:0008897 Postnatal growth retardation OMIM:223800 DYM 54808 HP:0003180 Flat acetabular roof OMIM:223800 DYM 54808 HP:0000926 Platyspondyly OMIM:223800 DYM 54808 HP:0002681 Deformed sella turcica OMIM:223800 DYM 54808 HP:0000470 Short neck OMIM:223800 DYM 54808 HP:0001769 Broad foot OMIM:223800 DYM 54808 HP:0004568 Beaking of vertebral bodies OMIM:223800 DYM 54808 HP:0010049 Short metacarpal OMIM:223800 DYM 54808 HP:0000252 Microcephaly OMIM:223800 DYM 54808 HP:0002650 Scoliosis OMIM:223800 DYM 54808 HP:0000303 Mandibular prognathia OMIM:223800 DYM 54808 HP:0004997 Multicentric ossification of proximal humeral epiphyses OMIM:223800 DYM 54808 HP:0012385 Camptodactyly OMIM:223800 DYM 54808 HP:0002866 Hypoplastic iliac wing OMIM:223800 DYM 54808 HP:0008786 Iliac crest serration OMIM:151050 PTDSS1 9791 HP:0000682 Abnormality of dental enamel OMIM:151050 PTDSS1 9791 HP:0000316 Hypertelorism OMIM:151050 PTDSS1 9791 HP:0000047 Hypospadias OMIM:151050 PTDSS1 9791 HP:0000973 Cutis laxa OMIM:151050 PTDSS1 9791 HP:0000023 Inguinal hernia OMIM:151050 PTDSS1 9791 HP:0000632 Lacrimation abnormality OMIM:151050 PTDSS1 9791 HP:0000772 Abnormality of the ribs OMIM:151050 PTDSS1 9791 HP:0000916 Broad clavicles OMIM:151050 PTDSS1 9791 HP:0000337 Broad forehead OMIM:151050 PTDSS1 9791 HP:0001508 Failure to thrive OMIM:151050 PTDSS1 9791 HP:0000171 Microglossia OMIM:151050 PTDSS1 9791 HP:0001511 Intrauterine growth retardation OMIM:151050 PTDSS1 9791 HP:0100627 Displacement of the external urethral meatus OMIM:151050 PTDSS1 9791 HP:0000452 Choanal stenosis OMIM:151050 PTDSS1 9791 HP:0000252 Microcephaly OMIM:151050 PTDSS1 9791 HP:0000965 Cutis marmorata OMIM:151050 PTDSS1 9791 HP:0005477 Progressive sclerosis of skull base OMIM:151050 PTDSS1 9791 HP:0005019 Diaphyseal thickening OMIM:151050 PTDSS1 9791 HP:0004482 Relative macrocephaly OMIM:151050 PTDSS1 9791 HP:0001382 Joint hypermobility OMIM:151050 PTDSS1 9791 HP:0000256 Macrocephaly OMIM:151050 PTDSS1 9791 HP:0006380 Knee flexion contracture OMIM:151050 PTDSS1 9791 HP:0008070 Sparse hair OMIM:151050 PTDSS1 9791 HP:0001376 Limitation of joint mobility OMIM:151050 PTDSS1 9791 HP:0000028 Cryptorchidism OMIM:151050 PTDSS1 9791 HP:0000400 Macrotia OMIM:151050 PTDSS1 9791 HP:0000889 Abnormality of the clavicle OMIM:151050 PTDSS1 9791 HP:0000154 Wide mouth OMIM:151050 PTDSS1 9791 HP:0003103 Abnormal cortical bone morphology OMIM:151050 PTDSS1 9791 HP:0002750 Delayed skeletal maturation OMIM:151050 PTDSS1 9791 HP:0001252 Muscular hypotonia OMIM:151050 PTDSS1 9791 HP:0000407 Sensorineural hearing impairment OMIM:151050 PTDSS1 9791 HP:0009773 Symphalangism affecting the phalanges of the hand OMIM:151050 PTDSS1 9791 HP:0004322 Short stature OMIM:151050 PTDSS1 9791 HP:0004493 Craniofacial hyperostosis OMIM:151050 PTDSS1 9791 HP:0000453 Choanal atresia OMIM:151050 PTDSS1 9791 HP:0003745 Sporadic OMIM:151050 PTDSS1 9791 HP:0011001 Increased bone mineral density OMIM:151050 PTDSS1 9791 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:151050 PTDSS1 9791 HP:0000270 Delayed cranial suture closure OMIM:151050 PTDSS1 9791 HP:0006101 Finger syndactyly OMIM:151050 PTDSS1 9791 HP:0000175 Cleft palate OMIM:151050 PTDSS1 9791 HP:0000963 Thin skin OMIM:151050 PTDSS1 9791 HP:0003015 Flared metaphysis OMIM:151050 PTDSS1 9791 HP:0003041 Humeroradial synostosis OMIM:151050 PTDSS1 9791 HP:0009843 Aplasia/Hypoplasia of the middle phalanges of the hand OMIM:151050 PTDSS1 9791 HP:0001545 Anteriorly placed anus OMIM:151050 PTDSS1 9791 HP:0100543 Cognitive impairment OMIM:151050 PTDSS1 9791 HP:0007678 Lacrimal duct stenosis OMIM:151050 PTDSS1 9791 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:151050 PTDSS1 9791 HP:0000303 Mandibular prognathia OMIM:151050 PTDSS1 9791 HP:0001043 Prominent scalp veins OMIM:151050 PTDSS1 9791 HP:0004299 Hernia of the abdominal wall OMIM:151050 PTDSS1 9791 HP:0010628 Facial palsy OMIM:151050 PTDSS1 9791 HP:0002808 Kyphosis OMIM:151050 PTDSS1 9791 HP:0000041 Chordee OMIM:151050 PTDSS1 9791 HP:0001159 Syndactyly OMIM:151050 PTDSS1 9791 HP:0002987 Elbow flexion contracture OMIM:151050 PTDSS1 9791 HP:0002007 Frontal bossing OMIM:151050 PTDSS1 9791 HP:0000885 Broad ribs OMIM:151050 PTDSS1 9791 HP:0002342 Intellectual disability, moderate OMIM:151050 PTDSS1 9791 HP:0000238 Hydrocephalus OMIM:151050 PTDSS1 9791 HP:0002650 Scoliosis OMIM:151050 PTDSS1 9791 HP:0000164 Abnormality of the teeth OMIM:151050 PTDSS1 9791 HP:0000006 Autosomal dominant inheritance OMIM:151050 PTDSS1 9791 HP:0011220 Prominent forehead OMIM:151050 PTDSS1 9791 HP:0001156 Brachydactyly syndrome OMIM:151050 PTDSS1 9791 HP:0001163 Abnormality of the metacarpal bones OMIM:151050 PTDSS1 9791 HP:0000347 Micrognathia OMIM:151050 PTDSS1 9791 HP:0006152 Proximal symphalangism (hands) OMIM:151050 PTDSS1 9791 HP:0001249 Intellectual disability OMIM:151050 PTDSS1 9791 HP:0001187 Hyperextensibility of the finger joints OMIM:151050 PTDSS1 9791 HP:0001231 Abnormality of the fingernails OMIM:151050 PTDSS1 9791 HP:0000944 Abnormality of the metaphyses OMIM:151050 PTDSS1 9791 HP:0007495 Prematurely aged appearance OMIM:151050 PTDSS1 9791 HP:0001274 Agenesis of corpus callosum OMIM:151050 PTDSS1 9791 HP:0000179 Thick lower lip vermilion OMIM:151050 PTDSS1 9791 HP:0000239 Large fontanelles OMIM:146800 KRT2 3849 HP:0000006 Autosomal dominant inheritance OMIM:146800 KRT2 3849 HP:0007475 Congenital bullous ichthyosiform erythroderma OMIM:146800 KRT2 3849 HP:0100792 Acantholysis OMIM:146800 KRT2 3849 HP:0000969 Edema OMIM:146800 KRT2 3849 HP:0000963 Thin skin OMIM:146800 KRT2 3849 HP:0000982 Palmoplantar keratoderma OMIM:146800 KRT2 3849 HP:0008066 Abnormal blistering of the skin OMIM:614207 PGAP2 27315 HP:0010864 Intellectual disability, severe OMIM:614207 PGAP2 27315 HP:0003577 Congenital onset OMIM:614207 PGAP2 27315 HP:0001252 Muscular hypotonia OMIM:614207 PGAP2 27315 HP:0000252 Microcephaly OMIM:614207 PGAP2 27315 HP:0000007 Autosomal recessive inheritance OMIM:614207 PGAP2 27315 HP:0003155 Elevated alkaline phosphatase OMIM:614207 PGAP2 27315 HP:0001263 Global developmental delay OMIM:614207 PGAP2 27315 HP:0001250 Seizures OMIM:614207 PGAP2 27315 HP:0002905 Hyperphosphatemia OMIM:614207 PGAP2 27315 HP:0001256 Intellectual disability, mild OMIM:614207 PGAP2 27315 HP:0002059 Cerebral atrophy OMIM:121900 TGFBI 7045 HP:0007802 Granular corneal dystrophy OMIM:121900 TGFBI 7045 HP:0000486 Strabismus OMIM:121900 TGFBI 7045 HP:0000006 Autosomal dominant inheritance OMIM:121900 TGFBI 7045 HP:0007809 Punctate corneal dystrophy OMIM:121900 TGFBI 7045 HP:0007827 Nodular corneal dystrophy OMIM:121900 TGFBI 7045 HP:0000518 Cataract OMIM:605231 MKKS 8195 HP:0001249 Intellectual disability OMIM:605231 MKKS 8195 HP:0001159 Syndactyly OMIM:605231 MKKS 8195 HP:0000107 Renal cyst OMIM:605231 MKKS 8195 HP:0010442 Polydactyly OMIM:605231 MKKS 8195 HP:0003241 External genital hypoplasia OMIM:605231 MKKS 8195 HP:0000556 Retinal dystrophy OMIM:605231 MKKS 8195 HP:0000510 Retinitis pigmentosa OMIM:605231 MKKS 8195 HP:0001513 Obesity OMIM:605231 MKKS 8195 HP:0000047 Hypospadias OMIM:605231 MKKS 8195 HP:0000819 Diabetes mellitus OMIM:614972 ABCB4 5244 HP:0001406 Intrahepatic cholestasis OMIM:614972 ABCB4 5244 HP:0200148 Abnormal liver function tests during pregnancy OMIM:614972 ABCB4 5244 HP:0001622 Premature birth OMIM:614972 ABCB4 5244 HP:0000007 Autosomal recessive inheritance OMIM:614972 ABCB4 5244 HP:0000989 Pruritus OMIM:614972 ABCB4 5244 HP:0000952 Jaundice OMIM:614972 ABCB4 5244 HP:0200150 Increased serum bile acid concentration during pregnancy OMIM:614972 ABCB4 5244 HP:0000006 Autosomal dominant inheritance OMIM:613956 IL17F 112744 HP:0002728 Chronic mucocutaneous candidiasis OMIM:613956 IL17F 112744 HP:0000006 Autosomal dominant inheritance OMIM:153640 MYH9 4627 HP:0000093 Proteinuria OMIM:153640 MYH9 4627 HP:0008264 Neutrophil inclusion bodies OMIM:153640 MYH9 4627 HP:0000978 Bruising susceptibility OMIM:153640 MYH9 4627 HP:0001873 Thrombocytopenia OMIM:153640 MYH9 4627 HP:0001902 Giant platelets OMIM:153640 MYH9 4627 HP:0000123 Nephritis OMIM:153640 MYH9 4627 HP:0000519 Congenital cataract OMIM:153640 MYH9 4627 HP:0003774 Stage 5 chronic kidney disease OMIM:153640 MYH9 4627 HP:0001757 High-frequency sensorineural hearing impairment OMIM:153640 MYH9 4627 HP:0003010 Prolonged bleeding time OMIM:153640 MYH9 4627 HP:0000132 Menorrhagia OMIM:153640 MYH9 4627 HP:0000790 Hematuria OMIM:153640 MYH9 4627 HP:0001892 Abnormal bleeding OMIM:153640 MYH9 4627 HP:0000006 Autosomal dominant inheritance OMIM:615548 SCN11A 11280 HP:0001324 Muscle weakness OMIM:615548 SCN11A 11280 HP:0000975 Hyperhidrosis OMIM:615548 SCN11A 11280 HP:0002019 Constipation OMIM:615548 SCN11A 11280 HP:0002459 Dysautonomia OMIM:615548 SCN11A 11280 HP:0002014 Diarrhea OMIM:615548 SCN11A 11280 HP:0000006 Autosomal dominant inheritance OMIM:615548 SCN11A 11280 HP:0007021 Pain insensitivity OMIM:615548 SCN11A 11280 HP:0001270 Motor delay OMIM:209300 TF 7018 HP:0001931 Hypochromic anemia OMIM:209300 TF 7018 HP:0000821 Hypothyroidism OMIM:209300 TF 7018 HP:0001392 Abnormality of the liver OMIM:209300 TF 7018 HP:0000007 Autosomal recessive inheritance OMIM:209300 TF 7018 HP:0012239 Atransferrinemia OMIM:209300 TF 7018 HP:0010978 Abnormality of immune system physiology OMIM:209300 TF 7018 HP:0001732 Abnormality of the pancreas OMIM:209300 TF 7018 HP:0001635 Congestive heart failure OMIM:209300 TF 7018 HP:0001369 Arthritis OMIM:615595 LYRM4 57128 HP:0011968 Feeding difficulties OMIM:615595 LYRM4 57128 HP:0000007 Autosomal recessive inheritance OMIM:615595 LYRM4 57128 HP:0002098 Respiratory distress OMIM:615595 LYRM4 57128 HP:0001508 Failure to thrive OMIM:615595 LYRM4 57128 HP:0001397 Hepatic steatosis OMIM:615595 LYRM4 57128 HP:0001319 Neonatal hypotonia OMIM:615595 LYRM4 57128 HP:0003128 Lactic acidosis OMIM:613224 NRAS 4893 HP:0001256 Intellectual disability, mild OMIM:613224 NRAS 4893 HP:0004322 Short stature OMIM:613224 NRAS 4893 HP:0001642 Pulmonic stenosis OMIM:613224 NRAS 4893 HP:0000028 Cryptorchidism OMIM:613224 NRAS 4893 HP:0000316 Hypertelorism OMIM:613224 NRAS 4893 HP:0000545 Myopia OMIM:613224 NRAS 4893 HP:0000750 Delayed speech and language development OMIM:613224 NRAS 4893 HP:0001290 Generalized hypotonia OMIM:613224 NRAS 4893 HP:0000962 Hyperkeratosis OMIM:613224 NRAS 4893 HP:0000369 Low-set ears OMIM:613224 NRAS 4893 HP:0002212 Curly hair OMIM:613224 NRAS 4893 HP:0001555 Asymmetry of the thorax OMIM:613224 NRAS 4893 HP:0000465 Webbed neck OMIM:613224 NRAS 4893 HP:0001639 Hypertrophic cardiomyopathy OMIM:613224 NRAS 4893 HP:0000256 Macrocephaly OMIM:616300 CEP120 153241 HP:0000773 Short ribs OMIM:616300 CEP120 153241 HP:0000774 Narrow chest OMIM:616300 CEP120 153241 HP:0000888 Horizontal ribs OMIM:616300 CEP120 153241 HP:0000308 Microretrognathia OMIM:616300 CEP120 153241 HP:0004482 Relative macrocephaly OMIM:616300 CEP120 153241 HP:0000089 Renal hypoplasia OMIM:616300 CEP120 153241 HP:0100258 Preaxial polydactyly OMIM:616300 CEP120 153241 HP:0008839 Hypoplastic pelvis OMIM:616300 CEP120 153241 HP:0000400 Macrotia OMIM:616300 CEP120 153241 HP:0011315 Unicoronal synostosis OMIM:616300 CEP120 153241 HP:0000028 Cryptorchidism OMIM:616300 CEP120 153241 HP:0001643 Patent ductus arteriosus OMIM:616300 CEP120 153241 HP:0001591 Bell-shaped thorax OMIM:616300 CEP120 153241 HP:0011800 Midface retrusion OMIM:616300 CEP120 153241 HP:0000062 Ambiguous genitalia OMIM:616300 CEP120 153241 HP:0000280 Coarse facial features OMIM:616300 CEP120 153241 HP:0000448 Prominent nose OMIM:616300 CEP120 153241 HP:0003180 Flat acetabular roof OMIM:616300 CEP120 153241 HP:0002093 Respiratory insufficiency OMIM:616300 CEP120 153241 HP:0002089 Pulmonary hypoplasia OMIM:616300 CEP120 153241 HP:0000316 Hypertelorism OMIM:616300 CEP120 153241 HP:0001539 Omphalocele OMIM:616300 CEP120 153241 HP:0000695 Natal tooth OMIM:311250 OTC 5009 HP:0001508 Failure to thrive OMIM:311250 OTC 5009 HP:0003572 Low plasma citrulline OMIM:311250 OTC 5009 HP:0000737 Irritability OMIM:311250 OTC 5009 HP:0003217 Hyperglutaminemia OMIM:311250 OTC 5009 HP:0001250 Seizures OMIM:311250 OTC 5009 HP:0002021 Pyloric stenosis OMIM:311250 OTC 5009 HP:0002013 Vomiting OMIM:311250 OTC 5009 HP:0001259 Coma OMIM:311250 OTC 5009 HP:0001254 Lethargy OMIM:311250 OTC 5009 HP:0001419 X-linked recessive inheritance OMIM:311250 OTC 5009 HP:0001263 Global developmental delay OMIM:311250 OTC 5009 HP:0002181 Cerebral edema OMIM:311250 OTC 5009 HP:0001950 Respiratory alkalosis OMIM:311250 OTC 5009 HP:0001399 Hepatic failure OMIM:311250 OTC 5009 HP:0002131 Episodic ataxia OMIM:311250 OTC 5009 HP:0001744 Splenomegaly OMIM:311250 OTC 5009 HP:0002038 Protein avoidance OMIM:311250 OTC 5009 HP:0001987 Hyperammonemia OMIM:311250 OTC 5009 HP:0001249 Intellectual disability OMIM:311250 OTC 5009 HP:0001297 Stroke OMIM:311250 OTC 5009 HP:0003355 Aminoaciduria OMIM:311250 OTC 5009 HP:0001951 Episodic ammonia intoxication OMIM:311250 OTC 5009 HP:0001943 Hypoglycemia OMIM:603585 SLC35A1 10559 HP:0000007 Autosomal recessive inheritance OMIM:603585 SLC35A1 10559 HP:0001873 Thrombocytopenia OMIM:603585 SLC35A1 10559 HP:0002718 Recurrent bacterial infections OMIM:603585 SLC35A1 10559 HP:0003593 Infantile onset OMIM:603585 SLC35A1 10559 HP:0001875 Neutropenia OMIM:235700 HK1 3098 HP:0001897 Normocytic anemia OMIM:235700 HK1 3098 HP:0001930 Nonspherocytic hemolytic anemia OMIM:235700 HK1 3098 HP:0001895 Normochromic anemia OMIM:235700 HK1 3098 HP:0001081 Cholelithiasis OMIM:235700 HK1 3098 HP:0001744 Splenomegaly OMIM:235700 HK1 3098 HP:0003577 Congenital onset OMIM:235700 HK1 3098 HP:0001923 Reticulocytosis OMIM:235700 HK1 3098 HP:0000952 Jaundice OMIM:235700 HK1 3098 HP:0002904 Hyperbilirubinemia OMIM:235700 HK1 3098 HP:0000007 Autosomal recessive inheritance OMIM:235700 HK1 3098 HP:0001082 Cholecystitis OMIM:600251 SPECC1L 23384 HP:0000589 Coloboma OMIM:600251 SPECC1L 23384 HP:0002006 Facial cleft OMIM:600251 SPECC1L 23384 HP:0006191 Deep palmar crease OMIM:600251 SPECC1L 23384 HP:0000175 Cleft palate OMIM:600251 SPECC1L 23384 HP:0000007 Autosomal recessive inheritance OMIM:600251 SPECC1L 23384 HP:0000204 Cleft upper lip OMIM:600251 SPECC1L 23384 HP:0000924 Abnormality of the skeletal system OMIM:278250 ATP6V0A2 23545 HP:0009124 Abnormality of adipose tissue OMIM:278250 ATP6V0A2 23545 HP:0000253 Progressive microcephaly OMIM:278250 ATP6V0A2 23545 HP:0007517 Palmoplantar cutis laxa OMIM:278250 ATP6V0A2 23545 HP:0000270 Delayed cranial suture closure OMIM:278250 ATP6V0A2 23545 HP:0000670 Carious teeth OMIM:278250 ATP6V0A2 23545 HP:0001537 Umbilical hernia OMIM:278250 ATP6V0A2 23545 HP:0100679 Lack of skin elasticity OMIM:278250 ATP6V0A2 23545 HP:0003160 Abnormal isoelectric focusing of serum transferrin OMIM:278250 ATP6V0A2 23545 HP:0001788 Premature rupture of membranes OMIM:278250 ATP6V0A2 23545 HP:0000973 Cutis laxa OMIM:278250 ATP6V0A2 23545 HP:0000750 Delayed speech and language development OMIM:278250 ATP6V0A2 23545 HP:0000958 Dry skin OMIM:278250 ATP6V0A2 23545 HP:0001508 Failure to thrive OMIM:278250 ATP6V0A2 23545 HP:0000582 Upslanted palpebral fissure OMIM:278250 ATP6V0A2 23545 HP:0000269 Prominent occiput OMIM:278250 ATP6V0A2 23545 HP:0001382 Joint hypermobility OMIM:278250 ATP6V0A2 23545 HP:0003691 Scapular winging OMIM:278250 ATP6V0A2 23545 HP:0001249 Intellectual disability OMIM:278250 ATP6V0A2 23545 HP:0004322 Short stature OMIM:278250 ATP6V0A2 23545 HP:0001869 Deep plantar creases OMIM:278250 ATP6V0A2 23545 HP:0000218 High palate OMIM:278250 ATP6V0A2 23545 HP:0000684 Delayed eruption of teeth OMIM:278250 ATP6V0A2 23545 HP:0100543 Cognitive impairment OMIM:278250 ATP6V0A2 23545 HP:0007495 Prematurely aged appearance OMIM:278250 ATP6V0A2 23545 HP:0009004 Hypoplasia of the musculature OMIM:278250 ATP6V0A2 23545 HP:0100790 Hernia OMIM:278250 ATP6V0A2 23545 HP:0002650 Scoliosis OMIM:278250 ATP6V0A2 23545 HP:0001763 Pes planus OMIM:278250 ATP6V0A2 23545 HP:0003272 Abnormality of the hip bone OMIM:278250 ATP6V0A2 23545 HP:0000648 Optic atrophy OMIM:278250 ATP6V0A2 23545 HP:0000028 Cryptorchidism OMIM:278250 ATP6V0A2 23545 HP:0002808 Kyphosis OMIM:278250 ATP6V0A2 23545 HP:0001250 Seizures OMIM:278250 ATP6V0A2 23545 HP:0000431 Wide nasal bridge OMIM:278250 ATP6V0A2 23545 HP:0000316 Hypertelorism OMIM:278250 ATP6V0A2 23545 HP:0000286 Epicanthus OMIM:278250 ATP6V0A2 23545 HP:0001511 Intrauterine growth retardation OMIM:278250 ATP6V0A2 23545 HP:0007703 Abnormal retinal pigmentation OMIM:278250 ATP6V0A2 23545 HP:0003100 Slender long bone OMIM:278250 ATP6V0A2 23545 HP:0001611 Nasal speech OMIM:278250 ATP6V0A2 23545 HP:0000494 Downslanted palpebral fissures OMIM:278250 ATP6V0A2 23545 HP:0000023 Inguinal hernia OMIM:278250 ATP6V0A2 23545 HP:0002645 Wormian bones OMIM:278250 ATP6V0A2 23545 HP:0000319 Smooth philtrum OMIM:278250 ATP6V0A2 23545 HP:0001596 Alopecia OMIM:278250 ATP6V0A2 23545 HP:0001374 Congenital hip dislocation OMIM:278250 ATP6V0A2 23545 HP:0000272 Malar flattening OMIM:278250 ATP6V0A2 23545 HP:0000343 Long philtrum OMIM:278250 ATP6V0A2 23545 HP:0000938 Osteopenia OMIM:278250 ATP6V0A2 23545 HP:0003202 Skeletal muscle atrophy OMIM:278250 ATP6V0A2 23545 HP:0001252 Muscular hypotonia OMIM:278250 ATP6V0A2 23545 HP:0002812 Coxa vara OMIM:278250 ATP6V0A2 23545 HP:0007414 Neonatal wrinkled skin of hands and feet OMIM:278250 ATP6V0A2 23545 HP:0001808 Fragile nails OMIM:278250 ATP6V0A2 23545 HP:0006482 Abnormality of dental morphology OMIM:278250 ATP6V0A2 23545 HP:0000260 Wide anterior fontanel OMIM:278250 ATP6V0A2 23545 HP:0000545 Myopia OMIM:278250 ATP6V0A2 23545 HP:0200042 Skin ulcer OMIM:278250 ATP6V0A2 23545 HP:0008070 Sparse hair OMIM:278250 ATP6V0A2 23545 HP:0000252 Microcephaly OMIM:278250 ATP6V0A2 23545 HP:0001631 Defect in the atrial septum OMIM:278250 ATP6V0A2 23545 HP:0001799 Short nail OMIM:278250 ATP6V0A2 23545 HP:0000691 Microdontia OMIM:278250 ATP6V0A2 23545 HP:0006191 Deep palmar crease OMIM:278250 ATP6V0A2 23545 HP:0011995 Atrial septal aneurysm OMIM:278250 ATP6V0A2 23545 HP:0000324 Facial asymmetry OMIM:278250 ATP6V0A2 23545 HP:0000007 Autosomal recessive inheritance OMIM:278250 ATP6V0A2 23545 HP:0000767 Pectus excavatum OMIM:278250 ATP6V0A2 23545 HP:0000369 Low-set ears OMIM:278250 ATP6V0A2 23545 HP:0001762 Talipes equinovarus OMIM:608358 MYH7 4625 HP:0002515 Waddling gait OMIM:608358 MYH7 4625 HP:0003687 Centrally nucleated skeletal muscle fibers OMIM:608358 MYH7 4625 HP:0003704 Scapuloperoneal weakness OMIM:608358 MYH7 4625 HP:0001626 Abnormality of the cardiovascular system OMIM:608358 MYH7 4625 HP:0003803 Type 1 muscle fiber predominance OMIM:608358 MYH7 4625 HP:0003458 EMG: myopathic abnormalities OMIM:608358 MYH7 4625 HP:0009055 Generalized limb muscle atrophy OMIM:608358 MYH7 4625 HP:0002792 Reduced vital capacity OMIM:608358 MYH7 4625 HP:0003697 Scapuloperoneal amyotrophy OMIM:608358 MYH7 4625 HP:0003324 Generalized muscle weakness OMIM:608358 MYH7 4625 HP:0003236 Elevated serum creatine phosphokinase OMIM:608358 MYH7 4625 HP:0003674 Onset OMIM:608358 MYH7 4625 HP:0003677 Slow progression OMIM:608358 MYH7 4625 HP:0003707 Calf muscle pseudohypertrophy OMIM:608358 MYH7 4625 HP:0003691 Scapular winging OMIM:608358 MYH7 4625 HP:0000006 Autosomal dominant inheritance OMIM:300511 DIAPH2 1730 HP:0008209 Premature ovarian failure OMIM:609968 INSR 3643 HP:0000006 Autosomal dominant inheritance OMIM:609968 INSR 3643 HP:0000825 Hyperinsulinemic hypoglycemia OMIM:609968 INSR 3643 HP:0002173 Hypoglycemic seizures OMIM:609968 INSR 3643 HP:0001325 Hypoglycemic coma OMIM:609968 INSR 3643 HP:0008283 Fasting hyperinsulinemia OMIM:146520 CDSN 1041 HP:0000006 Autosomal dominant inheritance OMIM:146520 CDSN 1041 HP:0004782 Hypotrichosis of the scalp OMIM:616249 CALM2 805 HP:0001695 Cardiac arrest OMIM:616249 CALM2 805 HP:0001662 Bradycardia OMIM:108720 FLNB 2317 HP:0003196 Short nose OMIM:108720 FLNB 2317 HP:0002007 Frontal bossing OMIM:108720 FLNB 2317 HP:0002990 Fibular aplasia OMIM:108720 FLNB 2317 HP:0000175 Cleft palate OMIM:108720 FLNB 2317 HP:0003417 Coronal cleft vertebrae OMIM:108720 FLNB 2317 HP:0002982 Tibial bowing OMIM:108720 FLNB 2317 HP:0005792 Short humerus OMIM:108720 FLNB 2317 HP:0000470 Short neck OMIM:108720 FLNB 2317 HP:0010743 Short metatarsal OMIM:108720 FLNB 2317 HP:0003811 Neonatal death OMIM:108720 FLNB 2317 HP:0001602 Laryngeal stenosis OMIM:108720 FLNB 2317 HP:0000774 Narrow chest OMIM:108720 FLNB 2317 HP:0001622 Premature birth OMIM:108720 FLNB 2317 HP:0006406 Club-shaped proximal femur OMIM:108720 FLNB 2317 HP:0003745 Sporadic OMIM:108720 FLNB 2317 HP:0000520 Proptosis OMIM:108720 FLNB 2317 HP:0000028 Cryptorchidism OMIM:108720 FLNB 2317 HP:0002084 Encephalocele OMIM:108720 FLNB 2317 HP:0001762 Talipes equinovarus OMIM:108720 FLNB 2317 HP:0006495 Aplasia/Hypoplasia of the ulna OMIM:108720 FLNB 2317 HP:0001561 Polyhydramnios OMIM:108720 FLNB 2317 HP:0004592 Thoracic platyspondyly OMIM:108720 FLNB 2317 HP:0000347 Micrognathia OMIM:108720 FLNB 2317 HP:0005280 Depressed nasal bridge OMIM:108720 FLNB 2317 HP:0000878 11 pairs of ribs OMIM:108720 FLNB 2317 HP:0006408 Distal tapering femur OMIM:108720 FLNB 2317 HP:0001156 Brachydactyly syndrome OMIM:108720 FLNB 2317 HP:0030330 Multinucleated giant chondrocytes in epiphyseal cartilage OMIM:108720 FLNB 2317 HP:0003097 Short femur OMIM:108720 FLNB 2317 HP:0003826 Stillbirth OMIM:108720 FLNB 2317 HP:0000272 Malar flattening OMIM:108720 FLNB 2317 HP:0011800 Midface retrusion OMIM:108720 FLNB 2317 HP:0002949 Fused cervical vertebrae OMIM:108720 FLNB 2317 HP:0008905 Rhizomelia OMIM:108720 FLNB 2317 HP:0001217 Clubbing OMIM:108720 FLNB 2317 HP:0002986 Radial bowing OMIM:108720 FLNB 2317 HP:0003042 Elbow dislocation OMIM:108720 FLNB 2317 HP:0010049 Short metacarpal OMIM:600630 ERCC6 2074 HP:0001480 Freckling OMIM:600630 ERCC6 2074 HP:0000958 Dry skin OMIM:600630 ERCC6 2074 HP:0002664 Neoplasm OMIM:600630 ERCC6 2074 HP:0003224 Increased cellular sensitivity to UV light OMIM:600630 ERCC6 2074 HP:0001425 Heterogeneous OMIM:600630 ERCC6 2074 HP:0000992 Cutaneous photosensitivity OMIM:600630 ERCC6 2074 HP:0001009 Telangiectasia OMIM:600630 ERCC6 2074 HP:0007623 Pigmentation anomalies of sun-exposed skin OMIM:600630 ERCC6 2074 HP:0003593 Infantile onset OMIM:600630 ERCC6 2074 HP:0000007 Autosomal recessive inheritance OMIM:612291 ARL13B 200894 HP:0000657 Oculomotor apraxia OMIM:612291 ARL13B 200894 HP:0000007 Autosomal recessive inheritance OMIM:612291 ARL13B 200894 HP:0001252 Muscular hypotonia OMIM:612291 ARL13B 200894 HP:0002419 Molar tooth sign on MRI OMIM:612291 ARL13B 200894 HP:0001263 Global developmental delay OMIM:606159 FTL 2512 HP:0001276 Hypertonia OMIM:606159 FTL 2512 HP:0002019 Constipation OMIM:606159 FTL 2512 HP:0001251 Ataxia OMIM:606159 FTL 2512 HP:0012049 Laryngeal dystonia OMIM:606159 FTL 2512 HP:0002300 Mutism OMIM:606159 FTL 2512 HP:0008872 Feeding difficulties in infancy OMIM:606159 FTL 2512 HP:0001347 Hyperreflexia OMIM:606159 FTL 2512 HP:0003676 Progressive disorder OMIM:606159 FTL 2512 HP:0003812 Phenotypic variability OMIM:606159 FTL 2512 HP:0002615 Hypotension OMIM:606159 FTL 2512 HP:0002356 Writer's cramp OMIM:606159 FTL 2512 HP:0004372 Reduced consciousness/confusion OMIM:606159 FTL 2512 HP:0000726 Dementia OMIM:606159 FTL 2512 HP:0000734 Disinhibition OMIM:606159 FTL 2512 HP:0002167 Neurological speech impairment OMIM:606159 FTL 2512 HP:0001257 Spasticity OMIM:606159 FTL 2512 HP:0000712 Emotional lability OMIM:606159 FTL 2512 HP:0001300 Parkinsonism OMIM:606159 FTL 2512 HP:0001266 Choreoathetosis OMIM:606159 FTL 2512 HP:0000496 Abnormality of eye movement OMIM:606159 FTL 2512 HP:0001337 Tremor OMIM:606159 FTL 2512 HP:0000643 Blepharospasm OMIM:606159 FTL 2512 HP:0012343 Decreased serum ferritin OMIM:606159 FTL 2512 HP:0007007 Cavitation of the basal ganglia OMIM:606159 FTL 2512 HP:0002311 Incoordination OMIM:606159 FTL 2512 HP:0002376 Developmental regression OMIM:606159 FTL 2512 HP:0002072 Chorea OMIM:606159 FTL 2512 HP:0002180 Neurodegeneration OMIM:606159 FTL 2512 HP:0002067 Bradykinesia OMIM:606159 FTL 2512 HP:0001288 Gait disturbance OMIM:606159 FTL 2512 HP:0002425 Anarthria OMIM:606159 FTL 2512 HP:0001260 Dysarthria OMIM:606159 FTL 2512 HP:0000006 Autosomal dominant inheritance OMIM:606159 FTL 2512 HP:0002015 Dysphagia OMIM:606159 FTL 2512 HP:0003487 Babinski sign OMIM:606159 FTL 2512 HP:0002063 Rigidity OMIM:613477 SPTAN1 6709 HP:0200134 Epileptic encephalopathy OMIM:613477 SPTAN1 6709 HP:0001252 Muscular hypotonia OMIM:613477 SPTAN1 6709 HP:0000253 Progressive microcephaly OMIM:613477 SPTAN1 6709 HP:0003828 Variable expressivity OMIM:613477 SPTAN1 6709 HP:0002521 Hypsarrhythmia OMIM:613477 SPTAN1 6709 HP:0003593 Infantile onset OMIM:613477 SPTAN1 6709 HP:0001347 Hyperreflexia OMIM:613477 SPTAN1 6709 HP:0001272 Cerebellar atrophy OMIM:613477 SPTAN1 6709 HP:0002079 Hypoplasia of the corpus callosum OMIM:613477 SPTAN1 6709 HP:0002510 Spastic tetraplegia OMIM:613477 SPTAN1 6709 HP:0002187 Intellectual disability, profound OMIM:613477 SPTAN1 6709 HP:0010864 Intellectual disability, severe OMIM:613477 SPTAN1 6709 HP:0001250 Seizures OMIM:613477 SPTAN1 6709 HP:0002059 Cerebral atrophy OMIM:613477 SPTAN1 6709 HP:0000006 Autosomal dominant inheritance OMIM:613477 SPTAN1 6709 HP:0003429 CNS hypomyelination OMIM:615989 BBS12 166379 HP:0100543 Cognitive impairment OMIM:615989 BBS12 166379 HP:0010442 Polydactyly OMIM:615989 BBS12 166379 HP:0000510 Retinitis pigmentosa OMIM:615989 BBS12 166379 HP:0000135 Hypogonadism OMIM:615989 BBS12 166379 HP:0001513 Obesity OMIM:615989 BBS12 166379 HP:0000077 Abnormality of the kidney OMIM:606394 NEUROD1 4760 HP:0000006 Autosomal dominant inheritance OMIM:606394 NEUROD1 4760 HP:0004904 Maturity-onset diabetes of the young OMIM:604307 CRYGC 1420 HP:0000639 Nystagmus OMIM:604307 CRYGC 1420 HP:0000613 Photophobia OMIM:604307 CRYGC 1420 HP:0000482 Microcornea OMIM:604307 CRYGC 1420 HP:0000006 Autosomal dominant inheritance OMIM:604307 CRYGC 1420 HP:0008024 Congenital nuclear cataract OMIM:604307 CRYGC 1420 HP:0000646 Amblyopia OMIM:115310 SDHB 6390 HP:0001673 Tachycardia (with pheochromocytoma) OMIM:115310 SDHB 6390 HP:0003001 Glomus jugular tumor OMIM:115310 SDHB 6390 HP:0001676 Palpitations (with pheochromocytoma) OMIM:115310 SDHB 6390 HP:0000361 Pulsatile tinnitus (tympanic paraganglioma) OMIM:115310 SDHB 6390 HP:0030074 Chemodectoma OMIM:115310 SDHB 6390 HP:0003006 Neuroblastoma OMIM:115310 SDHB 6390 HP:0003829 Incomplete penetrance OMIM:115310 SDHB 6390 HP:0000006 Autosomal dominant inheritance OMIM:115310 SDHB 6390 HP:0011281 Abnormality of urine catecholamine concentration OMIM:115310 SDHB 6390 HP:0000740 Anxiety (with pheochromocytoma) OMIM:115310 SDHB 6390 HP:0002640 Hypertension associated with pheochromocytoma OMIM:115310 SDHB 6390 HP:0100723 Gastrointestinal stroma tumor OMIM:115310 SDHB 6390 HP:0003581 Adult onset OMIM:115310 SDHB 6390 HP:0006737 Extraadrenal pheochromocytoma OMIM:115310 SDHB 6390 HP:0002377 Paraganglioma-related cranial nerve palsy OMIM:115310 SDHB 6390 HP:0005584 Renal cell carcinoma OMIM:115310 SDHB 6390 HP:0001011 Diaphoresis (with pheochromocytoma) OMIM:115310 SDHB 6390 HP:0001962 Palpitations OMIM:115310 SDHB 6390 HP:0002331 Headache (with pheochromocytoma) OMIM:115310 SDHB 6390 HP:0006748 Adrenal pheochromocytoma OMIM:613120 SCN3B 55800 HP:0004749 Atrial flutter OMIM:613120 SCN3B 55800 HP:0012251 ST segment elevation OMIM:614616 GUCY2C 2984 HP:0000006 Autosomal dominant inheritance OMIM:614616 GUCY2C 2984 HP:0100502 Vitamin B12 deficiency OMIM:614616 GUCY2C 2984 HP:0002014 Diarrhea OMIM:614616 GUCY2C 2984 HP:0002027 Abdominal pain OMIM:616198 GTPBP3 84705 HP:0001252 Muscular hypotonia OMIM:616198 GTPBP3 84705 HP:0011968 Feeding difficulties OMIM:616198 GTPBP3 84705 HP:0001638 Cardiomyopathy OMIM:616198 GTPBP3 84705 HP:0001250 Seizures OMIM:616198 GTPBP3 84705 HP:0001511 Intrauterine growth retardation OMIM:616198 GTPBP3 84705 HP:0001263 Global developmental delay OMIM:616198 GTPBP3 84705 HP:0011675 Arrhythmia OMIM:616198 GTPBP3 84705 HP:0002151 Increased serum lactate OMIM:616198 GTPBP3 84705 HP:0001635 Congestive heart failure OMIM:616198 GTPBP3 84705 HP:0003128 Lactic acidosis OMIM:616198 GTPBP3 84705 HP:0000505 Visual impairment OMIM:102200 GNAS 2778 HP:0000845 Growth hormone excess OMIM:102200 GNAS 2778 HP:0000822 Hypertension OMIM:102200 GNAS 2778 HP:0000858 Menstrual irregularities OMIM:102200 GNAS 2778 HP:0001712 Left ventricular hypertrophy OMIM:102200 GNAS 2778 HP:0011760 Pituitary growth hormone cell adenoma OMIM:102200 GNAS 2778 HP:0006767 Pituitary prolactin cell adenoma OMIM:102200 GNAS 2778 HP:0001428 Somatic mutation OMIM:102200 GNAS 2778 HP:0100829 Galactorrhea OMIM:102200 GNAS 2778 HP:0000280 Coarse facial features OMIM:102200 GNAS 2778 HP:0000870 Prolactin excess OMIM:102200 GNAS 2778 HP:0002893 Pituitary adenoma OMIM:102200 GNAS 2778 HP:0001638 Cardiomyopathy OMIM:102200 GNAS 2778 HP:0030269 Increased serum insulin-like growth factor 1 {comment="HPO:probinson"} OMIM:102200 GNAS 2778 HP:0000006 Autosomal dominant inheritance OMIM:102200 AIP 9049 HP:0000845 Growth hormone excess OMIM:102200 AIP 9049 HP:0000822 Hypertension OMIM:102200 AIP 9049 HP:0000858 Menstrual irregularities OMIM:102200 AIP 9049 HP:0001712 Left ventricular hypertrophy OMIM:102200 AIP 9049 HP:0011760 Pituitary growth hormone cell adenoma OMIM:102200 AIP 9049 HP:0006767 Pituitary prolactin cell adenoma OMIM:102200 AIP 9049 HP:0001428 Somatic mutation OMIM:102200 AIP 9049 HP:0100829 Galactorrhea OMIM:102200 AIP 9049 HP:0000280 Coarse facial features OMIM:102200 AIP 9049 HP:0000870 Prolactin excess OMIM:102200 AIP 9049 HP:0002893 Pituitary adenoma OMIM:102200 AIP 9049 HP:0001638 Cardiomyopathy OMIM:102200 AIP 9049 HP:0030269 Increased serum insulin-like growth factor 1 {comment="HPO:probinson"} OMIM:102200 AIP 9049 HP:0000006 Autosomal dominant inheritance ORPHANET:1879 LEMD3 23592 HP:0011001 Increased bone mineral density ORPHANET:1879 LEMD3 23592 HP:0003103 Abnormal cortical bone morphology ORPHANET:1879 LEMD3 23592 HP:0000951 Abnormality of the skin ORPHANET:1879 LEMD3 23592 HP:0000822 Hypertension ORPHANET:1879 LEMD3 23592 HP:0001012 Multiple lipomas OMIM:615293 NOTCH3 4854 HP:0000006 Autosomal dominant inheritance OMIM:607200 DUOX2 50506 HP:0000851 Congenital hypothyroidism OMIM:607200 DUOX2 50506 HP:0000007 Autosomal recessive inheritance OMIM:613617 ZNF513 130557 HP:0000662 Night blindness OMIM:613617 ZNF513 130557 HP:0007843 Attenuation of retinal blood vessels OMIM:613617 ZNF513 130557 HP:0000007 Autosomal recessive inheritance OMIM:613617 ZNF513 130557 HP:0000510 Retinitis pigmentosa OMIM:613617 ZNF513 130557 HP:0008323 Abnormal rod and cone electroretinograms OMIM:613617 ZNF513 130557 HP:0007737 Bony spicule pigmentary retinopathy OMIM:613617 ZNF513 130557 HP:0001141 Severe visual impairment OMIM:613617 ZNF513 130557 HP:0000543 Optic disc pallor OMIM:614696 CHMP2B 25978 HP:0002145 Frontotemporal dementia OMIM:614696 CHMP2B 25978 HP:0003202 Skeletal muscle atrophy OMIM:614696 CHMP2B 25978 HP:0007354 Amyotrophic lateral sclerosis OMIM:614696 CHMP2B 25978 HP:0001348 Brisk reflexes OMIM:614696 CHMP2B 25978 HP:0002380 Fasciculations OMIM:614696 CHMP2B 25978 HP:0001284 Areflexia OMIM:614696 CHMP2B 25978 HP:0003581 Adult onset OMIM:614696 CHMP2B 25978 HP:0001260 Dysarthria OMIM:614696 CHMP2B 25978 HP:0003487 Babinski sign OMIM:614696 CHMP2B 25978 HP:0002015 Dysphagia OMIM:614696 CHMP2B 25978 HP:0000006 Autosomal dominant inheritance OMIM:614696 CHMP2B 25978 HP:0003678 Rapidly progressive OMIM:614696 CHMP2B 25978 HP:0002483 Bulbar signs OMIM:614696 CHMP2B 25978 HP:0001265 Hyporeflexia OMIM:614696 CHMP2B 25978 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:607426 COQ2 27235 HP:0001250 Seizures OMIM:607426 COQ2 27235 HP:0001876 Pancytopenia OMIM:607426 COQ2 27235 HP:0001260 Dysarthria OMIM:607426 COQ2 27235 HP:0001903 Anemia OMIM:607426 COQ2 27235 HP:0000639 Nystagmus OMIM:607426 COQ2 27235 HP:0001328 Specific learning disability OMIM:607426 COQ2 27235 HP:0001251 Ataxia OMIM:607426 COQ2 27235 HP:0000100 Nephrotic syndrome OMIM:607426 COQ2 27235 HP:0003128 Lactic acidosis OMIM:607426 COQ2 27235 HP:0001272 Cerebellar atrophy OMIM:607426 COQ2 27235 HP:0001399 Hepatic failure OMIM:607426 COQ2 27235 HP:0000007 Autosomal recessive inheritance OMIM:607426 COQ2 27235 HP:0001298 Encephalopathy OMIM:607426 COQ2 27235 HP:0001270 Motor delay OMIM:607426 COQ2 27235 HP:0003236 Elevated serum creatine phosphokinase OMIM:607426 COQ2 27235 HP:0001639 Hypertrophic cardiomyopathy OMIM:607426 COQ2 27235 HP:0003674 Onset OMIM:607426 COQ2 27235 HP:0003323 Progressive muscle weakness OMIM:607426 COQ2 27235 HP:0003812 Phenotypic variability OMIM:607426 COQ2 27235 HP:0002172 Postural instability OMIM:607426 COQ2 27235 HP:0001249 Intellectual disability OMIM:607426 COQ2 27235 HP:0000096 Glomerulosclerosis OMIM:607426 COQ2 27235 HP:0002168 Scanning speech OMIM:607426 COQ2 27235 HP:0003200 Ragged-red muscle fibers OMIM:607426 COQ2 27235 HP:0000407 Sensorineural hearing impairment OMIM:607426 COQ2 27235 HP:0000510 Retinitis pigmentosa OMIM:607426 COQ2 27235 HP:0003652 Recurrent myoglobinuria OMIM:607426 COQ2 27235 HP:0000815 Hypergonadotropic hypogonadism OMIM:607426 COQ2 27235 HP:0000572 Visual loss OMIM:253220 GUSB 2990 HP:0000768 Pectus carinatum OMIM:253220 GUSB 2990 HP:0007759 Opacification of the corneal stroma OMIM:253220 GUSB 2990 HP:0000238 Hydrocephalus OMIM:253220 GUSB 2990 HP:0007957 Corneal opacity OMIM:253220 GUSB 2990 HP:0001541 Ascites OMIM:253220 GUSB 2990 HP:0100625 Enlarged thorax OMIM:253220 GUSB 2990 HP:0001376 Limitation of joint mobility OMIM:253220 GUSB 2990 HP:0006119 Proximal tapering of metacarpals OMIM:253220 GUSB 2990 HP:0003311 Hypoplasia of the odontoid process OMIM:253220 GUSB 2990 HP:0001392 Abnormality of the liver OMIM:253220 GUSB 2990 HP:0000365 Hearing impairment OMIM:253220 GUSB 2990 HP:0001840 Metatarsus adductus OMIM:253220 GUSB 2990 HP:0100543 Cognitive impairment OMIM:253220 GUSB 2990 HP:0000926 Platyspondyly OMIM:253220 GUSB 2990 HP:0003272 Abnormality of the hip bone OMIM:253220 GUSB 2990 HP:0002205 Recurrent respiratory infections OMIM:253220 GUSB 2990 HP:0001883 Talipes OMIM:253220 GUSB 2990 HP:0002650 Scoliosis OMIM:253220 GUSB 2990 HP:0000272 Malar flattening OMIM:253220 GUSB 2990 HP:0000280 Coarse facial features OMIM:253220 GUSB 2990 HP:0000023 Inguinal hernia OMIM:253220 GUSB 2990 HP:0002103 Abnormality of the pleura OMIM:253220 GUSB 2990 HP:0000256 Macrocephaly OMIM:253220 GUSB 2990 HP:0001744 Splenomegaly OMIM:253220 GUSB 2990 HP:0002180 Neurodegeneration OMIM:253220 GUSB 2990 HP:0008430 Anterior beaking of lumbar vertebrae OMIM:253220 GUSB 2990 HP:0005619 Thoracolumbar kyphosis OMIM:253220 GUSB 2990 HP:0008301 Dermatan sulfate excretion in urine OMIM:253220 GUSB 2990 HP:0000943 Dysostosis multiplex OMIM:253220 GUSB 2990 HP:0000470 Short neck OMIM:253220 GUSB 2990 HP:0001789 Hydrops fetalis OMIM:253220 GUSB 2990 HP:0001537 Umbilical hernia OMIM:253220 GUSB 2990 HP:0100026 Arteriovenous malformation OMIM:253220 GUSB 2990 HP:0000007 Autosomal recessive inheritance OMIM:253220 GUSB 2990 HP:0008807 Acetabular dysplasia OMIM:253220 GUSB 2990 HP:0003541 Urinary glycosaminoglycan excretion OMIM:253220 GUSB 2990 HP:0002240 Hepatomegaly OMIM:253220 GUSB 2990 HP:0002680 J-shaped sella turcica OMIM:253220 GUSB 2990 HP:0004322 Short stature OMIM:253220 GUSB 2990 HP:0003375 Narrow greater sacrosciatic notches OMIM:253220 GUSB 2990 HP:0001249 Intellectual disability OMIM:253220 GUSB 2990 HP:0001007 Hirsutism OMIM:253220 GUSB 2990 HP:0004607 Anterior beaking of lower thoracic vertebrae OMIM:253220 GUSB 2990 HP:0001371 Flexion contracture OMIM:253220 GUSB 2990 HP:0001004 Lymphedema OMIM:253220 GUSB 2990 HP:0001252 Muscular hypotonia OMIM:253220 GUSB 2990 HP:0010655 Epiphyseal stippling OMIM:253220 GUSB 2990 HP:0001654 Abnormality of the heart valves OMIM:253220 GUSB 2990 HP:0008897 Postnatal growth retardation ORPHANET:3237 NOG 9241 HP:0001376 Limitation of joint mobility ORPHANET:3237 NOG 9241 HP:0001597 Abnormality of the nail ORPHANET:3237 NOG 9241 HP:0000954 Single transverse palmar crease ORPHANET:3237 NOG 9241 HP:0000405 Conductive hearing impairment ORPHANET:3237 NOG 9241 HP:0010579 Cone-shaped epiphysis ORPHANET:3237 NOG 9241 HP:0009773 Symphalangism affecting the phalanges of the hand ORPHANET:3237 NOG 9241 HP:0000324 Facial asymmetry ORPHANET:3237 NOG 9241 HP:0001156 Brachydactyly syndrome ORPHANET:3237 NOG 9241 HP:0009602 Abnormality of thumb phalanx ORPHANET:3237 FGF9 2254 HP:0001376 Limitation of joint mobility ORPHANET:3237 FGF9 2254 HP:0001597 Abnormality of the nail ORPHANET:3237 FGF9 2254 HP:0000954 Single transverse palmar crease ORPHANET:3237 FGF9 2254 HP:0000405 Conductive hearing impairment ORPHANET:3237 FGF9 2254 HP:0010579 Cone-shaped epiphysis ORPHANET:3237 FGF9 2254 HP:0009773 Symphalangism affecting the phalanges of the hand ORPHANET:3237 FGF9 2254 HP:0000324 Facial asymmetry ORPHANET:3237 FGF9 2254 HP:0001156 Brachydactyly syndrome ORPHANET:3237 FGF9 2254 HP:0009602 Abnormality of thumb phalanx ORPHANET:3237 GDF5 8200 HP:0001376 Limitation of joint mobility ORPHANET:3237 GDF5 8200 HP:0001597 Abnormality of the nail ORPHANET:3237 GDF5 8200 HP:0000954 Single transverse palmar crease ORPHANET:3237 GDF5 8200 HP:0000405 Conductive hearing impairment ORPHANET:3237 GDF5 8200 HP:0010579 Cone-shaped epiphysis ORPHANET:3237 GDF5 8200 HP:0009773 Symphalangism affecting the phalanges of the hand ORPHANET:3237 GDF5 8200 HP:0000324 Facial asymmetry ORPHANET:3237 GDF5 8200 HP:0001156 Brachydactyly syndrome ORPHANET:3237 GDF5 8200 HP:0009602 Abnormality of thumb phalanx OMIM:612918 PIK3CA 5290 HP:0012032 Lipoma OMIM:612918 PIK3CA 5290 HP:0002564 Malformation of the heart and great vessels OMIM:612918 PIK3CA 5290 HP:0100559 Lower limb asymmetry OMIM:612918 PIK3CA 5290 HP:0004437 Cranial hyperostosis OMIM:612918 PIK3CA 5290 HP:0001852 Sandal gap OMIM:612918 PIK3CA 5290 HP:0001528 Hemihypertrophy OMIM:612918 PIK3CA 5290 HP:0000324 Facial asymmetry OMIM:612918 PIK3CA 5290 HP:0002650 Scoliosis OMIM:612918 PIK3CA 5290 HP:0010301 Spinal dysraphism OMIM:612918 PIK3CA 5290 HP:0008678 Renal hypoplasia/aplasia OMIM:612918 PIK3CA 5290 HP:0004099 Macrodactyly OMIM:612918 PIK3CA 5290 HP:0001548 Overgrowth OMIM:612918 PIK3CA 5290 HP:0002144 Tethered cord OMIM:612918 PIK3CA 5290 HP:0001744 Splenomegaly OMIM:125250 OPA1 4976 HP:0000505 Visual impairment OMIM:125250 OPA1 4976 HP:0000666 Horizontal nystagmus OMIM:125250 OPA1 4976 HP:0000648 Optic atrophy OMIM:125250 OPA1 4976 HP:0000486 Strabismus OMIM:125250 OPA1 4976 HP:0000576 Centrocecal scotoma OMIM:125250 OPA1 4976 HP:0006958 Abnormal auditory evoked potentials OMIM:125250 OPA1 4976 HP:0003198 Myopathy OMIM:125250 OPA1 4976 HP:0000408 Progressive sensorineural hearing impairment OMIM:125250 OPA1 4976 HP:0000642 Red-green dyschromatopsia OMIM:125250 OPA1 4976 HP:0001251 Ataxia OMIM:125250 OPA1 4976 HP:0000603 Central scotoma OMIM:125250 OPA1 4976 HP:0003812 Phenotypic variability OMIM:125250 OPA1 4976 HP:0000602 Ophthalmoplegia OMIM:125250 OPA1 4976 HP:0000508 Ptosis OMIM:125250 OPA1 4976 HP:0000650 Reduced amplitude of pattern visual evoked potentials OMIM:125250 OPA1 4976 HP:0000006 Autosomal dominant inheritance OMIM:125250 OPA1 4976 HP:0003557 Increased variability in muscle fiber diameter OMIM:125250 OPA1 4976 HP:0000552 Tritanomaly OMIM:125250 OPA1 4976 HP:0009830 Peripheral neuropathy OMIM:608768 ATXN8OS 6315 HP:0000641 Dysmetric saccades OMIM:608768 ATXN8OS 6315 HP:0002073 Progressive cerebellar ataxia OMIM:608768 ATXN8OS 6315 HP:0000514 Slow saccadic eye movements OMIM:608768 ATXN8OS 6315 HP:0002062 Morphological abnormality of the pyramidal tract OMIM:608768 ATXN8OS 6315 HP:0007772 Impaired smooth pursuit OMIM:608768 ATXN8OS 6315 HP:0001337 Tremor OMIM:608768 ATXN8OS 6315 HP:0001257 Spasticity OMIM:608768 ATXN8OS 6315 HP:0002311 Incoordination OMIM:608768 ATXN8OS 6315 HP:0001272 Cerebellar atrophy OMIM:608768 ATXN8OS 6315 HP:0009830 Peripheral neuropathy OMIM:608768 ATXN8OS 6315 HP:0000006 Autosomal dominant inheritance OMIM:608768 ATXN8OS 6315 HP:0000639 Nystagmus OMIM:608768 ATXN8OS 6315 HP:0000763 Sensory neuropathy OMIM:608768 ATXN8OS 6315 HP:0001260 Dysarthria OMIM:608768 ATXN8OS 6315 HP:0002015 Dysphagia OMIM:608768 ATXN8OS 6315 HP:0007256 Abnormal pyramidal signs OMIM:608768 ATXN8 724066 HP:0000641 Dysmetric saccades OMIM:608768 ATXN8 724066 HP:0002073 Progressive cerebellar ataxia OMIM:608768 ATXN8 724066 HP:0000514 Slow saccadic eye movements OMIM:608768 ATXN8 724066 HP:0002062 Morphological abnormality of the pyramidal tract OMIM:608768 ATXN8 724066 HP:0007772 Impaired smooth pursuit OMIM:608768 ATXN8 724066 HP:0001337 Tremor OMIM:608768 ATXN8 724066 HP:0001257 Spasticity OMIM:608768 ATXN8 724066 HP:0002311 Incoordination OMIM:608768 ATXN8 724066 HP:0001272 Cerebellar atrophy OMIM:608768 ATXN8 724066 HP:0009830 Peripheral neuropathy OMIM:608768 ATXN8 724066 HP:0000006 Autosomal dominant inheritance OMIM:608768 ATXN8 724066 HP:0000639 Nystagmus OMIM:608768 ATXN8 724066 HP:0000763 Sensory neuropathy OMIM:608768 ATXN8 724066 HP:0001260 Dysarthria OMIM:608768 ATXN8 724066 HP:0002015 Dysphagia OMIM:608768 ATXN8 724066 HP:0007256 Abnormal pyramidal signs OMIM:312060 CFP 5199 HP:0001419 X-linked recessive inheritance OMIM:312060 CFP 5199 HP:0005423 Dysfunctional alternative complement pathway OMIM:312060 CFP 5199 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:231178 MYO7A 4647 HP:0011073 Abnormality of dental color ORPHANET:231178 MYO7A 4647 HP:0000639 Nystagmus ORPHANET:231178 MYO7A 4647 HP:0000682 Abnormality of dental enamel ORPHANET:231178 MYO7A 4647 HP:0000518 Cataract ORPHANET:231178 MYO7A 4647 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:231178 MYO7A 4647 HP:0001123 Visual field defect ORPHANET:231178 MYO7A 4647 HP:0000738 Hallucinations ORPHANET:231178 MYO7A 4647 HP:0002311 Incoordination ORPHANET:231178 MYO7A 4647 HP:0007703 Abnormal retinal pigmentation ORPHANET:231178 MYO7A 4647 HP:0000505 Visual impairment ORPHANET:231178 MYO7A 4647 HP:0000691 Microdontia ORPHANET:231178 MYO7A 4647 HP:0000662 Night blindness ORPHANET:231178 MYO7A 4647 HP:0000407 Sensorineural hearing impairment ORPHANET:231178 MYO7A 4647 HP:0000670 Carious teeth ORPHANET:231178 MYO7A 4647 HP:0000512 Abnormal electroretinogram ORPHANET:231178 MYO7A 4647 HP:0002120 Cerebral cortical atrophy ORPHANET:231178 MYO7A 4647 HP:0000545 Myopia ORPHANET:231178 USH2A 7399 HP:0011073 Abnormality of dental color ORPHANET:231178 USH2A 7399 HP:0000639 Nystagmus ORPHANET:231178 USH2A 7399 HP:0000682 Abnormality of dental enamel ORPHANET:231178 USH2A 7399 HP:0000518 Cataract ORPHANET:231178 USH2A 7399 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:231178 USH2A 7399 HP:0001123 Visual field defect ORPHANET:231178 USH2A 7399 HP:0000738 Hallucinations ORPHANET:231178 USH2A 7399 HP:0002311 Incoordination ORPHANET:231178 USH2A 7399 HP:0007703 Abnormal retinal pigmentation ORPHANET:231178 USH2A 7399 HP:0000505 Visual impairment ORPHANET:231178 USH2A 7399 HP:0000691 Microdontia ORPHANET:231178 USH2A 7399 HP:0000662 Night blindness ORPHANET:231178 USH2A 7399 HP:0000407 Sensorineural hearing impairment ORPHANET:231178 USH2A 7399 HP:0000670 Carious teeth ORPHANET:231178 USH2A 7399 HP:0000512 Abnormal electroretinogram ORPHANET:231178 USH2A 7399 HP:0002120 Cerebral cortical atrophy ORPHANET:231178 USH2A 7399 HP:0000545 Myopia ORPHANET:231178 PDZD7 79955 HP:0011073 Abnormality of dental color ORPHANET:231178 PDZD7 79955 HP:0000639 Nystagmus ORPHANET:231178 PDZD7 79955 HP:0000682 Abnormality of dental enamel ORPHANET:231178 PDZD7 79955 HP:0000518 Cataract ORPHANET:231178 PDZD7 79955 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:231178 PDZD7 79955 HP:0001123 Visual field defect ORPHANET:231178 PDZD7 79955 HP:0000738 Hallucinations ORPHANET:231178 PDZD7 79955 HP:0002311 Incoordination ORPHANET:231178 PDZD7 79955 HP:0007703 Abnormal retinal pigmentation ORPHANET:231178 PDZD7 79955 HP:0000505 Visual impairment ORPHANET:231178 PDZD7 79955 HP:0000691 Microdontia ORPHANET:231178 PDZD7 79955 HP:0000662 Night blindness ORPHANET:231178 PDZD7 79955 HP:0000407 Sensorineural hearing impairment ORPHANET:231178 PDZD7 79955 HP:0000670 Carious teeth ORPHANET:231178 PDZD7 79955 HP:0000512 Abnormal electroretinogram ORPHANET:231178 PDZD7 79955 HP:0002120 Cerebral cortical atrophy ORPHANET:231178 PDZD7 79955 HP:0000545 Myopia ORPHANET:231178 DFNB31 25861 HP:0011073 Abnormality of dental color ORPHANET:231178 DFNB31 25861 HP:0000639 Nystagmus ORPHANET:231178 DFNB31 25861 HP:0000682 Abnormality of dental enamel ORPHANET:231178 DFNB31 25861 HP:0000518 Cataract ORPHANET:231178 DFNB31 25861 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:231178 DFNB31 25861 HP:0001123 Visual field defect ORPHANET:231178 DFNB31 25861 HP:0000738 Hallucinations ORPHANET:231178 DFNB31 25861 HP:0002311 Incoordination ORPHANET:231178 DFNB31 25861 HP:0007703 Abnormal retinal pigmentation ORPHANET:231178 DFNB31 25861 HP:0000505 Visual impairment ORPHANET:231178 DFNB31 25861 HP:0000691 Microdontia ORPHANET:231178 DFNB31 25861 HP:0000662 Night blindness ORPHANET:231178 DFNB31 25861 HP:0000407 Sensorineural hearing impairment ORPHANET:231178 DFNB31 25861 HP:0000670 Carious teeth ORPHANET:231178 DFNB31 25861 HP:0000512 Abnormal electroretinogram ORPHANET:231178 DFNB31 25861 HP:0002120 Cerebral cortical atrophy ORPHANET:231178 DFNB31 25861 HP:0000545 Myopia ORPHANET:231178 ADGRV1 84059 HP:0011073 Abnormality of dental color ORPHANET:231178 ADGRV1 84059 HP:0000639 Nystagmus ORPHANET:231178 ADGRV1 84059 HP:0000682 Abnormality of dental enamel ORPHANET:231178 ADGRV1 84059 HP:0000518 Cataract ORPHANET:231178 ADGRV1 84059 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:231178 ADGRV1 84059 HP:0001123 Visual field defect ORPHANET:231178 ADGRV1 84059 HP:0000738 Hallucinations ORPHANET:231178 ADGRV1 84059 HP:0002311 Incoordination ORPHANET:231178 ADGRV1 84059 HP:0007703 Abnormal retinal pigmentation ORPHANET:231178 ADGRV1 84059 HP:0000505 Visual impairment ORPHANET:231178 ADGRV1 84059 HP:0000691 Microdontia ORPHANET:231178 ADGRV1 84059 HP:0000662 Night blindness ORPHANET:231178 ADGRV1 84059 HP:0000407 Sensorineural hearing impairment ORPHANET:231178 ADGRV1 84059 HP:0000670 Carious teeth ORPHANET:231178 ADGRV1 84059 HP:0000512 Abnormal electroretinogram ORPHANET:231178 ADGRV1 84059 HP:0002120 Cerebral cortical atrophy ORPHANET:231178 ADGRV1 84059 HP:0000545 Myopia OMIM:606785 UGT1A1 54658 HP:0008282 Unconjugated hyperbilirubinemia OMIM:606785 UGT1A1 54658 HP:0000007 Autosomal recessive inheritance OMIM:606785 UGT1A1 54658 HP:0001392 Abnormality of the liver OMIM:606785 UGT1A1 54658 HP:0000952 Jaundice OMIM:611819 SCN4B 6330 HP:0001678 Atrioventricular block OMIM:611819 SCN4B 6330 HP:0001657 Prolonged QT interval OMIM:611819 SCN4B 6330 HP:0001645 Sudden cardiac death OMIM:611819 SCN4B 6330 HP:0005110 Atrial fibrillation OMIM:611819 SCN4B 6330 HP:0012266 T-wave alternans OMIM:611819 SCN4B 6330 HP:0000006 Autosomal dominant inheritance OMIM:117360 ITPR1 3708 HP:0100543 Cognitive impairment OMIM:117360 ITPR1 3708 HP:0006855 Cerebellar vermis atrophy OMIM:117360 ITPR1 3708 HP:0002075 Dysdiadochokinesis OMIM:117360 ITPR1 3708 HP:0003812 Phenotypic variability OMIM:117360 ITPR1 3708 HP:0002136 Broad-based gait OMIM:117360 ITPR1 3708 HP:0001260 Dysarthria OMIM:117360 ITPR1 3708 HP:0002070 Limb ataxia OMIM:117360 ITPR1 3708 HP:0000639 Nystagmus OMIM:117360 ITPR1 3708 HP:0002335 Agenesis of cerebellar vermis OMIM:117360 ITPR1 3708 HP:0003577 Congenital onset OMIM:117360 ITPR1 3708 HP:0001270 Motor delay OMIM:117360 ITPR1 3708 HP:0001310 Dysmetria OMIM:117360 ITPR1 3708 HP:0000006 Autosomal dominant inheritance OMIM:117360 ITPR1 3708 HP:0002470 Nonprogressive cerebellar ataxia OMIM:117360 ITPR1 3708 HP:0001251 Ataxia OMIM:117360 ITPR1 3708 HP:0002080 Intention tremor OMIM:215470 PNPLA6 10908 HP:0002168 Scanning speech OMIM:215470 PNPLA6 10908 HP:0001251 Ataxia OMIM:215470 PNPLA6 10908 HP:0007712 Choroidal dystrophy OMIM:215470 PNPLA6 10908 HP:0007263 Spinocerebellar atrophy OMIM:215470 PNPLA6 10908 HP:0002127 Abnormal upper motor neuron morphology OMIM:215470 PNPLA6 10908 HP:0000078 Abnormality of the genital system OMIM:215470 PNPLA6 10908 HP:0003676 Progressive disorder OMIM:215470 PNPLA6 10908 HP:0000044 Hypogonadotrophic hypogonadism OMIM:215470 PNPLA6 10908 HP:0002311 Incoordination OMIM:215470 PNPLA6 10908 HP:0001135 Chorioretinal dystrophy OMIM:215470 PNPLA6 10908 HP:0003621 Juvenile onset OMIM:215470 PNPLA6 10908 HP:0001257 Spasticity OMIM:215470 PNPLA6 10908 HP:0007703 Abnormal retinal pigmentation OMIM:215470 PNPLA6 10908 HP:0003693 Distal amyotrophy OMIM:215470 PNPLA6 10908 HP:0001939 Abnormality of metabolism/homeostasis OMIM:215470 PNPLA6 10908 HP:0001265 Hyporeflexia OMIM:215470 PNPLA6 10908 HP:0000007 Autosomal recessive inheritance OMIM:215470 PNPLA6 10908 HP:0001284 Areflexia OMIM:215470 PNPLA6 10908 HP:0000556 Retinal dystrophy OMIM:215470 PNPLA6 10908 HP:0000529 Progressive visual loss OMIM:215470 PNPLA6 10908 HP:0002080 Intention tremor OMIM:215470 PNPLA6 10908 HP:0000613 Photophobia OMIM:215470 PNPLA6 10908 HP:0001272 Cerebellar atrophy OMIM:210370 CYP4V2 285440 HP:0007675 Progressive night blindness OMIM:210370 CYP4V2 285440 HP:0001133 Constricted visual fields OMIM:210370 CYP4V2 285440 HP:0007880 Marginal corneal dystrophy OMIM:210370 CYP4V2 285440 HP:0000546 Retinal degeneration OMIM:210370 CYP4V2 285440 HP:0000007 Autosomal recessive inheritance OMIM:210370 CYP4V2 285440 HP:0001150 Choroidal sclerosis OMIM:210370 CYP4V2 285440 HP:0001871 Abnormality of blood and blood-forming tissues OMIM:274800 IYD 389434 HP:0000853 Goiter OMIM:274800 IYD 389434 HP:0000007 Autosomal recessive inheritance OMIM:274800 IYD 389434 HP:0001510 Growth delay OMIM:274800 IYD 389434 HP:0000821 Hypothyroidism OMIM:274800 IYD 389434 HP:0001249 Intellectual disability OMIM:226650 LAMB3 3914 HP:0100577 Urinary bladder inflammation OMIM:226650 LAMB3 3914 HP:0000164 Abnormality of the teeth OMIM:226650 LAMB3 3914 HP:0008065 Aplasia/Hypoplasia of the skin OMIM:226650 LAMB3 3914 HP:0200097 Oral mucosal blisters OMIM:226650 LAMB3 3914 HP:0008066 Abnormal blistering of the skin OMIM:226650 LAMB3 3914 HP:0010624 Aplastic/hypoplastic toenail OMIM:226650 LAMB3 3914 HP:0100490 Camptodactyly of finger OMIM:226650 LAMB3 3914 HP:0001798 Anonychia OMIM:226650 LAMB3 3914 HP:0007556 Plantar hyperkeratosis OMIM:226650 LAMB3 3914 HP:0001425 Heterogeneous OMIM:226650 LAMB3 3914 HP:0002164 Nail dysplasia OMIM:226650 LAMB3 3914 HP:0001231 Abnormality of the fingernails OMIM:226650 LAMB3 3914 HP:0200020 Corneal erosion OMIM:226650 LAMB3 3914 HP:0012211 Abnormal renal physiology OMIM:226650 LAMB3 3914 HP:0200042 Skin ulcer OMIM:226650 LAMB3 3914 HP:0006089 Palmar hyperhidrosis OMIM:226650 LAMB3 3914 HP:0000668 Hypodontia OMIM:226650 LAMB3 3914 HP:0000670 Carious teeth OMIM:226650 LAMB3 3914 HP:0000795 Abnormality of the urethra OMIM:226650 LAMB3 3914 HP:0000007 Autosomal recessive inheritance OMIM:226650 LAMB3 3914 HP:0002021 Pyloric stenosis OMIM:226650 LAMB3 3914 HP:0001808 Fragile nails OMIM:226650 LAMB3 3914 HP:0100640 Laryngeal cyst OMIM:226650 LAMB3 3914 HP:0001000 Abnormality of skin pigmentation OMIM:226650 LAMB3 3914 HP:0001760 Abnormality of the foot OMIM:226650 ITGB4 3691 HP:0100577 Urinary bladder inflammation OMIM:226650 ITGB4 3691 HP:0000164 Abnormality of the teeth OMIM:226650 ITGB4 3691 HP:0008065 Aplasia/Hypoplasia of the skin OMIM:226650 ITGB4 3691 HP:0200097 Oral mucosal blisters OMIM:226650 ITGB4 3691 HP:0008066 Abnormal blistering of the skin OMIM:226650 ITGB4 3691 HP:0010624 Aplastic/hypoplastic toenail OMIM:226650 ITGB4 3691 HP:0100490 Camptodactyly of finger OMIM:226650 ITGB4 3691 HP:0001798 Anonychia OMIM:226650 ITGB4 3691 HP:0007556 Plantar hyperkeratosis OMIM:226650 ITGB4 3691 HP:0001425 Heterogeneous OMIM:226650 ITGB4 3691 HP:0002164 Nail dysplasia OMIM:226650 ITGB4 3691 HP:0001231 Abnormality of the fingernails OMIM:226650 ITGB4 3691 HP:0200020 Corneal erosion OMIM:226650 ITGB4 3691 HP:0012211 Abnormal renal physiology OMIM:226650 ITGB4 3691 HP:0200042 Skin ulcer OMIM:226650 ITGB4 3691 HP:0006089 Palmar hyperhidrosis OMIM:226650 ITGB4 3691 HP:0000668 Hypodontia OMIM:226650 ITGB4 3691 HP:0000670 Carious teeth OMIM:226650 ITGB4 3691 HP:0000795 Abnormality of the urethra OMIM:226650 ITGB4 3691 HP:0000007 Autosomal recessive inheritance OMIM:226650 ITGB4 3691 HP:0002021 Pyloric stenosis OMIM:226650 ITGB4 3691 HP:0001808 Fragile nails OMIM:226650 ITGB4 3691 HP:0100640 Laryngeal cyst OMIM:226650 ITGB4 3691 HP:0001000 Abnormality of skin pigmentation OMIM:226650 ITGB4 3691 HP:0001760 Abnormality of the foot OMIM:226650 LAMC2 3918 HP:0100577 Urinary bladder inflammation OMIM:226650 LAMC2 3918 HP:0000164 Abnormality of the teeth OMIM:226650 LAMC2 3918 HP:0008065 Aplasia/Hypoplasia of the skin OMIM:226650 LAMC2 3918 HP:0200097 Oral mucosal blisters OMIM:226650 LAMC2 3918 HP:0008066 Abnormal blistering of the skin OMIM:226650 LAMC2 3918 HP:0010624 Aplastic/hypoplastic toenail OMIM:226650 LAMC2 3918 HP:0100490 Camptodactyly of finger OMIM:226650 LAMC2 3918 HP:0001798 Anonychia OMIM:226650 LAMC2 3918 HP:0007556 Plantar hyperkeratosis OMIM:226650 LAMC2 3918 HP:0001425 Heterogeneous OMIM:226650 LAMC2 3918 HP:0002164 Nail dysplasia OMIM:226650 LAMC2 3918 HP:0001231 Abnormality of the fingernails OMIM:226650 LAMC2 3918 HP:0200020 Corneal erosion OMIM:226650 LAMC2 3918 HP:0012211 Abnormal renal physiology OMIM:226650 LAMC2 3918 HP:0200042 Skin ulcer OMIM:226650 LAMC2 3918 HP:0006089 Palmar hyperhidrosis OMIM:226650 LAMC2 3918 HP:0000668 Hypodontia OMIM:226650 LAMC2 3918 HP:0000670 Carious teeth OMIM:226650 LAMC2 3918 HP:0000795 Abnormality of the urethra OMIM:226650 LAMC2 3918 HP:0000007 Autosomal recessive inheritance OMIM:226650 LAMC2 3918 HP:0002021 Pyloric stenosis OMIM:226650 LAMC2 3918 HP:0001808 Fragile nails OMIM:226650 LAMC2 3918 HP:0100640 Laryngeal cyst OMIM:226650 LAMC2 3918 HP:0001000 Abnormality of skin pigmentation OMIM:226650 LAMC2 3918 HP:0001760 Abnormality of the foot OMIM:226650 COL17A1 1308 HP:0100577 Urinary bladder inflammation OMIM:226650 COL17A1 1308 HP:0000164 Abnormality of the teeth OMIM:226650 COL17A1 1308 HP:0008065 Aplasia/Hypoplasia of the skin OMIM:226650 COL17A1 1308 HP:0200097 Oral mucosal blisters OMIM:226650 COL17A1 1308 HP:0008066 Abnormal blistering of the skin OMIM:226650 COL17A1 1308 HP:0010624 Aplastic/hypoplastic toenail OMIM:226650 COL17A1 1308 HP:0100490 Camptodactyly of finger OMIM:226650 COL17A1 1308 HP:0001798 Anonychia OMIM:226650 COL17A1 1308 HP:0007556 Plantar hyperkeratosis OMIM:226650 COL17A1 1308 HP:0001425 Heterogeneous OMIM:226650 COL17A1 1308 HP:0002164 Nail dysplasia OMIM:226650 COL17A1 1308 HP:0001231 Abnormality of the fingernails OMIM:226650 COL17A1 1308 HP:0200020 Corneal erosion OMIM:226650 COL17A1 1308 HP:0012211 Abnormal renal physiology OMIM:226650 COL17A1 1308 HP:0200042 Skin ulcer OMIM:226650 COL17A1 1308 HP:0006089 Palmar hyperhidrosis OMIM:226650 COL17A1 1308 HP:0000668 Hypodontia OMIM:226650 COL17A1 1308 HP:0000670 Carious teeth OMIM:226650 COL17A1 1308 HP:0000795 Abnormality of the urethra OMIM:226650 COL17A1 1308 HP:0000007 Autosomal recessive inheritance OMIM:226650 COL17A1 1308 HP:0002021 Pyloric stenosis OMIM:226650 COL17A1 1308 HP:0001808 Fragile nails OMIM:226650 COL17A1 1308 HP:0100640 Laryngeal cyst OMIM:226650 COL17A1 1308 HP:0001000 Abnormality of skin pigmentation OMIM:226650 COL17A1 1308 HP:0001760 Abnormality of the foot OMIM:226650 LAMA3 3909 HP:0100577 Urinary bladder inflammation OMIM:226650 LAMA3 3909 HP:0000164 Abnormality of the teeth OMIM:226650 LAMA3 3909 HP:0008065 Aplasia/Hypoplasia of the skin OMIM:226650 LAMA3 3909 HP:0200097 Oral mucosal blisters OMIM:226650 LAMA3 3909 HP:0008066 Abnormal blistering of the skin OMIM:226650 LAMA3 3909 HP:0010624 Aplastic/hypoplastic toenail OMIM:226650 LAMA3 3909 HP:0100490 Camptodactyly of finger OMIM:226650 LAMA3 3909 HP:0001798 Anonychia OMIM:226650 LAMA3 3909 HP:0007556 Plantar hyperkeratosis OMIM:226650 LAMA3 3909 HP:0001425 Heterogeneous OMIM:226650 LAMA3 3909 HP:0002164 Nail dysplasia OMIM:226650 LAMA3 3909 HP:0001231 Abnormality of the fingernails OMIM:226650 LAMA3 3909 HP:0200020 Corneal erosion OMIM:226650 LAMA3 3909 HP:0012211 Abnormal renal physiology OMIM:226650 LAMA3 3909 HP:0200042 Skin ulcer OMIM:226650 LAMA3 3909 HP:0006089 Palmar hyperhidrosis OMIM:226650 LAMA3 3909 HP:0000668 Hypodontia OMIM:226650 LAMA3 3909 HP:0000670 Carious teeth OMIM:226650 LAMA3 3909 HP:0000795 Abnormality of the urethra OMIM:226650 LAMA3 3909 HP:0000007 Autosomal recessive inheritance OMIM:226650 LAMA3 3909 HP:0002021 Pyloric stenosis OMIM:226650 LAMA3 3909 HP:0001808 Fragile nails OMIM:226650 LAMA3 3909 HP:0100640 Laryngeal cyst OMIM:226650 LAMA3 3909 HP:0001000 Abnormality of skin pigmentation OMIM:226650 LAMA3 3909 HP:0001760 Abnormality of the foot OMIM:607684 NEFL 4747 HP:0001265 Hyporeflexia OMIM:607684 NEFL 4747 HP:0003693 Distal amyotrophy OMIM:607684 NEFL 4747 HP:0006006 Hypotrophy of the small hand muscles OMIM:607684 NEFL 4747 HP:0001765 Hammertoe OMIM:607684 NEFL 4747 HP:0001761 Pes cavus OMIM:607684 NEFL 4747 HP:0009027 Foot dorsiflexor weakness OMIM:607684 NEFL 4747 HP:0002460 Distal muscle weakness OMIM:607684 NEFL 4747 HP:0001178 Ulnar claw OMIM:607684 NEFL 4747 HP:0002936 Distal sensory impairment OMIM:607684 NEFL 4747 HP:0001284 Areflexia OMIM:607684 NEFL 4747 HP:0003376 Steppage gait OMIM:607684 NEFL 4747 HP:0003431 Decreased motor nerve conduction velocity OMIM:607684 NEFL 4747 HP:0000006 Autosomal dominant inheritance OMIM:600971 TMIE 259236 HP:0000007 Autosomal recessive inheritance OMIM:600971 TMIE 259236 HP:0000365 Hearing impairment OMIM:612572 IDH3B 3420 HP:0000543 Optic disc pallor OMIM:612572 IDH3B 3420 HP:0000007 Autosomal recessive inheritance OMIM:612572 IDH3B 3420 HP:0001133 Constricted visual fields OMIM:612572 IDH3B 3420 HP:0007843 Attenuation of retinal blood vessels OMIM:612572 IDH3B 3420 HP:0000510 Retinitis pigmentosa OMIM:612572 IDH3B 3420 HP:0000654 Decreased electroretinogram (ERG) amplitude OMIM:612572 IDH3B 3420 HP:0000505 Visual impairment OMIM:613809 USH2A 7399 HP:0007843 Attenuation of retinal blood vessels OMIM:613809 USH2A 7399 HP:0007737 Bony spicule pigmentary retinopathy OMIM:613809 USH2A 7399 HP:0000512 Abnormal electroretinogram OMIM:613809 USH2A 7399 HP:0000505 Visual impairment OMIM:613809 USH2A 7399 HP:0001123 Visual field defect OMIM:613809 USH2A 7399 HP:0000007 Autosomal recessive inheritance OMIM:613809 USH2A 7399 HP:0000510 Retinitis pigmentosa OMIM:613803 ORC6 23594 HP:0000327 Hypoplasia of the maxilla OMIM:613803 ORC6 23594 HP:0003561 Birth length less than 3rd percentile OMIM:613803 ORC6 23594 HP:0002094 Dyspnea OMIM:613803 ORC6 23594 HP:0008665 Clitoral hypertrophy OMIM:613803 ORC6 23594 HP:0000325 Triangular face OMIM:613803 ORC6 23594 HP:0000007 Autosomal recessive inheritance OMIM:613803 ORC6 23594 HP:0000160 Narrow mouth OMIM:613803 ORC6 23594 HP:0002970 Genu varum OMIM:613803 ORC6 23594 HP:0000774 Narrow chest OMIM:613803 ORC6 23594 HP:0006532 Recurrent pneumonia OMIM:613803 ORC6 23594 HP:0002750 Delayed skeletal maturation OMIM:613803 ORC6 23594 HP:0001508 Failure to thrive OMIM:613803 ORC6 23594 HP:0003187 Breast hypoplasia OMIM:613803 ORC6 23594 HP:0000773 Short ribs OMIM:613803 ORC6 23594 HP:0000308 Microretrognathia OMIM:613803 ORC6 23594 HP:0000028 Cryptorchidism OMIM:613803 ORC6 23594 HP:0011968 Feeding difficulties OMIM:613803 ORC6 23594 HP:0000179 Thick lower lip vermilion OMIM:613803 ORC6 23594 HP:0006628 Absent sternal ossification OMIM:613803 ORC6 23594 HP:0002812 Coxa vara OMIM:613803 ORC6 23594 HP:0001511 Intrauterine growth retardation OMIM:613803 ORC6 23594 HP:0000252 Microcephaly OMIM:613803 ORC6 23594 HP:0003100 Slender long bone OMIM:613803 ORC6 23594 HP:0006498 Aplasia/Hypoplasia of the patella OMIM:613803 ORC6 23594 HP:0000046 Scrotal hypoplasia OMIM:613803 ORC6 23594 HP:0010306 Short thorax OMIM:613803 ORC6 23594 HP:0008551 Microtia OMIM:615273 NGLY1 55768 HP:0001263 Global developmental delay OMIM:615273 NGLY1 55768 HP:0200055 Small hand OMIM:615273 NGLY1 55768 HP:0004305 Involuntary movements OMIM:615273 NGLY1 55768 HP:0000007 Autosomal recessive inheritance OMIM:615273 NGLY1 55768 HP:0012448 Delayed myelination OMIM:615273 NGLY1 55768 HP:0009830 Peripheral neuropathy OMIM:615273 NGLY1 55768 HP:0002910 Elevated hepatic transaminases OMIM:615273 NGLY1 55768 HP:0001773 Short foot OMIM:615273 NGLY1 55768 HP:0001252 Muscular hypotonia OMIM:300100 ABCD1 215 HP:0003676 Progressive disorder OMIM:300100 ABCD1 215 HP:0002385 Paraparesis OMIM:300100 ABCD1 215 HP:0001250 Seizures OMIM:300100 ABCD1 215 HP:0002070 Limb ataxia OMIM:300100 ABCD1 215 HP:0001350 Slurred speech OMIM:300100 ABCD1 215 HP:0000135 Hypogonadism OMIM:300100 ABCD1 215 HP:0000020 Urinary incontinence OMIM:300100 ABCD1 215 HP:0007018 Attention deficit hyperactivity disorder OMIM:300100 ABCD1 215 HP:0002078 Truncal ataxia OMIM:300100 ABCD1 215 HP:0002839 Urinary bladder sphincter dysfunction OMIM:300100 ABCD1 215 HP:0001271 Polyneuropathy OMIM:300100 ABCD1 215 HP:0002180 Neurodegeneration OMIM:300100 ABCD1 215 HP:0008207 Primary adrenal insufficiency OMIM:300100 ABCD1 215 HP:0002371 Loss of speech OMIM:300100 ABCD1 215 HP:0000924 Abnormality of the skeletal system OMIM:300100 ABCD1 215 HP:0000709 Psychosis OMIM:300100 ABCD1 215 HP:0000802 Impotence OMIM:300100 ABCD1 215 HP:0002607 Bowel incontinence OMIM:300100 ABCD1 215 HP:0000726 Dementia OMIM:300100 ABCD1 215 HP:0002500 Abnormality of the cerebral white matter OMIM:300100 ABCD1 215 HP:0000618 Blindness OMIM:300100 ABCD1 215 HP:0003455 Elevated long chain fatty acids OMIM:300100 ABCD1 215 HP:0002311 Incoordination OMIM:300100 ABCD1 215 HP:0000365 Hearing impairment OMIM:300100 ABCD1 215 HP:0001283 Bulbar palsy OMIM:300100 ABCD1 215 HP:0001258 Spastic paraplegia OMIM:300100 ABCD1 215 HP:0001419 X-linked recessive inheritance OMIM:300100 ABCD1 215 HP:0000953 Hyperpigmentation of the skin OMIM:300100 ABCD1 215 HP:0000572 Visual loss OMIM:241550 GJA1 2697 HP:0004383 Hypoplastic left heart OMIM:245400 SUCLG1 8802 HP:0001298 Encephalopathy OMIM:245400 SUCLG1 8802 HP:0002878 Respiratory failure OMIM:245400 SUCLG1 8802 HP:0003812 Phenotypic variability OMIM:245400 SUCLG1 8802 HP:0003593 Infantile onset OMIM:245400 SUCLG1 8802 HP:0000975 Hyperhidrosis OMIM:245400 SUCLG1 8802 HP:0003202 Skeletal muscle atrophy OMIM:245400 SUCLG1 8802 HP:0005941 Intermittent hyperpnea at rest OMIM:245400 SUCLG1 8802 HP:0002059 Cerebral atrophy OMIM:245400 SUCLG1 8802 HP:0001251 Ataxia OMIM:245400 SUCLG1 8802 HP:0003128 Lactic acidosis OMIM:245400 SUCLG1 8802 HP:0010864 Intellectual disability, severe OMIM:245400 SUCLG1 8802 HP:0011968 Feeding difficulties OMIM:245400 SUCLG1 8802 HP:0001250 Seizures OMIM:245400 SUCLG1 8802 HP:0002275 Poor motor coordination OMIM:245400 SUCLG1 8802 HP:0000365 Hearing impairment OMIM:245400 SUCLG1 8802 HP:0002148 Hypophosphatemia OMIM:245400 SUCLG1 8802 HP:0002317 Unsteady gait OMIM:245400 SUCLG1 8802 HP:0001510 Growth delay OMIM:245400 SUCLG1 8802 HP:0000007 Autosomal recessive inheritance OMIM:245400 SUCLG1 8802 HP:0001508 Failure to thrive OMIM:245400 SUCLG1 8802 HP:0001263 Global developmental delay OMIM:245400 SUCLG1 8802 HP:0012120 Methylmalonic aciduria OMIM:245400 SUCLG1 8802 HP:0001252 Muscular hypotonia OMIM:245400 SUCLG1 8802 HP:0000951 Abnormality of the skin OMIM:245400 SUCLG1 8802 HP:0008335 Renal aminoaciduria OMIM:245400 SUCLG1 8802 HP:0001943 Hypoglycemia OMIM:142330 HNF1A 6927 HP:0000006 Autosomal dominant inheritance OMIM:142330 HNF1A 6927 HP:0000147 Polycystic ovaries OMIM:142330 HNF1A 6927 HP:0012028 Hepatocellular adenoma OMIM:142330 HNF1A 6927 HP:0004904 Maturity-onset diabetes of the young OMIM:613869 CRYAB 1410 HP:0003236 Elevated serum creatine phosphokinase OMIM:613869 CRYAB 1410 HP:0003560 Muscular dystrophy OMIM:613869 CRYAB 1410 HP:0000007 Autosomal recessive inheritance OMIM:613869 CRYAB 1410 HP:0003678 Rapidly progressive OMIM:613869 CRYAB 1410 HP:0002104 Apnea OMIM:613869 CRYAB 1410 HP:0001371 Flexion contracture OMIM:613869 CRYAB 1410 HP:0002878 Respiratory failure OMIM:613869 CRYAB 1410 HP:0001612 Weak cry OMIM:613869 CRYAB 1410 HP:0002063 Rigidity OMIM:614131 MYO1E 4643 HP:0000100 Nephrotic syndrome OMIM:614131 MYO1E 4643 HP:0000007 Autosomal recessive inheritance OMIM:614131 MYO1E 4643 HP:0000969 Edema OMIM:614131 MYO1E 4643 HP:0003676 Progressive disorder OMIM:614131 MYO1E 4643 HP:0000097 Focal segmental glomerulosclerosis OMIM:614131 MYO1E 4643 HP:0000093 Proteinuria OMIM:614131 MYO1E 4643 HP:0012622 Chronic kidney disease OMIM:614131 MYO1E 4643 HP:0003073 Hypoalbuminemia OMIM:614131 MYO1E 4643 HP:0000790 Hematuria OMIM:614131 MYO1E 4643 HP:0000092 Tubular atrophy OMIM:614873 PEX26 55670 HP:0000505 Visual impairment OMIM:614873 PEX26 55670 HP:0000007 Autosomal recessive inheritance OMIM:614873 PEX26 55670 HP:0001263 Global developmental delay OMIM:614873 PEX26 55670 HP:0001410 Decreased liver function OMIM:614873 PEX26 55670 HP:0000407 Sensorineural hearing impairment OMIM:614873 PEX26 55670 HP:0001319 Neonatal hypotonia OMIM:614873 PEX26 55670 HP:0000556 Retinal dystrophy OMIM:300472 IGBP1 3476 HP:0000475 Broad neck OMIM:300472 IGBP1 3476 HP:0000378 Cupped ear OMIM:300472 IGBP1 3476 HP:0000470 Short neck OMIM:300472 IGBP1 3476 HP:0000175 Cleft palate OMIM:300472 IGBP1 3476 HP:0000407 Sensorineural hearing impairment OMIM:300472 IGBP1 3476 HP:0002650 Scoliosis OMIM:300472 IGBP1 3476 HP:0000639 Nystagmus OMIM:300472 IGBP1 3476 HP:0000348 High forehead OMIM:300472 IGBP1 3476 HP:0000218 High palate OMIM:300472 IGBP1 3476 HP:0000256 Macrocephaly OMIM:300472 IGBP1 3476 HP:0000347 Micrognathia OMIM:300472 IGBP1 3476 HP:0000767 Pectus excavatum OMIM:300472 IGBP1 3476 HP:0000494 Downslanted palpebral fissures OMIM:300472 IGBP1 3476 HP:0000612 Iris coloboma OMIM:300472 IGBP1 3476 HP:0000505 Visual impairment OMIM:300472 IGBP1 3476 HP:0001274 Agenesis of corpus callosum OMIM:300472 IGBP1 3476 HP:0000588 Optic nerve coloboma OMIM:300472 IGBP1 3476 HP:0100543 Cognitive impairment OMIM:300472 IGBP1 3476 HP:0004322 Short stature OMIM:300472 IGBP1 3476 HP:0000405 Conductive hearing impairment OMIM:300472 IGBP1 3476 HP:0000453 Choanal atresia OMIM:300472 IGBP1 3476 HP:0000426 Prominent nasal bridge OMIM:300472 IGBP1 3476 HP:0000368 Low-set, posteriorly rotated ears OMIM:300472 IGBP1 3476 HP:0001419 X-linked recessive inheritance OMIM:300472 IGBP1 3476 HP:0000369 Low-set ears OMIM:300472 IGBP1 3476 HP:0001643 Patent ductus arteriosus OMIM:300472 IGBP1 3476 HP:0001249 Intellectual disability OMIM:300472 IGBP1 3476 HP:0001629 Ventricular septal defect OMIM:300472 IGBP1 3476 HP:0000278 Retrognathia OMIM:604379 LIPH 200879 HP:0001006 Hypotrichosis OMIM:604379 LIPH 200879 HP:0002224 Woolly hair OMIM:604379 LIPH 200879 HP:0000535 Sparse eyebrow OMIM:604379 LIPH 200879 HP:0000653 Sparse eyelashes OMIM:604379 LIPH 200879 HP:0000007 Autosomal recessive inheritance OMIM:259050 ZBTB20 26137 HP:0000272 Malar flattening OMIM:259050 ZBTB20 26137 HP:0000337 Broad forehead OMIM:259050 ZBTB20 26137 HP:0006380 Knee flexion contracture OMIM:259050 ZBTB20 26137 HP:0003273 Hip contracture OMIM:259050 ZBTB20 26137 HP:0003198 Myopathy OMIM:259050 ZBTB20 26137 HP:0000256 Macrocephaly OMIM:259050 ZBTB20 26137 HP:0000174 Abnormality of the palate OMIM:259050 ZBTB20 26137 HP:0000771 Gynecomastia OMIM:259050 ZBTB20 26137 HP:0002221 Absent axillary hair OMIM:259050 ZBTB20 26137 HP:0003301 Irregular vertebral endplates OMIM:259050 ZBTB20 26137 HP:0000238 Hydrocephalus OMIM:259050 ZBTB20 26137 HP:0000494 Downslanted palpebral fissures OMIM:259050 ZBTB20 26137 HP:0002857 Genu valgum OMIM:259050 ZBTB20 26137 HP:0003272 Abnormality of the hip bone OMIM:259050 ZBTB20 26137 HP:0000518 Cataract OMIM:259050 ZBTB20 26137 HP:0001249 Intellectual disability OMIM:259050 ZBTB20 26137 HP:0100543 Cognitive impairment OMIM:259050 ZBTB20 26137 HP:0001252 Muscular hypotonia OMIM:259050 ZBTB20 26137 HP:0000718 Aggressive behavior OMIM:259050 ZBTB20 26137 HP:0001357 Plagiocephaly OMIM:259050 ZBTB20 26137 HP:0012062 Bone cyst OMIM:259050 ZBTB20 26137 HP:0002550 Absent facial hair OMIM:259050 ZBTB20 26137 HP:0005121 Posterior scalloping of vertebral bodies OMIM:259050 ZBTB20 26137 HP:0000508 Ptosis OMIM:259050 ZBTB20 26137 HP:0002868 Narrow iliac wings OMIM:259050 ZBTB20 26137 HP:0100716 Self-injurious behavior OMIM:259050 ZBTB20 26137 HP:0002808 Kyphosis OMIM:259050 ZBTB20 26137 HP:0000400 Macrotia OMIM:259050 ZBTB20 26137 HP:0000248 Brachycephaly OMIM:259050 ZBTB20 26137 HP:0001840 Metatarsus adductus OMIM:259050 ZBTB20 26137 HP:0009882 Short distal phalanx of finger OMIM:259050 ZBTB20 26137 HP:0000490 Deeply set eye OMIM:259050 ZBTB20 26137 HP:0008689 Bilateral cryptorchidism OMIM:259050 ZBTB20 26137 HP:0004322 Short stature OMIM:259050 ZBTB20 26137 HP:0000774 Narrow chest OMIM:259050 ZBTB20 26137 HP:0003312 Abnormal form of the vertebral bodies OMIM:259050 ZBTB20 26137 HP:0040160 Generalized osteoporosis OMIM:259050 ZBTB20 26137 HP:0000664 Synophrys OMIM:259050 ZBTB20 26137 HP:0002650 Scoliosis OMIM:259050 ZBTB20 26137 HP:0008541 Superiorly displaced ears OMIM:259050 ZBTB20 26137 HP:0001798 Anonychia OMIM:259050 ZBTB20 26137 HP:0000327 Hypoplasia of the maxilla OMIM:259050 ZBTB20 26137 HP:0001956 Truncal obesity OMIM:259050 ZBTB20 26137 HP:0001250 Seizures OMIM:259050 ZBTB20 26137 HP:0001903 Anemia OMIM:259050 ZBTB20 26137 HP:0000035 Abnormality of the testis OMIM:259050 ZBTB20 26137 HP:0001115 Posterior polar cataract OMIM:259050 ZBTB20 26137 HP:0002079 Hypoplasia of the corpus callosum OMIM:259050 ZBTB20 26137 HP:0002180 Neurodegeneration OMIM:259050 ZBTB20 26137 HP:0000767 Pectus excavatum OMIM:259050 ZBTB20 26137 HP:0002514 Cerebral calcification OMIM:259050 ZBTB20 26137 HP:0005103 Calcification of the auricular cartilage OMIM:259050 ZBTB20 26137 HP:0001761 Pes cavus OMIM:259050 ZBTB20 26137 HP:0000717 Autism OMIM:259050 ZBTB20 26137 HP:0011800 Midface retrusion OMIM:259050 ZBTB20 26137 HP:0003745 Sporadic OMIM:259050 ZBTB20 26137 HP:0000365 Hearing impairment OMIM:259050 ZBTB20 26137 HP:0002797 Osteolysis OMIM:259050 ZBTB20 26137 HP:0000405 Conductive hearing impairment OMIM:259050 ZBTB20 26137 HP:0000179 Thick lower lip vermilion OMIM:259050 ZBTB20 26137 HP:0001288 Gait disturbance OMIM:259050 ZBTB20 26137 HP:0003693 Distal amyotrophy OMIM:259050 ZBTB20 26137 HP:0005758 Basilar impression OMIM:259050 ZBTB20 26137 HP:0002376 Developmental regression OMIM:601885 GJA3 2700 HP:0000006 Autosomal dominant inheritance OMIM:601885 GJA3 2700 HP:0010920 Zonular cataract OMIM:300919 USP9X 8239 HP:0001252 Muscular hypotonia OMIM:300919 USP9X 8239 HP:0001249 Intellectual disability OMIM:300919 USP9X 8239 HP:0011304 Broad thumb OMIM:300919 USP9X 8239 HP:0004322 Short stature OMIM:300919 USP9X 8239 HP:0001263 Global developmental delay OMIM:300919 USP9X 8239 HP:0000718 Aggressive behavior OMIM:300919 USP9X 8239 HP:0011220 Prominent forehead ORPHANET:2322 KMT2D 8085 HP:0100543 Cognitive impairment ORPHANET:2322 KMT2D 8085 HP:0008736 Hypoplasia of penis ORPHANET:2322 KMT2D 8085 HP:0004322 Short stature ORPHANET:2322 KMT2D 8085 HP:0000499 Abnormality of the eyelashes ORPHANET:2322 KMT2D 8085 HP:0003272 Abnormality of the hip bone ORPHANET:2322 KMT2D 8085 HP:0000366 Abnormality of the nose ORPHANET:2322 KMT2D 8085 HP:0000508 Ptosis ORPHANET:2322 KMT2D 8085 HP:0009804 Reduced number of teeth ORPHANET:2322 KMT2D 8085 HP:0004279 Short palm ORPHANET:2322 KMT2D 8085 HP:0000175 Cleft palate ORPHANET:2322 KMT2D 8085 HP:0005338 Sparse lateral eyebrow ORPHANET:2322 KMT2D 8085 HP:0000405 Conductive hearing impairment ORPHANET:2322 KMT2D 8085 HP:0010978 Abnormality of immune system physiology ORPHANET:2322 KMT2D 8085 HP:0000776 Congenital diaphragmatic hernia ORPHANET:2322 KMT2D 8085 HP:0000486 Strabismus ORPHANET:2322 KMT2D 8085 HP:0001252 Muscular hypotonia ORPHANET:2322 KMT2D 8085 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:2322 KMT2D 8085 HP:0000691 Microdontia ORPHANET:2322 KMT2D 8085 HP:0000298 Mask-like facies ORPHANET:2322 KMT2D 8085 HP:0100542 Abnormal localization of kidney ORPHANET:2322 KMT2D 8085 HP:0000384 Preauricular skin tag ORPHANET:2322 KMT2D 8085 HP:0001250 Seizures ORPHANET:2322 KMT2D 8085 HP:0000826 Precocious puberty ORPHANET:2322 KMT2D 8085 HP:0000238 Hydrocephalus ORPHANET:2322 KMT2D 8085 HP:0002553 Highly arched eyebrow ORPHANET:2322 KMT2D 8085 HP:0002353 EEG abnormality ORPHANET:2322 KMT2D 8085 HP:0001513 Obesity ORPHANET:2322 KMT2D 8085 HP:0000252 Microcephaly ORPHANET:2322 KMT2D 8085 HP:0001671 Abnormality of the cardiac septa ORPHANET:2322 KMT2D 8085 HP:0000407 Sensorineural hearing impairment ORPHANET:2322 KMT2D 8085 HP:0000592 Blue sclerae ORPHANET:2322 KMT2D 8085 HP:0001156 Brachydactyly syndrome ORPHANET:2322 KMT2D 8085 HP:0000482 Microcornea ORPHANET:2322 KMT2D 8085 HP:0000567 Chorioretinal coloboma ORPHANET:2322 KMT2D 8085 HP:0008678 Renal hypoplasia/aplasia ORPHANET:2322 KMT2D 8085 HP:0002119 Ventriculomegaly ORPHANET:2322 KMT2D 8085 HP:0100335 Non-midline cleft lip ORPHANET:2322 KMT2D 8085 HP:0002650 Scoliosis ORPHANET:2322 KMT2D 8085 HP:0001382 Joint hypermobility ORPHANET:2322 KMT2D 8085 HP:0100267 Lip pit ORPHANET:2322 KMT2D 8085 HP:0002120 Cerebral cortical atrophy ORPHANET:2322 KMT2D 8085 HP:0000028 Cryptorchidism ORPHANET:2322 KMT2D 8085 HP:0000639 Nystagmus ORPHANET:2322 KMT2D 8085 HP:0007477 Abnormal dermatoglyphics ORPHANET:2322 KMT2D 8085 HP:0000400 Macrotia ORPHANET:2322 KMT2D 8085 HP:0100627 Displacement of the external urethral meatus ORPHANET:2322 KMT2D 8085 HP:0001679 Abnormality of the aorta ORPHANET:2322 KDM6A 7403 HP:0100543 Cognitive impairment ORPHANET:2322 KDM6A 7403 HP:0008736 Hypoplasia of penis ORPHANET:2322 KDM6A 7403 HP:0004322 Short stature ORPHANET:2322 KDM6A 7403 HP:0000499 Abnormality of the eyelashes ORPHANET:2322 KDM6A 7403 HP:0003272 Abnormality of the hip bone ORPHANET:2322 KDM6A 7403 HP:0000366 Abnormality of the nose ORPHANET:2322 KDM6A 7403 HP:0000508 Ptosis ORPHANET:2322 KDM6A 7403 HP:0009804 Reduced number of teeth ORPHANET:2322 KDM6A 7403 HP:0004279 Short palm ORPHANET:2322 KDM6A 7403 HP:0000175 Cleft palate ORPHANET:2322 KDM6A 7403 HP:0005338 Sparse lateral eyebrow ORPHANET:2322 KDM6A 7403 HP:0000405 Conductive hearing impairment ORPHANET:2322 KDM6A 7403 HP:0010978 Abnormality of immune system physiology ORPHANET:2322 KDM6A 7403 HP:0000776 Congenital diaphragmatic hernia ORPHANET:2322 KDM6A 7403 HP:0000486 Strabismus ORPHANET:2322 KDM6A 7403 HP:0001252 Muscular hypotonia ORPHANET:2322 KDM6A 7403 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:2322 KDM6A 7403 HP:0000691 Microdontia ORPHANET:2322 KDM6A 7403 HP:0000298 Mask-like facies ORPHANET:2322 KDM6A 7403 HP:0100542 Abnormal localization of kidney ORPHANET:2322 KDM6A 7403 HP:0000384 Preauricular skin tag ORPHANET:2322 KDM6A 7403 HP:0001250 Seizures ORPHANET:2322 KDM6A 7403 HP:0000826 Precocious puberty ORPHANET:2322 KDM6A 7403 HP:0000238 Hydrocephalus ORPHANET:2322 KDM6A 7403 HP:0002553 Highly arched eyebrow ORPHANET:2322 KDM6A 7403 HP:0002353 EEG abnormality ORPHANET:2322 KDM6A 7403 HP:0001513 Obesity ORPHANET:2322 KDM6A 7403 HP:0000252 Microcephaly ORPHANET:2322 KDM6A 7403 HP:0001671 Abnormality of the cardiac septa ORPHANET:2322 KDM6A 7403 HP:0000407 Sensorineural hearing impairment ORPHANET:2322 KDM6A 7403 HP:0000592 Blue sclerae ORPHANET:2322 KDM6A 7403 HP:0001156 Brachydactyly syndrome ORPHANET:2322 KDM6A 7403 HP:0000482 Microcornea ORPHANET:2322 KDM6A 7403 HP:0000567 Chorioretinal coloboma ORPHANET:2322 KDM6A 7403 HP:0008678 Renal hypoplasia/aplasia ORPHANET:2322 KDM6A 7403 HP:0002119 Ventriculomegaly ORPHANET:2322 KDM6A 7403 HP:0100335 Non-midline cleft lip ORPHANET:2322 KDM6A 7403 HP:0002650 Scoliosis ORPHANET:2322 KDM6A 7403 HP:0001382 Joint hypermobility ORPHANET:2322 KDM6A 7403 HP:0100267 Lip pit ORPHANET:2322 KDM6A 7403 HP:0002120 Cerebral cortical atrophy ORPHANET:2322 KDM6A 7403 HP:0000028 Cryptorchidism ORPHANET:2322 KDM6A 7403 HP:0000639 Nystagmus ORPHANET:2322 KDM6A 7403 HP:0007477 Abnormal dermatoglyphics ORPHANET:2322 KDM6A 7403 HP:0000400 Macrotia ORPHANET:2322 KDM6A 7403 HP:0100627 Displacement of the external urethral meatus ORPHANET:2322 KDM6A 7403 HP:0001679 Abnormality of the aorta OMIM:261540 B3GLCT 145173 HP:0000252 Microcephaly OMIM:261540 B3GLCT 145173 HP:0001511 Intrauterine growth retardation OMIM:261540 B3GLCT 145173 HP:0100589 Urogenital fistula OMIM:261540 B3GLCT 145173 HP:0001642 Pulmonic stenosis OMIM:261540 B3GLCT 145173 HP:0001773 Short foot OMIM:261540 B3GLCT 145173 HP:0000384 Preauricular skin tag OMIM:261540 B3GLCT 145173 HP:0000175 Cleft palate OMIM:261540 B3GLCT 145173 HP:0004325 Decreased body weight OMIM:261540 B3GLCT 145173 HP:0004209 Clinodactyly of the 5th finger OMIM:261540 B3GLCT 145173 HP:0008678 Renal hypoplasia/aplasia OMIM:261540 B3GLCT 145173 HP:0001537 Umbilical hernia OMIM:261540 B3GLCT 145173 HP:0004414 Abnormality of the pulmonary artery OMIM:261540 B3GLCT 145173 HP:0000069 Abnormality of the ureter OMIM:261540 B3GLCT 145173 HP:0001671 Abnormality of the cardiac septa OMIM:261540 B3GLCT 145173 HP:0000260 Wide anterior fontanel OMIM:261540 B3GLCT 145173 HP:0010743 Short metatarsal OMIM:261540 B3GLCT 145173 HP:0008897 Postnatal growth retardation OMIM:261540 B3GLCT 145173 HP:0000343 Long philtrum OMIM:261540 B3GLCT 145173 HP:0009623 Proximal placement of thumb OMIM:261540 B3GLCT 145173 HP:0000047 Hypospadias OMIM:261540 B3GLCT 145173 HP:0002996 Limited elbow movement OMIM:261540 B3GLCT 145173 HP:0003298 Spina bifida occulta OMIM:261540 B3GLCT 145173 HP:0002119 Ventriculomegaly OMIM:261540 B3GLCT 145173 HP:0000960 Sacral dimple OMIM:261540 B3GLCT 145173 HP:0005280 Depressed nasal bridge OMIM:261540 B3GLCT 145173 HP:0000316 Hypertelorism OMIM:261540 B3GLCT 145173 HP:0000501 Glaucoma OMIM:261540 B3GLCT 145173 HP:0000475 Broad neck OMIM:261540 B3GLCT 145173 HP:0100627 Displacement of the external urethral meatus OMIM:261540 B3GLCT 145173 HP:0000545 Myopia OMIM:261540 B3GLCT 145173 HP:0001770 Toe syndactyly OMIM:261540 B3GLCT 145173 HP:0011065 Conical incisor OMIM:261540 B3GLCT 145173 HP:0000008 Abnormality of female internal genitalia OMIM:261540 B3GLCT 145173 HP:0000581 Blepharophimosis OMIM:261540 B3GLCT 145173 HP:0001159 Syndactyly OMIM:261540 B3GLCT 145173 HP:0004322 Short stature OMIM:261540 B3GLCT 145173 HP:0000465 Webbed neck OMIM:261540 B3GLCT 145173 HP:0000154 Wide mouth OMIM:261540 B3GLCT 145173 HP:0001540 Diastasis recti OMIM:261540 B3GLCT 145173 HP:0008872 Feeding difficulties in infancy OMIM:261540 B3GLCT 145173 HP:0000612 Iris coloboma OMIM:261540 B3GLCT 145173 HP:0000028 Cryptorchidism OMIM:261540 B3GLCT 145173 HP:0001629 Ventricular septal defect OMIM:261540 B3GLCT 145173 HP:0000126 Hydronephrosis OMIM:261540 B3GLCT 145173 HP:0000060 Clitoral hypoplasia OMIM:261540 B3GLCT 145173 HP:0000518 Cataract OMIM:261540 B3GLCT 145173 HP:0000508 Ptosis OMIM:261540 B3GLCT 145173 HP:0000007 Autosomal recessive inheritance OMIM:261540 B3GLCT 145173 HP:0002983 Micromelia OMIM:261540 B3GLCT 145173 HP:0004404 Abnormality of the nipple OMIM:261540 B3GLCT 145173 HP:0002650 Scoliosis OMIM:261540 B3GLCT 145173 HP:0000238 Hydrocephalus OMIM:261540 B3GLCT 145173 HP:0000003 Multicystic kidney dysplasia OMIM:261540 B3GLCT 145173 HP:0002937 Hemivertebrae OMIM:261540 B3GLCT 145173 HP:0000659 Peters anomaly OMIM:261540 B3GLCT 145173 HP:0000954 Single transverse palmar crease OMIM:261540 B3GLCT 145173 HP:0000411 Protruding ear OMIM:261540 B3GLCT 145173 HP:0008726 Hypoplasia of the vagina OMIM:261540 B3GLCT 145173 HP:0000311 Round face OMIM:261540 B3GLCT 145173 HP:0000639 Nystagmus OMIM:261540 B3GLCT 145173 HP:0007833 Anterior chamber synechiae OMIM:261540 B3GLCT 145173 HP:0000233 Thin vermilion border OMIM:261540 B3GLCT 145173 HP:0000055 Abnormality of female external genitalia OMIM:261540 B3GLCT 145173 HP:0003278 Square pelvis bone OMIM:261540 B3GLCT 145173 HP:0000204 Cleft upper lip OMIM:261540 B3GLCT 145173 HP:0003196 Short nose OMIM:261540 B3GLCT 145173 HP:0001831 Short toe OMIM:261540 B3GLCT 145173 HP:0001080 Biliary tract abnormality OMIM:261540 B3GLCT 145173 HP:0000256 Macrocephaly OMIM:261540 B3GLCT 145173 HP:0000405 Conductive hearing impairment OMIM:261540 B3GLCT 145173 HP:0002263 Exaggerated cupid's bow OMIM:261540 B3GLCT 145173 HP:0011220 Prominent forehead OMIM:261540 B3GLCT 145173 HP:0000482 Microcornea OMIM:261540 B3GLCT 145173 HP:0001561 Polyhydramnios OMIM:261540 B3GLCT 145173 HP:0002059 Cerebral atrophy OMIM:261540 B3GLCT 145173 HP:0000767 Pectus excavatum OMIM:261540 B3GLCT 145173 HP:0100543 Cognitive impairment OMIM:261540 B3GLCT 145173 HP:0006887 Intellectual disability, progressive OMIM:261540 B3GLCT 145173 HP:0004467 Preauricular pit OMIM:261540 B3GLCT 145173 HP:0004279 Short palm OMIM:261540 B3GLCT 145173 HP:0000202 Oral cleft OMIM:261540 B3GLCT 145173 HP:0000347 Micrognathia OMIM:261540 B3GLCT 145173 HP:0000830 Anterior hypopituitarism OMIM:261540 B3GLCT 145173 HP:0002007 Frontal bossing OMIM:261540 B3GLCT 145173 HP:0001274 Agenesis of corpus callosum OMIM:261540 B3GLCT 145173 HP:0002219 Facial hypertrichosis OMIM:261540 B3GLCT 145173 HP:0008569 Microtia, second degree OMIM:261540 B3GLCT 145173 HP:0000013 Hypoplasia of the uterus OMIM:261540 B3GLCT 145173 HP:0000402 Stenosis of the external auditory canal OMIM:261540 B3GLCT 145173 HP:0001156 Brachydactyly syndrome OMIM:261540 B3GLCT 145173 HP:0010049 Short metacarpal OMIM:261540 B3GLCT 145173 HP:0001250 Seizures OMIM:261540 B3GLCT 145173 HP:0002120 Cerebral cortical atrophy OMIM:261540 B3GLCT 145173 HP:0100819 Intestinal fistula OMIM:261540 B3GLCT 145173 HP:0000480 Retinal coloboma OMIM:261540 B3GLCT 145173 HP:0000368 Low-set, posteriorly rotated ears OMIM:261540 B3GLCT 145173 HP:0000463 Anteverted nares OMIM:261540 B3GLCT 145173 HP:0000690 Agenesis of maxillary lateral incisor OMIM:261540 B3GLCT 145173 HP:0001631 Defect in the atrial septum OMIM:261540 B3GLCT 145173 HP:0000582 Upslanted palpebral fissure OMIM:261540 B3GLCT 145173 HP:0000505 Visual impairment OMIM:261540 B3GLCT 145173 HP:0000059 Hypoplastic labia majora OMIM:261540 B3GLCT 145173 HP:0006610 Wide intermamillary distance OMIM:261540 B3GLCT 145173 HP:0000073 Ureteral duplication OMIM:261540 B3GLCT 145173 HP:0008905 Rhizomelia OMIM:261540 B3GLCT 145173 HP:0000200 Short lingual frenulum OMIM:261540 B3GLCT 145173 HP:0000219 Thin upper lip vermilion OMIM:261540 B3GLCT 145173 HP:0000648 Optic atrophy OMIM:261540 B3GLCT 145173 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:261540 B3GLCT 145173 HP:0005608 Bilobate gallbladder OMIM:261540 B3GLCT 145173 HP:0001363 Craniosynostosis OMIM:261540 B3GLCT 145173 HP:0001761 Pes cavus OMIM:261540 B3GLCT 145173 HP:0001388 Joint laxity OMIM:261540 B3GLCT 145173 HP:0007759 Opacification of the corneal stroma OMIM:261540 B3GLCT 145173 HP:0003561 Birth length less than 3rd percentile OMIM:615539 DSE 29940 HP:0000218 High palate OMIM:615539 DSE 29940 HP:0000494 Downslanted palpebral fissures OMIM:615539 DSE 29940 HP:0002194 Delayed gross motor development OMIM:615539 DSE 29940 HP:0000592 Blue sclerae OMIM:615539 DSE 29940 HP:0001762 Talipes equinovarus OMIM:615539 DSE 29940 HP:0002007 Frontal bossing OMIM:615539 DSE 29940 HP:0001166 Arachnodactyly OMIM:615539 DSE 29940 HP:0001181 Adducted thumb OMIM:615539 DSE 29940 HP:0000007 Autosomal recessive inheritance OMIM:615539 DSE 29940 HP:0000023 Inguinal hernia OMIM:615539 DSE 29940 HP:0000248 Brachycephaly OMIM:615539 DSE 29940 HP:0000678 Dental crowding OMIM:615539 DSE 29940 HP:0001655 Patent foramen ovale OMIM:615539 DSE 29940 HP:0003324 Generalized muscle weakness OMIM:615539 DSE 29940 HP:0000411 Protruding ear OMIM:615539 DSE 29940 HP:0000506 Telecanthus ORPHANET:99000 PRPH2 5961 HP:0000505 Visual impairment ORPHANET:99000 PRPH2 5961 HP:0007703 Abnormal retinal pigmentation ORPHANET:99000 PRPH2 5961 HP:0001139 Choroideremia ORPHANET:99000 PRPH2 5961 HP:0000551 Abnormality of color vision ORPHANET:99000 PRPH2 5961 HP:0001123 Visual field defect ORPHANET:99000 PRPH2 5961 HP:0001103 Abnormality of the macula ORPHANET:99000 PRPH2 5961 HP:0000541 Retinal detachment ORPHANET:99000 BEST1 7439 HP:0000505 Visual impairment ORPHANET:99000 BEST1 7439 HP:0007703 Abnormal retinal pigmentation ORPHANET:99000 BEST1 7439 HP:0001139 Choroideremia ORPHANET:99000 BEST1 7439 HP:0000551 Abnormality of color vision ORPHANET:99000 BEST1 7439 HP:0001123 Visual field defect ORPHANET:99000 BEST1 7439 HP:0001103 Abnormality of the macula ORPHANET:99000 BEST1 7439 HP:0000541 Retinal detachment ORPHANET:99000 IMPG2 50939 HP:0000505 Visual impairment ORPHANET:99000 IMPG2 50939 HP:0007703 Abnormal retinal pigmentation ORPHANET:99000 IMPG2 50939 HP:0001139 Choroideremia ORPHANET:99000 IMPG2 50939 HP:0000551 Abnormality of color vision ORPHANET:99000 IMPG2 50939 HP:0001123 Visual field defect ORPHANET:99000 IMPG2 50939 HP:0001103 Abnormality of the macula ORPHANET:99000 IMPG2 50939 HP:0000541 Retinal detachment ORPHANET:99000 IMPG1 3617 HP:0000505 Visual impairment ORPHANET:99000 IMPG1 3617 HP:0007703 Abnormal retinal pigmentation ORPHANET:99000 IMPG1 3617 HP:0001139 Choroideremia ORPHANET:99000 IMPG1 3617 HP:0000551 Abnormality of color vision ORPHANET:99000 IMPG1 3617 HP:0001123 Visual field defect ORPHANET:99000 IMPG1 3617 HP:0001103 Abnormality of the macula ORPHANET:99000 IMPG1 3617 HP:0000541 Retinal detachment OMIM:186000 HOXD13 3239 HP:0006042 Y-shaped metacarpals OMIM:186000 HOXD13 3239 HP:0001830 Postaxial foot polydactyly OMIM:186000 HOXD13 3239 HP:0006159 Mesoaxial hand polydactyly OMIM:186000 HOXD13 3239 HP:0000006 Autosomal dominant inheritance OMIM:186000 HOXD13 3239 HP:0004209 Clinodactyly of the 5th finger OMIM:186000 HOXD13 3239 HP:0001841 Preaxial foot polydactyly OMIM:186000 HOXD13 3239 HP:0001501 6 metacarpals OMIM:186000 HOXD13 3239 HP:0004692 4-5 toe syndactyly OMIM:186000 HOXD13 3239 HP:0006097 3-4 finger syndactyly OMIM:186000 HOXD13 3239 HP:0006101 Finger syndactyly OMIM:186000 HOXD13 3239 HP:0009185 Contracture of the proximal interphalangeal joint of the 5th finger OMIM:186000 HOXD13 3239 HP:0004220 Short middle phalanx of the 5th finger OMIM:186000 HOXD13 3239 HP:0008083 2nd-5th toe middle phalangeal hypoplasia OMIM:268200 LPIN1 23175 HP:0001945 Fever OMIM:268200 LPIN1 23175 HP:0002153 Hyperkalemia OMIM:268200 LPIN1 23175 HP:0001324 Muscle weakness OMIM:268200 LPIN1 23175 HP:0002913 Myoglobinuria OMIM:268200 LPIN1 23175 HP:0003236 Elevated serum creatine phosphokinase OMIM:268200 LPIN1 23175 HP:0001284 Areflexia OMIM:268200 LPIN1 23175 HP:0003326 Myalgia OMIM:268200 LPIN1 23175 HP:0008942 Acute rhabdomyolysis OMIM:268200 LPIN1 23175 HP:0001919 Acute kidney injury OMIM:268200 LPIN1 23175 HP:0001265 Hyporeflexia OMIM:268200 LPIN1 23175 HP:0000007 Autosomal recessive inheritance OMIM:614504 HARS 3035 HP:0000543 Optic disc pallor OMIM:614504 HARS 3035 HP:0002078 Truncal ataxia OMIM:614504 HARS 3035 HP:0000007 Autosomal recessive inheritance OMIM:614504 HARS 3035 HP:0000666 Horizontal nystagmus OMIM:614504 HARS 3035 HP:0000505 Visual impairment OMIM:614504 HARS 3035 HP:0002194 Delayed gross motor development OMIM:614504 HARS 3035 HP:0000613 Photophobia OMIM:614504 HARS 3035 HP:0000365 Hearing impairment OMIM:153700 BEST1 7439 HP:0001103 Abnormality of the macula OMIM:153700 BEST1 7439 HP:0000006 Autosomal dominant inheritance OMIM:153700 BEST1 7439 HP:0008028 Cystoid macular degeneration OMIM:153700 BEST1 7439 HP:0001123 Visual field defect OMIM:153700 BEST1 7439 HP:0007754 Macular dystrophy OMIM:153700 BEST1 7439 HP:0000505 Visual impairment OMIM:153700 BEST1 7439 HP:0001139 Choroideremia OMIM:153700 BEST1 7439 HP:0000551 Abnormality of color vision OMIM:153700 BEST1 7439 HP:0000512 Abnormal electroretinogram OMIM:266900 NPHP1 4867 HP:0000090 Nephronophthisis OMIM:266900 NPHP1 4867 HP:0000547 Tapetoretinal degeneration OMIM:266900 NPHP1 4867 HP:0000007 Autosomal recessive inheritance OMIM:266900 NPHP1 4867 HP:0000103 Polyuria OMIM:266900 NPHP1 4867 HP:0001959 Polydipsia OMIM:266900 NPHP1 4867 HP:0001903 Anemia OMIM:266900 NPHP1 4867 HP:0001425 Heterogeneous OMIM:266900 NPHP1 4867 HP:0003774 Stage 5 chronic kidney disease OMIM:611363 TBX20 57057 HP:0000006 Autosomal dominant inheritance OMIM:611363 TBX20 57057 HP:0001680 Coarctation of aorta OMIM:611363 TBX20 57057 HP:0001655 Patent foramen ovale OMIM:226980 EIF2AK3 9451 HP:0000083 Renal insufficiency OMIM:226980 EIF2AK3 9451 HP:0005280 Depressed nasal bridge OMIM:226980 EIF2AK3 9451 HP:0000316 Hypertelorism OMIM:226980 EIF2AK3 9451 HP:0006554 Acute hepatic failure OMIM:226980 EIF2AK3 9451 HP:0002673 Coxa valga OMIM:226980 EIF2AK3 9451 HP:0010978 Abnormality of immune system physiology OMIM:226980 EIF2AK3 9451 HP:0002240 Hepatomegaly OMIM:226980 EIF2AK3 9451 HP:0002808 Kyphosis OMIM:226980 EIF2AK3 9451 HP:0010230 Cone-shaped epiphyses of the phalanges of the hand OMIM:226980 EIF2AK3 9451 HP:0005978 Type II diabetes mellitus OMIM:226980 EIF2AK3 9451 HP:0002750 Delayed skeletal maturation OMIM:226980 EIF2AK3 9451 HP:0003301 Irregular vertebral endplates OMIM:226980 EIF2AK3 9451 HP:0000821 Hypothyroidism OMIM:226980 EIF2AK3 9451 HP:0002857 Genu valgum OMIM:226980 EIF2AK3 9451 HP:0002269 Abnormality of neuronal migration OMIM:226980 EIF2AK3 9451 HP:0003307 Hyperlordosis OMIM:226980 EIF2AK3 9451 HP:0002757 Recurrent fractures OMIM:226980 EIF2AK3 9451 HP:0001250 Seizures OMIM:226980 EIF2AK3 9451 HP:0003593 Infantile onset OMIM:226980 EIF2AK3 9451 HP:0002868 Narrow iliac wings OMIM:226980 EIF2AK3 9451 HP:0010168 Ivory epiphyses of the toes OMIM:226980 EIF2AK3 9451 HP:0002656 Epiphyseal dysplasia OMIM:226980 EIF2AK3 9451 HP:0001263 Global developmental delay OMIM:226980 EIF2AK3 9451 HP:0001943 Hypoglycemia OMIM:226980 EIF2AK3 9451 HP:0100800 Aplasia/Hypoplasia of the pancreas OMIM:226980 EIF2AK3 9451 HP:0000218 High palate OMIM:226980 EIF2AK3 9451 HP:0000582 Upslanted palpebral fissure OMIM:226980 EIF2AK3 9451 HP:0000939 Osteoporosis OMIM:226980 EIF2AK3 9451 HP:0003071 Flattened epiphysis OMIM:226980 EIF2AK3 9451 HP:0010585 Small epiphyses OMIM:226980 EIF2AK3 9451 HP:0001738 Exocrine pancreatic insufficiency OMIM:226980 EIF2AK3 9451 HP:0001511 Intrauterine growth retardation OMIM:226980 EIF2AK3 9451 HP:0030043 Hip Subluxation OMIM:226980 EIF2AK3 9451 HP:0004322 Short stature OMIM:226980 EIF2AK3 9451 HP:0002910 Elevated hepatic transaminases OMIM:226980 EIF2AK3 9451 HP:0008134 Irregular tarsal ossification OMIM:226980 EIF2AK3 9451 HP:0000926 Platyspondyly OMIM:226980 EIF2AK3 9451 HP:0000944 Abnormality of the metaphyses OMIM:226980 EIF2AK3 9451 HP:0004236 Irregular carpal bones OMIM:226980 EIF2AK3 9451 HP:0000252 Microcephaly OMIM:226980 EIF2AK3 9451 HP:0006274 Reduced pancreatic beta cells OMIM:226980 EIF2AK3 9451 HP:0100543 Cognitive impairment OMIM:226980 EIF2AK3 9451 HP:0010306 Short thorax OMIM:226980 EIF2AK3 9451 HP:0010234 Ivory epiphyses of the phalanges of the hand OMIM:226980 EIF2AK3 9451 HP:0002654 Multiple epiphyseal dysplasia OMIM:226980 EIF2AK3 9451 HP:0001498 Carpal bone hypoplasia OMIM:226980 EIF2AK3 9451 HP:0001874 Abnormality of neutrophils OMIM:226980 EIF2AK3 9451 HP:0001276 Hypertonia OMIM:226980 EIF2AK3 9451 HP:0000831 Insulin-resistant diabetes mellitus OMIM:226980 EIF2AK3 9451 HP:0100626 Chronic hepatic failure OMIM:226980 EIF2AK3 9451 HP:0000007 Autosomal recessive inheritance OMIM:226980 EIF2AK3 9451 HP:0000112 Nephropathy OMIM:226980 EIF2AK3 9451 HP:0002827 Hip dislocation OMIM:226980 EIF2AK3 9451 HP:0006110 Shortening of all middle phalanges of the fingers OMIM:226980 EIF2AK3 9451 HP:0001288 Gait disturbance OMIM:226980 EIF2AK3 9451 HP:0001156 Brachydactyly syndrome OMIM:226980 EIF2AK3 9451 HP:0001552 Barrel-shaped chest OMIM:226980 EIF2AK3 9451 HP:0003311 Hypoplasia of the odontoid process OMIM:226980 EIF2AK3 9451 HP:0004467 Preauricular pit OMIM:300853 MAGT1 84061 HP:0005407 Decreased number of CD4+ T cells OMIM:300853 MAGT1 84061 HP:0002665 Lymphoma OMIM:300853 MAGT1 84061 HP:0001417 X-linked inheritance OMIM:300853 MAGT1 84061 HP:0004429 Recurrent viral infections OMIM:300853 MAGT1 84061 HP:0005419 Decreased T cell activation OMIM:300853 MAGT1 84061 HP:0002721 Immunodeficiency OMIM:114550 MET 4233 HP:0000006 Autosomal dominant inheritance OMIM:114550 MET 4233 HP:0006572 Subacute progressive viral hepatitis OMIM:114550 MET 4233 HP:0001428 Somatic mutation OMIM:114550 MET 4233 HP:0001413 Micronodular cirrhosis OMIM:114550 MET 4233 HP:0001402 Hepatocellular carcinoma OMIM:114550 APC 324 HP:0000006 Autosomal dominant inheritance OMIM:114550 APC 324 HP:0006572 Subacute progressive viral hepatitis OMIM:114550 APC 324 HP:0001428 Somatic mutation OMIM:114550 APC 324 HP:0001413 Micronodular cirrhosis OMIM:114550 APC 324 HP:0001402 Hepatocellular carcinoma OMIM:114550 IGF2R 3482 HP:0000006 Autosomal dominant inheritance OMIM:114550 IGF2R 3482 HP:0006572 Subacute progressive viral hepatitis OMIM:114550 IGF2R 3482 HP:0001428 Somatic mutation OMIM:114550 IGF2R 3482 HP:0001413 Micronodular cirrhosis OMIM:114550 IGF2R 3482 HP:0001402 Hepatocellular carcinoma OMIM:114550 PIK3CA 5290 HP:0000006 Autosomal dominant inheritance OMIM:114550 PIK3CA 5290 HP:0006572 Subacute progressive viral hepatitis OMIM:114550 PIK3CA 5290 HP:0001428 Somatic mutation OMIM:114550 PIK3CA 5290 HP:0001413 Micronodular cirrhosis OMIM:114550 PIK3CA 5290 HP:0001402 Hepatocellular carcinoma OMIM:114550 CASP8 841 HP:0000006 Autosomal dominant inheritance OMIM:114550 CASP8 841 HP:0006572 Subacute progressive viral hepatitis OMIM:114550 CASP8 841 HP:0001428 Somatic mutation OMIM:114550 CASP8 841 HP:0001413 Micronodular cirrhosis OMIM:114550 CASP8 841 HP:0001402 Hepatocellular carcinoma OMIM:114550 TP53 7157 HP:0000006 Autosomal dominant inheritance OMIM:114550 TP53 7157 HP:0006572 Subacute progressive viral hepatitis OMIM:114550 TP53 7157 HP:0001428 Somatic mutation OMIM:114550 TP53 7157 HP:0001413 Micronodular cirrhosis OMIM:114550 TP53 7157 HP:0001402 Hepatocellular carcinoma OMIM:114550 AXIN1 8312 HP:0000006 Autosomal dominant inheritance OMIM:114550 AXIN1 8312 HP:0006572 Subacute progressive viral hepatitis OMIM:114550 AXIN1 8312 HP:0001428 Somatic mutation OMIM:114550 AXIN1 8312 HP:0001413 Micronodular cirrhosis OMIM:114550 AXIN1 8312 HP:0001402 Hepatocellular carcinoma OMIM:114550 CTNNB1 1499 HP:0000006 Autosomal dominant inheritance OMIM:114550 CTNNB1 1499 HP:0006572 Subacute progressive viral hepatitis OMIM:114550 CTNNB1 1499 HP:0001428 Somatic mutation OMIM:114550 CTNNB1 1499 HP:0001413 Micronodular cirrhosis OMIM:114550 CTNNB1 1499 HP:0001402 Hepatocellular carcinoma OMIM:114550 PDGFRL 5157 HP:0000006 Autosomal dominant inheritance OMIM:114550 PDGFRL 5157 HP:0006572 Subacute progressive viral hepatitis OMIM:114550 PDGFRL 5157 HP:0001428 Somatic mutation OMIM:114550 PDGFRL 5157 HP:0001413 Micronodular cirrhosis OMIM:114550 PDGFRL 5157 HP:0001402 Hepatocellular carcinoma OMIM:176920 AKT1 207 HP:0000147 Polycystic ovaries OMIM:176920 AKT1 207 HP:0000040 Long penis OMIM:176920 AKT1 207 HP:0100521 Neoplasm of the thymus OMIM:176920 AKT1 207 HP:0000545 Myopia OMIM:176920 AKT1 207 HP:0007400 Irregular hyperpigmentation OMIM:176920 AKT1 207 HP:0000486 Strabismus OMIM:176920 AKT1 207 HP:0006101 Finger syndactyly OMIM:176920 AKT1 207 HP:0000508 Ptosis OMIM:176920 AKT1 207 HP:0000998 Hypertrichosis OMIM:176920 AKT1 207 HP:0001376 Limitation of joint mobility OMIM:176920 AKT1 207 HP:0003272 Abnormality of the hip bone OMIM:176920 AKT1 207 HP:0000268 Dolichocephaly OMIM:176920 AKT1 207 HP:0000368 Low-set, posteriorly rotated ears OMIM:176920 AKT1 207 HP:0004472 Mandibular hyperostosis OMIM:176920 AKT1 207 HP:0002652 Skeletal dysplasia OMIM:176920 AKT1 207 HP:0010516 Thymus hyperplasia OMIM:176920 AKT1 207 HP:0003312 Abnormal form of the vertebral bodies OMIM:176920 AKT1 207 HP:0001645 Sudden cardiac death OMIM:176920 AKT1 207 HP:0000098 Tall stature OMIM:176920 AKT1 207 HP:0100615 Ovarian neoplasm OMIM:176920 AKT1 207 HP:0000316 Hypertelorism OMIM:176920 AKT1 207 HP:0002858 Meningioma OMIM:176920 AKT1 207 HP:0005280 Depressed nasal bridge OMIM:176920 AKT1 207 HP:0100777 Exostoses OMIM:176920 AKT1 207 HP:0002650 Scoliosis OMIM:176920 AKT1 207 HP:0000494 Downslanted palpebral fissures OMIM:176920 AKT1 207 HP:0001822 Hallux valgus OMIM:176920 AKT1 207 HP:0001883 Talipes OMIM:176920 AKT1 207 HP:0002625 Deep venous thrombosis OMIM:176920 AKT1 207 HP:0100780 Conjunctival hamartoma OMIM:176920 AKT1 207 HP:0002176 Spinal cord compression OMIM:176920 AKT1 207 HP:0004325 Decreased body weight OMIM:176920 AKT1 207 HP:0003416 Spinal canal stenosis OMIM:176920 AKT1 207 HP:0004420 Arterial thrombosis OMIM:176920 AKT1 207 HP:0004209 Clinodactyly of the 5th finger OMIM:176920 AKT1 207 HP:0100026 Arteriovenous malformation OMIM:176920 AKT1 207 HP:0000962 Hyperkeratosis OMIM:176920 AKT1 207 HP:0002342 Intellectual disability, moderate OMIM:176920 AKT1 207 HP:0100761 Visceral angiomatosis OMIM:176920 AKT1 207 HP:0001250 Seizures OMIM:176920 AKT1 207 HP:0009594 Retinal hamartoma OMIM:176920 AKT1 207 HP:0001744 Splenomegaly OMIM:176920 AKT1 207 HP:0001597 Abnormality of the nail OMIM:176920 AKT1 207 HP:0000463 Anteverted nares OMIM:176920 AKT1 207 HP:0100730 Bronchogenic cyst OMIM:176920 AKT1 207 HP:0001012 Multiple lipomas OMIM:176920 AKT1 207 HP:0100559 Lower limb asymmetry OMIM:176920 AKT1 207 HP:0100746 Macrodactyly of finger OMIM:176920 AKT1 207 HP:0000256 Macrocephaly OMIM:176920 AKT1 207 HP:0005465 Facial hyperostosis OMIM:176920 AKT1 207 HP:0000541 Retinal detachment OMIM:176920 AKT1 207 HP:0000567 Chorioretinal coloboma OMIM:176920 AKT1 207 HP:0000520 Proptosis OMIM:176920 AKT1 207 HP:0100764 Lymphangioma OMIM:176920 AKT1 207 HP:0000107 Renal cyst OMIM:176920 AKT1 207 HP:0001100 Heterochromia iridis OMIM:176920 AKT1 207 HP:0010788 Testicular neoplasm OMIM:176920 AKT1 207 HP:0009804 Reduced number of teeth OMIM:176920 AKT1 207 HP:0000957 Cafe-au-lait spot OMIM:176920 AKT1 207 HP:0003202 Skeletal muscle atrophy OMIM:176920 AKT1 207 HP:0000413 Atresia of the external auditory canal OMIM:176920 AKT1 207 HP:0000464 Abnormality of the neck OMIM:176920 AKT1 207 HP:0003019 Abnormality of the wrist OMIM:176920 AKT1 207 HP:0002751 Kyphoscoliosis OMIM:176920 AKT1 207 HP:0000682 Abnormality of dental enamel OMIM:176920 AKT1 207 HP:0010978 Abnormality of immune system physiology OMIM:176920 AKT1 207 HP:0003745 Sporadic OMIM:176920 AKT1 207 HP:0001363 Craniosynostosis OMIM:176920 AKT1 207 HP:0007703 Abnormal retinal pigmentation OMIM:176920 AKT1 207 HP:0002204 Pulmonary embolism OMIM:176920 AKT1 207 HP:0000995 Melanocytic nevus OMIM:176920 AKT1 207 HP:0002808 Kyphosis OMIM:176920 AKT1 207 HP:0003764 Nevus OMIM:176920 AKT1 207 HP:0001555 Asymmetry of the thorax OMIM:176920 AKT1 207 HP:0000557 Buphthalmos OMIM:176920 AKT1 207 HP:0000276 Long face OMIM:176920 AKT1 207 HP:0000194 Open mouth OMIM:176920 AKT1 207 HP:0002753 Thin bony cortex OMIM:176920 AKT1 207 HP:0100543 Cognitive impairment OMIM:176920 AKT1 207 HP:0007403 Hypertrophy of skin of soles OMIM:176920 AKT1 207 HP:0004490 Calvarial hyperostosis OMIM:176920 AKT1 207 HP:0007440 Generalized hyperpigmentation OMIM:176920 AKT1 207 HP:0100526 Neoplasm of the lung OMIM:176920 AKT1 207 HP:0010497 Sirenomelia OMIM:176920 AKT1 207 HP:0003198 Myopathy OMIM:176920 AKT1 207 HP:0000670 Carious teeth OMIM:176920 AKT1 207 HP:0007483 Depigmentation/hyperpigmentation of skin OMIM:176920 AKT1 207 HP:0002564 Malformation of the heart and great vessels OMIM:176920 AKT1 207 HP:0012721 Venous malformation OMIM:176920 AKT1 207 HP:0001140 Epibulbar dermoid OMIM:176920 AKT1 207 HP:0001028 Hemangioma OMIM:176920 AKT1 207 HP:0012032 Lipoma OMIM:176920 AKT1 207 HP:0001004 Lymphedema OMIM:176920 AKT1 207 HP:0000518 Cataract OMIM:176920 AKT1 207 HP:0000053 Macroorchidism OMIM:176920 AKT1 207 HP:0001528 Hemihypertrophy ORPHANET:79152 SLC17A9 63910 HP:0000989 Pruritus ORPHANET:79152 SLC17A9 63910 HP:0008069 Neoplasm of the skin ORPHANET:79152 SLC17A9 63910 HP:0000962 Hyperkeratosis ORPHANET:79152 SLC17A9 63910 HP:0000966 Hypohidrosis ORPHANET:79152 SLC17A9 63910 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:79152 SLC17A9 63910 HP:0000992 Cutaneous photosensitivity ORPHANET:79152 MVK 4598 HP:0000989 Pruritus ORPHANET:79152 MVK 4598 HP:0008069 Neoplasm of the skin ORPHANET:79152 MVK 4598 HP:0000962 Hyperkeratosis ORPHANET:79152 MVK 4598 HP:0000966 Hypohidrosis ORPHANET:79152 MVK 4598 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:79152 MVK 4598 HP:0000992 Cutaneous photosensitivity OMIM:613885 TCTN2 79867 HP:0003196 Short nose OMIM:613885 TCTN2 79867 HP:0002084 Encephalocele OMIM:613885 TCTN2 79867 HP:0000204 Cleft upper lip OMIM:613885 TCTN2 79867 HP:0000568 Microphthalmos OMIM:613885 TCTN2 79867 HP:0000175 Cleft palate OMIM:613885 TCTN2 79867 HP:0000470 Short neck OMIM:613885 TCTN2 79867 HP:0000252 Microcephaly OMIM:613885 TCTN2 79867 HP:0000007 Autosomal recessive inheritance OMIM:613885 TCTN2 79867 HP:0003270 Abdominal distention OMIM:613885 TCTN2 79867 HP:0000337 Broad forehead OMIM:613885 TCTN2 79867 HP:0001162 Postaxial hand polydactyly OMIM:613885 TCTN2 79867 HP:0001762 Talipes equinovarus OMIM:613885 TCTN2 79867 HP:0000528 Anophthalmia OMIM:613885 TCTN2 79867 HP:0000457 Depressed nasal ridge OMIM:613885 TCTN2 79867 HP:0004719 Hyperechogenic kidneys OMIM:613885 TCTN2 79867 HP:0000369 Low-set ears OMIM:613885 TCTN2 79867 HP:0010442 Polydactyly OMIM:119500 IRF6 3664 HP:0000059 Hypoplastic labia majora OMIM:119500 IRF6 3664 HP:0008726 Hypoplasia of the vagina OMIM:119500 IRF6 3664 HP:0000204 Cleft upper lip OMIM:119500 IRF6 3664 HP:0006101 Finger syndactyly OMIM:119500 IRF6 3664 HP:0000028 Cryptorchidism OMIM:119500 IRF6 3664 HP:0000726 Dementia OMIM:119500 IRF6 3664 HP:0000055 Abnormality of female external genitalia OMIM:119500 IRF6 3664 HP:0000772 Abnormality of the ribs OMIM:119500 IRF6 3664 HP:0001376 Limitation of joint mobility OMIM:119500 IRF6 3664 HP:0000006 Autosomal dominant inheritance OMIM:119500 IRF6 3664 HP:0008388 Abnormality of the toenails OMIM:119500 IRF6 3664 HP:0000013 Hypoplasia of the uterus OMIM:119500 IRF6 3664 HP:0000196 Lower lip pit OMIM:119500 IRF6 3664 HP:0000998 Hypertrichosis OMIM:119500 IRF6 3664 HP:0000175 Cleft palate OMIM:119500 IRF6 3664 HP:0000347 Micrognathia OMIM:119500 IRF6 3664 HP:0001171 Split hand OMIM:119500 IRF6 3664 HP:0100543 Cognitive impairment OMIM:119500 IRF6 3664 HP:0003298 Spina bifida occulta OMIM:119500 IRF6 3664 HP:0000048 Bifid scrotum OMIM:119500 IRF6 3664 HP:0000453 Choanal atresia OMIM:119500 IRF6 3664 HP:0008050 Abnormality of the palpebral fissures OMIM:119500 IRF6 3664 HP:0000062 Ambiguous genitalia OMIM:119500 IRF6 3664 HP:0009756 Popliteal pterygium OMIM:119500 IRF6 3664 HP:0001770 Toe syndactyly OMIM:119500 IRF6 3664 HP:0100267 Lip pit OMIM:119500 IRF6 3664 HP:0009757 Intercrural pterygium OMIM:119500 IRF6 3664 HP:0001883 Talipes OMIM:119500 IRF6 3664 HP:0009755 Ankyloblepharon OMIM:119500 IRF6 3664 HP:0010554 Cutaneous finger syndactyly OMIM:119500 IRF6 3664 HP:0000233 Thin vermilion border OMIM:119500 IRF6 3664 HP:0001762 Talipes equinovarus OMIM:119500 IRF6 3664 HP:0100335 Non-midline cleft lip OMIM:119500 IRF6 3664 HP:0009754 Fibrous syngnathia OMIM:119500 IRF6 3664 HP:0009758 Pyramidal skinfold extending from the base to the top of the nails OMIM:119500 IRF6 3664 HP:0002650 Scoliosis OMIM:119500 IRF6 3664 HP:0000046 Scrotal hypoplasia OMIM:614219 DOCK6 57572 HP:0001263 Global developmental delay OMIM:614219 DOCK6 57572 HP:0000954 Single transverse palmar crease OMIM:614219 DOCK6 57572 HP:0000965 Cutis marmorata OMIM:614219 DOCK6 57572 HP:0000256 Macrocephaly OMIM:614219 DOCK6 57572 HP:0001250 Seizures OMIM:614219 DOCK6 57572 HP:0000414 Bulbous nose OMIM:614219 DOCK6 57572 HP:0001252 Muscular hypotonia OMIM:614219 DOCK6 57572 HP:0000519 Congenital cataract OMIM:614219 DOCK6 57572 HP:0045025 Small palpebral fissure OMIM:614219 DOCK6 57572 HP:0002059 Cerebral atrophy OMIM:614219 DOCK6 57572 HP:0000411 Protruding ear OMIM:614219 DOCK6 57572 HP:0006951 Retrocerebellar cyst OMIM:614219 DOCK6 57572 HP:0000486 Strabismus OMIM:614219 DOCK6 57572 HP:0002126 Polymicrogyria OMIM:614219 DOCK6 57572 HP:0000007 Autosomal recessive inheritance OMIM:614219 DOCK6 57572 HP:0000369 Low-set ears OMIM:614219 DOCK6 57572 HP:0000648 Optic atrophy OMIM:614219 DOCK6 57572 HP:0001792 Small nail OMIM:614219 DOCK6 57572 HP:0000294 Low anterior hairline OMIM:614219 DOCK6 57572 HP:0001562 Oligohydramnios OMIM:614219 DOCK6 57572 HP:0000568 Microphthalmos OMIM:614219 DOCK6 57572 HP:0000252 Microcephaly OMIM:614219 DOCK6 57572 HP:0000347 Micrognathia OMIM:614219 DOCK6 57572 HP:0005280 Depressed nasal bridge OMIM:614219 DOCK6 57572 HP:0000316 Hypertelorism ORPHANET:743 PROS1 5627 HP:0200042 Skin ulcer ORPHANET:743 PROS1 5627 HP:0005293 Venous insufficiency ORPHANET:743 PROS1 5627 HP:0004418 Thrombophlebitis ORPHANET:743 PROS1 5627 HP:0001933 Subcutaneous hemorrhage ORPHANET:743 PROS1 5627 HP:0002204 Pulmonary embolism ORPHANET:743 PROS1 5627 HP:0100758 Gangrene ORPHANET:743 PROS1 5627 HP:0000963 Thin skin ORPHANET:743 PROS1 5627 HP:0100659 Abnormality of the cerebral vasculature ORPHANET:743 PROS1 5627 HP:0004420 Arterial thrombosis ORPHANET:743 PROS1 5627 HP:0001000 Abnormality of skin pigmentation ORPHANET:743 PROS1 5627 HP:0000488 Retinopathy OMIM:148600 AAGAB 79719 HP:0003584 Late onset OMIM:148600 AAGAB 79719 HP:0001425 Heterogeneous OMIM:148600 AAGAB 79719 HP:0000006 Autosomal dominant inheritance OMIM:148600 AAGAB 79719 HP:0000951 Abnormality of the skin OMIM:120790 SERPING1 710 HP:0002725 Systemic lupus erythematosus OMIM:120790 SERPING1 710 HP:0000006 Autosomal dominant inheritance OMIM:613954 VCP 7415 HP:0000006 Autosomal dominant inheritance OMIM:613954 VCP 7415 HP:0002380 Fasciculations OMIM:613954 VCP 7415 HP:0003202 Skeletal muscle atrophy OMIM:613954 VCP 7415 HP:0001324 Muscle weakness OMIM:613954 VCP 7415 HP:0001260 Dysarthria OMIM:613954 VCP 7415 HP:0007354 Amyotrophic lateral sclerosis OMIM:176670 LMNA 4000 HP:0007495 Prematurely aged appearance OMIM:176670 LMNA 4000 HP:0002797 Osteolysis OMIM:176670 LMNA 4000 HP:0001800 Hypoplastic toenails OMIM:176670 LMNA 4000 HP:0001063 Acrocyanosis OMIM:176670 LMNA 4000 HP:0007485 Absence of subcutaneous fat OMIM:176670 LMNA 4000 HP:0004416 Precocious atherosclerosis OMIM:176670 LMNA 4000 HP:0000889 Abnormality of the clavicle OMIM:176670 LMNA 4000 HP:0011800 Midface retrusion OMIM:176670 LMNA 4000 HP:0005181 Premature coronary artery disease OMIM:176670 LMNA 4000 HP:0000078 Abnormality of the genital system OMIM:176670 LMNA 4000 HP:0001288 Gait disturbance OMIM:176670 LMNA 4000 HP:0003272 Abnormality of the hip bone OMIM:176670 LMNA 4000 HP:0002652 Skeletal dysplasia OMIM:176670 LMNA 4000 HP:0000006 Autosomal dominant inheritance OMIM:176670 LMNA 4000 HP:0100679 Lack of skin elasticity OMIM:176670 LMNA 4000 HP:0009741 Nephrosclerosis OMIM:176670 LMNA 4000 HP:0001658 Myocardial infarction OMIM:176670 LMNA 4000 HP:0000684 Delayed eruption of teeth OMIM:176670 LMNA 4000 HP:0001677 Coronary artery disease OMIM:176670 LMNA 4000 HP:0001635 Congestive heart failure OMIM:176670 LMNA 4000 HP:0000347 Micrognathia OMIM:176670 LMNA 4000 HP:0001231 Abnormality of the fingernails OMIM:176670 LMNA 4000 HP:0009124 Abnormality of adipose tissue OMIM:176670 LMNA 4000 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:176670 LMNA 4000 HP:0005744 Generalized osteoporosis with pathologic fractures OMIM:176670 LMNA 4000 HP:0001681 Angina pectoris OMIM:176670 LMNA 4000 HP:0001596 Alopecia OMIM:176670 LMNA 4000 HP:0001608 Abnormality of the voice OMIM:176670 LMNA 4000 HP:0000520 Proptosis OMIM:176670 LMNA 4000 HP:0000275 Narrow face OMIM:176670 LMNA 4000 HP:0009882 Short distal phalanx of finger OMIM:176670 LMNA 4000 HP:0002829 Arthralgia OMIM:176670 LMNA 4000 HP:0009804 Reduced number of teeth OMIM:176670 LMNA 4000 HP:0000963 Thin skin OMIM:176670 LMNA 4000 HP:0001824 Weight loss OMIM:176670 LMNA 4000 HP:0000233 Thin vermilion border OMIM:176670 LMNA 4000 HP:0001510 Growth delay OMIM:176670 LMNA 4000 HP:0008572 External ear malformation OMIM:176670 LMNA 4000 HP:0000444 Convex nasal ridge OMIM:176670 LMNA 4000 HP:0004322 Short stature OMIM:176670 LMNA 4000 HP:0004349 Reduced bone mineral density OMIM:176670 LMNA 4000 HP:0000272 Malar flattening OMIM:176670 LMNA 4000 HP:0001000 Abnormality of skin pigmentation OMIM:615987 BBS10 79738 HP:0100543 Cognitive impairment OMIM:615987 BBS10 79738 HP:0000510 Retinitis pigmentosa OMIM:615987 BBS10 79738 HP:0000083 Renal insufficiency OMIM:615987 BBS10 79738 HP:0001513 Obesity OMIM:615987 BBS10 79738 HP:0010442 Polydactyly OMIM:615987 BBS10 79738 HP:0000556 Retinal dystrophy OMIM:615987 BBS10 79738 HP:0000135 Hypogonadism ORPHANET:248 WNT10A 80326 HP:0001231 Abnormality of the fingernails ORPHANET:248 WNT10A 80326 HP:0002213 Fine hair ORPHANET:248 WNT10A 80326 HP:0008388 Abnormality of the toenails ORPHANET:248 WNT10A 80326 HP:0009804 Reduced number of teeth ORPHANET:248 WNT10A 80326 HP:0006482 Abnormality of dental morphology ORPHANET:248 WNT10A 80326 HP:0006323 Premature loss of primary teeth ORPHANET:248 WNT10A 80326 HP:0001596 Alopecia ORPHANET:248 WNT10A 80326 HP:0000966 Hypohidrosis ORPHANET:248 WNT10A 80326 HP:0000958 Dry skin ORPHANET:248 EDAR 10913 HP:0001231 Abnormality of the fingernails ORPHANET:248 EDAR 10913 HP:0002213 Fine hair ORPHANET:248 EDAR 10913 HP:0008388 Abnormality of the toenails ORPHANET:248 EDAR 10913 HP:0009804 Reduced number of teeth ORPHANET:248 EDAR 10913 HP:0006482 Abnormality of dental morphology ORPHANET:248 EDAR 10913 HP:0006323 Premature loss of primary teeth ORPHANET:248 EDAR 10913 HP:0001596 Alopecia ORPHANET:248 EDAR 10913 HP:0000966 Hypohidrosis ORPHANET:248 EDAR 10913 HP:0000958 Dry skin ORPHANET:248 EDARADD 128178 HP:0001231 Abnormality of the fingernails ORPHANET:248 EDARADD 128178 HP:0002213 Fine hair ORPHANET:248 EDARADD 128178 HP:0008388 Abnormality of the toenails ORPHANET:248 EDARADD 128178 HP:0009804 Reduced number of teeth ORPHANET:248 EDARADD 128178 HP:0006482 Abnormality of dental morphology ORPHANET:248 EDARADD 128178 HP:0006323 Premature loss of primary teeth ORPHANET:248 EDARADD 128178 HP:0001596 Alopecia ORPHANET:248 EDARADD 128178 HP:0000966 Hypohidrosis ORPHANET:248 EDARADD 128178 HP:0000958 Dry skin OMIM:615952 STAT3 6774 HP:0001369 Arthritis OMIM:615952 STAT3 6774 HP:0004322 Short stature OMIM:615952 STAT3 6774 HP:0000964 Eczema OMIM:615952 STAT3 6774 HP:0000823 Delayed puberty OMIM:615952 STAT3 6774 HP:0000164 Abnormality of the teeth OMIM:615952 STAT3 6774 HP:0002719 Recurrent infections OMIM:615952 STAT3 6774 HP:0002960 Autoimmunity OMIM:615952 STAT3 6774 HP:0002608 Celiac disease OMIM:615952 STAT3 6774 HP:0000821 Hypothyroidism OMIM:615952 STAT3 6774 HP:0006515 Interstitial pneumonitis OMIM:604563 SBF2 81846 HP:0003621 Juvenile onset OMIM:604563 SBF2 81846 HP:0001761 Pes cavus OMIM:604563 SBF2 81846 HP:0003431 Decreased motor nerve conduction velocity OMIM:604563 SBF2 81846 HP:0003693 Distal amyotrophy OMIM:604563 SBF2 81846 HP:0002936 Distal sensory impairment OMIM:604563 SBF2 81846 HP:0001178 Ulnar claw OMIM:604563 SBF2 81846 HP:0000007 Autosomal recessive inheritance OMIM:604563 SBF2 81846 HP:0001265 Hyporeflexia OMIM:604563 SBF2 81846 HP:0001765 Hammertoe OMIM:604563 SBF2 81846 HP:0001284 Areflexia OMIM:604563 SBF2 81846 HP:0002460 Distal muscle weakness OMIM:604563 SBF2 81846 HP:0003376 Steppage gait OMIM:604563 SBF2 81846 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:604563 SBF2 81846 HP:0000501 Glaucoma OMIM:604563 SBF2 81846 HP:0001762 Talipes equinovarus OMIM:604563 SBF2 81846 HP:0009027 Foot dorsiflexor weakness OMIM:604563 SBF2 81846 HP:0002355 Difficulty walking OMIM:604563 SBF2 81846 HP:0003383 Onion bulb formation OMIM:604563 SBF2 81846 HP:0000407 Sensorineural hearing impairment OMIM:604563 SBF2 81846 HP:0003481 Segmental peripheral demyelination/remyelination OMIM:604563 SBF2 81846 HP:0002751 Kyphoscoliosis OMIM:614498 BRAT1 221927 HP:0003487 Babinski sign OMIM:614498 BRAT1 221927 HP:0000007 Autosomal recessive inheritance OMIM:614498 BRAT1 221927 HP:0002169 Clonus OMIM:614498 BRAT1 221927 HP:0002529 Neuronal loss in central nervous system OMIM:614498 BRAT1 221927 HP:0001276 Hypertonia OMIM:614498 BRAT1 221927 HP:0001662 Bradycardia OMIM:614498 BRAT1 221927 HP:0002459 Dysautonomia OMIM:614498 BRAT1 221927 HP:0001371 Flexion contracture OMIM:614498 BRAT1 221927 HP:0012448 Delayed myelination OMIM:614498 BRAT1 221927 HP:0002171 Gliosis OMIM:614498 BRAT1 221927 HP:0000347 Micrognathia OMIM:614498 BRAT1 221927 HP:0002063 Rigidity OMIM:614498 BRAT1 221927 HP:0002104 Apnea OMIM:614498 BRAT1 221927 HP:0002123 Generalized myoclonic seizures OMIM:614498 BRAT1 221927 HP:0003739 Myoclonic spasms OMIM:614498 BRAT1 221927 HP:0000252 Microcephaly OMIM:614498 BRAT1 221927 HP:0000648 Optic atrophy OMIM:614498 BRAT1 221927 HP:0001263 Global developmental delay OMIM:226200 TMPRSS15 5651 HP:0007609 Hypoproteinemic edema OMIM:226200 TMPRSS15 5651 HP:0002014 Diarrhea OMIM:226200 TMPRSS15 5651 HP:0003075 Hypoproteinemia OMIM:226200 TMPRSS15 5651 HP:0000007 Autosomal recessive inheritance OMIM:226200 TMPRSS15 5651 HP:0001508 Failure to thrive OMIM:614699 CR2 1380 HP:0002028 Chronic diarrhea OMIM:614699 CR2 1380 HP:0000007 Autosomal recessive inheritance OMIM:614699 CR2 1380 HP:0002720 IgA deficiency OMIM:614699 CR2 1380 HP:0002721 Immunodeficiency OMIM:614699 CR2 1380 HP:0002205 Recurrent respiratory infections OMIM:613270 ZEB1 6935 HP:0001131 Corneal dystrophy OMIM:300867 KDM6A 7403 HP:0000252 Microcephaly OMIM:300867 KDM6A 7403 HP:0001680 Coarctation of aorta OMIM:300867 KDM6A 7403 HP:0001156 Brachydactyly syndrome OMIM:300867 KDM6A 7403 HP:0008872 Feeding difficulties in infancy OMIM:300867 KDM6A 7403 HP:0004325 Decreased body weight OMIM:300867 KDM6A 7403 HP:0000769 Abnormality of the breast OMIM:300867 KDM6A 7403 HP:0001998 Neonatal hypoglycemia OMIM:300867 KDM6A 7403 HP:0000668 Hypodontia OMIM:300867 KDM6A 7403 HP:0001007 Hirsutism OMIM:300867 KDM6A 7403 HP:0001263 Global developmental delay OMIM:300867 KDM6A 7403 HP:0000695 Natal tooth OMIM:300867 KDM6A 7403 HP:0000708 Behavioral abnormality OMIM:300867 KDM6A 7403 HP:0000437 Depressed nasal tip OMIM:300867 KDM6A 7403 HP:0001631 Defect in the atrial septum OMIM:300867 KDM6A 7403 HP:0000637 Long palpebral fissure OMIM:300867 KDM6A 7403 HP:0001423 X-linked dominant inheritance OMIM:300867 KDM6A 7403 HP:0000527 Long eyelashes OMIM:300867 KDM6A 7403 HP:0002553 Highly arched eyebrow OMIM:300867 KDM6A 7403 HP:0004322 Short stature OMIM:300867 KDM6A 7403 HP:0007655 Eversion of lateral third of lower eyelids OMIM:300867 KDM6A 7403 HP:0001250 Seizures OMIM:300867 KDM6A 7403 HP:0001642 Pulmonic stenosis OMIM:300867 KDM6A 7403 HP:0000175 Cleft palate OMIM:300867 KDM6A 7403 HP:0002761 Generalized joint laxity OMIM:300867 KDM6A 7403 HP:0006695 Atrioventricular canal defect OMIM:300867 KDM6A 7403 HP:0002000 Short columella OMIM:300867 KDM6A 7403 HP:0000455 Broad nasal tip OMIM:300867 KDM6A 7403 HP:0001252 Muscular hypotonia OMIM:300867 KDM6A 7403 HP:0000411 Protruding ear OMIM:300867 KDM6A 7403 HP:0000378 Cupped ear OMIM:300867 KDM6A 7403 HP:0011398 Central hypotonia OMIM:300867 KDM6A 7403 HP:0000218 High palate OMIM:300867 KDM6A 7403 HP:0001212 Prominent fingertip pads OMIM:300867 KDM6A 7403 HP:0005338 Sparse lateral eyebrow OMIM:300867 KDM6A 7403 HP:0000689 Dental malocclusion OMIM:300867 KDM6A 7403 HP:0000486 Strabismus OMIM:130000 COL5A2 1290 HP:0000963 Thin skin OMIM:130000 COL5A2 1290 HP:0001382 Joint hypermobility OMIM:130000 COL5A2 1290 HP:0000163 Abnormality of the oral cavity OMIM:130000 COL5A2 1290 HP:0005100 Premature birth following premature rupture of fetal membranes OMIM:130000 COL5A2 1290 HP:0002650 Scoliosis OMIM:130000 COL5A2 1290 HP:0001763 Pes planus OMIM:130000 COL5A2 1290 HP:0000776 Congenital diaphragmatic hernia OMIM:130000 COL5A2 1290 HP:0000592 Blue sclerae OMIM:130000 COL5A2 1290 HP:0002758 Osteoarthritis OMIM:130000 COL5A2 1290 HP:0001634 Mitral valve prolapse OMIM:130000 COL5A2 1290 HP:0002816 Genu recurvatum OMIM:130000 COL5A2 1290 HP:0001373 Joint dislocation OMIM:130000 COL5A2 1290 HP:0002586 Peritonitis OMIM:130000 COL5A2 1290 HP:0000977 Soft skin OMIM:130000 COL5A2 1290 HP:0006316 Irregularly spaced teeth OMIM:130000 COL5A2 1290 HP:0000978 Bruising susceptibility OMIM:130000 COL5A2 1290 HP:0001537 Umbilical hernia OMIM:130000 COL5A2 1290 HP:0000010 Recurrent urinary tract infections OMIM:130000 COL5A2 1290 HP:0000541 Retinal detachment OMIM:130000 COL5A2 1290 HP:0000545 Myopia OMIM:130000 COL5A2 1290 HP:0000993 Molluscoid pseudotumors OMIM:130000 COL5A2 1290 HP:0008947 Infantile muscular hypotonia OMIM:130000 COL5A2 1290 HP:0008069 Neoplasm of the skin OMIM:130000 COL5A2 1290 HP:0000767 Pectus excavatum OMIM:130000 COL5A2 1290 HP:0000768 Pectus carinatum OMIM:130000 COL5A2 1290 HP:0000023 Inguinal hernia OMIM:130000 COL5A2 1290 HP:0000822 Hypertension OMIM:130000 COL5A2 1290 HP:0000394 Lop ear OMIM:130000 COL5A2 1290 HP:0005293 Venous insufficiency OMIM:130000 COL5A2 1290 HP:0002616 Aortic root dilatation OMIM:130000 COL5A2 1290 HP:0001073 Cigarette-paper scars OMIM:130000 COL5A2 1290 HP:0001030 Fragile skin OMIM:130000 COL5A2 1290 HP:0002647 Aortic dissection OMIM:130000 COL5A2 1290 HP:0005222 Bowel diverticulosis OMIM:130000 COL5A2 1290 HP:0000006 Autosomal dominant inheritance OMIM:130000 COL5A2 1290 HP:0001058 Poor wound healing OMIM:130000 COL5A2 1290 HP:0002010 Narrow maxilla OMIM:130000 COL5A2 1290 HP:0001822 Hallux valgus OMIM:130000 COL5A2 1290 HP:0001633 Abnormality of the mitral valve OMIM:130000 COL5A2 1290 HP:0000286 Epicanthus OMIM:130000 COL5A2 1290 HP:0004322 Short stature OMIM:130000 COL5A2 1290 HP:0000015 Bladder diverticulum OMIM:130000 COL5A2 1290 HP:0001724 Aortic dilatation OMIM:130000 COL5A2 1290 HP:0001083 Ectopia lentis OMIM:130000 COL5A1 1289 HP:0000963 Thin skin OMIM:130000 COL5A1 1289 HP:0001382 Joint hypermobility OMIM:130000 COL5A1 1289 HP:0000163 Abnormality of the oral cavity OMIM:130000 COL5A1 1289 HP:0005100 Premature birth following premature rupture of fetal membranes OMIM:130000 COL5A1 1289 HP:0002650 Scoliosis OMIM:130000 COL5A1 1289 HP:0001763 Pes planus OMIM:130000 COL5A1 1289 HP:0000776 Congenital diaphragmatic hernia OMIM:130000 COL5A1 1289 HP:0000592 Blue sclerae OMIM:130000 COL5A1 1289 HP:0002758 Osteoarthritis OMIM:130000 COL5A1 1289 HP:0001634 Mitral valve prolapse OMIM:130000 COL5A1 1289 HP:0002816 Genu recurvatum OMIM:130000 COL5A1 1289 HP:0001373 Joint dislocation OMIM:130000 COL5A1 1289 HP:0002586 Peritonitis OMIM:130000 COL5A1 1289 HP:0000977 Soft skin OMIM:130000 COL5A1 1289 HP:0006316 Irregularly spaced teeth OMIM:130000 COL5A1 1289 HP:0000978 Bruising susceptibility OMIM:130000 COL5A1 1289 HP:0001537 Umbilical hernia OMIM:130000 COL5A1 1289 HP:0000010 Recurrent urinary tract infections OMIM:130000 COL5A1 1289 HP:0000541 Retinal detachment OMIM:130000 COL5A1 1289 HP:0000545 Myopia OMIM:130000 COL5A1 1289 HP:0000993 Molluscoid pseudotumors OMIM:130000 COL5A1 1289 HP:0008947 Infantile muscular hypotonia OMIM:130000 COL5A1 1289 HP:0008069 Neoplasm of the skin OMIM:130000 COL5A1 1289 HP:0000767 Pectus excavatum OMIM:130000 COL5A1 1289 HP:0000768 Pectus carinatum OMIM:130000 COL5A1 1289 HP:0000023 Inguinal hernia OMIM:130000 COL5A1 1289 HP:0000822 Hypertension OMIM:130000 COL5A1 1289 HP:0000394 Lop ear OMIM:130000 COL5A1 1289 HP:0005293 Venous insufficiency OMIM:130000 COL5A1 1289 HP:0002616 Aortic root dilatation OMIM:130000 COL5A1 1289 HP:0001073 Cigarette-paper scars OMIM:130000 COL5A1 1289 HP:0001030 Fragile skin OMIM:130000 COL5A1 1289 HP:0002647 Aortic dissection OMIM:130000 COL5A1 1289 HP:0005222 Bowel diverticulosis OMIM:130000 COL5A1 1289 HP:0000006 Autosomal dominant inheritance OMIM:130000 COL5A1 1289 HP:0001058 Poor wound healing OMIM:130000 COL5A1 1289 HP:0002010 Narrow maxilla OMIM:130000 COL5A1 1289 HP:0001822 Hallux valgus OMIM:130000 COL5A1 1289 HP:0001633 Abnormality of the mitral valve OMIM:130000 COL5A1 1289 HP:0000286 Epicanthus OMIM:130000 COL5A1 1289 HP:0004322 Short stature OMIM:130000 COL5A1 1289 HP:0000015 Bladder diverticulum OMIM:130000 COL5A1 1289 HP:0001724 Aortic dilatation OMIM:130000 COL5A1 1289 HP:0001083 Ectopia lentis OMIM:130000 COL1A1 1277 HP:0000963 Thin skin OMIM:130000 COL1A1 1277 HP:0001382 Joint hypermobility OMIM:130000 COL1A1 1277 HP:0000163 Abnormality of the oral cavity OMIM:130000 COL1A1 1277 HP:0005100 Premature birth following premature rupture of fetal membranes OMIM:130000 COL1A1 1277 HP:0002650 Scoliosis OMIM:130000 COL1A1 1277 HP:0001763 Pes planus OMIM:130000 COL1A1 1277 HP:0000776 Congenital diaphragmatic hernia OMIM:130000 COL1A1 1277 HP:0000592 Blue sclerae OMIM:130000 COL1A1 1277 HP:0002758 Osteoarthritis OMIM:130000 COL1A1 1277 HP:0001634 Mitral valve prolapse OMIM:130000 COL1A1 1277 HP:0002816 Genu recurvatum OMIM:130000 COL1A1 1277 HP:0001373 Joint dislocation OMIM:130000 COL1A1 1277 HP:0002586 Peritonitis OMIM:130000 COL1A1 1277 HP:0000977 Soft skin OMIM:130000 COL1A1 1277 HP:0006316 Irregularly spaced teeth OMIM:130000 COL1A1 1277 HP:0000978 Bruising susceptibility OMIM:130000 COL1A1 1277 HP:0001537 Umbilical hernia OMIM:130000 COL1A1 1277 HP:0000010 Recurrent urinary tract infections OMIM:130000 COL1A1 1277 HP:0000541 Retinal detachment OMIM:130000 COL1A1 1277 HP:0000545 Myopia OMIM:130000 COL1A1 1277 HP:0000993 Molluscoid pseudotumors OMIM:130000 COL1A1 1277 HP:0008947 Infantile muscular hypotonia OMIM:130000 COL1A1 1277 HP:0008069 Neoplasm of the skin OMIM:130000 COL1A1 1277 HP:0000767 Pectus excavatum OMIM:130000 COL1A1 1277 HP:0000768 Pectus carinatum OMIM:130000 COL1A1 1277 HP:0000023 Inguinal hernia OMIM:130000 COL1A1 1277 HP:0000822 Hypertension OMIM:130000 COL1A1 1277 HP:0000394 Lop ear OMIM:130000 COL1A1 1277 HP:0005293 Venous insufficiency OMIM:130000 COL1A1 1277 HP:0002616 Aortic root dilatation OMIM:130000 COL1A1 1277 HP:0001073 Cigarette-paper scars OMIM:130000 COL1A1 1277 HP:0001030 Fragile skin OMIM:130000 COL1A1 1277 HP:0002647 Aortic dissection OMIM:130000 COL1A1 1277 HP:0005222 Bowel diverticulosis OMIM:130000 COL1A1 1277 HP:0000006 Autosomal dominant inheritance OMIM:130000 COL1A1 1277 HP:0001058 Poor wound healing OMIM:130000 COL1A1 1277 HP:0002010 Narrow maxilla OMIM:130000 COL1A1 1277 HP:0001822 Hallux valgus OMIM:130000 COL1A1 1277 HP:0001633 Abnormality of the mitral valve OMIM:130000 COL1A1 1277 HP:0000286 Epicanthus OMIM:130000 COL1A1 1277 HP:0004322 Short stature OMIM:130000 COL1A1 1277 HP:0000015 Bladder diverticulum OMIM:130000 COL1A1 1277 HP:0001724 Aortic dilatation OMIM:130000 COL1A1 1277 HP:0001083 Ectopia lentis OMIM:308300 IKBKG 8517 HP:0000684 Delayed eruption of teeth OMIM:308300 IKBKG 8517 HP:0000568 Microphthalmos OMIM:308300 IKBKG 8517 HP:0008388 Abnormality of the toenails OMIM:308300 IKBKG 8517 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:308300 IKBKG 8517 HP:0008046 Abnormality of the retinal vasculature OMIM:308300 IKBKG 8517 HP:0100783 Breast aplasia OMIM:308300 IKBKG 8517 HP:0001635 Congestive heart failure OMIM:308300 IKBKG 8517 HP:0000988 Skin rash OMIM:308300 IKBKG 8517 HP:0000554 Uveitis OMIM:308300 IKBKG 8517 HP:0001880 Eosinophilia OMIM:308300 IKBKG 8517 HP:0007850 Retinal vascular proliferation OMIM:308300 IKBKG 8517 HP:0001807 Ridged nail OMIM:308300 IKBKG 8517 HP:0200043 Verrucae OMIM:308300 IKBKG 8517 HP:0006482 Abnormality of dental morphology OMIM:308300 IKBKG 8517 HP:0100555 Asymmetric growth OMIM:308300 IKBKG 8517 HP:0001249 Intellectual disability OMIM:308300 IKBKG 8517 HP:0001803 Nail pits OMIM:308300 IKBKG 8517 HP:0200042 Skin ulcer OMIM:308300 IKBKG 8517 HP:0002120 Cerebral cortical atrophy OMIM:308300 IKBKG 8517 HP:0007018 Attention deficit hyperactivity disorder OMIM:308300 IKBKG 8517 HP:0002797 Osteolysis OMIM:308300 IKBKG 8517 HP:0000518 Cataract OMIM:308300 IKBKG 8517 HP:0008404 Nail dystrophy OMIM:308300 IKBKG 8517 HP:0001276 Hypertonia OMIM:308300 IKBKG 8517 HP:0100585 Teleangiectasia of the skin OMIM:308300 IKBKG 8517 HP:0001250 Seizures OMIM:308300 IKBKG 8517 HP:0002213 Fine hair OMIM:308300 IKBKG 8517 HP:0002092 Pulmonary hypertension OMIM:308300 IKBKG 8517 HP:0000491 Keratitis OMIM:308300 IKBKG 8517 HP:0007400 Irregular hyperpigmentation OMIM:308300 IKBKG 8517 HP:0004322 Short stature OMIM:308300 IKBKG 8517 HP:0002558 Supernumerary nipple OMIM:308300 IKBKG 8517 HP:0001805 Thick nail OMIM:308300 IKBKG 8517 HP:0005815 Supernumerary ribs OMIM:308300 IKBKG 8517 HP:0002751 Kyphoscoliosis OMIM:308300 IKBKG 8517 HP:0003298 Spina bifida occulta OMIM:308300 IKBKG 8517 HP:0001257 Spasticity OMIM:308300 IKBKG 8517 HP:0002557 Hypoplastic nipples OMIM:308300 IKBKG 8517 HP:0004529 Atrophic, patchy alopecia OMIM:308300 IKBKG 8517 HP:0002383 Encephalitis OMIM:308300 IKBKG 8517 HP:0010783 Erythema OMIM:308300 IKBKG 8517 HP:0100543 Cognitive impairment OMIM:308300 IKBKG 8517 HP:0008066 Abnormal blistering of the skin OMIM:308300 IKBKG 8517 HP:0001053 Hypopigmented skin patches OMIM:308300 IKBKG 8517 HP:0001596 Alopecia OMIM:308300 IKBKG 8517 HP:0002208 Coarse hair OMIM:308300 IKBKG 8517 HP:0000486 Strabismus OMIM:308300 IKBKG 8517 HP:0001000 Abnormality of skin pigmentation OMIM:308300 IKBKG 8517 HP:0001252 Muscular hypotonia OMIM:308300 IKBKG 8517 HP:0001798 Anonychia OMIM:308300 IKBKG 8517 HP:0001231 Abnormality of the fingernails OMIM:308300 IKBKG 8517 HP:0002637 Cerebral ischemia OMIM:308300 IKBKG 8517 HP:0001288 Gait disturbance OMIM:308300 IKBKG 8517 HP:0000252 Microcephaly OMIM:308300 IKBKG 8517 HP:0008070 Sparse hair OMIM:308300 IKBKG 8517 HP:0000668 Hypodontia OMIM:308300 IKBKG 8517 HP:0000962 Hyperkeratosis OMIM:308300 IKBKG 8517 HP:0000592 Blue sclerae OMIM:308300 IKBKG 8517 HP:0006101 Finger syndactyly OMIM:308300 IKBKG 8517 HP:0009804 Reduced number of teeth OMIM:308300 IKBKG 8517 HP:0002650 Scoliosis OMIM:308300 IKBKG 8517 HP:0000505 Visual impairment OMIM:308300 IKBKG 8517 HP:0000648 Optic atrophy OMIM:308300 IKBKG 8517 HP:0004374 Hemiplegia/hemiparesis OMIM:308300 IKBKG 8517 HP:0000541 Retinal detachment OMIM:308300 IKBKG 8517 HP:0004097 Deviation of finger OMIM:308300 IKBKG 8517 HP:0100533 Inflammatory abnormality of the eye OMIM:308300 IKBKG 8517 HP:0002164 Nail dysplasia OMIM:308300 IKBKG 8517 HP:0004050 Absent hand OMIM:308300 IKBKG 8517 HP:0007759 Opacification of the corneal stroma OMIM:308300 IKBKG 8517 HP:0001423 X-linked dominant inheritance OMIM:308300 IKBKG 8517 HP:0002937 Hemivertebrae OMIM:308300 IKBKG 8517 HP:0001537 Umbilical hernia OMIM:308300 IKBKG 8517 HP:0010978 Abnormality of immune system physiology OMIM:308300 IKBKG 8517 HP:0100699 Scarring OMIM:308300 IKBKG 8517 HP:0003187 Breast hypoplasia OMIM:308300 IKBKG 8517 HP:0000364 Hearing abnormality OMIM:308300 IKBKG 8517 HP:0000682 Abnormality of dental enamel OMIM:308300 IKBKG 8517 HP:0100490 Camptodactyly of finger OMIM:308300 IKBKG 8517 HP:0000975 Hyperhidrosis OMIM:308300 IKBKG 8517 HP:0000772 Abnormality of the ribs OMIM:308300 IKBKG 8517 HP:0000573 Retinal hemorrhage OMIM:308300 IKBKG 8517 HP:0000202 Oral cleft OMIM:310300 EMD 2010 HP:0001678 Atrioventricular block OMIM:310300 EMD 2010 HP:0000767 Pectus excavatum OMIM:310300 EMD 2010 HP:0001645 Sudden cardiac death OMIM:310300 EMD 2010 HP:0001692 Primary atrial arrhythmia OMIM:310300 EMD 2010 HP:0004631 Decreased cervical spine flexion due to contractures of posterior cervical muscles OMIM:310300 EMD 2010 HP:0003236 Elevated serum creatine phosphokinase OMIM:310300 EMD 2010 HP:0011463 Childhood onset OMIM:310300 EMD 2010 HP:0003677 Slow progression OMIM:310300 EMD 2010 HP:0011807 Type 1 muscle fiber atrophy OMIM:310300 EMD 2010 HP:0002987 Elbow flexion contracture OMIM:310300 EMD 2010 HP:0001771 Achilles tendon contracture OMIM:310300 EMD 2010 HP:0001419 X-linked recessive inheritance OMIM:310300 EMD 2010 HP:0000464 Abnormality of the neck OMIM:310300 EMD 2010 HP:0003621 Juvenile onset OMIM:310300 EMD 2010 HP:0002515 Waddling gait ORPHANET:2024 SOS1 6654 HP:0000212 Gingival overgrowth OMIM:610427 CABP4 57010 HP:0000486 Strabismus OMIM:610427 CABP4 57010 HP:0000551 Abnormality of color vision OMIM:610427 CABP4 57010 HP:0000007 Autosomal recessive inheritance OMIM:610427 CABP4 57010 HP:0000613 Photophobia OMIM:610427 CABP4 57010 HP:0007984 Reduced amplitude of b-wave (ERG) OMIM:610427 CABP4 57010 HP:0007642 Congenital stationary night blindness OMIM:610427 CABP4 57010 HP:0000505 Visual impairment OMIM:610427 CABP4 57010 HP:0000639 Nystagmus OMIM:309500 PQBP1 10084 HP:0001741 Phimosis OMIM:309500 PQBP1 10084 HP:0004209 Clinodactyly of the 5th finger OMIM:309500 PQBP1 10084 HP:0000286 Epicanthus OMIM:309500 PQBP1 10084 HP:0001419 X-linked recessive inheritance OMIM:309500 PQBP1 10084 HP:0002650 Scoliosis OMIM:309500 PQBP1 10084 HP:0000322 Short philtrum OMIM:309500 PQBP1 10084 HP:0000589 Coloboma OMIM:309500 PQBP1 10084 HP:0000912 Sprengel anomaly OMIM:309500 PQBP1 10084 HP:0012385 Camptodactyly OMIM:309500 PQBP1 10084 HP:0001347 Hyperreflexia OMIM:309500 PQBP1 10084 HP:0000819 Diabetes mellitus OMIM:309500 PQBP1 10084 HP:0001786 Narrow foot OMIM:309500 PQBP1 10084 HP:0002059 Cerebral atrophy OMIM:309500 PQBP1 10084 HP:0008070 Sparse hair OMIM:309500 PQBP1 10084 HP:0005105 Abnormal nasal morphology OMIM:309500 PQBP1 10084 HP:0001611 Nasal speech OMIM:309500 PQBP1 10084 HP:0001376 Limitation of joint mobility OMIM:309500 PQBP1 10084 HP:0100589 Urogenital fistula OMIM:309500 PQBP1 10084 HP:0001631 Defect in the atrial septum OMIM:309500 PQBP1 10084 HP:0000276 Long face OMIM:309500 PQBP1 10084 HP:0000160 Narrow mouth OMIM:309500 PQBP1 10084 HP:0000325 Triangular face OMIM:309500 PQBP1 10084 HP:0000047 Hypospadias OMIM:309500 PQBP1 10084 HP:0000175 Cleft palate OMIM:309500 PQBP1 10084 HP:0004322 Short stature OMIM:309500 PQBP1 10084 HP:0005338 Sparse lateral eyebrow OMIM:309500 PQBP1 10084 HP:0000378 Cupped ear OMIM:309500 PQBP1 10084 HP:0001257 Spasticity OMIM:309500 PQBP1 10084 HP:0000400 Macrotia OMIM:309500 PQBP1 10084 HP:0001276 Hypertonia OMIM:309500 PQBP1 10084 HP:0010719 Abnormality of hair texture OMIM:309500 PQBP1 10084 HP:0000089 Renal hypoplasia OMIM:309500 PQBP1 10084 HP:0000365 Hearing impairment OMIM:309500 PQBP1 10084 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:309500 PQBP1 10084 HP:0000414 Bulbous nose OMIM:309500 PQBP1 10084 HP:0000218 High palate OMIM:309500 PQBP1 10084 HP:0000272 Malar flattening OMIM:309500 PQBP1 10084 HP:0000540 Hypermetropia OMIM:309500 PQBP1 10084 HP:0000486 Strabismus OMIM:309500 PQBP1 10084 HP:0002033 Poor suck OMIM:309500 PQBP1 10084 HP:0000767 Pectus excavatum OMIM:309500 PQBP1 10084 HP:0000612 Iris coloboma OMIM:309500 PQBP1 10084 HP:0001250 Seizures OMIM:309500 PQBP1 10084 HP:0009473 Joint contracture of the hand OMIM:309500 PQBP1 10084 HP:0000248 Brachycephaly OMIM:309500 PQBP1 10084 HP:0001249 Intellectual disability OMIM:309500 PQBP1 10084 HP:0000347 Micrognathia OMIM:309500 PQBP1 10084 HP:0100627 Displacement of the external urethral meatus OMIM:309500 PQBP1 10084 HP:0000568 Microphthalmos OMIM:309500 PQBP1 10084 HP:0000252 Microcephaly OMIM:309500 PQBP1 10084 HP:0008734 Decreased testicular size OMIM:309500 PQBP1 10084 HP:0000582 Upslanted palpebral fissure OMIM:309500 PQBP1 10084 HP:0000431 Wide nasal bridge OMIM:309500 PQBP1 10084 HP:0100543 Cognitive impairment OMIM:309500 PQBP1 10084 HP:0000618 Blindness OMIM:309500 PQBP1 10084 HP:0000303 Mandibular prognathia OMIM:309500 PQBP1 10084 HP:0000518 Cataract OMIM:309500 PQBP1 10084 HP:0001761 Pes cavus OMIM:309500 PQBP1 10084 HP:0003202 Skeletal muscle atrophy OMIM:309500 PQBP1 10084 HP:0010669 Cheekbone underdevelopment OMIM:309500 PQBP1 10084 HP:0002648 Abnormality of calvarial morphology OMIM:309500 PQBP1 10084 HP:0000219 Thin upper lip vermilion OMIM:309500 PQBP1 10084 HP:0001696 Situs inversus totalis OMIM:309500 PQBP1 10084 HP:0000407 Sensorineural hearing impairment OMIM:309500 PQBP1 10084 HP:0011362 Abnormal hair quantity OMIM:309500 PQBP1 10084 HP:0000035 Abnormality of the testis OMIM:309500 PQBP1 10084 HP:0000275 Narrow face OMIM:309500 PQBP1 10084 HP:0002023 Anal atresia OMIM:309500 PQBP1 10084 HP:0001629 Ventricular septal defect OMIM:309500 PQBP1 10084 HP:0001547 Abnormality of the rib cage OMIM:309500 PQBP1 10084 HP:0004325 Decreased body weight OMIM:309500 PQBP1 10084 HP:0001172 Abnormality of the thumb OMIM:309500 PQBP1 10084 HP:0010761 Broad columella OMIM:309500 PQBP1 10084 HP:0000739 Anxiety OMIM:309500 PQBP1 10084 HP:0003363 Abdominal situs inversus OMIM:309500 PQBP1 10084 HP:0100830 Round ear OMIM:309500 PQBP1 10084 HP:0001572 Macrodontia OMIM:309500 PQBP1 10084 HP:0000411 Protruding ear OMIM:309500 PQBP1 10084 HP:0001636 Tetralogy of Fallot OMIM:257200 SMPD1 6609 HP:0006579 Prolonged neonatal jaundice OMIM:257200 SMPD1 6609 HP:0004333 Bone-marrow foam cells OMIM:257200 SMPD1 6609 HP:0001324 Muscle weakness OMIM:257200 SMPD1 6609 HP:0001263 Global developmental delay OMIM:257200 SMPD1 6609 HP:0002240 Hepatomegaly OMIM:257200 SMPD1 6609 HP:0001508 Failure to thrive OMIM:257200 SMPD1 6609 HP:0003609 Foam cells with lamellar inclusion bodies OMIM:257200 SMPD1 6609 HP:0001252 Muscular hypotonia OMIM:257200 SMPD1 6609 HP:0001249 Intellectual disability OMIM:257200 SMPD1 6609 HP:0002019 Constipation OMIM:257200 SMPD1 6609 HP:0008872 Feeding difficulties in infancy OMIM:257200 SMPD1 6609 HP:0001265 Hyporeflexia OMIM:257200 SMPD1 6609 HP:0002207 Diffuse reticular or finely nodular infiltrations OMIM:257200 SMPD1 6609 HP:0001744 Splenomegaly OMIM:257200 SMPD1 6609 HP:0002716 Lymphadenopathy OMIM:257200 SMPD1 6609 HP:0000007 Autosomal recessive inheritance OMIM:257200 SMPD1 6609 HP:0004322 Short stature OMIM:257200 SMPD1 6609 HP:0002205 Recurrent respiratory infections OMIM:257200 SMPD1 6609 HP:0002013 Vomiting OMIM:257200 SMPD1 6609 HP:0003593 Infantile onset OMIM:257200 SMPD1 6609 HP:0002305 Athetosis OMIM:257200 SMPD1 6609 HP:0001538 Protuberant abdomen OMIM:257200 SMPD1 6609 HP:0001935 Microcytic anemia OMIM:257200 SMPD1 6609 HP:0001982 Sea-blue histiocytosis OMIM:257200 SMPD1 6609 HP:0002063 Rigidity OMIM:257200 SMPD1 6609 HP:0000939 Osteoporosis OMIM:257200 SMPD1 6609 HP:0001257 Spasticity OMIM:257200 SMPD1 6609 HP:0000991 Xanthomatosis OMIM:257200 SMPD1 6609 HP:0010729 Cherry red spot of the macula OMIM:309801 HCCS 3052 HP:0007398 Asymmetric, linear skin defects OMIM:309801 HCCS 3052 HP:0001545 Anteriorly placed anus OMIM:309801 HCCS 3052 HP:0000518 Cataract OMIM:309801 HCCS 3052 HP:0000776 Congenital diaphragmatic hernia OMIM:309801 HCCS 3052 HP:0000580 Pigmentary retinopathy OMIM:309801 HCCS 3052 HP:0000047 Hypospadias OMIM:309801 HCCS 3052 HP:0002023 Anal atresia OMIM:309801 HCCS 3052 HP:0030048 Colpocephaly OMIM:309801 HCCS 3052 HP:0000041 Chordee OMIM:309801 HCCS 3052 HP:0001939 Abnormality of metabolism/homeostasis OMIM:309801 HCCS 3052 HP:0000252 Microcephaly OMIM:309801 HCCS 3052 HP:0008665 Clitoral hypertrophy OMIM:309801 HCCS 3052 HP:0001423 X-linked dominant inheritance OMIM:309801 HCCS 3052 HP:0001274 Agenesis of corpus callosum OMIM:309801 HCCS 3052 HP:0000013 Hypoplasia of the uterus OMIM:309801 HCCS 3052 HP:0001250 Seizures OMIM:309801 HCCS 3052 HP:0011675 Arrhythmia OMIM:309801 HCCS 3052 HP:0000054 Micropenis OMIM:309801 HCCS 3052 HP:0012861 Ovotestis OMIM:309801 HCCS 3052 HP:0006887 Intellectual disability, progressive OMIM:309801 HCCS 3052 HP:0002623 Overriding aorta OMIM:309801 HCCS 3052 HP:0001631 Defect in the atrial septum OMIM:309801 HCCS 3052 HP:0000365 Hearing impairment OMIM:309801 HCCS 3052 HP:0000238 Hydrocephalus OMIM:309801 HCCS 3052 HP:0001629 Ventricular septal defect OMIM:309801 HCCS 3052 HP:0000647 Sclerocornea OMIM:309801 HCCS 3052 HP:0005152 Oncocytic cardiomyopathy OMIM:309801 HCCS 3052 HP:0004322 Short stature OMIM:309801 HCCS 3052 HP:0000568 Microphthalmos OMIM:309801 HCCS 3052 HP:0001331 Absent septum pellucidum OMIM:309801 HCCS 3052 HP:0000612 Iris coloboma OMIM:612999 SYNE2 23224 HP:0003812 Phenotypic variability OMIM:612999 SYNE2 23224 HP:0011675 Arrhythmia OMIM:612999 SYNE2 23224 HP:0001638 Cardiomyopathy OMIM:612999 SYNE2 23224 HP:0000006 Autosomal dominant inheritance OMIM:612999 SYNE2 23224 HP:0003560 Muscular dystrophy OMIM:612999 SYNE2 23224 HP:0002093 Respiratory insufficiency OMIM:612999 SYNE2 23224 HP:0003701 Proximal muscle weakness OMIM:612999 SYNE2 23224 HP:0007126 Proximal amyotrophy OMIM:612999 SYNE2 23224 HP:0003236 Elevated serum creatine phosphokinase OMIM:612999 SYNE2 23224 HP:0011463 Childhood onset OMIM:166200 COL1A1 1277 HP:0000006 Autosomal dominant inheritance OMIM:166200 COL1A1 1277 HP:0000592 Blue sclerae OMIM:166200 COL1A1 1277 HP:0002645 Wormian bones OMIM:166200 COL1A1 1277 HP:0000365 Hearing impairment OMIM:166200 COL1A1 1277 HP:0001634 Mitral valve prolapse OMIM:166200 COL1A1 1277 HP:0000703 Dentinogenesis imperfecta OMIM:166200 COL1A1 1277 HP:0000978 Bruising susceptibility OMIM:166200 COL1A1 1277 HP:0002659 Increased susceptibility to fractures OMIM:166200 COL1A1 1277 HP:0000362 Otosclerosis OMIM:166200 COL1A1 1277 HP:0002757 Recurrent fractures OMIM:166200 COL1A1 1277 HP:0001382 Joint hypermobility OMIM:166200 COL1A1 1277 HP:0001724 Aortic dilatation OMIM:166200 COL1A1 1277 HP:0002980 Femoral bowing OMIM:166200 COL1A1 1277 HP:0001507 Growth abnormality OMIM:166200 COL1A1 1277 HP:0000938 Osteopenia OMIM:166200 COL1A1 1277 HP:0003321 Biconcave flattened vertebrae OMIM:166200 COL1A1 1277 HP:0000963 Thin skin OMIM:141200 COL4A3 1285 HP:0000790 Hematuria OMIM:141200 COL4A3 1285 HP:0000006 Autosomal dominant inheritance OMIM:141200 COL4A3 1285 HP:0012577 Thin glomerular basement membrane OMIM:141200 COL4A3 1285 HP:0003680 Nonprogressive disorder ORPHANET:93387 HOXD13 3239 HP:0100555 Asymmetric growth ORPHANET:93387 HOXD13 3239 HP:0000256 Macrocephaly ORPHANET:93387 HOXD13 3239 HP:0002007 Frontal bossing ORPHANET:93387 HOXD13 3239 HP:0009882 Short distal phalanx of finger ORPHANET:93387 HOXD13 3239 HP:0004322 Short stature ORPHANET:93387 HOXD13 3239 HP:0001382 Joint hypermobility ORPHANET:93387 HOXD13 3239 HP:0001163 Abnormality of the metacarpal bones ORPHANET:93387 PTHLH 5744 HP:0100555 Asymmetric growth ORPHANET:93387 PTHLH 5744 HP:0000256 Macrocephaly ORPHANET:93387 PTHLH 5744 HP:0002007 Frontal bossing ORPHANET:93387 PTHLH 5744 HP:0009882 Short distal phalanx of finger ORPHANET:93387 PTHLH 5744 HP:0004322 Short stature ORPHANET:93387 PTHLH 5744 HP:0001382 Joint hypermobility ORPHANET:93387 PTHLH 5744 HP:0001163 Abnormality of the metacarpal bones ORPHANET:35069 PLA2G6 8398 HP:0000639 Nystagmus ORPHANET:35069 PLA2G6 8398 HP:0002376 Developmental regression ORPHANET:35069 PLA2G6 8398 HP:0001250 Seizures ORPHANET:35069 PLA2G6 8398 HP:0004325 Decreased body weight ORPHANET:35069 PLA2G6 8398 HP:0000648 Optic atrophy ORPHANET:35069 PLA2G6 8398 HP:0001252 Muscular hypotonia ORPHANET:35069 PLA2G6 8398 HP:0000505 Visual impairment OMIM:254110 TRIM32 22954 HP:0003457 EMG abnormality OMIM:254110 TRIM32 22954 HP:0003547 Shoulder girdle muscle weakness OMIM:254110 TRIM32 22954 HP:0001288 Gait disturbance OMIM:254110 TRIM32 22954 HP:0000007 Autosomal recessive inheritance OMIM:254110 TRIM32 22954 HP:0001284 Areflexia OMIM:254110 TRIM32 22954 HP:0003677 Slow progression OMIM:254110 TRIM32 22954 HP:0002515 Waddling gait OMIM:254110 TRIM32 22954 HP:0010628 Facial palsy OMIM:254110 TRIM32 22954 HP:0003557 Increased variability in muscle fiber diameter OMIM:254110 TRIM32 22954 HP:0003749 Pelvic girdle muscle weakness OMIM:254110 TRIM32 22954 HP:0000098 Tall stature OMIM:254110 TRIM32 22954 HP:0003724 Shoulder girdle muscle atrophy OMIM:254110 TRIM32 22954 HP:0003738 Exercise-induced myalgia OMIM:254110 TRIM32 22954 HP:0000298 Mask-like facies OMIM:254110 TRIM32 22954 HP:0003707 Calf muscle pseudohypertrophy OMIM:254110 TRIM32 22954 HP:0003236 Elevated serum creatine phosphokinase OMIM:254110 TRIM32 22954 HP:0003731 Quadriceps muscle weakness OMIM:254110 TRIM32 22954 HP:0003198 Myopathy OMIM:254110 TRIM32 22954 HP:0008988 Pelvic girdle muscle atrophy OMIM:254110 TRIM32 22954 HP:0003687 Centrally nucleated skeletal muscle fibers OMIM:254110 TRIM32 22954 HP:0003722 Neck flexor weakness OMIM:254110 TRIM32 22954 HP:0003391 Gowers sign OMIM:254110 TRIM32 22954 HP:0003812 Phenotypic variability OMIM:254110 TRIM32 22954 HP:0001265 Hyporeflexia OMIM:254110 TRIM32 22954 HP:0003560 Muscular dystrophy OMIM:254110 TRIM32 22954 HP:0003458 EMG: myopathic abnormalities OMIM:607454 TMEM240 339453 HP:0000639 Nystagmus OMIM:607454 TMEM240 339453 HP:0000718 Aggressive behavior OMIM:607454 TMEM240 339453 HP:0002066 Gait ataxia OMIM:607454 TMEM240 339453 HP:0100543 Cognitive impairment OMIM:607454 TMEM240 339453 HP:0010526 Dysgraphia OMIM:607454 TMEM240 339453 HP:0002396 Cogwheel rigidity OMIM:607454 TMEM240 339453 HP:0100710 Impulsivity OMIM:607454 TMEM240 339453 HP:0001272 Cerebellar atrophy OMIM:607454 TMEM240 339453 HP:0001260 Dysarthria OMIM:607454 TMEM240 339453 HP:0001300 Parkinsonism OMIM:607454 TMEM240 339453 HP:0003677 Slow progression OMIM:607454 TMEM240 339453 HP:0001263 Global developmental delay OMIM:607454 TMEM240 339453 HP:0001265 Hyporeflexia OMIM:607454 TMEM240 339453 HP:0002304 Akinesia OMIM:607454 TMEM240 339453 HP:0002174 Postural tremor OMIM:607454 TMEM240 339453 HP:0002073 Progressive cerebellar ataxia OMIM:607454 TMEM240 339453 HP:0000006 Autosomal dominant inheritance OMIM:607454 TMEM240 339453 HP:0007792 Microsaccadic pursuit OMIM:607454 TMEM240 339453 HP:0002168 Scanning speech OMIM:607454 TMEM240 339453 HP:0001249 Intellectual disability OMIM:607454 TMEM240 339453 HP:0000741 Apathy OMIM:607454 TMEM240 339453 HP:0000514 Slow saccadic eye movements OMIM:607454 TMEM240 339453 HP:0002070 Limb ataxia OMIM:610505 TSFM 10102 HP:0008872 Feeding difficulties in infancy OMIM:610505 TSFM 10102 HP:0001319 Neonatal hypotonia OMIM:610505 TSFM 10102 HP:0001138 Optic neuropathy OMIM:610505 TSFM 10102 HP:0005157 Concentric hypertrophic cardiomyopathy OMIM:610505 TSFM 10102 HP:0001511 Intrauterine growth retardation OMIM:610505 TSFM 10102 HP:0011923 Decreased activity of mitochondrial complex I OMIM:610505 TSFM 10102 HP:0001558 Decreased fetal movement OMIM:610505 TSFM 10102 HP:0000648 Optic atrophy OMIM:610505 TSFM 10102 HP:0003819 Death in childhood OMIM:610505 TSFM 10102 HP:0001298 Encephalopathy OMIM:610505 TSFM 10102 HP:0000505 Visual impairment OMIM:610505 TSFM 10102 HP:0002119 Ventriculomegaly OMIM:610505 TSFM 10102 HP:0001250 Seizures OMIM:610505 TSFM 10102 HP:0003236 Elevated serum creatine phosphokinase OMIM:610505 TSFM 10102 HP:0003812 Phenotypic variability OMIM:610505 TSFM 10102 HP:0008347 Decreased activity of mitochondrial complex IV OMIM:610505 TSFM 10102 HP:0001337 Tremor OMIM:610505 TSFM 10102 HP:0001644 Dilated cardiomyopathy OMIM:610505 TSFM 10102 HP:0011924 Decreased activity of mitochondrial complex III OMIM:610505 TSFM 10102 HP:0001251 Ataxia OMIM:610505 TSFM 10102 HP:0000007 Autosomal recessive inheritance OMIM:610505 TSFM 10102 HP:0002878 Respiratory failure OMIM:610505 TSFM 10102 HP:0002240 Hepatomegaly OMIM:610505 TSFM 10102 HP:0100543 Cognitive impairment OMIM:610505 TSFM 10102 HP:0003128 Lactic acidosis OMIM:610505 TSFM 10102 HP:0001324 Muscle weakness OMIM:610505 TSFM 10102 HP:0002151 Increased serum lactate OMIM:610505 TSFM 10102 HP:0001655 Patent foramen ovale OMIM:610505 TSFM 10102 HP:0001643 Patent ductus arteriosus OMIM:610505 TSFM 10102 HP:0001332 Dystonia OMIM:610505 TSFM 10102 HP:0003201 Rhabdomyolysis OMIM:610505 TSFM 10102 HP:0001263 Global developmental delay OMIM:601399 RUNX1 861 HP:0002863 Myelodysplasia OMIM:601399 RUNX1 861 HP:0000006 Autosomal dominant inheritance OMIM:601399 RUNX1 861 HP:0001873 Thrombocytopenia OMIM:601399 RUNX1 861 HP:0003010 Prolonged bleeding time OMIM:601399 RUNX1 861 HP:0000421 Epistaxis OMIM:601399 RUNX1 861 HP:0004808 Acute myeloid leukemia OMIM:601399 RUNX1 861 HP:0004845 Acute monocytic leukemia OMIM:601399 RUNX1 861 HP:0002665 Lymphoma OMIM:601399 RUNX1 861 HP:0000978 Bruising susceptibility OMIM:601399 RUNX1 861 HP:0003006 Neuroblastoma OMIM:601399 RUNX1 861 HP:0003540 Impaired platelet aggregation ORPHANET:3437 PTPN22 26191 HP:0002216 Premature graying of hair ORPHANET:3437 PTPN22 26191 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:3437 PTPN22 26191 HP:0000505 Visual impairment ORPHANET:3437 PTPN22 26191 HP:0100543 Cognitive impairment ORPHANET:3437 PTPN22 26191 HP:0000541 Retinal detachment ORPHANET:3437 PTPN22 26191 HP:0000518 Cataract ORPHANET:3437 PTPN22 26191 HP:0001053 Hypopigmented skin patches ORPHANET:3437 PTPN22 26191 HP:0000499 Abnormality of the eyelashes ORPHANET:3437 PTPN22 26191 HP:0000407 Sensorineural hearing impairment ORPHANET:3437 PTPN22 26191 HP:0004322 Short stature ORPHANET:3437 PTPN22 26191 HP:0000501 Glaucoma ORPHANET:3437 PTPN22 26191 HP:0011362 Abnormal hair quantity OMIM:108330 CYP1A1 1543 HP:0000006 Autosomal dominant inheritance OMIM:108330 CYP1A1 1543 HP:0002664 Neoplasm OMIM:605583 SLC17A8 246213 HP:0000006 Autosomal dominant inheritance OMIM:605583 SLC17A8 246213 HP:0000407 Sensorineural hearing impairment OMIM:251110 MMAB 326625 HP:0001946 Ketosis OMIM:251110 MMAB 326625 HP:0001252 Muscular hypotonia OMIM:251110 MMAB 326625 HP:0001263 Global developmental delay OMIM:251110 MMAB 326625 HP:0002240 Hepatomegaly OMIM:251110 MMAB 326625 HP:0001944 Dehydration OMIM:251110 MMAB 326625 HP:0001873 Thrombocytopenia OMIM:251110 MMAB 326625 HP:0000007 Autosomal recessive inheritance OMIM:251110 MMAB 326625 HP:0008872 Feeding difficulties in infancy OMIM:251110 MMAB 326625 HP:0001876 Pancytopenia OMIM:251110 MMAB 326625 HP:0001508 Failure to thrive OMIM:251110 MMAB 326625 HP:0012120 Methylmalonic aciduria OMIM:251110 MMAB 326625 HP:0001987 Hyperammonemia OMIM:251110 MMAB 326625 HP:0002098 Respiratory distress OMIM:251110 MMAB 326625 HP:0002013 Vomiting OMIM:251110 MMAB 326625 HP:0003210 Decreased methylmalonyl-CoA mutase activity OMIM:251110 MMAB 326625 HP:0002919 Ketonuria OMIM:251110 MMAB 326625 HP:0001875 Neutropenia OMIM:251110 MMAB 326625 HP:0002912 Methylmalonic acidemia OMIM:251110 MMAB 326625 HP:0001254 Lethargy OMIM:251110 MMAB 326625 HP:0003145 Decreased adenosylcobalamin OMIM:251110 MMAB 326625 HP:0003623 Neonatal onset OMIM:251110 MMAB 326625 HP:0001903 Anemia OMIM:251110 MMAB 326625 HP:0001942 Metabolic acidosis OMIM:251110 MMAB 326625 HP:0002154 Hyperglycinemia OMIM:251110 MMAB 326625 HP:0001259 Coma OMIM:612674 ABHD12 26090 HP:0000407 Sensorineural hearing impairment OMIM:612674 ABHD12 26090 HP:0001265 Hyporeflexia OMIM:612674 ABHD12 26090 HP:0000648 Optic atrophy OMIM:612674 ABHD12 26090 HP:0002936 Distal sensory impairment OMIM:612674 ABHD12 26090 HP:0003812 Phenotypic variability OMIM:612674 ABHD12 26090 HP:0001310 Dysmetria OMIM:612674 ABHD12 26090 HP:0003487 Babinski sign OMIM:612674 ABHD12 26090 HP:0002080 Intention tremor OMIM:612674 ABHD12 26090 HP:0001771 Achilles tendon contracture OMIM:612674 ABHD12 26090 HP:0000762 Decreased nerve conduction velocity OMIM:612674 ABHD12 26090 HP:0003677 Slow progression OMIM:612674 ABHD12 26090 HP:0001257 Spasticity OMIM:612674 ABHD12 26090 HP:0003693 Distal amyotrophy OMIM:612674 ABHD12 26090 HP:0001271 Polyneuropathy OMIM:612674 ABHD12 26090 HP:0001347 Hyperreflexia OMIM:612674 ABHD12 26090 HP:0007141 Sensorimotor neuropathy OMIM:612674 ABHD12 26090 HP:0000523 Subcapsular cataract OMIM:612674 ABHD12 26090 HP:0000639 Nystagmus OMIM:612674 ABHD12 26090 HP:0003674 Onset OMIM:612674 ABHD12 26090 HP:0001761 Pes cavus OMIM:612674 ABHD12 26090 HP:0001272 Cerebellar atrophy OMIM:612674 ABHD12 26090 HP:0001260 Dysarthria OMIM:612674 ABHD12 26090 HP:0000510 Retinitis pigmentosa OMIM:612674 ABHD12 26090 HP:0000007 Autosomal recessive inheritance OMIM:131705 COL7A1 1294 HP:0001056 Milia OMIM:131705 COL7A1 1294 HP:0001053 Hypopigmented skin patches OMIM:131705 COL7A1 1294 HP:0001939 Abnormality of metabolism/homeostasis OMIM:131705 COL7A1 1294 HP:0003577 Congenital onset OMIM:131705 COL7A1 1294 HP:0008404 Nail dystrophy OMIM:131705 COL7A1 1294 HP:0001075 Atrophic scars OMIM:131705 COL7A1 1294 HP:0000963 Thin skin OMIM:131705 COL7A1 1294 HP:0001030 Fragile skin OMIM:131705 COL7A1 1294 HP:0008066 Abnormal blistering of the skin OMIM:131705 COL7A1 1294 HP:0000007 Autosomal recessive inheritance OMIM:131705 COL7A1 1294 HP:0100825 Cheilitis OMIM:131705 COL7A1 1294 HP:0000006 Autosomal dominant inheritance OMIM:604292 TP63 8626 HP:0008404 Nail dystrophy OMIM:604292 TP63 8626 HP:0002209 Sparse scalp hair OMIM:604292 TP63 8626 HP:0001770 Toe syndactyly OMIM:604292 TP63 8626 HP:0002225 Sparse pubic hair OMIM:604292 TP63 8626 HP:0000110 Renal dysplasia OMIM:604292 TP63 8626 HP:0001249 Intellectual disability OMIM:604292 TP63 8626 HP:0000863 Central diabetes insipidus OMIM:604292 TP63 8626 HP:0000126 Hydronephrosis OMIM:604292 TP63 8626 HP:0000145 Transverse vaginal septum OMIM:604292 TP63 8626 HP:0000691 Microdontia OMIM:604292 TP63 8626 HP:0001839 Split foot OMIM:604292 TP63 8626 HP:0000824 Growth hormone deficiency OMIM:604292 TP63 8626 HP:0000437 Depressed nasal tip OMIM:604292 TP63 8626 HP:0000175 Cleft palate OMIM:604292 TP63 8626 HP:0000044 Hypogonadotrophic hypogonadism OMIM:604292 TP63 8626 HP:0008551 Microtia OMIM:604292 TP63 8626 HP:0000198 Absence of Stensen duct OMIM:604292 TP63 8626 HP:0000613 Photophobia OMIM:604292 TP63 8626 HP:0000620 Dacrocystitis OMIM:604292 TP63 8626 HP:0000962 Hyperkeratosis OMIM:604292 TP63 8626 HP:0001803 Nail pits OMIM:604292 TP63 8626 HP:0000015 Bladder diverticulum OMIM:604292 TP63 8626 HP:0000653 Sparse eyelashes OMIM:604292 TP63 8626 HP:0002215 Sparse axillary hair OMIM:604292 TP63 8626 HP:0000006 Autosomal dominant inheritance OMIM:604292 TP63 8626 HP:0000498 Blepharitis OMIM:604292 TP63 8626 HP:0000635 Blue irides OMIM:604292 TP63 8626 HP:0001592 Selective tooth agenesis OMIM:604292 TP63 8626 HP:0000327 Hypoplasia of the maxilla OMIM:604292 TP63 8626 HP:0002286 Fair hair OMIM:604292 TP63 8626 HP:0000365 Hearing impairment OMIM:604292 TP63 8626 HP:0000104 Renal agenesis OMIM:604292 TP63 8626 HP:0000670 Carious teeth OMIM:604292 TP63 8626 HP:0001171 Split hand OMIM:604292 TP63 8626 HP:0007513 Generalized hypopigmentation OMIM:604292 TP63 8626 HP:0000217 Xerostomia OMIM:604292 TP63 8626 HP:0000070 Ureterocele OMIM:604292 TP63 8626 HP:0000054 Micropenis OMIM:604292 TP63 8626 HP:0000072 Hydroureter OMIM:604292 TP63 8626 HP:0000081 Duplicated collecting system OMIM:604292 TP63 8626 HP:0001739 Abnormality of the nasopharynx OMIM:604292 TP63 8626 HP:0000535 Sparse eyebrow OMIM:604292 TP63 8626 HP:0000968 Ectodermal dysplasia OMIM:604292 TP63 8626 HP:0000028 Cryptorchidism OMIM:604292 TP63 8626 HP:0000076 Vesicoureteral reflux OMIM:604292 TP63 8626 HP:0000453 Choanal atresia OMIM:604292 TP63 8626 HP:0000204 Cleft upper lip OMIM:604292 TP63 8626 HP:0002557 Hypoplastic nipples OMIM:604292 TP63 8626 HP:0000581 Blepharophimosis OMIM:604292 TP63 8626 HP:0000272 Malar flattening OMIM:610758 ERCC1 2067 HP:0002353 EEG abnormality OMIM:610758 ERCC1 2067 HP:0000490 Deeply set eye OMIM:610758 ERCC1 2067 HP:0000347 Micrognathia OMIM:610758 ERCC1 2067 HP:0001321 Cerebellar hypoplasia OMIM:610758 ERCC1 2067 HP:0100490 Camptodactyly of finger OMIM:610758 ERCC1 2067 HP:0002126 Polymicrogyria OMIM:610758 ERCC1 2067 HP:0001531 Failure to thrive in infancy OMIM:610758 ERCC1 2067 HP:0001276 Hypertonia OMIM:610758 ERCC1 2067 HP:0003828 Variable expressivity OMIM:610758 ERCC1 2067 HP:0001347 Hyperreflexia OMIM:610758 ERCC1 2067 HP:0005458 Premature closure of fontanelles OMIM:610758 ERCC1 2067 HP:0002804 Arthrogryposis multiplex congenita OMIM:610758 ERCC1 2067 HP:0000007 Autosomal recessive inheritance OMIM:610758 ERCC1 2067 HP:0000368 Low-set, posteriorly rotated ears OMIM:610758 ERCC1 2067 HP:0003577 Congenital onset OMIM:610758 ERCC1 2067 HP:0007633 Bilateral microphthalmos OMIM:610758 ERCC1 2067 HP:0003100 Slender long bone OMIM:610758 ERCC1 2067 HP:0004322 Short stature OMIM:610758 ERCC1 2067 HP:0000322 Short philtrum OMIM:610758 ERCC1 2067 HP:0000639 Nystagmus OMIM:610758 ERCC1 2067 HP:0001181 Adducted thumb OMIM:610758 ERCC1 2067 HP:0001511 Intrauterine growth retardation OMIM:610758 ERCC1 2067 HP:0001838 Rocker bottom foot OMIM:610758 ERCC1 2067 HP:0009879 Cortical gyral simplification OMIM:610758 ERCC1 2067 HP:0000426 Prominent nasal bridge OMIM:610758 ERCC1 2067 HP:0002827 Hip dislocation OMIM:610758 ERCC1 2067 HP:0000581 Blepharophimosis OMIM:610758 ERCC1 2067 HP:0003083 Dislocated radial head OMIM:610758 ERCC1 2067 HP:0002751 Kyphoscoliosis OMIM:610758 ERCC1 2067 HP:0000252 Microcephaly OMIM:610758 ERCC1 2067 HP:0003015 Flared metaphysis OMIM:610758 ERCC1 2067 HP:0001263 Global developmental delay OMIM:610758 ERCC1 2067 HP:0005830 Flexion contracture of toe OMIM:215700 ASS1 445 HP:0001987 Hyperammonemia OMIM:215700 ASS1 445 HP:0000737 Irritability OMIM:215700 ASS1 445 HP:0003218 Oroticaciduria OMIM:215700 ASS1 445 HP:0002038 Protein avoidance OMIM:215700 ASS1 445 HP:0002013 Vomiting OMIM:215700 ASS1 445 HP:0001251 Ataxia OMIM:215700 ASS1 445 HP:0000007 Autosomal recessive inheritance OMIM:215700 ASS1 445 HP:0001950 Respiratory alkalosis OMIM:215700 ASS1 445 HP:0003217 Hyperglutaminemia OMIM:215700 ASS1 445 HP:0001250 Seizures OMIM:215700 ASS1 445 HP:0001297 Stroke OMIM:215700 ASS1 445 HP:0002181 Cerebral edema OMIM:215700 ASS1 445 HP:0001508 Failure to thrive OMIM:215700 ASS1 445 HP:0001951 Episodic ammonia intoxication OMIM:215700 ASS1 445 HP:0002240 Hepatomegaly OMIM:215700 ASS1 445 HP:0001259 Coma OMIM:215700 ASS1 445 HP:0003812 Phenotypic variability OMIM:215700 ASS1 445 HP:0005961 Hypoargininemia OMIM:215700 ASS1 445 HP:0003623 Neonatal onset OMIM:215700 ASS1 445 HP:0001254 Lethargy OMIM:215700 ASS1 445 HP:0001263 Global developmental delay OMIM:215700 ASS1 445 HP:0001249 Intellectual disability OMIM:600635 NKX2-1 7080 HP:0001939 Abnormality of metabolism/homeostasis OMIM:600635 NKX2-1 7080 HP:0008251 Congenital goiter OMIM:615040 TRPA1 8989 HP:0003593 Infantile onset OMIM:615040 TRPA1 8989 HP:0012531 Pain OMIM:615040 TRPA1 8989 HP:0000006 Autosomal dominant inheritance OMIM:266200 PKLR 5313 HP:0004870 Chronic hemolytic anemia OMIM:266200 PKLR 5313 HP:0001790 Nonimmune hydrops fetalis OMIM:266200 PKLR 5313 HP:0001082 Cholecystitis OMIM:266200 PKLR 5313 HP:0005502 Increased red cell osmotic fragility OMIM:266200 PKLR 5313 HP:0000952 Jaundice OMIM:266200 PKLR 5313 HP:0001923 Reticulocytosis OMIM:266200 PKLR 5313 HP:0001744 Splenomegaly OMIM:266200 PKLR 5313 HP:0001560 Abnormality of the amniotic fluid OMIM:266200 PKLR 5313 HP:0001081 Cholelithiasis OMIM:266200 PKLR 5313 HP:0008282 Unconjugated hyperbilirubinemia OMIM:266200 PKLR 5313 HP:0001511 Intrauterine growth retardation OMIM:266200 PKLR 5313 HP:0000007 Autosomal recessive inheritance ORPHANET:1040 MMP9 4318 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:1040 MMP9 4318 HP:0001376 Limitation of joint mobility ORPHANET:1040 MMP9 4318 HP:0005930 Abnormality of epiphysis morphology ORPHANET:1040 MMP9 4318 HP:0006487 Bowing of the long bones ORPHANET:1040 MMP9 4318 HP:0002997 Abnormality of the ulna ORPHANET:1040 MMP9 4318 HP:0004322 Short stature ORPHANET:1040 MMP9 4318 HP:0009826 Limb undergrowth ORPHANET:1040 MMP9 4318 HP:0002814 Abnormality of the lower limb ORPHANET:1040 MMP9 4318 HP:0000944 Abnormality of the metaphyses ORPHANET:1040 MMP13 4322 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:1040 MMP13 4322 HP:0001376 Limitation of joint mobility ORPHANET:1040 MMP13 4322 HP:0005930 Abnormality of epiphysis morphology ORPHANET:1040 MMP13 4322 HP:0006487 Bowing of the long bones ORPHANET:1040 MMP13 4322 HP:0002997 Abnormality of the ulna ORPHANET:1040 MMP13 4322 HP:0004322 Short stature ORPHANET:1040 MMP13 4322 HP:0009826 Limb undergrowth ORPHANET:1040 MMP13 4322 HP:0002814 Abnormality of the lower limb ORPHANET:1040 MMP13 4322 HP:0000944 Abnormality of the metaphyses OMIM:614052 TMEM70 54968 HP:0005469 Flat occiput OMIM:614052 TMEM70 54968 HP:0000023 Inguinal hernia OMIM:614052 TMEM70 54968 HP:0003128 Lactic acidosis OMIM:614052 TMEM70 54968 HP:0000028 Cryptorchidism OMIM:614052 TMEM70 54968 HP:0001511 Intrauterine growth retardation OMIM:614052 TMEM70 54968 HP:0002352 Leukoencephalopathy OMIM:614052 TMEM70 54968 HP:0000308 Microretrognathia OMIM:614052 TMEM70 54968 HP:0002120 Cerebral cortical atrophy OMIM:614052 TMEM70 54968 HP:0001641 Abnormality of the pulmonary valve OMIM:614052 TMEM70 54968 HP:0002093 Respiratory insufficiency OMIM:614052 TMEM70 54968 HP:0000007 Autosomal recessive inheritance OMIM:614052 TMEM70 54968 HP:0002151 Increased serum lactate OMIM:614052 TMEM70 54968 HP:0001622 Premature birth OMIM:614052 TMEM70 54968 HP:0001508 Failure to thrive OMIM:614052 TMEM70 54968 HP:0001987 Hyperammonemia OMIM:614052 TMEM70 54968 HP:0003577 Congenital onset OMIM:614052 TMEM70 54968 HP:0003535 3-Methylglutaconic aciduria OMIM:614052 TMEM70 54968 HP:0001337 Tremor OMIM:614052 TMEM70 54968 HP:0003348 Hyperalaninemia OMIM:614052 TMEM70 54968 HP:0000252 Microcephaly OMIM:614052 TMEM70 54968 HP:0001251 Ataxia OMIM:614052 TMEM70 54968 HP:0000368 Low-set, posteriorly rotated ears OMIM:614052 TMEM70 54968 HP:0000347 Micrognathia OMIM:614052 TMEM70 54968 HP:0001252 Muscular hypotonia OMIM:614052 TMEM70 54968 HP:0000343 Long philtrum OMIM:614052 TMEM70 54968 HP:0001639 Hypertrophic cardiomyopathy OMIM:614052 TMEM70 54968 HP:0100627 Displacement of the external urethral meatus OMIM:614052 TMEM70 54968 HP:0001562 Oligohydramnios OMIM:614052 TMEM70 54968 HP:0001250 Seizures OMIM:614052 TMEM70 54968 HP:0001646 Abnormality of the aortic valve OMIM:614052 TMEM70 54968 HP:0000431 Wide nasal bridge OMIM:614052 TMEM70 54968 HP:0000077 Abnormality of the kidney OMIM:614052 TMEM70 54968 HP:0002383 Encephalitis OMIM:614052 TMEM70 54968 HP:0001635 Congestive heart failure OMIM:614052 TMEM70 54968 HP:0002240 Hepatomegaly OMIM:614052 TMEM70 54968 HP:0000322 Short philtrum OMIM:614052 TMEM70 54968 HP:0012368 Flat face OMIM:614052 TMEM70 54968 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:614052 TMEM70 54968 HP:0000047 Hypospadias OMIM:614052 TMEM70 54968 HP:0001518 Small for gestational age OMIM:614052 TMEM70 54968 HP:0001298 Encephalopathy OMIM:614052 TMEM70 54968 HP:0001263 Global developmental delay OMIM:614052 TMEM70 54968 HP:0000154 Wide mouth OMIM:614052 TMEM70 54968 HP:0011675 Arrhythmia OMIM:614052 TMEM70 54968 HP:0001537 Umbilical hernia OMIM:614052 TMEM70 54968 HP:0000369 Low-set ears OMIM:614052 TMEM70 54968 HP:0000518 Cataract OMIM:614052 TMEM70 54968 HP:0100490 Camptodactyly of finger OMIM:614052 TMEM70 54968 HP:0100543 Cognitive impairment OMIM:224690 ORC1 4998 HP:0000883 Thin ribs OMIM:224690 ORC1 4998 HP:0002937 Hemivertebrae OMIM:224690 ORC1 4998 HP:0200055 Small hand OMIM:224690 ORC1 4998 HP:0006628 Absent sternal ossification OMIM:224690 ORC1 4998 HP:0000175 Cleft palate OMIM:224690 ORC1 4998 HP:0004279 Short palm OMIM:224690 ORC1 4998 HP:0000691 Microdontia OMIM:224690 ORC1 4998 HP:0000527 Long eyelashes OMIM:224690 ORC1 4998 HP:0000773 Short ribs OMIM:224690 ORC1 4998 HP:0000963 Thin skin OMIM:224690 ORC1 4998 HP:0009473 Joint contracture of the hand OMIM:224690 ORC1 4998 HP:0001762 Talipes equinovarus OMIM:224690 ORC1 4998 HP:0002857 Genu valgum OMIM:224690 ORC1 4998 HP:0000486 Strabismus OMIM:224690 ORC1 4998 HP:0000327 Hypoplasia of the maxilla OMIM:224690 ORC1 4998 HP:0000413 Atresia of the external auditory canal OMIM:224690 ORC1 4998 HP:0002020 Gastroesophageal reflux OMIM:224690 ORC1 4998 HP:0012385 Camptodactyly OMIM:224690 ORC1 4998 HP:0001511 Intrauterine growth retardation OMIM:224690 ORC1 4998 HP:0012745 Short palpebral fissure OMIM:224690 ORC1 4998 HP:0002970 Genu varum OMIM:224690 ORC1 4998 HP:0000252 Microcephaly OMIM:224690 ORC1 4998 HP:0000581 Blepharophimosis OMIM:224690 ORC1 4998 HP:0010554 Cutaneous finger syndactyly OMIM:224690 ORC1 4998 HP:0000028 Cryptorchidism OMIM:224690 ORC1 4998 HP:0000376 Incomplete partition of the cochlea type II OMIM:224690 ORC1 4998 HP:0000237 Small anterior fontanelle OMIM:224690 ORC1 4998 HP:0000054 Micropenis OMIM:224690 ORC1 4998 HP:0000179 Thick lower lip vermilion OMIM:224690 ORC1 4998 HP:0000007 Autosomal recessive inheritance OMIM:224690 ORC1 4998 HP:0000064 Hypoplastic labia minora OMIM:224690 ORC1 4998 HP:0000347 Micrognathia OMIM:224690 ORC1 4998 HP:0000160 Narrow mouth OMIM:224690 ORC1 4998 HP:0000895 Lateral clavicle hook OMIM:224690 ORC1 4998 HP:0003042 Elbow dislocation OMIM:224690 ORC1 4998 HP:0001518 Small for gestational age OMIM:224690 ORC1 4998 HP:0000059 Hypoplastic labia majora OMIM:224690 ORC1 4998 HP:0000365 Hearing impairment OMIM:224690 ORC1 4998 HP:0000057 Clitoromegaly OMIM:224690 ORC1 4998 HP:0003187 Breast hypoplasia OMIM:224690 ORC1 4998 HP:0000768 Pectus carinatum OMIM:224690 ORC1 4998 HP:0008872 Feeding difficulties in infancy OMIM:224690 ORC1 4998 HP:0006591 Absent glenoid fossa OMIM:224690 ORC1 4998 HP:0001795 Hyperconvex nail OMIM:224690 ORC1 4998 HP:0003100 Slender long bone OMIM:224690 ORC1 4998 HP:0004209 Clinodactyly of the 5th finger OMIM:224690 ORC1 4998 HP:0008551 Microtia OMIM:224690 ORC1 4998 HP:0000911 Flat glenoid fossa OMIM:224690 ORC1 4998 HP:0002007 Frontal bossing OMIM:224690 ORC1 4998 HP:0000049 Shawl scrotum OMIM:224690 ORC1 4998 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:224690 ORC1 4998 HP:0002750 Delayed skeletal maturation OMIM:224690 ORC1 4998 HP:0001249 Intellectual disability OMIM:224690 ORC1 4998 HP:0006498 Aplasia/Hypoplasia of the patella OMIM:224690 ORC1 4998 HP:0003561 Birth length less than 3rd percentile OMIM:224690 ORC1 4998 HP:0000218 High palate OMIM:224690 ORC1 4998 HP:0000369 Low-set ears OMIM:224690 ORC1 4998 HP:0001388 Joint laxity OMIM:224690 ORC1 4998 HP:0001425 Heterogeneous OMIM:224690 ORC1 4998 HP:0001623 Breech presentation OMIM:224690 ORC1 4998 HP:0002098 Respiratory distress OMIM:224690 ORC1 4998 HP:0001508 Failure to thrive OMIM:611584 SOX10 6663 HP:0006808 Cerebral hypomyelination OMIM:611584 SOX10 6663 HP:0000639 Nystagmus OMIM:611584 SOX10 6663 HP:0011381 Aplasia of the semicircular canal OMIM:611584 SOX10 6663 HP:0007894 Hypopigmentation of the fundus OMIM:611584 SOX10 6663 HP:0000635 Blue irides OMIM:611584 SOX10 6663 HP:0000006 Autosomal dominant inheritance OMIM:611584 SOX10 6663 HP:0002227 White eyelashes OMIM:611584 SOX10 6663 HP:0001249 Intellectual disability OMIM:611584 SOX10 6663 HP:0000957 Cafe-au-lait spot OMIM:611584 SOX10 6663 HP:0002216 Premature graying of hair OMIM:611584 SOX10 6663 HP:0000767 Pectus excavatum OMIM:611584 SOX10 6663 HP:0002226 White eyebrow OMIM:611584 SOX10 6663 HP:0011382 Hypoplasia of the semicircular canal OMIM:611584 SOX10 6663 HP:0001276 Hypertonia OMIM:611584 SOX10 6663 HP:0001100 Heterochromia iridis OMIM:611584 SOX10 6663 HP:0002211 White forelock OMIM:611584 SOX10 6663 HP:0000458 Anosmia OMIM:611584 SOX10 6663 HP:0001425 Heterogeneous OMIM:611584 SOX10 6663 HP:0003812 Phenotypic variability OMIM:611584 SOX10 6663 HP:0008936 Muscular hypotonia of the trunk OMIM:611584 SOX10 6663 HP:0001053 Hypopigmented skin patches OMIM:611584 SOX10 6663 HP:0011379 Dilated vestibule of the inner ear OMIM:611584 SOX10 6663 HP:0000407 Sensorineural hearing impairment OMIM:611584 SOX10 6663 HP:0007676 Hypoplasia of the iris OMIM:611584 SOX10 6663 HP:0001107 Ocular albinism OMIM:611584 SOX10 6663 HP:0001263 Global developmental delay OMIM:611090 ST3GAL3 6487 HP:0001249 Intellectual disability OMIM:611090 ST3GAL3 6487 HP:0000007 Autosomal recessive inheritance OMIM:300928 MID2 11043 HP:0001263 Global developmental delay OMIM:300928 MID2 11043 HP:0002465 Poor speech OMIM:300928 MID2 11043 HP:0000486 Strabismus OMIM:300928 MID2 11043 HP:0000752 Hyperactivity OMIM:300928 MID2 11043 HP:0001250 Seizures OMIM:300928 MID2 11043 HP:0000400 Macrotia OMIM:300928 MID2 11043 HP:0000276 Long face OMIM:300928 MID2 11043 HP:0001249 Intellectual disability OMIM:300928 MID2 11043 HP:0001344 Absent speech OMIM:614167 ZNF644 84146 HP:0000006 Autosomal dominant inheritance OMIM:614167 ZNF644 84146 HP:0011003 Severe Myopia OMIM:274400 SLC5A5 6528 HP:0000958 Dry skin OMIM:274400 SLC5A5 6528 HP:0000158 Macroglossia OMIM:274400 SLC5A5 6528 HP:0001254 Lethargy OMIM:274400 SLC5A5 6528 HP:0000853 Goiter OMIM:274400 SLC5A5 6528 HP:0002019 Constipation OMIM:274400 SLC5A5 6528 HP:0001249 Intellectual disability OMIM:274400 SLC5A5 6528 HP:0001510 Growth delay OMIM:274400 SLC5A5 6528 HP:0000821 Hypothyroidism OMIM:274400 SLC5A5 6528 HP:0001537 Umbilical hernia OMIM:274400 SLC5A5 6528 HP:0000007 Autosomal recessive inheritance ORPHANET:35612 TMEM98 26022 HP:0000501 Glaucoma ORPHANET:35612 TMEM98 26022 HP:0000486 Strabismus ORPHANET:35612 TMEM98 26022 HP:0000540 Hypermetropia ORPHANET:35612 TMEM98 26022 HP:0007703 Abnormal retinal pigmentation ORPHANET:35612 TMEM98 26022 HP:0001139 Choroideremia ORPHANET:35612 TMEM98 26022 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:35612 MFRP 83552 HP:0000501 Glaucoma ORPHANET:35612 MFRP 83552 HP:0000486 Strabismus ORPHANET:35612 MFRP 83552 HP:0000540 Hypermetropia ORPHANET:35612 MFRP 83552 HP:0007703 Abnormal retinal pigmentation ORPHANET:35612 MFRP 83552 HP:0001139 Choroideremia ORPHANET:35612 MFRP 83552 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:194533 ZNF35 7584 HP:0002664 Neoplasm OMIM:194533 ZNF35 7584 HP:0000006 Autosomal dominant inheritance OMIM:136120 LCAT 3931 HP:0002240 Hepatomegaly OMIM:136120 LCAT 3931 HP:0000007 Autosomal recessive inheritance OMIM:136120 LCAT 3931 HP:0003362 Increased circulating very-low-density lipoprotein cholesterol OMIM:136120 LCAT 3931 HP:0002155 Hypertriglyceridemia OMIM:136120 LCAT 3931 HP:0007759 Opacification of the corneal stroma OMIM:136120 LCAT 3931 HP:0002716 Lymphadenopathy OMIM:136120 LCAT 3931 HP:0003141 Hyperbetalipoproteinemia OMIM:136120 LCAT 3931 HP:0001744 Splenomegaly OMIM:136120 LCAT 3931 HP:0003233 Hypoalphalipoproteinemia OMIM:136120 LCAT 3931 HP:0001677 Coronary artery disease OMIM:614074 HPS5 11234 HP:0001022 Albinism OMIM:614074 HPS5 11234 HP:0000007 Autosomal recessive inheritance OMIM:614074 HPS5 11234 HP:0001107 Ocular albinism OMIM:614074 HPS5 11234 HP:0000978 Bruising susceptibility OMIM:614074 HPS5 11234 HP:0001873 Thrombocytopenia OMIM:614113 DOCK8 81704 HP:0001263 Global developmental delay OMIM:614113 DOCK8 81704 HP:0001249 Intellectual disability OMIM:614113 DOCK8 81704 HP:0000006 Autosomal dominant inheritance OMIM:616411 COL6A3 1293 HP:0002174 Postural tremor OMIM:616411 COL6A3 1293 HP:0002356 Writer's cramp OMIM:616411 COL6A3 1293 HP:0012049 Laryngeal dystonia OMIM:616411 COL6A3 1293 HP:0012048 Oromandibular dystonia OMIM:614924 EARS2 124454 HP:0011923 Decreased activity of mitochondrial complex I OMIM:614924 EARS2 124454 HP:0000175 Cleft palate OMIM:614924 EARS2 124454 HP:0002151 Increased serum lactate OMIM:614924 EARS2 124454 HP:0001332 Dystonia OMIM:614924 EARS2 124454 HP:0001403 Macrovesicular hepatic steatosis OMIM:614924 EARS2 124454 HP:0001285 Spastic tetraparesis OMIM:614924 EARS2 124454 HP:0003200 Ragged-red muscle fibers OMIM:614924 EARS2 124454 HP:0001319 Neonatal hypotonia OMIM:614924 EARS2 124454 HP:0011924 Decreased activity of mitochondrial complex III OMIM:614924 EARS2 124454 HP:0002352 Leukoencephalopathy OMIM:614924 EARS2 124454 HP:0000505 Visual impairment OMIM:614924 EARS2 124454 HP:0002079 Hypoplasia of the corpus callosum OMIM:614924 EARS2 124454 HP:0002376 Developmental regression OMIM:614924 EARS2 124454 HP:0002240 Hepatomegaly OMIM:614924 EARS2 124454 HP:0001508 Failure to thrive OMIM:614924 EARS2 124454 HP:0006989 Dysplastic corpus callosum OMIM:614924 EARS2 124454 HP:0000602 Ophthalmoplegia OMIM:614924 EARS2 124454 HP:0001263 Global developmental delay OMIM:614924 EARS2 124454 HP:0002067 Bradykinesia OMIM:614924 EARS2 124454 HP:0000007 Autosomal recessive inheritance OMIM:614924 EARS2 124454 HP:0008347 Decreased activity of mitochondrial complex IV OMIM:614924 EARS2 124454 HP:0001396 Cholestasis OMIM:614924 EARS2 124454 HP:0003128 Lactic acidosis OMIM:614924 EARS2 124454 HP:0000508 Ptosis OMIM:614924 EARS2 124454 HP:0001250 Seizures OMIM:614924 EARS2 124454 HP:0003593 Infantile onset OMIM:610644 RSPO1 284654 HP:0000982 Palmoplantar keratoderma OMIM:606766 SLC26A8 116369 HP:0000006 Autosomal dominant inheritance OMIM:609439 CIB2 10518 HP:0011476 Profound sensorineural hearing impairment OMIM:609439 CIB2 10518 HP:0001751 Vestibular dysfunction OMIM:609439 CIB2 10518 HP:0000007 Autosomal recessive inheritance OMIM:308100 STS 412 HP:0000962 Hyperkeratosis OMIM:308100 STS 412 HP:0001419 X-linked recessive inheritance OMIM:308100 STS 412 HP:0100543 Cognitive impairment OMIM:308100 STS 412 HP:0007431 Congenital ichthyosiform erythroderma OMIM:308100 STS 412 HP:0004322 Short stature OMIM:308100 STS 412 HP:0000028 Cryptorchidism OMIM:308100 STS 412 HP:0002167 Neurological speech impairment OMIM:308100 STS 412 HP:0004408 Abnormality of the sense of smell OMIM:308100 STS 412 HP:0002577 Abnormality of the stomach OMIM:308100 STS 412 HP:0010788 Testicular neoplasm OMIM:308100 STS 412 HP:0001250 Seizures OMIM:308100 STS 412 HP:0001939 Abnormality of metabolism/homeostasis OMIM:308100 STS 412 HP:0000958 Dry skin OMIM:308100 STS 412 HP:0007759 Opacification of the corneal stroma OMIM:308100 STS 412 HP:0000966 Hypohidrosis OMIM:308100 STS 412 HP:0004298 Abnormality of the abdominal wall OMIM:308100 STS 412 HP:0008678 Renal hypoplasia/aplasia OMIM:308100 STS 412 HP:0008064 Ichthyosis OMIM:308100 STS 412 HP:0002664 Neoplasm OMIM:308100 STS 412 HP:0007018 Attention deficit hyperactivity disorder OMIM:308100 STS 412 HP:0002488 Acute leukemia OMIM:308100 STS 412 HP:0000717 Autism OMIM:308100 STS 412 HP:0002269 Abnormality of neuronal migration OMIM:308100 STS 412 HP:0000083 Renal insufficiency OMIM:616212 KATNB1 10300 HP:0002119 Ventriculomegaly OMIM:616212 KATNB1 10300 HP:0001338 Partial agenesis of the corpus callosum OMIM:616212 KATNB1 10300 HP:0000340 Sloping forehead OMIM:616212 KATNB1 10300 HP:0001347 Hyperreflexia OMIM:616212 KATNB1 10300 HP:0001250 Seizures OMIM:616212 KATNB1 10300 HP:0001339 Lissencephaly OMIM:616212 KATNB1 10300 HP:0001270 Motor delay OMIM:616212 KATNB1 10300 HP:0100543 Cognitive impairment OMIM:616212 KATNB1 10300 HP:0002126 Polymicrogyria OMIM:616212 KATNB1 10300 HP:0001302 Pachygyria OMIM:616212 KATNB1 10300 HP:0001263 Global developmental delay OMIM:616212 KATNB1 10300 HP:0001257 Spasticity OMIM:616212 KATNB1 10300 HP:0000252 Microcephaly OMIM:616212 KATNB1 10300 HP:0009879 Cortical gyral simplification OMIM:616212 KATNB1 10300 HP:0002509 Limb hypertonia OMIM:616212 KATNB1 10300 HP:0002079 Hypoplasia of the corpus callosum OMIM:613870 ECE1 1889 HP:0000414 Bulbous nose OMIM:613870 ECE1 1889 HP:0001182 Tapered finger OMIM:613870 ECE1 1889 HP:0001643 Patent ductus arteriosus OMIM:613870 ECE1 1889 HP:0001795 Hyperconvex nail OMIM:613870 ECE1 1889 HP:0003196 Short nose OMIM:613870 ECE1 1889 HP:0000378 Cupped ear OMIM:613870 ECE1 1889 HP:0009626 Contractures of the interphalangeal joint of the thumb OMIM:613870 ECE1 1889 HP:0000006 Autosomal dominant inheritance OMIM:613870 ECE1 1889 HP:0000358 Posteriorly rotated ears OMIM:613870 ECE1 1889 HP:0001631 Defect in the atrial septum OMIM:613870 ECE1 1889 HP:0001629 Ventricular septal defect OMIM:613870 ECE1 1889 HP:0002251 Aganglionic megacolon OMIM:613870 ECE1 1889 HP:0002459 Dysautonomia OMIM:613870 ECE1 1889 HP:0000054 Micropenis OMIM:600195 TEK 7010 HP:0000006 Autosomal dominant inheritance OMIM:600195 TEK 7010 HP:0002584 Intestinal bleeding OMIM:600195 TEK 7010 HP:0012721 Venous malformation OMIM:600195 TEK 7010 HP:0100026 Arteriovenous malformation OMIM:600195 TEK 7010 HP:0000153 Abnormality of the mouth OMIM:139300 CYP19A1 1588 HP:0000771 Gynecomastia OMIM:139300 CYP19A1 1588 HP:0000006 Autosomal dominant inheritance OMIM:139300 CYP19A1 1588 HP:0005616 Accelerated skeletal maturation OMIM:139300 CYP19A1 1588 HP:0004322 Short stature OMIM:187800 ITGB3 3690 HP:0000006 Autosomal dominant inheritance OMIM:187800 ITGB3 3690 HP:0003540 Impaired platelet aggregation OMIM:187800 ITGB3 3690 HP:0000967 Petechiae OMIM:187800 ITGB3 3690 HP:0001903 Anemia OMIM:187800 ITGB3 3690 HP:0001902 Giant platelets OMIM:187800 ITGA2B 3674 HP:0000006 Autosomal dominant inheritance OMIM:187800 ITGA2B 3674 HP:0003540 Impaired platelet aggregation OMIM:187800 ITGA2B 3674 HP:0000967 Petechiae OMIM:187800 ITGA2B 3674 HP:0001903 Anemia OMIM:187800 ITGA2B 3674 HP:0001902 Giant platelets OMIM:604432 TTBK2 146057 HP:0000639 Nystagmus OMIM:604432 TTBK2 146057 HP:0003581 Adult onset OMIM:604432 TTBK2 146057 HP:0001347 Hyperreflexia OMIM:604432 TTBK2 146057 HP:0001260 Dysarthria OMIM:604432 TTBK2 146057 HP:0001272 Cerebellar atrophy OMIM:604432 TTBK2 146057 HP:0000006 Autosomal dominant inheritance OMIM:604432 TTBK2 146057 HP:0002073 Progressive cerebellar ataxia OMIM:613341 LRAT 9227 HP:0000662 Night blindness OMIM:613341 LRAT 9227 HP:0000556 Retinal dystrophy OMIM:613341 LRAT 9227 HP:0000550 Abolished electroretinogram (ERG) OMIM:613341 LRAT 9227 HP:0000543 Optic disc pallor OMIM:613341 LRAT 9227 HP:0000639 Nystagmus OMIM:613341 LRAT 9227 HP:0000980 Pallor OMIM:613341 LRAT 9227 HP:0007875 Congenital blindness OMIM:613341 LRAT 9227 HP:0000510 Retinitis pigmentosa OMIM:613341 LRAT 9227 HP:0000007 Autosomal recessive inheritance OMIM:613341 LRAT 9227 HP:0002527 Falls OMIM:613341 LRAT 9227 HP:0000654 Decreased electroretinogram (ERG) amplitude OMIM:613341 LRAT 9227 HP:0000613 Photophobia OMIM:605407 TH 7054 HP:0002066 Gait ataxia OMIM:605407 TH 7054 HP:0003785 Decreased CSF homovanillic acid (HVA) OMIM:605407 TH 7054 HP:0002548 Parkinsonism with favorable response to dopaminergic medication OMIM:605407 TH 7054 HP:0000508 Ptosis OMIM:605407 TH 7054 HP:0001336 Myoclonus OMIM:605407 TH 7054 HP:0001337 Tremor OMIM:605407 TH 7054 HP:0001270 Motor delay OMIM:605407 TH 7054 HP:0001300 Parkinsonism OMIM:605407 TH 7054 HP:0002451 Limb dystonia OMIM:605407 TH 7054 HP:0002063 Rigidity OMIM:605407 TH 7054 HP:0002375 Hypokinesia OMIM:605407 TH 7054 HP:0007087 Involuntary jerking movements OMIM:605407 TH 7054 HP:0003593 Infantile onset OMIM:605407 TH 7054 HP:0008936 Muscular hypotonia of the trunk OMIM:605407 TH 7054 HP:0000298 Mask-like facies OMIM:605407 TH 7054 HP:0000750 Delayed speech and language development OMIM:605407 TH 7054 HP:0003828 Variable expressivity OMIM:605407 TH 7054 HP:0000007 Autosomal recessive inheritance OMIM:605714 APP 351 HP:0011695 Cerebellar hemorrhage OMIM:605714 APP 351 HP:0001288 Gait disturbance OMIM:605714 APP 351 HP:0002514 Cerebral calcification OMIM:605714 APP 351 HP:0002637 Cerebral ischemia OMIM:605714 APP 351 HP:0002076 Migraine OMIM:605714 APP 351 HP:0000708 Behavioral abnormality OMIM:605714 APP 351 HP:0001297 Stroke OMIM:605714 APP 351 HP:0002376 Developmental regression OMIM:605714 APP 351 HP:0003401 Paresthesia OMIM:605714 APP 351 HP:0000006 Autosomal dominant inheritance OMIM:605714 APP 351 HP:0011970 Cerebral amyloid angiopathy OMIM:605714 APP 351 HP:0008872 Feeding difficulties in infancy OMIM:605714 APP 351 HP:0004372 Reduced consciousness/confusion OMIM:605714 APP 351 HP:0000726 Dementia OMIM:605714 APP 351 HP:0002354 Memory impairment OMIM:605714 APP 351 HP:0004305 Involuntary movements OMIM:605714 APP 351 HP:0001250 Seizures OMIM:605714 APP 351 HP:0004968 Recurrent cerebral hemorrhage OMIM:605714 APP 351 HP:0002170 Intracranial hemorrhage OMIM:605714 APP 351 HP:0004938 Tortuous cerebral arteries ORPHANET:428 GNA11 2767 HP:0002615 Hypotension ORPHANET:428 GNA11 2767 HP:0001596 Alopecia ORPHANET:428 GNA11 2767 HP:0000708 Behavioral abnormality ORPHANET:428 GNA11 2767 HP:0000964 Eczema ORPHANET:428 GNA11 2767 HP:0001231 Abnormality of the fingernails ORPHANET:428 GNA11 2767 HP:0002793 Abnormal pattern of respiration ORPHANET:428 GNA11 2767 HP:0001371 Flexion contracture ORPHANET:428 GNA11 2767 HP:0004372 Reduced consciousness/confusion ORPHANET:428 GNA11 2767 HP:0002905 Hyperphosphatemia ORPHANET:428 GNA11 2767 HP:0004305 Involuntary movements ORPHANET:428 GNA11 2767 HP:0011675 Arrhythmia ORPHANET:428 GNA11 2767 HP:0003401 Paresthesia ORPHANET:428 GNA11 2767 HP:0000787 Nephrolithiasis ORPHANET:428 GNA11 2767 HP:0002901 Hypocalcemia ORPHANET:428 GNA11 2767 HP:0002150 Hypercalciuria ORPHANET:428 GNA11 2767 HP:0001635 Congestive heart failure ORPHANET:428 GNA11 2767 HP:0000958 Dry skin ORPHANET:428 GNA11 2767 HP:0000648 Optic atrophy ORPHANET:428 GNA11 2767 HP:0002516 Increased intracranial pressure ORPHANET:428 GNA11 2767 HP:0002027 Abdominal pain ORPHANET:428 GNA11 2767 HP:0004349 Reduced bone mineral density ORPHANET:428 GNA11 2767 HP:0007400 Irregular hyperpigmentation ORPHANET:428 GNA11 2767 HP:0003457 EMG abnormality ORPHANET:428 CASR 846 HP:0002615 Hypotension ORPHANET:428 CASR 846 HP:0001596 Alopecia ORPHANET:428 CASR 846 HP:0000708 Behavioral abnormality ORPHANET:428 CASR 846 HP:0000964 Eczema ORPHANET:428 CASR 846 HP:0001231 Abnormality of the fingernails ORPHANET:428 CASR 846 HP:0002793 Abnormal pattern of respiration ORPHANET:428 CASR 846 HP:0001371 Flexion contracture ORPHANET:428 CASR 846 HP:0004372 Reduced consciousness/confusion ORPHANET:428 CASR 846 HP:0002905 Hyperphosphatemia ORPHANET:428 CASR 846 HP:0004305 Involuntary movements ORPHANET:428 CASR 846 HP:0011675 Arrhythmia ORPHANET:428 CASR 846 HP:0003401 Paresthesia ORPHANET:428 CASR 846 HP:0000787 Nephrolithiasis ORPHANET:428 CASR 846 HP:0002901 Hypocalcemia ORPHANET:428 CASR 846 HP:0002150 Hypercalciuria ORPHANET:428 CASR 846 HP:0001635 Congestive heart failure ORPHANET:428 CASR 846 HP:0000958 Dry skin ORPHANET:428 CASR 846 HP:0000648 Optic atrophy ORPHANET:428 CASR 846 HP:0002516 Increased intracranial pressure ORPHANET:428 CASR 846 HP:0002027 Abdominal pain ORPHANET:428 CASR 846 HP:0004349 Reduced bone mineral density ORPHANET:428 CASR 846 HP:0007400 Irregular hyperpigmentation ORPHANET:428 CASR 846 HP:0003457 EMG abnormality OMIM:173850 PVR 5817 HP:0000006 Autosomal dominant inheritance OMIM:173850 PVR 5817 HP:0002715 Abnormality of the immune system OMIM:607903 DSG4 147409 HP:0007502 Follicular hyperkeratosis OMIM:607903 DSG4 147409 HP:0010783 Erythema OMIM:607903 DSG4 147409 HP:0000535 Sparse eyebrow OMIM:607903 DSG4 147409 HP:0000007 Autosomal recessive inheritance OMIM:607903 DSG4 147409 HP:0001006 Hypotrichosis OMIM:607903 DSG4 147409 HP:0002299 Brittle hair OMIM:607903 DSG4 147409 HP:0000653 Sparse eyelashes OMIM:607903 DSG4 147409 HP:0003777 Pili torti OMIM:607903 DSG4 147409 HP:0000989 Pruritus ORPHANET:2671 PSAT1 29968 HP:0001769 Broad foot ORPHANET:2671 PSAT1 29968 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:2671 PSAT1 29968 HP:0002650 Scoliosis ORPHANET:2671 PSAT1 29968 HP:0002983 Micromelia ORPHANET:2671 PSAT1 29968 HP:0000036 Abnormality of the penis ORPHANET:2671 PSAT1 29968 HP:0001059 Pterygium ORPHANET:2671 PSAT1 29968 HP:0002564 Malformation of the heart and great vessels ORPHANET:2671 PSAT1 29968 HP:0000269 Prominent occiput ORPHANET:2671 PSAT1 29968 HP:0001176 Large hands ORPHANET:2671 PSAT1 29968 HP:0000252 Microcephaly ORPHANET:2671 PSAT1 29968 HP:0000316 Hypertelorism ORPHANET:2671 PSAT1 29968 HP:0001305 Dandy-Walker malformation ORPHANET:2671 PSAT1 29968 HP:0000457 Depressed nasal ridge ORPHANET:2671 PSAT1 29968 HP:0008064 Ichthyosis ORPHANET:2671 PSAT1 29968 HP:0002269 Abnormality of neuronal migration ORPHANET:2671 PSAT1 29968 HP:0000347 Micrognathia ORPHANET:2671 PSAT1 29968 HP:0001561 Polyhydramnios ORPHANET:2671 PSAT1 29968 HP:0002414 Spina bifida ORPHANET:2671 PSAT1 29968 HP:0000204 Cleft upper lip ORPHANET:2671 PSAT1 29968 HP:0001557 Prenatal movement abnormality ORPHANET:2671 PSAT1 29968 HP:0100679 Lack of skin elasticity ORPHANET:2671 PSAT1 29968 HP:0000340 Sloping forehead ORPHANET:2671 PSAT1 29968 HP:0000518 Cataract ORPHANET:2671 PSAT1 29968 HP:0000400 Macrotia ORPHANET:2671 PSAT1 29968 HP:0001511 Intrauterine growth retardation ORPHANET:2671 PSAT1 29968 HP:0002514 Cerebral calcification ORPHANET:2671 PSAT1 29968 HP:0004349 Reduced bone mineral density ORPHANET:2671 PSAT1 29968 HP:0000175 Cleft palate ORPHANET:2671 PSAT1 29968 HP:0000062 Ambiguous genitalia ORPHANET:2671 PSAT1 29968 HP:0002804 Arthrogryposis multiplex congenita ORPHANET:2671 PSAT1 29968 HP:0003202 Skeletal muscle atrophy ORPHANET:2671 PSAT1 29968 HP:0006703 Aplasia/Hypoplasia of the lungs ORPHANET:2671 PSAT1 29968 HP:0000520 Proptosis ORPHANET:2671 PSAT1 29968 HP:0000232 Everted lower lip vermilion ORPHANET:2671 PSAT1 29968 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2671 PSAT1 29968 HP:0000179 Thick lower lip vermilion ORPHANET:2671 PSAT1 29968 HP:0002813 Abnormality of limb bone morphology ORPHANET:2671 PHGDH 26227 HP:0001769 Broad foot ORPHANET:2671 PHGDH 26227 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:2671 PHGDH 26227 HP:0002650 Scoliosis ORPHANET:2671 PHGDH 26227 HP:0002983 Micromelia ORPHANET:2671 PHGDH 26227 HP:0000036 Abnormality of the penis ORPHANET:2671 PHGDH 26227 HP:0001059 Pterygium ORPHANET:2671 PHGDH 26227 HP:0002564 Malformation of the heart and great vessels ORPHANET:2671 PHGDH 26227 HP:0000269 Prominent occiput ORPHANET:2671 PHGDH 26227 HP:0001176 Large hands ORPHANET:2671 PHGDH 26227 HP:0000252 Microcephaly ORPHANET:2671 PHGDH 26227 HP:0000316 Hypertelorism ORPHANET:2671 PHGDH 26227 HP:0001305 Dandy-Walker malformation ORPHANET:2671 PHGDH 26227 HP:0000457 Depressed nasal ridge ORPHANET:2671 PHGDH 26227 HP:0008064 Ichthyosis ORPHANET:2671 PHGDH 26227 HP:0002269 Abnormality of neuronal migration ORPHANET:2671 PHGDH 26227 HP:0000347 Micrognathia ORPHANET:2671 PHGDH 26227 HP:0001561 Polyhydramnios ORPHANET:2671 PHGDH 26227 HP:0002414 Spina bifida ORPHANET:2671 PHGDH 26227 HP:0000204 Cleft upper lip ORPHANET:2671 PHGDH 26227 HP:0001557 Prenatal movement abnormality ORPHANET:2671 PHGDH 26227 HP:0100679 Lack of skin elasticity ORPHANET:2671 PHGDH 26227 HP:0000340 Sloping forehead ORPHANET:2671 PHGDH 26227 HP:0000518 Cataract ORPHANET:2671 PHGDH 26227 HP:0000400 Macrotia ORPHANET:2671 PHGDH 26227 HP:0001511 Intrauterine growth retardation ORPHANET:2671 PHGDH 26227 HP:0002514 Cerebral calcification ORPHANET:2671 PHGDH 26227 HP:0004349 Reduced bone mineral density ORPHANET:2671 PHGDH 26227 HP:0000175 Cleft palate ORPHANET:2671 PHGDH 26227 HP:0000062 Ambiguous genitalia ORPHANET:2671 PHGDH 26227 HP:0002804 Arthrogryposis multiplex congenita ORPHANET:2671 PHGDH 26227 HP:0003202 Skeletal muscle atrophy ORPHANET:2671 PHGDH 26227 HP:0006703 Aplasia/Hypoplasia of the lungs ORPHANET:2671 PHGDH 26227 HP:0000520 Proptosis ORPHANET:2671 PHGDH 26227 HP:0000232 Everted lower lip vermilion ORPHANET:2671 PHGDH 26227 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2671 PHGDH 26227 HP:0000179 Thick lower lip vermilion ORPHANET:2671 PHGDH 26227 HP:0002813 Abnormality of limb bone morphology OMIM:203740 OGDH 4967 HP:0002151 Increased serum lactate OMIM:203740 OGDH 4967 HP:0004322 Short stature OMIM:203740 OGDH 4967 HP:0001276 Hypertonia OMIM:203740 OGDH 4967 HP:0010286 Abnormality of the salivary glands OMIM:203740 OGDH 4967 HP:0003819 Death in childhood OMIM:203740 OGDH 4967 HP:0004902 Congenital lactic acidosis OMIM:203740 OGDH 4967 HP:0001252 Muscular hypotonia OMIM:203740 OGDH 4967 HP:0000238 Hydrocephalus OMIM:203740 OGDH 4967 HP:0100022 Abnormality of movement OMIM:203740 OGDH 4967 HP:0002311 Incoordination OMIM:203740 OGDH 4967 HP:0001942 Metabolic acidosis OMIM:203740 OGDH 4967 HP:0000007 Autosomal recessive inheritance OMIM:203740 OGDH 4967 HP:0003202 Skeletal muscle atrophy OMIM:203740 OGDH 4967 HP:0100543 Cognitive impairment OMIM:611771 APOE 348 HP:0000083 Renal insufficiency OMIM:611771 APOE 348 HP:0001966 Mesangial abnormality OMIM:611771 APOE 348 HP:0000093 Proteinuria OMIM:611771 APOE 348 HP:0100820 Glomerulopathy OMIM:616291 SLC9A1 6548 HP:0002070 Limb ataxia OMIM:616291 SLC9A1 6548 HP:0002075 Dysdiadochokinesis OMIM:616291 SLC9A1 6548 HP:0001272 Cerebellar atrophy OMIM:616291 SLC9A1 6548 HP:0004322 Short stature OMIM:616291 SLC9A1 6548 HP:0001270 Motor delay OMIM:616291 SLC9A1 6548 HP:0002345 Action tremor OMIM:616291 SLC9A1 6548 HP:0002066 Gait ataxia OMIM:616291 SLC9A1 6548 HP:0001260 Dysarthria OMIM:616291 SLC9A1 6548 HP:0000639 Nystagmus OMIM:616291 SLC9A1 6548 HP:0001310 Dysmetria OMIM:305660 GABRA3 2556 HP:0001417 X-linked inheritance ORPHANET:228415 NSD1 64324 HP:0000545 Myopia ORPHANET:228415 NSD1 64324 HP:0100543 Cognitive impairment ORPHANET:228415 NSD1 64324 HP:0002750 Delayed skeletal maturation ORPHANET:228415 NSD1 64324 HP:0000708 Behavioral abnormality ORPHANET:228415 NSD1 64324 HP:0004322 Short stature ORPHANET:228415 NSD1 64324 HP:0000252 Microcephaly OMIM:616007 IARS2 55699 HP:0000938 Osteopenia OMIM:616007 IARS2 55699 HP:0002936 Distal sensory impairment OMIM:616007 IARS2 55699 HP:0000518 Cataract OMIM:616007 IARS2 55699 HP:0000639 Nystagmus OMIM:616007 IARS2 55699 HP:0001371 Flexion contracture OMIM:616007 IARS2 55699 HP:0000343 Long philtrum OMIM:616007 IARS2 55699 HP:0001374 Congenital hip dislocation OMIM:616007 IARS2 55699 HP:0007141 Sensorimotor neuropathy OMIM:616007 IARS2 55699 HP:0005280 Depressed nasal bridge OMIM:616007 IARS2 55699 HP:0001270 Motor delay OMIM:616007 IARS2 55699 HP:0000824 Growth hormone deficiency OMIM:616007 IARS2 55699 HP:0004322 Short stature OMIM:616007 IARS2 55699 HP:0000407 Sensorineural hearing impairment OMIM:616007 IARS2 55699 HP:0001265 Hyporeflexia OMIM:616007 IARS2 55699 HP:0002650 Scoliosis OMIM:616007 IARS2 55699 HP:0003416 Spinal canal stenosis OMIM:609270 TPP1 1200 HP:0002312 Clumsiness OMIM:609270 TPP1 1200 HP:0000639 Nystagmus OMIM:609270 TPP1 1200 HP:0001347 Hyperreflexia OMIM:609270 TPP1 1200 HP:0001260 Dysarthria OMIM:609270 TPP1 1200 HP:0001251 Ataxia OMIM:609270 TPP1 1200 HP:0002066 Gait ataxia OMIM:609270 TPP1 1200 HP:0003677 Slow progression OMIM:609270 TPP1 1200 HP:0002070 Limb ataxia OMIM:609270 TPP1 1200 HP:0003621 Juvenile onset OMIM:609270 TPP1 1200 HP:0000651 Diplopia OMIM:609270 TPP1 1200 HP:0000007 Autosomal recessive inheritance OMIM:609270 TPP1 1200 HP:0001152 Saccadic smooth pursuit OMIM:609270 TPP1 1200 HP:0001272 Cerebellar atrophy OMIM:609270 TPP1 1200 HP:0007338 Hypermetric saccades OMIM:609270 TPP1 1200 HP:0003487 Babinski sign OMIM:609270 TPP1 1200 HP:0002174 Postural tremor OMIM:609270 TPP1 1200 HP:0002495 Impaired vibratory sensation OMIM:613254 TSC2 7249 HP:0009729 Cardiac rhabdomyoma OMIM:613254 TSC2 7249 HP:0003812 Phenotypic variability OMIM:613254 TSC2 7249 HP:0009592 Astrocytoma OMIM:613254 TSC2 7249 HP:0000717 Autism OMIM:613254 TSC2 7249 HP:0001482 Subcutaneous nodule OMIM:613254 TSC2 7249 HP:0001716 Wolff-Parkinson-White syndrome OMIM:613254 TSC2 7249 HP:0001249 Intellectual disability OMIM:613254 TSC2 7249 HP:0000107 Renal cyst OMIM:613254 TSC2 7249 HP:0005584 Renal cell carcinoma OMIM:613254 TSC2 7249 HP:0006772 Renal angiomyolipoma OMIM:613254 TSC2 7249 HP:0007018 Attention deficit hyperactivity disorder OMIM:613254 TSC2 7249 HP:0009727 Achromatic retinal patches OMIM:613254 TSC2 7249 HP:0000821 Hypothyroidism OMIM:613254 TSC2 7249 HP:0012469 Infantile spasms OMIM:613254 TSC2 7249 HP:0000957 Cafe-au-lait spot OMIM:613254 TSC2 7249 HP:0009734 Optic glioma OMIM:613254 TSC2 7249 HP:0002514 Cerebral calcification OMIM:613254 TSC2 7249 HP:0009724 Subungual fibromas OMIM:613254 TSC2 7249 HP:0000006 Autosomal dominant inheritance OMIM:613254 TSC2 7249 HP:0000826 Precocious puberty OMIM:613254 TSC2 7249 HP:0002888 Ependymoma OMIM:613254 TSC2 7249 HP:0001328 Specific learning disability OMIM:613254 TSC2 7249 HP:0009717 Cortical tubers OMIM:613254 TSC2 7249 HP:0009721 Shagreen patch OMIM:613254 TSC2 7249 HP:0010762 Chordoma OMIM:613254 TSC2 7249 HP:0000169 Gingival fibromatosis OMIM:613254 TSC2 7249 HP:0009720 Adenoma sebaceum OMIM:613254 TSC2 7249 HP:0009716 Subependymal nodules ORPHANET:2343 ERF 2077 HP:0002652 Skeletal dysplasia ORPHANET:2343 ERF 2077 HP:0001363 Craniosynostosis ORPHANET:2343 ERF 2077 HP:0000520 Proptosis ORPHANET:2343 ERF 2077 HP:0000444 Convex nasal ridge ORPHANET:2343 ERF 2077 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2343 ERF 2077 HP:0100543 Cognitive impairment ORPHANET:2343 ERF 2077 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:2343 ERF 2077 HP:0000348 High forehead ORPHANET:2343 ERF 2077 HP:0006101 Finger syndactyly ORPHANET:2343 ERF 2077 HP:0001376 Limitation of joint mobility ORPHANET:2343 ERF 2077 HP:0000272 Malar flattening OMIM:613157 POMGNT1 55624 HP:0003391 Gowers sign OMIM:613157 POMGNT1 55624 HP:0003676 Progressive disorder OMIM:613157 POMGNT1 55624 HP:0000545 Myopia OMIM:613157 POMGNT1 55624 HP:0003712 Skeletal muscle hypertrophy OMIM:613157 POMGNT1 55624 HP:0003560 Muscular dystrophy OMIM:613157 POMGNT1 55624 HP:0012378 Fatigue OMIM:613157 POMGNT1 55624 HP:0003236 Elevated serum creatine phosphokinase OMIM:613157 POMGNT1 55624 HP:0000007 Autosomal recessive inheritance OMIM:613157 POMGNT1 55624 HP:0003307 Hyperlordosis OMIM:613157 POMGNT1 55624 HP:0001270 Motor delay OMIM:613157 POMGNT1 55624 HP:0003551 Difficulty climbing stairs OMIM:277600 ADAMTS10 81794 HP:0009768 Broad phalanges of the hand OMIM:277600 ADAMTS10 81794 HP:0002650 Scoliosis OMIM:277600 ADAMTS10 81794 HP:0000189 Narrow palate OMIM:277600 ADAMTS10 81794 HP:0001642 Pulmonic stenosis OMIM:277600 ADAMTS10 81794 HP:0001629 Ventricular septal defect OMIM:277600 ADAMTS10 81794 HP:0005280 Depressed nasal bridge OMIM:277600 ADAMTS10 81794 HP:0003416 Spinal canal stenosis OMIM:277600 ADAMTS10 81794 HP:0000248 Brachycephaly OMIM:277600 ADAMTS10 81794 HP:0000692 Misalignment of teeth OMIM:277600 ADAMTS10 81794 HP:0000327 Hypoplasia of the maxilla OMIM:277600 ADAMTS10 81794 HP:0001783 Broad metatarsal OMIM:277600 ADAMTS10 81794 HP:0000885 Broad ribs OMIM:277600 ADAMTS10 81794 HP:0001653 Mitral regurgitation OMIM:277600 ADAMTS10 81794 HP:0001169 Broad palm OMIM:277600 ADAMTS10 81794 HP:0001650 Aortic valve stenosis OMIM:277600 ADAMTS10 81794 HP:0000618 Blindness OMIM:277600 ADAMTS10 81794 HP:0000501 Glaucoma OMIM:277600 ADAMTS10 81794 HP:0000586 Shallow orbits OMIM:277600 ADAMTS10 81794 HP:0003508 Proportionate short stature OMIM:277600 ADAMTS10 81794 HP:0001083 Ectopia lentis OMIM:277600 ADAMTS10 81794 HP:0006482 Abnormality of dental morphology OMIM:277600 ADAMTS10 81794 HP:0000518 Cataract OMIM:277600 ADAMTS10 81794 HP:0001256 Intellectual disability, mild OMIM:277600 ADAMTS10 81794 HP:0002682 Broad skull OMIM:277600 ADAMTS10 81794 HP:0000007 Autosomal recessive inheritance OMIM:277600 ADAMTS10 81794 HP:0001156 Brachydactyly syndrome OMIM:277600 ADAMTS10 81794 HP:0000594 Shallow anterior chamber OMIM:277600 ADAMTS10 81794 HP:0001387 Joint stiffness OMIM:277600 ADAMTS10 81794 HP:0002938 Lumbar hyperlordosis OMIM:277600 ADAMTS10 81794 HP:0011003 Severe Myopia OMIM:277600 ADAMTS10 81794 HP:0002753 Thin bony cortex OMIM:277600 ADAMTS10 81794 HP:0001230 Broad metacarpals OMIM:277600 ADAMTS10 81794 HP:0001643 Patent ductus arteriosus OMIM:219050 RXFP2 122042 HP:0012741 Unilateral cryptorchidism OMIM:219050 RXFP2 122042 HP:0000104 Renal agenesis OMIM:219050 INSL3 3640 HP:0012741 Unilateral cryptorchidism OMIM:219050 INSL3 3640 HP:0000104 Renal agenesis OMIM:613192 TRAPPC9 83696 HP:0000470 Short neck OMIM:613192 TRAPPC9 83696 HP:0000316 Hypertelorism OMIM:613192 TRAPPC9 83696 HP:0002714 Downturned corners of mouth OMIM:613192 TRAPPC9 83696 HP:0001250 Seizures OMIM:613192 TRAPPC9 83696 HP:0002079 Hypoplasia of the corpus callosum OMIM:613192 TRAPPC9 83696 HP:0005484 Postnatal microcephaly OMIM:613192 TRAPPC9 83696 HP:0000319 Smooth philtrum OMIM:613192 TRAPPC9 83696 HP:0000664 Synophrys OMIM:613192 TRAPPC9 83696 HP:0001956 Truncal obesity OMIM:613192 TRAPPC9 83696 HP:0003593 Infantile onset OMIM:613192 TRAPPC9 83696 HP:0001249 Intellectual disability OMIM:613192 TRAPPC9 83696 HP:0000752 Hyperactivity OMIM:613192 TRAPPC9 83696 HP:0000007 Autosomal recessive inheritance OMIM:613192 TRAPPC9 83696 HP:0002334 Abnormality of the cerebellar vermis OMIM:613192 TRAPPC9 83696 HP:0000322 Short philtrum OMIM:613192 TRAPPC9 83696 HP:0000431 Wide nasal bridge OMIM:613192 TRAPPC9 83696 HP:0000601 Hypotelorism OMIM:613192 TRAPPC9 83696 HP:0000204 Cleft upper lip OMIM:312870 GPC3 2719 HP:0000154 Wide mouth OMIM:312870 GPC3 2719 HP:0000767 Pectus excavatum OMIM:312870 GPC3 2719 HP:0000776 Congenital diaphragmatic hernia OMIM:312870 GPC3 2719 HP:0001629 Ventricular septal defect OMIM:312870 GPC3 2719 HP:0001252 Muscular hypotonia OMIM:312870 GPC3 2719 HP:0002869 Flared iliac wings OMIM:312870 GPC3 2719 HP:0000175 Cleft palate OMIM:312870 GPC3 2719 HP:0002650 Scoliosis OMIM:312870 GPC3 2719 HP:0002566 Intestinal malrotation OMIM:312870 GPC3 2719 HP:0002167 Neurological speech impairment OMIM:312870 GPC3 2719 HP:0000028 Cryptorchidism OMIM:312870 GPC3 2719 HP:0001169 Broad palm OMIM:312870 GPC3 2719 HP:0003196 Short nose OMIM:312870 GPC3 2719 HP:0000158 Macroglossia OMIM:312870 GPC3 2719 HP:0001748 Polysplenia OMIM:312870 GPC3 2719 HP:0002240 Hepatomegaly OMIM:312870 GPC3 2719 HP:0000465 Webbed neck OMIM:312870 GPC3 2719 HP:0000280 Coarse facial features OMIM:312870 GPC3 2719 HP:0100627 Displacement of the external urethral meatus OMIM:312870 GPC3 2719 HP:0003517 Birth length greater than 97th percentile OMIM:312870 GPC3 2719 HP:0000105 Enlarged kidneys OMIM:312870 GPC3 2719 HP:0000216 Broad secondary alveolar ridge OMIM:312870 GPC3 2719 HP:0008803 Narrow sacroiliac notch OMIM:312870 GPC3 2719 HP:0004209 Clinodactyly of the 5th finger OMIM:312870 GPC3 2719 HP:0002558 Supernumerary nipple OMIM:312870 GPC3 2719 HP:0005280 Depressed nasal bridge OMIM:312870 GPC3 2719 HP:0000303 Mandibular prognathia OMIM:312870 GPC3 2719 HP:0006101 Finger syndactyly OMIM:312870 GPC3 2719 HP:0000286 Epicanthus OMIM:312870 GPC3 2719 HP:0006176 Two carpal ossification centers present at birth OMIM:312870 GPC3 2719 HP:0001537 Umbilical hernia OMIM:312870 GPC3 2719 HP:0000384 Preauricular skin tag OMIM:312870 GPC3 2719 HP:0000107 Renal cyst OMIM:312870 GPC3 2719 HP:0000891 Cervical ribs OMIM:312870 GPC3 2719 HP:0003422 Vertebral segmentation defect OMIM:312870 GPC3 2719 HP:0005616 Accelerated skeletal maturation OMIM:312870 GPC3 2719 HP:0001638 Cardiomyopathy OMIM:312870 GPC3 2719 HP:0000069 Abnormality of the ureter OMIM:312870 GPC3 2719 HP:0001250 Seizures OMIM:312870 GPC3 2719 HP:0001643 Patent ductus arteriosus OMIM:312870 GPC3 2719 HP:0001231 Abnormality of the fingernails OMIM:312870 GPC3 2719 HP:0001162 Postaxial hand polydactyly OMIM:312870 GPC3 2719 HP:0001769 Broad foot OMIM:312870 GPC3 2719 HP:0011039 Abnormality of the helix OMIM:312870 GPC3 2719 HP:0002667 Nephroblastoma (Wilms tumor) OMIM:312870 GPC3 2719 HP:0000204 Cleft upper lip OMIM:312870 GPC3 2719 HP:0001305 Dandy-Walker malformation OMIM:312870 GPC3 2719 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature OMIM:312870 GPC3 2719 HP:0000238 Hydrocephalus OMIM:312870 GPC3 2719 HP:0001837 Broad toe OMIM:312870 GPC3 2719 HP:0011675 Arrhythmia OMIM:312870 GPC3 2719 HP:0000365 Hearing impairment OMIM:312870 GPC3 2719 HP:0011304 Broad thumb OMIM:312870 GPC3 2719 HP:0000098 Tall stature OMIM:312870 GPC3 2719 HP:0001233 2-3 finger syndactyly OMIM:312870 GPC3 2719 HP:0000470 Short neck OMIM:312870 GPC3 2719 HP:0000463 Anteverted nares OMIM:312870 GPC3 2719 HP:0001792 Small nail OMIM:312870 GPC3 2719 HP:0004510 Pancreatic islet-cell hyperplasia OMIM:312870 GPC3 2719 HP:0000772 Abnormality of the ribs OMIM:312870 GPC3 2719 HP:0001631 Defect in the atrial septum OMIM:312870 GPC3 2719 HP:0001744 Splenomegaly OMIM:312870 GPC3 2719 HP:0000494 Downslanted palpebral fissures OMIM:312870 GPC3 2719 HP:0006525 Lung segmentation defects OMIM:312870 GPC3 2719 HP:0005580 Duplication of renal pelvis OMIM:312870 GPC3 2719 HP:0001608 Abnormality of the voice OMIM:312870 GPC3 2719 HP:0003006 Neuroblastoma OMIM:312870 GPC3 2719 HP:0001773 Short foot OMIM:312870 GPC3 2719 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:312870 GPC3 2719 HP:0000316 Hypertelorism OMIM:312870 GPC3 2719 HP:0000157 Abnormality of the tongue OMIM:312870 GPC3 2719 HP:0001883 Talipes OMIM:312870 GPC3 2719 HP:0009882 Short distal phalanx of finger OMIM:312870 GPC3 2719 HP:0003185 Short sacroiliac notch OMIM:312870 GPC3 2719 HP:0000689 Dental malocclusion OMIM:312870 GPC3 2719 HP:0009602 Abnormality of thumb phalanx OMIM:312870 GPC3 2719 HP:0004279 Short palm OMIM:312870 GPC3 2719 HP:0000023 Inguinal hernia OMIM:312870 GPC3 2719 HP:0001762 Talipes equinovarus OMIM:312870 GPC3 2719 HP:0001539 Omphalocele OMIM:312870 GPC3 2719 HP:0001770 Toe syndactyly OMIM:312870 GPC3 2719 HP:0000368 Low-set, posteriorly rotated ears OMIM:312870 GPC3 2719 HP:0000003 Multicystic kidney dysplasia OMIM:312870 GPC3 2719 HP:0000256 Macrocephaly OMIM:312870 GPC3 2719 HP:0100543 Cognitive impairment OMIM:312870 GPC3 2719 HP:0009101 Submucous cleft lip OMIM:312870 GPC3 2719 HP:0001669 Transposition of the great arteries OMIM:312870 GPC3 2719 HP:0001943 Hypoglycemia OMIM:312870 GPC3 2719 HP:0001639 Hypertrophic cardiomyopathy OMIM:312870 GPC3 2719 HP:0001540 Diastasis recti OMIM:312870 GPC3 2719 HP:0001831 Short toe OMIM:312870 GPC3 2719 HP:0008736 Hypoplasia of penis OMIM:312870 GPC3 2719 HP:0008416 Six lumbar vertebrae OMIM:312870 GPC3 2719 HP:0004467 Preauricular pit OMIM:312870 GPC3 2719 HP:0100490 Camptodactyly of finger OMIM:312870 GPC3 2719 HP:0002884 Hepatoblastoma OMIM:312870 GPC3 2719 HP:0000047 Hypospadias OMIM:312870 GPC3 2719 HP:0003312 Abnormal form of the vertebral bodies OMIM:312870 GPC3 2719 HP:0001642 Pulmonic stenosis OMIM:312870 GPC3 2719 HP:0002245 Meckel diverticulum OMIM:312870 GPC3 2719 HP:0001274 Agenesis of corpus callosum OMIM:312870 GPC3 2719 HP:0001320 Cerebellar vermis hypoplasia OMIM:312870 GPC3 2719 HP:0000431 Wide nasal bridge OMIM:312870 GPC3 2719 HP:0001419 X-linked recessive inheritance OMIM:312870 GPC3 2719 HP:0001732 Abnormality of the pancreas OMIM:312870 GPC3 2719 HP:0001561 Polyhydramnios OMIM:613693 KCNE2 9992 HP:0000006 Autosomal dominant inheritance OMIM:613693 KCNE2 9992 HP:0001657 Prolonged QT interval OMIM:613693 KCNE2 9992 HP:0001663 Ventricular fibrillation OMIM:613693 KCNE2 9992 HP:0001645 Sudden cardiac death OMIM:613693 KCNE2 9992 HP:0001664 Torsade de pointes OMIM:613693 KCNE2 9992 HP:0001279 Syncope OMIM:600110 ELOVL4 6785 HP:0011507 Macular flecks OMIM:600110 ELOVL4 6785 HP:0000007 Autosomal recessive inheritance OMIM:600110 ELOVL4 6785 HP:0000505 Visual impairment OMIM:600110 ELOVL4 6785 HP:0000006 Autosomal dominant inheritance OMIM:600110 ELOVL4 6785 HP:0007754 Macular dystrophy OMIM:310600 NDP 4693 HP:0001276 Hypertonia OMIM:310600 NDP 4693 HP:0000518 Cataract OMIM:310600 NDP 4693 HP:0000501 Glaucoma OMIM:310600 NDP 4693 HP:0000717 Autism OMIM:310600 NDP 4693 HP:0000568 Microphthalmos OMIM:310600 NDP 4693 HP:0000541 Retinal detachment OMIM:310600 NDP 4693 HP:0001324 Muscle weakness OMIM:310600 NDP 4693 HP:0000618 Blindness OMIM:310600 NDP 4693 HP:0100742 Vascular neoplasm OMIM:310600 NDP 4693 HP:0002650 Scoliosis OMIM:310600 NDP 4693 HP:0000407 Sensorineural hearing impairment OMIM:310600 NDP 4693 HP:0000738 Hallucinations OMIM:310600 NDP 4693 HP:0000601 Hypotelorism OMIM:310600 NDP 4693 HP:0010662 Abnormality of the diencephalon OMIM:310600 NDP 4693 HP:0100716 Self-injurious behavior OMIM:310600 NDP 4693 HP:0000028 Cryptorchidism OMIM:310600 NDP 4693 HP:0002360 Sleep disturbance OMIM:310600 NDP 4693 HP:0001083 Ectopia lentis OMIM:310600 NDP 4693 HP:0007833 Anterior chamber synechiae OMIM:310600 NDP 4693 HP:0007018 Attention deficit hyperactivity disorder OMIM:310600 NDP 4693 HP:0007676 Hypoplasia of the iris OMIM:310600 NDP 4693 HP:0001419 X-linked recessive inheritance OMIM:310600 NDP 4693 HP:0100639 Erectile abnormalities OMIM:310600 NDP 4693 HP:0000639 Nystagmus OMIM:310600 NDP 4693 HP:0002120 Cerebral cortical atrophy OMIM:310600 NDP 4693 HP:0004327 Abnormality of the vitreous humor OMIM:310600 NDP 4693 HP:0000726 Dementia OMIM:310600 NDP 4693 HP:0000733 Stereotypic behavior OMIM:310600 NDP 4693 HP:0000400 Macrotia OMIM:310600 NDP 4693 HP:0007973 Retinal dysplasia OMIM:310600 NDP 4693 HP:0011039 Abnormality of the helix OMIM:310600 NDP 4693 HP:0000252 Microcephaly OMIM:310600 NDP 4693 HP:0001252 Muscular hypotonia OMIM:310600 NDP 4693 HP:0010978 Abnormality of immune system physiology OMIM:310600 NDP 4693 HP:0000446 Narrow nasal bridge OMIM:310600 NDP 4693 HP:0000233 Thin vermilion border OMIM:310600 NDP 4693 HP:0002076 Migraine OMIM:310600 NDP 4693 HP:0008063 Aplasia/Hypoplasia of the lens OMIM:310600 NDP 4693 HP:0000648 Optic atrophy OMIM:310600 NDP 4693 HP:0007759 Opacification of the corneal stroma OMIM:310600 NDP 4693 HP:0006887 Intellectual disability, progressive OMIM:310600 NDP 4693 HP:0000647 Sclerocornea OMIM:310600 NDP 4693 HP:0005293 Venous insufficiency OMIM:310600 NDP 4693 HP:0000594 Shallow anterior chamber OMIM:310600 NDP 4693 HP:0000615 Abnormality of the pupil OMIM:310600 NDP 4693 HP:0100543 Cognitive impairment OMIM:310600 NDP 4693 HP:0001347 Hyperreflexia OMIM:310600 NDP 4693 HP:0010669 Cheekbone underdevelopment OMIM:310600 NDP 4693 HP:0002376 Developmental regression OMIM:310600 NDP 4693 HP:0002353 EEG abnormality OMIM:310600 NDP 4693 HP:0000819 Diabetes mellitus OMIM:310600 NDP 4693 HP:0008053 Aplasia/Hypoplasia of the iris OMIM:310600 NDP 4693 HP:0000490 Deeply set eye OMIM:310600 NDP 4693 HP:0001250 Seizures OMIM:310600 NDP 4693 HP:0000718 Aggressive behavior OMIM:310600 NDP 4693 HP:0004305 Involuntary movements OMIM:310600 NDP 4693 HP:0008046 Abnormality of the retinal vasculature OMIM:310600 NDP 4693 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:310600 NDP 4693 HP:0004325 Decreased body weight OMIM:310600 NDP 4693 HP:0100012 Neoplasm of the eye OMIM:310600 NDP 4693 HP:0000709 Psychosis OMIM:300752 ALAS2 212 HP:0002910 Elevated hepatic transaminases OMIM:300752 ALAS2 212 HP:0011463 Childhood onset OMIM:300752 ALAS2 212 HP:0001081 Cholelithiasis OMIM:300752 ALAS2 212 HP:0001891 Iron deficiency anemia OMIM:300752 ALAS2 212 HP:0001423 X-linked dominant inheritance OMIM:300752 ALAS2 212 HP:0012187 Increased erythrocyte protoporphyrin concentration OMIM:300752 ALAS2 212 HP:0000992 Cutaneous photosensitivity ORPHANET:1359 PRKAR1A 5573 HP:0004375 Neoplasm of the nervous system ORPHANET:1359 PRKAR1A 5573 HP:0000311 Round face ORPHANET:1359 PRKAR1A 5573 HP:0100013 Neoplasm of the breast ORPHANET:1359 PRKAR1A 5573 HP:0002637 Cerebral ischemia ORPHANET:1359 PRKAR1A 5573 HP:0001635 Congestive heart failure ORPHANET:1359 PRKAR1A 5573 HP:0009124 Abnormality of adipose tissue ORPHANET:1359 PRKAR1A 5573 HP:0000280 Coarse facial features ORPHANET:1359 PRKAR1A 5573 HP:0001824 Weight loss ORPHANET:1359 PRKAR1A 5573 HP:0100544 Neoplasm of the heart ORPHANET:1359 PRKAR1A 5573 HP:0001578 Hypercortisolism ORPHANET:1359 PRKAR1A 5573 HP:0000998 Hypertrichosis ORPHANET:1359 PRKAR1A 5573 HP:0100615 Ovarian neoplasm ORPHANET:1359 PRKAR1A 5573 HP:0001769 Broad foot ORPHANET:1359 PRKAR1A 5573 HP:0001176 Large hands ORPHANET:1359 PRKAR1A 5573 HP:0005978 Type II diabetes mellitus ORPHANET:1359 PRKAR1A 5573 HP:0100631 Neoplasm of the adrenal gland ORPHANET:1359 PRKAR1A 5573 HP:0100669 Abnormal pigmentation of the oral mucosa ORPHANET:1359 PRKAR1A 5573 HP:0002829 Arthralgia ORPHANET:1359 PRKAR1A 5573 HP:0003202 Skeletal muscle atrophy ORPHANET:1359 PRKAR1A 5573 HP:0010788 Testicular neoplasm ORPHANET:1359 PRKAR1A 5573 HP:0000963 Thin skin ORPHANET:1359 PRKAR1A 5573 HP:0002758 Osteoarthritis ORPHANET:1359 PRKAR1A 5573 HP:0000995 Melanocytic nevus ORPHANET:1359 PRKAR1A 5573 HP:0000826 Precocious puberty ORPHANET:1359 PRKAR1A 5573 HP:0000028 Cryptorchidism ORPHANET:1359 PRKAR1A 5573 HP:0000098 Tall stature ORPHANET:1359 PRKAR1A 5573 HP:0004349 Reduced bone mineral density ORPHANET:1359 PRKAR1A 5573 HP:0000771 Gynecomastia ORPHANET:1359 PRKAR1A 5573 HP:0100031 Neoplasm of the thyroid gland ORPHANET:1359 PRKAR1A 5573 HP:0000708 Behavioral abnormality ORPHANET:1359 PRKAR1A 5573 HP:0000822 Hypertension ORPHANET:1359 PRKAR1A 5573 HP:0000845 Growth hormone excess ORPHANET:1359 PRKAR1A 5573 HP:0001903 Anemia ORPHANET:1359 PRKAR1A 5573 HP:0001386 Joint swelling ORPHANET:1359 PRKAR1A 5573 HP:0001956 Truncal obesity ORPHANET:1359 PRKAR1A 5573 HP:0100543 Cognitive impairment ORPHANET:1359 PRKAR1A 5573 HP:0004370 Abnormality of temperature regulation ORPHANET:1359 PRKAR1A 5573 HP:0001718 Mitral stenosis ORPHANET:1359 PRKAR1A 5573 HP:0001065 Striae distensae ORPHANET:1359 PRKAR1A 5573 HP:0008069 Neoplasm of the skin ORPHANET:1359 PRKAR1A 5573 HP:0002808 Kyphosis ORPHANET:1359 PRKAR1A 5573 HP:0001645 Sudden cardiac death OMIM:105210 TTR 7276 HP:0001250 Seizures OMIM:105210 TTR 7276 HP:0000006 Autosomal dominant inheritance OMIM:105210 TTR 7276 HP:0000639 Nystagmus OMIM:105210 TTR 7276 HP:0001265 Hyporeflexia OMIM:105210 TTR 7276 HP:0000802 Impotence OMIM:105210 TTR 7276 HP:0003581 Adult onset OMIM:105210 TTR 7276 HP:0002401 Stroke-like episodes OMIM:105210 TTR 7276 HP:0001324 Muscle weakness OMIM:105210 TTR 7276 HP:0001269 Hemiparesis OMIM:105210 TTR 7276 HP:0002922 Increased CSF protein OMIM:105210 TTR 7276 HP:0003477 Peripheral axonal neuropathy OMIM:105210 TTR 7276 HP:0011034 Amyloidosis OMIM:105210 TTR 7276 HP:0001638 Cardiomyopathy OMIM:105210 TTR 7276 HP:0002315 Headache OMIM:105210 TTR 7276 HP:0000365 Hearing impairment OMIM:105210 TTR 7276 HP:0000726 Dementia OMIM:105210 TTR 7276 HP:0000020 Urinary incontinence OMIM:105210 TTR 7276 HP:0000505 Visual impairment OMIM:105210 TTR 7276 HP:0001271 Polyneuropathy OMIM:105210 TTR 7276 HP:0007841 Amyloid deposition in the vitreous humor OMIM:105210 TTR 7276 HP:0001260 Dysarthria OMIM:105210 TTR 7276 HP:0001337 Tremor OMIM:105210 TTR 7276 HP:0003676 Progressive disorder OMIM:105210 TTR 7276 HP:0002459 Dysautonomia OMIM:105210 TTR 7276 HP:0010550 Paraplegia OMIM:105210 TTR 7276 HP:0002014 Diarrhea OMIM:105210 TTR 7276 HP:0001640 Cardiomegaly OMIM:105210 TTR 7276 HP:0004926 Orthostatic hypotension due to autonomic dysfunction OMIM:105210 TTR 7276 HP:0003812 Phenotypic variability OMIM:105210 TTR 7276 HP:0001257 Spasticity OMIM:105210 TTR 7276 HP:0001251 Ataxia OMIM:105210 TTR 7276 HP:0002019 Constipation OMIM:615220 WNT1 7471 HP:0000592 Blue sclerae OMIM:615220 WNT1 7471 HP:0002650 Scoliosis OMIM:615220 WNT1 7471 HP:0000007 Autosomal recessive inheritance OMIM:615220 WNT1 7471 HP:0012110 Hypoplasia of the pons OMIM:615220 WNT1 7471 HP:0001263 Global developmental delay OMIM:615220 WNT1 7471 HP:0004322 Short stature OMIM:615220 WNT1 7471 HP:0000883 Thin ribs OMIM:615220 WNT1 7471 HP:0000926 Platyspondyly OMIM:300422 CASK 8573 HP:0002650 Scoliosis OMIM:300422 CASK 8573 HP:0000407 Sensorineural hearing impairment OMIM:300422 CASK 8573 HP:0011220 Prominent forehead OMIM:300422 CASK 8573 HP:0000431 Wide nasal bridge OMIM:300422 CASK 8573 HP:0000316 Hypertelorism OMIM:300422 CASK 8573 HP:0001250 Seizures OMIM:300422 CASK 8573 HP:0001263 Global developmental delay OMIM:300422 CASK 8573 HP:0001319 Neonatal hypotonia OMIM:300422 CASK 8573 HP:0001249 Intellectual disability OMIM:300422 CASK 8573 HP:0008872 Feeding difficulties in infancy OMIM:300422 CASK 8573 HP:0001417 X-linked inheritance OMIM:300537 FLNA 2316 HP:0000963 Thin skin OMIM:300537 FLNA 2316 HP:0001643 Patent ductus arteriosus OMIM:300537 FLNA 2316 HP:0001646 Abnormality of the aortic valve OMIM:300537 FLNA 2316 HP:0100790 Hernia OMIM:300537 FLNA 2316 HP:0002021 Pyloric stenosis OMIM:300537 FLNA 2316 HP:0001382 Joint hypermobility OMIM:300537 FLNA 2316 HP:0002011 Morphological abnormality of the central nervous system OMIM:300537 FLNA 2316 HP:0100543 Cognitive impairment OMIM:300537 FLNA 2316 HP:0002999 Patellar dislocation OMIM:300537 FLNA 2316 HP:0001250 Seizures OMIM:300537 FLNA 2316 HP:0002650 Scoliosis OMIM:300537 FLNA 2316 HP:0003834 Shoulder dislocation OMIM:300537 FLNA 2316 HP:0001928 Abnormality of coagulation OMIM:300537 FLNA 2316 HP:0005111 Dilatation of the ascending aorta OMIM:307000 L1CAM 3897 HP:0002410 Aqueductal stenosis OMIM:307000 L1CAM 3897 HP:0100543 Cognitive impairment OMIM:307000 L1CAM 3897 HP:0004374 Hemiplegia/hemiparesis OMIM:307000 L1CAM 3897 HP:0001250 Seizures OMIM:307000 L1CAM 3897 HP:0000256 Macrocephaly OMIM:307000 L1CAM 3897 HP:0000639 Nystagmus OMIM:307000 L1CAM 3897 HP:0009600 Flexion contracture of thumb OMIM:307000 L1CAM 3897 HP:0001181 Adducted thumb OMIM:307000 L1CAM 3897 HP:0000238 Hydrocephalus OMIM:307000 L1CAM 3897 HP:0001419 X-linked recessive inheritance OMIM:307000 L1CAM 3897 HP:0001258 Spastic paraplegia OMIM:307000 L1CAM 3897 HP:0000486 Strabismus OMIM:307000 L1CAM 3897 HP:0001274 Agenesis of corpus callosum OMIM:307000 L1CAM 3897 HP:0001331 Absent septum pellucidum OMIM:307000 L1CAM 3897 HP:0001360 Holoprosencephaly OMIM:307000 L1CAM 3897 HP:0007016 Corticospinal tract hypoplasia OMIM:307000 L1CAM 3897 HP:0001257 Spasticity OMIM:307000 L1CAM 3897 HP:0001249 Intellectual disability OMIM:307000 L1CAM 3897 HP:0002516 Increased intracranial pressure OMIM:307000 L1CAM 3897 HP:0001376 Limitation of joint mobility OMIM:307000 L1CAM 3897 HP:0000280 Coarse facial features ORPHANET:2440 WNT10B 7480 HP:0001171 Split hand ORPHANET:2440 WNT10B 7480 HP:0006101 Finger syndactyly ORPHANET:2440 WNT10B 7480 HP:0004050 Absent hand ORPHANET:2440 WNT10B 7480 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:2440 WNT10B 7480 HP:0000407 Sensorineural hearing impairment ORPHANET:2440 FBXW4 6468 HP:0001171 Split hand ORPHANET:2440 FBXW4 6468 HP:0006101 Finger syndactyly ORPHANET:2440 FBXW4 6468 HP:0004050 Absent hand ORPHANET:2440 FBXW4 6468 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:2440 FBXW4 6468 HP:0000407 Sensorineural hearing impairment ORPHANET:2440 DLX5 1749 HP:0001171 Split hand ORPHANET:2440 DLX5 1749 HP:0006101 Finger syndactyly ORPHANET:2440 DLX5 1749 HP:0004050 Absent hand ORPHANET:2440 DLX5 1749 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:2440 DLX5 1749 HP:0000407 Sensorineural hearing impairment ORPHANET:2440 SHFM1 7979 HP:0001171 Split hand ORPHANET:2440 SHFM1 7979 HP:0006101 Finger syndactyly ORPHANET:2440 SHFM1 7979 HP:0004050 Absent hand ORPHANET:2440 SHFM1 7979 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:2440 SHFM1 7979 HP:0000407 Sensorineural hearing impairment ORPHANET:2440 TP63 8626 HP:0001171 Split hand ORPHANET:2440 TP63 8626 HP:0006101 Finger syndactyly ORPHANET:2440 TP63 8626 HP:0004050 Absent hand ORPHANET:2440 TP63 8626 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:2440 TP63 8626 HP:0000407 Sensorineural hearing impairment ORPHANET:2440 BTRC 8945 HP:0001171 Split hand ORPHANET:2440 BTRC 8945 HP:0006101 Finger syndactyly ORPHANET:2440 BTRC 8945 HP:0004050 Absent hand ORPHANET:2440 BTRC 8945 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:2440 BTRC 8945 HP:0000407 Sensorineural hearing impairment OMIM:236600 CCDC88C 440193 HP:0001250 Seizures OMIM:236600 CCDC88C 440193 HP:0000007 Autosomal recessive inheritance OMIM:236600 CCDC88C 440193 HP:0003577 Congenital onset OMIM:236600 CCDC88C 440193 HP:0001249 Intellectual disability OMIM:236600 CCDC88C 440193 HP:0000238 Hydrocephalus OMIM:236600 CCDC88C 440193 HP:0002119 Ventriculomegaly OMIM:127000 FAM111A 63901 HP:0000829 Hypoparathyroidism OMIM:127000 FAM111A 63901 HP:0001903 Anemia OMIM:127000 FAM111A 63901 HP:0008285 Transient hypophosphatemia OMIM:127000 FAM111A 63901 HP:0000006 Autosomal dominant inheritance OMIM:127000 FAM111A 63901 HP:0007862 Retinal calcification OMIM:127000 FAM111A 63901 HP:0003510 Severe short stature OMIM:127000 FAM111A 63901 HP:0000519 Congenital cataract OMIM:127000 FAM111A 63901 HP:0001476 Delayed closure of the anterior fontanelle OMIM:127000 FAM111A 63901 HP:0001518 Small for gestational age OMIM:127000 FAM111A 63901 HP:0001085 Papilledema OMIM:127000 FAM111A 63901 HP:0100253 Abnormality of the medullary cavity of the long bones OMIM:127000 FAM111A 63901 HP:0002901 Hypocalcemia OMIM:127000 FAM111A 63901 HP:0001620 High pitched voice OMIM:127000 FAM111A 63901 HP:0000540 Hypermetropia OMIM:127000 FAM111A 63901 HP:0000935 Thickened cortex of long bones OMIM:127000 FAM111A 63901 HP:0011001 Increased bone mineral density OMIM:127000 FAM111A 63901 HP:0000568 Microphthalmos OMIM:127000 FAM111A 63901 HP:0001250 Seizures OMIM:127000 FAM111A 63901 HP:0000256 Macrocephaly OMIM:127000 FAM111A 63901 HP:0002135 Basal ganglia calcification OMIM:127000 FAM111A 63901 HP:0011220 Prominent forehead OMIM:127000 FAM111A 63901 HP:0004322 Short stature OMIM:268700 AASS 10157 HP:0002927 Histidinuria OMIM:268700 AASS 10157 HP:0002353 EEG abnormality OMIM:268700 AASS 10157 HP:0001249 Intellectual disability OMIM:268700 AASS 10157 HP:0001264 Spastic diplegia OMIM:268700 AASS 10157 HP:0000007 Autosomal recessive inheritance OMIM:268700 AASS 10157 HP:0004322 Short stature OMIM:268700 AASS 10157 HP:0003297 Hyperlysinuria OMIM:615777 XYLT1 64131 HP:0001863 Toe clinodactyly OMIM:615777 XYLT1 64131 HP:0011304 Broad thumb OMIM:615777 XYLT1 64131 HP:0012368 Flat face OMIM:615777 XYLT1 64131 HP:0000311 Round face OMIM:615777 XYLT1 64131 HP:0004233 Advanced ossification of carpal bones OMIM:615777 XYLT1 64131 HP:0000520 Proptosis OMIM:615777 XYLT1 64131 HP:0000767 Pectus excavatum OMIM:615777 XYLT1 64131 HP:0000954 Single transverse palmar crease OMIM:615777 XYLT1 64131 HP:0001769 Broad foot OMIM:615777 XYLT1 64131 HP:0001956 Truncal obesity OMIM:615777 XYLT1 64131 HP:0003026 Short long bone OMIM:615777 XYLT1 64131 HP:0000175 Cleft palate OMIM:615777 XYLT1 64131 HP:0000894 Short clavicles OMIM:615777 XYLT1 64131 HP:0000774 Narrow chest OMIM:615777 XYLT1 64131 HP:0002673 Coxa valga OMIM:615777 XYLT1 64131 HP:0001249 Intellectual disability OMIM:615777 XYLT1 64131 HP:0000592 Blue sclerae OMIM:615777 XYLT1 64131 HP:0002656 Epiphyseal dysplasia OMIM:615777 XYLT1 64131 HP:0005280 Depressed nasal bridge OMIM:615777 XYLT1 64131 HP:0001763 Pes planus OMIM:615777 XYLT1 64131 HP:0004482 Relative macrocephaly OMIM:615777 XYLT1 64131 HP:0010049 Short metacarpal OMIM:615777 XYLT1 64131 HP:0001388 Joint laxity OMIM:615777 XYLT1 64131 HP:0001252 Muscular hypotonia OMIM:615777 XYLT1 64131 HP:0000343 Long philtrum OMIM:615777 XYLT1 64131 HP:0003016 Metaphyseal widening OMIM:615777 XYLT1 64131 HP:0004322 Short stature OMIM:615777 XYLT1 64131 HP:0000768 Pectus carinatum OMIM:203100 TYR 7299 HP:0000635 Blue irides OMIM:203100 TYR 7299 HP:0001480 Freckling OMIM:203100 TYR 7299 HP:0000648 Optic atrophy OMIM:203100 TYR 7299 HP:0001107 Ocular albinism OMIM:203100 TYR 7299 HP:0004349 Reduced bone mineral density OMIM:203100 TYR 7299 HP:0007750 Hypoplasia of the fovea OMIM:203100 TYR 7299 HP:0011364 White hair OMIM:203100 TYR 7299 HP:0000505 Visual impairment OMIM:203100 TYR 7299 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:203100 TYR 7299 HP:0007513 Generalized hypopigmentation OMIM:203100 TYR 7299 HP:0000639 Nystagmus OMIM:203100 TYR 7299 HP:0000962 Hyperkeratosis OMIM:203100 TYR 7299 HP:0000613 Photophobia OMIM:203100 TYR 7299 HP:0000486 Strabismus OMIM:203100 TYR 7299 HP:0003577 Congenital onset OMIM:203100 TYR 7299 HP:0000007 Autosomal recessive inheritance OMIM:203100 TYR 7299 HP:0200098 Absent skin pigmentation OMIM:203100 TYR 7299 HP:0000545 Myopia OMIM:203100 TYR 7299 HP:0001022 Albinism OMIM:203100 TYR 7299 HP:0008069 Neoplasm of the skin OMIM:203100 TYR 7299 HP:0000649 Abnormality of vision evoked potentials OMIM:203100 TYR 7299 HP:0000483 Astigmatism OMIM:614202 MAN1B1 11253 HP:0002342 Intellectual disability, moderate OMIM:614202 MAN1B1 11253 HP:0001263 Global developmental delay OMIM:614202 MAN1B1 11253 HP:0000322 Short philtrum OMIM:614202 MAN1B1 11253 HP:0001513 Obesity OMIM:614202 MAN1B1 11253 HP:0011229 Broad eyebrow OMIM:614202 MAN1B1 11253 HP:0000272 Malar flattening OMIM:614202 MAN1B1 11253 HP:0000319 Smooth philtrum OMIM:614202 MAN1B1 11253 HP:0000718 Aggressive behavior OMIM:614202 MAN1B1 11253 HP:0000276 Long face OMIM:614202 MAN1B1 11253 HP:0000431 Wide nasal bridge OMIM:614202 MAN1B1 11253 HP:0000494 Downslanted palpebral fissures OMIM:614202 MAN1B1 11253 HP:0004523 Long eyebrows OMIM:614202 MAN1B1 11253 HP:0000219 Thin upper lip vermilion OMIM:614202 MAN1B1 11253 HP:0000007 Autosomal recessive inheritance OMIM:614202 MAN1B1 11253 HP:0000268 Dolichocephaly OMIM:614202 MAN1B1 11253 HP:0000307 Pointed chin OMIM:614202 MAN1B1 11253 HP:0001250 Seizures OMIM:614202 MAN1B1 11253 HP:0000316 Hypertelorism OMIM:614202 MAN1B1 11253 HP:0000448 Prominent nose OMIM:105120 GSN 2934 HP:0001638 Cardiomyopathy OMIM:105120 GSN 2934 HP:0001283 Bulbar palsy OMIM:105120 GSN 2934 HP:0003581 Adult onset OMIM:105120 GSN 2934 HP:0003216 Generalized amyloid deposition OMIM:105120 GSN 2934 HP:0001271 Polyneuropathy OMIM:105120 GSN 2934 HP:0000006 Autosomal dominant inheritance OMIM:105120 GSN 2934 HP:0001149 Lattice corneal dystrophy OMIM:105120 GSN 2934 HP:0000100 Nephrotic syndrome OMIM:105120 GSN 2934 HP:0001438 Abnormality of the abdomen OMIM:105120 GSN 2934 HP:0000973 Cutis laxa OMIM:105120 GSN 2934 HP:0000083 Renal insufficiency OMIM:610377 MVK 4598 HP:0001263 Global developmental delay OMIM:610377 MVK 4598 HP:0003236 Elevated serum creatine phosphokinase OMIM:610377 MVK 4598 HP:0000518 Cataract OMIM:610377 MVK 4598 HP:0001252 Muscular hypotonia OMIM:610377 MVK 4598 HP:0001873 Thrombocytopenia OMIM:610377 MVK 4598 HP:0000252 Microcephaly OMIM:610377 MVK 4598 HP:0002716 Lymphadenopathy OMIM:610377 MVK 4598 HP:0002751 Kyphoscoliosis OMIM:610377 MVK 4598 HP:0001974 Leukocytosis OMIM:610377 MVK 4598 HP:0012072 Aciduria OMIM:610377 MVK 4598 HP:0000268 Dolichocephaly OMIM:610377 MVK 4598 HP:0002013 Vomiting OMIM:610377 MVK 4598 HP:0000592 Blue sclerae OMIM:610377 MVK 4598 HP:0000239 Large fontanelles OMIM:610377 MVK 4598 HP:0004322 Short stature OMIM:610377 MVK 4598 HP:0001250 Seizures OMIM:610377 MVK 4598 HP:0006268 Fluctuating splenomegaly OMIM:610377 MVK 4598 HP:0000639 Nystagmus OMIM:610377 MVK 4598 HP:0000988 Skin rash OMIM:610377 MVK 4598 HP:0000494 Downslanted palpebral fissures OMIM:610377 MVK 4598 HP:0002750 Delayed skeletal maturation OMIM:610377 MVK 4598 HP:0006564 Fluctuating hepatomegaly OMIM:610377 MVK 4598 HP:0012282 Morbilliform rash OMIM:610377 MVK 4598 HP:0000358 Posteriorly rotated ears OMIM:610377 MVK 4598 HP:0002335 Agenesis of cerebellar vermis OMIM:610377 MVK 4598 HP:0002120 Cerebral cortical atrophy OMIM:610377 MVK 4598 HP:0001744 Splenomegaly OMIM:610377 MVK 4598 HP:0004819 Normocytic hypoplastic anemia OMIM:610377 MVK 4598 HP:0000325 Triangular face OMIM:610377 MVK 4598 HP:0002311 Incoordination OMIM:610377 MVK 4598 HP:0100543 Cognitive impairment OMIM:610377 MVK 4598 HP:0002014 Diarrhea OMIM:610377 MVK 4598 HP:0002829 Arthralgia OMIM:610377 MVK 4598 HP:0001508 Failure to thrive OMIM:610377 MVK 4598 HP:0000368 Low-set, posteriorly rotated ears OMIM:610377 MVK 4598 HP:0000969 Edema OMIM:610377 MVK 4598 HP:0002059 Cerebral atrophy OMIM:610377 MVK 4598 HP:0001272 Cerebellar atrophy OMIM:610377 MVK 4598 HP:0000007 Autosomal recessive inheritance OMIM:610377 MVK 4598 HP:0002073 Progressive cerebellar ataxia OMIM:610377 MVK 4598 HP:0000369 Low-set ears OMIM:610377 MVK 4598 HP:0002910 Elevated hepatic transaminases OMIM:616369 CENPF 1063 HP:0000347 Micrognathia OMIM:616369 CENPF 1063 HP:0002247 Duodenal atresia OMIM:616369 CENPF 1063 HP:0000369 Low-set ears OMIM:616369 CENPF 1063 HP:0000238 Hydrocephalus OMIM:616369 CENPF 1063 HP:0000316 Hypertelorism OMIM:616369 CENPF 1063 HP:0000252 Microcephaly OMIM:616369 CENPF 1063 HP:0001274 Agenesis of corpus callosum OMIM:616369 CENPF 1063 HP:0000175 Cleft palate OMIM:616369 CENPF 1063 HP:0000426 Prominent nasal bridge OMIM:616369 CENPF 1063 HP:0001321 Cerebellar hypoplasia OMIM:616369 CENPF 1063 HP:0002000 Short columella OMIM:616369 CENPF 1063 HP:0000431 Wide nasal bridge ORPHANET:314918 ASPA 443 HP:0002360 Sleep disturbance ORPHANET:314918 ASPA 443 HP:0002167 Neurological speech impairment ORPHANET:314918 ASPA 443 HP:0007703 Abnormal retinal pigmentation ORPHANET:314918 ASPA 443 HP:0100543 Cognitive impairment OMIM:614378 WDR19 57728 HP:0009882 Short distal phalanx of finger OMIM:614378 WDR19 57728 HP:0001385 Hip dysplasia OMIM:614378 WDR19 57728 HP:0000007 Autosomal recessive inheritance OMIM:614378 WDR19 57728 HP:0000510 Retinitis pigmentosa OMIM:614378 WDR19 57728 HP:0000774 Narrow chest OMIM:614378 WDR19 57728 HP:0000968 Ectodermal dysplasia OMIM:614378 WDR19 57728 HP:0004442 Sagittal craniosynostosis OMIM:614378 WDR19 57728 HP:0000293 Full cheeks OMIM:614378 WDR19 57728 HP:0002007 Frontal bossing OMIM:614378 WDR19 57728 HP:0000233 Thin vermilion border OMIM:614378 WDR19 57728 HP:0009836 Broad distal phalanx of finger OMIM:614378 WDR19 57728 HP:0006532 Recurrent pneumonia OMIM:614378 WDR19 57728 HP:0000767 Pectus excavatum OMIM:614378 WDR19 57728 HP:0005528 Bone marrow hypocellularity OMIM:614378 WDR19 57728 HP:0001382 Joint hypermobility OMIM:614378 WDR19 57728 HP:0000540 Hypermetropia OMIM:614378 WDR19 57728 HP:0000112 Nephropathy OMIM:614378 WDR19 57728 HP:0010554 Cutaneous finger syndactyly OMIM:614378 WDR19 57728 HP:0000973 Cutis laxa OMIM:614378 WDR19 57728 HP:0000411 Protruding ear OMIM:614378 WDR19 57728 HP:0004322 Short stature OMIM:614378 WDR19 57728 HP:0003774 Stage 5 chronic kidney disease OMIM:614378 WDR19 57728 HP:0010174 Broad phalanx of the toes OMIM:614378 WDR19 57728 HP:0000319 Smooth philtrum ORPHANET:261250 ANKRD11 29123 HP:0002167 Neurological speech impairment ORPHANET:261250 ANKRD11 29123 HP:0000365 Hearing impairment ORPHANET:261250 ANKRD11 29123 HP:0000343 Long philtrum ORPHANET:261250 ANKRD11 29123 HP:0000341 Narrow forehead ORPHANET:261250 ANKRD11 29123 HP:0000325 Triangular face ORPHANET:261250 ANKRD11 29123 HP:0000483 Astigmatism ORPHANET:261250 ANKRD11 29123 HP:0000179 Thick lower lip vermilion ORPHANET:261250 ANKRD11 29123 HP:0000545 Myopia ORPHANET:261250 ANKRD11 29123 HP:0100543 Cognitive impairment ORPHANET:261250 ANKRD11 29123 HP:0000276 Long face ORPHANET:261250 ANKRD11 29123 HP:0000639 Nystagmus ORPHANET:261250 ANKRD11 29123 HP:0000384 Preauricular skin tag ORPHANET:261250 ANKRD11 29123 HP:0002007 Frontal bossing ORPHANET:261250 ANKRD11 29123 HP:0000348 High forehead ORPHANET:261250 ANKRD11 29123 HP:0002119 Ventriculomegaly ORPHANET:261250 ANKRD11 29123 HP:0000307 Pointed chin ORPHANET:261250 ANKRD11 29123 HP:0001629 Ventricular septal defect ORPHANET:261250 ANKRD11 29123 HP:0000463 Anteverted nares ORPHANET:261250 ANKRD11 29123 HP:0001633 Abnormality of the mitral valve ORPHANET:261250 ANKRD11 29123 HP:0000486 Strabismus ORPHANET:261250 ANKRD11 29123 HP:0000388 Otitis media ORPHANET:261250 ANKRD11 29123 HP:0002808 Kyphosis ORPHANET:261250 ANKRD11 29123 HP:0008872 Feeding difficulties in infancy ORPHANET:261250 ANKRD11 29123 HP:0006315 Single median maxillary incisor ORPHANET:261250 ANKRD11 29123 HP:0000505 Visual impairment ORPHANET:261250 ANKRD11 29123 HP:0000648 Optic atrophy ORPHANET:261250 ANKRD11 29123 HP:0000154 Wide mouth ORPHANET:261250 ANKRD11 29123 HP:0000717 Autism ORPHANET:261250 ANKRD11 29123 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:261250 ANKRD11 29123 HP:0003272 Abnormality of the hip bone ORPHANET:261250 ANKRD11 29123 HP:0001873 Thrombocytopenia ORPHANET:261250 ANKRD11 29123 HP:0000347 Micrognathia ORPHANET:261250 ANKRD11 29123 HP:0002269 Abnormality of neuronal migration ORPHANET:261250 ANKRD11 29123 HP:0009623 Proximal placement of thumb ORPHANET:261250 ANKRD11 29123 HP:0001250 Seizures ORPHANET:261250 ANKRD11 29123 HP:0000174 Abnormality of the palate ORPHANET:261250 ANKRD11 29123 HP:0002650 Scoliosis ORPHANET:261250 ANKRD11 29123 HP:0002553 Highly arched eyebrow ORPHANET:261250 ANKRD11 29123 HP:0001972 Macrocytic anemia ORPHANET:261250 ANKRD11 29123 HP:0000377 Abnormality of the pinna ORPHANET:261250 ANKRD11 29123 HP:0000582 Upslanted palpebral fissure ORPHANET:261250 ANKRD11 29123 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:261250 ANKRD11 29123 HP:0000028 Cryptorchidism OMIM:608864 IRF6 3664 HP:0000175 Cleft palate OMIM:608864 IRF6 3664 HP:0010982 Polygenic inheritance OMIM:608864 IRF6 3664 HP:0000204 Cleft upper lip OMIM:612955 SNTA1 6640 HP:0000006 Autosomal dominant inheritance OMIM:612955 SNTA1 6640 HP:0001664 Torsade de pointes OMIM:612955 SNTA1 6640 HP:0005184 Prolonged QTc interval OMIM:612955 SNTA1 6640 HP:0001279 Syncope OMIM:614609 SMARCA4 6597 HP:0001249 Intellectual disability OMIM:614609 SMARCA4 6597 HP:0001252 Muscular hypotonia OMIM:614609 SMARCA4 6597 HP:0001250 Seizures OMIM:614609 SMARCA4 6597 HP:0000252 Microcephaly OMIM:614609 SMARCA4 6597 HP:0001305 Dandy-Walker malformation OMIM:614609 SMARCA4 6597 HP:0001007 Hirsutism OMIM:614609 SMARCA4 6597 HP:0000006 Autosomal dominant inheritance OMIM:614609 SMARCA4 6597 HP:0000505 Visual impairment OMIM:614609 SMARCA4 6597 HP:0000574 Thick eyebrow OMIM:614609 SMARCA4 6597 HP:0002209 Sparse scalp hair OMIM:614609 SMARCA4 6597 HP:0000527 Long eyelashes OMIM:301500 GLA 2717 HP:0001903 Anemia OMIM:301500 GLA 2717 HP:0001635 Congestive heart failure OMIM:301500 GLA 2717 HP:0002829 Arthralgia OMIM:301500 GLA 2717 HP:0002326 Transient ischemic attack OMIM:301500 GLA 2717 HP:0000083 Renal insufficiency OMIM:301500 GLA 2717 HP:0006536 Obstructive lung disease OMIM:301500 GLA 2717 HP:0003401 Paresthesia OMIM:301500 GLA 2717 HP:0005144 Left ventricular septal hypertrophy OMIM:301500 GLA 2717 HP:0002014 Diarrhea OMIM:301500 GLA 2717 HP:0002459 Dysautonomia OMIM:301500 GLA 2717 HP:0000524 Conjunctival telangiectasia OMIM:301500 GLA 2717 HP:0002376 Developmental regression OMIM:301500 GLA 2717 HP:0001646 Abnormality of the aortic valve OMIM:301500 GLA 2717 HP:0002017 Nausea and vomiting OMIM:301500 GLA 2717 HP:0002097 Emphysema OMIM:301500 GLA 2717 HP:0003326 Myalgia OMIM:301500 GLA 2717 HP:0000790 Hematuria OMIM:301500 GLA 2717 HP:0001004 Lymphedema OMIM:301500 GLA 2717 HP:0001658 Myocardial infarction OMIM:301500 GLA 2717 HP:0000823 Delayed puberty OMIM:301500 GLA 2717 HP:0001131 Corneal dystrophy OMIM:301500 GLA 2717 HP:0000093 Proteinuria OMIM:301500 GLA 2717 HP:0011675 Arrhythmia OMIM:301500 GLA 2717 HP:0002637 Cerebral ischemia OMIM:301500 GLA 2717 HP:0001155 Abnormality of the hand OMIM:301500 GLA 2717 HP:0000518 Cataract OMIM:301500 GLA 2717 HP:0004322 Short stature OMIM:301500 GLA 2717 HP:0001419 X-linked recessive inheritance OMIM:301500 GLA 2717 HP:0100543 Cognitive impairment OMIM:301500 GLA 2717 HP:0004370 Abnormality of temperature regulation OMIM:301500 GLA 2717 HP:0000078 Abnormality of the genital system OMIM:301500 GLA 2717 HP:0100585 Teleangiectasia of the skin OMIM:301500 GLA 2717 HP:0002027 Abdominal pain OMIM:301500 GLA 2717 HP:0000100 Nephrotic syndrome OMIM:301500 GLA 2717 HP:0001677 Coronary artery disease OMIM:301500 GLA 2717 HP:0002018 Nausea OMIM:301500 GLA 2717 HP:0000822 Hypertension OMIM:301500 GLA 2717 HP:0000873 Diabetes insipidus OMIM:301500 GLA 2717 HP:0000962 Hyperkeratosis OMIM:301500 GLA 2717 HP:0000708 Behavioral abnormality OMIM:301500 GLA 2717 HP:0000179 Thick lower lip vermilion OMIM:301500 GLA 2717 HP:0001639 Hypertrophic cardiomyopathy OMIM:301500 GLA 2717 HP:0003621 Juvenile onset OMIM:301500 GLA 2717 HP:0100820 Glomerulopathy OMIM:301500 GLA 2717 HP:0000966 Hypohidrosis OMIM:301500 GLA 2717 HP:0002321 Vertigo OMIM:301500 GLA 2717 HP:0002823 Abnormality of the femur OMIM:301500 GLA 2717 HP:0002039 Anorexia OMIM:301500 GLA 2717 HP:0002013 Vomiting OMIM:301500 GLA 2717 HP:0001250 Seizures OMIM:301500 GLA 2717 HP:0012702 Tenesmus OMIM:301500 GLA 2717 HP:0006510 Chronic obstructive pulmonary disease OMIM:301500 GLA 2717 HP:0002380 Fasciculations OMIM:301500 GLA 2717 HP:0000112 Nephropathy OMIM:301500 GLA 2717 HP:0001014 Angiokeratoma OMIM:301500 GLA 2717 HP:0001633 Abnormality of the mitral valve OMIM:301500 GLA 2717 HP:0001681 Angina pectoris OMIM:301500 GLA 2717 HP:0007759 Opacification of the corneal stroma OMIM:301500 GLA 2717 HP:0001712 Left ventricular hypertrophy OMIM:301500 GLA 2717 HP:0004349 Reduced bone mineral density OMIM:301500 GLA 2717 HP:0000407 Sensorineural hearing impairment OMIM:301500 GLA 2717 HP:0000648 Optic atrophy OMIM:301500 GLA 2717 HP:0000280 Coarse facial features OMIM:301500 GLA 2717 HP:0003119 Abnormality of lipid metabolism OMIM:301500 GLA 2717 HP:0001369 Arthritis OMIM:301500 GLA 2717 HP:0002024 Malabsorption OMIM:301500 GLA 2717 HP:0003394 Muscle cramps OMIM:301500 GLA 2717 HP:0002093 Respiratory insufficiency OMIM:301500 GLA 2717 HP:0000091 Abnormality of the renal tubule OMIM:301500 GLA 2717 HP:0004306 Abnormality of the endocardium OMIM:212070 CPN1 1369 HP:0000007 Autosomal recessive inheritance OMIM:212070 CPN1 1369 HP:0000951 Abnormality of the skin OMIM:212070 CPN1 1369 HP:0001939 Abnormality of metabolism/homeostasis OMIM:304500 PRPS1 5631 HP:0001419 X-linked recessive inheritance OMIM:304500 PRPS1 5631 HP:0000407 Sensorineural hearing impairment OMIM:611391 BFSP1 631 HP:0000007 Autosomal recessive inheritance OMIM:611391 BFSP1 631 HP:0100019 Cortical cataract OMIM:101000 NF2 4771 HP:0002321 Vertigo OMIM:101000 NF2 4771 HP:0009595 Occasional neurofibromas OMIM:101000 NF2 4771 HP:0000407 Sensorineural hearing impairment OMIM:101000 NF2 4771 HP:0009590 Unilateral vestibular Schwannoma OMIM:101000 NF2 4771 HP:0009592 Astrocytoma OMIM:101000 NF2 4771 HP:0002311 Incoordination OMIM:101000 NF2 4771 HP:0007935 Juvenile posterior subcapsular lenticular opacities OMIM:101000 NF2 4771 HP:0002858 Meningioma OMIM:101000 NF2 4771 HP:0002076 Migraine OMIM:101000 NF2 4771 HP:0010628 Facial palsy OMIM:101000 NF2 4771 HP:0008046 Abnormality of the retinal vasculature OMIM:101000 NF2 4771 HP:0001251 Ataxia OMIM:101000 NF2 4771 HP:0007759 Opacification of the corneal stroma OMIM:101000 NF2 4771 HP:0009594 Retinal hamartoma OMIM:101000 NF2 4771 HP:0000957 Cafe-au-lait spot OMIM:101000 NF2 4771 HP:0008069 Neoplasm of the skin OMIM:101000 NF2 4771 HP:0000365 Hearing impairment OMIM:101000 NF2 4771 HP:0009830 Peripheral neuropathy OMIM:101000 NF2 4771 HP:0009733 Glioma OMIM:101000 NF2 4771 HP:0009593 Peripheral Schwannoma OMIM:101000 NF2 4771 HP:0007876 Juvenile cortical cataract OMIM:101000 NF2 4771 HP:0009589 Bilateral vestibular Schwannoma OMIM:101000 NF2 4771 HP:0000505 Visual impairment OMIM:101000 NF2 4771 HP:0000360 Tinnitus OMIM:101000 NF2 4771 HP:0002888 Ependymoma OMIM:101000 NF2 4771 HP:0000518 Cataract OMIM:101000 NF2 4771 HP:0100014 Epiretinal membrane OMIM:101000 NF2 4771 HP:0002516 Increased intracranial pressure OMIM:101000 NF2 4771 HP:0000006 Autosomal dominant inheritance OMIM:101000 NF2 4771 HP:0002315 Headache OMIM:101000 NF2 4771 HP:0001288 Gait disturbance OMIM:615771 TUBB 203068 HP:0002365 Hypoplasia of the brainstem OMIM:615771 TUBB 203068 HP:0007973 Retinal dysplasia OMIM:615771 TUBB 203068 HP:0001321 Cerebellar hypoplasia OMIM:615771 TUBB 203068 HP:0001263 Global developmental delay OMIM:615771 TUBB 203068 HP:0000252 Microcephaly OMIM:615771 TUBB 203068 HP:0000750 Delayed speech and language development OMIM:615771 TUBB 203068 HP:0002126 Polymicrogyria OMIM:615771 TUBB 203068 HP:0001251 Ataxia OMIM:615771 TUBB 203068 HP:0000568 Microphthalmos OMIM:615771 TUBB 203068 HP:0002539 Cortical dysplasia ORPHANET:569 ATP1A2 477 HP:0002167 Neurological speech impairment ORPHANET:569 ATP1A2 477 HP:0000639 Nystagmus ORPHANET:569 ATP1A2 477 HP:0000407 Sensorineural hearing impairment ORPHANET:569 ATP1A2 477 HP:0100022 Abnormality of movement ORPHANET:569 ATP1A2 477 HP:0002311 Incoordination ORPHANET:569 ATP1A2 477 HP:0007703 Abnormal retinal pigmentation ORPHANET:569 ATP1A2 477 HP:0002353 EEG abnormality ORPHANET:569 ATP1A2 477 HP:0004374 Hemiplegia/hemiparesis ORPHANET:569 CACNA1A 773 HP:0002167 Neurological speech impairment ORPHANET:569 CACNA1A 773 HP:0000639 Nystagmus ORPHANET:569 CACNA1A 773 HP:0000407 Sensorineural hearing impairment ORPHANET:569 CACNA1A 773 HP:0100022 Abnormality of movement ORPHANET:569 CACNA1A 773 HP:0002311 Incoordination ORPHANET:569 CACNA1A 773 HP:0007703 Abnormal retinal pigmentation ORPHANET:569 CACNA1A 773 HP:0002353 EEG abnormality ORPHANET:569 CACNA1A 773 HP:0004374 Hemiplegia/hemiparesis ORPHANET:569 SCN1A 6323 HP:0002167 Neurological speech impairment ORPHANET:569 SCN1A 6323 HP:0000639 Nystagmus ORPHANET:569 SCN1A 6323 HP:0000407 Sensorineural hearing impairment ORPHANET:569 SCN1A 6323 HP:0100022 Abnormality of movement ORPHANET:569 SCN1A 6323 HP:0002311 Incoordination ORPHANET:569 SCN1A 6323 HP:0007703 Abnormal retinal pigmentation ORPHANET:569 SCN1A 6323 HP:0002353 EEG abnormality ORPHANET:569 SCN1A 6323 HP:0004374 Hemiplegia/hemiparesis ORPHANET:569 PRRT2 112476 HP:0002167 Neurological speech impairment ORPHANET:569 PRRT2 112476 HP:0000639 Nystagmus ORPHANET:569 PRRT2 112476 HP:0000407 Sensorineural hearing impairment ORPHANET:569 PRRT2 112476 HP:0100022 Abnormality of movement ORPHANET:569 PRRT2 112476 HP:0002311 Incoordination ORPHANET:569 PRRT2 112476 HP:0007703 Abnormal retinal pigmentation ORPHANET:569 PRRT2 112476 HP:0002353 EEG abnormality ORPHANET:569 PRRT2 112476 HP:0004374 Hemiplegia/hemiparesis OMIM:300523 SLC16A2 6567 HP:0002650 Scoliosis OMIM:300523 SLC16A2 6567 HP:0002514 Cerebral calcification OMIM:300523 SLC16A2 6567 HP:0000737 Irritability OMIM:300523 SLC16A2 6567 HP:0002169 Clonus OMIM:300523 SLC16A2 6567 HP:0001376 Limitation of joint mobility OMIM:300523 SLC16A2 6567 HP:0001251 Ataxia OMIM:300523 SLC16A2 6567 HP:0006887 Intellectual disability, progressive OMIM:300523 SLC16A2 6567 HP:0001371 Flexion contracture OMIM:300523 SLC16A2 6567 HP:0000194 Open mouth OMIM:300523 SLC16A2 6567 HP:0001347 Hyperreflexia OMIM:300523 SLC16A2 6567 HP:0002311 Incoordination OMIM:300523 SLC16A2 6567 HP:0100543 Cognitive impairment OMIM:300523 SLC16A2 6567 HP:0000275 Narrow face OMIM:300523 SLC16A2 6567 HP:0001260 Dysarthria OMIM:300523 SLC16A2 6567 HP:0008872 Feeding difficulties in infancy OMIM:300523 SLC16A2 6567 HP:0002925 Thyroid-stimulating hormone excess OMIM:300523 SLC16A2 6567 HP:0002307 Drooling OMIM:300523 SLC16A2 6567 HP:0100490 Camptodactyly of finger OMIM:300523 SLC16A2 6567 HP:0001583 Rotary nystagmus OMIM:300523 SLC16A2 6567 HP:0001822 Hallux valgus OMIM:300523 SLC16A2 6567 HP:0001288 Gait disturbance OMIM:300523 SLC16A2 6567 HP:0000549 Abnormal conjugate eye movement OMIM:300523 SLC16A2 6567 HP:0001258 Spastic paraplegia OMIM:300523 SLC16A2 6567 HP:0000508 Ptosis OMIM:300523 SLC16A2 6567 HP:0003202 Skeletal muscle atrophy OMIM:300523 SLC16A2 6567 HP:0001763 Pes planus OMIM:300523 SLC16A2 6567 HP:0001547 Abnormality of the rib cage OMIM:300523 SLC16A2 6567 HP:0001319 Neonatal hypotonia OMIM:300523 SLC16A2 6567 HP:0000395 Prominent antihelix OMIM:300523 SLC16A2 6567 HP:0000252 Microcephaly OMIM:300523 SLC16A2 6567 HP:0002188 Delayed CNS myelination OMIM:300523 SLC16A2 6567 HP:0003577 Congenital onset OMIM:300523 SLC16A2 6567 HP:0011344 Severe global developmental delay OMIM:300523 SLC16A2 6567 HP:0000767 Pectus excavatum OMIM:300523 SLC16A2 6567 HP:0000582 Upslanted palpebral fissure OMIM:300523 SLC16A2 6567 HP:0003700 Generalized amyotrophy OMIM:300523 SLC16A2 6567 HP:0000341 Narrow forehead OMIM:300523 SLC16A2 6567 HP:0003487 Babinski sign OMIM:300523 SLC16A2 6567 HP:0000954 Single transverse palmar crease OMIM:300523 SLC16A2 6567 HP:0000400 Macrotia OMIM:300523 SLC16A2 6567 HP:0002167 Neurological speech impairment OMIM:300523 SLC16A2 6567 HP:0000520 Proptosis OMIM:300523 SLC16A2 6567 HP:0010864 Intellectual disability, severe OMIM:300523 SLC16A2 6567 HP:0010669 Cheekbone underdevelopment OMIM:300523 SLC16A2 6567 HP:0000464 Abnormality of the neck OMIM:300523 SLC16A2 6567 HP:0100651 Type I diabetes mellitus OMIM:300523 SLC16A2 6567 HP:0000821 Hypothyroidism OMIM:300523 SLC16A2 6567 HP:0001423 X-linked dominant inheritance OMIM:300523 SLC16A2 6567 HP:0002540 Inability to walk OMIM:300523 SLC16A2 6567 HP:0002415 Leukodystrophy OMIM:300523 SLC16A2 6567 HP:0002510 Spastic tetraplegia OMIM:300523 SLC16A2 6567 HP:0100015 Stahl ear OMIM:300523 SLC16A2 6567 HP:0007316 Involuntary writhing movements OMIM:157640 POLG 5428 HP:0003581 Adult onset OMIM:157640 POLG 5428 HP:0001260 Dysarthria OMIM:157640 POLG 5428 HP:0006886 Impaired distal vibration sensation OMIM:157640 POLG 5428 HP:0000006 Autosomal dominant inheritance OMIM:157640 POLG 5428 HP:0002548 Parkinsonism with favorable response to dopaminergic medication OMIM:157640 POLG 5428 HP:0002063 Rigidity OMIM:157640 POLG 5428 HP:0003200 Ragged-red muscle fibers OMIM:157640 POLG 5428 HP:0001265 Hyporeflexia OMIM:157640 POLG 5428 HP:0000869 Secondary amenorrhea OMIM:157640 POLG 5428 HP:0000518 Cataract OMIM:157640 POLG 5428 HP:0000590 Progressive external ophthalmoplegia OMIM:157640 POLG 5428 HP:0006858 Impaired distal proprioception OMIM:157640 POLG 5428 HP:0003812 Phenotypic variability OMIM:157640 POLG 5428 HP:0000407 Sensorineural hearing impairment OMIM:157640 POLG 5428 HP:0002151 Increased serum lactate OMIM:157640 POLG 5428 HP:0003202 Skeletal muscle atrophy OMIM:157640 POLG 5428 HP:0008209 Premature ovarian failure OMIM:157640 POLG 5428 HP:0002066 Gait ataxia OMIM:157640 POLG 5428 HP:0000508 Ptosis OMIM:157640 POLG 5428 HP:0003676 Progressive disorder OMIM:157640 POLG 5428 HP:0000716 Depression OMIM:157640 POLG 5428 HP:0001761 Pes cavus OMIM:157640 POLG 5428 HP:0000029 Testicular atrophy OMIM:157640 POLG 5428 HP:0003458 EMG: myopathic abnormalities OMIM:157640 POLG 5428 HP:0002322 Resting tremor OMIM:157640 POLG 5428 HP:0003690 Limb muscle weakness OMIM:157640 POLG 5428 HP:0000815 Hypergonadotropic hypogonadism OMIM:157640 POLG 5428 HP:0002015 Dysphagia OMIM:157640 POLG 5428 HP:0002578 Gastroparesis OMIM:157640 POLG 5428 HP:0003548 Subsarcolemmal accumulations of abnormally shaped mitochondria OMIM:157640 POLG 5428 HP:0002067 Bradykinesia OMIM:157640 POLG 5428 HP:0003323 Progressive muscle weakness OMIM:157640 POLG 5428 HP:0003688 Decreased activity of cytochrome C oxidase in muscle tissue OMIM:157640 POLG 5428 HP:0003557 Increased variability in muscle fiber diameter OMIM:157640 POLG 5428 HP:0003713 Muscle fiber necrosis OMIM:157640 POLG 5428 HP:0003390 Sensory axonal neuropathy OMIM:157640 POLG 5428 HP:0000786 Primary amenorrhea OMIM:157640 POLG 5428 HP:0003546 Exercise intolerance OMIM:157640 POLG 5428 HP:0010628 Facial palsy OMIM:157640 POLG 5428 HP:0003689 Multiple mitochondrial DNA deletions OMIM:131800 ITGB4 3691 HP:0001056 Milia OMIM:131800 ITGB4 3691 HP:0008066 Abnormal blistering of the skin OMIM:131800 ITGB4 3691 HP:0000975 Hyperhidrosis OMIM:131800 ITGB4 3691 HP:0000962 Hyperkeratosis OMIM:131800 ITGB4 3691 HP:0000978 Bruising susceptibility OMIM:131800 ITGB4 3691 HP:0000006 Autosomal dominant inheritance OMIM:131800 ITGB4 3691 HP:0007446 Palmoplantar blistering OMIM:131800 KRT5 3852 HP:0001056 Milia OMIM:131800 KRT5 3852 HP:0008066 Abnormal blistering of the skin OMIM:131800 KRT5 3852 HP:0000975 Hyperhidrosis OMIM:131800 KRT5 3852 HP:0000962 Hyperkeratosis OMIM:131800 KRT5 3852 HP:0000978 Bruising susceptibility OMIM:131800 KRT5 3852 HP:0000006 Autosomal dominant inheritance OMIM:131800 KRT5 3852 HP:0007446 Palmoplantar blistering OMIM:131800 KRT14 3861 HP:0001056 Milia OMIM:131800 KRT14 3861 HP:0008066 Abnormal blistering of the skin OMIM:131800 KRT14 3861 HP:0000975 Hyperhidrosis OMIM:131800 KRT14 3861 HP:0000962 Hyperkeratosis OMIM:131800 KRT14 3861 HP:0000978 Bruising susceptibility OMIM:131800 KRT14 3861 HP:0000006 Autosomal dominant inheritance OMIM:131800 KRT14 3861 HP:0007446 Palmoplantar blistering OMIM:601518 RNASEL 6041 HP:0000006 Autosomal dominant inheritance OMIM:601518 RNASEL 6041 HP:0012125 Prostate cancer OMIM:601518 RNASEL 6041 HP:0002664 Neoplasm OMIM:150800 FH 2271 HP:0005584 Renal cell carcinoma OMIM:150800 FH 2271 HP:0002891 Uterine leiomyosarcoma OMIM:150800 FH 2271 HP:0000131 Uterine leiomyoma OMIM:150800 FH 2271 HP:0003011 Abnormality of the musculature OMIM:150800 FH 2271 HP:0100751 Esophageal neoplasm OMIM:150800 FH 2271 HP:0003829 Incomplete penetrance OMIM:150800 FH 2271 HP:0010784 Uterine neoplasm OMIM:150800 FH 2271 HP:0000518 Cataract OMIM:150800 FH 2271 HP:0006755 Cutaneous leiomyosarcoma OMIM:150800 FH 2271 HP:0008069 Neoplasm of the skin OMIM:150800 FH 2271 HP:0003536 Decreased fumarate hydratase activity OMIM:150800 FH 2271 HP:0100650 Vaginal neoplasm OMIM:150800 FH 2271 HP:0007437 Multiple cutaneous leiomyomas OMIM:150800 FH 2271 HP:0007620 Cutaneous leiomyoma OMIM:150800 FH 2271 HP:0000006 Autosomal dominant inheritance OMIM:150800 FH 2271 HP:0000989 Pruritus OMIM:174810 TNFRSF11A 8792 HP:0003155 Elevated alkaline phosphatase OMIM:174810 TNFRSF11A 8792 HP:0000006 Autosomal dominant inheritance OMIM:174810 TNFRSF11A 8792 HP:0006480 Premature loss of teeth OMIM:174810 TNFRSF11A 8792 HP:0002797 Osteolysis OMIM:174810 TNFRSF11A 8792 HP:0002753 Thin bony cortex OMIM:174810 TNFRSF11A 8792 HP:0000405 Conductive hearing impairment OMIM:174810 TNFRSF11A 8792 HP:0002653 Bone pain OMIM:174810 TNFRSF11A 8792 HP:0003080 Hydroxyprolinuria OMIM:174810 TNFRSF11A 8792 HP:0002756 Pathologic fracture OMIM:607364 CLCNKB 1188 HP:0002914 Hyperchloridura OMIM:607364 CLCNKB 1188 HP:0000591 Abnormality of the sclera OMIM:607364 CLCNKB 1188 HP:0003324 Generalized muscle weakness OMIM:607364 CLCNKB 1188 HP:0003081 Increased urinary potassium OMIM:607364 CLCNKB 1188 HP:0000848 Increased circulating renin level OMIM:607364 CLCNKB 1188 HP:0001944 Dehydration OMIM:607364 CLCNKB 1188 HP:0003127 Hypocalciuria OMIM:607364 CLCNKB 1188 HP:0000128 Renal potassium wasting OMIM:607364 CLCNKB 1188 HP:0000841 Hyperactive renin-angiotensin system OMIM:607364 CLCNKB 1188 HP:0000859 Hyperaldosteronism OMIM:607364 CLCNKB 1188 HP:0005579 Impaired reabsorption of chloride OMIM:607364 CLCNKB 1188 HP:0008046 Abnormality of the retinal vasculature OMIM:607364 CLCNKB 1188 HP:0000103 Polyuria OMIM:607364 CLCNKB 1188 HP:0001960 Hypokalemic metabolic alkalosis OMIM:607364 CLCNKB 1188 HP:0002615 Hypotension OMIM:607364 CLCNKB 1188 HP:0000007 Autosomal recessive inheritance OMIM:607364 CLCNKB 1188 HP:0000127 Renal salt wasting OMIM:607364 CLCNKB 1188 HP:0002900 Hypokalemia OMIM:601419 DES 1674 HP:0002460 Distal muscle weakness OMIM:601419 DES 1674 HP:0011675 Arrhythmia OMIM:601419 DES 1674 HP:0000006 Autosomal dominant inheritance OMIM:601419 DES 1674 HP:0002019 Constipation OMIM:601419 DES 1674 HP:0003812 Phenotypic variability OMIM:601419 DES 1674 HP:0000007 Autosomal recessive inheritance OMIM:601419 DES 1674 HP:0002014 Diarrhea OMIM:601419 DES 1674 HP:0011663 Right ventricular cardiomyopathy OMIM:601419 DES 1674 HP:0002600 Hyporeflexia of lower limbs OMIM:601419 DES 1674 HP:0003458 EMG: myopathic abnormalities OMIM:601419 DES 1674 HP:0001283 Bulbar palsy OMIM:601419 DES 1674 HP:0000467 Neck muscle weakness OMIM:601419 DES 1674 HP:0001639 Hypertrophic cardiomyopathy OMIM:601419 DES 1674 HP:0010628 Facial palsy OMIM:601419 DES 1674 HP:0005130 Restrictive heart failure OMIM:601419 DES 1674 HP:0001644 Dilated cardiomyopathy OMIM:601419 DES 1674 HP:0003694 Late-onset proximal muscle weakness OMIM:601419 DES 1674 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:606482 DNM2 1785 HP:0003693 Distal amyotrophy OMIM:606482 DNM2 1785 HP:0002460 Distal muscle weakness OMIM:606482 DNM2 1785 HP:0001284 Areflexia OMIM:606482 DNM2 1785 HP:0000006 Autosomal dominant inheritance OMIM:606482 DNM2 1785 HP:0001265 Hyporeflexia OMIM:606482 DNM2 1785 HP:0003481 Segmental peripheral demyelination/remyelination OMIM:606482 DNM2 1785 HP:0002936 Distal sensory impairment OMIM:606482 DNM2 1785 HP:0003383 Onion bulb formation OMIM:606482 DNM2 1785 HP:0040078 Axonal degeneration OMIM:606482 DNM2 1785 HP:0007107 Segmental peripheral demyelination OMIM:606482 DNM2 1785 HP:0001761 Pes cavus OMIM:606482 DNM2 1785 HP:0003621 Juvenile onset OMIM:606482 DNM2 1785 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:248300 SLURP1 57152 HP:0010783 Erythema OMIM:248300 SLURP1 57152 HP:0002797 Osteolysis OMIM:248300 SLURP1 57152 HP:0200042 Skin ulcer OMIM:248300 SLURP1 57152 HP:0007553 Congenital symmetrical palmoplantar keratosis OMIM:248300 SLURP1 57152 HP:0000174 Abnormality of the palate OMIM:248300 SLURP1 57152 HP:0008064 Ichthyosis OMIM:248300 SLURP1 57152 HP:0001808 Fragile nails OMIM:248300 SLURP1 57152 HP:0000982 Palmoplantar keratoderma OMIM:248300 SLURP1 57152 HP:0000975 Hyperhidrosis OMIM:248300 SLURP1 57152 HP:0003593 Infantile onset OMIM:248300 SLURP1 57152 HP:0100725 Lichenification OMIM:248300 SLURP1 57152 HP:0001156 Brachydactyly syndrome OMIM:248300 SLURP1 57152 HP:0000153 Abnormality of the mouth OMIM:248300 SLURP1 57152 HP:0000007 Autosomal recessive inheritance OMIM:248300 SLURP1 57152 HP:0006101 Finger syndactyly OMIM:248300 SLURP1 57152 HP:0000998 Hypertrichosis OMIM:309541 HCFC1 3054 HP:0002156 Homocystinuria OMIM:309541 HCFC1 3054 HP:0002521 Hypsarrhythmia OMIM:309541 HCFC1 3054 HP:0004322 Short stature OMIM:309541 HCFC1 3054 HP:0001249 Intellectual disability OMIM:309541 HCFC1 3054 HP:0001419 X-linked recessive inheritance OMIM:309541 HCFC1 3054 HP:0002072 Chorea OMIM:309541 HCFC1 3054 HP:0001417 X-linked inheritance OMIM:309541 HCFC1 3054 HP:0001508 Failure to thrive OMIM:309541 HCFC1 3054 HP:0000252 Microcephaly OMIM:309541 HCFC1 3054 HP:0001252 Muscular hypotonia OMIM:309541 HCFC1 3054 HP:0000248 Brachycephaly OMIM:309541 HCFC1 3054 HP:0002912 Methylmalonic acidemia OMIM:309541 HCFC1 3054 HP:0012120 Methylmalonic aciduria OMIM:309541 HCFC1 3054 HP:0002305 Athetosis OMIM:309541 HCFC1 3054 HP:0003593 Infantile onset OMIM:143890 LDLR 3949 HP:0003124 Hypercholesterolemia OMIM:143890 LDLR 3949 HP:0001084 Corneal arcus OMIM:143890 LDLR 3949 HP:0001114 Xanthelasma OMIM:143890 EPHX2 2053 HP:0003124 Hypercholesterolemia OMIM:143890 EPHX2 2053 HP:0001084 Corneal arcus OMIM:143890 EPHX2 2053 HP:0001114 Xanthelasma OMIM:613762 MAP3K1 4214 HP:0100621 Dysgerminoma OMIM:613762 MAP3K1 4214 HP:0000057 Clitoromegaly OMIM:613762 MAP3K1 4214 HP:0001007 Hirsutism OMIM:613762 MAP3K1 4214 HP:0000150 Gonadoblastoma OMIM:613762 MAP3K1 4214 HP:0012245 Sex reversal OMIM:613762 MAP3K1 4214 HP:0000006 Autosomal dominant inheritance OMIM:613762 MAP3K1 4214 HP:0002215 Sparse axillary hair OMIM:613762 MAP3K1 4214 HP:0000041 Chordee OMIM:607906 ALG2 85365 HP:0100543 Cognitive impairment OMIM:607906 ALG2 85365 HP:0001250 Seizures OMIM:607906 ALG2 85365 HP:0000589 Coloboma OMIM:607906 ALG2 85365 HP:0000639 Nystagmus OMIM:607906 ALG2 85365 HP:0000612 Iris coloboma OMIM:607906 ALG2 85365 HP:0000505 Visual impairment OMIM:607906 ALG2 85365 HP:0002521 Hypsarrhythmia OMIM:607906 ALG2 85365 HP:0002240 Hepatomegaly OMIM:607906 ALG2 85365 HP:0001249 Intellectual disability OMIM:607906 ALG2 85365 HP:0001347 Hyperreflexia OMIM:607906 ALG2 85365 HP:0000518 Cataract OMIM:607906 ALG2 85365 HP:0001928 Abnormality of coagulation OMIM:607906 ALG2 85365 HP:0001263 Global developmental delay ORPHANET:166002 COL9A3 1299 HP:0002829 Arthralgia ORPHANET:166002 COL9A3 1299 HP:0005930 Abnormality of epiphysis morphology ORPHANET:166002 COL9A3 1299 HP:0003272 Abnormality of the hip bone ORPHANET:166002 COL9A3 1299 HP:0002857 Genu valgum ORPHANET:166002 COL9A3 1299 HP:0002758 Osteoarthritis ORPHANET:166002 COL9A3 1299 HP:0002983 Micromelia ORPHANET:166002 COL9A3 1299 HP:0001376 Limitation of joint mobility ORPHANET:166002 COL9A3 1299 HP:0002970 Genu varum ORPHANET:166002 COL9A3 1299 HP:0004322 Short stature ORPHANET:166002 COL9A3 1299 HP:0001288 Gait disturbance ORPHANET:166002 COL9A2 1298 HP:0002829 Arthralgia ORPHANET:166002 COL9A2 1298 HP:0005930 Abnormality of epiphysis morphology ORPHANET:166002 COL9A2 1298 HP:0003272 Abnormality of the hip bone ORPHANET:166002 COL9A2 1298 HP:0002857 Genu valgum ORPHANET:166002 COL9A2 1298 HP:0002758 Osteoarthritis ORPHANET:166002 COL9A2 1298 HP:0002983 Micromelia ORPHANET:166002 COL9A2 1298 HP:0001376 Limitation of joint mobility ORPHANET:166002 COL9A2 1298 HP:0002970 Genu varum ORPHANET:166002 COL9A2 1298 HP:0004322 Short stature ORPHANET:166002 COL9A2 1298 HP:0001288 Gait disturbance ORPHANET:166002 COL9A1 1297 HP:0002829 Arthralgia ORPHANET:166002 COL9A1 1297 HP:0005930 Abnormality of epiphysis morphology ORPHANET:166002 COL9A1 1297 HP:0003272 Abnormality of the hip bone ORPHANET:166002 COL9A1 1297 HP:0002857 Genu valgum ORPHANET:166002 COL9A1 1297 HP:0002758 Osteoarthritis ORPHANET:166002 COL9A1 1297 HP:0002983 Micromelia ORPHANET:166002 COL9A1 1297 HP:0001376 Limitation of joint mobility ORPHANET:166002 COL9A1 1297 HP:0002970 Genu varum ORPHANET:166002 COL9A1 1297 HP:0004322 Short stature ORPHANET:166002 COL9A1 1297 HP:0001288 Gait disturbance OMIM:614091 WDR35 57539 HP:0100259 Postaxial polydactyly OMIM:614091 WDR35 57539 HP:0000113 Polycystic kidney dysplasia OMIM:614091 WDR35 57539 HP:0000882 Hypoplastic scapulae OMIM:614091 WDR35 57539 HP:0000476 Cystic hygroma OMIM:614091 WDR35 57539 HP:0006487 Bowing of the long bones OMIM:614091 WDR35 57539 HP:0000774 Narrow chest OMIM:614091 WDR35 57539 HP:0006644 Thoracic dysplasia OMIM:614091 WDR35 57539 HP:0000047 Hypospadias OMIM:614091 WDR35 57539 HP:0003026 Short long bone OMIM:614091 WDR35 57539 HP:0000007 Autosomal recessive inheritance OMIM:614091 WDR35 57539 HP:0001789 Hydrops fetalis OMIM:614091 WDR35 57539 HP:0000773 Short ribs OMIM:614091 WDR35 57539 HP:0010442 Polydactyly OMIM:614091 WDR35 57539 HP:0001159 Syndactyly OMIM:614091 WDR35 57539 HP:0000107 Renal cyst OMIM:614091 WDR35 57539 HP:0002089 Pulmonary hypoplasia OMIM:164500 ATXN7 6314 HP:0002071 Abnormality of extrapyramidal motor function OMIM:164500 ATXN7 6314 HP:0000006 Autosomal dominant inheritance OMIM:164500 ATXN7 6314 HP:0000648 Optic atrophy OMIM:164500 ATXN7 6314 HP:0003487 Babinski sign OMIM:164500 ATXN7 6314 HP:0002542 Olivopontocerebellar atrophy OMIM:164500 ATXN7 6314 HP:0002310 Orofacial dyskinesia OMIM:164500 ATXN7 6314 HP:0002072 Chorea OMIM:164500 ATXN7 6314 HP:0001268 Mental deterioration OMIM:164500 ATXN7 6314 HP:0002015 Dysphagia OMIM:164500 ATXN7 6314 HP:0001310 Dysmetria OMIM:164500 ATXN7 6314 HP:0000529 Progressive visual loss OMIM:164500 ATXN7 6314 HP:0000639 Nystagmus OMIM:164500 ATXN7 6314 HP:0001260 Dysarthria OMIM:164500 ATXN7 6314 HP:0000608 Macular degeneration OMIM:164500 ATXN7 6314 HP:0003744 Genetic anticipation with paternal anticipation bias OMIM:164500 ATXN7 6314 HP:0000623 Supranuclear ophthalmoplegia OMIM:164500 ATXN7 6314 HP:0001146 Pigmentary retinal degeneration OMIM:164500 ATXN7 6314 HP:0001337 Tremor OMIM:164500 ATXN7 6314 HP:0001347 Hyperreflexia OMIM:164500 ATXN7 6314 HP:0000514 Slow saccadic eye movements OMIM:164500 ATXN7 6314 HP:0001257 Spasticity OMIM:164500 ATXN7 6314 HP:0002073 Progressive cerebellar ataxia OMIM:212065 PMM2 5373 HP:0000400 Macrotia OMIM:212065 PMM2 5373 HP:0001324 Muscle weakness OMIM:212065 PMM2 5373 HP:0002013 Vomiting OMIM:212065 PMM2 5373 HP:0001252 Muscular hypotonia OMIM:212065 PMM2 5373 HP:0001976 Reduced antithrombin III activity OMIM:212065 PMM2 5373 HP:0003645 Prolonged partial thromboplastin time OMIM:212065 PMM2 5373 HP:0002910 Elevated hepatic transaminases OMIM:212065 PMM2 5373 HP:0011220 Prominent forehead OMIM:212065 PMM2 5373 HP:0002240 Hepatomegaly OMIM:212065 PMM2 5373 HP:0000252 Microcephaly OMIM:212065 PMM2 5373 HP:0003146 Hypocholesterolemia OMIM:212065 PMM2 5373 HP:0001560 Abnormality of the amniotic fluid OMIM:212065 PMM2 5373 HP:0000815 Hypergonadotropic hypogonadism OMIM:212065 PMM2 5373 HP:0001265 Hyporeflexia OMIM:212065 PMM2 5373 HP:0001250 Seizures OMIM:212065 PMM2 5373 HP:0001790 Nonimmune hydrops fetalis OMIM:212065 PMM2 5373 HP:0008151 Prolonged prothrombin time OMIM:212065 PMM2 5373 HP:0006955 Olivopontocerebellar hypoplasia OMIM:212065 PMM2 5373 HP:0002720 IgA deficiency OMIM:212065 PMM2 5373 HP:0002808 Kyphosis OMIM:212065 PMM2 5373 HP:0001397 Hepatic steatosis OMIM:212065 PMM2 5373 HP:0001395 Hepatic fibrosis OMIM:212065 PMM2 5373 HP:0001251 Ataxia OMIM:212065 PMM2 5373 HP:0000107 Renal cyst OMIM:212065 PMM2 5373 HP:0001929 Reduced factor XI activity OMIM:212065 PMM2 5373 HP:0000093 Proteinuria OMIM:212065 PMM2 5373 HP:0000639 Nystagmus OMIM:212065 PMM2 5373 HP:0007552 Abnormal subcutaneous fat tissue distribution OMIM:212065 PMM2 5373 HP:0000510 Retinitis pigmentosa OMIM:212065 PMM2 5373 HP:0001894 Thrombocytosis OMIM:212065 PMM2 5373 HP:0001508 Failure to thrive OMIM:212065 PMM2 5373 HP:0000114 Proximal tubulopathy OMIM:212065 PMM2 5373 HP:0000938 Osteopenia OMIM:212065 PMM2 5373 HP:0004315 IgG deficiency OMIM:212065 PMM2 5373 HP:0001638 Cardiomyopathy OMIM:212065 PMM2 5373 HP:0001698 Pericardial effusion OMIM:212065 PMM2 5373 HP:0000821 Hypothyroidism OMIM:212065 PMM2 5373 HP:0000565 Esotropia OMIM:212065 PMM2 5373 HP:0001587 Primary ovarian failure OMIM:212065 PMM2 5373 HP:0000100 Nephrotic syndrome OMIM:212065 PMM2 5373 HP:0002014 Diarrhea OMIM:212065 PMM2 5373 HP:0003642 Type I transferrin isoform profile OMIM:212065 PMM2 5373 HP:0002401 Stroke-like episodes OMIM:212065 PMM2 5373 HP:0000219 Thin upper lip vermilion OMIM:212065 PMM2 5373 HP:0008872 Feeding difficulties in infancy OMIM:212065 PMM2 5373 HP:0001371 Flexion contracture OMIM:212065 PMM2 5373 HP:0001263 Global developmental delay OMIM:212065 PMM2 5373 HP:0000007 Autosomal recessive inheritance OMIM:212065 PMM2 5373 HP:0005280 Depressed nasal bridge OMIM:212065 PMM2 5373 HP:0003073 Hypoalbuminemia OMIM:212065 PMM2 5373 HP:0003186 Inverted nipples OMIM:212065 PMM2 5373 HP:0001271 Polyneuropathy OMIM:300802 SYP 6855 HP:0001250 Seizures OMIM:300802 SYP 6855 HP:0001249 Intellectual disability OMIM:300802 SYP 6855 HP:0001423 X-linked dominant inheritance OMIM:608779 COG7 91949 HP:0001639 Hypertrophic cardiomyopathy OMIM:608779 COG7 91949 HP:0010978 Abnormality of immune system physiology OMIM:608779 COG7 91949 HP:0001252 Muscular hypotonia OMIM:224120 CDAN1 146059 HP:0012132 Erythroid hyperplasia OMIM:224120 CDAN1 146059 HP:0001923 Reticulocytosis OMIM:224120 CDAN1 146059 HP:0003352 Endopolyploidy on chromosome studies of bone marrow OMIM:224120 CDAN1 146059 HP:0004447 Poikilocytosis OMIM:224120 CDAN1 146059 HP:0001789 Hydrops fetalis OMIM:224120 CDAN1 146059 HP:0001159 Syndactyly OMIM:224120 CDAN1 146059 HP:0001530 Mild postnatal growth retardation OMIM:224120 CDAN1 146059 HP:0011273 Anisocytosis OMIM:224120 CDAN1 146059 HP:0003655 Reduced activity of N-acetylglucosaminyltransferase II OMIM:224120 CDAN1 146059 HP:0001744 Splenomegaly OMIM:224120 CDAN1 146059 HP:0005532 Macrocytic dyserythropoietic anemia OMIM:224120 CDAN1 146059 HP:0006579 Prolonged neonatal jaundice OMIM:224120 CDAN1 146059 HP:0000007 Autosomal recessive inheritance OMIM:300918 MBTPS2 51360 HP:0000982 Palmoplantar keratoderma OMIM:300918 MBTPS2 51360 HP:0000972 Palmoplantar hyperkeratosis OMIM:300918 MBTPS2 51360 HP:0008392 Subungual hyperkeratosis OMIM:300918 MBTPS2 51360 HP:0001036 Parakeratosis OMIM:125400 SMOC2 64094 HP:0006350 Obliteration of the pulp chamber OMIM:125400 SMOC2 64094 HP:0000679 Taurodontia OMIM:125400 SMOC2 64094 HP:0011060 Dentinogenesis imperfecta limited to primary teeth OMIM:125400 SMOC2 64094 HP:0000007 Autosomal recessive inheritance OMIM:125400 SMOC2 64094 HP:0000700 Periapical radiolucency OMIM:125400 SMOC2 64094 HP:0000691 Microdontia OMIM:125400 SMOC2 64094 HP:0000006 Autosomal dominant inheritance OMIM:300436 ARHGEF6 9459 HP:0001249 Intellectual disability OMIM:300436 ARHGEF6 9459 HP:0001419 X-linked recessive inheritance OMIM:300436 ARHGEF6 9459 HP:0000407 Sensorineural hearing impairment OMIM:604286 SGCB 6443 HP:0003621 Juvenile onset OMIM:604286 SGCB 6443 HP:0003691 Scapular winging OMIM:604286 SGCB 6443 HP:0008988 Pelvic girdle muscle atrophy OMIM:604286 SGCB 6443 HP:0007126 Proximal amyotrophy OMIM:604286 SGCB 6443 HP:0003560 Muscular dystrophy OMIM:604286 SGCB 6443 HP:0000007 Autosomal recessive inheritance OMIM:604286 SGCB 6443 HP:0003724 Shoulder girdle muscle atrophy OMIM:604286 SGCB 6443 HP:0003707 Calf muscle pseudohypertrophy OMIM:604286 SGCB 6443 HP:0003236 Elevated serum creatine phosphokinase OMIM:604286 SGCB 6443 HP:0001644 Dilated cardiomyopathy OMIM:604286 SGCB 6443 HP:0003325 Limb-girdle muscle weakness OMIM:193530 EVC2 132884 HP:0000601 Hypotelorism OMIM:193530 EVC2 132884 HP:0001156 Brachydactyly syndrome OMIM:193530 EVC2 132884 HP:0001231 Abnormality of the fingernails OMIM:193530 EVC2 132884 HP:0009804 Reduced number of teeth OMIM:193530 EVC2 132884 HP:0000006 Autosomal dominant inheritance OMIM:193530 EVC2 132884 HP:0004209 Clinodactyly of the 5th finger OMIM:193530 EVC2 132884 HP:0001162 Postaxial hand polydactyly OMIM:193530 EVC2 132884 HP:0001800 Hypoplastic toenails OMIM:193530 EVC2 132884 HP:0006288 Advanced eruption of teeth OMIM:193530 EVC2 132884 HP:0000698 Conical tooth OMIM:193530 EVC2 132884 HP:0004322 Short stature OMIM:193530 EVC2 132884 HP:0001830 Postaxial foot polydactyly OMIM:193530 EVC2 132884 HP:0006482 Abnormality of dental morphology OMIM:193530 EVC2 132884 HP:0006315 Single median maxillary incisor OMIM:193530 EVC2 132884 HP:0002164 Nail dysplasia OMIM:193530 EVC2 132884 HP:0000395 Prominent antihelix OMIM:193530 EVC2 132884 HP:0004279 Short palm OMIM:193530 EVC2 132884 HP:0003502 Mild short stature OMIM:193530 EVC2 132884 HP:0002006 Facial cleft OMIM:193530 EVC2 132884 HP:0009738 Abnormality of the antihelix OMIM:193530 EVC2 132884 HP:0001792 Small nail OMIM:193530 EVC 2121 HP:0000601 Hypotelorism OMIM:193530 EVC 2121 HP:0001156 Brachydactyly syndrome OMIM:193530 EVC 2121 HP:0001231 Abnormality of the fingernails OMIM:193530 EVC 2121 HP:0009804 Reduced number of teeth OMIM:193530 EVC 2121 HP:0000006 Autosomal dominant inheritance OMIM:193530 EVC 2121 HP:0004209 Clinodactyly of the 5th finger OMIM:193530 EVC 2121 HP:0001162 Postaxial hand polydactyly OMIM:193530 EVC 2121 HP:0001800 Hypoplastic toenails OMIM:193530 EVC 2121 HP:0006288 Advanced eruption of teeth OMIM:193530 EVC 2121 HP:0000698 Conical tooth OMIM:193530 EVC 2121 HP:0004322 Short stature OMIM:193530 EVC 2121 HP:0001830 Postaxial foot polydactyly OMIM:193530 EVC 2121 HP:0006482 Abnormality of dental morphology OMIM:193530 EVC 2121 HP:0006315 Single median maxillary incisor OMIM:193530 EVC 2121 HP:0002164 Nail dysplasia OMIM:193530 EVC 2121 HP:0000395 Prominent antihelix OMIM:193530 EVC 2121 HP:0004279 Short palm OMIM:193530 EVC 2121 HP:0003502 Mild short stature OMIM:193530 EVC 2121 HP:0002006 Facial cleft OMIM:193530 EVC 2121 HP:0009738 Abnormality of the antihelix OMIM:193530 EVC 2121 HP:0001792 Small nail OMIM:614157 FZD6 8323 HP:0000007 Autosomal recessive inheritance OMIM:614157 FZD6 8323 HP:0001806 Onycholysis OMIM:610460 TPMT 7172 HP:0001871 Abnormality of blood and blood-forming tissues OMIM:610460 TPMT 7172 HP:0000007 Autosomal recessive inheritance OMIM:610460 TPMT 7172 HP:0001939 Abnormality of metabolism/homeostasis OMIM:616321 CHRND 1144 HP:0003388 Easy fatigability OMIM:616321 CHRND 1144 HP:0003324 Generalized muscle weakness OMIM:616321 CHRND 1144 HP:0000508 Ptosis OMIM:616321 CHRND 1144 HP:0002015 Dysphagia OMIM:616321 CHRND 1144 HP:0002540 Inability to walk OMIM:616321 CHRND 1144 HP:0002093 Respiratory insufficiency OMIM:616321 CHRND 1144 HP:0001252 Muscular hypotonia OMIM:614883 PEX13 5194 HP:0003429 CNS hypomyelination OMIM:614883 PEX13 5194 HP:0000463 Anteverted nares OMIM:614883 PEX13 5194 HP:0001263 Global developmental delay OMIM:614883 PEX13 5194 HP:0001250 Seizures OMIM:614883 PEX13 5194 HP:0000348 High forehead OMIM:614883 PEX13 5194 HP:0008947 Infantile muscular hypotonia OMIM:614883 PEX13 5194 HP:0002104 Apnea OMIM:614883 PEX13 5194 HP:0100729 Large face OMIM:614883 PEX13 5194 HP:0002910 Elevated hepatic transaminases OMIM:614883 PEX13 5194 HP:0001339 Lissencephaly OMIM:614883 PEX13 5194 HP:0001508 Failure to thrive OMIM:614883 PEX13 5194 HP:0002126 Polymicrogyria OMIM:614883 PEX13 5194 HP:0000239 Large fontanelles OMIM:614883 PEX13 5194 HP:0005280 Depressed nasal bridge OMIM:614883 PEX13 5194 HP:0000107 Renal cyst OMIM:614883 PEX13 5194 HP:0001410 Decreased liver function OMIM:614883 PEX13 5194 HP:0000325 Triangular face OMIM:228000 ASAH1 427 HP:0001386 Joint swelling OMIM:228000 ASAH1 427 HP:0002808 Kyphosis OMIM:228000 ASAH1 427 HP:0002093 Respiratory insufficiency OMIM:228000 ASAH1 427 HP:0002240 Hepatomegaly OMIM:228000 ASAH1 427 HP:0002206 Pulmonary fibrosis OMIM:228000 ASAH1 427 HP:0001615 Hoarse cry OMIM:228000 ASAH1 427 HP:0010729 Cherry red spot of the macula OMIM:228000 ASAH1 427 HP:0000951 Abnormality of the skin OMIM:228000 ASAH1 427 HP:0007470 Periarticular subcutaneous nodules OMIM:228000 ASAH1 427 HP:0003828 Variable expressivity OMIM:228000 ASAH1 427 HP:0001249 Intellectual disability OMIM:228000 ASAH1 427 HP:0001369 Arthritis OMIM:228000 ASAH1 427 HP:0000639 Nystagmus OMIM:228000 ASAH1 427 HP:0040139 Lipogranulomatosis OMIM:228000 ASAH1 427 HP:0004322 Short stature OMIM:228000 ASAH1 427 HP:0001744 Splenomegaly OMIM:228000 ASAH1 427 HP:0001376 Limitation of joint mobility OMIM:228000 ASAH1 427 HP:0000007 Autosomal recessive inheritance OMIM:228000 ASAH1 427 HP:0100543 Cognitive impairment OMIM:228000 ASAH1 427 HP:0007759 Opacification of the corneal stroma OMIM:228000 ASAH1 427 HP:0002829 Arthralgia OMIM:228000 ASAH1 427 HP:0004349 Reduced bone mineral density OMIM:228000 ASAH1 427 HP:0003202 Skeletal muscle atrophy OMIM:228000 ASAH1 427 HP:0001103 Abnormality of the macula OMIM:228000 ASAH1 427 HP:0001601 Laryngomalacia OMIM:228000 ASAH1 427 HP:0001270 Motor delay OMIM:228000 ASAH1 427 HP:0001508 Failure to thrive OMIM:228000 ASAH1 427 HP:0000737 Irritability OMIM:228000 ASAH1 427 HP:0001608 Abnormality of the voice OMIM:228000 ASAH1 427 HP:0002205 Recurrent respiratory infections OMIM:228000 ASAH1 427 HP:0003676 Progressive disorder OMIM:612018 SLC16A12 387700 HP:0000518 Cataract OMIM:612018 SLC16A12 387700 HP:0000482 Microcornea OMIM:612018 SLC16A12 387700 HP:0000006 Autosomal dominant inheritance OMIM:612018 SLC16A12 387700 HP:0003076 Glycosuria OMIM:602079 FMO3 2328 HP:0001744 Splenomegaly OMIM:602079 FMO3 2328 HP:0000007 Autosomal recessive inheritance OMIM:602079 FMO3 2328 HP:0003614 Trimethylaminuria OMIM:602079 FMO3 2328 HP:0000716 Depression OMIM:602079 FMO3 2328 HP:0001903 Anemia OMIM:602079 FMO3 2328 HP:0006532 Recurrent pneumonia OMIM:602079 FMO3 2328 HP:0001875 Neutropenia OMIM:602079 FMO3 2328 HP:0001649 Tachycardia OMIM:602079 FMO3 2328 HP:0000822 Hypertension OMIM:222745 DECR1 1666 HP:0001319 Neonatal hypotonia OMIM:222745 DECR1 1666 HP:0005972 Respiratory acidosis OMIM:222745 DECR1 1666 HP:0000007 Autosomal recessive inheritance OMIM:222745 DECR1 1666 HP:0002161 Hyperlysinemia OMIM:615267 IL17RD 54756 HP:0000006 Autosomal dominant inheritance OMIM:615267 IL17RD 54756 HP:0000135 Hypogonadism OMIM:615267 IL17RD 54756 HP:0000458 Anosmia OMIM:615267 IL17RD 54756 HP:0000938 Osteopenia OMIM:615267 IL17RD 54756 HP:0000939 Osteoporosis OMIM:615267 IL17RD 54756 HP:0000365 Hearing impairment OMIM:615267 IL17RD 54756 HP:0000164 Abnormality of the teeth OMIM:614114 CEP57 9702 HP:0001680 Coarctation of aorta OMIM:614114 CEP57 9702 HP:0002247 Duodenal atresia OMIM:614114 CEP57 9702 HP:0003812 Phenotypic variability OMIM:614114 CEP57 9702 HP:0002750 Delayed skeletal maturation OMIM:614114 CEP57 9702 HP:0000325 Triangular face OMIM:614114 CEP57 9702 HP:0012745 Short palpebral fissure OMIM:614114 CEP57 9702 HP:0000490 Deeply set eye OMIM:614114 CEP57 9702 HP:0000957 Cafe-au-lait spot OMIM:614114 CEP57 9702 HP:0000824 Growth hormone deficiency OMIM:614114 CEP57 9702 HP:0000347 Micrognathia OMIM:614114 CEP57 9702 HP:0010535 Sleep apnea OMIM:614114 CEP57 9702 HP:0000365 Hearing impairment OMIM:614114 CEP57 9702 HP:0001682 Subaortic stenosis OMIM:614114 CEP57 9702 HP:0000821 Hypothyroidism OMIM:614114 CEP57 9702 HP:0000268 Dolichocephaly OMIM:614114 CEP57 9702 HP:0005280 Depressed nasal bridge OMIM:614114 CEP57 9702 HP:0001659 Aortic regurgitation OMIM:614114 CEP57 9702 HP:0002101 Abnormal lung lobation OMIM:614114 CEP57 9702 HP:0000581 Blepharophimosis OMIM:614114 CEP57 9702 HP:0000494 Downslanted palpebral fissures OMIM:614114 CEP57 9702 HP:0004322 Short stature OMIM:614114 CEP57 9702 HP:0000252 Microcephaly OMIM:614114 CEP57 9702 HP:0000369 Low-set ears OMIM:614114 CEP57 9702 HP:0003196 Short nose OMIM:614114 CEP57 9702 HP:0002007 Frontal bossing OMIM:614114 CEP57 9702 HP:0001518 Small for gestational age OMIM:614114 CEP57 9702 HP:0000007 Autosomal recessive inheritance OMIM:614114 CEP57 9702 HP:0001511 Intrauterine growth retardation OMIM:614114 CEP57 9702 HP:0001631 Defect in the atrial septum OMIM:614114 CEP57 9702 HP:0200040 Epidermoid cyst OMIM:614114 CEP57 9702 HP:0001252 Muscular hypotonia OMIM:614114 CEP57 9702 HP:0000286 Epicanthus OMIM:614114 CEP57 9702 HP:0001256 Intellectual disability, mild OMIM:614114 CEP57 9702 HP:0001629 Ventricular septal defect OMIM:614114 CEP57 9702 HP:0000276 Long face OMIM:600775 ERF 2077 HP:0001276 Hypertonia OMIM:600775 ERF 2077 HP:0000506 Telecanthus OMIM:600775 ERF 2077 HP:0001357 Plagiocephaly OMIM:600775 ERF 2077 HP:0002007 Frontal bossing OMIM:600775 ERF 2077 HP:0011327 Posterior plagiocephaly OMIM:600775 ERF 2077 HP:0000006 Autosomal dominant inheritance OMIM:600775 ERF 2077 HP:0001363 Craniosynostosis OMIM:600775 ERF 2077 HP:0003196 Short nose OMIM:600775 ERF 2077 HP:0000272 Malar flattening OMIM:600775 ERF 2077 HP:0000581 Blepharophimosis OMIM:600775 ERF 2077 HP:0010751 Chin dimple OMIM:600775 ERF 2077 HP:0000238 Hydrocephalus OMIM:600775 ERF 2077 HP:0008572 External ear malformation OMIM:600775 ERF 2077 HP:0000324 Facial asymmetry OMIM:600775 ERF 2077 HP:0011800 Midface retrusion OMIM:600775 ERF 2077 HP:0002714 Downturned corners of mouth OMIM:600775 ERF 2077 HP:0100543 Cognitive impairment OMIM:600775 ERF 2077 HP:0005469 Flat occiput OMIM:600775 ERF 2077 HP:0001252 Muscular hypotonia OMIM:600775 ERF 2077 HP:0011325 Pansynostosis OMIM:600775 ERF 2077 HP:0100830 Round ear OMIM:600775 ERF 2077 HP:0000256 Macrocephaly OMIM:600775 ERF 2077 HP:0004443 Lambdoidal craniosynostosis OMIM:614838 NSMF 26012 HP:0000458 Anosmia OMIM:614838 NSMF 26012 HP:0000044 Hypogonadotrophic hypogonadism OMIM:614838 NSMF 26012 HP:0000006 Autosomal dominant inheritance OMIM:614170 PRDM5 11107 HP:0001537 Umbilical hernia OMIM:614170 PRDM5 11107 HP:0007720 Flat cornea OMIM:614170 PRDM5 11107 HP:0002757 Recurrent fractures OMIM:614170 PRDM5 11107 HP:0003326 Myalgia OMIM:614170 PRDM5 11107 HP:0000365 Hearing impairment OMIM:614170 PRDM5 11107 HP:0000545 Myopia OMIM:614170 PRDM5 11107 HP:0000592 Blue sclerae OMIM:614170 PRDM5 11107 HP:0001288 Gait disturbance OMIM:614170 PRDM5 11107 HP:0000023 Inguinal hernia OMIM:614170 PRDM5 11107 HP:0001119 Keratoglobus OMIM:614170 PRDM5 11107 HP:0000485 Megalocornea OMIM:614170 PRDM5 11107 HP:0000563 Keratoconus OMIM:614170 PRDM5 11107 HP:0000647 Sclerocornea OMIM:614170 PRDM5 11107 HP:0000007 Autosomal recessive inheritance ORPHANET:1369 SLC25A4 291 HP:0000512 Abnormal electroretinogram ORPHANET:1369 SLC25A4 291 HP:0000501 Glaucoma ORPHANET:1369 SLC25A4 291 HP:0000486 Strabismus ORPHANET:1369 SLC25A4 291 HP:0003198 Myopathy ORPHANET:1369 SLC25A4 291 HP:0000639 Nystagmus ORPHANET:1369 SLC25A4 291 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:1369 SLC25A4 291 HP:0000545 Myopia ORPHANET:1369 SLC25A4 291 HP:0001131 Corneal dystrophy ORPHANET:1369 SLC25A4 291 HP:0000518 Cataract ORPHANET:1369 AGK 55750 HP:0000512 Abnormal electroretinogram ORPHANET:1369 AGK 55750 HP:0000501 Glaucoma ORPHANET:1369 AGK 55750 HP:0000486 Strabismus ORPHANET:1369 AGK 55750 HP:0003198 Myopathy ORPHANET:1369 AGK 55750 HP:0000639 Nystagmus ORPHANET:1369 AGK 55750 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:1369 AGK 55750 HP:0000545 Myopia ORPHANET:1369 AGK 55750 HP:0001131 Corneal dystrophy ORPHANET:1369 AGK 55750 HP:0000518 Cataract OMIM:601954 TCAP 8557 HP:0002355 Difficulty walking OMIM:601954 TCAP 8557 HP:0000007 Autosomal recessive inheritance OMIM:601954 TCAP 8557 HP:0008948 Proximal upper limb amyotrophy OMIM:601954 TCAP 8557 HP:0009027 Foot dorsiflexor weakness OMIM:601954 TCAP 8557 HP:0009046 Difficulty running OMIM:601954 TCAP 8557 HP:0003560 Muscular dystrophy OMIM:601954 TCAP 8557 HP:0008944 Distal lower limb amyotrophy OMIM:601954 TCAP 8557 HP:0003557 Increased variability in muscle fiber diameter OMIM:601954 TCAP 8557 HP:0002522 Areflexia of lower limbs OMIM:601954 TCAP 8557 HP:0003805 Rimmed vacuoles OMIM:601954 TCAP 8557 HP:0009053 Distal lower limb muscle weakness OMIM:601954 TCAP 8557 HP:0003551 Difficulty climbing stairs OMIM:601954 TCAP 8557 HP:0009025 Increased connective tissue OMIM:601954 TCAP 8557 HP:0003236 Elevated serum creatine phosphokinase OMIM:601954 TCAP 8557 HP:0008997 Proximal muscle weakness in upper limbs OMIM:601954 TCAP 8557 HP:0008981 Calf muscle hypertrophy OMIM:255110 CPT2 1376 HP:0003326 Myalgia OMIM:255110 CPT2 1376 HP:0003198 Myopathy OMIM:255110 CPT2 1376 HP:0002913 Myoglobinuria OMIM:255110 CPT2 1376 HP:0001324 Muscle weakness OMIM:255110 CPT2 1376 HP:0003201 Rhabdomyolysis OMIM:255110 CPT2 1376 HP:0000007 Autosomal recessive inheritance OMIM:255110 CPT2 1376 HP:0003394 Muscle cramps OMIM:255110 CPT2 1376 HP:0000083 Renal insufficiency OMIM:255110 CPT2 1376 HP:0003552 Muscle stiffness OMIM:613152 FKTN 2218 HP:0003741 Congenital muscular dystrophy OMIM:613152 FKTN 2218 HP:0000007 Autosomal recessive inheritance OMIM:613152 FKTN 2218 HP:0001252 Muscular hypotonia OMIM:613152 FKTN 2218 HP:0003593 Infantile onset OMIM:613152 FKTN 2218 HP:0003236 Elevated serum creatine phosphokinase OMIM:613152 FKTN 2218 HP:0001270 Motor delay ORPHANET:306 KCNQ2 3785 HP:0001252 Muscular hypotonia ORPHANET:306 KCNQ2 3785 HP:0004372 Reduced consciousness/confusion ORPHANET:306 KCNQ2 3785 HP:0002076 Migraine ORPHANET:306 KCNQ2 3785 HP:0002017 Nausea and vomiting ORPHANET:306 KCNQ2 3785 HP:0002072 Chorea ORPHANET:306 KCNQ2 3785 HP:0000738 Hallucinations ORPHANET:306 KCNQ2 3785 HP:0003401 Paresthesia ORPHANET:306 KCNQ2 3785 HP:0002354 Memory impairment ORPHANET:306 KCNQ2 3785 HP:0000478 Abnormality of the eye ORPHANET:306 KCNQ2 3785 HP:0001276 Hypertonia ORPHANET:306 KCNQ2 3785 HP:0001250 Seizures ORPHANET:306 KCNQ2 3785 HP:0002167 Neurological speech impairment ORPHANET:306 KCNQ3 3786 HP:0001252 Muscular hypotonia ORPHANET:306 KCNQ3 3786 HP:0004372 Reduced consciousness/confusion ORPHANET:306 KCNQ3 3786 HP:0002076 Migraine ORPHANET:306 KCNQ3 3786 HP:0002017 Nausea and vomiting ORPHANET:306 KCNQ3 3786 HP:0002072 Chorea ORPHANET:306 KCNQ3 3786 HP:0000738 Hallucinations ORPHANET:306 KCNQ3 3786 HP:0003401 Paresthesia ORPHANET:306 KCNQ3 3786 HP:0002354 Memory impairment ORPHANET:306 KCNQ3 3786 HP:0000478 Abnormality of the eye ORPHANET:306 KCNQ3 3786 HP:0001276 Hypertonia ORPHANET:306 KCNQ3 3786 HP:0001250 Seizures ORPHANET:306 KCNQ3 3786 HP:0002167 Neurological speech impairment ORPHANET:306 PRRT2 112476 HP:0001252 Muscular hypotonia ORPHANET:306 PRRT2 112476 HP:0004372 Reduced consciousness/confusion ORPHANET:306 PRRT2 112476 HP:0002076 Migraine ORPHANET:306 PRRT2 112476 HP:0002017 Nausea and vomiting ORPHANET:306 PRRT2 112476 HP:0002072 Chorea ORPHANET:306 PRRT2 112476 HP:0000738 Hallucinations ORPHANET:306 PRRT2 112476 HP:0003401 Paresthesia ORPHANET:306 PRRT2 112476 HP:0002354 Memory impairment ORPHANET:306 PRRT2 112476 HP:0000478 Abnormality of the eye ORPHANET:306 PRRT2 112476 HP:0001276 Hypertonia ORPHANET:306 PRRT2 112476 HP:0001250 Seizures ORPHANET:306 PRRT2 112476 HP:0002167 Neurological speech impairment ORPHANET:306 SCN2A 6326 HP:0001252 Muscular hypotonia ORPHANET:306 SCN2A 6326 HP:0004372 Reduced consciousness/confusion ORPHANET:306 SCN2A 6326 HP:0002076 Migraine ORPHANET:306 SCN2A 6326 HP:0002017 Nausea and vomiting ORPHANET:306 SCN2A 6326 HP:0002072 Chorea ORPHANET:306 SCN2A 6326 HP:0000738 Hallucinations ORPHANET:306 SCN2A 6326 HP:0003401 Paresthesia ORPHANET:306 SCN2A 6326 HP:0002354 Memory impairment ORPHANET:306 SCN2A 6326 HP:0000478 Abnormality of the eye ORPHANET:306 SCN2A 6326 HP:0001276 Hypertonia ORPHANET:306 SCN2A 6326 HP:0001250 Seizures ORPHANET:306 SCN2A 6326 HP:0002167 Neurological speech impairment OMIM:222748 DPYS 1807 HP:0007256 Abnormal pyramidal signs OMIM:222748 DPYS 1807 HP:0001762 Talipes equinovarus OMIM:222748 DPYS 1807 HP:0008872 Feeding difficulties in infancy OMIM:222748 DPYS 1807 HP:0002062 Morphological abnormality of the pyramidal tract OMIM:222748 DPYS 1807 HP:0001249 Intellectual disability OMIM:222748 DPYS 1807 HP:0001254 Lethargy OMIM:222748 DPYS 1807 HP:0003812 Phenotypic variability OMIM:222748 DPYS 1807 HP:0000750 Delayed speech and language development OMIM:222748 DPYS 1807 HP:0001510 Growth delay OMIM:222748 DPYS 1807 HP:0001942 Metabolic acidosis OMIM:222748 DPYS 1807 HP:0002023 Anal atresia OMIM:222748 DPYS 1807 HP:0001357 Plagiocephaly OMIM:222748 DPYS 1807 HP:0001250 Seizures OMIM:222748 DPYS 1807 HP:0001999 Abnormal facial shape OMIM:222748 DPYS 1807 HP:0001262 Somnolence OMIM:222748 DPYS 1807 HP:0000007 Autosomal recessive inheritance OMIM:222748 DPYS 1807 HP:0009803 Short phalanx of finger OMIM:222748 DPYS 1807 HP:0003654 Reduced dihydropyrimidine dehydrogenase activity OMIM:222748 DPYS 1807 HP:0007308 Extrapyramidal dyskinesia OMIM:222748 DPYS 1807 HP:0002500 Abnormality of the cerebral white matter OMIM:180800 MPZ 4359 HP:0002715 Abnormality of the immune system OMIM:180800 MPZ 4359 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:180800 MPZ 4359 HP:0001270 Motor delay OMIM:180800 MPZ 4359 HP:0001765 Hammertoe OMIM:180800 MPZ 4359 HP:0003481 Segmental peripheral demyelination/remyelination OMIM:180800 MPZ 4359 HP:0001284 Areflexia OMIM:180800 MPZ 4359 HP:0001288 Gait disturbance OMIM:180800 MPZ 4359 HP:0002936 Distal sensory impairment OMIM:180800 MPZ 4359 HP:0003383 Onion bulb formation OMIM:180800 MPZ 4359 HP:0003693 Distal amyotrophy OMIM:180800 MPZ 4359 HP:0007351 Upper limb postural tremor OMIM:180800 MPZ 4359 HP:0003382 Hypertrophic nerve changes OMIM:180800 MPZ 4359 HP:0003621 Juvenile onset OMIM:180800 MPZ 4359 HP:0000762 Decreased nerve conduction velocity OMIM:180800 MPZ 4359 HP:0001265 Hyporeflexia OMIM:180800 MPZ 4359 HP:0002066 Gait ataxia OMIM:180800 MPZ 4359 HP:0003677 Slow progression OMIM:180800 MPZ 4359 HP:0002460 Distal muscle weakness OMIM:180800 MPZ 4359 HP:0001761 Pes cavus OMIM:180800 MPZ 4359 HP:0003431 Decreased motor nerve conduction velocity OMIM:180800 MPZ 4359 HP:0000006 Autosomal dominant inheritance OMIM:180800 MPZ 4359 HP:0001315 Reduced tendon reflexes OMIM:180800 MPZ 4359 HP:0002751 Kyphoscoliosis OMIM:180800 PMP22 5376 HP:0002715 Abnormality of the immune system OMIM:180800 PMP22 5376 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:180800 PMP22 5376 HP:0001270 Motor delay OMIM:180800 PMP22 5376 HP:0001765 Hammertoe OMIM:180800 PMP22 5376 HP:0003481 Segmental peripheral demyelination/remyelination OMIM:180800 PMP22 5376 HP:0001284 Areflexia OMIM:180800 PMP22 5376 HP:0001288 Gait disturbance OMIM:180800 PMP22 5376 HP:0002936 Distal sensory impairment OMIM:180800 PMP22 5376 HP:0003383 Onion bulb formation OMIM:180800 PMP22 5376 HP:0003693 Distal amyotrophy OMIM:180800 PMP22 5376 HP:0007351 Upper limb postural tremor OMIM:180800 PMP22 5376 HP:0003382 Hypertrophic nerve changes OMIM:180800 PMP22 5376 HP:0003621 Juvenile onset OMIM:180800 PMP22 5376 HP:0000762 Decreased nerve conduction velocity OMIM:180800 PMP22 5376 HP:0001265 Hyporeflexia OMIM:180800 PMP22 5376 HP:0002066 Gait ataxia OMIM:180800 PMP22 5376 HP:0003677 Slow progression OMIM:180800 PMP22 5376 HP:0002460 Distal muscle weakness OMIM:180800 PMP22 5376 HP:0001761 Pes cavus OMIM:180800 PMP22 5376 HP:0003431 Decreased motor nerve conduction velocity OMIM:180800 PMP22 5376 HP:0000006 Autosomal dominant inheritance OMIM:180800 PMP22 5376 HP:0001315 Reduced tendon reflexes OMIM:180800 PMP22 5376 HP:0002751 Kyphoscoliosis OMIM:192350 HOXD13 3239 HP:0008897 Postnatal growth retardation OMIM:192350 HOXD13 3239 HP:0001671 Abnormality of the cardiac septa OMIM:192350 HOXD13 3239 HP:0001195 Single umbilical artery OMIM:192350 HOXD13 3239 HP:0001643 Patent ductus arteriosus OMIM:192350 HOXD13 3239 HP:0001629 Ventricular septal defect OMIM:192350 HOXD13 3239 HP:0002085 Occipital encephalocele OMIM:192350 HOXD13 3239 HP:0001511 Intrauterine growth retardation OMIM:192350 HOXD13 3239 HP:0001199 Triphalangeal thumb OMIM:192350 HOXD13 3239 HP:0002984 Hypoplasia of the radius OMIM:192350 HOXD13 3239 HP:0001636 Tetralogy of Fallot OMIM:192350 HOXD13 3239 HP:0000766 Abnormality of the sternum OMIM:192350 HOXD13 3239 HP:0003974 Absent radius OMIM:192350 HOXD13 3239 HP:0000062 Ambiguous genitalia OMIM:192350 HOXD13 3239 HP:0001561 Polyhydramnios OMIM:192350 HOXD13 3239 HP:0002777 Tracheal stenosis OMIM:192350 HOXD13 3239 HP:0002575 Tracheoesophageal fistula OMIM:192350 HOXD13 3239 HP:0002032 Esophageal atresia OMIM:192350 HOXD13 3239 HP:0002144 Tethered cord OMIM:192350 HOXD13 3239 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:192350 HOXD13 3239 HP:0001159 Syndactyly OMIM:192350 HOXD13 3239 HP:0000368 Low-set, posteriorly rotated ears OMIM:192350 HOXD13 3239 HP:0000175 Cleft palate OMIM:192350 HOXD13 3239 HP:0000048 Bifid scrotum OMIM:192350 HOXD13 3239 HP:0001539 Omphalocele OMIM:192350 HOXD13 3239 HP:0001739 Abnormality of the nasopharynx OMIM:192350 HOXD13 3239 HP:0100589 Urogenital fistula OMIM:192350 HOXD13 3239 HP:0008736 Hypoplasia of penis OMIM:192350 HOXD13 3239 HP:0000239 Large fontanelles OMIM:192350 HOXD13 3239 HP:0005107 Abnormality of the sacrum OMIM:192350 HOXD13 3239 HP:0000776 Congenital diaphragmatic hernia OMIM:192350 HOXD13 3239 HP:0003422 Vertebral segmentation defect OMIM:192350 HOXD13 3239 HP:0000772 Abnormality of the ribs OMIM:192350 HOXD13 3239 HP:0000104 Renal agenesis OMIM:192350 HOXD13 3239 HP:0001508 Failure to thrive OMIM:192350 HOXD13 3239 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:192350 HOXD13 3239 HP:0005108 Abnormality of the intervertebral disk OMIM:192350 HOXD13 3239 HP:0006101 Finger syndactyly OMIM:192350 HOXD13 3239 HP:0000453 Choanal atresia OMIM:192350 HOXD13 3239 HP:0000008 Abnormality of female internal genitalia OMIM:192350 HOXD13 3239 HP:0002650 Scoliosis OMIM:192350 HOXD13 3239 HP:0000076 Vesicoureteral reflux OMIM:192350 HOXD13 3239 HP:0001732 Abnormality of the pancreas OMIM:192350 HOXD13 3239 HP:0005264 Abnormality of the gallbladder OMIM:192350 HOXD13 3239 HP:0009778 Short thumb OMIM:192350 HOXD13 3239 HP:0000074 Ureteropelvic junction obstruction OMIM:192350 HOXD13 3239 HP:0001048 Cavernous hemangioma OMIM:192350 HOXD13 3239 HP:0100335 Non-midline cleft lip OMIM:192350 HOXD13 3239 HP:0100627 Displacement of the external urethral meatus OMIM:192350 HOXD13 3239 HP:0000028 Cryptorchidism OMIM:192350 HOXD13 3239 HP:0008678 Renal hypoplasia/aplasia OMIM:192350 HOXD13 3239 HP:0001669 Transposition of the great arteries OMIM:192350 HOXD13 3239 HP:0002414 Spina bifida OMIM:192350 HOXD13 3239 HP:0000126 Hydronephrosis OMIM:192350 HOXD13 3239 HP:0001177 Preaxial hand polydactyly OMIM:192350 HOXD13 3239 HP:0001622 Premature birth OMIM:192350 HOXD13 3239 HP:0000047 Hypospadias OMIM:192350 HOXD13 3239 HP:0100542 Abnormal localization of kidney OMIM:192350 HOXD13 3239 HP:0001601 Laryngomalacia OMIM:192350 HOXD13 3239 HP:0003745 Sporadic OMIM:192350 HOXD13 3239 HP:0002323 Anencephaly OMIM:192350 HOXD13 3239 HP:0002023 Anal atresia OMIM:192350 HOXD13 3239 HP:0010479 Patent urachus OMIM:192350 HOXD13 3239 HP:0000003 Multicystic kidney dysplasia OMIM:192350 HOXD13 3239 HP:0002974 Radioulnar synostosis OMIM:192350 HOXD13 3239 HP:0001602 Laryngeal stenosis OMIM:192350 HOXD13 3239 HP:0000110 Renal dysplasia OMIM:192350 HOXD13 3239 HP:0002084 Encephalocele OMIM:192350 HOXD13 3239 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:192350 HOXD13 3239 HP:0000086 Ectopic kidney ORPHANET:2020 SEPN1 57190 HP:0002205 Recurrent respiratory infections ORPHANET:2020 SEPN1 57190 HP:0003198 Myopathy ORPHANET:2020 SEPN1 57190 HP:0000767 Pectus excavatum ORPHANET:2020 SEPN1 57190 HP:0001252 Muscular hypotonia ORPHANET:2020 SEPN1 57190 HP:0002650 Scoliosis ORPHANET:2020 SEPN1 57190 HP:0001315 Reduced tendon reflexes ORPHANET:2020 ITGA7 3679 HP:0002205 Recurrent respiratory infections ORPHANET:2020 ITGA7 3679 HP:0003198 Myopathy ORPHANET:2020 ITGA7 3679 HP:0000767 Pectus excavatum ORPHANET:2020 ITGA7 3679 HP:0001252 Muscular hypotonia ORPHANET:2020 ITGA7 3679 HP:0002650 Scoliosis ORPHANET:2020 ITGA7 3679 HP:0001315 Reduced tendon reflexes ORPHANET:2020 TPM2 7169 HP:0002205 Recurrent respiratory infections ORPHANET:2020 TPM2 7169 HP:0003198 Myopathy ORPHANET:2020 TPM2 7169 HP:0000767 Pectus excavatum ORPHANET:2020 TPM2 7169 HP:0001252 Muscular hypotonia ORPHANET:2020 TPM2 7169 HP:0002650 Scoliosis ORPHANET:2020 TPM2 7169 HP:0001315 Reduced tendon reflexes ORPHANET:2020 ACTA1 58 HP:0002205 Recurrent respiratory infections ORPHANET:2020 ACTA1 58 HP:0003198 Myopathy ORPHANET:2020 ACTA1 58 HP:0000767 Pectus excavatum ORPHANET:2020 ACTA1 58 HP:0001252 Muscular hypotonia ORPHANET:2020 ACTA1 58 HP:0002650 Scoliosis ORPHANET:2020 ACTA1 58 HP:0001315 Reduced tendon reflexes ORPHANET:2020 HACD1 9200 HP:0002205 Recurrent respiratory infections ORPHANET:2020 HACD1 9200 HP:0003198 Myopathy ORPHANET:2020 HACD1 9200 HP:0000767 Pectus excavatum ORPHANET:2020 HACD1 9200 HP:0001252 Muscular hypotonia ORPHANET:2020 HACD1 9200 HP:0002650 Scoliosis ORPHANET:2020 HACD1 9200 HP:0001315 Reduced tendon reflexes ORPHANET:2020 TPM3 7170 HP:0002205 Recurrent respiratory infections ORPHANET:2020 TPM3 7170 HP:0003198 Myopathy ORPHANET:2020 TPM3 7170 HP:0000767 Pectus excavatum ORPHANET:2020 TPM3 7170 HP:0001252 Muscular hypotonia ORPHANET:2020 TPM3 7170 HP:0002650 Scoliosis ORPHANET:2020 TPM3 7170 HP:0001315 Reduced tendon reflexes ORPHANET:2020 MYL2 4633 HP:0002205 Recurrent respiratory infections ORPHANET:2020 MYL2 4633 HP:0003198 Myopathy ORPHANET:2020 MYL2 4633 HP:0000767 Pectus excavatum ORPHANET:2020 MYL2 4633 HP:0001252 Muscular hypotonia ORPHANET:2020 MYL2 4633 HP:0002650 Scoliosis ORPHANET:2020 MYL2 4633 HP:0001315 Reduced tendon reflexes OMIM:201000 RAB23 51715 HP:0001643 Patent ductus arteriosus OMIM:201000 RAB23 51715 HP:0000377 Abnormality of the pinna OMIM:201000 RAB23 51715 HP:0002700 Large foramen magnum OMIM:201000 RAB23 51715 HP:0000272 Malar flattening OMIM:201000 RAB23 51715 HP:0000826 Precocious puberty OMIM:201000 RAB23 51715 HP:0001513 Obesity OMIM:201000 RAB23 51715 HP:0001669 Transposition of the great arteries OMIM:201000 RAB23 51715 HP:0002857 Genu valgum OMIM:201000 RAB23 51715 HP:0000007 Autosomal recessive inheritance OMIM:201000 RAB23 51715 HP:0012385 Camptodactyly OMIM:201000 RAB23 51715 HP:0000028 Cryptorchidism OMIM:201000 RAB23 51715 HP:0010275 Pseudoepiphyses of the proximal phalanges of the hand OMIM:201000 RAB23 51715 HP:0000327 Hypoplasia of the maxilla OMIM:201000 RAB23 51715 HP:0005280 Depressed nasal bridge OMIM:201000 RAB23 51715 HP:0009608 Complete duplication of proximal phalanx of the thumb OMIM:201000 RAB23 51715 HP:0003298 Spina bifida occulta OMIM:201000 RAB23 51715 HP:0000407 Sensorineural hearing impairment OMIM:201000 RAB23 51715 HP:0009891 Underdeveloped supraorbital ridges OMIM:201000 RAB23 51715 HP:0009843 Aplasia/Hypoplasia of the middle phalanges of the hand OMIM:201000 RAB23 51715 HP:0004467 Preauricular pit OMIM:201000 RAB23 51715 HP:0006335 Persistence of primary teeth OMIM:201000 RAB23 51715 HP:0000072 Hydroureter OMIM:201000 RAB23 51715 HP:0002650 Scoliosis OMIM:201000 RAB23 51715 HP:0003241 External genital hypoplasia OMIM:201000 RAB23 51715 HP:0001642 Pulmonic stenosis OMIM:201000 RAB23 51715 HP:0001156 Brachydactyly syndrome OMIM:201000 RAB23 51715 HP:0000470 Short neck OMIM:201000 RAB23 51715 HP:0001770 Toe syndactyly OMIM:201000 RAB23 51715 HP:0010194 Aplasia/Hypoplasia of the middle phalanges of the toes OMIM:201000 RAB23 51715 HP:0004322 Short stature OMIM:201000 RAB23 51715 HP:0001629 Ventricular septal defect OMIM:201000 RAB23 51715 HP:0002059 Cerebral atrophy OMIM:201000 RAB23 51715 HP:0000218 High palate OMIM:201000 RAB23 51715 HP:0002970 Genu varum OMIM:201000 RAB23 51715 HP:0000347 Micrognathia OMIM:201000 RAB23 51715 HP:0000648 Optic atrophy OMIM:201000 RAB23 51715 HP:0004443 Lambdoidal craniosynostosis OMIM:201000 RAB23 51715 HP:0001636 Tetralogy of Fallot OMIM:201000 RAB23 51715 HP:0001840 Metatarsus adductus OMIM:201000 RAB23 51715 HP:0004209 Clinodactyly of the 5th finger OMIM:201000 RAB23 51715 HP:0009473 Joint contracture of the hand OMIM:201000 RAB23 51715 HP:0000960 Sacral dimple OMIM:201000 RAB23 51715 HP:0000286 Epicanthus OMIM:201000 RAB23 51715 HP:0002869 Flared iliac wings OMIM:201000 RAB23 51715 HP:0001162 Postaxial hand polydactyly OMIM:201000 RAB23 51715 HP:0001249 Intellectual disability OMIM:201000 RAB23 51715 HP:0000506 Telecanthus OMIM:201000 RAB23 51715 HP:0001631 Defect in the atrial septum OMIM:201000 RAB23 51715 HP:0001539 Omphalocele OMIM:201000 RAB23 51715 HP:0003182 Shallow acetabular fossae OMIM:201000 RAB23 51715 HP:0004440 Coronal craniosynostosis OMIM:201000 RAB23 51715 HP:0001537 Umbilical hernia OMIM:201000 RAB23 51715 HP:0001841 Preaxial foot polydactyly OMIM:201000 RAB23 51715 HP:0000405 Conductive hearing impairment OMIM:201000 RAB23 51715 HP:0006397 Lateral displacement of patellae OMIM:201000 RAB23 51715 HP:0000126 Hydronephrosis OMIM:201000 RAB23 51715 HP:0000369 Low-set ears OMIM:201000 RAB23 51715 HP:0006349 Agenesis of permanent teeth OMIM:201000 RAB23 51715 HP:0000482 Microcornea OMIM:201000 RAB23 51715 HP:0007759 Opacification of the corneal stroma OMIM:201000 RAB23 51715 HP:0002673 Coxa valga OMIM:201000 RAB23 51715 HP:0010093 Duplication of the proximal phalanx of the hallux OMIM:201000 RAB23 51715 HP:0000248 Brachycephaly OMIM:201000 RAB23 51715 HP:0004442 Sagittal craniosynostosis OMIM:201000 RAB23 51715 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:201000 RAB23 51715 HP:0011800 Midface retrusion OMIM:201000 RAB23 51715 HP:0001748 Polysplenia OMIM:600373 LONP1 9361 HP:0000407 Sensorineural hearing impairment OMIM:600373 LONP1 9361 HP:0001604 Vocal cord paresis OMIM:600373 LONP1 9361 HP:0002023 Anal atresia OMIM:600373 LONP1 9361 HP:0001252 Muscular hypotonia OMIM:600373 LONP1 9361 HP:0003272 Abnormality of the hip bone OMIM:600373 LONP1 9361 HP:0003196 Short nose OMIM:600373 LONP1 9361 HP:0000028 Cryptorchidism OMIM:600373 LONP1 9361 HP:0001163 Abnormality of the metacarpal bones OMIM:600373 LONP1 9361 HP:0100543 Cognitive impairment OMIM:600373 LONP1 9361 HP:0000143 Rectovaginal fistula OMIM:600373 LONP1 9361 HP:0000486 Strabismus OMIM:600373 LONP1 9361 HP:0002857 Genu valgum OMIM:600373 LONP1 9361 HP:0000007 Autosomal recessive inheritance OMIM:600373 LONP1 9361 HP:0003177 Squared iliac bones OMIM:600373 LONP1 9361 HP:0003417 Coronal cleft vertebrae OMIM:600373 LONP1 9361 HP:0005280 Depressed nasal bridge OMIM:600373 LONP1 9361 HP:0006695 Atrioventricular canal defect OMIM:600373 LONP1 9361 HP:0001263 Global developmental delay OMIM:600373 LONP1 9361 HP:0000286 Epicanthus OMIM:600373 LONP1 9361 HP:0004322 Short stature OMIM:600373 LONP1 9361 HP:0000272 Malar flattening OMIM:600373 LONP1 9361 HP:0001539 Omphalocele OMIM:600373 LONP1 9361 HP:0010935 Abnormality of the upper urinary tract OMIM:600373 LONP1 9361 HP:0009803 Short phalanx of finger OMIM:600373 LONP1 9361 HP:0000463 Anteverted nares OMIM:600373 LONP1 9361 HP:0000508 Ptosis OMIM:600373 LONP1 9361 HP:0000684 Delayed eruption of teeth OMIM:600373 LONP1 9361 HP:0006297 Hypoplasia of dental enamel OMIM:600373 LONP1 9361 HP:0003311 Hypoplasia of the odontoid process OMIM:600373 LONP1 9361 HP:0002750 Delayed skeletal maturation OMIM:600373 LONP1 9361 HP:0010049 Short metacarpal OMIM:600373 LONP1 9361 HP:0001561 Polyhydramnios OMIM:600373 LONP1 9361 HP:0000639 Nystagmus OMIM:600373 LONP1 9361 HP:0001374 Congenital hip dislocation OMIM:600373 LONP1 9361 HP:0005792 Short humerus OMIM:600373 LONP1 9361 HP:0006482 Abnormality of dental morphology OMIM:600373 LONP1 9361 HP:0004122 Midline defect of the nose OMIM:600373 LONP1 9361 HP:0003312 Abnormal form of the vertebral bodies OMIM:600373 LONP1 9361 HP:0001629 Ventricular septal defect OMIM:600373 LONP1 9361 HP:0002079 Hypoplasia of the corpus callosum OMIM:600373 LONP1 9361 HP:0001250 Seizures OMIM:600373 LONP1 9361 HP:0000518 Cataract OMIM:600373 LONP1 9361 HP:0001156 Brachydactyly syndrome OMIM:600373 LONP1 9361 HP:0000682 Abnormality of dental enamel OMIM:600373 LONP1 9361 HP:0005930 Abnormality of epiphysis morphology OMIM:600373 LONP1 9361 HP:0001216 Delayed ossification of carpal bones OMIM:600373 LONP1 9361 HP:0002650 Scoliosis OMIM:600373 LONP1 9361 HP:0000396 Overfolded helix OMIM:600373 LONP1 9361 HP:0005242 Extrahepatic biliary duct atresia OMIM:600373 LONP1 9361 HP:0000519 Congenital cataract OMIM:600373 LONP1 9361 HP:0001631 Defect in the atrial septum OMIM:600373 LONP1 9361 HP:0009623 Proximal placement of thumb OMIM:600373 LONP1 9361 HP:0001382 Joint hypermobility OMIM:600373 LONP1 9361 HP:0002682 Broad skull OMIM:600373 LONP1 9361 HP:0100255 Metaphyseal dysplasia OMIM:610204 TSEN54 283989 HP:0000007 Autosomal recessive inheritance OMIM:610204 TSEN54 283989 HP:0000252 Microcephaly OMIM:610204 TSEN54 283989 HP:0006955 Olivopontocerebellar hypoplasia OMIM:610204 TSEN54 283989 HP:0001250 Seizures OMIM:300842 XK 7504 HP:0002197 Generalized seizures OMIM:300842 XK 7504 HP:0003236 Elevated serum creatine phosphokinase OMIM:300842 XK 7504 HP:0001638 Cardiomyopathy OMIM:300842 XK 7504 HP:0001324 Muscle weakness OMIM:300842 XK 7504 HP:0001927 Acanthocytosis OMIM:608361 ACAN 176 HP:0002758 Osteoarthritis OMIM:608361 ACAN 176 HP:0004322 Short stature OMIM:608361 ACAN 176 HP:0000926 Platyspondyly OMIM:608361 ACAN 176 HP:0005930 Abnormality of epiphysis morphology OMIM:608361 ACAN 176 HP:0002652 Skeletal dysplasia OMIM:608361 ACAN 176 HP:0003370 Flat capital femoral epiphysis OMIM:608361 ACAN 176 HP:0002655 Spondyloepiphyseal dysplasia OMIM:608361 ACAN 176 HP:0002750 Delayed skeletal maturation OMIM:608361 ACAN 176 HP:0000006 Autosomal dominant inheritance OMIM:608361 ACAN 176 HP:0010306 Short thorax OMIM:608361 ACAN 176 HP:0002857 Genu valgum OMIM:608361 ACAN 176 HP:0003508 Proportionate short stature OMIM:608361 ACAN 176 HP:0002970 Genu varum OMIM:608361 ACAN 176 HP:0002983 Micromelia OMIM:608361 ACAN 176 HP:0003312 Abnormal form of the vertebral bodies OMIM:264300 HSD17B3 3293 HP:0000037 Male pseudohermaphroditism OMIM:264300 HSD17B3 3293 HP:0000771 Gynecomastia OMIM:264300 HSD17B3 3293 HP:0000028 Cryptorchidism OMIM:264300 HSD17B3 3293 HP:0000062 Ambiguous genitalia OMIM:264300 HSD17B3 3293 HP:0000795 Abnormality of the urethra OMIM:264300 HSD17B3 3293 HP:0001939 Abnormality of metabolism/homeostasis OMIM:264300 HSD17B3 3293 HP:0000821 Hypothyroidism OMIM:264300 HSD17B3 3293 HP:0000789 Infertility OMIM:264300 HSD17B3 3293 HP:0000144 Decreased fertility OMIM:264300 HSD17B3 3293 HP:0000007 Autosomal recessive inheritance OMIM:201100 SLC39A4 55630 HP:0008388 Abnormality of the toenails OMIM:201100 SLC39A4 55630 HP:0200042 Skin ulcer OMIM:201100 SLC39A4 55630 HP:0002293 Alopecia of scalp OMIM:201100 SLC39A4 55630 HP:0000534 Abnormality of the eyebrow OMIM:201100 SLC39A4 55630 HP:0200039 Pustule OMIM:201100 SLC39A4 55630 HP:0002014 Diarrhea OMIM:201100 SLC39A4 55630 HP:0005401 Recurrent candida infections OMIM:201100 SLC39A4 55630 HP:0008734 Decreased testicular size OMIM:201100 SLC39A4 55630 HP:0000206 Glossitis OMIM:201100 SLC39A4 55630 HP:0000224 Decreased taste sensation OMIM:201100 SLC39A4 55630 HP:0002039 Anorexia OMIM:201100 SLC39A4 55630 HP:0100825 Cheilitis OMIM:201100 SLC39A4 55630 HP:0003282 Low alkaline phosphatase OMIM:201100 SLC39A4 55630 HP:0000712 Emotional lability OMIM:201100 SLC39A4 55630 HP:0000613 Photophobia OMIM:201100 SLC39A4 55630 HP:0000007 Autosomal recessive inheritance OMIM:201100 SLC39A4 55630 HP:0000135 Hypogonadism OMIM:201100 SLC39A4 55630 HP:0001231 Abnormality of the fingernails OMIM:201100 SLC39A4 55630 HP:0005435 Impaired T cell function OMIM:201100 SLC39A4 55630 HP:0004396 Poor appetite OMIM:201100 SLC39A4 55630 HP:0008066 Abnormal blistering of the skin OMIM:201100 SLC39A4 55630 HP:0001508 Failure to thrive OMIM:201100 SLC39A4 55630 HP:0000505 Visual impairment OMIM:201100 SLC39A4 55630 HP:0000958 Dry skin OMIM:201100 SLC39A4 55630 HP:0001596 Alopecia OMIM:201100 SLC39A4 55630 HP:0001251 Ataxia OMIM:201100 SLC39A4 55630 HP:0008230 Decreased testosterone in males OMIM:201100 SLC39A4 55630 HP:0002120 Cerebral cortical atrophy OMIM:201100 SLC39A4 55630 HP:0003593 Infantile onset OMIM:201100 SLC39A4 55630 HP:0000221 Furrowed tongue OMIM:201100 SLC39A4 55630 HP:0001254 Lethargy OMIM:201100 SLC39A4 55630 HP:0002240 Hepatomegaly OMIM:201100 SLC39A4 55630 HP:0001818 Paronychia OMIM:201100 SLC39A4 55630 HP:0001744 Splenomegaly OMIM:201100 SLC39A4 55630 HP:0002024 Malabsorption OMIM:201100 SLC39A4 55630 HP:0200020 Corneal erosion OMIM:201100 SLC39A4 55630 HP:0100533 Inflammatory abnormality of the eye OMIM:201100 SLC39A4 55630 HP:0001824 Weight loss OMIM:201100 SLC39A4 55630 HP:0000737 Irritability OMIM:201100 SLC39A4 55630 HP:0004322 Short stature OMIM:201100 SLC39A4 55630 HP:0001337 Tremor OMIM:601003 ATP2A1 487 HP:0000007 Autosomal recessive inheritance OMIM:601003 ATP2A1 487 HP:0003394 Muscle cramps OMIM:614863 PEX6 5190 HP:0001319 Neonatal hypotonia OMIM:614863 PEX6 5190 HP:0000556 Retinal dystrophy OMIM:614863 PEX6 5190 HP:0000007 Autosomal recessive inheritance OMIM:614863 PEX6 5190 HP:0001263 Global developmental delay OMIM:614863 PEX6 5190 HP:0000505 Visual impairment OMIM:614863 PEX6 5190 HP:0001251 Ataxia OMIM:614863 PEX6 5190 HP:0000510 Retinitis pigmentosa OMIM:614863 PEX6 5190 HP:0000407 Sensorineural hearing impairment OMIM:608681 MESP2 145873 HP:0002205 Recurrent respiratory infections OMIM:608681 MESP2 145873 HP:0002111 Restrictive respiratory insufficiency OMIM:608681 MESP2 145873 HP:0003422 Vertebral segmentation defect OMIM:608681 MESP2 145873 HP:0003521 Disproportionate short-trunk short stature OMIM:608681 MESP2 145873 HP:0000902 Rib fusion OMIM:608681 MESP2 145873 HP:0000470 Short neck OMIM:608681 MESP2 145873 HP:0000007 Autosomal recessive inheritance OMIM:609053 FANCI 55215 HP:0003221 Chromosomal breakage induced by crosslinking agents OMIM:609053 FANCI 55215 HP:0012210 Abnormal renal morphology OMIM:609053 FANCI 55215 HP:0004322 Short stature OMIM:609053 FANCI 55215 HP:0000007 Autosomal recessive inheritance OMIM:609053 FANCI 55215 HP:0005528 Bone marrow hypocellularity OMIM:609053 FANCI 55215 HP:0002564 Malformation of the heart and great vessels OMIM:242300 TGM1 7051 HP:0001006 Hypotrichosis OMIM:242300 TGM1 7051 HP:0000232 Everted lower lip vermilion OMIM:242300 TGM1 7051 HP:0007549 Desquamation of skin soon after birth OMIM:242300 TGM1 7051 HP:0008404 Nail dystrophy OMIM:242300 TGM1 7051 HP:0007431 Congenital ichthyosiform erythroderma OMIM:242300 TGM1 7051 HP:0001371 Flexion contracture OMIM:242300 TGM1 7051 HP:0001596 Alopecia OMIM:242300 TGM1 7051 HP:0000007 Autosomal recessive inheritance OMIM:242300 TGM1 7051 HP:0000656 Ectropion OMIM:242300 TGM1 7051 HP:0002164 Nail dysplasia OMIM:242300 TGM1 7051 HP:0001019 Erythroderma OMIM:615758 LCK 3932 HP:0002205 Recurrent respiratory infections OMIM:615758 LCK 3932 HP:0012490 Panniculitis OMIM:615758 LCK 3932 HP:0001508 Failure to thrive OMIM:615758 LCK 3932 HP:0002014 Diarrhea OMIM:615758 LCK 3932 HP:0002721 Immunodeficiency OMIM:615758 LCK 3932 HP:0002960 Autoimmunity OMIM:616248 ZBTB42 100128927 HP:0000256 Macrocephaly OMIM:616248 ZBTB42 100128927 HP:0001558 Decreased fetal movement OMIM:310500 NYX 60506 HP:0011003 Severe Myopia OMIM:310500 NYX 60506 HP:0001419 X-linked recessive inheritance OMIM:310500 NYX 60506 HP:0012047 Hemeralopia OMIM:310500 NYX 60506 HP:0007642 Congenital stationary night blindness OMIM:171400 RET 5979 HP:0002865 Medullary thyroid carcinoma OMIM:171400 RET 5979 HP:0002666 Pheochromocytoma OMIM:171400 RET 5979 HP:0001574 Abnormality of the integument OMIM:171400 RET 5979 HP:0000822 Hypertension OMIM:171400 RET 5979 HP:0003528 Elevated calcitonin OMIM:171400 RET 5979 HP:0000843 Hyperparathyroidism OMIM:171400 RET 5979 HP:0000006 Autosomal dominant inheritance OMIM:171400 RET 5979 HP:0002251 Aganglionic megacolon OMIM:171400 RET 5979 HP:0001578 Hypercortisolism OMIM:171400 RET 5979 HP:0003639 Elevated urinary epinephrine OMIM:171400 RET 5979 HP:0002897 Parathyroid adenoma OMIM:182230 HESX1 8820 HP:0009381 Short finger OMIM:182230 HESX1 8820 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:182230 HESX1 8820 HP:0000830 Anterior hypopituitarism OMIM:182230 HESX1 8820 HP:0004408 Abnormality of the sense of smell OMIM:182230 HESX1 8820 HP:0000028 Cryptorchidism OMIM:182230 HESX1 8820 HP:0004322 Short stature OMIM:182230 HESX1 8820 HP:0000639 Nystagmus OMIM:182230 HESX1 8820 HP:0000007 Autosomal recessive inheritance OMIM:182230 HESX1 8820 HP:0000648 Optic atrophy OMIM:182230 HESX1 8820 HP:0002019 Constipation OMIM:182230 HESX1 8820 HP:0100842 Septo-optic dysplasia OMIM:182230 HESX1 8820 HP:0007766 Optic disc hypoplasia OMIM:182230 HESX1 8820 HP:0012211 Abnormal renal physiology OMIM:182230 HESX1 8820 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:182230 HESX1 8820 HP:0000407 Sensorineural hearing impairment OMIM:182230 HESX1 8820 HP:0009800 Maternal diabetes OMIM:182230 HESX1 8820 HP:0000609 Optic nerve hypoplasia OMIM:182230 HESX1 8820 HP:0000966 Hypohidrosis OMIM:182230 HESX1 8820 HP:0002360 Sleep disturbance OMIM:182230 HESX1 8820 HP:0008736 Hypoplasia of penis OMIM:182230 HESX1 8820 HP:0000958 Dry skin OMIM:182230 HESX1 8820 HP:0002564 Malformation of the heart and great vessels OMIM:182230 HESX1 8820 HP:0002575 Tracheoesophageal fistula OMIM:182230 HESX1 8820 HP:0010442 Polydactyly OMIM:182230 HESX1 8820 HP:0000006 Autosomal dominant inheritance OMIM:182230 HESX1 8820 HP:0000505 Visual impairment OMIM:182230 HESX1 8820 HP:0001274 Agenesis of corpus callosum OMIM:182230 HESX1 8820 HP:0000717 Autism OMIM:182230 HESX1 8820 HP:0000486 Strabismus OMIM:182230 HESX1 8820 HP:0000873 Diabetes insipidus OMIM:182230 HESX1 8820 HP:0004374 Hemiplegia/hemiparesis OMIM:182230 HESX1 8820 HP:0003812 Phenotypic variability OMIM:182230 HESX1 8820 HP:0001250 Seizures OMIM:182230 HESX1 8820 HP:0001513 Obesity OMIM:182230 HESX1 8820 HP:0000824 Growth hormone deficiency OMIM:182230 HESX1 8820 HP:0001331 Absent septum pellucidum OMIM:182230 HESX1 8820 HP:0100543 Cognitive impairment OMIM:182230 HESX1 8820 HP:0010627 Anterior pituitary hypoplasia OMIM:182230 HESX1 8820 HP:0001263 Global developmental delay OMIM:182230 HESX1 8820 HP:0000175 Cleft palate OMIM:600977 PITPNM3 83394 HP:0000551 Abnormality of color vision OMIM:600977 PITPNM3 83394 HP:0000548 Cone-rod dystrophy OMIM:600977 PITPNM3 83394 HP:0000608 Macular degeneration OMIM:600977 PITPNM3 83394 HP:0000006 Autosomal dominant inheritance OMIM:600977 PITPNM3 83394 HP:0000613 Photophobia OMIM:600977 PITPNM3 83394 HP:0008008 Progressive central visual loss OMIM:108600 VAMP1 6843 HP:0000508 Ptosis OMIM:108600 VAMP1 6843 HP:0001332 Dystonia OMIM:108600 VAMP1 6843 HP:0000605 Supranuclear gaze palsy OMIM:108600 VAMP1 6843 HP:0001288 Gait disturbance OMIM:108600 VAMP1 6843 HP:0002354 Memory impairment OMIM:108600 VAMP1 6843 HP:0000006 Autosomal dominant inheritance OMIM:108600 VAMP1 6843 HP:0001258 Spastic paraplegia OMIM:108600 VAMP1 6843 HP:0001761 Pes cavus OMIM:108600 VAMP1 6843 HP:0002015 Dysphagia OMIM:108600 VAMP1 6843 HP:0001347 Hyperreflexia OMIM:108600 VAMP1 6843 HP:0001260 Dysarthria OMIM:108600 VAMP1 6843 HP:0008969 Leg muscle stiffness OMIM:108600 VAMP1 6843 HP:0002497 Spastic ataxia OMIM:108600 VAMP1 6843 HP:0000514 Slow saccadic eye movements OMIM:608836 CPT2 1376 HP:0011936 Decreased plasma total carnitine OMIM:608836 CPT2 1376 HP:0001274 Agenesis of corpus callosum OMIM:608836 CPT2 1376 HP:0006799 Basal ganglia cysts OMIM:608836 CPT2 1376 HP:0009058 Increased muscle lipid content OMIM:608836 CPT2 1376 HP:0000126 Hydronephrosis OMIM:608836 CPT2 1376 HP:0000003 Multicystic kidney dysplasia OMIM:608836 CPT2 1376 HP:0001250 Seizures OMIM:608836 CPT2 1376 HP:0000105 Enlarged kidneys OMIM:608836 CPT2 1376 HP:0002126 Polymicrogyria OMIM:608836 CPT2 1376 HP:0001958 Nonketotic hypoglycemia OMIM:608836 CPT2 1376 HP:0011309 Tapered toe OMIM:608836 CPT2 1376 HP:0001987 Hyperammonemia OMIM:608836 CPT2 1376 HP:0001403 Macrovesicular hepatic steatosis OMIM:608836 CPT2 1376 HP:0000369 Low-set ears OMIM:608836 CPT2 1376 HP:0000340 Sloping forehead OMIM:608836 CPT2 1376 HP:0000252 Microcephaly OMIM:608836 CPT2 1376 HP:0000113 Polycystic kidney dysplasia OMIM:608836 CPT2 1376 HP:0010511 Long toe OMIM:608836 CPT2 1376 HP:0000358 Posteriorly rotated ears OMIM:608836 CPT2 1376 HP:0006559 Hepatic calcification OMIM:608836 CPT2 1376 HP:0001182 Tapered finger OMIM:608836 CPT2 1376 HP:0000414 Bulbous nose OMIM:608836 CPT2 1376 HP:0000396 Overfolded helix OMIM:608836 CPT2 1376 HP:0002098 Respiratory distress OMIM:608836 CPT2 1376 HP:0003573 Increased total bilirubin OMIM:608836 CPT2 1376 HP:0000073 Ureteral duplication OMIM:608836 CPT2 1376 HP:0000083 Renal insufficiency OMIM:608836 CPT2 1376 HP:0002104 Apnea OMIM:608836 CPT2 1376 HP:0001640 Cardiomegaly OMIM:608836 CPT2 1376 HP:0001943 Hypoglycemia OMIM:608836 CPT2 1376 HP:0002910 Elevated hepatic transaminases OMIM:608836 CPT2 1376 HP:0008315 Decreased plasma free carnitine OMIM:608836 CPT2 1376 HP:0001760 Abnormality of the foot OMIM:608836 CPT2 1376 HP:0002514 Cerebral calcification OMIM:608836 CPT2 1376 HP:0000218 High palate OMIM:608836 CPT2 1376 HP:0001800 Hypoplastic toenails OMIM:608836 CPT2 1376 HP:0045016 Elevated serum long-chain fatty acids OMIM:608836 CPT2 1376 HP:0000189 Narrow palate OMIM:608836 CPT2 1376 HP:0002119 Ventriculomegaly OMIM:608836 CPT2 1376 HP:0002987 Elbow flexion contracture OMIM:608836 CPT2 1376 HP:0000348 High forehead OMIM:608836 CPT2 1376 HP:0002240 Hepatomegaly OMIM:608836 CPT2 1376 HP:0000007 Autosomal recessive inheritance OMIM:608836 CPT2 1376 HP:0008293 Long-chain dicarboxylic aciduria OMIM:608836 CPT2 1376 HP:0000518 Cataract OMIM:608836 CPT2 1376 HP:0011220 Prominent forehead OMIM:608836 CPT2 1376 HP:0001644 Dilated cardiomyopathy OMIM:608836 CPT2 1376 HP:0001562 Oligohydramnios OMIM:608836 CPT2 1376 HP:0007023 Antenatal intracerebral hemorrhage OMIM:608836 CPT2 1376 HP:0006561 Lipid accumulation in hepatocytes OMIM:608836 CPT2 1376 HP:0006610 Wide intermamillary distance OMIM:608836 CPT2 1376 HP:0008872 Feeding difficulties in infancy OMIM:608836 CPT2 1376 HP:0011675 Arrhythmia OMIM:608836 CPT2 1376 HP:0006380 Knee flexion contracture OMIM:608836 CPT2 1376 HP:0001254 Lethargy OMIM:608836 CPT2 1376 HP:0002878 Respiratory failure OMIM:608836 CPT2 1376 HP:0007229 Intracerebral periventricular calcifications OMIM:608836 CPT2 1376 HP:0001319 Neonatal hypotonia OMIM:610381 RAX2 84839 HP:0000006 Autosomal dominant inheritance OMIM:610381 RAX2 84839 HP:0000608 Macular degeneration OMIM:610381 RAX2 84839 HP:0000548 Cone-rod dystrophy OMIM:300635 XIAP 331 HP:0002155 Hypertriglyceridemia OMIM:300635 XIAP 331 HP:0003281 Increased serum ferritin OMIM:300635 XIAP 331 HP:0001417 X-linked inheritance OMIM:300635 XIAP 331 HP:0011900 Hypofibrinogenemia OMIM:300635 XIAP 331 HP:0001744 Splenomegaly OMIM:300635 XIAP 331 HP:0012156 Hemophagocytosis OMIM:300635 XIAP 331 HP:0012115 Hepatitis OMIM:300635 XIAP 331 HP:0004313 Hypogammaglobulinemia OMIM:300635 XIAP 331 HP:0001945 Fever OMIM:608957 CD8A 925 HP:0003577 Congenital onset OMIM:608957 CD8A 925 HP:0002718 Recurrent bacterial infections OMIM:608957 CD8A 925 HP:0005422 Absence of CD8+ T cells OMIM:608957 CD8A 925 HP:0004429 Recurrent viral infections OMIM:608957 CD8A 925 HP:0002205 Recurrent respiratory infections OMIM:608957 CD8A 925 HP:0000007 Autosomal recessive inheritance OMIM:608957 CD8A 925 HP:0002110 Bronchiectasis OMIM:604537 LCA5 167691 HP:0000639 Nystagmus OMIM:604537 LCA5 167691 HP:0000550 Abolished electroretinogram (ERG) OMIM:604537 LCA5 167691 HP:0000007 Autosomal recessive inheritance OMIM:604537 LCA5 167691 HP:0000505 Visual impairment OMIM:604537 LCA5 167691 HP:0000540 Hypermetropia OMIM:269700 BSCL2 26580 HP:0009125 Lipodystrophy OMIM:269700 BSCL2 26580 HP:0000303 Mandibular prognathia OMIM:269700 BSCL2 26580 HP:0001735 Acute pancreatitis OMIM:269700 BSCL2 26580 HP:0003809 Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) OMIM:269700 BSCL2 26580 HP:0003577 Congenital onset OMIM:269700 BSCL2 26580 HP:0001537 Umbilical hernia OMIM:269700 BSCL2 26580 HP:0002591 Polyphagia OMIM:269700 BSCL2 26580 HP:0000144 Decreased fertility OMIM:269700 BSCL2 26580 HP:0000007 Autosomal recessive inheritance OMIM:269700 BSCL2 26580 HP:0001544 Prominent umbilicus OMIM:269700 BSCL2 26580 HP:0000956 Acanthosis nigricans OMIM:269700 BSCL2 26580 HP:0000065 Labial hypertrophy OMIM:269700 BSCL2 26580 HP:0001176 Large hands OMIM:269700 BSCL2 26580 HP:0002155 Hypertriglyceridemia OMIM:269700 BSCL2 26580 HP:0000868 Decreased fertility in females OMIM:269700 BSCL2 26580 HP:0001256 Intellectual disability, mild OMIM:269700 BSCL2 26580 HP:0003716 Generalized muscular appearance from birth OMIM:269700 BSCL2 26580 HP:0000842 Hyperinsulinemia OMIM:269700 BSCL2 26580 HP:0002240 Hepatomegaly OMIM:269700 BSCL2 26580 HP:0000147 Polycystic ovaries OMIM:269700 BSCL2 26580 HP:0001007 Hirsutism OMIM:269700 BSCL2 26580 HP:0000057 Clitoromegaly OMIM:269700 BSCL2 26580 HP:0001639 Hypertrophic cardiomyopathy OMIM:269700 BSCL2 26580 HP:0001394 Cirrhosis OMIM:269700 BSCL2 26580 HP:0005616 Accelerated skeletal maturation OMIM:269700 BSCL2 26580 HP:0001397 Hepatic steatosis OMIM:269700 BSCL2 26580 HP:0002833 Cystic angiomatosis of bone OMIM:269700 BSCL2 26580 HP:0003292 Decreased serum leptin OMIM:269700 BSCL2 26580 HP:0000098 Tall stature OMIM:269700 BSCL2 26580 HP:0001744 Splenomegaly OMIM:269700 BSCL2 26580 HP:0000877 Insulin-resistant diabetes mellitus at puberty OMIM:269700 BSCL2 26580 HP:0001833 Long foot OMIM:300438 HSD17B10 3028 HP:0001252 Muscular hypotonia OMIM:300438 HSD17B10 3028 HP:0001943 Hypoglycemia OMIM:300438 HSD17B10 3028 HP:0000639 Nystagmus OMIM:300438 HSD17B10 3028 HP:0000750 Delayed speech and language development OMIM:300438 HSD17B10 3028 HP:0001263 Global developmental delay OMIM:300438 HSD17B10 3028 HP:0000407 Sensorineural hearing impairment OMIM:300438 HSD17B10 3028 HP:0003593 Infantile onset OMIM:300438 HSD17B10 3028 HP:0001266 Choreoathetosis OMIM:300438 HSD17B10 3028 HP:0003128 Lactic acidosis OMIM:300438 HSD17B10 3028 HP:0001942 Metabolic acidosis OMIM:300438 HSD17B10 3028 HP:0001250 Seizures OMIM:300438 HSD17B10 3028 HP:0000546 Retinal degeneration OMIM:300438 HSD17B10 3028 HP:0000711 Restlessness OMIM:300438 HSD17B10 3028 HP:0001423 X-linked dominant inheritance OMIM:300438 HSD17B10 3028 HP:0001639 Hypertrophic cardiomyopathy OMIM:300438 HSD17B10 3028 HP:0002376 Developmental regression OMIM:300438 HSD17B10 3028 HP:0001249 Intellectual disability OMIM:300438 HSD17B10 3028 HP:0002344 Progressive neurologic deterioration OMIM:615436 PRKG1 5592 HP:0012727 Thoracic aortic aneurysm OMIM:615436 PRKG1 5592 HP:0004953 Abdominal aortic aneurysm OMIM:615436 PRKG1 5592 HP:0000006 Autosomal dominant inheritance OMIM:193100 FGF23 8074 HP:0000934 Chondrocalcinosis OMIM:193100 FGF23 8074 HP:0002814 Abnormality of the lower limb OMIM:193100 FGF23 8074 HP:0004322 Short stature OMIM:193100 FGF23 8074 HP:0003416 Spinal canal stenosis OMIM:193100 FGF23 8074 HP:0000164 Abnormality of the teeth OMIM:193100 FGF23 8074 HP:0002148 Hypophosphatemia OMIM:193100 FGF23 8074 HP:0000117 Renal phosphate wasting OMIM:193100 FGF23 8074 HP:0002653 Bone pain OMIM:193100 FGF23 8074 HP:0004912 Hypophosphatemic rickets OMIM:193100 FGF23 8074 HP:0000006 Autosomal dominant inheritance OMIM:193100 FGF23 8074 HP:0004349 Reduced bone mineral density OMIM:193100 FGF23 8074 HP:0002749 Osteomalacia OMIM:193100 FGF23 8074 HP:0002086 Abnormality of the respiratory system OMIM:193100 FGF23 8074 HP:0003829 Incomplete penetrance OMIM:193100 FGF23 8074 HP:0001635 Congestive heart failure OMIM:193100 FGF23 8074 HP:0002757 Recurrent fractures OMIM:193100 FGF23 8074 HP:0001250 Seizures OMIM:193100 FGF23 8074 HP:0001637 Abnormality of the myocardium OMIM:193100 FGF23 8074 HP:0001324 Muscle weakness OMIM:193100 FGF23 8074 HP:0003155 Elevated alkaline phosphatase OMIM:193100 FGF23 8074 HP:0003324 Generalized muscle weakness OMIM:193100 FGF23 8074 HP:0004372 Reduced consciousness/confusion OMIM:615352 GMPPB 29925 HP:0000007 Autosomal recessive inheritance OMIM:615352 GMPPB 29925 HP:0001252 Muscular hypotonia OMIM:615352 GMPPB 29925 HP:0001638 Cardiomyopathy OMIM:615352 GMPPB 29925 HP:0003812 Phenotypic variability OMIM:615352 GMPPB 29925 HP:0000639 Nystagmus OMIM:615352 GMPPB 29925 HP:0003560 Muscular dystrophy OMIM:615352 GMPPB 29925 HP:0001256 Intellectual disability, mild OMIM:615352 GMPPB 29925 HP:0002093 Respiratory insufficiency OMIM:615352 GMPPB 29925 HP:0000252 Microcephaly OMIM:615352 GMPPB 29925 HP:0001324 Muscle weakness OMIM:615352 GMPPB 29925 HP:0001250 Seizures OMIM:615352 GMPPB 29925 HP:0000518 Cataract OMIM:615352 GMPPB 29925 HP:0003546 Exercise intolerance OMIM:615352 GMPPB 29925 HP:0003236 Elevated serum creatine phosphokinase OMIM:112240 P4HB 5034 HP:0001334 Communicating hydrocephalus OMIM:112240 P4HB 5034 HP:0000938 Osteopenia OMIM:112240 P4HB 5034 HP:0011800 Midface retrusion OMIM:112240 P4HB 5034 HP:0000586 Shallow orbits OMIM:112240 P4HB 5034 HP:0005472 Orbital craniosynostosis OMIM:112240 P4HB 5034 HP:0002953 Vertebral compression fractures OMIM:112240 P4HB 5034 HP:0004322 Short stature OMIM:112240 P4HB 5034 HP:0000347 Micrognathia OMIM:112240 P4HB 5034 HP:0001620 High pitched voice OMIM:112240 P4HB 5034 HP:0004440 Coronal craniosynostosis OMIM:112240 P4HB 5034 HP:0000006 Autosomal dominant inheritance OMIM:112240 P4HB 5034 HP:0000691 Microdontia OMIM:112240 P4HB 5034 HP:0002007 Frontal bossing OMIM:112240 P4HB 5034 HP:0002757 Recurrent fractures OMIM:609508 COL2A1 1280 HP:0000545 Myopia OMIM:609508 COL2A1 1280 HP:0000006 Autosomal dominant inheritance OMIM:609508 COL2A1 1280 HP:0004327 Abnormality of the vitreous humor OMIM:609508 COL2A1 1280 HP:0012230 Rhegmatogenous retinal detachment OMIM:614388 DNM1L 10059 HP:0000648 Optic atrophy OMIM:614388 DNM1L 10059 HP:0001298 Encephalopathy OMIM:614388 DNM1L 10059 HP:0000252 Microcephaly OMIM:614388 DNM1L 10059 HP:0001558 Decreased fetal movement OMIM:614388 DNM1L 10059 HP:0001508 Failure to thrive OMIM:614388 DNM1L 10059 HP:0001284 Areflexia OMIM:614388 DNM1L 10059 HP:0011968 Feeding difficulties OMIM:614388 DNM1L 10059 HP:0001522 Death in infancy OMIM:614388 DNM1L 10059 HP:0000490 Deeply set eye OMIM:614388 DNM1L 10059 HP:0000006 Autosomal dominant inheritance OMIM:614388 DNM1L 10059 HP:0001252 Muscular hypotonia OMIM:614388 DNM1L 10059 HP:0000666 Horizontal nystagmus OMIM:614388 DNM1L 10059 HP:0003128 Lactic acidosis OMIM:614388 DNM1L 10059 HP:0000307 Pointed chin OMIM:176807 MAD1L1 8379 HP:0012125 Prostate cancer OMIM:176807 MAD1L1 8379 HP:0000006 Autosomal dominant inheritance OMIM:176807 AR 367 HP:0012125 Prostate cancer OMIM:176807 AR 367 HP:0000006 Autosomal dominant inheritance OMIM:176807 MSR1 4481 HP:0012125 Prostate cancer OMIM:176807 MSR1 4481 HP:0000006 Autosomal dominant inheritance OMIM:176807 BRCA2 675 HP:0012125 Prostate cancer OMIM:176807 BRCA2 675 HP:0000006 Autosomal dominant inheritance OMIM:176807 KLF6 1316 HP:0012125 Prostate cancer OMIM:176807 KLF6 1316 HP:0000006 Autosomal dominant inheritance OMIM:615048 CHCHD10 400916 HP:0001337 Tremor OMIM:615048 CHCHD10 400916 HP:0002355 Difficulty walking OMIM:615048 CHCHD10 400916 HP:0001763 Pes planus OMIM:615048 CHCHD10 400916 HP:0000006 Autosomal dominant inheritance OMIM:615048 CHCHD10 400916 HP:0001265 Hyporeflexia OMIM:615048 CHCHD10 400916 HP:0008981 Calf muscle hypertrophy OMIM:615048 CHCHD10 400916 HP:0001284 Areflexia OMIM:615048 CHCHD10 400916 HP:0002380 Fasciculations OMIM:615048 CHCHD10 400916 HP:0001765 Hammertoe OMIM:615048 CHCHD10 400916 HP:0003677 Slow progression OMIM:615048 CHCHD10 400916 HP:0003236 Elevated serum creatine phosphokinase OMIM:615048 CHCHD10 400916 HP:0001761 Pes cavus OMIM:615048 CHCHD10 400916 HP:0007269 Spinal muscular atrophy OMIM:183900 COL2A1 1280 HP:0000316 Hypertelorism OMIM:183900 COL2A1 1280 HP:0002515 Waddling gait OMIM:183900 COL2A1 1280 HP:0003071 Flattened epiphysis OMIM:183900 COL2A1 1280 HP:0000639 Nystagmus OMIM:183900 COL2A1 1280 HP:0008857 Neonatal short-trunk short stature OMIM:183900 COL2A1 1280 HP:0010306 Short thorax OMIM:183900 COL2A1 1280 HP:0000006 Autosomal dominant inheritance OMIM:183900 COL2A1 1280 HP:0000768 Pectus carinatum OMIM:183900 COL2A1 1280 HP:0000541 Retinal detachment OMIM:183900 COL2A1 1280 HP:0001883 Talipes OMIM:183900 COL2A1 1280 HP:0000272 Malar flattening OMIM:183900 COL2A1 1280 HP:0002098 Respiratory distress OMIM:183900 COL2A1 1280 HP:0008800 Limited hip movement OMIM:183900 COL2A1 1280 HP:0001552 Barrel-shaped chest OMIM:183900 COL2A1 1280 HP:0002938 Lumbar hyperlordosis OMIM:183900 COL2A1 1280 HP:0003312 Abnormal form of the vertebral bodies OMIM:183900 COL2A1 1280 HP:0008142 Delayed calcaneal ossification OMIM:183900 COL2A1 1280 HP:0000926 Platyspondyly OMIM:183900 COL2A1 1280 HP:0002996 Limited elbow movement OMIM:183900 COL2A1 1280 HP:0002318 Cervical myelopathy OMIM:183900 COL2A1 1280 HP:0000655 Vitreoretinal degeneration OMIM:183900 COL2A1 1280 HP:0002091 Restrictive lung disease OMIM:183900 COL2A1 1280 HP:0002655 Spondyloepiphyseal dysplasia OMIM:183900 COL2A1 1280 HP:0003300 Ovoid vertebral bodies OMIM:183900 COL2A1 1280 HP:0000545 Myopia OMIM:183900 COL2A1 1280 HP:0000501 Glaucoma OMIM:183900 COL2A1 1280 HP:0002808 Kyphosis OMIM:183900 COL2A1 1280 HP:0000470 Short neck OMIM:183900 COL2A1 1280 HP:0005930 Abnormality of epiphysis morphology OMIM:183900 COL2A1 1280 HP:0000337 Broad forehead OMIM:183900 COL2A1 1280 HP:0002650 Scoliosis OMIM:183900 COL2A1 1280 HP:0002758 Osteoarthritis OMIM:183900 COL2A1 1280 HP:0012368 Flat face OMIM:183900 COL2A1 1280 HP:0002983 Micromelia OMIM:183900 COL2A1 1280 HP:0001252 Muscular hypotonia OMIM:183900 COL2A1 1280 HP:0002812 Coxa vara OMIM:183900 COL2A1 1280 HP:0000175 Cleft palate OMIM:183900 COL2A1 1280 HP:0000518 Cataract OMIM:183900 COL2A1 1280 HP:0008788 Delayed pubic bone ossification OMIM:183900 COL2A1 1280 HP:0003311 Hypoplasia of the odontoid process OMIM:183900 COL2A1 1280 HP:0010501 Limitation of knee mobility OMIM:183900 COL2A1 1280 HP:0001762 Talipes equinovarus OMIM:183900 COL2A1 1280 HP:0000365 Hearing impairment OMIM:183900 COL2A1 1280 HP:0002827 Hip dislocation OMIM:183900 COL2A1 1280 HP:0004322 Short stature OMIM:183900 COL2A1 1280 HP:0002652 Skeletal dysplasia OMIM:183900 COL2A1 1280 HP:0003307 Hyperlordosis OMIM:183900 COL2A1 1280 HP:0000774 Narrow chest OMIM:614053 ATP5E 514 HP:0001249 Intellectual disability OMIM:614053 ATP5E 514 HP:0003535 3-Methylglutaconic aciduria OMIM:614053 ATP5E 514 HP:0009830 Peripheral neuropathy OMIM:614053 ATP5E 514 HP:0001639 Hypertrophic cardiomyopathy OMIM:614053 ATP5E 514 HP:0011925 Decreased activity of mitochondrial ATP synthase complex OMIM:614053 ATP5E 514 HP:0003128 Lactic acidosis OMIM:614053 ATP5E 514 HP:0000007 Autosomal recessive inheritance OMIM:607091 B4GALT1 2683 HP:0001263 Global developmental delay OMIM:607091 B4GALT1 2683 HP:0001305 Dandy-Walker malformation OMIM:607091 B4GALT1 2683 HP:0000256 Macrocephaly OMIM:607091 B4GALT1 2683 HP:0003198 Myopathy OMIM:607091 B4GALT1 2683 HP:0001928 Abnormality of coagulation OMIM:607091 B4GALT1 2683 HP:0000007 Autosomal recessive inheritance OMIM:607091 B4GALT1 2683 HP:0001252 Muscular hypotonia OMIM:607091 B4GALT1 2683 HP:0003236 Elevated serum creatine phosphokinase OMIM:607091 B4GALT1 2683 HP:0000238 Hydrocephalus OMIM:168000 SDHD 6392 HP:0001649 Tachycardia OMIM:168000 SDHD 6392 HP:0002377 Paraganglioma-related cranial nerve palsy OMIM:168000 SDHD 6392 HP:0003334 Elevated circulating catecholamine level OMIM:168000 SDHD 6392 HP:0002886 Vagal paraganglioma OMIM:168000 SDHD 6392 HP:0001673 Tachycardia (with pheochromocytoma) OMIM:168000 SDHD 6392 HP:0001676 Palpitations (with pheochromocytoma) OMIM:168000 SDHD 6392 HP:0000006 Autosomal dominant inheritance OMIM:168000 SDHD 6392 HP:0006737 Extraadrenal pheochromocytoma OMIM:168000 SDHD 6392 HP:0001962 Palpitations OMIM:168000 SDHD 6392 HP:0001686 Loss of voice OMIM:168000 SDHD 6392 HP:0002331 Headache (with pheochromocytoma) OMIM:168000 SDHD 6392 HP:0001613 Hoarse voice (caused by tumor impingement) OMIM:168000 SDHD 6392 HP:0000405 Conductive hearing impairment OMIM:168000 SDHD 6392 HP:0000361 Pulsatile tinnitus (tympanic paraganglioma) OMIM:168000 SDHD 6392 HP:0003001 Glomus jugular tumor OMIM:168000 SDHD 6392 HP:0001606 Vocal cord paralysis (caused by tumor impingement) OMIM:168000 SDHD 6392 HP:0000975 Hyperhidrosis OMIM:168000 SDHD 6392 HP:0003581 Adult onset OMIM:168000 SDHD 6392 HP:0006748 Adrenal pheochromocytoma OMIM:168000 SDHD 6392 HP:0006715 Glomus tympanicum paraganglioma OMIM:168000 SDHD 6392 HP:0001011 Diaphoresis (with pheochromocytoma) OMIM:168000 SDHD 6392 HP:0002640 Hypertension associated with pheochromocytoma OMIM:168000 SDHD 6392 HP:0000740 Anxiety (with pheochromocytoma) OMIM:168000 SDHD 6392 HP:0030074 Chemodectoma OMIM:168550 MSX2 4488 HP:0002695 Symmetrical, oval parietal bone defects OMIM:168550 MSX2 4488 HP:0000006 Autosomal dominant inheritance OMIM:168550 MSX2 4488 HP:0004492 Widely patent fontanelles and sutures OMIM:168550 MSX2 4488 HP:0002697 Parietal foramina OMIM:168550 MSX2 4488 HP:0000894 Short clavicles OMIM:604219 CRYAA 1409 HP:0000486 Strabismus OMIM:604219 CRYAA 1409 HP:0000518 Cataract OMIM:604219 CRYAA 1409 HP:0000639 Nystagmus OMIM:604219 CRYAA 1409 HP:0000612 Iris coloboma OMIM:604219 CRYAA 1409 HP:0000646 Amblyopia OMIM:604219 CRYAA 1409 HP:0000482 Microcornea OMIM:604219 CRYAA 1409 HP:0007834 Progressive cataract OMIM:604219 CRYAA 1409 HP:0000568 Microphthalmos OMIM:604219 CRYAA 1409 HP:0000006 Autosomal dominant inheritance OMIM:604219 CRYAA 1409 HP:0000501 Glaucoma OMIM:216340 FIG4 9896 HP:0001252 Muscular hypotonia OMIM:216340 FIG4 9896 HP:0009738 Abnormality of the antihelix OMIM:216340 FIG4 9896 HP:0001525 Severe failure to thrive OMIM:216340 FIG4 9896 HP:0011309 Tapered toe OMIM:216340 FIG4 9896 HP:0002561 Absent nipple OMIM:216340 FIG4 9896 HP:0002757 Recurrent fractures OMIM:216340 FIG4 9896 HP:0000653 Sparse eyelashes OMIM:216340 FIG4 9896 HP:0001638 Cardiomyopathy OMIM:216340 FIG4 9896 HP:0001798 Anonychia OMIM:216340 FIG4 9896 HP:0002692 Hypoplastic facial bones OMIM:216340 FIG4 9896 HP:0001639 Hypertrophic cardiomyopathy OMIM:216340 FIG4 9896 HP:0002269 Abnormality of neuronal migration OMIM:216340 FIG4 9896 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:216340 FIG4 9896 HP:0001321 Cerebellar hypoplasia OMIM:216340 FIG4 9896 HP:0000954 Single transverse palmar crease OMIM:216340 FIG4 9896 HP:0001511 Intrauterine growth retardation OMIM:216340 FIG4 9896 HP:0000889 Abnormality of the clavicle OMIM:216340 FIG4 9896 HP:0009776 Adactyly OMIM:216340 FIG4 9896 HP:0008053 Aplasia/Hypoplasia of the iris OMIM:216340 FIG4 9896 HP:0000488 Retinopathy OMIM:216340 FIG4 9896 HP:0002209 Sparse scalp hair OMIM:216340 FIG4 9896 HP:0004322 Short stature OMIM:216340 FIG4 9896 HP:0000162 Glossoptosis OMIM:216340 FIG4 9896 HP:0002119 Ventriculomegaly OMIM:216340 FIG4 9896 HP:0011362 Abnormal hair quantity OMIM:216340 FIG4 9896 HP:0000188 Short upper lip OMIM:216340 FIG4 9896 HP:0006660 Aplastic clavicles OMIM:216340 FIG4 9896 HP:0000216 Broad secondary alveolar ridge OMIM:216340 FIG4 9896 HP:0007759 Opacification of the corneal stroma OMIM:216340 FIG4 9896 HP:0000518 Cataract OMIM:216340 FIG4 9896 HP:0000047 Hypospadias OMIM:216340 FIG4 9896 HP:0000535 Sparse eyebrow OMIM:216340 FIG4 9896 HP:0000520 Proptosis OMIM:216340 FIG4 9896 HP:0000647 Sclerocornea OMIM:216340 FIG4 9896 HP:0002827 Hip dislocation OMIM:216340 FIG4 9896 HP:0001182 Tapered finger OMIM:216340 FIG4 9896 HP:0000174 Abnormality of the palate OMIM:216340 FIG4 9896 HP:0006628 Absent sternal ossification OMIM:216340 FIG4 9896 HP:0001831 Short toe OMIM:216340 FIG4 9896 HP:0001629 Ventricular septal defect OMIM:216340 FIG4 9896 HP:0009882 Short distal phalanx of finger OMIM:216340 FIG4 9896 HP:0002652 Skeletal dysplasia OMIM:216340 FIG4 9896 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:216340 FIG4 9896 HP:0000007 Autosomal recessive inheritance OMIM:216340 FIG4 9896 HP:0001561 Polyhydramnios OMIM:216340 FIG4 9896 HP:0000369 Low-set ears OMIM:216340 FIG4 9896 HP:0008736 Hypoplasia of penis OMIM:216340 FIG4 9896 HP:0000233 Thin vermilion border OMIM:216340 FIG4 9896 HP:0000894 Short clavicles OMIM:216340 FIG4 9896 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:216340 FIG4 9896 HP:0003043 Abnormality of the shoulder OMIM:216340 FIG4 9896 HP:0001276 Hypertonia OMIM:216340 FIG4 9896 HP:0000347 Micrognathia OMIM:216340 FIG4 9896 HP:0000316 Hypertelorism OMIM:216340 FIG4 9896 HP:0001636 Tetralogy of Fallot OMIM:216340 FIG4 9896 HP:0009835 Aplasia/Hypoplasia of the distal phalanges of the hand OMIM:216340 FIG4 9896 HP:0003272 Abnormality of the hip bone OMIM:216340 FIG4 9896 HP:0000252 Microcephaly OMIM:216340 FIG4 9896 HP:0001360 Holoprosencephaly OMIM:216340 FIG4 9896 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:216340 FIG4 9896 HP:0000499 Abnormality of the eyelashes OMIM:216340 FIG4 9896 HP:0002092 Pulmonary hypertension OMIM:216340 FIG4 9896 HP:0009843 Aplasia/Hypoplasia of the middle phalanges of the hand OMIM:216340 FIG4 9896 HP:0010185 Aplasia/Hypoplasia of the distal phalanges of the toes OMIM:216340 FIG4 9896 HP:0000054 Micropenis OMIM:216340 FIG4 9896 HP:0006709 Aplasia/Hypoplasia of the nipples OMIM:216340 FIG4 9896 HP:0000322 Short philtrum OMIM:216340 FIG4 9896 HP:0000639 Nystagmus OMIM:216340 FIG4 9896 HP:0100543 Cognitive impairment OMIM:216340 FIG4 9896 HP:0008362 Aplasia/Hypoplasia of the hallux OMIM:216340 FIG4 9896 HP:0000958 Dry skin OMIM:216340 FIG4 9896 HP:0000286 Epicanthus OMIM:216340 FIG4 9896 HP:0001871 Abnormality of blood and blood-forming tissues OMIM:216340 FIG4 9896 HP:0000268 Dolichocephaly OMIM:216340 FIG4 9896 HP:0000463 Anteverted nares OMIM:216340 FIG4 9896 HP:0011344 Severe global developmental delay OMIM:216340 FIG4 9896 HP:0000464 Abnormality of the neck OMIM:216340 FIG4 9896 HP:0000239 Large fontanelles OMIM:216340 FIG4 9896 HP:0000385 Small earlobe OMIM:216340 FIG4 9896 HP:0000582 Upslanted palpebral fissure OMIM:216340 FIG4 9896 HP:0002120 Cerebral cortical atrophy OMIM:216340 FIG4 9896 HP:0000766 Abnormality of the sternum OMIM:216340 FIG4 9896 HP:0000272 Malar flattening OMIM:216340 FIG4 9896 HP:0008386 Aplasia/Hypoplasia of the nails OMIM:216340 FIG4 9896 HP:0000368 Low-set, posteriorly rotated ears OMIM:216340 FIG4 9896 HP:0001622 Premature birth OMIM:216340 FIG4 9896 HP:0009906 Aplasia/Hypoplasia of the earlobes OMIM:216340 FIG4 9896 HP:0000365 Hearing impairment OMIM:216340 FIG4 9896 HP:0000973 Cutis laxa OMIM:216340 FIG4 9896 HP:0006323 Premature loss of primary teeth OMIM:216340 FIG4 9896 HP:0002021 Pyloric stenosis OMIM:216340 FIG4 9896 HP:0000028 Cryptorchidism OMIM:216340 FIG4 9896 HP:0002139 Arrhinencephaly OMIM:216340 FIG4 9896 HP:0000782 Abnormality of the scapula OMIM:216340 FIG4 9896 HP:0001274 Agenesis of corpus callosum OMIM:216340 FIG4 9896 HP:0000581 Blepharophimosis OMIM:216340 FIG4 9896 HP:0001789 Hydrops fetalis OMIM:216340 FIG4 9896 HP:0004331 Decreased skull ossification OMIM:216340 FIG4 9896 HP:0009777 Absent thumb OMIM:216340 FIG4 9896 HP:0010624 Aplastic/hypoplastic toenail OMIM:216340 FIG4 9896 HP:0001156 Brachydactyly syndrome OMIM:216340 FIG4 9896 HP:0001302 Pachygyria OMIM:216340 FIG4 9896 HP:0001770 Toe syndactyly OMIM:615938 CCND2 894 HP:0011220 Prominent forehead OMIM:615938 CCND2 894 HP:0001355 Megalencephaly OMIM:615938 CCND2 894 HP:0001162 Postaxial hand polydactyly OMIM:615938 CCND2 894 HP:0000238 Hydrocephalus OMIM:615938 CCND2 894 HP:0002119 Ventriculomegaly OMIM:615938 CCND2 894 HP:0002126 Polymicrogyria OMIM:615938 CCND2 894 HP:0000256 Macrocephaly OMIM:615938 CCND2 894 HP:0001263 Global developmental delay OMIM:601777 GUCY2D 3000 HP:0000548 Cone-rod dystrophy OMIM:601777 GUCY2D 3000 HP:0007994 Peripheral visual field loss OMIM:601777 GUCY2D 3000 HP:0007663 Decreased central vision OMIM:601777 GUCY2D 3000 HP:0011463 Childhood onset OMIM:601777 GUCY2D 3000 HP:0000006 Autosomal dominant inheritance OMIM:156250 PTPN11 5781 HP:0006487 Bowing of the long bones OMIM:156250 PTPN11 5781 HP:0002653 Bone pain OMIM:156250 PTPN11 5781 HP:0000006 Autosomal dominant inheritance OMIM:156250 PTPN11 5781 HP:0010885 Aseptic necrosis OMIM:156250 PTPN11 5781 HP:0005701 Multiple enchondromatosis OMIM:156250 PTPN11 5781 HP:0006824 Cranial nerve paralysis OMIM:156250 PTPN11 5781 HP:0005655 Multiple digital exostoses OMIM:156250 PTPN11 5781 HP:0000944 Abnormality of the metaphyses OMIM:156250 PTPN11 5781 HP:0100777 Exostoses OMIM:156250 PTPN11 5781 HP:0000934 Chondrocalcinosis OMIM:156250 PTPN11 5781 HP:0005930 Abnormality of epiphysis morphology OMIM:156250 PTPN11 5781 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:156250 PTPN11 5781 HP:0001367 Abnormal joint morphology OMIM:254600 MPO 4353 HP:0000007 Autosomal recessive inheritance OMIM:254600 MPO 4353 HP:0001871 Abnormality of blood and blood-forming tissues OMIM:254600 MPO 4353 HP:0001939 Abnormality of metabolism/homeostasis OMIM:254600 MPO 4353 HP:0002715 Abnormality of the immune system OMIM:200950 ACP2 53 HP:0002013 Vomiting OMIM:200950 ACP2 53 HP:0001892 Abnormal bleeding OMIM:200950 ACP2 53 HP:0000007 Autosomal recessive inheritance OMIM:200950 ACP2 53 HP:0002179 Opisthotonus OMIM:200950 ACP2 53 HP:0001252 Muscular hypotonia OMIM:129400 TP63 8626 HP:0005280 Depressed nasal bridge OMIM:129400 TP63 8626 HP:0000508 Ptosis OMIM:129400 TP63 8626 HP:0000204 Cleft upper lip OMIM:129400 TP63 8626 HP:0008070 Sparse hair OMIM:129400 TP63 8626 HP:0002287 Progressive alopecia OMIM:129400 TP63 8626 HP:0000963 Thin skin OMIM:129400 TP63 8626 HP:0001092 Absent lacrimal punctum OMIM:129400 TP63 8626 HP:0000430 Underdeveloped nasal alae OMIM:129400 TP63 8626 HP:0004322 Short stature OMIM:129400 TP63 8626 HP:0200141 Small, conical teeth OMIM:129400 TP63 8626 HP:0000193 Bifid uvula OMIM:129400 TP63 8626 HP:0007476 Anhidrotic ectodermal dysplasia OMIM:129400 TP63 8626 HP:0000175 Cleft palate OMIM:129400 TP63 8626 HP:0002213 Fine hair OMIM:129400 TP63 8626 HP:0000698 Conical tooth OMIM:129400 TP63 8626 HP:0001159 Syndactyly OMIM:129400 TP63 8626 HP:0007500 Decreased number of sweat glands OMIM:129400 TP63 8626 HP:0000403 Recurrent otitis media OMIM:129400 TP63 8626 HP:0001792 Small nail OMIM:129400 TP63 8626 HP:0000006 Autosomal dominant inheritance OMIM:129400 TP63 8626 HP:0001805 Thick nail OMIM:129400 TP63 8626 HP:0000365 Hearing impairment OMIM:129400 TP63 8626 HP:0000460 Narrow nose OMIM:129400 TP63 8626 HP:0000160 Narrow mouth OMIM:129400 TP63 8626 HP:0000966 Hypohidrosis OMIM:129400 TP63 8626 HP:0000327 Hypoplasia of the maxilla OMIM:129400 TP63 8626 HP:0000059 Hypoplastic labia majora OMIM:129400 TP63 8626 HP:0000348 High forehead OMIM:129400 TP63 8626 HP:0000668 Hypodontia OMIM:129400 TP63 8626 HP:0000220 Velopharyngeal insufficiency OMIM:129400 TP63 8626 HP:0000691 Microdontia OMIM:129400 TP63 8626 HP:0002235 Pili canaliculi OMIM:129400 TP63 8626 HP:0000047 Hypospadias OMIM:616158 PURA 5813 HP:0011968 Feeding difficulties OMIM:616158 PURA 5813 HP:0000506 Telecanthus OMIM:616158 PURA 5813 HP:0003429 CNS hypomyelination OMIM:616158 PURA 5813 HP:0001344 Absent speech OMIM:616158 PURA 5813 HP:0002093 Respiratory insufficiency OMIM:616158 PURA 5813 HP:0002136 Broad-based gait OMIM:616158 PURA 5813 HP:0011220 Prominent forehead OMIM:616158 PURA 5813 HP:0012448 Delayed myelination OMIM:616158 PURA 5813 HP:0000218 High palate OMIM:616158 PURA 5813 HP:0000486 Strabismus OMIM:616158 PURA 5813 HP:0002058 Myopathic facies OMIM:616158 PURA 5813 HP:0001336 Myoclonus OMIM:616158 PURA 5813 HP:0000194 Open mouth OMIM:616158 PURA 5813 HP:0001263 Global developmental delay OMIM:616158 PURA 5813 HP:0000639 Nystagmus OMIM:616158 PURA 5813 HP:0001252 Muscular hypotonia OMIM:616158 PURA 5813 HP:0001250 Seizures OMIM:615112 LRIG2 9860 HP:0000083 Renal insufficiency OMIM:615112 LRIG2 9860 HP:0000076 Vesicoureteral reflux OMIM:615112 LRIG2 9860 HP:0002019 Constipation OMIM:615112 LRIG2 9860 HP:0000805 Enuresis OMIM:615112 LRIG2 9860 HP:0000126 Hydronephrosis OMIM:615112 LRIG2 9860 HP:0000010 Recurrent urinary tract infections OMIM:615112 LRIG2 9860 HP:0000007 Autosomal recessive inheritance OMIM:116100 CRYGS 1427 HP:0010922 Membranous cataract OMIM:116100 CRYGS 1427 HP:0000006 Autosomal dominant inheritance OMIM:157300 TNF 7124 HP:0000613 Photophobia OMIM:157300 TNF 7124 HP:0002183 Phonophobia OMIM:157300 TNF 7124 HP:0002013 Vomiting OMIM:157300 TNF 7124 HP:0000006 Autosomal dominant inheritance OMIM:157300 TNF 7124 HP:0002018 Nausea OMIM:157300 TNF 7124 HP:0002083 Migraine without aura OMIM:157300 TNF 7124 HP:0002077 Migraine with aura OMIM:302800 GJB1 2705 HP:0001265 Hyporeflexia OMIM:302800 GJB1 2705 HP:0002385 Paraparesis OMIM:302800 GJB1 2705 HP:0001419 X-linked recessive inheritance OMIM:302800 GJB1 2705 HP:0001270 Motor delay OMIM:302800 GJB1 2705 HP:0000763 Sensory neuropathy OMIM:302800 GJB1 2705 HP:0002311 Incoordination OMIM:302800 GJB1 2705 HP:0000407 Sensorineural hearing impairment OMIM:302800 GJB1 2705 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:302800 GJB1 2705 HP:0001288 Gait disturbance OMIM:302800 GJB1 2705 HP:0003677 Slow progression OMIM:302800 GJB1 2705 HP:0004372 Reduced consciousness/confusion OMIM:302800 GJB1 2705 HP:0003431 Decreased motor nerve conduction velocity OMIM:302800 GJB1 2705 HP:0001315 Reduced tendon reflexes OMIM:302800 GJB1 2705 HP:0002500 Abnormality of the cerebral white matter OMIM:302800 GJB1 2705 HP:0000762 Decreased nerve conduction velocity OMIM:302800 GJB1 2705 HP:0001337 Tremor OMIM:302800 GJB1 2705 HP:0001761 Pes cavus OMIM:302800 GJB1 2705 HP:0040083 Toe walking OMIM:302800 GJB1 2705 HP:0040078 Axonal degeneration OMIM:302800 GJB1 2705 HP:0000365 Hearing impairment OMIM:302800 GJB1 2705 HP:0002460 Distal muscle weakness OMIM:302800 GJB1 2705 HP:0003829 Incomplete penetrance OMIM:302800 GJB1 2705 HP:0003383 Onion bulb formation OMIM:302800 GJB1 2705 HP:0002015 Dysphagia OMIM:302800 GJB1 2705 HP:0003202 Skeletal muscle atrophy OMIM:302800 GJB1 2705 HP:0001324 Muscle weakness OMIM:302800 GJB1 2705 HP:0004374 Hemiplegia/hemiparesis OMIM:302800 GJB1 2705 HP:0001272 Cerebellar atrophy OMIM:302800 GJB1 2705 HP:0002808 Kyphosis OMIM:302800 GJB1 2705 HP:0001310 Dysmetria OMIM:302800 GJB1 2705 HP:0002427 Motor aphasia OMIM:302800 GJB1 2705 HP:0000639 Nystagmus OMIM:302800 GJB1 2705 HP:0002167 Neurological speech impairment OMIM:302800 GJB1 2705 HP:0002355 Difficulty walking OMIM:302800 GJB1 2705 HP:0001423 X-linked dominant inheritance OMIM:302800 GJB1 2705 HP:0003693 Distal amyotrophy OMIM:302800 GJB1 2705 HP:0003487 Babinski sign OMIM:302800 GJB1 2705 HP:0001771 Achilles tendon contracture OMIM:302800 GJB1 2705 HP:0001260 Dysarthria OMIM:302800 GJB1 2705 HP:0007328 Impaired pain sensation OMIM:302800 GJB1 2705 HP:0002650 Scoliosis OMIM:302800 GJB1 2705 HP:0002395 Lower limb hyperreflexia OMIM:302800 GJB1 2705 HP:0002936 Distal sensory impairment OMIM:151660 LMNA 4000 HP:0001012 Multiple lipomas OMIM:151660 LMNA 4000 HP:0001007 Hirsutism OMIM:151660 LMNA 4000 HP:0003233 Hypoalphalipoproteinemia OMIM:151660 LMNA 4000 HP:0000991 Xanthomatosis OMIM:151660 LMNA 4000 HP:0001677 Coronary artery disease OMIM:151660 LMNA 4000 HP:0003712 Skeletal muscle hypertrophy OMIM:151660 LMNA 4000 HP:0002240 Hepatomegaly OMIM:151660 LMNA 4000 HP:0000311 Round face OMIM:151660 LMNA 4000 HP:0000963 Thin skin OMIM:151660 LMNA 4000 HP:0001639 Hypertrophic cardiomyopathy OMIM:151660 LMNA 4000 HP:0005339 Abnormality of complement system OMIM:151660 LMNA 4000 HP:0006824 Cranial nerve paralysis OMIM:151660 LMNA 4000 HP:0000998 Hypertrichosis OMIM:151660 LMNA 4000 HP:0008739 Labial pseudohypertrophy OMIM:151660 LMNA 4000 HP:0100603 Toxemia of pregnancy OMIM:151660 LMNA 4000 HP:0000842 Hyperinsulinemia OMIM:151660 LMNA 4000 HP:0002621 Atherosclerosis OMIM:151660 LMNA 4000 HP:0000287 Increased facial adipose tissue OMIM:151660 LMNA 4000 HP:0001002 Decreased subcutaneous fat OMIM:151660 LMNA 4000 HP:0009002 Loss of truncal subcutaneous adipose tissue OMIM:151660 LMNA 4000 HP:0001015 Prominent superficial veins OMIM:151660 LMNA 4000 HP:0000147 Polycystic ovaries OMIM:151660 LMNA 4000 HP:0000006 Autosomal dominant inheritance OMIM:151660 LMNA 4000 HP:0008985 Increased intramuscular fat OMIM:151660 LMNA 4000 HP:0000831 Insulin-resistant diabetes mellitus OMIM:151660 LMNA 4000 HP:0100820 Glomerulopathy OMIM:151660 LMNA 4000 HP:0008887 Adipose tissue loss OMIM:151660 LMNA 4000 HP:0000855 Insulin resistance OMIM:151660 LMNA 4000 HP:0001744 Splenomegaly OMIM:151660 LMNA 4000 HP:0001597 Abnormality of the nail OMIM:151660 LMNA 4000 HP:0000956 Acanthosis nigricans OMIM:151660 LMNA 4000 HP:0003635 Loss of subcutaneous adipose tissue in limbs OMIM:151660 LMNA 4000 HP:0001397 Hepatic steatosis OMIM:151660 LMNA 4000 HP:0003119 Abnormality of lipid metabolism OMIM:151660 LMNA 4000 HP:0000468 Increased adipose tissue around the neck OMIM:151660 LMNA 4000 HP:0002155 Hypertriglyceridemia OMIM:151660 LMNA 4000 HP:0000819 Diabetes mellitus OMIM:151660 LMNA 4000 HP:0012645 Enlarged peripheral nerve OMIM:151660 LMNA 4000 HP:0003326 Myalgia OMIM:151660 LMNA 4000 HP:0008993 Increased intraabdominal fat OMIM:151660 LMNA 4000 HP:0000822 Hypertension OMIM:151660 LMNA 4000 HP:0003074 Hyperglycemia OMIM:151660 LMNA 4000 HP:0000869 Secondary amenorrhea OMIM:151660 LMNA 4000 HP:0001635 Congestive heart failure OMIM:151660 LMNA 4000 HP:0003198 Myopathy OMIM:151660 LMNA 4000 HP:0100578 Lipoatrophy OMIM:151660 LMNA 4000 HP:0001735 Acute pancreatitis OMIM:151660 LMNA 4000 HP:0006288 Advanced eruption of teeth OMIM:151660 LMNA 4000 HP:0100658 Cellulitis OMIM:241200 KCNJ1 3758 HP:0001281 Tetany OMIM:241200 KCNJ1 3758 HP:0003113 Hypochloremia OMIM:241200 KCNJ1 3758 HP:0001090 Large eyes OMIM:241200 KCNJ1 3758 HP:0003401 Paresthesia OMIM:241200 KCNJ1 3758 HP:0000111 Renal juxtaglomerular cell hypertrophy/hyperplasia OMIM:241200 KCNJ1 3758 HP:0000841 Hyperactive renin-angiotensin system OMIM:241200 KCNJ1 3758 HP:0001263 Global developmental delay OMIM:241200 KCNJ1 3758 HP:0000127 Renal salt wasting OMIM:241200 KCNJ1 3758 HP:0001561 Polyhydramnios OMIM:241200 KCNJ1 3758 HP:0000121 Nephrocalcinosis OMIM:241200 KCNJ1 3758 HP:0001508 Failure to thrive OMIM:241200 KCNJ1 3758 HP:0002900 Hypokalemia OMIM:241200 KCNJ1 3758 HP:0004322 Short stature OMIM:241200 KCNJ1 3758 HP:0003540 Impaired platelet aggregation OMIM:241200 KCNJ1 3758 HP:0001518 Small for gestational age OMIM:241200 KCNJ1 3758 HP:0002150 Hypercalciuria OMIM:241200 KCNJ1 3758 HP:0003527 Hyperprostaglandinuria OMIM:241200 KCNJ1 3758 HP:0002917 Hypomagnesemia OMIM:241200 KCNJ1 3758 HP:0000256 Macrocephaly OMIM:241200 KCNJ1 3758 HP:0001622 Premature birth OMIM:241200 KCNJ1 3758 HP:0001959 Polydipsia OMIM:241200 KCNJ1 3758 HP:0003158 Hyposthenuria OMIM:241200 KCNJ1 3758 HP:0000325 Triangular face OMIM:241200 KCNJ1 3758 HP:0003566 Increased serum prostaglandin E2 OMIM:241200 KCNJ1 3758 HP:0002013 Vomiting OMIM:241200 KCNJ1 3758 HP:0003081 Increased urinary potassium OMIM:241200 KCNJ1 3758 HP:0000848 Increased circulating renin level OMIM:241200 KCNJ1 3758 HP:0002632 Low-to-normal blood pressure OMIM:241200 KCNJ1 3758 HP:0002019 Constipation OMIM:241200 KCNJ1 3758 HP:0001945 Fever OMIM:241200 KCNJ1 3758 HP:0011220 Prominent forehead OMIM:241200 KCNJ1 3758 HP:0003324 Generalized muscle weakness OMIM:241200 KCNJ1 3758 HP:0000859 Hyperaldosteronism OMIM:241200 KCNJ1 3758 HP:0003394 Muscle cramps OMIM:241200 KCNJ1 3758 HP:0001960 Hypokalemic metabolic alkalosis OMIM:241200 KCNJ1 3758 HP:0000103 Polyuria OMIM:241200 KCNJ1 3758 HP:0001250 Seizures OMIM:241200 KCNJ1 3758 HP:0000128 Renal potassium wasting OMIM:241200 KCNJ1 3758 HP:0001249 Intellectual disability OMIM:241200 KCNJ1 3758 HP:0000938 Osteopenia OMIM:241200 KCNJ1 3758 HP:0000007 Autosomal recessive inheritance OMIM:241200 KCNJ1 3758 HP:0002914 Hyperchloridura OMIM:241200 KCNJ1 3758 HP:0001563 Fetal polyuria OMIM:241200 KCNJ1 3758 HP:0002014 Diarrhea OMIM:241200 KCNJ1 3758 HP:0000400 Macrotia OMIM:241200 KCNJ1 3758 HP:0001944 Dehydration OMIM:241200 KCNJ1 3758 HP:0000934 Chondrocalcinosis OMIM:241200 KCNJ1 3758 HP:0002007 Frontal bossing OMIM:613330 NKX3-2 579 HP:0009714 Abnormality of the epididymis OMIM:613330 NKX3-2 579 HP:0004288 Pseudoepiphyses of hand bones OMIM:613330 NKX3-2 579 HP:0000007 Autosomal recessive inheritance OMIM:613330 NKX3-2 579 HP:0002970 Genu varum OMIM:613330 NKX3-2 579 HP:0100255 Metaphyseal dysplasia OMIM:613330 NKX3-2 579 HP:0100569 Abnormal vertebral ossification OMIM:613330 NKX3-2 579 HP:0003521 Disproportionate short-trunk short stature OMIM:613330 NKX3-2 579 HP:0000773 Short ribs OMIM:236700 MKKS 8195 HP:0000007 Autosomal recessive inheritance OMIM:236700 MKKS 8195 HP:0000126 Hydronephrosis OMIM:236700 MKKS 8195 HP:0001830 Postaxial foot polydactyly OMIM:236700 MKKS 8195 HP:0000969 Edema OMIM:236700 MKKS 8195 HP:0010741 Edema of the lower limbs OMIM:236700 MKKS 8195 HP:0001636 Tetralogy of Fallot OMIM:236700 MKKS 8195 HP:0002251 Aganglionic megacolon OMIM:236700 MKKS 8195 HP:0030010 Hydrometrocolpos OMIM:236700 MKKS 8195 HP:0004322 Short stature OMIM:236700 MKKS 8195 HP:0000003 Multicystic kidney dysplasia OMIM:236700 MKKS 8195 HP:0001629 Ventricular septal defect OMIM:236700 MKKS 8195 HP:0100779 Urogenital sinus anomaly OMIM:236700 MKKS 8195 HP:0001631 Defect in the atrial septum OMIM:236700 MKKS 8195 HP:0000148 Vaginal atresia OMIM:236700 MKKS 8195 HP:0008678 Renal hypoplasia/aplasia OMIM:236700 MKKS 8195 HP:0008368 Tarsal synostosis OMIM:236700 MKKS 8195 HP:0002564 Malformation of the heart and great vessels OMIM:236700 MKKS 8195 HP:0004383 Hypoplastic left heart OMIM:236700 MKKS 8195 HP:0001643 Patent ductus arteriosus OMIM:236700 MKKS 8195 HP:0006159 Mesoaxial hand polydactyly OMIM:236700 MKKS 8195 HP:0001374 Congenital hip dislocation OMIM:236700 MKKS 8195 HP:0000143 Rectovaginal fistula OMIM:236700 MKKS 8195 HP:0001159 Syndactyly OMIM:236700 MKKS 8195 HP:0000072 Hydroureter OMIM:236700 MKKS 8195 HP:0000175 Cleft palate OMIM:236700 MKKS 8195 HP:0001162 Postaxial hand polydactyly OMIM:236700 MKKS 8195 HP:0000113 Polycystic kidney dysplasia OMIM:236700 MKKS 8195 HP:0002089 Pulmonary hypoplasia OMIM:236700 MKKS 8195 HP:0001156 Brachydactyly syndrome OMIM:236700 MKKS 8195 HP:0100543 Cognitive impairment OMIM:236700 MKKS 8195 HP:0004397 Ectopic anus OMIM:236700 MKKS 8195 HP:0001586 Vesicovaginal fistula OMIM:236700 MKKS 8195 HP:0000145 Transverse vaginal septum OMIM:236700 MKKS 8195 HP:0100627 Displacement of the external urethral meatus OMIM:236700 MKKS 8195 HP:0000028 Cryptorchidism OMIM:236700 MKKS 8195 HP:0002023 Anal atresia OMIM:236700 MKKS 8195 HP:0001163 Abnormality of the metacarpal bones OMIM:236700 MKKS 8195 HP:0006101 Finger syndactyly OMIM:236700 MKKS 8195 HP:0100589 Urogenital fistula OMIM:611091 NSUN2 54888 HP:0001249 Intellectual disability OMIM:611091 NSUN2 54888 HP:0001250 Seizures OMIM:611091 NSUN2 54888 HP:0003236 Elevated serum creatine phosphokinase OMIM:611091 NSUN2 54888 HP:0001260 Dysarthria OMIM:611091 NSUN2 54888 HP:0000276 Long face OMIM:611091 NSUN2 54888 HP:0008936 Muscular hypotonia of the trunk OMIM:611091 NSUN2 54888 HP:0000316 Hypertelorism OMIM:611091 NSUN2 54888 HP:0000486 Strabismus OMIM:611091 NSUN2 54888 HP:0001347 Hyperreflexia OMIM:611091 NSUN2 54888 HP:0001257 Spasticity OMIM:611091 NSUN2 54888 HP:0000964 Eczema OMIM:611091 NSUN2 54888 HP:0000601 Hypotelorism OMIM:611091 NSUN2 54888 HP:0001263 Global developmental delay OMIM:611091 NSUN2 54888 HP:0000319 Smooth philtrum OMIM:611091 NSUN2 54888 HP:0001771 Achilles tendon contracture OMIM:611091 NSUN2 54888 HP:0000574 Thick eyebrow OMIM:611091 NSUN2 54888 HP:0008070 Sparse hair OMIM:611091 NSUN2 54888 HP:0000664 Synophrys OMIM:611091 NSUN2 54888 HP:0008897 Postnatal growth retardation OMIM:611091 NSUN2 54888 HP:0000007 Autosomal recessive inheritance OMIM:611091 NSUN2 54888 HP:0000275 Narrow face OMIM:611091 NSUN2 54888 HP:0000322 Short philtrum OMIM:611091 NSUN2 54888 HP:0000506 Telecanthus OMIM:611091 NSUN2 54888 HP:0000750 Delayed speech and language development OMIM:611091 NSUN2 54888 HP:0001761 Pes cavus OMIM:611091 NSUN2 54888 HP:0000252 Microcephaly OMIM:611091 NSUN2 54888 HP:0000426 Prominent nasal bridge OMIM:611091 NSUN2 54888 HP:0000430 Underdeveloped nasal alae OMIM:611091 NSUN2 54888 HP:0000431 Wide nasal bridge OMIM:611091 NSUN2 54888 HP:0000331 Short chin OMIM:611091 NSUN2 54888 HP:0004322 Short stature OMIM:611091 NSUN2 54888 HP:0000581 Blepharophimosis OMIM:611091 NSUN2 54888 HP:0000448 Prominent nose OMIM:611091 NSUN2 54888 HP:0001518 Small for gestational age ORPHANET:157794 GREM1 26585 HP:0200008 Intestinal polyposis ORPHANET:157794 GREM1 26585 HP:0100743 Neoplasm of the rectum ORPHANET:157794 GREM1 26585 HP:0100273 Neoplasm of the colon ORPHANET:157794 GREM1 26585 HP:0002239 Gastrointestinal hemorrhage ORPHANET:157794 BMPR1A 657 HP:0200008 Intestinal polyposis ORPHANET:157794 BMPR1A 657 HP:0100743 Neoplasm of the rectum ORPHANET:157794 BMPR1A 657 HP:0100273 Neoplasm of the colon ORPHANET:157794 BMPR1A 657 HP:0002239 Gastrointestinal hemorrhage OMIM:232200 G6PC 2538 HP:0000660 Lipemia retinalis OMIM:232200 G6PC 2538 HP:0000823 Delayed puberty OMIM:232200 G6PC 2538 HP:0000007 Autosomal recessive inheritance OMIM:232200 G6PC 2538 HP:0001538 Protuberant abdomen OMIM:232200 G6PC 2538 HP:0003077 Hyperlipidemia OMIM:232200 G6PC 2538 HP:0002240 Hepatomegaly OMIM:232200 G6PC 2538 HP:0000295 Doll-like facies OMIM:232200 G6PC 2538 HP:0012213 Decreased glomerular filtration rate OMIM:232200 G6PC 2538 HP:0000991 Xanthomatosis OMIM:232200 G6PC 2538 HP:0000105 Enlarged kidneys OMIM:232200 G6PC 2538 HP:0001733 Pancreatitis OMIM:232200 G6PC 2538 HP:0001402 Hepatocellular carcinoma OMIM:232200 G6PC 2538 HP:0000097 Focal segmental glomerulosclerosis OMIM:232200 G6PC 2538 HP:0001997 Gout OMIM:232200 G6PC 2538 HP:0002254 Intermittent diarrhea OMIM:232200 G6PC 2538 HP:0000787 Nephrolithiasis OMIM:232200 G6PC 2538 HP:0003128 Lactic acidosis OMIM:232200 G6PC 2538 HP:0004322 Short stature OMIM:232200 G6PC 2538 HP:0000093 Proteinuria OMIM:232200 G6PC 2538 HP:0001892 Abnormal bleeding OMIM:232200 G6PC 2538 HP:0003199 Decreased muscle mass OMIM:232200 G6PC 2538 HP:0002910 Elevated hepatic transaminases OMIM:232200 G6PC 2538 HP:0000822 Hypertension OMIM:232200 G6PC 2538 HP:0001943 Hypoglycemia OMIM:232200 G6PC 2538 HP:0000939 Osteoporosis OMIM:146200 GCM2 9247 HP:0001281 Tetany OMIM:146200 GCM2 9247 HP:0002901 Hypocalcemia OMIM:146200 GCM2 9247 HP:0001250 Seizures OMIM:146200 GCM2 9247 HP:0002905 Hyperphosphatemia OMIM:146200 GCM2 9247 HP:0000829 Hypoparathyroidism OMIM:146200 GCM2 9247 HP:0002514 Cerebral calcification OMIM:146200 GCM2 9247 HP:0000518 Cataract OMIM:146200 GCM2 9247 HP:0000006 Autosomal dominant inheritance OMIM:146200 PTH 5741 HP:0001281 Tetany OMIM:146200 PTH 5741 HP:0002901 Hypocalcemia OMIM:146200 PTH 5741 HP:0001250 Seizures OMIM:146200 PTH 5741 HP:0002905 Hyperphosphatemia OMIM:146200 PTH 5741 HP:0000829 Hypoparathyroidism OMIM:146200 PTH 5741 HP:0002514 Cerebral calcification OMIM:146200 PTH 5741 HP:0000518 Cataract OMIM:146200 PTH 5741 HP:0000006 Autosomal dominant inheritance ORPHANET:242 MAP3K1 4214 HP:0000037 Male pseudohermaphroditism ORPHANET:242 MAP3K1 4214 HP:0000147 Polycystic ovaries ORPHANET:242 MAP3K1 4214 HP:0000035 Abnormality of the testis ORPHANET:242 SRY 6736 HP:0000037 Male pseudohermaphroditism ORPHANET:242 SRY 6736 HP:0000147 Polycystic ovaries ORPHANET:242 SRY 6736 HP:0000035 Abnormality of the testis ORPHANET:242 CBX2 84733 HP:0000037 Male pseudohermaphroditism ORPHANET:242 CBX2 84733 HP:0000147 Polycystic ovaries ORPHANET:242 CBX2 84733 HP:0000035 Abnormality of the testis ORPHANET:242 DMRT1 1761 HP:0000037 Male pseudohermaphroditism ORPHANET:242 DMRT1 1761 HP:0000147 Polycystic ovaries ORPHANET:242 DMRT1 1761 HP:0000035 Abnormality of the testis ORPHANET:242 NR0B1 190 HP:0000037 Male pseudohermaphroditism ORPHANET:242 NR0B1 190 HP:0000147 Polycystic ovaries ORPHANET:242 NR0B1 190 HP:0000035 Abnormality of the testis ORPHANET:242 DHH 50846 HP:0000037 Male pseudohermaphroditism ORPHANET:242 DHH 50846 HP:0000147 Polycystic ovaries ORPHANET:242 DHH 50846 HP:0000035 Abnormality of the testis ORPHANET:242 NR5A1 2516 HP:0000037 Male pseudohermaphroditism ORPHANET:242 NR5A1 2516 HP:0000147 Polycystic ovaries ORPHANET:242 NR5A1 2516 HP:0000035 Abnormality of the testis ORPHANET:776 MED12 9968 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:776 MED12 9968 HP:0002650 Scoliosis ORPHANET:776 MED12 9968 HP:0000426 Prominent nasal bridge ORPHANET:776 MED12 9968 HP:0001250 Seizures ORPHANET:776 MED12 9968 HP:0001519 Disproportionate tall stature ORPHANET:776 MED12 9968 HP:0001631 Defect in the atrial septum ORPHANET:776 MED12 9968 HP:0000322 Short philtrum ORPHANET:776 MED12 9968 HP:0000348 High forehead ORPHANET:776 MED12 9968 HP:0002167 Neurological speech impairment ORPHANET:776 MED12 9968 HP:0000275 Narrow face ORPHANET:776 MED12 9968 HP:0000256 Macrocephaly ORPHANET:776 MED12 9968 HP:0000377 Abnormality of the pinna ORPHANET:776 MED12 9968 HP:0001252 Muscular hypotonia ORPHANET:776 MED12 9968 HP:0100490 Camptodactyly of finger ORPHANET:776 MED12 9968 HP:0000164 Abnormality of the teeth ORPHANET:776 MED12 9968 HP:0007018 Attention deficit hyperactivity disorder ORPHANET:776 MED12 9968 HP:0001608 Abnormality of the voice ORPHANET:776 MED12 9968 HP:0100543 Cognitive impairment ORPHANET:776 MED12 9968 HP:0000053 Macroorchidism ORPHANET:776 MED12 9968 HP:0001166 Arachnodactyly ORPHANET:776 MED12 9968 HP:0002648 Abnormality of calvarial morphology ORPHANET:776 MED12 9968 HP:0000738 Hallucinations ORPHANET:776 MED12 9968 HP:0000174 Abnormality of the palate ORPHANET:776 MED12 9968 HP:0000347 Micrognathia ORPHANET:776 MED12 9968 HP:0001382 Joint hypermobility ORPHANET:776 MED12 9968 HP:0010669 Cheekbone underdevelopment ORPHANET:776 MED12 9968 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:776 MED12 9968 HP:0000767 Pectus excavatum ORPHANET:776 MED12 9968 HP:0001156 Brachydactyly syndrome ORPHANET:776 UPF3B 65109 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:776 UPF3B 65109 HP:0002650 Scoliosis ORPHANET:776 UPF3B 65109 HP:0000426 Prominent nasal bridge ORPHANET:776 UPF3B 65109 HP:0001250 Seizures ORPHANET:776 UPF3B 65109 HP:0001519 Disproportionate tall stature ORPHANET:776 UPF3B 65109 HP:0001631 Defect in the atrial septum ORPHANET:776 UPF3B 65109 HP:0000322 Short philtrum ORPHANET:776 UPF3B 65109 HP:0000348 High forehead ORPHANET:776 UPF3B 65109 HP:0002167 Neurological speech impairment ORPHANET:776 UPF3B 65109 HP:0000275 Narrow face ORPHANET:776 UPF3B 65109 HP:0000256 Macrocephaly ORPHANET:776 UPF3B 65109 HP:0000377 Abnormality of the pinna ORPHANET:776 UPF3B 65109 HP:0001252 Muscular hypotonia ORPHANET:776 UPF3B 65109 HP:0100490 Camptodactyly of finger ORPHANET:776 UPF3B 65109 HP:0000164 Abnormality of the teeth ORPHANET:776 UPF3B 65109 HP:0007018 Attention deficit hyperactivity disorder ORPHANET:776 UPF3B 65109 HP:0001608 Abnormality of the voice ORPHANET:776 UPF3B 65109 HP:0100543 Cognitive impairment ORPHANET:776 UPF3B 65109 HP:0000053 Macroorchidism ORPHANET:776 UPF3B 65109 HP:0001166 Arachnodactyly ORPHANET:776 UPF3B 65109 HP:0002648 Abnormality of calvarial morphology ORPHANET:776 UPF3B 65109 HP:0000738 Hallucinations ORPHANET:776 UPF3B 65109 HP:0000174 Abnormality of the palate ORPHANET:776 UPF3B 65109 HP:0000347 Micrognathia ORPHANET:776 UPF3B 65109 HP:0001382 Joint hypermobility ORPHANET:776 UPF3B 65109 HP:0010669 Cheekbone underdevelopment ORPHANET:776 UPF3B 65109 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:776 UPF3B 65109 HP:0000767 Pectus excavatum ORPHANET:776 UPF3B 65109 HP:0001156 Brachydactyly syndrome ORPHANET:776 ZDHHC9 51114 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:776 ZDHHC9 51114 HP:0002650 Scoliosis ORPHANET:776 ZDHHC9 51114 HP:0000426 Prominent nasal bridge ORPHANET:776 ZDHHC9 51114 HP:0001250 Seizures ORPHANET:776 ZDHHC9 51114 HP:0001519 Disproportionate tall stature ORPHANET:776 ZDHHC9 51114 HP:0001631 Defect in the atrial septum ORPHANET:776 ZDHHC9 51114 HP:0000322 Short philtrum ORPHANET:776 ZDHHC9 51114 HP:0000348 High forehead ORPHANET:776 ZDHHC9 51114 HP:0002167 Neurological speech impairment ORPHANET:776 ZDHHC9 51114 HP:0000275 Narrow face ORPHANET:776 ZDHHC9 51114 HP:0000256 Macrocephaly ORPHANET:776 ZDHHC9 51114 HP:0000377 Abnormality of the pinna ORPHANET:776 ZDHHC9 51114 HP:0001252 Muscular hypotonia ORPHANET:776 ZDHHC9 51114 HP:0100490 Camptodactyly of finger ORPHANET:776 ZDHHC9 51114 HP:0000164 Abnormality of the teeth ORPHANET:776 ZDHHC9 51114 HP:0007018 Attention deficit hyperactivity disorder ORPHANET:776 ZDHHC9 51114 HP:0001608 Abnormality of the voice ORPHANET:776 ZDHHC9 51114 HP:0100543 Cognitive impairment ORPHANET:776 ZDHHC9 51114 HP:0000053 Macroorchidism ORPHANET:776 ZDHHC9 51114 HP:0001166 Arachnodactyly ORPHANET:776 ZDHHC9 51114 HP:0002648 Abnormality of calvarial morphology ORPHANET:776 ZDHHC9 51114 HP:0000738 Hallucinations ORPHANET:776 ZDHHC9 51114 HP:0000174 Abnormality of the palate ORPHANET:776 ZDHHC9 51114 HP:0000347 Micrognathia ORPHANET:776 ZDHHC9 51114 HP:0001382 Joint hypermobility ORPHANET:776 ZDHHC9 51114 HP:0010669 Cheekbone underdevelopment ORPHANET:776 ZDHHC9 51114 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:776 ZDHHC9 51114 HP:0000767 Pectus excavatum ORPHANET:776 ZDHHC9 51114 HP:0001156 Brachydactyly syndrome OMIM:616339 AARS 16 HP:0009830 Peripheral neuropathy OMIM:616339 AARS 16 HP:0004322 Short stature OMIM:616339 AARS 16 HP:0002827 Hip dislocation OMIM:616339 AARS 16 HP:0001511 Intrauterine growth retardation OMIM:616339 AARS 16 HP:0001252 Muscular hypotonia OMIM:616339 AARS 16 HP:0001508 Failure to thrive OMIM:616339 AARS 16 HP:0002059 Cerebral atrophy OMIM:616339 AARS 16 HP:0000639 Nystagmus OMIM:616339 AARS 16 HP:0001257 Spasticity OMIM:616339 AARS 16 HP:0000252 Microcephaly OMIM:616339 AARS 16 HP:0001284 Areflexia OMIM:616339 AARS 16 HP:0003429 CNS hypomyelination OMIM:616339 AARS 16 HP:0002072 Chorea OMIM:616339 AARS 16 HP:0001263 Global developmental delay OMIM:616339 AARS 16 HP:0000643 Blepharospasm OMIM:616339 AARS 16 HP:0001298 Encephalopathy OMIM:604169 DTNA 1837 HP:0004308 Ventricular arrhythmia OMIM:604169 DTNA 1837 HP:0001653 Mitral regurgitation OMIM:604169 DTNA 1837 HP:0001643 Patent ductus arteriosus OMIM:604169 DTNA 1837 HP:0000006 Autosomal dominant inheritance OMIM:604169 DTNA 1837 HP:0001712 Left ventricular hypertrophy OMIM:604169 DTNA 1837 HP:0001645 Sudden cardiac death OMIM:604169 DTNA 1837 HP:0001635 Congestive heart failure OMIM:604169 DTNA 1837 HP:0001629 Ventricular septal defect OMIM:604169 DTNA 1837 HP:0004383 Hypoplastic left heart OMIM:604169 DTNA 1837 HP:0005110 Atrial fibrillation OMIM:615871 HCN1 348980 HP:0002373 Febrile seizures OMIM:615871 HCN1 348980 HP:0001251 Ataxia OMIM:615871 HCN1 348980 HP:0000708 Behavioral abnormality OMIM:615871 HCN1 348980 HP:0200134 Epileptic encephalopathy OMIM:615871 HCN1 348980 HP:0001249 Intellectual disability OMIM:610017 GDF5 8200 HP:0000445 Wide nose OMIM:610017 GDF5 8200 HP:0009702 Carpal synostosis OMIM:610017 GDF5 8200 HP:0002948 Vertebral fusion OMIM:610017 GDF5 8200 HP:0008368 Tarsal synostosis OMIM:610017 GDF5 8200 HP:0003041 Humeroradial synostosis OMIM:610017 GDF5 8200 HP:0009700 Synostosis involving bones of the fingers OMIM:610017 GDF5 8200 HP:0000006 Autosomal dominant inheritance OMIM:117550 NSD1 64324 HP:0000708 Behavioral abnormality OMIM:117550 NSD1 64324 HP:0000256 Macrocephaly OMIM:117550 NSD1 64324 HP:0001176 Large hands OMIM:117550 NSD1 64324 HP:0001643 Patent ductus arteriosus OMIM:117550 NSD1 64324 HP:0001631 Defect in the atrial septum OMIM:117550 NSD1 64324 HP:0001250 Seizures OMIM:117550 NSD1 64324 HP:0001263 Global developmental delay OMIM:117550 NSD1 64324 HP:0002370 Poor coordination OMIM:117550 NSD1 64324 HP:0002667 Nephroblastoma (Wilms tumor) OMIM:117550 NSD1 64324 HP:0000218 High palate OMIM:117550 NSD1 64324 HP:0002474 Expressive language delay OMIM:117550 NSD1 64324 HP:0000098 Tall stature OMIM:117550 NSD1 64324 HP:0000540 Hypermetropia OMIM:117550 NSD1 64324 HP:0000316 Hypertelorism OMIM:117550 NSD1 64324 HP:0002650 Scoliosis OMIM:117550 NSD1 64324 HP:0000307 Pointed chin OMIM:117550 NSD1 64324 HP:0000405 Conductive hearing impairment OMIM:117550 NSD1 64324 HP:0001319 Neonatal hypotonia OMIM:117550 NSD1 64324 HP:0001249 Intellectual disability OMIM:117550 NSD1 64324 HP:0002280 Enlarged cisterna magna OMIM:117550 NSD1 64324 HP:0000268 Dolichocephaly OMIM:117550 NSD1 64324 HP:0000303 Mandibular prognathia OMIM:117550 NSD1 64324 HP:0001338 Partial agenesis of the corpus callosum OMIM:117550 NSD1 64324 HP:0000494 Downslanted palpebral fissures OMIM:117550 NSD1 64324 HP:0006288 Advanced eruption of teeth OMIM:117550 NSD1 64324 HP:0000388 Otitis media OMIM:117550 NSD1 64324 HP:0000006 Autosomal dominant inheritance OMIM:117550 NSD1 64324 HP:0000486 Strabismus OMIM:117550 NSD1 64324 HP:0003745 Sporadic OMIM:117550 NSD1 64324 HP:0009890 High anterior hairline OMIM:117550 NSD1 64324 HP:0001792 Small nail OMIM:117550 NSD1 64324 HP:0001833 Long foot OMIM:117550 NSD1 64324 HP:0001952 Abnormal glucose tolerance OMIM:117550 NSD1 64324 HP:0001629 Ventricular septal defect OMIM:117550 NSD1 64324 HP:0000639 Nystagmus OMIM:117550 NSD1 64324 HP:0002857 Genu valgum OMIM:117550 NSD1 64324 HP:0002389 Cavum septum pellucidum OMIM:117550 NSD1 64324 HP:0002007 Frontal bossing OMIM:117550 NSD1 64324 HP:0001763 Pes planus OMIM:117550 NSD1 64324 HP:0000189 Narrow palate OMIM:117550 NSD1 64324 HP:0001388 Joint laxity OMIM:117550 NSD1 64324 HP:0005616 Accelerated skeletal maturation OMIM:117550 NSD1 64324 HP:0001347 Hyperreflexia OMIM:615401 CORO1A 11151 HP:0001888 Lymphopenia OMIM:615401 CORO1A 11151 HP:0000752 Hyperactivity OMIM:615401 CORO1A 11151 HP:0003593 Infantile onset OMIM:615401 CORO1A 11151 HP:0000007 Autosomal recessive inheritance OMIM:615401 CORO1A 11151 HP:0001263 Global developmental delay OMIM:615401 CORO1A 11151 HP:0002721 Immunodeficiency OMIM:615401 CORO1A 11151 HP:0002205 Recurrent respiratory infections OMIM:313900 WAS 7454 HP:0004854 Intermittent thrombocytopenia OMIM:313900 WAS 7454 HP:0000421 Epistaxis OMIM:313900 WAS 7454 HP:0000964 Eczema OMIM:313900 WAS 7454 HP:0003212 Increased IgE level OMIM:313900 WAS 7454 HP:0000967 Petechiae OMIM:313900 WAS 7454 HP:0001905 Congenital thrombocytopenia OMIM:313900 WAS 7454 HP:0003011 Abnormality of the musculature OMIM:313900 WAS 7454 HP:0001419 X-linked recessive inheritance OMIM:313900 WAS 7454 HP:0000978 Bruising susceptibility OMIM:313900 WAS 7454 HP:0005537 Decreased mean platelet volume OMIM:313900 WAS 7454 HP:0003261 Increased IgA level OMIM:313900 WAS 7454 HP:0005261 Joint hemorrhage OMIM:615355 RIT1 6016 HP:0000006 Autosomal dominant inheritance OMIM:615355 RIT1 6016 HP:0000494 Downslanted palpebral fissures OMIM:615355 RIT1 6016 HP:0002212 Curly hair OMIM:615355 RIT1 6016 HP:0001642 Pulmonic stenosis OMIM:615355 RIT1 6016 HP:0000369 Low-set ears OMIM:615355 RIT1 6016 HP:0001561 Polyhydramnios OMIM:615355 RIT1 6016 HP:0001631 Defect in the atrial septum OMIM:615355 RIT1 6016 HP:0004322 Short stature OMIM:615355 RIT1 6016 HP:0000465 Webbed neck OMIM:615355 RIT1 6016 HP:0000286 Epicanthus OMIM:615355 RIT1 6016 HP:0000508 Ptosis OMIM:615355 RIT1 6016 HP:0004482 Relative macrocephaly OMIM:615355 RIT1 6016 HP:0001629 Ventricular septal defect OMIM:615355 RIT1 6016 HP:0000028 Cryptorchidism OMIM:615355 RIT1 6016 HP:0000974 Hyperextensible skin OMIM:615355 RIT1 6016 HP:0000316 Hypertelorism OMIM:615355 RIT1 6016 HP:0000470 Short neck OMIM:615355 RIT1 6016 HP:0001639 Hypertrophic cardiomyopathy OMIM:615355 RIT1 6016 HP:0001249 Intellectual disability OMIM:615355 RIT1 6016 HP:0001508 Failure to thrive OMIM:615355 RIT1 6016 HP:0000962 Hyperkeratosis OMIM:300799 ZDHHC9 51114 HP:0001166 Arachnodactyly OMIM:300799 ZDHHC9 51114 HP:0009183 Joint contracture of the 5th finger OMIM:300799 ZDHHC9 51114 HP:0001417 X-linked inheritance OMIM:300799 ZDHHC9 51114 HP:0000411 Protruding ear OMIM:300799 ZDHHC9 51114 HP:0001519 Disproportionate tall stature OMIM:300799 ZDHHC9 51114 HP:0000768 Pectus carinatum OMIM:300799 ZDHHC9 51114 HP:0001249 Intellectual disability OMIM:300799 ZDHHC9 51114 HP:0000486 Strabismus OMIM:300799 ZDHHC9 51114 HP:0001763 Pes planus OMIM:300799 ZDHHC9 51114 HP:0000708 Behavioral abnormality ORPHANET:95716 IYD 389434 HP:0001252 Muscular hypotonia ORPHANET:95716 IYD 389434 HP:0100543 Cognitive impairment ORPHANET:95716 IYD 389434 HP:0000157 Abnormality of the tongue ORPHANET:95716 IYD 389434 HP:0002019 Constipation ORPHANET:95716 IYD 389434 HP:0004322 Short stature ORPHANET:95716 IYD 389434 HP:0002360 Sleep disturbance ORPHANET:95716 IYD 389434 HP:0001537 Umbilical hernia ORPHANET:95716 IYD 389434 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:95716 IYD 389434 HP:0000853 Goiter ORPHANET:95716 IYD 389434 HP:0000280 Coarse facial features ORPHANET:95716 IYD 389434 HP:0000821 Hypothyroidism ORPHANET:95716 IYD 389434 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:95716 IYD 389434 HP:0001392 Abnormality of the liver ORPHANET:95716 DUOXA2 405753 HP:0001252 Muscular hypotonia ORPHANET:95716 DUOXA2 405753 HP:0100543 Cognitive impairment ORPHANET:95716 DUOXA2 405753 HP:0000157 Abnormality of the tongue ORPHANET:95716 DUOXA2 405753 HP:0002019 Constipation ORPHANET:95716 DUOXA2 405753 HP:0004322 Short stature ORPHANET:95716 DUOXA2 405753 HP:0002360 Sleep disturbance ORPHANET:95716 DUOXA2 405753 HP:0001537 Umbilical hernia ORPHANET:95716 DUOXA2 405753 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:95716 DUOXA2 405753 HP:0000853 Goiter ORPHANET:95716 DUOXA2 405753 HP:0000280 Coarse facial features ORPHANET:95716 DUOXA2 405753 HP:0000821 Hypothyroidism ORPHANET:95716 DUOXA2 405753 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:95716 DUOXA2 405753 HP:0001392 Abnormality of the liver ORPHANET:95716 DUOX2 50506 HP:0001252 Muscular hypotonia ORPHANET:95716 DUOX2 50506 HP:0100543 Cognitive impairment ORPHANET:95716 DUOX2 50506 HP:0000157 Abnormality of the tongue ORPHANET:95716 DUOX2 50506 HP:0002019 Constipation ORPHANET:95716 DUOX2 50506 HP:0004322 Short stature ORPHANET:95716 DUOX2 50506 HP:0002360 Sleep disturbance ORPHANET:95716 DUOX2 50506 HP:0001537 Umbilical hernia ORPHANET:95716 DUOX2 50506 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:95716 DUOX2 50506 HP:0000853 Goiter ORPHANET:95716 DUOX2 50506 HP:0000280 Coarse facial features ORPHANET:95716 DUOX2 50506 HP:0000821 Hypothyroidism ORPHANET:95716 DUOX2 50506 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:95716 DUOX2 50506 HP:0001392 Abnormality of the liver ORPHANET:95716 SLC5A5 6528 HP:0001252 Muscular hypotonia ORPHANET:95716 SLC5A5 6528 HP:0100543 Cognitive impairment ORPHANET:95716 SLC5A5 6528 HP:0000157 Abnormality of the tongue ORPHANET:95716 SLC5A5 6528 HP:0002019 Constipation ORPHANET:95716 SLC5A5 6528 HP:0004322 Short stature ORPHANET:95716 SLC5A5 6528 HP:0002360 Sleep disturbance ORPHANET:95716 SLC5A5 6528 HP:0001537 Umbilical hernia ORPHANET:95716 SLC5A5 6528 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:95716 SLC5A5 6528 HP:0000853 Goiter ORPHANET:95716 SLC5A5 6528 HP:0000280 Coarse facial features ORPHANET:95716 SLC5A5 6528 HP:0000821 Hypothyroidism ORPHANET:95716 SLC5A5 6528 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:95716 SLC5A5 6528 HP:0001392 Abnormality of the liver ORPHANET:95716 TPO 7173 HP:0001252 Muscular hypotonia ORPHANET:95716 TPO 7173 HP:0100543 Cognitive impairment ORPHANET:95716 TPO 7173 HP:0000157 Abnormality of the tongue ORPHANET:95716 TPO 7173 HP:0002019 Constipation ORPHANET:95716 TPO 7173 HP:0004322 Short stature ORPHANET:95716 TPO 7173 HP:0002360 Sleep disturbance ORPHANET:95716 TPO 7173 HP:0001537 Umbilical hernia ORPHANET:95716 TPO 7173 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:95716 TPO 7173 HP:0000853 Goiter ORPHANET:95716 TPO 7173 HP:0000280 Coarse facial features ORPHANET:95716 TPO 7173 HP:0000821 Hypothyroidism ORPHANET:95716 TPO 7173 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:95716 TPO 7173 HP:0001392 Abnormality of the liver ORPHANET:95716 TG 7038 HP:0001252 Muscular hypotonia ORPHANET:95716 TG 7038 HP:0100543 Cognitive impairment ORPHANET:95716 TG 7038 HP:0000157 Abnormality of the tongue ORPHANET:95716 TG 7038 HP:0002019 Constipation ORPHANET:95716 TG 7038 HP:0004322 Short stature ORPHANET:95716 TG 7038 HP:0002360 Sleep disturbance ORPHANET:95716 TG 7038 HP:0001537 Umbilical hernia ORPHANET:95716 TG 7038 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:95716 TG 7038 HP:0000853 Goiter ORPHANET:95716 TG 7038 HP:0000280 Coarse facial features ORPHANET:95716 TG 7038 HP:0000821 Hypothyroidism ORPHANET:95716 TG 7038 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:95716 TG 7038 HP:0001392 Abnormality of the liver OMIM:613319 ANO5 203859 HP:0003236 Elevated serum creatine phosphokinase OMIM:613319 ANO5 203859 HP:0009050 Quadriceps muscle atrophy OMIM:613319 ANO5 203859 HP:0003560 Muscular dystrophy OMIM:613319 ANO5 203859 HP:0000007 Autosomal recessive inheritance OMIM:613319 ANO5 203859 HP:0003581 Adult onset OMIM:613319 ANO5 203859 HP:0003551 Difficulty climbing stairs OMIM:613319 ANO5 203859 HP:0002460 Distal muscle weakness OMIM:613319 ANO5 203859 HP:0003828 Variable expressivity OMIM:613319 ANO5 203859 HP:0009046 Difficulty running OMIM:187500 ZFPM2 23414 HP:0001636 Tetralogy of Fallot OMIM:187500 ZFPM2 23414 HP:0000006 Autosomal dominant inheritance OMIM:187500 ZFPM2 23414 HP:0000383 Abnormality of periauricular region OMIM:187500 ZFPM2 23414 HP:0004209 Clinodactyly of the 5th finger OMIM:187500 ZFPM2 23414 HP:0000028 Cryptorchidism OMIM:187500 ZFPM2 23414 HP:0000337 Broad forehead OMIM:187500 ZFPM2 23414 HP:0001511 Intrauterine growth retardation OMIM:187500 ZFPM2 23414 HP:0001156 Brachydactyly syndrome OMIM:187500 ZFPM2 23414 HP:0005105 Abnormal nasal morphology OMIM:187500 ZFPM2 23414 HP:0004467 Preauricular pit OMIM:187500 ZFPM2 23414 HP:0000520 Proptosis OMIM:187500 ZFPM2 23414 HP:0009891 Underdeveloped supraorbital ridges OMIM:187500 ZFPM2 23414 HP:0000233 Thin vermilion border OMIM:187500 ZFPM2 23414 HP:0000268 Dolichocephaly OMIM:187500 GATA4 2626 HP:0001636 Tetralogy of Fallot OMIM:187500 GATA4 2626 HP:0000006 Autosomal dominant inheritance OMIM:187500 GATA4 2626 HP:0000383 Abnormality of periauricular region OMIM:187500 GATA4 2626 HP:0004209 Clinodactyly of the 5th finger OMIM:187500 GATA4 2626 HP:0000028 Cryptorchidism OMIM:187500 GATA4 2626 HP:0000337 Broad forehead OMIM:187500 GATA4 2626 HP:0001511 Intrauterine growth retardation OMIM:187500 GATA4 2626 HP:0001156 Brachydactyly syndrome OMIM:187500 GATA4 2626 HP:0005105 Abnormal nasal morphology OMIM:187500 GATA4 2626 HP:0004467 Preauricular pit OMIM:187500 GATA4 2626 HP:0000520 Proptosis OMIM:187500 GATA4 2626 HP:0009891 Underdeveloped supraorbital ridges OMIM:187500 GATA4 2626 HP:0000233 Thin vermilion border OMIM:187500 GATA4 2626 HP:0000268 Dolichocephaly OMIM:187500 GDF1 2657 HP:0001636 Tetralogy of Fallot OMIM:187500 GDF1 2657 HP:0000006 Autosomal dominant inheritance OMIM:187500 GDF1 2657 HP:0000383 Abnormality of periauricular region OMIM:187500 GDF1 2657 HP:0004209 Clinodactyly of the 5th finger OMIM:187500 GDF1 2657 HP:0000028 Cryptorchidism OMIM:187500 GDF1 2657 HP:0000337 Broad forehead OMIM:187500 GDF1 2657 HP:0001511 Intrauterine growth retardation OMIM:187500 GDF1 2657 HP:0001156 Brachydactyly syndrome OMIM:187500 GDF1 2657 HP:0005105 Abnormal nasal morphology OMIM:187500 GDF1 2657 HP:0004467 Preauricular pit OMIM:187500 GDF1 2657 HP:0000520 Proptosis OMIM:187500 GDF1 2657 HP:0009891 Underdeveloped supraorbital ridges OMIM:187500 GDF1 2657 HP:0000233 Thin vermilion border OMIM:187500 GDF1 2657 HP:0000268 Dolichocephaly OMIM:187500 GATA6 2627 HP:0001636 Tetralogy of Fallot OMIM:187500 GATA6 2627 HP:0000006 Autosomal dominant inheritance OMIM:187500 GATA6 2627 HP:0000383 Abnormality of periauricular region OMIM:187500 GATA6 2627 HP:0004209 Clinodactyly of the 5th finger OMIM:187500 GATA6 2627 HP:0000028 Cryptorchidism OMIM:187500 GATA6 2627 HP:0000337 Broad forehead OMIM:187500 GATA6 2627 HP:0001511 Intrauterine growth retardation OMIM:187500 GATA6 2627 HP:0001156 Brachydactyly syndrome OMIM:187500 GATA6 2627 HP:0005105 Abnormal nasal morphology OMIM:187500 GATA6 2627 HP:0004467 Preauricular pit OMIM:187500 GATA6 2627 HP:0000520 Proptosis OMIM:187500 GATA6 2627 HP:0009891 Underdeveloped supraorbital ridges OMIM:187500 GATA6 2627 HP:0000233 Thin vermilion border OMIM:187500 GATA6 2627 HP:0000268 Dolichocephaly OMIM:187500 TBX1 6899 HP:0001636 Tetralogy of Fallot OMIM:187500 TBX1 6899 HP:0000006 Autosomal dominant inheritance OMIM:187500 TBX1 6899 HP:0000383 Abnormality of periauricular region OMIM:187500 TBX1 6899 HP:0004209 Clinodactyly of the 5th finger OMIM:187500 TBX1 6899 HP:0000028 Cryptorchidism OMIM:187500 TBX1 6899 HP:0000337 Broad forehead OMIM:187500 TBX1 6899 HP:0001511 Intrauterine growth retardation OMIM:187500 TBX1 6899 HP:0001156 Brachydactyly syndrome OMIM:187500 TBX1 6899 HP:0005105 Abnormal nasal morphology OMIM:187500 TBX1 6899 HP:0004467 Preauricular pit OMIM:187500 TBX1 6899 HP:0000520 Proptosis OMIM:187500 TBX1 6899 HP:0009891 Underdeveloped supraorbital ridges OMIM:187500 TBX1 6899 HP:0000233 Thin vermilion border OMIM:187500 TBX1 6899 HP:0000268 Dolichocephaly OMIM:187500 JAG1 182 HP:0001636 Tetralogy of Fallot OMIM:187500 JAG1 182 HP:0000006 Autosomal dominant inheritance OMIM:187500 JAG1 182 HP:0000383 Abnormality of periauricular region OMIM:187500 JAG1 182 HP:0004209 Clinodactyly of the 5th finger OMIM:187500 JAG1 182 HP:0000028 Cryptorchidism OMIM:187500 JAG1 182 HP:0000337 Broad forehead OMIM:187500 JAG1 182 HP:0001511 Intrauterine growth retardation OMIM:187500 JAG1 182 HP:0001156 Brachydactyly syndrome OMIM:187500 JAG1 182 HP:0005105 Abnormal nasal morphology OMIM:187500 JAG1 182 HP:0004467 Preauricular pit OMIM:187500 JAG1 182 HP:0000520 Proptosis OMIM:187500 JAG1 182 HP:0009891 Underdeveloped supraorbital ridges OMIM:187500 JAG1 182 HP:0000233 Thin vermilion border OMIM:187500 JAG1 182 HP:0000268 Dolichocephaly OMIM:187500 NKX2-5 1482 HP:0001636 Tetralogy of Fallot OMIM:187500 NKX2-5 1482 HP:0000006 Autosomal dominant inheritance OMIM:187500 NKX2-5 1482 HP:0000383 Abnormality of periauricular region OMIM:187500 NKX2-5 1482 HP:0004209 Clinodactyly of the 5th finger OMIM:187500 NKX2-5 1482 HP:0000028 Cryptorchidism OMIM:187500 NKX2-5 1482 HP:0000337 Broad forehead OMIM:187500 NKX2-5 1482 HP:0001511 Intrauterine growth retardation OMIM:187500 NKX2-5 1482 HP:0001156 Brachydactyly syndrome OMIM:187500 NKX2-5 1482 HP:0005105 Abnormal nasal morphology OMIM:187500 NKX2-5 1482 HP:0004467 Preauricular pit OMIM:187500 NKX2-5 1482 HP:0000520 Proptosis OMIM:187500 NKX2-5 1482 HP:0009891 Underdeveloped supraorbital ridges OMIM:187500 NKX2-5 1482 HP:0000233 Thin vermilion border OMIM:187500 NKX2-5 1482 HP:0000268 Dolichocephaly OMIM:300814 GPR143 4935 HP:0000646 Amblyopia OMIM:300814 GPR143 4935 HP:0000484 Hyperopic astigmatism OMIM:300814 GPR143 4935 HP:0001417 X-linked inheritance OMIM:300814 GPR143 4935 HP:0000666 Horizontal nystagmus OMIM:614621 ERCC8 1161 HP:0001480 Freckling OMIM:614621 ERCC8 1161 HP:0000992 Cutaneous photosensitivity OMIM:614621 ERCC8 1161 HP:0003224 Increased cellular sensitivity to UV light OMIM:614621 ERCC8 1161 HP:0003593 Infantile onset OMIM:614621 ERCC8 1161 HP:0000007 Autosomal recessive inheritance OMIM:614859 PEX12 5193 HP:0001250 Seizures OMIM:614859 PEX12 5193 HP:0002240 Hepatomegaly OMIM:614859 PEX12 5193 HP:0008935 Generalized neonatal hypotonia OMIM:614859 PEX12 5193 HP:0010655 Epiphyseal stippling OMIM:614859 PEX12 5193 HP:0000007 Autosomal recessive inheritance OMIM:614859 PEX12 5193 HP:0008872 Feeding difficulties in infancy OMIM:607313 ROBO3 64221 HP:0100543 Cognitive impairment OMIM:607313 ROBO3 64221 HP:0002944 Thoracolumbar scoliosis OMIM:607313 ROBO3 64221 HP:0002808 Kyphosis OMIM:607313 ROBO3 64221 HP:0003577 Congenital onset OMIM:607313 ROBO3 64221 HP:0001250 Seizures OMIM:607313 ROBO3 64221 HP:0000639 Nystagmus OMIM:607313 ROBO3 64221 HP:0007817 Horizontal supranuclear gaze palsy OMIM:607313 ROBO3 64221 HP:0000007 Autosomal recessive inheritance OMIM:607313 ROBO3 64221 HP:0000407 Sensorineural hearing impairment OMIM:607313 ROBO3 64221 HP:0007650 Progressive ophthalmoplegia OMIM:607313 ROBO3 64221 HP:0000470 Short neck OMIM:107680 APOA1 335 HP:0007759 Opacification of the corneal stroma OMIM:107680 APOA1 335 HP:0001917 Renal amyloidosis OMIM:107680 APOA1 335 HP:0000006 Autosomal dominant inheritance OMIM:107680 APOA1 335 HP:0001271 Polyneuropathy OMIM:107680 APOA1 335 HP:0001635 Congestive heart failure OMIM:107680 APOA1 335 HP:0000083 Renal insufficiency OMIM:107680 APOA1 335 HP:0004929 Coronary atherosclerosis OMIM:107680 APOA1 335 HP:0004398 Peptic ulcer OMIM:601317 MYO7A 4647 HP:0000006 Autosomal dominant inheritance OMIM:601317 MYO7A 4647 HP:0002321 Vertigo OMIM:601317 MYO7A 4647 HP:0008619 Bilateral sensorineural hearing impairment OMIM:145001 CDC73 79577 HP:0010566 Hamartoma OMIM:145001 CDC73 79577 HP:0006781 Hurthle cell thyroid adenoma OMIM:145001 CDC73 79577 HP:0000113 Polycystic kidney dysplasia OMIM:145001 CDC73 79577 HP:0003072 Hypercalcemia OMIM:145001 CDC73 79577 HP:0002897 Parathyroid adenoma OMIM:145001 CDC73 79577 HP:0002667 Nephroblastoma (Wilms tumor) OMIM:145001 CDC73 79577 HP:0006766 Papillary renal cell carcinoma OMIM:145001 CDC73 79577 HP:0100027 Recurrent pancreatitis OMIM:145001 CDC73 79577 HP:0000787 Nephrolithiasis OMIM:145001 CDC73 79577 HP:0006735 Renal cortical adenoma OMIM:145001 CDC73 79577 HP:0006780 Parathyroid carcinoma OMIM:145001 CDC73 79577 HP:0000234 Abnormality of the head OMIM:145001 CDC73 79577 HP:0000843 Hyperparathyroidism OMIM:145001 CDC73 79577 HP:0000006 Autosomal dominant inheritance OMIM:145001 CDC73 79577 HP:0006725 Pancreatic adenocarcinoma ORPHANET:861 TCOF1 6949 HP:0002652 Skeletal dysplasia ORPHANET:861 TCOF1 6949 HP:0000689 Dental malocclusion ORPHANET:861 TCOF1 6949 HP:0002167 Neurological speech impairment ORPHANET:861 TCOF1 6949 HP:0000431 Wide nasal bridge ORPHANET:861 TCOF1 6949 HP:0000518 Cataract ORPHANET:861 TCOF1 6949 HP:0000405 Conductive hearing impairment ORPHANET:861 TCOF1 6949 HP:0000154 Wide mouth ORPHANET:861 TCOF1 6949 HP:0002575 Tracheoesophageal fistula ORPHANET:861 TCOF1 6949 HP:0000834 Abnormality of the adrenal glands ORPHANET:861 TCOF1 6949 HP:0000413 Atresia of the external auditory canal ORPHANET:861 TCOF1 6949 HP:0000294 Low anterior hairline ORPHANET:861 TCOF1 6949 HP:0000204 Cleft upper lip ORPHANET:861 TCOF1 6949 HP:0005701 Multiple enchondromatosis ORPHANET:861 TCOF1 6949 HP:0000211 Trismus ORPHANET:861 TCOF1 6949 HP:0000272 Malar flattening ORPHANET:861 TCOF1 6949 HP:0000820 Abnormality of the thyroid gland ORPHANET:861 TCOF1 6949 HP:0000028 Cryptorchidism ORPHANET:861 TCOF1 6949 HP:0000316 Hypertelorism ORPHANET:861 TCOF1 6949 HP:0000162 Glossoptosis ORPHANET:861 TCOF1 6949 HP:0000499 Abnormality of the eyelashes ORPHANET:861 TCOF1 6949 HP:0002007 Frontal bossing ORPHANET:861 TCOF1 6949 HP:0010515 Aplasia/Hypoplasia of the thymus ORPHANET:861 TCOF1 6949 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:861 TCOF1 6949 HP:0000347 Micrognathia ORPHANET:861 TCOF1 6949 HP:0006482 Abnormality of dental morphology ORPHANET:861 TCOF1 6949 HP:0004348 Abnormality of bone mineral density ORPHANET:861 TCOF1 6949 HP:0000612 Iris coloboma ORPHANET:861 TCOF1 6949 HP:0000384 Preauricular skin tag ORPHANET:861 TCOF1 6949 HP:0009804 Reduced number of teeth ORPHANET:861 TCOF1 6949 HP:0002093 Respiratory insufficiency ORPHANET:861 TCOF1 6949 HP:0000453 Choanal atresia ORPHANET:861 TCOF1 6949 HP:0100589 Urogenital fistula ORPHANET:861 TCOF1 6949 HP:0002084 Encephalocele ORPHANET:861 TCOF1 6949 HP:0000625 Cleft eyelid ORPHANET:861 TCOF1 6949 HP:0008736 Hypoplasia of penis ORPHANET:861 TCOF1 6949 HP:0000505 Visual impairment ORPHANET:861 TCOF1 6949 HP:0000682 Abnormality of dental enamel ORPHANET:861 TCOF1 6949 HP:0002006 Facial cleft ORPHANET:861 TCOF1 6949 HP:0100543 Cognitive impairment ORPHANET:861 TCOF1 6949 HP:0000274 Small face ORPHANET:861 TCOF1 6949 HP:0000486 Strabismus ORPHANET:861 TCOF1 6949 HP:0001643 Patent ductus arteriosus ORPHANET:861 TCOF1 6949 HP:0000175 Cleft palate ORPHANET:861 TCOF1 6949 HP:0010669 Cheekbone underdevelopment ORPHANET:861 TCOF1 6949 HP:0000494 Downslanted palpebral fissures ORPHANET:861 TCOF1 6949 HP:0000046 Scrotal hypoplasia ORPHANET:861 POLR1D 51082 HP:0002652 Skeletal dysplasia ORPHANET:861 POLR1D 51082 HP:0000689 Dental malocclusion ORPHANET:861 POLR1D 51082 HP:0002167 Neurological speech impairment ORPHANET:861 POLR1D 51082 HP:0000431 Wide nasal bridge ORPHANET:861 POLR1D 51082 HP:0000518 Cataract ORPHANET:861 POLR1D 51082 HP:0000405 Conductive hearing impairment ORPHANET:861 POLR1D 51082 HP:0000154 Wide mouth ORPHANET:861 POLR1D 51082 HP:0002575 Tracheoesophageal fistula ORPHANET:861 POLR1D 51082 HP:0000834 Abnormality of the adrenal glands ORPHANET:861 POLR1D 51082 HP:0000413 Atresia of the external auditory canal ORPHANET:861 POLR1D 51082 HP:0000294 Low anterior hairline ORPHANET:861 POLR1D 51082 HP:0000204 Cleft upper lip ORPHANET:861 POLR1D 51082 HP:0005701 Multiple enchondromatosis ORPHANET:861 POLR1D 51082 HP:0000211 Trismus ORPHANET:861 POLR1D 51082 HP:0000272 Malar flattening ORPHANET:861 POLR1D 51082 HP:0000820 Abnormality of the thyroid gland ORPHANET:861 POLR1D 51082 HP:0000028 Cryptorchidism ORPHANET:861 POLR1D 51082 HP:0000316 Hypertelorism ORPHANET:861 POLR1D 51082 HP:0000162 Glossoptosis ORPHANET:861 POLR1D 51082 HP:0000499 Abnormality of the eyelashes ORPHANET:861 POLR1D 51082 HP:0002007 Frontal bossing ORPHANET:861 POLR1D 51082 HP:0010515 Aplasia/Hypoplasia of the thymus ORPHANET:861 POLR1D 51082 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:861 POLR1D 51082 HP:0000347 Micrognathia ORPHANET:861 POLR1D 51082 HP:0006482 Abnormality of dental morphology ORPHANET:861 POLR1D 51082 HP:0004348 Abnormality of bone mineral density ORPHANET:861 POLR1D 51082 HP:0000612 Iris coloboma ORPHANET:861 POLR1D 51082 HP:0000384 Preauricular skin tag ORPHANET:861 POLR1D 51082 HP:0009804 Reduced number of teeth ORPHANET:861 POLR1D 51082 HP:0002093 Respiratory insufficiency ORPHANET:861 POLR1D 51082 HP:0000453 Choanal atresia ORPHANET:861 POLR1D 51082 HP:0100589 Urogenital fistula ORPHANET:861 POLR1D 51082 HP:0002084 Encephalocele ORPHANET:861 POLR1D 51082 HP:0000625 Cleft eyelid ORPHANET:861 POLR1D 51082 HP:0008736 Hypoplasia of penis ORPHANET:861 POLR1D 51082 HP:0000505 Visual impairment ORPHANET:861 POLR1D 51082 HP:0000682 Abnormality of dental enamel ORPHANET:861 POLR1D 51082 HP:0002006 Facial cleft ORPHANET:861 POLR1D 51082 HP:0100543 Cognitive impairment ORPHANET:861 POLR1D 51082 HP:0000274 Small face ORPHANET:861 POLR1D 51082 HP:0000486 Strabismus ORPHANET:861 POLR1D 51082 HP:0001643 Patent ductus arteriosus ORPHANET:861 POLR1D 51082 HP:0000175 Cleft palate ORPHANET:861 POLR1D 51082 HP:0010669 Cheekbone underdevelopment ORPHANET:861 POLR1D 51082 HP:0000494 Downslanted palpebral fissures ORPHANET:861 POLR1D 51082 HP:0000046 Scrotal hypoplasia ORPHANET:861 POLR1C 9533 HP:0002652 Skeletal dysplasia ORPHANET:861 POLR1C 9533 HP:0000689 Dental malocclusion ORPHANET:861 POLR1C 9533 HP:0002167 Neurological speech impairment ORPHANET:861 POLR1C 9533 HP:0000431 Wide nasal bridge ORPHANET:861 POLR1C 9533 HP:0000518 Cataract ORPHANET:861 POLR1C 9533 HP:0000405 Conductive hearing impairment ORPHANET:861 POLR1C 9533 HP:0000154 Wide mouth ORPHANET:861 POLR1C 9533 HP:0002575 Tracheoesophageal fistula ORPHANET:861 POLR1C 9533 HP:0000834 Abnormality of the adrenal glands ORPHANET:861 POLR1C 9533 HP:0000413 Atresia of the external auditory canal ORPHANET:861 POLR1C 9533 HP:0000294 Low anterior hairline ORPHANET:861 POLR1C 9533 HP:0000204 Cleft upper lip ORPHANET:861 POLR1C 9533 HP:0005701 Multiple enchondromatosis ORPHANET:861 POLR1C 9533 HP:0000211 Trismus ORPHANET:861 POLR1C 9533 HP:0000272 Malar flattening ORPHANET:861 POLR1C 9533 HP:0000820 Abnormality of the thyroid gland ORPHANET:861 POLR1C 9533 HP:0000028 Cryptorchidism ORPHANET:861 POLR1C 9533 HP:0000316 Hypertelorism ORPHANET:861 POLR1C 9533 HP:0000162 Glossoptosis ORPHANET:861 POLR1C 9533 HP:0000499 Abnormality of the eyelashes ORPHANET:861 POLR1C 9533 HP:0002007 Frontal bossing ORPHANET:861 POLR1C 9533 HP:0010515 Aplasia/Hypoplasia of the thymus ORPHANET:861 POLR1C 9533 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:861 POLR1C 9533 HP:0000347 Micrognathia ORPHANET:861 POLR1C 9533 HP:0006482 Abnormality of dental morphology ORPHANET:861 POLR1C 9533 HP:0004348 Abnormality of bone mineral density ORPHANET:861 POLR1C 9533 HP:0000612 Iris coloboma ORPHANET:861 POLR1C 9533 HP:0000384 Preauricular skin tag ORPHANET:861 POLR1C 9533 HP:0009804 Reduced number of teeth ORPHANET:861 POLR1C 9533 HP:0002093 Respiratory insufficiency ORPHANET:861 POLR1C 9533 HP:0000453 Choanal atresia ORPHANET:861 POLR1C 9533 HP:0100589 Urogenital fistula ORPHANET:861 POLR1C 9533 HP:0002084 Encephalocele ORPHANET:861 POLR1C 9533 HP:0000625 Cleft eyelid ORPHANET:861 POLR1C 9533 HP:0008736 Hypoplasia of penis ORPHANET:861 POLR1C 9533 HP:0000505 Visual impairment ORPHANET:861 POLR1C 9533 HP:0000682 Abnormality of dental enamel ORPHANET:861 POLR1C 9533 HP:0002006 Facial cleft ORPHANET:861 POLR1C 9533 HP:0100543 Cognitive impairment ORPHANET:861 POLR1C 9533 HP:0000274 Small face ORPHANET:861 POLR1C 9533 HP:0000486 Strabismus ORPHANET:861 POLR1C 9533 HP:0001643 Patent ductus arteriosus ORPHANET:861 POLR1C 9533 HP:0000175 Cleft palate ORPHANET:861 POLR1C 9533 HP:0010669 Cheekbone underdevelopment ORPHANET:861 POLR1C 9533 HP:0000494 Downslanted palpebral fissures ORPHANET:861 POLR1C 9533 HP:0000046 Scrotal hypoplasia OMIM:615872 CCNO 10309 HP:0100750 Atelectasis OMIM:615872 CCNO 10309 HP:0012265 Ciliary dyskinesia OMIM:615872 CCNO 10309 HP:0002110 Bronchiectasis OMIM:615872 CCNO 10309 HP:0002205 Recurrent respiratory infections OMIM:615872 CCNO 10309 HP:0000789 Infertility OMIM:614377 WDR19 57728 HP:0000089 Renal hypoplasia OMIM:614377 WDR19 57728 HP:0000090 Nephronophthisis OMIM:614377 WDR19 57728 HP:0012595 Mild proteinuria OMIM:614377 WDR19 57728 HP:0000007 Autosomal recessive inheritance OMIM:614377 WDR19 57728 HP:0003774 Stage 5 chronic kidney disease OMIM:243310 ACTB 60 HP:0000054 Micropenis OMIM:243310 ACTB 60 HP:0001274 Agenesis of corpus callosum OMIM:243310 ACTB 60 HP:0000252 Microcephaly OMIM:243310 ACTB 60 HP:0001650 Aortic valve stenosis OMIM:243310 ACTB 60 HP:0000006 Autosomal dominant inheritance OMIM:243310 ACTB 60 HP:0000612 Iris coloboma OMIM:243310 ACTB 60 HP:0000470 Short neck OMIM:243310 ACTB 60 HP:0000396 Overfolded helix OMIM:243310 ACTB 60 HP:0000219 Thin upper lip vermilion OMIM:243310 ACTB 60 HP:0001643 Patent ductus arteriosus OMIM:243310 ACTB 60 HP:0008897 Postnatal growth retardation OMIM:243310 ACTB 60 HP:0000316 Hypertelorism OMIM:243310 ACTB 60 HP:0001302 Pachygyria OMIM:243310 ACTB 60 HP:0004322 Short stature OMIM:243310 ACTB 60 HP:0000431 Wide nasal bridge OMIM:243310 ACTB 60 HP:0001939 Abnormality of metabolism/homeostasis OMIM:243310 ACTB 60 HP:0000007 Autosomal recessive inheritance OMIM:243310 ACTB 60 HP:0002162 Low posterior hairline OMIM:243310 ACTB 60 HP:0003196 Short nose OMIM:243310 ACTB 60 HP:0001647 Bicuspid aortic valve OMIM:243310 ACTB 60 HP:0001263 Global developmental delay OMIM:243310 ACTB 60 HP:0001250 Seizures OMIM:243310 ACTB 60 HP:0000154 Wide mouth OMIM:243310 ACTB 60 HP:0000508 Ptosis OMIM:243310 ACTB 60 HP:0001339 Lissencephaly OMIM:243310 ACTB 60 HP:0000343 Long philtrum OMIM:243310 ACTB 60 HP:0000243 Trigonocephaly OMIM:243310 ACTB 60 HP:0000369 Low-set ears OMIM:243310 ACTB 60 HP:0000407 Sensorineural hearing impairment OMIM:243310 ACTB 60 HP:0007930 Prominent epicanthal folds OMIM:243310 ACTB 60 HP:0001252 Muscular hypotonia OMIM:243310 ACTB 60 HP:0000028 Cryptorchidism OMIM:243310 ACTB 60 HP:0000567 Chorioretinal coloboma OMIM:615544 ERMARD 55780 HP:0001250 Seizures OMIM:615544 ERMARD 55780 HP:0000750 Delayed speech and language development OMIM:615544 ERMARD 55780 HP:0002282 Heterotopia OMIM:615544 ERMARD 55780 HP:0000006 Autosomal dominant inheritance OMIM:615544 ERMARD 55780 HP:0000486 Strabismus OMIM:615544 ERMARD 55780 HP:0001263 Global developmental delay OMIM:615544 ERMARD 55780 HP:0002521 Hypsarrhythmia OMIM:246900 DLD 1738 HP:0001942 Metabolic acidosis OMIM:246900 DLD 1738 HP:0001943 Hypoglycemia OMIM:246900 DLD 1738 HP:0002910 Elevated hepatic transaminases OMIM:246900 DLD 1738 HP:0001332 Dystonia OMIM:246900 DLD 1738 HP:0003128 Lactic acidosis OMIM:246900 DLD 1738 HP:0001251 Ataxia OMIM:246900 DLD 1738 HP:0100543 Cognitive impairment OMIM:246900 DLD 1738 HP:0001288 Gait disturbance OMIM:246900 DLD 1738 HP:0001252 Muscular hypotonia OMIM:246900 DLD 1738 HP:0003828 Variable expressivity OMIM:246900 DLD 1738 HP:0003355 Aminoaciduria OMIM:246900 DLD 1738 HP:0001639 Hypertrophic cardiomyopathy OMIM:246900 DLD 1738 HP:0001298 Encephalopathy OMIM:246900 DLD 1738 HP:0001399 Hepatic failure OMIM:246900 DLD 1738 HP:0002240 Hepatomegaly OMIM:246900 DLD 1738 HP:0001410 Decreased liver function OMIM:246900 DLD 1738 HP:0001250 Seizures OMIM:246900 DLD 1738 HP:0001263 Global developmental delay OMIM:246900 DLD 1738 HP:0011968 Feeding difficulties OMIM:246900 DLD 1738 HP:0000007 Autosomal recessive inheritance OMIM:246900 DLD 1738 HP:0001254 Lethargy OMIM:246900 DLD 1738 HP:0000252 Microcephaly OMIM:610015 GLUL 2752 HP:0012444 Brain atrophy OMIM:610015 GLUL 2752 HP:0002104 Apnea OMIM:610015 GLUL 2752 HP:0002983 Micromelia OMIM:610015 GLUL 2752 HP:0001522 Death in infancy OMIM:610015 GLUL 2752 HP:0000007 Autosomal recessive inheritance OMIM:610015 GLUL 2752 HP:0001298 Encephalopathy OMIM:610015 GLUL 2752 HP:0001662 Bradycardia OMIM:610015 GLUL 2752 HP:0002079 Hypoplasia of the corpus callosum OMIM:610015 GLUL 2752 HP:0001987 Hyperammonemia OMIM:610015 GLUL 2752 HP:0000431 Wide nasal bridge OMIM:610015 GLUL 2752 HP:0003429 CNS hypomyelination OMIM:610015 GLUL 2752 HP:0000369 Low-set ears OMIM:610015 GLUL 2752 HP:0000988 Skin rash OMIM:610015 GLUL 2752 HP:0001347 Hyperreflexia OMIM:610015 GLUL 2752 HP:0002093 Respiratory insufficiency OMIM:610015 GLUL 2752 HP:0007109 Periventricular cysts OMIM:610015 GLUL 2752 HP:0002416 Subependymal cysts OMIM:610015 GLUL 2752 HP:0001252 Muscular hypotonia OMIM:610015 GLUL 2752 HP:0011344 Severe global developmental delay OMIM:610015 GLUL 2752 HP:0001250 Seizures OMIM:610015 GLUL 2752 HP:0002119 Ventriculomegaly OMIM:610015 GLUL 2752 HP:0005280 Depressed nasal bridge OMIM:610015 GLUL 2752 HP:0001371 Flexion contracture OMIM:610768 DOLK 22845 HP:0008064 Ichthyosis OMIM:610768 DOLK 22845 HP:0002910 Elevated hepatic transaminases OMIM:610768 DOLK 22845 HP:0001644 Dilated cardiomyopathy OMIM:610768 DOLK 22845 HP:0001928 Abnormality of coagulation OMIM:610768 DOLK 22845 HP:0001508 Failure to thrive OMIM:610768 DOLK 22845 HP:0009776 Adactyly OMIM:610768 DOLK 22845 HP:0001744 Splenomegaly OMIM:610768 DOLK 22845 HP:0003160 Abnormal isoelectric focusing of serum transferrin OMIM:610768 DOLK 22845 HP:0006709 Aplasia/Hypoplasia of the nipples OMIM:610768 DOLK 22845 HP:0002521 Hypsarrhythmia OMIM:610768 DOLK 22845 HP:0002612 Congenital hepatic fibrosis OMIM:610768 DOLK 22845 HP:0000535 Sparse eyebrow OMIM:610768 DOLK 22845 HP:0000653 Sparse eyelashes OMIM:610768 DOLK 22845 HP:0001250 Seizures OMIM:610768 DOLK 22845 HP:0000007 Autosomal recessive inheritance OMIM:610768 DOLK 22845 HP:0002240 Hepatomegaly OMIM:610768 DOLK 22845 HP:0001252 Muscular hypotonia OMIM:610768 DOLK 22845 HP:0000958 Dry skin OMIM:610768 DOLK 22845 HP:0001985 Hypoketotic hypoglycemia OMIM:610768 DOLK 22845 HP:0100578 Lipoatrophy OMIM:610768 DOLK 22845 HP:0100543 Cognitive impairment OMIM:610768 DOLK 22845 HP:0001522 Death in infancy OMIM:610768 DOLK 22845 HP:0005484 Postnatal microcephaly OMIM:610768 DOLK 22845 HP:0003326 Myalgia OMIM:610768 DOLK 22845 HP:0002120 Cerebral cortical atrophy ORPHANET:261144 FOXG1 2290 HP:0009738 Abnormality of the antihelix ORPHANET:261144 FOXG1 2290 HP:0000232 Everted lower lip vermilion ORPHANET:261144 FOXG1 2290 HP:0000303 Mandibular prognathia ORPHANET:261144 FOXG1 2290 HP:0003781 Excessive salivation ORPHANET:261144 FOXG1 2290 HP:0001252 Muscular hypotonia ORPHANET:261144 FOXG1 2290 HP:0000581 Blepharophimosis ORPHANET:261144 FOXG1 2290 HP:0002650 Scoliosis ORPHANET:261144 FOXG1 2290 HP:0003196 Short nose ORPHANET:261144 FOXG1 2290 HP:0100022 Abnormality of movement ORPHANET:261144 FOXG1 2290 HP:0005487 Prominent metopic ridge ORPHANET:261144 FOXG1 2290 HP:0000157 Abnormality of the tongue ORPHANET:261144 FOXG1 2290 HP:0010804 Tented upper lip vermilion ORPHANET:261144 FOXG1 2290 HP:0002376 Developmental regression ORPHANET:261144 FOXG1 2290 HP:0000494 Downslanted palpebral fissures ORPHANET:261144 FOXG1 2290 HP:0001250 Seizures ORPHANET:261144 FOXG1 2290 HP:0002167 Neurological speech impairment ORPHANET:261144 FOXG1 2290 HP:0100540 Palpebral edema ORPHANET:261144 FOXG1 2290 HP:0000252 Microcephaly ORPHANET:261144 FOXG1 2290 HP:0002808 Kyphosis ORPHANET:261144 FOXG1 2290 HP:0000733 Stereotypic behavior ORPHANET:261144 FOXG1 2290 HP:0005280 Depressed nasal bridge ORPHANET:261144 FOXG1 2290 HP:0000286 Epicanthus ORPHANET:261144 FOXG1 2290 HP:0000288 Abnormality of the philtrum ORPHANET:261144 FOXG1 2290 HP:0100543 Cognitive impairment ORPHANET:261144 FOXG1 2290 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:612310 FIGLA 344018 HP:0001470 Sex-limited autosomal dominant OMIM:612310 FIGLA 344018 HP:0008209 Premature ovarian failure OMIM:615444 ZMYND10 51364 HP:0004469 Chronic bronchitis OMIM:615444 ZMYND10 51364 HP:0012384 Rhinitis OMIM:615444 ZMYND10 51364 HP:0002110 Bronchiectasis OMIM:615444 ZMYND10 51364 HP:0000007 Autosomal recessive inheritance OMIM:615444 ZMYND10 51364 HP:0100582 Nasal polyposis OMIM:615444 ZMYND10 51364 HP:0000789 Infertility OMIM:615444 ZMYND10 51364 HP:0200073 Respiratory insufficiency due to defective ciliary clearance OMIM:615444 ZMYND10 51364 HP:0000246 Sinusitis OMIM:615444 ZMYND10 51364 HP:0000403 Recurrent otitis media OMIM:615444 ZMYND10 51364 HP:0001696 Situs inversus totalis OMIM:615444 ZMYND10 51364 HP:0012265 Ciliary dyskinesia OMIM:615444 ZMYND10 51364 HP:0012207 Reduced sperm motility OMIM:611544 CRYBB1 1414 HP:0000519 Congenital cataract OMIM:611544 CRYBB1 1414 HP:0100018 Nuclear cataract OMIM:611544 CRYBB1 1414 HP:0000007 Autosomal recessive inheritance OMIM:614250 MOG 4340 HP:0001513 Obesity OMIM:614250 MOG 4340 HP:0030050 Narcolepsy OMIM:614250 MOG 4340 HP:0002524 Cataplexy OMIM:614250 MOG 4340 HP:0000006 Autosomal dominant inheritance OMIM:614250 MOG 4340 HP:0002189 Excessive daytime sleepiness OMIM:120430 PAX6 5080 HP:0007703 Abnormal retinal pigmentation OMIM:120430 PAX6 5080 HP:0000639 Nystagmus OMIM:120430 PAX6 5080 HP:0000006 Autosomal dominant inheritance OMIM:120430 PAX6 5080 HP:0000541 Retinal detachment OMIM:120430 PAX6 5080 HP:0000505 Visual impairment OMIM:120430 PAX6 5080 HP:0000518 Cataract OMIM:120430 PAX6 5080 HP:0000588 Optic nerve coloboma OMIM:120430 PAX6 5080 HP:0000486 Strabismus OMIM:120430 PAX6 5080 HP:0000648 Optic atrophy OMIM:111150 KLF1 10661 HP:0010971 Absence of Lutheran antigen on erythrocytes OMIM:615707 FCGR3A 2214 HP:0002721 Immunodeficiency OMIM:615707 FCGR3A 2214 HP:0000246 Sinusitis OMIM:615707 FCGR3A 2214 HP:0000403 Recurrent otitis media OMIM:615707 FCGR3A 2214 HP:0000007 Autosomal recessive inheritance OMIM:615707 FCGR3A 2214 HP:0002205 Recurrent respiratory infections OMIM:162830 CSF3R 1441 HP:0000006 Autosomal dominant inheritance OMIM:162830 CSF3R 1441 HP:0002863 Myelodysplasia OMIM:162830 CSF3R 1441 HP:0001433 Hepatosplenomegaly OMIM:162830 CSF3R 1441 HP:0008318 Elevated leukocyte alkaline phosphatase OMIM:162830 CSF3R 1441 HP:0002684 Thickened calvaria OMIM:300718 FHL1 2273 HP:0001265 Hyporeflexia OMIM:300718 FHL1 2273 HP:0002808 Kyphosis OMIM:300718 FHL1 2273 HP:0001417 X-linked inheritance OMIM:300718 FHL1 2273 HP:0001644 Dilated cardiomyopathy OMIM:300718 FHL1 2273 HP:0003557 Increased variability in muscle fiber diameter OMIM:300718 FHL1 2273 HP:0003307 Hyperlordosis OMIM:300718 FHL1 2273 HP:0002650 Scoliosis OMIM:300718 FHL1 2273 HP:0003701 Proximal muscle weakness OMIM:300718 FHL1 2273 HP:0002359 Frequent falls OMIM:300718 FHL1 2273 HP:0003236 Elevated serum creatine phosphokinase OMIM:300718 FHL1 2273 HP:0003678 Rapidly progressive OMIM:300718 FHL1 2273 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:300718 FHL1 2273 HP:0000470 Short neck OMIM:300718 FHL1 2273 HP:0003306 Spinal rigidity OMIM:300718 FHL1 2273 HP:0001371 Flexion contracture OMIM:611390 MARS2 92935 HP:0002497 Spastic ataxia OMIM:611390 MARS2 92935 HP:0001272 Cerebellar atrophy OMIM:611390 MARS2 92935 HP:0002650 Scoliosis OMIM:611390 MARS2 92935 HP:0001260 Dysarthria OMIM:611390 MARS2 92935 HP:0100543 Cognitive impairment OMIM:611390 MARS2 92935 HP:0001310 Dysmetria OMIM:611390 MARS2 92935 HP:0000365 Hearing impairment OMIM:611390 MARS2 92935 HP:0001257 Spasticity OMIM:611390 MARS2 92935 HP:0001347 Hyperreflexia OMIM:611390 MARS2 92935 HP:0002352 Leukoencephalopathy OMIM:611390 MARS2 92935 HP:0000007 Autosomal recessive inheritance OMIM:611390 MARS2 92935 HP:0012712 Mild hearing impairment OMIM:611390 MARS2 92935 HP:0000666 Horizontal nystagmus OMIM:611390 MARS2 92935 HP:0002066 Gait ataxia OMIM:611390 MARS2 92935 HP:0000012 Urinary urgency OMIM:611390 MARS2 92935 HP:0001332 Dystonia OMIM:611390 MARS2 92935 HP:0002120 Cerebral cortical atrophy OMIM:613092 REN 5972 HP:0012622 Chronic kidney disease OMIM:613092 REN 5972 HP:0000092 Tubular atrophy OMIM:613092 REN 5972 HP:0001903 Anemia OMIM:613092 REN 5972 HP:0000089 Renal hypoplasia OMIM:613092 REN 5972 HP:0004719 Hyperechogenic kidneys OMIM:613092 REN 5972 HP:0005576 Tubulointerstitial fibrosis OMIM:613092 REN 5972 HP:0002149 Hyperuricemia OMIM:613092 REN 5972 HP:0000006 Autosomal dominant inheritance OMIM:613092 REN 5972 HP:0000097 Focal segmental glomerulosclerosis OMIM:601544 GJB2 2706 HP:0000006 Autosomal dominant inheritance OMIM:601544 GJB2 2706 HP:0000407 Sensorineural hearing impairment OMIM:146510 GLI3 2737 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:146510 GLI3 2737 HP:0010564 Bifid epiglottis OMIM:146510 GLI3 2737 HP:0001830 Postaxial foot polydactyly OMIM:146510 GLI3 2737 HP:0000568 Microphthalmos OMIM:146510 GLI3 2737 HP:0002251 Aganglionic megacolon OMIM:146510 GLI3 2737 HP:0001629 Ventricular septal defect OMIM:146510 GLI3 2737 HP:0005151 Preductal coarctation of the aorta OMIM:146510 GLI3 2737 HP:0001156 Brachydactyly syndrome OMIM:146510 GLI3 2737 HP:0001162 Postaxial hand polydactyly OMIM:146510 GLI3 2737 HP:0008220 Hypocortisolemia OMIM:146510 GLI3 2737 HP:0008188 Thyroid dysgenesis OMIM:146510 GLI3 2737 HP:0002444 Hypothalamic hamartoma OMIM:146510 GLI3 2737 HP:0000835 Adrenal hypoplasia OMIM:146510 GLI3 2737 HP:0010044 Short 4th metacarpal OMIM:146510 GLI3 2737 HP:0000871 Panhypopituitarism OMIM:146510 GLI3 2737 HP:0004322 Short stature OMIM:146510 GLI3 2737 HP:0001231 Abnormality of the fingernails OMIM:146510 GLI3 2737 HP:0000028 Cryptorchidism OMIM:146510 GLI3 2737 HP:0000830 Anterior hypopituitarism OMIM:146510 GLI3 2737 HP:0000107 Renal cyst OMIM:146510 GLI3 2737 HP:0001770 Toe syndactyly OMIM:146510 GLI3 2737 HP:0008551 Microtia OMIM:146510 GLI3 2737 HP:0005280 Depressed nasal bridge OMIM:146510 GLI3 2737 HP:0003196 Short nose OMIM:146510 GLI3 2737 HP:0001360 Holoprosencephaly OMIM:146510 GLI3 2737 HP:0006402 Distal shortening of limbs OMIM:146510 GLI3 2737 HP:0000695 Natal tooth OMIM:146510 GLI3 2737 HP:0100589 Urogenital fistula OMIM:146510 GLI3 2737 HP:0000110 Renal dysplasia OMIM:146510 GLI3 2737 HP:0000826 Precocious puberty OMIM:146510 GLI3 2737 HP:0012165 Oligodactyly OMIM:146510 GLI3 2737 HP:0000902 Rib fusion OMIM:146510 GLI3 2737 HP:0007601 Midline facial capillary hemangioma OMIM:146510 GLI3 2737 HP:0000463 Anteverted nares OMIM:146510 GLI3 2737 HP:0001654 Abnormality of the heart valves OMIM:146510 GLI3 2737 HP:0002827 Hip dislocation OMIM:146510 GLI3 2737 HP:0000086 Ectopic kidney OMIM:146510 GLI3 2737 HP:0002101 Abnormal lung lobation OMIM:146510 GLI3 2737 HP:0000003 Multicystic kidney dysplasia OMIM:146510 GLI3 2737 HP:0000175 Cleft palate OMIM:146510 GLI3 2737 HP:0006101 Finger syndactyly OMIM:146510 GLI3 2737 HP:0005349 Hypoplasia of the epiglottis OMIM:146510 GLI3 2737 HP:0003048 Radial head subluxation OMIM:146510 GLI3 2737 HP:0000347 Micrognathia OMIM:146510 GLI3 2737 HP:0001250 Seizures OMIM:146510 GLI3 2737 HP:0000171 Microglossia OMIM:146510 GLI3 2737 HP:0000006 Autosomal dominant inheritance OMIM:146510 GLI3 2737 HP:0010112 Mesoaxial foot polydactyly OMIM:146510 GLI3 2737 HP:0000054 Micropenis OMIM:146510 GLI3 2737 HP:0000204 Cleft upper lip OMIM:146510 GLI3 2737 HP:0006159 Mesoaxial hand polydactyly OMIM:146510 GLI3 2737 HP:0002937 Hemivertebrae OMIM:146510 GLI3 2737 HP:0000368 Low-set, posteriorly rotated ears OMIM:146510 GLI3 2737 HP:0002023 Anal atresia OMIM:146510 GLI3 2737 HP:0000089 Renal hypoplasia OMIM:146510 GLI3 2737 HP:0008706 Distal urethral duplication OMIM:146510 GLI3 2737 HP:0008388 Abnormality of the toenails OMIM:146510 GLI3 2737 HP:0001643 Patent ductus arteriosus OMIM:146510 GLI3 2737 HP:0002983 Micromelia OMIM:146510 GLI3 2737 HP:0000708 Behavioral abnormality OMIM:146510 GLI3 2737 HP:0008207 Primary adrenal insufficiency OMIM:146510 GLI3 2737 HP:0006042 Y-shaped metacarpals OMIM:146510 GLI3 2737 HP:0000413 Atresia of the external auditory canal OMIM:146510 GLI3 2737 HP:0002575 Tracheoesophageal fistula OMIM:146510 GLI3 2737 HP:0008678 Renal hypoplasia/aplasia OMIM:146510 GLI3 2737 HP:0008751 Laryngeal cleft OMIM:146510 GLI3 2737 HP:0008734 Decreased testicular size OMIM:146510 GLI3 2737 HP:0003811 Neonatal death OMIM:146510 GLI3 2737 HP:0001511 Intrauterine growth retardation OMIM:146510 GLI3 2737 HP:0002164 Nail dysplasia OMIM:146510 GLI3 2737 HP:0100543 Cognitive impairment OMIM:146510 GLI3 2737 HP:0000824 Growth hormone deficiency OMIM:611818 CAV3 859 HP:0001657 Prolonged QT interval OMIM:611818 CAV3 859 HP:0000006 Autosomal dominant inheritance OMIM:611818 CAV3 859 HP:0004308 Ventricular arrhythmia OMIM:615763 TUBB2A 7280 HP:0002521 Hypsarrhythmia OMIM:615763 TUBB2A 7280 HP:0002365 Hypoplasia of the brainstem OMIM:615763 TUBB2A 7280 HP:0001252 Muscular hypotonia OMIM:615763 TUBB2A 7280 HP:0002119 Ventriculomegaly OMIM:615763 TUBB2A 7280 HP:0002539 Cortical dysplasia OMIM:615763 TUBB2A 7280 HP:0001250 Seizures OMIM:615763 TUBB2A 7280 HP:0009879 Cortical gyral simplification OMIM:615763 TUBB2A 7280 HP:0002079 Hypoplasia of the corpus callosum OMIM:615763 TUBB2A 7280 HP:0001263 Global developmental delay OMIM:615632 ATL3 25923 HP:0003390 Sensory axonal neuropathy OMIM:615632 ATL3 25923 HP:0000006 Autosomal dominant inheritance OMIM:615632 ATL3 25923 HP:0002754 Osteomyelitis OMIM:615632 ATL3 25923 HP:0000962 Hyperkeratosis OMIM:615632 ATL3 25923 HP:0002600 Hyporeflexia of lower limbs OMIM:615632 ATL3 25923 HP:0001822 Hallux valgus OMIM:615632 ATL3 25923 HP:0009771 Osteolytic defects of the phalanges of the hand OMIM:302020 S100G 795 HP:0001417 X-linked inheritance OMIM:609129 DIAPH3 81624 HP:0001963 Abnormal speech discrimination OMIM:609129 DIAPH3 81624 HP:0008529 Absence of acoustic reflex OMIM:609129 DIAPH3 81624 HP:0006958 Abnormal auditory evoked potentials OMIM:609129 DIAPH3 81624 HP:0000407 Sensorineural hearing impairment OMIM:609129 DIAPH3 81624 HP:0000006 Autosomal dominant inheritance OMIM:220210 KIAA0196 9897 HP:0010935 Abnormality of the upper urinary tract OMIM:220210 KIAA0196 9897 HP:0000431 Wide nasal bridge OMIM:220210 KIAA0196 9897 HP:0000921 Missing ribs OMIM:220210 KIAA0196 9897 HP:0000347 Micrognathia OMIM:220210 KIAA0196 9897 HP:0100543 Cognitive impairment OMIM:220210 KIAA0196 9897 HP:0001195 Single umbilical artery OMIM:220210 KIAA0196 9897 HP:0000348 High forehead OMIM:220210 KIAA0196 9897 HP:0000589 Coloboma OMIM:220210 KIAA0196 9897 HP:0003196 Short nose OMIM:220210 KIAA0196 9897 HP:0006101 Finger syndactyly OMIM:220210 KIAA0196 9897 HP:0000612 Iris coloboma OMIM:220210 KIAA0196 9897 HP:0001631 Defect in the atrial septum OMIM:220210 KIAA0196 9897 HP:0001263 Global developmental delay OMIM:220210 KIAA0196 9897 HP:0000238 Hydrocephalus OMIM:220210 KIAA0196 9897 HP:0000648 Optic atrophy OMIM:220210 KIAA0196 9897 HP:0000494 Downslanted palpebral fissures OMIM:220210 KIAA0196 9897 HP:0000256 Macrocephaly OMIM:220210 KIAA0196 9897 HP:0000316 Hypertelorism OMIM:220210 KIAA0196 9897 HP:0000337 Broad forehead OMIM:220210 KIAA0196 9897 HP:0008207 Primary adrenal insufficiency OMIM:220210 KIAA0196 9897 HP:0000007 Autosomal recessive inheritance OMIM:220210 KIAA0196 9897 HP:0005280 Depressed nasal bridge OMIM:220210 KIAA0196 9897 HP:0002007 Frontal bossing OMIM:220210 KIAA0196 9897 HP:0002269 Abnormality of neuronal migration OMIM:220210 KIAA0196 9897 HP:0002205 Recurrent respiratory infections OMIM:220210 KIAA0196 9897 HP:0001511 Intrauterine growth retardation OMIM:220210 KIAA0196 9897 HP:0002937 Hemivertebrae OMIM:220210 KIAA0196 9897 HP:0002162 Low posterior hairline OMIM:220210 KIAA0196 9897 HP:0008736 Hypoplasia of penis OMIM:220210 KIAA0196 9897 HP:0001305 Dandy-Walker malformation OMIM:220210 KIAA0196 9897 HP:0001156 Brachydactyly syndrome OMIM:220210 KIAA0196 9897 HP:0000269 Prominent occiput OMIM:220210 KIAA0196 9897 HP:0001650 Aortic valve stenosis OMIM:220210 KIAA0196 9897 HP:0003422 Vertebral segmentation defect OMIM:220210 KIAA0196 9897 HP:0002650 Scoliosis OMIM:220210 KIAA0196 9897 HP:0000501 Glaucoma OMIM:220210 KIAA0196 9897 HP:0000384 Preauricular skin tag OMIM:220210 KIAA0196 9897 HP:0001252 Muscular hypotonia OMIM:220210 KIAA0196 9897 HP:0001629 Ventricular septal defect OMIM:220210 KIAA0196 9897 HP:0004383 Hypoplastic left heart OMIM:220210 KIAA0196 9897 HP:0007291 Posterior fossa cyst OMIM:220210 KIAA0196 9897 HP:0000175 Cleft palate OMIM:220210 KIAA0196 9897 HP:0000126 Hydronephrosis OMIM:220210 KIAA0196 9897 HP:0001633 Abnormality of the mitral valve OMIM:220210 KIAA0196 9897 HP:0002167 Neurological speech impairment OMIM:220210 KIAA0196 9897 HP:0001636 Tetralogy of Fallot OMIM:220210 KIAA0196 9897 HP:0002808 Kyphosis OMIM:220210 KIAA0196 9897 HP:0000368 Low-set, posteriorly rotated ears OMIM:220210 KIAA0196 9897 HP:0001231 Abnormality of the fingernails OMIM:220210 KIAA0196 9897 HP:0004299 Hernia of the abdominal wall OMIM:220210 KIAA0196 9897 HP:0100589 Urogenital fistula OMIM:220210 KIAA0196 9897 HP:0002023 Anal atresia OMIM:220210 KIAA0196 9897 HP:0000772 Abnormality of the ribs OMIM:220210 KIAA0196 9897 HP:0004322 Short stature OMIM:220210 KIAA0196 9897 HP:0001642 Pulmonic stenosis OMIM:220210 KIAA0196 9897 HP:0004397 Ectopic anus OMIM:220210 KIAA0196 9897 HP:0100627 Displacement of the external urethral meatus OMIM:220210 KIAA0196 9897 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:220210 KIAA0196 9897 HP:0000047 Hypospadias OMIM:220210 KIAA0196 9897 HP:0000470 Short neck OMIM:220210 KIAA0196 9897 HP:0001161 Hand polydactyly OMIM:220210 KIAA0196 9897 HP:0002566 Intestinal malrotation OMIM:220210 KIAA0196 9897 HP:0004414 Abnormality of the pulmonary artery OMIM:220210 KIAA0196 9897 HP:0003272 Abnormality of the hip bone OMIM:220210 KIAA0196 9897 HP:0000835 Adrenal hypoplasia OMIM:220210 KIAA0196 9897 HP:0001159 Syndactyly OMIM:220210 KIAA0196 9897 HP:0001719 Double outlet right ventricle OMIM:220210 KIAA0196 9897 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:220210 KIAA0196 9897 HP:0006709 Aplasia/Hypoplasia of the nipples OMIM:220210 KIAA0196 9897 HP:0001679 Abnormality of the aorta OMIM:220210 KIAA0196 9897 HP:0000824 Growth hormone deficiency OMIM:220210 KIAA0196 9897 HP:0001702 Abnormality of the tricuspid valve OMIM:220210 KIAA0196 9897 HP:0000567 Chorioretinal coloboma OMIM:220210 KIAA0196 9897 HP:0001674 Complete atrioventricular canal defect OMIM:220210 KIAA0196 9897 HP:0000369 Low-set ears OMIM:220210 KIAA0196 9897 HP:0000248 Brachycephaly OMIM:613000 KRT16 3868 HP:0000006 Autosomal dominant inheritance OMIM:613000 KRT16 3868 HP:0000982 Palmoplantar keratoderma OMIM:300376 DMD 1756 HP:0001419 X-linked recessive inheritance OMIM:300376 DMD 1756 HP:0001265 Hyporeflexia OMIM:300376 DMD 1756 HP:0001638 Cardiomyopathy OMIM:300376 DMD 1756 HP:0003560 Muscular dystrophy OMIM:300376 DMD 1756 HP:0003326 Myalgia OMIM:300376 DMD 1756 HP:0001324 Muscle weakness OMIM:300376 DMD 1756 HP:0003236 Elevated serum creatine phosphokinase OMIM:300376 DMD 1756 HP:0011675 Arrhythmia OMIM:300376 DMD 1756 HP:0003707 Calf muscle pseudohypertrophy OMIM:300376 DMD 1756 HP:0003581 Adult onset OMIM:208550 TBX21 30009 HP:0000007 Autosomal recessive inheritance OMIM:208550 TBX21 30009 HP:0002099 Asthma OMIM:208550 TBX21 30009 HP:0012042 Aspirin-induced asthma OMIM:208550 TBX21 30009 HP:0100582 Nasal polyposis OMIM:311150 TIMM8A 1678 HP:0001417 X-linked inheritance OMIM:311150 TIMM8A 1678 HP:0002514 Cerebral calcification OMIM:311150 TIMM8A 1678 HP:0000726 Dementia OMIM:311150 TIMM8A 1678 HP:0008610 Infantile sensorineural hearing impairment OMIM:311150 TIMM8A 1678 HP:0000618 Blindness OMIM:311150 TIMM8A 1678 HP:0003700 Generalized amyotrophy OMIM:311150 TIMM8A 1678 HP:0000648 Optic atrophy ORPHANET:970 FAM134B 54463 HP:0000975 Hyperhidrosis ORPHANET:970 FAM134B 54463 HP:0002797 Osteolysis ORPHANET:970 FAM134B 54463 HP:0005930 Abnormality of epiphysis morphology ORPHANET:970 FAM134B 54463 HP:0004349 Reduced bone mineral density ORPHANET:970 FAM134B 54463 HP:0003028 Abnormality of the ankles ORPHANET:970 FAM134B 54463 HP:0003103 Abnormal cortical bone morphology ORPHANET:970 FAM134B 54463 HP:0003307 Hyperlordosis ORPHANET:970 FAM134B 54463 HP:0002815 Abnormality of the knees ORPHANET:970 FAM134B 54463 HP:0001182 Tapered finger ORPHANET:970 FAM134B 54463 HP:0003272 Abnormality of the hip bone ORPHANET:970 FAM134B 54463 HP:0008388 Abnormality of the toenails ORPHANET:970 FAM134B 54463 HP:0001231 Abnormality of the fingernails ORPHANET:970 FAM134B 54463 HP:0002645 Wormian bones ORPHANET:970 FAM134B 54463 HP:0003202 Skeletal muscle atrophy ORPHANET:970 WNK1 65125 HP:0000975 Hyperhidrosis ORPHANET:970 WNK1 65125 HP:0002797 Osteolysis ORPHANET:970 WNK1 65125 HP:0005930 Abnormality of epiphysis morphology ORPHANET:970 WNK1 65125 HP:0004349 Reduced bone mineral density ORPHANET:970 WNK1 65125 HP:0003028 Abnormality of the ankles ORPHANET:970 WNK1 65125 HP:0003103 Abnormal cortical bone morphology ORPHANET:970 WNK1 65125 HP:0003307 Hyperlordosis ORPHANET:970 WNK1 65125 HP:0002815 Abnormality of the knees ORPHANET:970 WNK1 65125 HP:0001182 Tapered finger ORPHANET:970 WNK1 65125 HP:0003272 Abnormality of the hip bone ORPHANET:970 WNK1 65125 HP:0008388 Abnormality of the toenails ORPHANET:970 WNK1 65125 HP:0001231 Abnormality of the fingernails ORPHANET:970 WNK1 65125 HP:0002645 Wormian bones ORPHANET:970 WNK1 65125 HP:0003202 Skeletal muscle atrophy ORPHANET:970 SCN9A 6335 HP:0000975 Hyperhidrosis ORPHANET:970 SCN9A 6335 HP:0002797 Osteolysis ORPHANET:970 SCN9A 6335 HP:0005930 Abnormality of epiphysis morphology ORPHANET:970 SCN9A 6335 HP:0004349 Reduced bone mineral density ORPHANET:970 SCN9A 6335 HP:0003028 Abnormality of the ankles ORPHANET:970 SCN9A 6335 HP:0003103 Abnormal cortical bone morphology ORPHANET:970 SCN9A 6335 HP:0003307 Hyperlordosis ORPHANET:970 SCN9A 6335 HP:0002815 Abnormality of the knees ORPHANET:970 SCN9A 6335 HP:0001182 Tapered finger ORPHANET:970 SCN9A 6335 HP:0003272 Abnormality of the hip bone ORPHANET:970 SCN9A 6335 HP:0008388 Abnormality of the toenails ORPHANET:970 SCN9A 6335 HP:0001231 Abnormality of the fingernails ORPHANET:970 SCN9A 6335 HP:0002645 Wormian bones ORPHANET:970 SCN9A 6335 HP:0003202 Skeletal muscle atrophy ORPHANET:970 KIF1A 547 HP:0000975 Hyperhidrosis ORPHANET:970 KIF1A 547 HP:0002797 Osteolysis ORPHANET:970 KIF1A 547 HP:0005930 Abnormality of epiphysis morphology ORPHANET:970 KIF1A 547 HP:0004349 Reduced bone mineral density ORPHANET:970 KIF1A 547 HP:0003028 Abnormality of the ankles ORPHANET:970 KIF1A 547 HP:0003103 Abnormal cortical bone morphology ORPHANET:970 KIF1A 547 HP:0003307 Hyperlordosis ORPHANET:970 KIF1A 547 HP:0002815 Abnormality of the knees ORPHANET:970 KIF1A 547 HP:0001182 Tapered finger ORPHANET:970 KIF1A 547 HP:0003272 Abnormality of the hip bone ORPHANET:970 KIF1A 547 HP:0008388 Abnormality of the toenails ORPHANET:970 KIF1A 547 HP:0001231 Abnormality of the fingernails ORPHANET:970 KIF1A 547 HP:0002645 Wormian bones ORPHANET:970 KIF1A 547 HP:0003202 Skeletal muscle atrophy OMIM:137750 MYOC 4653 HP:0000501 Glaucoma OMIM:137750 MYOC 4653 HP:0007905 Abnormal iris vasculature OMIM:137750 MYOC 4653 HP:0000545 Myopia OMIM:137750 MYOC 4653 HP:0000006 Autosomal dominant inheritance OMIM:608800 TSPYL1 7259 HP:0008708 Partial development of the penile shaft OMIM:608800 TSPYL1 7259 HP:0008715 Testicular dysgenesis OMIM:608800 TSPYL1 7259 HP:0001510 Growth delay OMIM:608800 TSPYL1 7259 HP:0002099 Asthma OMIM:608800 TSPYL1 7259 HP:0001662 Bradycardia OMIM:608800 TSPYL1 7259 HP:0006543 Cardiorespiratory arrest OMIM:608800 TSPYL1 7259 HP:0000028 Cryptorchidism OMIM:608800 TSPYL1 7259 HP:0000007 Autosomal recessive inheritance OMIM:608800 TSPYL1 7259 HP:0001645 Sudden cardiac death OMIM:608800 TSPYL1 7259 HP:0002045 Hypothermia OMIM:608800 TSPYL1 7259 HP:0000597 Ophthalmoparesis OMIM:608800 TSPYL1 7259 HP:0001308 Tongue fasciculations OMIM:608800 TSPYL1 7259 HP:0010307 Stridor OMIM:608800 TSPYL1 7259 HP:0008733 Dysplastic testes OMIM:608800 TSPYL1 7259 HP:0000062 Ambiguous genitalia OMIM:608800 TSPYL1 7259 HP:0000478 Abnormality of the eye OMIM:608800 TSPYL1 7259 HP:0001939 Abnormality of metabolism/homeostasis OMIM:608800 TSPYL1 7259 HP:0002270 Abnormality of the autonomic nervous system OMIM:608800 TSPYL1 7259 HP:0001315 Reduced tendon reflexes OMIM:608800 TSPYL1 7259 HP:0002020 Gastroesophageal reflux OMIM:608800 TSPYL1 7259 HP:0008872 Feeding difficulties in infancy OMIM:608800 TSPYL1 7259 HP:0000046 Scrotal hypoplasia OMIM:608800 TSPYL1 7259 HP:0004305 Involuntary movements OMIM:608800 TSPYL1 7259 HP:0008736 Hypoplasia of penis OMIM:608800 TSPYL1 7259 HP:0002104 Apnea OMIM:608800 TSPYL1 7259 HP:0001608 Abnormality of the voice OMIM:608800 TSPYL1 7259 HP:0000033 Ambiguous genitalia, male OMIM:608189 SPINK1 6690 HP:0002894 Neoplasm of the pancreas OMIM:608189 SPINK1 6690 HP:0008205 Insulin-dependent but ketosis-resistant diabetes OMIM:608189 SPINK1 6690 HP:0000007 Autosomal recessive inheritance OMIM:608189 SPINK1 6690 HP:0000006 Autosomal dominant inheritance OMIM:608189 SPINK1 6690 HP:0006280 Chronic pancreatitis OMIM:608189 SPINK1 6690 HP:0005213 Pancreatic calcification OMIM:608189 SPINK1 6690 HP:0002027 Abdominal pain OMIM:611638 SHH 6469 HP:0003829 Incomplete penetrance OMIM:611638 SHH 6469 HP:0001360 Holoprosencephaly OMIM:611638 SHH 6469 HP:0000202 Oral cleft OMIM:611638 SHH 6469 HP:0000568 Microphthalmos OMIM:611638 SHH 6469 HP:0007633 Bilateral microphthalmos OMIM:611638 SHH 6469 HP:0000528 Anophthalmia OMIM:611638 SHH 6469 HP:0000504 Abnormality of vision OMIM:611638 SHH 6469 HP:0007748 Irido-fundal coloboma OMIM:611638 SHH 6469 HP:0003828 Variable expressivity OMIM:611638 SHH 6469 HP:0000006 Autosomal dominant inheritance OMIM:130070 B4GALT7 11285 HP:0001508 Failure to thrive OMIM:130070 B4GALT7 11285 HP:0001075 Atrophic scars OMIM:130070 B4GALT7 11285 HP:0000007 Autosomal recessive inheritance OMIM:130070 B4GALT7 11285 HP:0001388 Joint laxity OMIM:130070 B4GALT7 11285 HP:0001763 Pes planus OMIM:130070 B4GALT7 11285 HP:0004322 Short stature OMIM:130070 B4GALT7 11285 HP:0010511 Long toe OMIM:130070 B4GALT7 11285 HP:0001252 Muscular hypotonia OMIM:130070 B4GALT7 11285 HP:0000520 Proptosis OMIM:130070 B4GALT7 11285 HP:0002673 Coxa valga OMIM:130070 B4GALT7 11285 HP:0000193 Bifid uvula OMIM:130070 B4GALT7 11285 HP:0002209 Sparse scalp hair OMIM:130070 B4GALT7 11285 HP:0000954 Single transverse palmar crease OMIM:130070 B4GALT7 11285 HP:0000938 Osteopenia OMIM:130070 B4GALT7 11285 HP:0000774 Narrow chest OMIM:130070 B4GALT7 11285 HP:0001263 Global developmental delay OMIM:130070 B4GALT7 11285 HP:0007469 Palmoplantar cutis gyrata OMIM:130070 B4GALT7 11285 HP:0000387 Absent earlobe OMIM:130070 B4GALT7 11285 HP:0011308 Slender toe OMIM:130070 B4GALT7 11285 HP:0000256 Macrocephaly OMIM:130070 B4GALT7 11285 HP:0000160 Narrow mouth OMIM:130070 B4GALT7 11285 HP:0001166 Arachnodactyly OMIM:130070 B4GALT7 11285 HP:0000274 Small face OMIM:130070 B4GALT7 11285 HP:0000431 Wide nasal bridge OMIM:130070 B4GALT7 11285 HP:0000894 Short clavicles OMIM:130070 B4GALT7 11285 HP:0002974 Radioulnar synostosis OMIM:300554 CLCN5 1184 HP:0010502 Fibular bowing OMIM:300554 CLCN5 1184 HP:0003025 Metaphyseal irregularity OMIM:300554 CLCN5 1184 HP:0002753 Thin bony cortex OMIM:300554 CLCN5 1184 HP:0002148 Hypophosphatemia OMIM:300554 CLCN5 1184 HP:0000121 Nephrocalcinosis OMIM:300554 CLCN5 1184 HP:0003126 Low-molecular-weight proteinuria OMIM:300554 CLCN5 1184 HP:0002653 Bone pain OMIM:300554 CLCN5 1184 HP:0002757 Recurrent fractures OMIM:300554 CLCN5 1184 HP:0012622 Chronic kidney disease OMIM:300554 CLCN5 1184 HP:0000787 Nephrolithiasis OMIM:300554 CLCN5 1184 HP:0002150 Hypercalciuria OMIM:300554 CLCN5 1184 HP:0002748 Rickets OMIM:300554 CLCN5 1184 HP:0002749 Osteomalacia OMIM:300554 CLCN5 1184 HP:0001419 X-linked recessive inheritance OMIM:300554 CLCN5 1184 HP:0002980 Femoral bowing OMIM:300554 CLCN5 1184 HP:0000114 Proximal tubulopathy OMIM:300554 CLCN5 1184 HP:0003152 Increased serum 1,25-dihydroxyvitamin D3 OMIM:300554 CLCN5 1184 HP:0002982 Tibial bowing OMIM:300554 CLCN5 1184 HP:0003013 Bulging epiphyses OMIM:300554 CLCN5 1184 HP:0003020 Enlargement of the wrists OMIM:300554 CLCN5 1184 HP:0004912 Hypophosphatemic rickets OMIM:300554 CLCN5 1184 HP:0000117 Renal phosphate wasting OMIM:300554 CLCN5 1184 HP:0002752 Sparse bone trabeculae OMIM:300554 CLCN5 1184 HP:0004322 Short stature OMIM:300554 CLCN5 1184 HP:0002663 Delayed epiphyseal ossification OMIM:300554 CLCN5 1184 HP:0002979 Bowing of the legs OMIM:300554 CLCN5 1184 HP:0003029 Enlargement of the ankles OMIM:300554 CLCN5 1184 HP:0003812 Phenotypic variability OMIM:616111 UQCC3 790955 HP:0003128 Lactic acidosis OMIM:616111 UQCC3 790955 HP:0001252 Muscular hypotonia OMIM:616111 UQCC3 790955 HP:0001510 Growth delay OMIM:616111 UQCC3 790955 HP:0002151 Increased serum lactate OMIM:616111 UQCC3 790955 HP:0011968 Feeding difficulties OMIM:616111 UQCC3 790955 HP:0001263 Global developmental delay OMIM:616111 UQCC3 790955 HP:0001943 Hypoglycemia OMIM:123500 FGFR2 2263 HP:0000405 Conductive hearing impairment OMIM:123500 FGFR2 2263 HP:0004440 Coronal craniosynostosis OMIM:123500 FGFR2 2263 HP:0000248 Brachycephaly OMIM:123500 FGFR2 2263 HP:0000303 Mandibular prognathia OMIM:123500 FGFR2 2263 HP:0000678 Dental crowding OMIM:123500 FGFR2 2263 HP:0000316 Hypertelorism OMIM:123500 FGFR2 2263 HP:0010535 Sleep apnea OMIM:123500 FGFR2 2263 HP:0000995 Melanocytic nevus OMIM:123500 FGFR2 2263 HP:0001739 Abnormality of the nasopharynx OMIM:123500 FGFR2 2263 HP:0000327 Hypoplasia of the maxilla OMIM:123500 FGFR2 2263 HP:0000648 Optic atrophy OMIM:123500 FGFR2 2263 HP:0004439 Craniofacial dysostosis OMIM:123500 FGFR2 2263 HP:0000508 Ptosis OMIM:123500 FGFR2 2263 HP:0000505 Visual impairment OMIM:123500 FGFR2 2263 HP:0000612 Iris coloboma OMIM:123500 FGFR2 2263 HP:0000413 Atresia of the external auditory canal OMIM:123500 FGFR2 2263 HP:0000486 Strabismus OMIM:123500 FGFR2 2263 HP:0004443 Lambdoidal craniosynostosis OMIM:123500 FGFR2 2263 HP:0002093 Respiratory insufficiency OMIM:123500 FGFR2 2263 HP:0001250 Seizures OMIM:123500 FGFR2 2263 HP:0001249 Intellectual disability OMIM:123500 FGFR2 2263 HP:0000956 Acanthosis nigricans OMIM:123500 FGFR2 2263 HP:0001363 Craniosynostosis OMIM:123500 FGFR2 2263 HP:0002308 Arnold-Chiari malformation OMIM:123500 FGFR2 2263 HP:0000238 Hydrocephalus OMIM:123500 FGFR2 2263 HP:0000509 Conjunctivitis OMIM:123500 FGFR2 2263 HP:0001999 Abnormal facial shape OMIM:123500 FGFR2 2263 HP:0000444 Convex nasal ridge OMIM:123500 FGFR2 2263 HP:0002076 Migraine OMIM:123500 FGFR2 2263 HP:0002007 Frontal bossing OMIM:123500 FGFR2 2263 HP:0000174 Abnormality of the palate OMIM:123500 FGFR2 2263 HP:0000453 Choanal atresia OMIM:123500 FGFR2 2263 HP:0002516 Increased intracranial pressure OMIM:123500 FGFR2 2263 HP:0001053 Hypopigmented skin patches OMIM:123500 FGFR2 2263 HP:0000586 Shallow orbits OMIM:123500 FGFR2 2263 HP:0000348 High forehead OMIM:123500 FGFR2 2263 HP:0005107 Abnormality of the sacrum OMIM:123500 FGFR2 2263 HP:0004442 Sagittal craniosynostosis OMIM:123500 FGFR2 2263 HP:0003319 Abnormality of the cervical spine OMIM:123500 FGFR2 2263 HP:0000006 Autosomal dominant inheritance OMIM:123500 FGFR2 2263 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:118600 ANKH 56172 HP:0002758 Osteoarthritis OMIM:118600 ANKH 56172 HP:0003040 Arthropathy OMIM:118600 ANKH 56172 HP:0005017 Polyarticular chondrocalcinosis OMIM:118600 ANKH 56172 HP:0000006 Autosomal dominant inheritance OMIM:118600 ANKH 56172 HP:0003581 Adult onset OMIM:614808 PFN1 5216 HP:0003202 Skeletal muscle atrophy OMIM:614808 PFN1 5216 HP:0001260 Dysarthria OMIM:614808 PFN1 5216 HP:0001257 Spasticity OMIM:614808 PFN1 5216 HP:0001324 Muscle weakness OMIM:614808 PFN1 5216 HP:0000006 Autosomal dominant inheritance OMIM:614808 PFN1 5216 HP:0002380 Fasciculations OMIM:614808 PFN1 5216 HP:0002015 Dysphagia OMIM:614808 PFN1 5216 HP:0007354 Amyotrophic lateral sclerosis OMIM:615025 DHTKD1 55526 HP:0003202 Skeletal muscle atrophy OMIM:615025 DHTKD1 55526 HP:0002355 Difficulty walking OMIM:613853 CFC1 55997 HP:0001669 Transposition of the great arteries OMIM:613853 CFC1 55997 HP:0000006 Autosomal dominant inheritance OMIM:613853 CFC1 55997 HP:0001719 Double outlet right ventricle OMIM:613853 CFC1 55997 HP:0002021 Pyloric stenosis OMIM:308800 SAT1 6303 HP:0002164 Nail dysplasia OMIM:308800 SAT1 6303 HP:0001425 Heterogeneous OMIM:308800 SAT1 6303 HP:0007502 Follicular hyperkeratosis OMIM:308800 SAT1 6303 HP:0004552 Scarring alopecia of scalp OMIM:308800 SAT1 6303 HP:0000491 Keratitis OMIM:308800 SAT1 6303 HP:0000613 Photophobia OMIM:308800 SAT1 6303 HP:0001131 Corneal dystrophy OMIM:308800 SAT1 6303 HP:0000653 Sparse eyelashes OMIM:308800 SAT1 6303 HP:0000498 Blepharitis OMIM:308800 SAT1 6303 HP:0000982 Palmoplantar keratoderma OMIM:308800 SAT1 6303 HP:0001419 X-linked recessive inheritance OMIM:308800 SAT1 6303 HP:0000656 Ectropion OMIM:308800 SAT1 6303 HP:0000535 Sparse eyebrow OMIM:308800 SAT1 6303 HP:0008391 Dystrophic fingernails OMIM:308800 SAT1 6303 HP:0001041 Facial erythema OMIM:308800 SAT1 6303 HP:0030054 Perifollicular fibrosis OMIM:308800 SAT1 6303 HP:0000509 Conjunctivitis OMIM:308800 SAT1 6303 HP:0000958 Dry skin OMIM:308800 MBTPS2 51360 HP:0002164 Nail dysplasia OMIM:308800 MBTPS2 51360 HP:0001425 Heterogeneous OMIM:308800 MBTPS2 51360 HP:0007502 Follicular hyperkeratosis OMIM:308800 MBTPS2 51360 HP:0004552 Scarring alopecia of scalp OMIM:308800 MBTPS2 51360 HP:0000491 Keratitis OMIM:308800 MBTPS2 51360 HP:0000613 Photophobia OMIM:308800 MBTPS2 51360 HP:0001131 Corneal dystrophy OMIM:308800 MBTPS2 51360 HP:0000653 Sparse eyelashes OMIM:308800 MBTPS2 51360 HP:0000498 Blepharitis OMIM:308800 MBTPS2 51360 HP:0000982 Palmoplantar keratoderma OMIM:308800 MBTPS2 51360 HP:0001419 X-linked recessive inheritance OMIM:308800 MBTPS2 51360 HP:0000656 Ectropion OMIM:308800 MBTPS2 51360 HP:0000535 Sparse eyebrow OMIM:308800 MBTPS2 51360 HP:0008391 Dystrophic fingernails OMIM:308800 MBTPS2 51360 HP:0001041 Facial erythema OMIM:308800 MBTPS2 51360 HP:0030054 Perifollicular fibrosis OMIM:308800 MBTPS2 51360 HP:0000509 Conjunctivitis OMIM:308800 MBTPS2 51360 HP:0000958 Dry skin OMIM:614749 PIGO 84720 HP:0000637 Long palpebral fissure OMIM:614749 PIGO 84720 HP:0003577 Congenital onset OMIM:614749 PIGO 84720 HP:0002025 Anal stenosis OMIM:614749 PIGO 84720 HP:0000007 Autosomal recessive inheritance OMIM:614749 PIGO 84720 HP:0000316 Hypertelorism OMIM:614749 PIGO 84720 HP:0000252 Microcephaly OMIM:614749 PIGO 84720 HP:0001250 Seizures OMIM:614749 PIGO 84720 HP:0001252 Muscular hypotonia OMIM:614749 PIGO 84720 HP:0001631 Defect in the atrial septum OMIM:614749 PIGO 84720 HP:0002023 Anal atresia OMIM:614749 PIGO 84720 HP:0001249 Intellectual disability OMIM:614749 PIGO 84720 HP:0010055 Broad hallux OMIM:614749 PIGO 84720 HP:0010804 Tented upper lip vermilion OMIM:614749 PIGO 84720 HP:0000455 Broad nasal tip OMIM:614749 PIGO 84720 HP:0000750 Delayed speech and language development OMIM:614749 PIGO 84720 HP:0000076 Vesicoureteral reflux OMIM:614749 PIGO 84720 HP:0001357 Plagiocephaly OMIM:614749 PIGO 84720 HP:0003196 Short nose OMIM:614749 PIGO 84720 HP:0003155 Elevated alkaline phosphatase OMIM:614749 PIGO 84720 HP:0002119 Ventriculomegaly OMIM:614749 PIGO 84720 HP:0000431 Wide nasal bridge OMIM:614749 PIGO 84720 HP:0001510 Growth delay OMIM:204500 TPP1 1200 HP:0001250 Seizures OMIM:204500 TPP1 1200 HP:0000007 Autosomal recessive inheritance OMIM:204500 TPP1 1200 HP:0000550 Abolished electroretinogram (ERG) OMIM:204500 TPP1 1200 HP:0003205 Curvilinear intracellular accumulation of autofluorescent lipopigment storage material OMIM:204500 TPP1 1200 HP:0000546 Retinal degeneration OMIM:204500 TPP1 1200 HP:0000529 Progressive visual loss OMIM:204500 TPP1 1200 HP:0002059 Cerebral atrophy OMIM:204500 TPP1 1200 HP:0002074 Increased neuronal autofluorescent lipopigment OMIM:204500 TPP1 1200 HP:0002376 Developmental regression OMIM:204500 TPP1 1200 HP:0000750 Delayed speech and language development OMIM:204500 TPP1 1200 HP:0001251 Ataxia OMIM:204500 TPP1 1200 HP:0001311 Abnormal nervous system electrophysiology OMIM:204500 TPP1 1200 HP:0003463 Increased extraneuronal autofluorescent lipopigment OMIM:204500 TPP1 1200 HP:0001336 Myoclonus ORPHANET:77258 TRPS1 7227 HP:0003272 Abnormality of the hip bone ORPHANET:77258 TRPS1 7227 HP:0000768 Pectus carinatum ORPHANET:77258 TRPS1 7227 HP:0000343 Long philtrum ORPHANET:77258 TRPS1 7227 HP:0000325 Triangular face ORPHANET:77258 TRPS1 7227 HP:0000233 Thin vermilion border ORPHANET:77258 TRPS1 7227 HP:0002007 Frontal bossing ORPHANET:77258 TRPS1 7227 HP:0011069 Increased number of teeth ORPHANET:77258 TRPS1 7227 HP:0004209 Clinodactyly of the 5th finger ORPHANET:77258 TRPS1 7227 HP:0002650 Scoliosis ORPHANET:77258 TRPS1 7227 HP:0000400 Macrotia ORPHANET:77258 TRPS1 7227 HP:0010579 Cone-shaped epiphysis ORPHANET:77258 TRPS1 7227 HP:0000174 Abnormality of the palate ORPHANET:77258 TRPS1 7227 HP:0001597 Abnormality of the nail ORPHANET:77258 TRPS1 7227 HP:0009882 Short distal phalanx of finger ORPHANET:77258 TRPS1 7227 HP:0001252 Muscular hypotonia ORPHANET:77258 TRPS1 7227 HP:0001156 Brachydactyly syndrome ORPHANET:77258 TRPS1 7227 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:77258 TRPS1 7227 HP:0011362 Abnormal hair quantity ORPHANET:77258 TRPS1 7227 HP:0004322 Short stature ORPHANET:77258 TRPS1 7227 HP:0003307 Hyperlordosis ORPHANET:77258 TRPS1 7227 HP:0100490 Camptodactyly of finger ORPHANET:77258 TRPS1 7227 HP:0005105 Abnormal nasal morphology ORPHANET:77258 TRPS1 7227 HP:0000347 Micrognathia OMIM:615809 AMPD2 271 HP:0001257 Spasticity OMIM:615809 AMPD2 271 HP:0100704 Cortical visual impairment OMIM:615809 AMPD2 271 HP:0001263 Global developmental delay OMIM:615809 AMPD2 271 HP:0008936 Muscular hypotonia of the trunk OMIM:615809 AMPD2 271 HP:0002120 Cerebral cortical atrophy OMIM:615809 AMPD2 271 HP:0002079 Hypoplasia of the corpus callosum OMIM:615809 AMPD2 271 HP:0000252 Microcephaly OMIM:615809 AMPD2 271 HP:0002169 Clonus OMIM:615809 AMPD2 271 HP:0000648 Optic atrophy OMIM:615809 AMPD2 271 HP:0002119 Ventriculomegaly OMIM:615809 AMPD2 271 HP:0001250 Seizures OMIM:609579 FGFR2 2263 HP:0001841 Preaxial foot polydactyly OMIM:609579 FGFR2 2263 HP:0000243 Trigonocephaly OMIM:609579 FGFR2 2263 HP:0000348 High forehead OMIM:609579 FGFR2 2263 HP:0000689 Dental malocclusion OMIM:609579 FGFR2 2263 HP:0000272 Malar flattening OMIM:609579 FGFR2 2263 HP:0000268 Dolichocephaly OMIM:609579 FGFR2 2263 HP:0002119 Ventriculomegaly OMIM:609579 FGFR2 2263 HP:0000174 Abnormality of the palate OMIM:609579 FGFR2 2263 HP:0001770 Toe syndactyly OMIM:609579 FGFR2 2263 HP:0000316 Hypertelorism OMIM:609579 FGFR2 2263 HP:0000582 Upslanted palpebral fissure OMIM:609579 FGFR2 2263 HP:0001249 Intellectual disability OMIM:609579 FGFR2 2263 HP:0000303 Mandibular prognathia OMIM:609579 FGFR2 2263 HP:0100543 Cognitive impairment OMIM:609579 FGFR2 2263 HP:0000256 Macrocephaly OMIM:611762 NLRP12 91662 HP:0000407 Sensorineural hearing impairment OMIM:611762 NLRP12 91662 HP:0011107 Recurrent aphthous stomatitis OMIM:611762 NLRP12 91662 HP:0011227 Elevated C-reactive protein level OMIM:611762 NLRP12 91662 HP:0001025 Urticaria OMIM:611762 NLRP12 91662 HP:0002829 Arthralgia OMIM:611762 NLRP12 91662 HP:0001954 Episodic fever OMIM:611762 NLRP12 91662 HP:0002315 Headache OMIM:611762 NLRP12 91662 HP:0002027 Abdominal pain OMIM:611762 NLRP12 91662 HP:0000006 Autosomal dominant inheritance OMIM:611762 NLRP12 91662 HP:0003326 Myalgia OMIM:612692 CD79B 974 HP:0000403 Recurrent otitis media OMIM:612692 CD79B 974 HP:0000007 Autosomal recessive inheritance OMIM:612692 CD79B 974 HP:0011109 Chronic sinusitis OMIM:612692 CD79B 974 HP:0002837 Recurrent bronchitis OMIM:612692 CD79B 974 HP:0002718 Recurrent bacterial infections OMIM:612692 CD79B 974 HP:0004432 Agammaglobulinemia OMIM:612692 CD79B 974 HP:0000509 Conjunctivitis OMIM:612692 CD79B 974 HP:0006532 Recurrent pneumonia OMIM:612692 CD79B 974 HP:0002014 Diarrhea OMIM:612692 CD79B 974 HP:0003593 Infantile onset OMIM:263650 RIPK4 54101 HP:0000347 Micrognathia OMIM:263650 RIPK4 54101 HP:0001883 Talipes OMIM:263650 RIPK4 54101 HP:0008050 Abnormality of the palpebral fissures OMIM:263650 RIPK4 54101 HP:0008678 Renal hypoplasia/aplasia OMIM:263650 RIPK4 54101 HP:0000160 Narrow mouth OMIM:263650 RIPK4 54101 HP:0002564 Malformation of the heart and great vessels OMIM:263650 RIPK4 54101 HP:0007759 Opacification of the corneal stroma OMIM:263650 RIPK4 54101 HP:0000078 Abnormality of the genital system OMIM:263650 RIPK4 54101 HP:0100543 Cognitive impairment OMIM:263650 RIPK4 54101 HP:0000316 Hypertelorism OMIM:263650 RIPK4 54101 HP:0001798 Anonychia OMIM:263650 RIPK4 54101 HP:0000050 Hypoplastic male external genitalia OMIM:263650 RIPK4 54101 HP:0000007 Autosomal recessive inheritance OMIM:263650 RIPK4 54101 HP:0001770 Toe syndactyly OMIM:263650 RIPK4 54101 HP:0000062 Ambiguous genitalia OMIM:263650 RIPK4 54101 HP:0000211 Trismus OMIM:263650 RIPK4 54101 HP:0002223 Absent eyebrow OMIM:263650 RIPK4 54101 HP:0003196 Short nose OMIM:263650 RIPK4 54101 HP:0000161 Median cleft lip OMIM:263650 RIPK4 54101 HP:0009755 Ankyloblepharon OMIM:263650 RIPK4 54101 HP:0000430 Underdeveloped nasal alae OMIM:263650 RIPK4 54101 HP:0001511 Intrauterine growth retardation OMIM:263650 RIPK4 54101 HP:0000625 Cleft eyelid OMIM:263650 RIPK4 54101 HP:0000378 Cupped ear OMIM:263650 RIPK4 54101 HP:0006610 Wide intermamillary distance OMIM:263650 RIPK4 54101 HP:0000369 Low-set ears OMIM:263650 RIPK4 54101 HP:0001792 Small nail OMIM:263650 RIPK4 54101 HP:0002025 Anal stenosis OMIM:263650 RIPK4 54101 HP:0009777 Absent thumb OMIM:263650 RIPK4 54101 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:263650 RIPK4 54101 HP:0000204 Cleft upper lip OMIM:263650 RIPK4 54101 HP:0000252 Microcephaly OMIM:263650 RIPK4 54101 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:263650 RIPK4 54101 HP:0001800 Hypoplastic toenails OMIM:263650 RIPK4 54101 HP:0001159 Syndactyly OMIM:263650 RIPK4 54101 HP:0010185 Aplasia/Hypoplasia of the distal phalanges of the toes OMIM:263650 RIPK4 54101 HP:0000561 Absent eyelashes OMIM:263650 RIPK4 54101 HP:0000175 Cleft palate OMIM:263650 RIPK4 54101 HP:0000499 Abnormality of the eyelashes OMIM:263650 RIPK4 54101 HP:0002006 Facial cleft OMIM:263650 RIPK4 54101 HP:0000882 Hypoplastic scapulae OMIM:263650 RIPK4 54101 HP:0006101 Finger syndactyly OMIM:263650 RIPK4 54101 HP:0007418 Alopecia totalis OMIM:263650 RIPK4 54101 HP:0000568 Microphthalmos OMIM:263650 RIPK4 54101 HP:0011362 Abnormal hair quantity OMIM:263650 RIPK4 54101 HP:0000059 Hypoplastic labia majora OMIM:263650 RIPK4 54101 HP:0008689 Bilateral cryptorchidism OMIM:263650 RIPK4 54101 HP:0009803 Short phalanx of finger OMIM:263650 RIPK4 54101 HP:0009756 Popliteal pterygium OMIM:263650 RIPK4 54101 HP:0000327 Hypoplasia of the maxilla OMIM:263650 RIPK4 54101 HP:0100240 Synostosis of joints OMIM:175700 GLI3 2737 HP:0000243 Trigonocephaly OMIM:175700 GLI3 2737 HP:0100543 Cognitive impairment OMIM:175700 GLI3 2737 HP:0001177 Preaxial hand polydactyly OMIM:175700 GLI3 2737 HP:0001162 Postaxial hand polydactyly OMIM:175700 GLI3 2737 HP:0000006 Autosomal dominant inheritance OMIM:175700 GLI3 2737 HP:0000431 Wide nasal bridge OMIM:175700 GLI3 2737 HP:0001363 Craniosynostosis OMIM:175700 GLI3 2737 HP:0006101 Finger syndactyly OMIM:175700 GLI3 2737 HP:0011304 Broad thumb OMIM:175700 GLI3 2737 HP:0000348 High forehead OMIM:175700 GLI3 2737 HP:0000023 Inguinal hernia OMIM:175700 GLI3 2737 HP:0001250 Seizures OMIM:175700 GLI3 2737 HP:0002007 Frontal bossing OMIM:175700 GLI3 2737 HP:0000494 Downslanted palpebral fissures OMIM:175700 GLI3 2737 HP:0001841 Preaxial foot polydactyly OMIM:175700 GLI3 2737 HP:0001537 Umbilical hernia OMIM:175700 GLI3 2737 HP:0000506 Telecanthus OMIM:175700 GLI3 2737 HP:0005616 Accelerated skeletal maturation OMIM:175700 GLI3 2737 HP:0003828 Variable expressivity OMIM:175700 GLI3 2737 HP:0000256 Macrocephaly OMIM:175700 GLI3 2737 HP:0001459 1-3 toe syndactyly OMIM:175700 GLI3 2737 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:175700 GLI3 2737 HP:0000316 Hypertelorism OMIM:175700 GLI3 2737 HP:0001007 Hirsutism OMIM:175700 GLI3 2737 HP:0001256 Intellectual disability, mild OMIM:175700 GLI3 2737 HP:0001830 Postaxial foot polydactyly OMIM:175700 GLI3 2737 HP:0001274 Agenesis of corpus callosum OMIM:175700 GLI3 2737 HP:0010059 Broad hallux phalanx OMIM:175700 GLI3 2737 HP:0001836 Camptodactyly of toe OMIM:175700 GLI3 2737 HP:0011330 Metopic synostosis OMIM:175700 GLI3 2737 HP:0000028 Cryptorchidism OMIM:175700 GLI3 2737 HP:0000270 Delayed cranial suture closure OMIM:175700 GLI3 2737 HP:0000238 Hydrocephalus OMIM:175700 GLI3 2737 HP:0000776 Congenital diaphragmatic hernia OMIM:175700 GLI3 2737 HP:0004303 Abnormality of muscle fibers OMIM:175700 GLI3 2737 HP:0006097 3-4 finger syndactyly OMIM:175700 GLI3 2737 HP:0010055 Broad hallux OMIM:175700 GLI3 2737 HP:0009473 Joint contracture of the hand OMIM:175700 GLI3 2737 HP:0001627 Abnormality of cardiac morphology OMIM:175700 GLI3 2737 HP:0003074 Hyperglycemia OMIM:175700 GLI3 2737 HP:0000268 Dolichocephaly OMIM:175700 GLI3 2737 HP:0001770 Toe syndactyly OMIM:175700 GLI3 2737 HP:0000047 Hypospadias OMIM:175700 GLI3 2737 HP:0000366 Abnormality of the nose OMIM:245349 PDHX 8050 HP:0001250 Seizures OMIM:245349 PDHX 8050 HP:0001332 Dystonia OMIM:245349 PDHX 8050 HP:0000252 Microcephaly OMIM:245349 PDHX 8050 HP:0000496 Abnormality of eye movement OMIM:245349 PDHX 8050 HP:0000243 Trigonocephaly OMIM:245349 PDHX 8050 HP:0000007 Autosomal recessive inheritance OMIM:245349 PDHX 8050 HP:0007015 Poor gross motor coordination OMIM:245349 PDHX 8050 HP:0001251 Ataxia OMIM:245349 PDHX 8050 HP:0001338 Partial agenesis of the corpus callosum OMIM:245349 PDHX 8050 HP:0001258 Spastic paraplegia OMIM:245349 PDHX 8050 HP:0001263 Global developmental delay OMIM:245349 PDHX 8050 HP:0003128 Lactic acidosis OMIM:245349 PDHX 8050 HP:0002317 Unsteady gait OMIM:245349 PDHX 8050 HP:0000648 Optic atrophy OMIM:245349 PDHX 8050 HP:0001942 Metabolic acidosis OMIM:245349 PDHX 8050 HP:0003348 Hyperalaninemia OMIM:245349 PDHX 8050 HP:0003577 Congenital onset OMIM:245349 PDHX 8050 HP:0000767 Pectus excavatum OMIM:245349 PDHX 8050 HP:0002416 Subependymal cysts OMIM:245349 PDHX 8050 HP:0002928 Decreased activity of the pyruvate dehydrogenase (PDH) complex OMIM:245349 PDHX 8050 HP:0003828 Variable expressivity OMIM:245349 PDHX 8050 HP:0000218 High palate OMIM:245349 PDHX 8050 HP:0000286 Epicanthus OMIM:245349 PDHX 8050 HP:0000316 Hypertelorism OMIM:245349 PDHX 8050 HP:0001319 Neonatal hypotonia OMIM:245349 PDHX 8050 HP:0007010 Poor fine motor coordination OMIM:245349 PDHX 8050 HP:0003542 Increased serum pyruvate OMIM:245349 PDHX 8050 HP:0002510 Spastic tetraplegia OMIM:245349 PDHX 8050 HP:0001249 Intellectual disability OMIM:207750 APOC2 344 HP:0001733 Pancreatitis OMIM:207750 APOC2 344 HP:0002240 Hepatomegaly OMIM:207750 APOC2 344 HP:0001013 Eruptive xanthomas OMIM:207750 APOC2 344 HP:0002155 Hypertriglyceridemia OMIM:207750 APOC2 344 HP:0000660 Lipemia retinalis OMIM:207750 APOC2 344 HP:0001744 Splenomegaly OMIM:207750 APOC2 344 HP:0000007 Autosomal recessive inheritance OMIM:613819 TTC21B 79809 HP:0000546 Retinal degeneration OMIM:613819 TTC21B 79809 HP:0000773 Short ribs OMIM:613819 TTC21B 79809 HP:0004322 Short stature OMIM:613819 TTC21B 79809 HP:0000774 Narrow chest OMIM:613819 TTC21B 79809 HP:0003026 Short long bone OMIM:613819 TTC21B 79809 HP:0000007 Autosomal recessive inheritance OMIM:248360 MLYCD 23417 HP:0001639 Hypertrophic cardiomyopathy OMIM:248360 MLYCD 23417 HP:0000007 Autosomal recessive inheritance OMIM:248360 MLYCD 23417 HP:0100543 Cognitive impairment OMIM:248360 MLYCD 23417 HP:0001946 Ketosis OMIM:248360 MLYCD 23417 HP:0001263 Global developmental delay OMIM:248360 MLYCD 23417 HP:0001942 Metabolic acidosis OMIM:248360 MLYCD 23417 HP:0001252 Muscular hypotonia OMIM:248360 MLYCD 23417 HP:0003128 Lactic acidosis OMIM:248360 MLYCD 23417 HP:0002014 Diarrhea OMIM:248360 MLYCD 23417 HP:0001943 Hypoglycemia OMIM:248360 MLYCD 23417 HP:0002013 Vomiting OMIM:248360 MLYCD 23417 HP:0002019 Constipation OMIM:248360 MLYCD 23417 HP:0012450 Chronic constipation OMIM:248360 MLYCD 23417 HP:0001250 Seizures OMIM:248360 MLYCD 23417 HP:0002027 Abdominal pain OMIM:248360 MLYCD 23417 HP:0001302 Pachygyria OMIM:248360 MLYCD 23417 HP:0004322 Short stature OMIM:248360 MLYCD 23417 HP:0001626 Abnormality of the cardiovascular system OMIM:161800 ACTA1 58 HP:0003306 Spinal rigidity OMIM:161800 ACTA1 58 HP:0001284 Areflexia OMIM:161800 ACTA1 58 HP:0003324 Generalized muscle weakness OMIM:161800 ACTA1 58 HP:0003812 Phenotypic variability OMIM:161800 ACTA1 58 HP:0001319 Neonatal hypotonia OMIM:161800 ACTA1 58 HP:0000006 Autosomal dominant inheritance OMIM:161800 ACTA1 58 HP:0001644 Dilated cardiomyopathy OMIM:161800 ACTA1 58 HP:0002515 Waddling gait OMIM:161800 ACTA1 58 HP:0001761 Pes cavus OMIM:161800 ACTA1 58 HP:0002063 Rigidity OMIM:161800 ACTA1 58 HP:0001347 Hyperreflexia OMIM:161800 ACTA1 58 HP:0001533 Slender build OMIM:161800 ACTA1 58 HP:0001276 Hypertonia OMIM:161800 ACTA1 58 HP:0003722 Neck flexor weakness OMIM:161800 ACTA1 58 HP:0003307 Hyperlordosis OMIM:161800 ACTA1 58 HP:0001283 Bulbar palsy OMIM:161800 ACTA1 58 HP:0008872 Feeding difficulties in infancy OMIM:161800 ACTA1 58 HP:0001270 Motor delay OMIM:161800 ACTA1 58 HP:0002015 Dysphagia OMIM:161800 ACTA1 58 HP:0003445 EMG: neuropathic changes OMIM:161800 ACTA1 58 HP:0002359 Frequent falls OMIM:161800 ACTA1 58 HP:0003458 EMG: myopathic abnormalities OMIM:161800 ACTA1 58 HP:0003798 Nemaline bodies OMIM:161800 ACTA1 58 HP:0003803 Type 1 muscle fiber predominance OMIM:161800 ACTA1 58 HP:0003701 Proximal muscle weakness OMIM:161800 ACTA1 58 HP:0010628 Facial palsy OMIM:161800 ACTA1 58 HP:0001558 Decreased fetal movement OMIM:161800 ACTA1 58 HP:0000218 High palate OMIM:161800 ACTA1 58 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:161800 ACTA1 58 HP:0002650 Scoliosis OMIM:161800 ACTA1 58 HP:0008180 Mildly elevated creatine phosphokinase OMIM:161800 ACTA1 58 HP:0002804 Arthrogryposis multiplex congenita OMIM:161800 ACTA1 58 HP:0000278 Retrognathia OMIM:161800 ACTA1 58 HP:0002058 Myopathic facies OMIM:161800 ACTA1 58 HP:0001265 Hyporeflexia OMIM:161800 ACTA1 58 HP:0001561 Polyhydramnios OMIM:161800 ACTA1 58 HP:0001425 Heterogeneous OMIM:161800 ACTA1 58 HP:0003810 Late-onset distal muscle weakness OMIM:161800 ACTA1 58 HP:0000298 Mask-like facies OMIM:161800 ACTA1 58 HP:0003690 Limb muscle weakness ORPHANET:2254 EXOSC8 11340 HP:0000252 Microcephaly ORPHANET:2254 EXOSC8 11340 HP:0002120 Cerebral cortical atrophy ORPHANET:2254 EXOSC8 11340 HP:0001276 Hypertonia ORPHANET:2254 EXOSC8 11340 HP:0004097 Deviation of finger ORPHANET:2254 EXOSC8 11340 HP:0001250 Seizures ORPHANET:2254 EXOSC8 11340 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2254 EXOSC8 11340 HP:0001376 Limitation of joint mobility ORPHANET:2254 RARS2 57038 HP:0000252 Microcephaly ORPHANET:2254 RARS2 57038 HP:0002120 Cerebral cortical atrophy ORPHANET:2254 RARS2 57038 HP:0001276 Hypertonia ORPHANET:2254 RARS2 57038 HP:0004097 Deviation of finger ORPHANET:2254 RARS2 57038 HP:0001250 Seizures ORPHANET:2254 RARS2 57038 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2254 RARS2 57038 HP:0001376 Limitation of joint mobility ORPHANET:2254 EXOSC3 51010 HP:0000252 Microcephaly ORPHANET:2254 EXOSC3 51010 HP:0002120 Cerebral cortical atrophy ORPHANET:2254 EXOSC3 51010 HP:0001276 Hypertonia ORPHANET:2254 EXOSC3 51010 HP:0004097 Deviation of finger ORPHANET:2254 EXOSC3 51010 HP:0001250 Seizures ORPHANET:2254 EXOSC3 51010 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2254 EXOSC3 51010 HP:0001376 Limitation of joint mobility ORPHANET:2254 VRK1 7443 HP:0000252 Microcephaly ORPHANET:2254 VRK1 7443 HP:0002120 Cerebral cortical atrophy ORPHANET:2254 VRK1 7443 HP:0001276 Hypertonia ORPHANET:2254 VRK1 7443 HP:0004097 Deviation of finger ORPHANET:2254 VRK1 7443 HP:0001250 Seizures ORPHANET:2254 VRK1 7443 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2254 VRK1 7443 HP:0001376 Limitation of joint mobility ORPHANET:2254 TSEN54 283989 HP:0000252 Microcephaly ORPHANET:2254 TSEN54 283989 HP:0002120 Cerebral cortical atrophy ORPHANET:2254 TSEN54 283989 HP:0001276 Hypertonia ORPHANET:2254 TSEN54 283989 HP:0004097 Deviation of finger ORPHANET:2254 TSEN54 283989 HP:0001250 Seizures ORPHANET:2254 TSEN54 283989 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2254 TSEN54 283989 HP:0001376 Limitation of joint mobility OMIM:613824 NEK8 284086 HP:0003774 Stage 5 chronic kidney disease OMIM:613824 NEK8 284086 HP:0000090 Nephronophthisis OMIM:613824 NEK8 284086 HP:0004734 Renal cortical microcysts OMIM:613824 NEK8 284086 HP:0000007 Autosomal recessive inheritance OMIM:116600 EPHA2 1969 HP:0000545 Myopia OMIM:116600 EPHA2 1969 HP:0001115 Posterior polar cataract OMIM:116600 EPHA2 1969 HP:0000006 Autosomal dominant inheritance OMIM:116600 EPHA2 1969 HP:0010700 Total cataract OMIM:116600 EPHA2 1969 HP:0001139 Choroideremia OMIM:116600 EPHA2 1969 HP:0000519 Congenital cataract OMIM:611451 LRTOMT 220074 HP:0000365 Hearing impairment OMIM:611451 LRTOMT 220074 HP:0000007 Autosomal recessive inheritance OMIM:612794 ACTC1 70 HP:0001631 Defect in the atrial septum OMIM:614866 PEX2 5828 HP:0001250 Seizures OMIM:614866 PEX2 5828 HP:0000107 Renal cyst OMIM:614866 PEX2 5828 HP:0008935 Generalized neonatal hypotonia OMIM:614866 PEX2 5828 HP:0008872 Feeding difficulties in infancy OMIM:614866 PEX2 5828 HP:0001433 Hepatosplenomegaly OMIM:614866 PEX2 5828 HP:0010655 Epiphyseal stippling OMIM:614866 PEX2 5828 HP:0000007 Autosomal recessive inheritance OMIM:614866 PEX2 5828 HP:0001263 Global developmental delay OMIM:604116 ABCA4 24 HP:0000572 Visual loss OMIM:604116 ABCA4 24 HP:0000548 Cone-rod dystrophy OMIM:604116 ABCA4 24 HP:0000551 Abnormality of color vision OMIM:604116 ABCA4 24 HP:0000603 Central scotoma OMIM:210720 PCNT 5116 HP:0000882 Hypoplastic scapulae OMIM:210720 PCNT 5116 HP:0004209 Clinodactyly of the 5th finger OMIM:210720 PCNT 5116 HP:0001956 Truncal obesity OMIM:210720 PCNT 5116 HP:0001249 Intellectual disability OMIM:210720 PCNT 5116 HP:0009882 Short distal phalanx of finger OMIM:210720 PCNT 5116 HP:0003272 Abnormality of the hip bone OMIM:210720 PCNT 5116 HP:0002119 Ventriculomegaly OMIM:210720 PCNT 5116 HP:0000826 Precocious puberty OMIM:210720 PCNT 5116 HP:0000774 Narrow chest OMIM:210720 PCNT 5116 HP:0100263 Distal symphalangism OMIM:210720 PCNT 5116 HP:0009906 Aplasia/Hypoplasia of the earlobes OMIM:210720 PCNT 5116 HP:0002690 Large sella turcica OMIM:210720 PCNT 5116 HP:0002205 Recurrent respiratory infections OMIM:210720 PCNT 5116 HP:0007018 Attention deficit hyperactivity disorder OMIM:210720 PCNT 5116 HP:0006297 Hypoplasia of dental enamel OMIM:210720 PCNT 5116 HP:0001156 Brachydactyly syndrome OMIM:210720 PCNT 5116 HP:0001511 Intrauterine growth retardation OMIM:210720 PCNT 5116 HP:0003275 Narrow pelvis bone OMIM:210720 PCNT 5116 HP:0002750 Delayed skeletal maturation OMIM:210720 PCNT 5116 HP:0003031 Ulnar bowing OMIM:210720 PCNT 5116 HP:0001608 Abnormality of the voice OMIM:210720 PCNT 5116 HP:0008897 Postnatal growth retardation OMIM:210720 PCNT 5116 HP:0001903 Anemia OMIM:210720 PCNT 5116 HP:0001263 Global developmental delay OMIM:210720 PCNT 5116 HP:0002650 Scoliosis OMIM:210720 PCNT 5116 HP:0000540 Hypermetropia OMIM:210720 PCNT 5116 HP:0009193 Pseudoepiphyses of the metacarpals OMIM:210720 PCNT 5116 HP:0002213 Fine hair OMIM:210720 PCNT 5116 HP:0000430 Underdeveloped nasal alae OMIM:210720 PCNT 5116 HP:0000368 Low-set, posteriorly rotated ears OMIM:210720 PCNT 5116 HP:0000407 Sensorineural hearing impairment OMIM:210720 PCNT 5116 HP:0000426 Prominent nasal bridge OMIM:210720 PCNT 5116 HP:0001377 Limited elbow extension OMIM:210720 PCNT 5116 HP:0000340 Sloping forehead OMIM:210720 PCNT 5116 HP:0005978 Type II diabetes mellitus OMIM:210720 PCNT 5116 HP:0005819 Short middle phalanx of finger OMIM:210720 PCNT 5116 HP:0010034 Short 1st metacarpal OMIM:210720 PCNT 5116 HP:0006461 Proximal femoral epiphysiolysis OMIM:210720 PCNT 5116 HP:0000293 Full cheeks OMIM:210720 PCNT 5116 HP:0000347 Micrognathia OMIM:210720 PCNT 5116 HP:0000431 Wide nasal bridge OMIM:210720 PCNT 5116 HP:0000448 Prominent nose OMIM:210720 PCNT 5116 HP:0000278 Retrognathia OMIM:210720 PCNT 5116 HP:0000890 Long clavicles OMIM:210720 PCNT 5116 HP:0100543 Cognitive impairment OMIM:210720 PCNT 5116 HP:0009804 Reduced number of teeth OMIM:210720 PCNT 5116 HP:0008551 Microtia OMIM:210720 PCNT 5116 HP:0000582 Upslanted palpebral fissure OMIM:210720 PCNT 5116 HP:0000047 Hypospadias OMIM:210720 PCNT 5116 HP:0000494 Downslanted palpebral fissures OMIM:210720 PCNT 5116 HP:0011834 Moyamoya phenomenon OMIM:210720 PCNT 5116 HP:0000691 Microdontia OMIM:210720 PCNT 5116 HP:0003498 Disproportionate short stature OMIM:210720 PCNT 5116 HP:0000007 Autosomal recessive inheritance OMIM:210720 PCNT 5116 HP:0000581 Blepharophimosis OMIM:210720 PCNT 5116 HP:0004944 Cerebral aneurysm OMIM:210720 PCNT 5116 HP:0000957 Cafe-au-lait spot OMIM:210720 PCNT 5116 HP:0001053 Hypopigmented skin patches OMIM:210720 PCNT 5116 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:210720 PCNT 5116 HP:0000252 Microcephaly OMIM:210720 PCNT 5116 HP:0006645 Thin clavicles OMIM:210720 PCNT 5116 HP:0003100 Slender long bone OMIM:210720 PCNT 5116 HP:0010583 Ivory epiphyses OMIM:210720 PCNT 5116 HP:0002983 Micromelia OMIM:210720 PCNT 5116 HP:0002986 Radial bowing OMIM:210720 PCNT 5116 HP:0000958 Dry skin OMIM:210720 PCNT 5116 HP:0001382 Joint hypermobility OMIM:210720 PCNT 5116 HP:0001250 Seizures OMIM:210720 PCNT 5116 HP:0003015 Flared metaphysis OMIM:210720 PCNT 5116 HP:0000944 Abnormality of the metaphyses OMIM:210720 PCNT 5116 HP:0002209 Sparse scalp hair OMIM:210720 PCNT 5116 HP:0001601 Laryngomalacia OMIM:210720 PCNT 5116 HP:0010579 Cone-shaped epiphysis OMIM:210720 PCNT 5116 HP:0002777 Tracheal stenosis OMIM:210720 PCNT 5116 HP:0006587 Straight clavicles OMIM:210720 PCNT 5116 HP:0002812 Coxa vara OMIM:210720 PCNT 5116 HP:0002637 Cerebral ischemia OMIM:210720 PCNT 5116 HP:0001643 Patent ductus arteriosus OMIM:210720 PCNT 5116 HP:0002866 Hypoplastic iliac wing OMIM:210720 PCNT 5116 HP:0000055 Abnormality of female external genitalia OMIM:210720 PCNT 5116 HP:0001631 Defect in the atrial septum OMIM:210720 PCNT 5116 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:210720 PCNT 5116 HP:0002982 Tibial bowing OMIM:210720 PCNT 5116 HP:0001620 High pitched voice ORPHANET:164736 CSNK1D 1453 HP:0002076 Migraine ORPHANET:164736 CSNK1D 1453 HP:0002045 Hypothermia ORPHANET:164736 CSNK1D 1453 HP:0002027 Abdominal pain ORPHANET:164736 CSNK1D 1453 HP:0002019 Constipation ORPHANET:164736 CSNK1D 1453 HP:0004295 Abnormality of the gastric mucosa ORPHANET:164736 CSNK1D 1453 HP:0002360 Sleep disturbance ORPHANET:164736 PER2 8864 HP:0002076 Migraine ORPHANET:164736 PER2 8864 HP:0002045 Hypothermia ORPHANET:164736 PER2 8864 HP:0002027 Abdominal pain ORPHANET:164736 PER2 8864 HP:0002019 Constipation ORPHANET:164736 PER2 8864 HP:0004295 Abnormality of the gastric mucosa ORPHANET:164736 PER2 8864 HP:0002360 Sleep disturbance OMIM:312080 PLP1 5354 HP:0003677 Slow progression OMIM:312080 PLP1 5354 HP:0002361 Psychomotor deterioration OMIM:312080 PLP1 5354 HP:0001265 Hyporeflexia OMIM:312080 PLP1 5354 HP:0001263 Global developmental delay OMIM:312080 PLP1 5354 HP:0000639 Nystagmus OMIM:312080 PLP1 5354 HP:0001266 Choreoathetosis OMIM:312080 PLP1 5354 HP:0100709 Reduction of oligodendroglia OMIM:312080 PLP1 5354 HP:0001583 Rotary nystagmus OMIM:312080 PLP1 5354 HP:0001251 Ataxia OMIM:312080 PLP1 5354 HP:0000750 Delayed speech and language development OMIM:312080 PLP1 5354 HP:0002478 Progressive spastic quadriplegia OMIM:312080 PLP1 5354 HP:0000648 Optic atrophy OMIM:312080 PLP1 5354 HP:0001419 X-linked recessive inheritance OMIM:312080 PLP1 5354 HP:0001249 Intellectual disability OMIM:312080 PLP1 5354 HP:0002168 Scanning speech OMIM:312080 PLP1 5354 HP:0004322 Short stature OMIM:312080 PLP1 5354 HP:0001250 Seizures OMIM:312080 PLP1 5354 HP:0002015 Dysphagia OMIM:312080 PLP1 5354 HP:0000252 Microcephaly OMIM:312080 PLP1 5354 HP:0007266 Cerebral dysmyelination OMIM:312080 PLP1 5354 HP:0001252 Muscular hypotonia OMIM:312080 PLP1 5354 HP:0004886 Congenital laryngeal stridor OMIM:312080 PLP1 5354 HP:0001337 Tremor OMIM:312080 PLP1 5354 HP:0003593 Infantile onset OMIM:312080 PLP1 5354 HP:0001260 Dysarthria OMIM:312080 PLP1 5354 HP:0000365 Hearing impairment OMIM:312080 PLP1 5354 HP:0001508 Failure to thrive OMIM:312080 PLP1 5354 HP:0001332 Dystonia OMIM:312080 PLP1 5354 HP:0002599 Head titubation OMIM:312080 PLP1 5354 HP:0003269 Sudanophilic leukodystrophy OMIM:312080 PLP1 5354 HP:0007256 Abnormal pyramidal signs ORPHANET:79455 KIT 3815 HP:0100495 Mastocytosis ORPHANET:79455 KIT 3815 HP:0008066 Abnormal blistering of the skin ORPHANET:79455 KIT 3815 HP:0001025 Urticaria ORPHANET:79455 KIT 3815 HP:0001072 Thickened skin ORPHANET:79455 KIT 3815 HP:0002076 Migraine ORPHANET:79455 KIT 3815 HP:0010829 Impaired temperature sensation ORPHANET:79455 KIT 3815 HP:0001034 Hypermelanotic macule ORPHANET:79455 KIT 3815 HP:0000989 Pruritus ORPHANET:79455 KIT 3815 HP:0002027 Abdominal pain OMIM:613818 DAG1 1605 HP:0006466 Ankle contracture OMIM:613818 DAG1 1605 HP:0003560 Muscular dystrophy OMIM:613818 DAG1 1605 HP:0001249 Intellectual disability OMIM:613818 DAG1 1605 HP:0001263 Global developmental delay OMIM:613818 DAG1 1605 HP:0000750 Delayed speech and language development OMIM:613818 DAG1 1605 HP:0003325 Limb-girdle muscle weakness OMIM:613818 DAG1 1605 HP:0000007 Autosomal recessive inheritance OMIM:613818 DAG1 1605 HP:0002938 Lumbar hyperlordosis OMIM:613818 DAG1 1605 HP:0003236 Elevated serum creatine phosphokinase OMIM:613818 DAG1 1605 HP:0003391 Gowers sign OMIM:300029 RPGR 6103 HP:0001417 X-linked inheritance OMIM:300029 RPGR 6103 HP:0000548 Cone-rod dystrophy OMIM:300029 RPGR 6103 HP:0000510 Retinitis pigmentosa OMIM:614116 DNMT1 1786 HP:0000006 Autosomal dominant inheritance OMIM:614116 DNMT1 1786 HP:0000407 Sensorineural hearing impairment OMIM:614116 DNMT1 1786 HP:0000763 Sensory neuropathy OMIM:614116 DNMT1 1786 HP:0000737 Irritability OMIM:614116 DNMT1 1786 HP:0002059 Cerebral atrophy OMIM:614116 DNMT1 1786 HP:0003676 Progressive disorder OMIM:614116 DNMT1 1786 HP:0000741 Apathy OMIM:614116 DNMT1 1786 HP:0002754 Osteomyelitis OMIM:614116 DNMT1 1786 HP:0002354 Memory impairment OMIM:614116 DNMT1 1786 HP:0100710 Impulsivity OMIM:614116 DNMT1 1786 HP:0000726 Dementia OMIM:614116 DNMT1 1786 HP:0001265 Hyporeflexia OMIM:614116 DNMT1 1786 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:614116 DNMT1 1786 HP:0001262 Somnolence OMIM:300301 IKBKG 8517 HP:0001004 Lymphedema OMIM:300301 IKBKG 8517 HP:0000968 Ectodermal dysplasia OMIM:300301 IKBKG 8517 HP:0002721 Immunodeficiency OMIM:300301 IKBKG 8517 HP:0002719 Recurrent infections OMIM:300301 IKBKG 8517 HP:0011002 Osteopetrosis OMIM:605309 PTEN 5728 HP:0000006 Autosomal dominant inheritance OMIM:605309 PTEN 5728 HP:0005490 Postnatal macrocephaly OMIM:605309 PTEN 5728 HP:0001513 Obesity OMIM:605309 PTEN 5728 HP:0005280 Depressed nasal bridge OMIM:605309 PTEN 5728 HP:0003196 Short nose OMIM:605309 PTEN 5728 HP:0000717 Autism OMIM:605309 PTEN 5728 HP:0000343 Long philtrum OMIM:605309 PTEN 5728 HP:0002007 Frontal bossing OMIM:605309 PTEN 5728 HP:0000337 Broad forehead OMIM:605309 PTEN 5728 HP:0001263 Global developmental delay OMIM:605309 PTEN 5728 HP:0004422 Biparietal narrowing OMIM:615599 TAF2 6873 HP:0001257 Spasticity OMIM:615599 TAF2 6873 HP:0012448 Delayed myelination OMIM:615599 TAF2 6873 HP:0001347 Hyperreflexia OMIM:615599 TAF2 6873 HP:0000007 Autosomal recessive inheritance OMIM:615599 TAF2 6873 HP:0001647 Bicuspid aortic valve OMIM:615599 TAF2 6873 HP:0001263 Global developmental delay OMIM:615599 TAF2 6873 HP:0002079 Hypoplasia of the corpus callosum OMIM:615599 TAF2 6873 HP:0000639 Nystagmus OMIM:615599 TAF2 6873 HP:0001760 Abnormality of the foot OMIM:615599 TAF2 6873 HP:0000252 Microcephaly OMIM:615599 TAF2 6873 HP:0003487 Babinski sign OMIM:615599 TAF2 6873 HP:0002465 Poor speech OMIM:615599 TAF2 6873 HP:0001249 Intellectual disability OMIM:614261 STAMBP 10617 HP:0003196 Short nose OMIM:614261 STAMBP 10617 HP:0011344 Severe global developmental delay OMIM:614261 STAMBP 10617 HP:0009882 Short distal phalanx of finger OMIM:614261 STAMBP 10617 HP:0001518 Small for gestational age OMIM:614261 STAMBP 10617 HP:0004322 Short stature OMIM:614261 STAMBP 10617 HP:0000316 Hypertelorism OMIM:614261 STAMBP 10617 HP:0010721 Abnormal hair whorl OMIM:614261 STAMBP 10617 HP:0001252 Muscular hypotonia OMIM:614261 STAMBP 10617 HP:0001655 Patent foramen ovale OMIM:614261 STAMBP 10617 HP:0030084 Clinodactyly OMIM:614261 STAMBP 10617 HP:0001667 Right ventricular hypertrophy OMIM:614261 STAMBP 10617 HP:0001792 Small nail OMIM:614261 STAMBP 10617 HP:0003577 Congenital onset OMIM:614261 STAMBP 10617 HP:0001156 Brachydactyly syndrome OMIM:614261 STAMBP 10617 HP:0002059 Cerebral atrophy OMIM:614261 STAMBP 10617 HP:0000508 Ptosis OMIM:614261 STAMBP 10617 HP:0000007 Autosomal recessive inheritance OMIM:614261 STAMBP 10617 HP:0000648 Optic atrophy OMIM:614261 STAMBP 10617 HP:0012448 Delayed myelination OMIM:614261 STAMBP 10617 HP:0000076 Vesicoureteral reflux OMIM:614261 STAMBP 10617 HP:0000369 Low-set ears OMIM:614261 STAMBP 10617 HP:0000365 Hearing impairment OMIM:614261 STAMBP 10617 HP:0001508 Failure to thrive OMIM:614261 STAMBP 10617 HP:0000175 Cleft palate OMIM:614261 STAMBP 10617 HP:0001250 Seizures OMIM:614261 STAMBP 10617 HP:0001285 Spastic tetraparesis OMIM:614261 STAMBP 10617 HP:0000445 Wide nose OMIM:614261 STAMBP 10617 HP:0000327 Hypoplasia of the maxilla OMIM:614261 STAMBP 10617 HP:0001336 Myoclonus OMIM:614261 STAMBP 10617 HP:0000340 Sloping forehead OMIM:614261 STAMBP 10617 HP:0001629 Ventricular septal defect OMIM:614261 STAMBP 10617 HP:0002079 Hypoplasia of the corpus callosum OMIM:614261 STAMBP 10617 HP:0000253 Progressive microcephaly ORPHANET:95720 FOXE1 2304 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:95720 FOXE1 2304 HP:0001392 Abnormality of the liver ORPHANET:95720 FOXE1 2304 HP:0000280 Coarse facial features ORPHANET:95720 FOXE1 2304 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:95720 FOXE1 2304 HP:0000821 Hypothyroidism ORPHANET:95720 FOXE1 2304 HP:0000157 Abnormality of the tongue ORPHANET:95720 FOXE1 2304 HP:0100543 Cognitive impairment ORPHANET:95720 FOXE1 2304 HP:0004322 Short stature ORPHANET:95720 FOXE1 2304 HP:0002019 Constipation ORPHANET:95720 FOXE1 2304 HP:0001252 Muscular hypotonia ORPHANET:95720 NKX2-1 7080 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:95720 NKX2-1 7080 HP:0001392 Abnormality of the liver ORPHANET:95720 NKX2-1 7080 HP:0000280 Coarse facial features ORPHANET:95720 NKX2-1 7080 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:95720 NKX2-1 7080 HP:0000821 Hypothyroidism ORPHANET:95720 NKX2-1 7080 HP:0000157 Abnormality of the tongue ORPHANET:95720 NKX2-1 7080 HP:0100543 Cognitive impairment ORPHANET:95720 NKX2-1 7080 HP:0004322 Short stature ORPHANET:95720 NKX2-1 7080 HP:0002019 Constipation ORPHANET:95720 NKX2-1 7080 HP:0001252 Muscular hypotonia ORPHANET:95720 TSHR 7253 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:95720 TSHR 7253 HP:0001392 Abnormality of the liver ORPHANET:95720 TSHR 7253 HP:0000280 Coarse facial features ORPHANET:95720 TSHR 7253 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:95720 TSHR 7253 HP:0000821 Hypothyroidism ORPHANET:95720 TSHR 7253 HP:0000157 Abnormality of the tongue ORPHANET:95720 TSHR 7253 HP:0100543 Cognitive impairment ORPHANET:95720 TSHR 7253 HP:0004322 Short stature ORPHANET:95720 TSHR 7253 HP:0002019 Constipation ORPHANET:95720 TSHR 7253 HP:0001252 Muscular hypotonia ORPHANET:95720 NKX2-5 1482 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:95720 NKX2-5 1482 HP:0001392 Abnormality of the liver ORPHANET:95720 NKX2-5 1482 HP:0000280 Coarse facial features ORPHANET:95720 NKX2-5 1482 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:95720 NKX2-5 1482 HP:0000821 Hypothyroidism ORPHANET:95720 NKX2-5 1482 HP:0000157 Abnormality of the tongue ORPHANET:95720 NKX2-5 1482 HP:0100543 Cognitive impairment ORPHANET:95720 NKX2-5 1482 HP:0004322 Short stature ORPHANET:95720 NKX2-5 1482 HP:0002019 Constipation ORPHANET:95720 NKX2-5 1482 HP:0001252 Muscular hypotonia ORPHANET:95720 SLC26A4 5172 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:95720 SLC26A4 5172 HP:0001392 Abnormality of the liver ORPHANET:95720 SLC26A4 5172 HP:0000280 Coarse facial features ORPHANET:95720 SLC26A4 5172 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:95720 SLC26A4 5172 HP:0000821 Hypothyroidism ORPHANET:95720 SLC26A4 5172 HP:0000157 Abnormality of the tongue ORPHANET:95720 SLC26A4 5172 HP:0100543 Cognitive impairment ORPHANET:95720 SLC26A4 5172 HP:0004322 Short stature ORPHANET:95720 SLC26A4 5172 HP:0002019 Constipation ORPHANET:95720 SLC26A4 5172 HP:0001252 Muscular hypotonia ORPHANET:95720 PAX8 7849 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:95720 PAX8 7849 HP:0001392 Abnormality of the liver ORPHANET:95720 PAX8 7849 HP:0000280 Coarse facial features ORPHANET:95720 PAX8 7849 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:95720 PAX8 7849 HP:0000821 Hypothyroidism ORPHANET:95720 PAX8 7849 HP:0000157 Abnormality of the tongue ORPHANET:95720 PAX8 7849 HP:0100543 Cognitive impairment ORPHANET:95720 PAX8 7849 HP:0004322 Short stature ORPHANET:95720 PAX8 7849 HP:0002019 Constipation ORPHANET:95720 PAX8 7849 HP:0001252 Muscular hypotonia OMIM:615889 AARS2 57505 HP:0001272 Cerebellar atrophy OMIM:615889 AARS2 57505 HP:0008209 Premature ovarian failure OMIM:615889 AARS2 57505 HP:0001260 Dysarthria OMIM:615889 AARS2 57505 HP:0001332 Dystonia OMIM:615889 AARS2 57505 HP:0001337 Tremor OMIM:615889 AARS2 57505 HP:0002180 Neurodegeneration OMIM:615889 AARS2 57505 HP:0001257 Spasticity OMIM:615889 AARS2 57505 HP:0001251 Ataxia OMIM:615889 AARS2 57505 HP:0000726 Dementia OMIM:615889 AARS2 57505 HP:0006970 Periventricular leukomalacia OMIM:615889 AARS2 57505 HP:0002186 Apraxia OMIM:615889 AARS2 57505 HP:0000639 Nystagmus OMIM:615889 AARS2 57505 HP:0006980 Progressive leukoencephalopathy OMIM:615889 AARS2 57505 HP:0002371 Loss of speech ORPHANET:231249 HBB 3043 HP:0010978 Abnormality of immune system physiology ORPHANET:231249 HBB 3043 HP:0010472 Abnormality of the heme biosynthetic pathway ORPHANET:231249 HBB 3043 HP:0001903 Anemia ORPHANET:231249 HBB 3043 HP:0011031 Abnormality of iron homeostasis OMIM:611283 ACAD8 27034 HP:0001903 Anemia OMIM:611283 ACAD8 27034 HP:0001252 Muscular hypotonia OMIM:611283 ACAD8 27034 HP:0000007 Autosomal recessive inheritance OMIM:611283 ACAD8 27034 HP:0001644 Dilated cardiomyopathy OMIM:611283 ACAD8 27034 HP:0003234 Decreased plasma carnitine OMIM:614891 IL12RB1 3594 HP:0000007 Autosomal recessive inheritance OMIM:614891 IL12RB1 3594 HP:0002721 Immunodeficiency OMIM:614891 IL12RB1 3594 HP:0011274 Recurrent mycobacterial infections OMIM:251950 PNPLA8 50640 HP:0003457 EMG abnormality OMIM:251950 PNPLA8 50640 HP:0000007 Autosomal recessive inheritance OMIM:251950 PNPLA8 50640 HP:0003542 Increased serum pyruvate OMIM:251950 PNPLA8 50640 HP:0002151 Increased serum lactate OMIM:251950 PNPLA8 50640 HP:0008504 Moderate sensorineural hearing impairment OMIM:251950 PNPLA8 50640 HP:0001252 Muscular hypotonia OMIM:251950 PNPLA8 50640 HP:0040083 Toe walking OMIM:251950 PNPLA8 50640 HP:0003198 Myopathy OMIM:251950 PNPLA8 50640 HP:0003391 Gowers sign OMIM:251950 PNPLA8 50640 HP:0003737 Mitochondrial myopathy OMIM:251950 PNPLA8 50640 HP:0001332 Dystonia OMIM:251950 PNPLA8 50640 HP:0001939 Abnormality of metabolism/homeostasis OMIM:251950 PNPLA8 50640 HP:0001257 Spasticity OMIM:251950 PNPLA8 50640 HP:0003348 Hyperalaninemia OMIM:251950 PNPLA8 50640 HP:0002384 Focal seizures with impairment of consciousness or awareness OMIM:251950 PNPLA8 50640 HP:0004322 Short stature OMIM:251950 PNPLA8 50640 HP:0001250 Seizures OMIM:251950 PNPLA8 50640 HP:0000407 Sensorineural hearing impairment OMIM:251950 PNPLA8 50640 HP:0001269 Hemiparesis OMIM:251950 PNPLA8 50640 HP:0001260 Dysarthria OMIM:251950 PNPLA8 50640 HP:0001310 Dysmetria OMIM:251950 PNPLA8 50640 HP:0002572 Episodic vomiting OMIM:251950 PNPLA8 50640 HP:0008897 Postnatal growth retardation OMIM:251950 PNPLA8 50640 HP:0003202 Skeletal muscle atrophy OMIM:251950 PNPLA8 50640 HP:0003128 Lactic acidosis OMIM:276900 MYO7A 4647 HP:0000007 Autosomal recessive inheritance OMIM:276900 MYO7A 4647 HP:0001425 Heterogeneous OMIM:276900 MYO7A 4647 HP:0001270 Motor delay OMIM:276900 MYO7A 4647 HP:0000572 Visual loss OMIM:276900 MYO7A 4647 HP:0000407 Sensorineural hearing impairment OMIM:276900 MYO7A 4647 HP:0008555 Absent vestibular function OMIM:276900 MYO7A 4647 HP:0000550 Abolished electroretinogram (ERG) OMIM:276900 MYO7A 4647 HP:0000510 Retinitis pigmentosa OMIM:164300 PABPN1 8106 HP:0003690 Limb muscle weakness OMIM:164300 PABPN1 8106 HP:0000508 Ptosis OMIM:164300 PABPN1 8106 HP:0000298 Mask-like facies OMIM:164300 PABPN1 8106 HP:0001260 Dysarthria OMIM:164300 PABPN1 8106 HP:0010628 Facial palsy OMIM:164300 PABPN1 8106 HP:0000600 Abnormality of the pharynx OMIM:164300 PABPN1 8106 HP:0000006 Autosomal dominant inheritance OMIM:164300 PABPN1 8106 HP:0000467 Neck muscle weakness OMIM:164300 PABPN1 8106 HP:0003701 Proximal muscle weakness OMIM:164300 PABPN1 8106 HP:0003202 Skeletal muscle atrophy OMIM:164300 PABPN1 8106 HP:0000597 Ophthalmoparesis OMIM:164300 PABPN1 8106 HP:0003581 Adult onset OMIM:164300 PABPN1 8106 HP:0002460 Distal muscle weakness OMIM:164300 PABPN1 8106 HP:0001288 Gait disturbance OMIM:164300 PABPN1 8106 HP:0003198 Myopathy OMIM:164300 PABPN1 8106 HP:0003676 Progressive disorder OMIM:164300 PABPN1 8106 HP:0002015 Dysphagia OMIM:164300 PABPN1 8106 HP:0007838 Progressive ptosis OMIM:243800 UBR1 197131 HP:0000486 Strabismus OMIM:243800 UBR1 197131 HP:0006349 Agenesis of permanent teeth OMIM:243800 UBR1 197131 HP:0100543 Cognitive impairment OMIM:243800 UBR1 197131 HP:0008736 Hypoplasia of penis OMIM:243800 UBR1 197131 HP:0002024 Malabsorption OMIM:243800 UBR1 197131 HP:0006334 Hypoplasia of the primary teeth OMIM:243800 UBR1 197131 HP:0000819 Diabetes mellitus OMIM:243800 UBR1 197131 HP:0001696 Situs inversus totalis OMIM:243800 UBR1 197131 HP:0001629 Ventricular septal defect OMIM:243800 UBR1 197131 HP:0003362 Increased circulating very-low-density lipoprotein cholesterol OMIM:243800 UBR1 197131 HP:0000821 Hypothyroidism OMIM:243800 UBR1 197131 HP:0000054 Micropenis OMIM:243800 UBR1 197131 HP:0000007 Autosomal recessive inheritance OMIM:243800 UBR1 197131 HP:0000430 Underdeveloped nasal alae OMIM:243800 UBR1 197131 HP:0009804 Reduced number of teeth OMIM:243800 UBR1 197131 HP:0004322 Short stature OMIM:243800 UBR1 197131 HP:0000684 Delayed eruption of teeth OMIM:243800 UBR1 197131 HP:0002901 Hypocalcemia OMIM:243800 UBR1 197131 HP:0002750 Delayed skeletal maturation OMIM:243800 UBR1 197131 HP:0000444 Convex nasal ridge OMIM:243800 UBR1 197131 HP:0001545 Anteriorly placed anus OMIM:243800 UBR1 197131 HP:0005498 Midline skin dimples over anterior/posterior fontanelles OMIM:243800 UBR1 197131 HP:0000057 Clitoromegaly OMIM:243800 UBR1 197131 HP:0007385 Aplasia cutis congenita of scalp OMIM:243800 UBR1 197131 HP:0000008 Abnormality of female internal genitalia OMIM:243800 UBR1 197131 HP:0003196 Short nose OMIM:243800 UBR1 197131 HP:0001518 Small for gestational age OMIM:243800 UBR1 197131 HP:0000028 Cryptorchidism OMIM:243800 UBR1 197131 HP:0001738 Exocrine pancreatic insufficiency OMIM:243800 UBR1 197131 HP:0001399 Hepatic failure OMIM:243800 UBR1 197131 HP:0002286 Fair hair OMIM:243800 UBR1 197131 HP:0001511 Intrauterine growth retardation OMIM:243800 UBR1 197131 HP:0000632 Lacrimation abnormality OMIM:243800 UBR1 197131 HP:0001388 Joint laxity OMIM:243800 UBR1 197131 HP:0010935 Abnormality of the upper urinary tract OMIM:243800 UBR1 197131 HP:0100627 Displacement of the external urethral meatus OMIM:243800 UBR1 197131 HP:0004209 Clinodactyly of the 5th finger OMIM:243800 UBR1 197131 HP:0001597 Abnormality of the nail OMIM:243800 UBR1 197131 HP:0001396 Cholestasis OMIM:243800 UBR1 197131 HP:0002557 Hypoplastic nipples OMIM:243800 UBR1 197131 HP:0002236 Frontal upsweep of hair OMIM:243800 UBR1 197131 HP:0001252 Muscular hypotonia OMIM:243800 UBR1 197131 HP:0000047 Hypospadias OMIM:243800 UBR1 197131 HP:0001092 Absent lacrimal punctum OMIM:243800 UBR1 197131 HP:0001153 Septate vagina OMIM:243800 UBR1 197131 HP:0005288 Abnormality of the nares OMIM:243800 UBR1 197131 HP:0003819 Death in childhood OMIM:243800 UBR1 197131 HP:0001508 Failure to thrive OMIM:243800 UBR1 197131 HP:0001671 Abnormality of the cardiac septa OMIM:243800 UBR1 197131 HP:0000954 Single transverse palmar crease OMIM:243800 UBR1 197131 HP:0001644 Dilated cardiomyopathy OMIM:243800 UBR1 197131 HP:0003075 Hypoproteinemia OMIM:243800 UBR1 197131 HP:0000691 Microdontia OMIM:243800 UBR1 197131 HP:0012050 Anasarca OMIM:243800 UBR1 197131 HP:0001596 Alopecia OMIM:243800 UBR1 197131 HP:0008716 Urethrovaginal fistula OMIM:243800 UBR1 197131 HP:0000143 Rectovaginal fistula OMIM:243800 UBR1 197131 HP:0001903 Anemia OMIM:243800 UBR1 197131 HP:0000252 Microcephaly OMIM:243800 UBR1 197131 HP:0002209 Sparse scalp hair OMIM:243800 UBR1 197131 HP:0000126 Hydronephrosis OMIM:243800 UBR1 197131 HP:0001249 Intellectual disability OMIM:243800 UBR1 197131 HP:0002253 Colonic diverticulosis OMIM:243800 UBR1 197131 HP:0100589 Urogenital fistula OMIM:243800 UBR1 197131 HP:0001362 Skull defect OMIM:243800 UBR1 197131 HP:0001631 Defect in the atrial septum OMIM:243800 UBR1 197131 HP:0000407 Sensorineural hearing impairment OMIM:243800 UBR1 197131 HP:0002023 Anal atresia OMIM:243800 UBR1 197131 HP:0000957 Cafe-au-lait spot OMIM:256520 PHGDH 26227 HP:0001655 Patent foramen ovale OMIM:256520 PHGDH 26227 HP:0002414 Spina bifida OMIM:256520 PHGDH 26227 HP:0000470 Short neck OMIM:256520 PHGDH 26227 HP:0002983 Micromelia OMIM:256520 PHGDH 26227 HP:0030084 Clinodactyly OMIM:256520 PHGDH 26227 HP:0001669 Transposition of the great arteries OMIM:256520 PHGDH 26227 HP:0000028 Cryptorchidism OMIM:256520 PHGDH 26227 HP:0009473 Joint contracture of the hand OMIM:256520 PHGDH 26227 HP:0000316 Hypertelorism OMIM:256520 PHGDH 26227 HP:0003826 Stillbirth OMIM:256520 PHGDH 26227 HP:0000104 Renal agenesis OMIM:256520 PHGDH 26227 HP:0012385 Camptodactyly OMIM:256520 PHGDH 26227 HP:0000347 Micrognathia OMIM:256520 PHGDH 26227 HP:0006266 Small placenta OMIM:256520 PHGDH 26227 HP:0000400 Macrotia OMIM:256520 PHGDH 26227 HP:0011224 Ablepharon OMIM:256520 PHGDH 26227 HP:0001558 Decreased fetal movement OMIM:256520 PHGDH 26227 HP:0001629 Ventricular septal defect OMIM:256520 PHGDH 26227 HP:0000561 Absent eyelashes OMIM:256520 PHGDH 26227 HP:0000007 Autosomal recessive inheritance OMIM:256520 PHGDH 26227 HP:0001196 Short umbilical cord OMIM:256520 PHGDH 26227 HP:0006101 Finger syndactyly OMIM:256520 PHGDH 26227 HP:0000568 Microphthalmos OMIM:256520 PHGDH 26227 HP:0001643 Patent ductus arteriosus OMIM:256520 PHGDH 26227 HP:0001059 Pterygium OMIM:256520 PHGDH 26227 HP:0001848 Calcaneovalgus deformity OMIM:256520 PHGDH 26227 HP:0000252 Microcephaly OMIM:256520 PHGDH 26227 HP:0001770 Toe syndactyly OMIM:256520 PHGDH 26227 HP:0002190 Choroid plexus cyst OMIM:256520 PHGDH 26227 HP:0001561 Polyhydramnios OMIM:256520 PHGDH 26227 HP:0000175 Cleft palate OMIM:256520 PHGDH 26227 HP:0001321 Cerebellar hypoplasia OMIM:256520 PHGDH 26227 HP:0000136 Bifid uterus OMIM:256520 PHGDH 26227 HP:0009466 Radial deviation of finger OMIM:256520 PHGDH 26227 HP:0001339 Lissencephaly OMIM:256520 PHGDH 26227 HP:0002089 Pulmonary hypoplasia OMIM:256520 PHGDH 26227 HP:0007525 Yellow subcutaneous tissue covered by thin, scaly skin OMIM:256520 PHGDH 26227 HP:0001274 Agenesis of corpus callosum OMIM:256520 PHGDH 26227 HP:0000520 Proptosis OMIM:256520 PHGDH 26227 HP:0001838 Rocker bottom foot OMIM:256520 PHGDH 26227 HP:0007430 Generalized edema OMIM:256520 PHGDH 26227 HP:0000340 Sloping forehead OMIM:256520 PHGDH 26227 HP:0000204 Cleft upper lip OMIM:256520 PHGDH 26227 HP:0001305 Dandy-Walker malformation OMIM:256520 PHGDH 26227 HP:0002324 Hydranencephaly OMIM:256520 PHGDH 26227 HP:0000518 Cataract OMIM:256520 PHGDH 26227 HP:0000179 Thick lower lip vermilion OMIM:256520 PHGDH 26227 HP:0001511 Intrauterine growth retardation OMIM:200500 LMBR1 64327 HP:0003063 Abnormality of the humerus OMIM:200500 LMBR1 64327 HP:0003982 Absent ulna OMIM:200500 LMBR1 64327 HP:0010048 Aplasia of metacarpal bones OMIM:200500 LMBR1 64327 HP:0005632 Absent forearm OMIM:200500 LMBR1 64327 HP:0010744 Absent metatarsal bone OMIM:200500 LMBR1 64327 HP:0009813 Upper limb phocomelia OMIM:200500 LMBR1 64327 HP:0003974 Absent radius OMIM:200500 LMBR1 64327 HP:0005930 Abnormality of epiphysis morphology OMIM:200500 LMBR1 64327 HP:0005792 Short humerus OMIM:200500 LMBR1 64327 HP:0000944 Abnormality of the metaphyses OMIM:200500 LMBR1 64327 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:200500 LMBR1 64327 HP:0002990 Fibular aplasia OMIM:200500 LMBR1 64327 HP:0002997 Abnormality of the ulna OMIM:200500 LMBR1 64327 HP:0004231 Carpal bone aplasia OMIM:200500 LMBR1 64327 HP:0010760 Absent toe OMIM:200500 LMBR1 64327 HP:0005736 Short tibia OMIM:200500 LMBR1 64327 HP:0009802 Aplasia of the phalanges of the hand OMIM:200500 LMBR1 64327 HP:0002992 Abnormality of the tibia OMIM:200500 LMBR1 64327 HP:0010509 Aplasia of the tarsal bones OMIM:200500 LMBR1 64327 HP:0000007 Autosomal recessive inheritance OMIM:200500 LMBR1 64327 HP:0004050 Absent hand OMIM:200500 LMBR1 64327 HP:0009820 Lower limb peromelia OMIM:262890 ANO6 196527 HP:0008354 Factor X activation deficiency OMIM:262890 ANO6 196527 HP:0000007 Autosomal recessive inheritance OMIM:262890 ANO6 196527 HP:0001892 Abnormal bleeding OMIM:614418 CPA6 57094 HP:0002373 Febrile seizures OMIM:614418 CPA6 57094 HP:0002069 Generalized tonic-clonic seizures OMIM:614418 CPA6 57094 HP:0000007 Autosomal recessive inheritance OMIM:181450 TBX3 6926 HP:0008093 Short 4th toe OMIM:181450 TBX3 6926 HP:0002023 Anal atresia OMIM:181450 TBX3 6926 HP:0002557 Hypoplastic nipples OMIM:181450 TBX3 6926 HP:0000049 Shawl scrotum OMIM:181450 TBX3 6926 HP:0006709 Aplasia/Hypoplasia of the nipples OMIM:181450 TBX3 6926 HP:0000144 Decreased fertility OMIM:181450 TBX3 6926 HP:0004397 Ectopic anus OMIM:181450 TBX3 6926 HP:0011675 Arrhythmia OMIM:181450 TBX3 6926 HP:0001163 Abnormality of the metacarpal bones OMIM:181450 TBX3 6926 HP:0000054 Micropenis OMIM:181450 TBX3 6926 HP:0000006 Autosomal dominant inheritance OMIM:181450 TBX3 6926 HP:0009751 Aplasia of the pectoralis major muscle OMIM:181450 TBX3 6926 HP:0007397 Axillary apocrine gland hypoplasia OMIM:181450 TBX3 6926 HP:0011917 Short 5th toe OMIM:181450 TBX3 6926 HP:0001513 Obesity OMIM:181450 TBX3 6926 HP:0001629 Ventricular septal defect OMIM:181450 TBX3 6926 HP:0000668 Hypodontia OMIM:181450 TBX3 6926 HP:0002021 Pyloric stenosis OMIM:181450 TBX3 6926 HP:0000768 Pectus carinatum OMIM:181450 TBX3 6926 HP:0100783 Breast aplasia OMIM:181450 TBX3 6926 HP:0001162 Postaxial hand polydactyly OMIM:181450 TBX3 6926 HP:0001607 Subglottic stenosis OMIM:181450 TBX3 6926 HP:0000912 Sprengel anomaly OMIM:181450 TBX3 6926 HP:0000966 Hypohidrosis OMIM:181450 TBX3 6926 HP:0003022 Hypoplasia of the ulna OMIM:181450 TBX3 6926 HP:0003186 Inverted nipples OMIM:181450 TBX3 6926 HP:0003063 Abnormality of the humerus OMIM:181450 TBX3 6926 HP:0000008 Abnormality of female internal genitalia OMIM:181450 TBX3 6926 HP:0000882 Hypoplastic scapulae OMIM:181450 TBX3 6926 HP:0003019 Abnormality of the wrist OMIM:181450 TBX3 6926 HP:0002215 Sparse axillary hair OMIM:181450 TBX3 6926 HP:0001800 Hypoplastic toenails OMIM:181450 TBX3 6926 HP:0002025 Anal stenosis OMIM:181450 TBX3 6926 HP:0030011 Imperforate hymen OMIM:181450 TBX3 6926 HP:0011755 Ectopic posterior pituitary OMIM:181450 TBX3 6926 HP:0000823 Delayed puberty OMIM:181450 TBX3 6926 HP:0002984 Hypoplasia of the radius OMIM:181450 TBX3 6926 HP:0001231 Abnormality of the fingernails OMIM:181450 TBX3 6926 HP:0001601 Laryngomalacia OMIM:181450 TBX3 6926 HP:0010627 Anterior pituitary hypoplasia OMIM:181450 TBX3 6926 HP:0003982 Absent ulna OMIM:181450 TBX3 6926 HP:0008678 Renal hypoplasia/aplasia OMIM:181450 TBX3 6926 HP:0003974 Absent radius OMIM:181450 TBX3 6926 HP:0000023 Inguinal hernia OMIM:181450 TBX3 6926 HP:0009804 Reduced number of teeth OMIM:181450 TBX3 6926 HP:0001171 Split hand OMIM:181450 TBX3 6926 HP:0100490 Camptodactyly of finger OMIM:181450 TBX3 6926 HP:0004299 Hernia of the abdominal wall OMIM:181450 TBX3 6926 HP:0008736 Hypoplasia of penis OMIM:181450 TBX3 6926 HP:0000028 Cryptorchidism OMIM:181450 TBX3 6926 HP:0005338 Sparse lateral eyebrow OMIM:181450 TBX3 6926 HP:0009882 Short distal phalanx of finger OMIM:181450 TBX3 6926 HP:0004322 Short stature OMIM:181450 TBX3 6926 HP:0004050 Absent hand OMIM:181450 TBX3 6926 HP:0011362 Abnormal hair quantity OMIM:181450 TBX3 6926 HP:0003187 Breast hypoplasia OMIM:181450 TBX3 6926 HP:0100589 Urogenital fistula OMIM:181450 TBX3 6926 HP:0003977 Deformed radius OMIM:181450 TBX3 6926 HP:0000894 Short clavicles OMIM:181450 TBX3 6926 HP:0005792 Short humerus OMIM:604772 RYR2 6262 HP:0001250 Seizures OMIM:604772 RYR2 6262 HP:0004756 Ventricular tachycardia OMIM:604772 RYR2 6262 HP:0001699 Sudden death OMIM:604772 RYR2 6262 HP:0005110 Atrial fibrillation OMIM:604772 RYR2 6262 HP:0001279 Syncope OMIM:604772 RYR2 6262 HP:0000006 Autosomal dominant inheritance OMIM:612718 GATM 2628 HP:0003593 Infantile onset OMIM:612718 GATM 2628 HP:0012113 Abnormality of creatine metabolism OMIM:612718 GATM 2628 HP:0000750 Delayed speech and language development OMIM:612718 GATM 2628 HP:0001508 Failure to thrive OMIM:612718 GATM 2628 HP:0000007 Autosomal recessive inheritance OMIM:612718 GATM 2628 HP:0003391 Gowers sign OMIM:612718 GATM 2628 HP:0001263 Global developmental delay OMIM:612718 GATM 2628 HP:0001249 Intellectual disability OMIM:612718 GATM 2628 HP:0001992 Organic aciduria OMIM:612718 GATM 2628 HP:0000717 Autism OMIM:615217 PIK3R5 23533 HP:0001265 Hyporeflexia OMIM:615217 PIK3R5 23533 HP:0000514 Slow saccadic eye movements OMIM:615217 PIK3R5 23533 HP:0002359 Frequent falls OMIM:615217 PIK3R5 23533 HP:0000007 Autosomal recessive inheritance OMIM:615217 PIK3R5 23533 HP:0000639 Nystagmus OMIM:615217 PIK3R5 23533 HP:0001284 Areflexia OMIM:615217 PIK3R5 23533 HP:0000657 Oculomotor apraxia OMIM:615217 PIK3R5 23533 HP:0003676 Progressive disorder OMIM:615217 PIK3R5 23533 HP:0001310 Dysmetria OMIM:615217 PIK3R5 23533 HP:0001260 Dysarthria OMIM:615217 PIK3R5 23533 HP:0001272 Cerebellar atrophy OMIM:600994 DFNA5 1687 HP:0000006 Autosomal dominant inheritance OMIM:600994 DFNA5 1687 HP:0000408 Progressive sensorineural hearing impairment OMIM:143500 UGT1A1 54658 HP:0000952 Jaundice OMIM:143500 UGT1A1 54658 HP:0000007 Autosomal recessive inheritance OMIM:143500 UGT1A1 54658 HP:0008282 Unconjugated hyperbilirubinemia OMIM:174500 LMBR1 64327 HP:0001830 Postaxial foot polydactyly OMIM:174500 LMBR1 64327 HP:0009606 Complete duplication of distal phalanx of the thumb OMIM:174500 LMBR1 64327 HP:0006101 Finger syndactyly OMIM:174500 LMBR1 64327 HP:0001177 Preaxial hand polydactyly OMIM:174500 LMBR1 64327 HP:0001770 Toe syndactyly OMIM:174500 LMBR1 64327 HP:0010066 Duplication of phalanx of hallux OMIM:174500 LMBR1 64327 HP:0009942 Duplication of thumb phalanx OMIM:174500 LMBR1 64327 HP:0000006 Autosomal dominant inheritance OMIM:174500 LMBR1 64327 HP:0001162 Postaxial hand polydactyly OMIM:174500 LMBR1 64327 HP:0001199 Triphalangeal thumb OMIM:174500 LMBR1 64327 HP:0001841 Preaxial foot polydactyly OMIM:174500 LMBR1 64327 HP:0001159 Syndactyly OMIM:174500 LMBR1 64327 HP:0001163 Abnormality of the metacarpal bones OMIM:174500 LMBR1 64327 HP:0005866 Opposable triphalangeal thumb OMIM:614727 TMEM165 55858 HP:0001508 Failure to thrive OMIM:614727 TMEM165 55858 HP:0001955 Unexplained fevers OMIM:614727 TMEM165 55858 HP:0000369 Low-set ears OMIM:614727 TMEM165 55858 HP:0011800 Midface retrusion OMIM:614727 TMEM165 55858 HP:0000358 Posteriorly rotated ears OMIM:614727 TMEM165 55858 HP:0002656 Epiphyseal dysplasia OMIM:614727 TMEM165 55858 HP:0002751 Kyphoscoliosis OMIM:614727 TMEM165 55858 HP:0100252 Diaphyseal dysplasia OMIM:614727 TMEM165 55858 HP:0003812 Phenotypic variability OMIM:614727 TMEM165 55858 HP:0002240 Hepatomegaly OMIM:614727 TMEM165 55858 HP:0001324 Muscle weakness OMIM:614727 TMEM165 55858 HP:0004322 Short stature OMIM:614727 TMEM165 55858 HP:0000007 Autosomal recessive inheritance OMIM:614727 TMEM165 55858 HP:0000705 Amelogenesis imperfecta OMIM:614727 TMEM165 55858 HP:0001252 Muscular hypotonia OMIM:614727 TMEM165 55858 HP:0001263 Global developmental delay OMIM:614727 TMEM165 55858 HP:0000272 Malar flattening OMIM:614727 TMEM165 55858 HP:0003236 Elevated serum creatine phosphokinase OMIM:614727 TMEM165 55858 HP:0005484 Postnatal microcephaly OMIM:614727 TMEM165 55858 HP:0100255 Metaphyseal dysplasia OMIM:614727 TMEM165 55858 HP:0000939 Osteoporosis OMIM:614727 TMEM165 55858 HP:0001250 Seizures OMIM:614727 TMEM165 55858 HP:0002500 Abnormality of the cerebral white matter OMIM:614727 TMEM165 55858 HP:0002910 Elevated hepatic transaminases OMIM:614727 TMEM165 55858 HP:0001388 Joint laxity OMIM:614727 TMEM165 55858 HP:0001873 Thrombocytopenia OMIM:611407 VCL 7414 HP:0001644 Dilated cardiomyopathy OMIM:611407 VCL 7414 HP:0000006 Autosomal dominant inheritance OMIM:220290 GJB6 10804 HP:0010984 Digenic inheritance OMIM:220290 GJB6 10804 HP:0000007 Autosomal recessive inheritance OMIM:220290 GJB6 10804 HP:0000407 Sensorineural hearing impairment OMIM:220290 GJB6 10804 HP:0001751 Vestibular dysfunction OMIM:220290 GJB2 2706 HP:0010984 Digenic inheritance OMIM:220290 GJB2 2706 HP:0000007 Autosomal recessive inheritance OMIM:220290 GJB2 2706 HP:0000407 Sensorineural hearing impairment OMIM:220290 GJB2 2706 HP:0001751 Vestibular dysfunction OMIM:220290 GJB3 2707 HP:0010984 Digenic inheritance OMIM:220290 GJB3 2707 HP:0000007 Autosomal recessive inheritance OMIM:220290 GJB3 2707 HP:0000407 Sensorineural hearing impairment OMIM:220290 GJB3 2707 HP:0001751 Vestibular dysfunction OMIM:615995 BBIP1 92482 HP:0100543 Cognitive impairment OMIM:615995 BBIP1 92482 HP:0001156 Brachydactyly syndrome OMIM:615995 BBIP1 92482 HP:0001513 Obesity OMIM:615995 BBIP1 92482 HP:0000556 Retinal dystrophy OMIM:615995 BBIP1 92482 HP:0000510 Retinitis pigmentosa OMIM:615995 BBIP1 92482 HP:0000083 Renal insufficiency OMIM:615995 BBIP1 92482 HP:0000518 Cataract OMIM:606768 DYSF 8291 HP:0003236 Elevated serum creatine phosphokinase OMIM:606768 DYSF 8291 HP:0003693 Distal amyotrophy OMIM:606768 DYSF 8291 HP:0002460 Distal muscle weakness OMIM:606768 DYSF 8291 HP:0000007 Autosomal recessive inheritance OMIM:606768 DYSF 8291 HP:0003678 Rapidly progressive OMIM:606688 PRNP 5621 HP:0001298 Encephalopathy OMIM:606688 PRNP 5621 HP:0000751 Personality changes OMIM:606688 PRNP 5621 HP:0000726 Dementia OMIM:606688 PRNP 5621 HP:0000006 Autosomal dominant inheritance OMIM:606688 PRNP 5621 HP:0002171 Gliosis OMIM:614970 TMEM231 79583 HP:0000742 Self-mutilation OMIM:614970 TMEM231 79583 HP:0100259 Postaxial polydactyly OMIM:614970 TMEM231 79583 HP:0001344 Absent speech OMIM:614970 TMEM231 79583 HP:0001263 Global developmental delay OMIM:614970 TMEM231 79583 HP:0001159 Syndactyly OMIM:614970 TMEM231 79583 HP:0002093 Respiratory insufficiency OMIM:614970 TMEM231 79583 HP:0000107 Renal cyst OMIM:614970 TMEM231 79583 HP:0002419 Molar tooth sign on MRI OMIM:614970 TMEM231 79583 HP:0000657 Oculomotor apraxia OMIM:614970 TMEM231 79583 HP:0000007 Autosomal recessive inheritance OMIM:614970 TMEM231 79583 HP:0000488 Retinopathy OMIM:614970 TMEM231 79583 HP:0003577 Congenital onset OMIM:614970 TMEM231 79583 HP:0000718 Aggressive behavior OMIM:614249 MED23 9439 HP:0000007 Autosomal recessive inheritance OMIM:614249 MED23 9439 HP:0001249 Intellectual disability OMIM:615034 ANO3 63982 HP:0012048 Oromandibular dystonia OMIM:615034 ANO3 63982 HP:0000643 Blepharospasm OMIM:615034 ANO3 63982 HP:0003829 Incomplete penetrance OMIM:615034 ANO3 63982 HP:0000006 Autosomal dominant inheritance OMIM:615034 ANO3 63982 HP:0002346 Head tremor OMIM:615034 ANO3 63982 HP:0000473 Torticollis OMIM:615502 CTCF 10664 HP:0000028 Cryptorchidism OMIM:615502 CTCF 10664 HP:0000252 Microcephaly OMIM:615502 CTCF 10664 HP:0000164 Abnormality of the teeth OMIM:615502 CTCF 10664 HP:0001643 Patent ductus arteriosus OMIM:615502 CTCF 10664 HP:0000006 Autosomal dominant inheritance OMIM:615502 CTCF 10664 HP:0000175 Cleft palate OMIM:615502 CTCF 10664 HP:0000233 Thin vermilion border OMIM:615502 CTCF 10664 HP:0001631 Defect in the atrial septum OMIM:615502 CTCF 10664 HP:0004322 Short stature OMIM:615502 CTCF 10664 HP:0001249 Intellectual disability OMIM:615502 CTCF 10664 HP:0000729 Autistic behavior OMIM:615502 CTCF 10664 HP:0001263 Global developmental delay OMIM:615502 CTCF 10664 HP:0011968 Feeding difficulties OMIM:615502 CTCF 10664 HP:0000540 Hypermetropia OMIM:615502 CTCF 10664 HP:0001252 Muscular hypotonia OMIM:608890 SNAI2 6591 HP:0001425 Heterogeneous OMIM:608890 SNAI2 6591 HP:0008527 Congenital sensorineural hearing impairment OMIM:608890 SNAI2 6591 HP:0001100 Heterochromia iridis OMIM:608890 SNAI2 6591 HP:0000007 Autosomal recessive inheritance OMIM:608890 SNAI2 6591 HP:0000506 Telecanthus OMIM:214500 LYST 1130 HP:0001882 Leukopenia OMIM:214500 LYST 1130 HP:0000421 Epistaxis OMIM:214500 LYST 1130 HP:0001315 Reduced tendon reflexes OMIM:214500 LYST 1130 HP:0002716 Lymphadenopathy OMIM:214500 LYST 1130 HP:0000486 Strabismus OMIM:214500 LYST 1130 HP:0100838 Recurrent cutaneous abscess formation OMIM:214500 LYST 1130 HP:0005599 Hypopigmentation of hair OMIM:214500 LYST 1130 HP:0000639 Nystagmus OMIM:214500 LYST 1130 HP:0001337 Tremor OMIM:214500 LYST 1130 HP:0000978 Bruising susceptibility OMIM:214500 LYST 1130 HP:0002180 Neurodegeneration OMIM:214500 LYST 1130 HP:0007133 Progressive peripheral neuropathy OMIM:214500 LYST 1130 HP:0001276 Hypertonia OMIM:214500 LYST 1130 HP:0000505 Visual impairment OMIM:214500 LYST 1130 HP:0000230 Gingivitis OMIM:214500 LYST 1130 HP:0001010 Hypopigmentation of the skin OMIM:214500 LYST 1130 HP:0000704 Periodontitis OMIM:214500 LYST 1130 HP:0001903 Anemia OMIM:214500 LYST 1130 HP:0001265 Hyporeflexia OMIM:214500 LYST 1130 HP:0000613 Photophobia OMIM:214500 LYST 1130 HP:0002071 Abnormality of extrapyramidal motor function OMIM:214500 LYST 1130 HP:0001250 Seizures OMIM:214500 LYST 1130 HP:0000225 Gingival bleeding OMIM:214500 LYST 1130 HP:0002239 Gastrointestinal hemorrhage OMIM:214500 LYST 1130 HP:0003401 Paresthesia OMIM:214500 LYST 1130 HP:0000952 Jaundice OMIM:214500 LYST 1130 HP:0001288 Gait disturbance OMIM:214500 LYST 1130 HP:0100543 Cognitive impairment OMIM:214500 LYST 1130 HP:0001873 Thrombocytopenia OMIM:214500 LYST 1130 HP:0007513 Generalized hypopigmentation OMIM:214500 LYST 1130 HP:0009027 Foot dorsiflexor weakness OMIM:214500 LYST 1130 HP:0001744 Splenomegaly OMIM:214500 LYST 1130 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:214500 LYST 1130 HP:0002205 Recurrent respiratory infections OMIM:214500 LYST 1130 HP:0007730 Iris hypopigmentation OMIM:214500 LYST 1130 HP:0002376 Developmental regression OMIM:214500 LYST 1130 HP:0000007 Autosomal recessive inheritance OMIM:214500 LYST 1130 HP:0007440 Generalized hyperpigmentation OMIM:214500 LYST 1130 HP:0002240 Hepatomegaly OMIM:214500 LYST 1130 HP:0001107 Ocular albinism OMIM:214500 LYST 1130 HP:0200042 Skin ulcer OMIM:214500 LYST 1130 HP:0001874 Abnormality of neutrophils OMIM:214500 LYST 1130 HP:0001104 Macular hypoplasia OMIM:214500 LYST 1130 HP:0000762 Decreased nerve conduction velocity OMIM:214500 LYST 1130 HP:0004370 Abnormality of temperature regulation OMIM:214500 LYST 1130 HP:0006824 Cranial nerve paralysis OMIM:214500 LYST 1130 HP:0001249 Intellectual disability OMIM:214500 LYST 1130 HP:0005429 Recurrent systemic pyogenic infections OMIM:214500 LYST 1130 HP:0005592 Giant melanosomes in melanocytes OMIM:185070 STIM1 6786 HP:0000348 High forehead OMIM:185070 STIM1 6786 HP:0003198 Myopathy OMIM:185070 STIM1 6786 HP:0008064 Ichthyosis OMIM:185070 STIM1 6786 HP:0003326 Myalgia OMIM:185070 STIM1 6786 HP:0000615 Abnormality of the pupil OMIM:185070 STIM1 6786 HP:0003236 Elevated serum creatine phosphokinase OMIM:185070 STIM1 6786 HP:0000421 Epistaxis OMIM:185070 STIM1 6786 HP:0003701 Proximal muscle weakness OMIM:185070 STIM1 6786 HP:0001743 Abnormality of the spleen OMIM:185070 STIM1 6786 HP:0002076 Migraine OMIM:185070 STIM1 6786 HP:0001746 Asplenia OMIM:185070 STIM1 6786 HP:0000490 Deeply set eye OMIM:185070 STIM1 6786 HP:0002401 Stroke-like episodes OMIM:185070 STIM1 6786 HP:0001873 Thrombocytopenia OMIM:185070 STIM1 6786 HP:0001903 Anemia OMIM:185070 STIM1 6786 HP:0004322 Short stature OMIM:185070 STIM1 6786 HP:0002167 Neurological speech impairment OMIM:185070 STIM1 6786 HP:0001933 Subcutaneous hemorrhage OMIM:185070 STIM1 6786 HP:0001872 Abnormality of thrombocytes OMIM:185070 STIM1 6786 HP:0000601 Hypotelorism OMIM:185070 STIM1 6786 HP:0003750 Increased muscle fatiguability OMIM:185070 STIM1 6786 HP:0000616 Miosis OMIM:185070 STIM1 6786 HP:0000006 Autosomal dominant inheritance OMIM:185070 STIM1 6786 HP:0010522 Dyslexia OMIM:185070 STIM1 6786 HP:0000448 Prominent nose OMIM:185070 STIM1 6786 HP:0003011 Abnormality of the musculature OMIM:185070 STIM1 6786 HP:0001928 Abnormality of coagulation OMIM:153100 FLT4 2324 HP:0000006 Autosomal dominant inheritance OMIM:153100 FLT4 2324 HP:0007448 Hyperkeratosis over edematous areas OMIM:153100 FLT4 2324 HP:0003550 Predominantly lower limb lymphedema OMIM:153100 FLT4 2324 HP:0003577 Congenital onset OMIM:153100 FLT4 2324 HP:0001028 Hemangioma OMIM:153100 FLT4 2324 HP:0000034 Hydrocele testis OMIM:153100 FLT4 2324 HP:0001597 Abnormality of the nail OMIM:153100 FLT4 2324 HP:0001790 Nonimmune hydrops fetalis OMIM:153100 FLT4 2324 HP:0003759 Hypoplasia of lymphatic vessels OMIM:153100 FLT4 2324 HP:0001560 Abnormality of the amniotic fluid OMIM:274700 TG 7038 HP:0008223 Compensated hypothyroidism OMIM:274700 TG 7038 HP:0012559 Increased T3/T4 ratio OMIM:274700 TG 7038 HP:0001249 Intellectual disability OMIM:274700 TG 7038 HP:0002890 Thyroid carcinoma OMIM:274700 TG 7038 HP:0000853 Goiter OMIM:274700 TG 7038 HP:0000007 Autosomal recessive inheritance OMIM:116790 COMT 1312 HP:0000007 Autosomal recessive inheritance OMIM:116790 COMT 1312 HP:0001939 Abnormality of metabolism/homeostasis OMIM:259770 LRP5 4041 HP:0001089 Iris atrophy OMIM:259770 LRP5 4041 HP:0100543 Cognitive impairment OMIM:259770 LRP5 4041 HP:0000518 Cataract OMIM:259770 LRP5 4041 HP:0000667 Phthisis bulbi OMIM:259770 LRP5 4041 HP:0001252 Muscular hypotonia OMIM:259770 LRP5 4041 HP:0011362 Abnormal hair quantity OMIM:259770 LRP5 4041 HP:0002757 Recurrent fractures OMIM:259770 LRP5 4041 HP:0002756 Pathologic fracture OMIM:259770 LRP5 4041 HP:0006487 Bowing of the long bones OMIM:259770 LRP5 4041 HP:0000347 Micrognathia OMIM:259770 LRP5 4041 HP:0007773 Vitreoretinal abnormalities OMIM:259770 LRP5 4041 HP:0000252 Microcephaly OMIM:259770 LRP5 4041 HP:0000939 Osteoporosis OMIM:259770 LRP5 4041 HP:0004322 Short stature OMIM:259770 LRP5 4041 HP:0000618 Blindness OMIM:259770 LRP5 4041 HP:0001552 Barrel-shaped chest OMIM:259770 LRP5 4041 HP:0000568 Microphthalmos OMIM:259770 LRP5 4041 HP:0001382 Joint hypermobility OMIM:259770 LRP5 4041 HP:0003016 Metaphyseal widening OMIM:259770 LRP5 4041 HP:0005280 Depressed nasal bridge OMIM:259770 LRP5 4041 HP:0003312 Abnormal form of the vertebral bodies OMIM:259770 LRP5 4041 HP:0001513 Obesity OMIM:259770 LRP5 4041 HP:0002808 Kyphosis OMIM:259770 LRP5 4041 HP:0000615 Abnormality of the pupil OMIM:259770 LRP5 4041 HP:0000505 Visual impairment OMIM:259770 LRP5 4041 HP:0002751 Kyphoscoliosis OMIM:259770 LRP5 4041 HP:0001256 Intellectual disability, mild OMIM:259770 LRP5 4041 HP:0000648 Optic atrophy OMIM:259770 LRP5 4041 HP:0009733 Glioma OMIM:259770 LRP5 4041 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:259770 LRP5 4041 HP:0002162 Low posterior hairline OMIM:259770 LRP5 4041 HP:0008037 Absent anterior eye chamber OMIM:259770 LRP5 4041 HP:0002750 Delayed skeletal maturation OMIM:259770 LRP5 4041 HP:0001629 Ventricular septal defect OMIM:259770 LRP5 4041 HP:0000007 Autosomal recessive inheritance OMIM:259770 LRP5 4041 HP:0004349 Reduced bone mineral density OMIM:259770 LRP5 4041 HP:0000926 Platyspondyly OMIM:178600 BMPR2 659 HP:0005168 Elevated right atrial pressure OMIM:178600 BMPR2 659 HP:0002094 Dyspnea OMIM:178600 BMPR2 659 HP:0005308 Pulmonary artery vasoconstriction OMIM:178600 BMPR2 659 HP:0000006 Autosomal dominant inheritance OMIM:178600 BMPR2 659 HP:0011353 Arterial intimal fibrosis OMIM:178600 BMPR2 659 HP:0001667 Right ventricular hypertrophy OMIM:178600 BMPR2 659 HP:0002092 Pulmonary hypertension OMIM:178600 BMPR2 659 HP:0001708 Right ventricular failure OMIM:178600 BMPR2 659 HP:0005317 Increased pulmonary vascular resistance OMIM:178600 BMPR2 659 HP:0000822 Hypertension OMIM:178600 BMPR2 659 HP:0003829 Incomplete penetrance OMIM:178600 BMPR2 659 HP:0001977 Abnormal thrombosis OMIM:178600 BMPR2 659 HP:0004964 Pulmonary arterial medial hypertrophy OMIM:178600 BMPR2 659 HP:0001009 Telangiectasia OMIM:178600 BMPR2 659 HP:0005312 Pulmonary aterial intimal fibrosis OMIM:278780 ERCC5 2073 HP:0000007 Autosomal recessive inheritance OMIM:278780 ERCC5 2073 HP:0003079 Defective DNA repair after ultraviolet radiation damage OMIM:615710 RFX6 222546 HP:0005235 Jejunal atresia OMIM:615710 RFX6 222546 HP:0002024 Malabsorption OMIM:615710 RFX6 222546 HP:0002566 Intestinal malrotation OMIM:615710 RFX6 222546 HP:0000007 Autosomal recessive inheritance OMIM:615710 RFX6 222546 HP:0002014 Diarrhea OMIM:615710 RFX6 222546 HP:0002247 Duodenal atresia OMIM:615710 RFX6 222546 HP:0002904 Hyperbilirubinemia OMIM:615710 RFX6 222546 HP:0001511 Intrauterine growth retardation OMIM:615710 RFX6 222546 HP:0011985 Acholic stools OMIM:615710 RFX6 222546 HP:0001545 Anteriorly placed anus OMIM:615710 RFX6 222546 HP:0011467 Absent gallbladder OMIM:615710 RFX6 222546 HP:0005912 Biliary atresia OMIM:615710 RFX6 222546 HP:0003074 Hyperglycemia OMIM:613285 GRXCR1 389207 HP:0000365 Hearing impairment OMIM:613285 GRXCR1 389207 HP:0000007 Autosomal recessive inheritance OMIM:226750 ROGDI 79641 HP:0000238 Hydrocephalus OMIM:226750 ROGDI 79641 HP:0002521 Hypsarrhythmia OMIM:226750 ROGDI 79641 HP:0011073 Abnormality of dental color OMIM:226750 ROGDI 79641 HP:0000966 Hypohidrosis OMIM:226750 ROGDI 79641 HP:0002376 Developmental regression OMIM:226750 ROGDI 79641 HP:0010864 Intellectual disability, severe OMIM:226750 ROGDI 79641 HP:0000682 Abnormality of dental enamel OMIM:226750 ROGDI 79641 HP:0001250 Seizures OMIM:226750 ROGDI 79641 HP:0001276 Hypertonia OMIM:226750 ROGDI 79641 HP:0001251 Ataxia OMIM:226750 ROGDI 79641 HP:0000726 Dementia OMIM:226750 ROGDI 79641 HP:0001257 Spasticity OMIM:226750 ROGDI 79641 HP:0001321 Cerebellar hypoplasia OMIM:226750 ROGDI 79641 HP:0003828 Variable expressivity OMIM:226750 ROGDI 79641 HP:0002059 Cerebral atrophy OMIM:226750 ROGDI 79641 HP:0200134 Epileptic encephalopathy OMIM:226750 ROGDI 79641 HP:0001263 Global developmental delay OMIM:226750 ROGDI 79641 HP:0006297 Hypoplasia of dental enamel OMIM:226750 ROGDI 79641 HP:0002353 EEG abnormality OMIM:226750 ROGDI 79641 HP:0002119 Ventriculomegaly OMIM:226750 ROGDI 79641 HP:0000705 Amelogenesis imperfecta OMIM:226750 ROGDI 79641 HP:0004322 Short stature OMIM:226750 ROGDI 79641 HP:0000007 Autosomal recessive inheritance OMIM:613280 SLC30A10 55532 HP:0000007 Autosomal recessive inheritance OMIM:613280 SLC30A10 55532 HP:0002240 Hepatomegaly OMIM:613280 SLC30A10 55532 HP:0001901 Polycythemia OMIM:613280 SLC30A10 55532 HP:0003828 Variable expressivity OMIM:613280 SLC30A10 55532 HP:0001410 Decreased liver function OMIM:613280 SLC30A10 55532 HP:0002063 Rigidity OMIM:613280 SLC30A10 55532 HP:0007141 Sensorimotor neuropathy OMIM:613280 SLC30A10 55532 HP:0002313 Spastic paraparesis OMIM:613280 SLC30A10 55532 HP:0001260 Dysarthria OMIM:613280 SLC30A10 55532 HP:0002172 Postural instability OMIM:613280 SLC30A10 55532 HP:0001337 Tremor OMIM:613280 SLC30A10 55532 HP:0001300 Parkinsonism OMIM:613280 SLC30A10 55532 HP:0001394 Cirrhosis OMIM:613280 SLC30A10 55532 HP:0002910 Elevated hepatic transaminases OMIM:613280 SLC30A10 55532 HP:0001332 Dystonia OMIM:613280 SLC30A10 55532 HP:0002067 Bradykinesia OMIM:613347 BRCA2 675 HP:0002894 Neoplasm of the pancreas OMIM:612740 ALAD 210 HP:0000988 Skin rash OMIM:612740 ALAD 210 HP:0001252 Muscular hypotonia OMIM:612740 ALAD 210 HP:0000007 Autosomal recessive inheritance OMIM:612740 ALAD 210 HP:0003401 Paresthesia OMIM:612740 ALAD 210 HP:0000998 Hypertrichosis OMIM:612740 ALAD 210 HP:0000992 Cutaneous photosensitivity OMIM:612740 ALAD 210 HP:0004374 Hemiplegia/hemiparesis OMIM:612740 ALAD 210 HP:0000708 Behavioral abnormality OMIM:612740 ALAD 210 HP:0002203 Respiratory paralysis OMIM:612740 ALAD 210 HP:0011848 Abdominal colic OMIM:612740 ALAD 210 HP:0007400 Irregular hyperpigmentation OMIM:612740 ALAD 210 HP:0008069 Neoplasm of the skin OMIM:612740 ALAD 210 HP:0003470 Paralysis OMIM:612740 ALAD 210 HP:0001508 Failure to thrive OMIM:612740 ALAD 210 HP:0100021 Cerebral palsy OMIM:612740 ALAD 210 HP:0000963 Thin skin OMIM:612740 ALAD 210 HP:0003163 Elevated urinary delta-aminolevulinic acid OMIM:612740 ALAD 210 HP:0001053 Hypopigmented skin patches OMIM:612740 ALAD 210 HP:0008066 Abnormal blistering of the skin OMIM:612740 ALAD 210 HP:0002013 Vomiting OMIM:612740 ALAD 210 HP:0001878 Hemolytic anemia OMIM:608203 RAC2 5880 HP:0002721 Immunodeficiency OMIM:608203 RAC2 5880 HP:0001874 Abnormality of neutrophils OMIM:608203 RAC2 5880 HP:0010978 Abnormality of immune system physiology OMIM:219730 CRB2 286204 HP:0001561 Polyhydramnios OMIM:219730 CRB2 286204 HP:0002119 Ventriculomegaly OMIM:219730 CRB2 286204 HP:0001250 Seizures OMIM:219730 CRB2 286204 HP:0000238 Hydrocephalus OMIM:219730 CRB2 286204 HP:0001629 Ventricular septal defect OMIM:219730 CRB2 286204 HP:0000083 Renal insufficiency OMIM:219730 CRB2 286204 HP:0001622 Premature birth OMIM:219730 CRB2 286204 HP:0000007 Autosomal recessive inheritance OMIM:219730 CRB2 286204 HP:0000108 Renal corticomedullary cysts OMIM:250940 MTR 4548 HP:0001508 Failure to thrive OMIM:250940 MTR 4548 HP:0002156 Homocystinuria OMIM:250940 MTR 4548 HP:0003524 Decreased methionine synthase activity OMIM:250940 MTR 4548 HP:0000618 Blindness OMIM:250940 MTR 4548 HP:0003593 Infantile onset OMIM:250940 MTR 4548 HP:0001263 Global developmental delay OMIM:250940 MTR 4548 HP:0000639 Nystagmus OMIM:250940 MTR 4548 HP:0001252 Muscular hypotonia OMIM:250940 MTR 4548 HP:0008872 Feeding difficulties in infancy OMIM:250940 MTR 4548 HP:0001889 Megaloblastic anemia OMIM:250940 MTR 4548 HP:0001249 Intellectual disability OMIM:250940 MTR 4548 HP:0003223 Decreased methylcobalamin OMIM:250940 MTR 4548 HP:0000007 Autosomal recessive inheritance OMIM:250940 MTR 4548 HP:0001288 Gait disturbance OMIM:250940 MTR 4548 HP:0002160 Hyperhomocystinemia OMIM:250940 MTR 4548 HP:0002059 Cerebral atrophy OMIM:250940 MTR 4548 HP:0002370 Poor coordination OMIM:250940 MTR 4548 HP:0001250 Seizures OMIM:250940 MTR 4548 HP:0003658 Hypomethioninemia OMIM:224500 HPCA 3208 HP:0001304 Torsion dystonia OMIM:224500 HPCA 3208 HP:0000643 Blepharospasm OMIM:224500 HPCA 3208 HP:0000473 Torticollis OMIM:224500 HPCA 3208 HP:0000007 Autosomal recessive inheritance OMIM:224500 HPCA 3208 HP:0003621 Juvenile onset OMIM:224500 HPCA 3208 HP:0002015 Dysphagia OMIM:224500 HPCA 3208 HP:0001337 Tremor OMIM:224500 HPCA 3208 HP:0001260 Dysarthria OMIM:226900 SLC26A2 1836 HP:0004209 Clinodactyly of the 5th finger OMIM:226900 SLC26A2 1836 HP:0006376 Limited elbow flexion OMIM:226900 SLC26A2 1836 HP:0001385 Hip dysplasia OMIM:226900 SLC26A2 1836 HP:0002829 Arthralgia OMIM:226900 SLC26A2 1836 HP:0010049 Short metacarpal OMIM:226900 SLC26A2 1836 HP:0002656 Epiphyseal dysplasia OMIM:226900 SLC26A2 1836 HP:0000364 Hearing abnormality OMIM:226900 SLC26A2 1836 HP:0001156 Brachydactyly syndrome OMIM:226900 SLC26A2 1836 HP:0002758 Osteoarthritis OMIM:226900 SLC26A2 1836 HP:0006443 Patellar aplasia OMIM:226900 SLC26A2 1836 HP:0002650 Scoliosis OMIM:226900 SLC26A2 1836 HP:0001762 Talipes equinovarus OMIM:226900 SLC26A2 1836 HP:0001883 Talipes OMIM:226900 SLC26A2 1836 HP:0000175 Cleft palate OMIM:226900 SLC26A2 1836 HP:0008802 Hypoplasia of the femoral head OMIM:226900 SLC26A2 1836 HP:0005930 Abnormality of epiphysis morphology OMIM:226900 SLC26A2 1836 HP:0004322 Short stature OMIM:226900 SLC26A2 1836 HP:0003370 Flat capital femoral epiphysis OMIM:226900 SLC26A2 1836 HP:0000007 Autosomal recessive inheritance OMIM:226900 SLC26A2 1836 HP:0002654 Multiple epiphyseal dysplasia ORPHANET:231169 MYO7A 4647 HP:0000662 Night blindness ORPHANET:231169 MYO7A 4647 HP:0000738 Hallucinations ORPHANET:231169 MYO7A 4647 HP:0000505 Visual impairment ORPHANET:231169 MYO7A 4647 HP:0000512 Abnormal electroretinogram ORPHANET:231169 MYO7A 4647 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:231169 MYO7A 4647 HP:0000682 Abnormality of dental enamel ORPHANET:231169 MYO7A 4647 HP:0000518 Cataract ORPHANET:231169 MYO7A 4647 HP:0007703 Abnormal retinal pigmentation ORPHANET:231169 MYO7A 4647 HP:0000540 Hypermetropia ORPHANET:231169 MYO7A 4647 HP:0100543 Cognitive impairment ORPHANET:231169 MYO7A 4647 HP:0000407 Sensorineural hearing impairment ORPHANET:231169 MYO7A 4647 HP:0001123 Visual field defect ORPHANET:231169 MYO7A 4647 HP:0002120 Cerebral cortical atrophy ORPHANET:231169 MYO7A 4647 HP:0002311 Incoordination ORPHANET:231169 USH1G 124590 HP:0000662 Night blindness ORPHANET:231169 USH1G 124590 HP:0000738 Hallucinations ORPHANET:231169 USH1G 124590 HP:0000505 Visual impairment ORPHANET:231169 USH1G 124590 HP:0000512 Abnormal electroretinogram ORPHANET:231169 USH1G 124590 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:231169 USH1G 124590 HP:0000682 Abnormality of dental enamel ORPHANET:231169 USH1G 124590 HP:0000518 Cataract ORPHANET:231169 USH1G 124590 HP:0007703 Abnormal retinal pigmentation ORPHANET:231169 USH1G 124590 HP:0000540 Hypermetropia ORPHANET:231169 USH1G 124590 HP:0100543 Cognitive impairment ORPHANET:231169 USH1G 124590 HP:0000407 Sensorineural hearing impairment ORPHANET:231169 USH1G 124590 HP:0001123 Visual field defect ORPHANET:231169 USH1G 124590 HP:0002120 Cerebral cortical atrophy ORPHANET:231169 USH1G 124590 HP:0002311 Incoordination ORPHANET:231169 CIB2 10518 HP:0000662 Night blindness ORPHANET:231169 CIB2 10518 HP:0000738 Hallucinations ORPHANET:231169 CIB2 10518 HP:0000505 Visual impairment ORPHANET:231169 CIB2 10518 HP:0000512 Abnormal electroretinogram ORPHANET:231169 CIB2 10518 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:231169 CIB2 10518 HP:0000682 Abnormality of dental enamel ORPHANET:231169 CIB2 10518 HP:0000518 Cataract ORPHANET:231169 CIB2 10518 HP:0007703 Abnormal retinal pigmentation ORPHANET:231169 CIB2 10518 HP:0000540 Hypermetropia ORPHANET:231169 CIB2 10518 HP:0100543 Cognitive impairment ORPHANET:231169 CIB2 10518 HP:0000407 Sensorineural hearing impairment ORPHANET:231169 CIB2 10518 HP:0001123 Visual field defect ORPHANET:231169 CIB2 10518 HP:0002120 Cerebral cortical atrophy ORPHANET:231169 CIB2 10518 HP:0002311 Incoordination ORPHANET:231169 CDH23 64072 HP:0000662 Night blindness ORPHANET:231169 CDH23 64072 HP:0000738 Hallucinations ORPHANET:231169 CDH23 64072 HP:0000505 Visual impairment ORPHANET:231169 CDH23 64072 HP:0000512 Abnormal electroretinogram ORPHANET:231169 CDH23 64072 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:231169 CDH23 64072 HP:0000682 Abnormality of dental enamel ORPHANET:231169 CDH23 64072 HP:0000518 Cataract ORPHANET:231169 CDH23 64072 HP:0007703 Abnormal retinal pigmentation ORPHANET:231169 CDH23 64072 HP:0000540 Hypermetropia ORPHANET:231169 CDH23 64072 HP:0100543 Cognitive impairment ORPHANET:231169 CDH23 64072 HP:0000407 Sensorineural hearing impairment ORPHANET:231169 CDH23 64072 HP:0001123 Visual field defect ORPHANET:231169 CDH23 64072 HP:0002120 Cerebral cortical atrophy ORPHANET:231169 CDH23 64072 HP:0002311 Incoordination ORPHANET:231169 USH1C 10083 HP:0000662 Night blindness ORPHANET:231169 USH1C 10083 HP:0000738 Hallucinations ORPHANET:231169 USH1C 10083 HP:0000505 Visual impairment ORPHANET:231169 USH1C 10083 HP:0000512 Abnormal electroretinogram ORPHANET:231169 USH1C 10083 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:231169 USH1C 10083 HP:0000682 Abnormality of dental enamel ORPHANET:231169 USH1C 10083 HP:0000518 Cataract ORPHANET:231169 USH1C 10083 HP:0007703 Abnormal retinal pigmentation ORPHANET:231169 USH1C 10083 HP:0000540 Hypermetropia ORPHANET:231169 USH1C 10083 HP:0100543 Cognitive impairment ORPHANET:231169 USH1C 10083 HP:0000407 Sensorineural hearing impairment ORPHANET:231169 USH1C 10083 HP:0001123 Visual field defect ORPHANET:231169 USH1C 10083 HP:0002120 Cerebral cortical atrophy ORPHANET:231169 USH1C 10083 HP:0002311 Incoordination ORPHANET:231169 PCDH15 65217 HP:0000662 Night blindness ORPHANET:231169 PCDH15 65217 HP:0000738 Hallucinations ORPHANET:231169 PCDH15 65217 HP:0000505 Visual impairment ORPHANET:231169 PCDH15 65217 HP:0000512 Abnormal electroretinogram ORPHANET:231169 PCDH15 65217 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:231169 PCDH15 65217 HP:0000682 Abnormality of dental enamel ORPHANET:231169 PCDH15 65217 HP:0000518 Cataract ORPHANET:231169 PCDH15 65217 HP:0007703 Abnormal retinal pigmentation ORPHANET:231169 PCDH15 65217 HP:0000540 Hypermetropia ORPHANET:231169 PCDH15 65217 HP:0100543 Cognitive impairment ORPHANET:231169 PCDH15 65217 HP:0000407 Sensorineural hearing impairment ORPHANET:231169 PCDH15 65217 HP:0001123 Visual field defect ORPHANET:231169 PCDH15 65217 HP:0002120 Cerebral cortical atrophy ORPHANET:231169 PCDH15 65217 HP:0002311 Incoordination ORPHANET:2907 FERMT1 55612 HP:0100669 Abnormal pigmentation of the oral mucosa ORPHANET:2907 FERMT1 55612 HP:0000772 Abnormality of the ribs ORPHANET:2907 FERMT1 55612 HP:0003272 Abnormality of the hip bone ORPHANET:2907 FERMT1 55612 HP:0100490 Camptodactyly of finger ORPHANET:2907 FERMT1 55612 HP:0000492 Abnormality of the eyelid ORPHANET:2907 FERMT1 55612 HP:0008064 Ichthyosis ORPHANET:2907 FERMT1 55612 HP:0000217 Xerostomia ORPHANET:2907 FERMT1 55612 HP:0200042 Skin ulcer ORPHANET:2907 FERMT1 55612 HP:0100585 Teleangiectasia of the skin ORPHANET:2907 FERMT1 55612 HP:0006323 Premature loss of primary teeth ORPHANET:2907 FERMT1 55612 HP:0010296 Ankyloglossia ORPHANET:2907 FERMT1 55612 HP:0000225 Gingival bleeding ORPHANET:2907 FERMT1 55612 HP:0006101 Finger syndactyly ORPHANET:2907 FERMT1 55612 HP:0000365 Hearing impairment ORPHANET:2907 FERMT1 55612 HP:0001231 Abnormality of the fingernails ORPHANET:2907 FERMT1 55612 HP:0002648 Abnormality of calvarial morphology ORPHANET:2907 FERMT1 55612 HP:0000211 Trismus ORPHANET:2907 FERMT1 55612 HP:0011024 Abnormality of the gastrointestinal tract ORPHANET:2907 FERMT1 55612 HP:0100587 Abnormality of the preputium ORPHANET:2907 FERMT1 55612 HP:0000964 Eczema ORPHANET:2907 FERMT1 55612 HP:0008069 Neoplasm of the skin ORPHANET:2907 FERMT1 55612 HP:0007759 Opacification of the corneal stroma ORPHANET:2907 FERMT1 55612 HP:0008388 Abnormality of the toenails ORPHANET:2907 FERMT1 55612 HP:0001163 Abnormality of the metacarpal bones ORPHANET:2907 FERMT1 55612 HP:0000230 Gingivitis ORPHANET:2907 FERMT1 55612 HP:0001053 Hypopigmented skin patches ORPHANET:2907 FERMT1 55612 HP:0000963 Thin skin ORPHANET:2907 FERMT1 55612 HP:0008066 Abnormal blistering of the skin ORPHANET:2907 FERMT1 55612 HP:0200039 Pustule ORPHANET:2907 FERMT1 55612 HP:0000689 Dental malocclusion ORPHANET:2907 FERMT1 55612 HP:0001025 Urticaria ORPHANET:2907 FERMT1 55612 HP:0007400 Irregular hyperpigmentation ORPHANET:2907 FERMT1 55612 HP:0000091 Abnormality of the renal tubule ORPHANET:2907 FERMT1 55612 HP:0000982 Palmoplantar keratoderma ORPHANET:2907 FERMT1 55612 HP:0004322 Short stature ORPHANET:2907 FERMT1 55612 HP:0000795 Abnormality of the urethra ORPHANET:2907 FERMT1 55612 HP:0001382 Joint hypermobility OMIM:615282 KIF5C 3800 HP:0000006 Autosomal dominant inheritance OMIM:615282 KIF5C 3800 HP:0002539 Cortical dysplasia OMIM:615282 KIF5C 3800 HP:0001263 Global developmental delay OMIM:615282 KIF5C 3800 HP:0002510 Spastic tetraplegia OMIM:615282 KIF5C 3800 HP:0002126 Polymicrogyria OMIM:615282 KIF5C 3800 HP:0001250 Seizures OMIM:615282 KIF5C 3800 HP:0003577 Congenital onset OMIM:615282 KIF5C 3800 HP:0002079 Hypoplasia of the corpus callosum OMIM:615282 KIF5C 3800 HP:0000252 Microcephaly OMIM:615282 KIF5C 3800 HP:0001511 Intrauterine growth retardation OMIM:615282 KIF5C 3800 HP:0001344 Absent speech OMIM:615282 KIF5C 3800 HP:0001989 Fetal akinesia sequence OMIM:615282 KIF5C 3800 HP:0002804 Arthrogryposis multiplex congenita OMIM:216360 TMEM67 91147 HP:0000316 Hypertelorism OMIM:216360 TMEM67 91147 HP:0000639 Nystagmus OMIM:216360 TMEM67 91147 HP:0002342 Intellectual disability, moderate OMIM:216360 TMEM67 91147 HP:0001510 Growth delay OMIM:216360 TMEM67 91147 HP:0001162 Postaxial hand polydactyly OMIM:216360 TMEM67 91147 HP:0002650 Scoliosis OMIM:216360 TMEM67 91147 HP:0000090 Nephronophthisis OMIM:216360 TMEM67 91147 HP:0000311 Round face OMIM:216360 TMEM67 91147 HP:0000864 Abnormality of the hypothalamus-pituitary axis OMIM:216360 TMEM67 91147 HP:0000508 Ptosis OMIM:216360 TMEM67 91147 HP:0000657 Oculomotor apraxia OMIM:216360 TMEM67 91147 HP:0000083 Renal insufficiency OMIM:216360 TMEM67 91147 HP:0000567 Chorioretinal coloboma OMIM:216360 TMEM67 91147 HP:0000486 Strabismus OMIM:216360 TMEM67 91147 HP:0002240 Hepatomegaly OMIM:216360 TMEM67 91147 HP:0001347 Hyperreflexia OMIM:216360 TMEM67 91147 HP:0008659 Multiple small medullary renal cysts OMIM:216360 TMEM67 91147 HP:0001395 Hepatic fibrosis OMIM:216360 TMEM67 91147 HP:0000505 Visual impairment OMIM:216360 TMEM67 91147 HP:0001250 Seizures OMIM:216360 TMEM67 91147 HP:0002910 Elevated hepatic transaminases OMIM:216360 TMEM67 91147 HP:0001394 Cirrhosis OMIM:216360 TMEM67 91147 HP:0000341 Narrow forehead OMIM:216360 TMEM67 91147 HP:0008872 Feeding difficulties in infancy OMIM:216360 TMEM67 91147 HP:0000589 Coloboma OMIM:216360 TMEM67 91147 HP:0001288 Gait disturbance OMIM:216360 TMEM67 91147 HP:0000163 Abnormality of the oral cavity OMIM:216360 TMEM67 91147 HP:0001080 Biliary tract abnormality OMIM:216360 TMEM67 91147 HP:0002269 Abnormality of neuronal migration OMIM:216360 TMEM67 91147 HP:0002612 Congenital hepatic fibrosis OMIM:216360 TMEM67 91147 HP:0000256 Macrocephaly OMIM:216360 TMEM67 91147 HP:0000276 Long face OMIM:216360 TMEM67 91147 HP:0000612 Iris coloboma OMIM:216360 TMEM67 91147 HP:0100543 Cognitive impairment OMIM:216360 TMEM67 91147 HP:0000463 Anteverted nares OMIM:216360 TMEM67 91147 HP:0001744 Splenomegaly OMIM:216360 TMEM67 91147 HP:0003593 Infantile onset OMIM:216360 TMEM67 91147 HP:0001251 Ataxia OMIM:216360 TMEM67 91147 HP:0001409 Portal hypertension OMIM:216360 TMEM67 91147 HP:0000588 Optic nerve coloboma OMIM:216360 TMEM67 91147 HP:0004299 Hernia of the abdominal wall OMIM:216360 TMEM67 91147 HP:0002311 Incoordination OMIM:216360 TMEM67 91147 HP:0001252 Muscular hypotonia OMIM:216360 TMEM67 91147 HP:0001263 Global developmental delay OMIM:216360 TMEM67 91147 HP:0000238 Hydrocephalus OMIM:216360 TMEM67 91147 HP:0100626 Chronic hepatic failure OMIM:216360 TMEM67 91147 HP:0001257 Spasticity OMIM:216360 TMEM67 91147 HP:0002085 Occipital encephalocele OMIM:216360 TMEM67 91147 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:216360 TMEM67 91147 HP:0000154 Wide mouth OMIM:216360 TMEM67 91147 HP:0000426 Prominent nasal bridge OMIM:216360 TMEM67 91147 HP:0001337 Tremor OMIM:216360 TMEM67 91147 HP:0000368 Low-set, posteriorly rotated ears OMIM:216360 TMEM67 91147 HP:0000007 Autosomal recessive inheritance OMIM:216360 TMEM67 91147 HP:0002419 Molar tooth sign on MRI OMIM:216360 TMEM67 91147 HP:0000112 Nephropathy OMIM:216360 TMEM67 91147 HP:0001425 Heterogeneous OMIM:216360 TMEM67 91147 HP:0002553 Highly arched eyebrow OMIM:216360 TMEM67 91147 HP:0002084 Encephalocele OMIM:216360 TMEM67 91147 HP:0000003 Multicystic kidney dysplasia OMIM:216360 TMEM67 91147 HP:0000202 Oral cleft OMIM:216360 TMEM67 91147 HP:0002896 Neoplasm of the liver OMIM:216360 TMEM67 91147 HP:0001320 Cerebellar vermis hypoplasia OMIM:216360 TMEM67 91147 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:216360 TMEM67 91147 HP:0002104 Apnea OMIM:216360 RPGRIP1L 23322 HP:0000316 Hypertelorism OMIM:216360 RPGRIP1L 23322 HP:0000639 Nystagmus OMIM:216360 RPGRIP1L 23322 HP:0002342 Intellectual disability, moderate OMIM:216360 RPGRIP1L 23322 HP:0001510 Growth delay OMIM:216360 RPGRIP1L 23322 HP:0001162 Postaxial hand polydactyly OMIM:216360 RPGRIP1L 23322 HP:0002650 Scoliosis OMIM:216360 RPGRIP1L 23322 HP:0000090 Nephronophthisis OMIM:216360 RPGRIP1L 23322 HP:0000311 Round face OMIM:216360 RPGRIP1L 23322 HP:0000864 Abnormality of the hypothalamus-pituitary axis OMIM:216360 RPGRIP1L 23322 HP:0000508 Ptosis OMIM:216360 RPGRIP1L 23322 HP:0000657 Oculomotor apraxia OMIM:216360 RPGRIP1L 23322 HP:0000083 Renal insufficiency OMIM:216360 RPGRIP1L 23322 HP:0000567 Chorioretinal coloboma OMIM:216360 RPGRIP1L 23322 HP:0000486 Strabismus OMIM:216360 RPGRIP1L 23322 HP:0002240 Hepatomegaly OMIM:216360 RPGRIP1L 23322 HP:0001347 Hyperreflexia OMIM:216360 RPGRIP1L 23322 HP:0008659 Multiple small medullary renal cysts OMIM:216360 RPGRIP1L 23322 HP:0001395 Hepatic fibrosis OMIM:216360 RPGRIP1L 23322 HP:0000505 Visual impairment OMIM:216360 RPGRIP1L 23322 HP:0001250 Seizures OMIM:216360 RPGRIP1L 23322 HP:0002910 Elevated hepatic transaminases OMIM:216360 RPGRIP1L 23322 HP:0001394 Cirrhosis OMIM:216360 RPGRIP1L 23322 HP:0000341 Narrow forehead OMIM:216360 RPGRIP1L 23322 HP:0008872 Feeding difficulties in infancy OMIM:216360 RPGRIP1L 23322 HP:0000589 Coloboma OMIM:216360 RPGRIP1L 23322 HP:0001288 Gait disturbance OMIM:216360 RPGRIP1L 23322 HP:0000163 Abnormality of the oral cavity OMIM:216360 RPGRIP1L 23322 HP:0001080 Biliary tract abnormality OMIM:216360 RPGRIP1L 23322 HP:0002269 Abnormality of neuronal migration OMIM:216360 RPGRIP1L 23322 HP:0002612 Congenital hepatic fibrosis OMIM:216360 RPGRIP1L 23322 HP:0000256 Macrocephaly OMIM:216360 RPGRIP1L 23322 HP:0000276 Long face OMIM:216360 RPGRIP1L 23322 HP:0000612 Iris coloboma OMIM:216360 RPGRIP1L 23322 HP:0100543 Cognitive impairment OMIM:216360 RPGRIP1L 23322 HP:0000463 Anteverted nares OMIM:216360 RPGRIP1L 23322 HP:0001744 Splenomegaly OMIM:216360 RPGRIP1L 23322 HP:0003593 Infantile onset OMIM:216360 RPGRIP1L 23322 HP:0001251 Ataxia OMIM:216360 RPGRIP1L 23322 HP:0001409 Portal hypertension OMIM:216360 RPGRIP1L 23322 HP:0000588 Optic nerve coloboma OMIM:216360 RPGRIP1L 23322 HP:0004299 Hernia of the abdominal wall OMIM:216360 RPGRIP1L 23322 HP:0002311 Incoordination OMIM:216360 RPGRIP1L 23322 HP:0001252 Muscular hypotonia OMIM:216360 RPGRIP1L 23322 HP:0001263 Global developmental delay OMIM:216360 RPGRIP1L 23322 HP:0000238 Hydrocephalus OMIM:216360 RPGRIP1L 23322 HP:0100626 Chronic hepatic failure OMIM:216360 RPGRIP1L 23322 HP:0001257 Spasticity OMIM:216360 RPGRIP1L 23322 HP:0002085 Occipital encephalocele OMIM:216360 RPGRIP1L 23322 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:216360 RPGRIP1L 23322 HP:0000154 Wide mouth OMIM:216360 RPGRIP1L 23322 HP:0000426 Prominent nasal bridge OMIM:216360 RPGRIP1L 23322 HP:0001337 Tremor OMIM:216360 RPGRIP1L 23322 HP:0000368 Low-set, posteriorly rotated ears OMIM:216360 RPGRIP1L 23322 HP:0000007 Autosomal recessive inheritance OMIM:216360 RPGRIP1L 23322 HP:0002419 Molar tooth sign on MRI OMIM:216360 RPGRIP1L 23322 HP:0000112 Nephropathy OMIM:216360 RPGRIP1L 23322 HP:0001425 Heterogeneous OMIM:216360 RPGRIP1L 23322 HP:0002553 Highly arched eyebrow OMIM:216360 RPGRIP1L 23322 HP:0002084 Encephalocele OMIM:216360 RPGRIP1L 23322 HP:0000003 Multicystic kidney dysplasia OMIM:216360 RPGRIP1L 23322 HP:0000202 Oral cleft OMIM:216360 RPGRIP1L 23322 HP:0002896 Neoplasm of the liver OMIM:216360 RPGRIP1L 23322 HP:0001320 Cerebellar vermis hypoplasia OMIM:216360 RPGRIP1L 23322 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:216360 RPGRIP1L 23322 HP:0002104 Apnea OMIM:216360 CC2D2A 57545 HP:0000316 Hypertelorism OMIM:216360 CC2D2A 57545 HP:0000639 Nystagmus OMIM:216360 CC2D2A 57545 HP:0002342 Intellectual disability, moderate OMIM:216360 CC2D2A 57545 HP:0001510 Growth delay OMIM:216360 CC2D2A 57545 HP:0001162 Postaxial hand polydactyly OMIM:216360 CC2D2A 57545 HP:0002650 Scoliosis OMIM:216360 CC2D2A 57545 HP:0000090 Nephronophthisis OMIM:216360 CC2D2A 57545 HP:0000311 Round face OMIM:216360 CC2D2A 57545 HP:0000864 Abnormality of the hypothalamus-pituitary axis OMIM:216360 CC2D2A 57545 HP:0000508 Ptosis OMIM:216360 CC2D2A 57545 HP:0000657 Oculomotor apraxia OMIM:216360 CC2D2A 57545 HP:0000083 Renal insufficiency OMIM:216360 CC2D2A 57545 HP:0000567 Chorioretinal coloboma OMIM:216360 CC2D2A 57545 HP:0000486 Strabismus OMIM:216360 CC2D2A 57545 HP:0002240 Hepatomegaly OMIM:216360 CC2D2A 57545 HP:0001347 Hyperreflexia OMIM:216360 CC2D2A 57545 HP:0008659 Multiple small medullary renal cysts OMIM:216360 CC2D2A 57545 HP:0001395 Hepatic fibrosis OMIM:216360 CC2D2A 57545 HP:0000505 Visual impairment OMIM:216360 CC2D2A 57545 HP:0001250 Seizures OMIM:216360 CC2D2A 57545 HP:0002910 Elevated hepatic transaminases OMIM:216360 CC2D2A 57545 HP:0001394 Cirrhosis OMIM:216360 CC2D2A 57545 HP:0000341 Narrow forehead OMIM:216360 CC2D2A 57545 HP:0008872 Feeding difficulties in infancy OMIM:216360 CC2D2A 57545 HP:0000589 Coloboma OMIM:216360 CC2D2A 57545 HP:0001288 Gait disturbance OMIM:216360 CC2D2A 57545 HP:0000163 Abnormality of the oral cavity OMIM:216360 CC2D2A 57545 HP:0001080 Biliary tract abnormality OMIM:216360 CC2D2A 57545 HP:0002269 Abnormality of neuronal migration OMIM:216360 CC2D2A 57545 HP:0002612 Congenital hepatic fibrosis OMIM:216360 CC2D2A 57545 HP:0000256 Macrocephaly OMIM:216360 CC2D2A 57545 HP:0000276 Long face OMIM:216360 CC2D2A 57545 HP:0000612 Iris coloboma OMIM:216360 CC2D2A 57545 HP:0100543 Cognitive impairment OMIM:216360 CC2D2A 57545 HP:0000463 Anteverted nares OMIM:216360 CC2D2A 57545 HP:0001744 Splenomegaly OMIM:216360 CC2D2A 57545 HP:0003593 Infantile onset OMIM:216360 CC2D2A 57545 HP:0001251 Ataxia OMIM:216360 CC2D2A 57545 HP:0001409 Portal hypertension OMIM:216360 CC2D2A 57545 HP:0000588 Optic nerve coloboma OMIM:216360 CC2D2A 57545 HP:0004299 Hernia of the abdominal wall OMIM:216360 CC2D2A 57545 HP:0002311 Incoordination OMIM:216360 CC2D2A 57545 HP:0001252 Muscular hypotonia OMIM:216360 CC2D2A 57545 HP:0001263 Global developmental delay OMIM:216360 CC2D2A 57545 HP:0000238 Hydrocephalus OMIM:216360 CC2D2A 57545 HP:0100626 Chronic hepatic failure OMIM:216360 CC2D2A 57545 HP:0001257 Spasticity OMIM:216360 CC2D2A 57545 HP:0002085 Occipital encephalocele OMIM:216360 CC2D2A 57545 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:216360 CC2D2A 57545 HP:0000154 Wide mouth OMIM:216360 CC2D2A 57545 HP:0000426 Prominent nasal bridge OMIM:216360 CC2D2A 57545 HP:0001337 Tremor OMIM:216360 CC2D2A 57545 HP:0000368 Low-set, posteriorly rotated ears OMIM:216360 CC2D2A 57545 HP:0000007 Autosomal recessive inheritance OMIM:216360 CC2D2A 57545 HP:0002419 Molar tooth sign on MRI OMIM:216360 CC2D2A 57545 HP:0000112 Nephropathy OMIM:216360 CC2D2A 57545 HP:0001425 Heterogeneous OMIM:216360 CC2D2A 57545 HP:0002553 Highly arched eyebrow OMIM:216360 CC2D2A 57545 HP:0002084 Encephalocele OMIM:216360 CC2D2A 57545 HP:0000003 Multicystic kidney dysplasia OMIM:216360 CC2D2A 57545 HP:0000202 Oral cleft OMIM:216360 CC2D2A 57545 HP:0002896 Neoplasm of the liver OMIM:216360 CC2D2A 57545 HP:0001320 Cerebellar vermis hypoplasia OMIM:216360 CC2D2A 57545 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:216360 CC2D2A 57545 HP:0002104 Apnea OMIM:612621 SYNGAP1 8831 HP:0001263 Global developmental delay OMIM:612621 SYNGAP1 8831 HP:0001270 Motor delay OMIM:612621 SYNGAP1 8831 HP:0000252 Microcephaly OMIM:612621 SYNGAP1 8831 HP:0000473 Torticollis OMIM:612621 SYNGAP1 8831 HP:0001252 Muscular hypotonia OMIM:612621 SYNGAP1 8831 HP:0002376 Developmental regression OMIM:612621 SYNGAP1 8831 HP:0200134 Epileptic encephalopathy OMIM:612621 SYNGAP1 8831 HP:0001249 Intellectual disability OMIM:612621 SYNGAP1 8831 HP:0002353 EEG abnormality OMIM:612621 SYNGAP1 8831 HP:0002463 Language impairment OMIM:612621 SYNGAP1 8831 HP:0001250 Seizures OMIM:612621 SYNGAP1 8831 HP:0000729 Autistic behavior OMIM:612621 SYNGAP1 8831 HP:0000006 Autosomal dominant inheritance OMIM:615351 GMPPB 29925 HP:0000508 Ptosis OMIM:615351 GMPPB 29925 HP:0011968 Feeding difficulties OMIM:615351 GMPPB 29925 HP:0001250 Seizures OMIM:615351 GMPPB 29925 HP:0000518 Cataract OMIM:615351 GMPPB 29925 HP:0000007 Autosomal recessive inheritance OMIM:615351 GMPPB 29925 HP:0001558 Decreased fetal movement OMIM:615351 GMPPB 29925 HP:0003828 Variable expressivity OMIM:615351 GMPPB 29925 HP:0000252 Microcephaly OMIM:615351 GMPPB 29925 HP:0000639 Nystagmus OMIM:615351 GMPPB 29925 HP:0001263 Global developmental delay OMIM:615351 GMPPB 29925 HP:0001657 Prolonged QT interval OMIM:615351 GMPPB 29925 HP:0001252 Muscular hypotonia OMIM:615351 GMPPB 29925 HP:0001344 Absent speech OMIM:615351 GMPPB 29925 HP:0001321 Cerebellar hypoplasia OMIM:615351 GMPPB 29925 HP:0002421 Poor head control OMIM:615351 GMPPB 29925 HP:0002058 Myopathic facies OMIM:615351 GMPPB 29925 HP:0000486 Strabismus OMIM:615351 GMPPB 29925 HP:0001249 Intellectual disability OMIM:615351 GMPPB 29925 HP:0003741 Congenital muscular dystrophy OMIM:615351 GMPPB 29925 HP:0001371 Flexion contracture OMIM:615351 GMPPB 29925 HP:0003236 Elevated serum creatine phosphokinase OMIM:612783 STIM1 6786 HP:0003198 Myopathy OMIM:612783 STIM1 6786 HP:0002718 Recurrent bacterial infections OMIM:612783 STIM1 6786 HP:0002721 Immunodeficiency OMIM:612783 STIM1 6786 HP:0001890 Autoimmune hemolytic anemia OMIM:612783 STIM1 6786 HP:0007676 Hypoplasia of the iris OMIM:612783 STIM1 6786 HP:0001873 Thrombocytopenia OMIM:612783 STIM1 6786 HP:0001252 Muscular hypotonia OMIM:612783 STIM1 6786 HP:0000007 Autosomal recessive inheritance OMIM:612783 STIM1 6786 HP:0002716 Lymphadenopathy OMIM:612783 STIM1 6786 HP:0001954 Episodic fever OMIM:202700 ELANE 1991 HP:0001903 Anemia OMIM:202700 ELANE 1991 HP:0010702 Hypergammaglobulinemia OMIM:202700 ELANE 1991 HP:0012311 Monocytosis OMIM:202700 ELANE 1991 HP:0001875 Neutropenia OMIM:202700 ELANE 1991 HP:0004845 Acute monocytic leukemia OMIM:202700 ELANE 1991 HP:0005541 Congenital agranulocytosis OMIM:202700 ELANE 1991 HP:0000006 Autosomal dominant inheritance OMIM:202700 ELANE 1991 HP:0001894 Thrombocytosis OMIM:202700 ELANE 1991 HP:0000007 Autosomal recessive inheritance OMIM:202700 ELANE 1991 HP:0003593 Infantile onset OMIM:202700 ELANE 1991 HP:0001880 Eosinophilia OMIM:202700 ELANE 1991 HP:0001507 Growth abnormality OMIM:202700 ELANE 1991 HP:0002718 Recurrent bacterial infections ORPHANET:2908 FERMT1 55612 HP:0000958 Dry skin ORPHANET:2908 FERMT1 55612 HP:0001903 Anemia ORPHANET:2908 FERMT1 55612 HP:0000230 Gingivitis ORPHANET:2908 FERMT1 55612 HP:0004295 Abnormality of the gastric mucosa ORPHANET:2908 FERMT1 55612 HP:0000982 Palmoplantar keratoderma ORPHANET:2908 FERMT1 55612 HP:0008872 Feeding difficulties in infancy ORPHANET:2908 FERMT1 55612 HP:0100825 Cheilitis ORPHANET:2908 FERMT1 55612 HP:0000987 Atypical scarring of skin ORPHANET:2908 FERMT1 55612 HP:0100587 Abnormality of the preputium ORPHANET:2908 FERMT1 55612 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:2908 FERMT1 55612 HP:0008066 Abnormal blistering of the skin ORPHANET:2908 FERMT1 55612 HP:0008388 Abnormality of the toenails ORPHANET:2908 FERMT1 55612 HP:0002648 Abnormality of calvarial morphology ORPHANET:2908 FERMT1 55612 HP:0000492 Abnormality of the eyelid ORPHANET:2908 FERMT1 55612 HP:0000992 Cutaneous photosensitivity ORPHANET:2908 FERMT1 55612 HP:0007759 Opacification of the corneal stroma ORPHANET:2908 FERMT1 55612 HP:0001163 Abnormality of the metacarpal bones ORPHANET:2908 FERMT1 55612 HP:0100490 Camptodactyly of finger ORPHANET:2908 FERMT1 55612 HP:0000682 Abnormality of dental enamel ORPHANET:2908 FERMT1 55612 HP:0002037 Inflammation of the large intestine ORPHANET:2908 FERMT1 55612 HP:0001600 Abnormality of the larynx ORPHANET:2908 FERMT1 55612 HP:0002575 Tracheoesophageal fistula ORPHANET:2908 FERMT1 55612 HP:0001029 Poikiloderma ORPHANET:2908 FERMT1 55612 HP:0100533 Inflammatory abnormality of the eye ORPHANET:2908 FERMT1 55612 HP:0000772 Abnormality of the ribs ORPHANET:2908 FERMT1 55612 HP:0000795 Abnormality of the urethra ORPHANET:2908 FERMT1 55612 HP:0006101 Finger syndactyly ORPHANET:2908 FERMT1 55612 HP:0200042 Skin ulcer ORPHANET:2908 FERMT1 55612 HP:0010786 Urinary tract neoplasm ORPHANET:2908 FERMT1 55612 HP:0000670 Carious teeth ORPHANET:2908 FERMT1 55612 HP:0000704 Periodontitis ORPHANET:2908 FERMT1 55612 HP:0006323 Premature loss of primary teeth ORPHANET:2908 FERMT1 55612 HP:0008069 Neoplasm of the skin ORPHANET:2908 FERMT1 55612 HP:0001000 Abnormality of skin pigmentation ORPHANET:171829 SIM1 6492 HP:0000717 Autism ORPHANET:171829 SIM1 6492 HP:0002564 Malformation of the heart and great vessels ORPHANET:171829 SIM1 6492 HP:0000400 Macrotia ORPHANET:171829 SIM1 6492 HP:0001156 Brachydactyly syndrome ORPHANET:171829 SIM1 6492 HP:0002167 Neurological speech impairment ORPHANET:171829 SIM1 6492 HP:0004322 Short stature ORPHANET:171829 SIM1 6492 HP:0000252 Microcephaly ORPHANET:171829 SIM1 6492 HP:0001252 Muscular hypotonia ORPHANET:171829 SIM1 6492 HP:0001513 Obesity ORPHANET:171829 SIM1 6492 HP:0000316 Hypertelorism ORPHANET:171829 SIM1 6492 HP:0000293 Full cheeks ORPHANET:171829 SIM1 6492 HP:0002648 Abnormality of calvarial morphology ORPHANET:171829 SIM1 6492 HP:0000311 Round face ORPHANET:171829 SIM1 6492 HP:0000545 Myopia ORPHANET:171829 SIM1 6492 HP:0000256 Macrocephaly ORPHANET:171829 SIM1 6492 HP:0000174 Abnormality of the palate ORPHANET:171829 SIM1 6492 HP:0000164 Abnormality of the teeth ORPHANET:171829 SIM1 6492 HP:0000426 Prominent nasal bridge ORPHANET:171829 SIM1 6492 HP:0000347 Micrognathia ORPHANET:171829 SIM1 6492 HP:0001182 Tapered finger ORPHANET:171829 SIM1 6492 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:171829 SIM1 6492 HP:0004209 Clinodactyly of the 5th finger ORPHANET:171829 SIM1 6492 HP:0000581 Blepharophimosis ORPHANET:171829 SIM1 6492 HP:0100543 Cognitive impairment ORPHANET:171829 SIM1 6492 HP:0000286 Epicanthus ORPHANET:171829 SIM1 6492 HP:0002353 EEG abnormality ORPHANET:171829 SIM1 6492 HP:0000486 Strabismus ORPHANET:171829 SIM1 6492 HP:0000639 Nystagmus ORPHANET:171829 SIM1 6492 HP:0005105 Abnormal nasal morphology ORPHANET:171829 SIM1 6492 HP:0100738 Abnormal eating behavior ORPHANET:171829 SIM1 6492 HP:0007018 Attention deficit hyperactivity disorder OMIM:204100 RPE65 6121 HP:0007663 Decreased central vision OMIM:204100 RPE65 6121 HP:0001483 Eye poking OMIM:204100 RPE65 6121 HP:0001249 Intellectual disability OMIM:204100 RPE65 6121 HP:0000654 Decreased electroretinogram (ERG) amplitude OMIM:204100 RPE65 6121 HP:0000613 Photophobia OMIM:204100 RPE65 6121 HP:0001099 Fundus atrophy OMIM:204100 RPE65 6121 HP:0000580 Pigmentary retinopathy OMIM:204100 RPE65 6121 HP:0000007 Autosomal recessive inheritance OMIM:204100 RPE65 6121 HP:0001320 Cerebellar vermis hypoplasia OMIM:204100 RPE65 6121 HP:0000618 Blindness OMIM:204100 RPE65 6121 HP:0000518 Cataract OMIM:204100 RPE65 6121 HP:0000563 Keratoconus ORPHANET:79278 FECH 2235 HP:0001935 Microcytic anemia ORPHANET:79278 FECH 2235 HP:0000969 Edema ORPHANET:79278 FECH 2235 HP:0001025 Urticaria ORPHANET:79278 FECH 2235 HP:0000964 Eczema ORPHANET:79278 FECH 2235 HP:0001394 Cirrhosis ORPHANET:79278 FECH 2235 HP:0001080 Biliary tract abnormality ORPHANET:79278 FECH 2235 HP:0000992 Cutaneous photosensitivity ORPHANET:79278 ALAS2 212 HP:0001935 Microcytic anemia ORPHANET:79278 ALAS2 212 HP:0000969 Edema ORPHANET:79278 ALAS2 212 HP:0001025 Urticaria ORPHANET:79278 ALAS2 212 HP:0000964 Eczema ORPHANET:79278 ALAS2 212 HP:0001394 Cirrhosis ORPHANET:79278 ALAS2 212 HP:0001080 Biliary tract abnormality ORPHANET:79278 ALAS2 212 HP:0000992 Cutaneous photosensitivity OMIM:616204 GRID2 2895 HP:0001252 Muscular hypotonia OMIM:616204 GRID2 2895 HP:0001272 Cerebellar atrophy OMIM:616204 GRID2 2895 HP:0001371 Flexion contracture OMIM:616204 GRID2 2895 HP:0000639 Nystagmus OMIM:616204 GRID2 2895 HP:0001260 Dysarthria OMIM:616204 GRID2 2895 HP:0002465 Poor speech OMIM:616204 GRID2 2895 HP:0002075 Dysdiadochokinesis OMIM:616204 GRID2 2895 HP:0100543 Cognitive impairment OMIM:616204 GRID2 2895 HP:0001347 Hyperreflexia OMIM:616204 GRID2 2895 HP:0001310 Dysmetria OMIM:616204 GRID2 2895 HP:0003487 Babinski sign OMIM:616204 GRID2 2895 HP:0000543 Optic disc pallor OMIM:616204 GRID2 2895 HP:0000657 Oculomotor apraxia OMIM:616204 GRID2 2895 HP:0002078 Truncal ataxia OMIM:616204 GRID2 2895 HP:0000565 Esotropia OMIM:616204 GRID2 2895 HP:0001263 Global developmental delay OMIM:616204 GRID2 2895 HP:0002311 Incoordination OMIM:616204 GRID2 2895 HP:0002066 Gait ataxia OMIM:613875 CALR3 125972 HP:0000006 Autosomal dominant inheritance OMIM:613875 CALR3 125972 HP:0001670 Asymmetric septal hypertrophy OMIM:604145 TTN 7273 HP:0001644 Dilated cardiomyopathy OMIM:604145 TTN 7273 HP:0000006 Autosomal dominant inheritance ORPHANET:2792 PAX1 5075 HP:0000413 Atresia of the external auditory canal ORPHANET:2792 PAX1 5075 HP:0004322 Short stature ORPHANET:2792 PAX1 5075 HP:0002167 Neurological speech impairment ORPHANET:2792 PAX1 5075 HP:0005280 Depressed nasal bridge ORPHANET:2792 PAX1 5075 HP:0001276 Hypertonia ORPHANET:2792 PAX1 5075 HP:0008678 Renal hypoplasia/aplasia ORPHANET:2792 PAX1 5075 HP:0100543 Cognitive impairment ORPHANET:2792 PAX1 5075 HP:0000324 Facial asymmetry ORPHANET:2792 PAX1 5075 HP:0000174 Abnormality of the palate ORPHANET:2792 PAX1 5075 HP:0000463 Anteverted nares ORPHANET:2792 PAX1 5075 HP:0009738 Abnormality of the antihelix ORPHANET:2792 PAX1 5075 HP:0000912 Sprengel anomaly ORPHANET:2792 PAX1 5075 HP:0000400 Macrotia ORPHANET:2792 PAX1 5075 HP:0002750 Delayed skeletal maturation ORPHANET:2792 PAX1 5075 HP:0000405 Conductive hearing impairment ORPHANET:2792 PAX1 5075 HP:0000889 Abnormality of the clavicle ORPHANET:2792 PAX1 5075 HP:0007477 Abnormal dermatoglyphics ORPHANET:2792 PAX1 5075 HP:0000383 Abnormality of periauricular region ORPHANET:2792 PAX1 5075 HP:0001347 Hyperreflexia ORPHANET:2792 PAX1 5075 HP:0000293 Full cheeks ORPHANET:2792 EYA1 2138 HP:0000413 Atresia of the external auditory canal ORPHANET:2792 EYA1 2138 HP:0004322 Short stature ORPHANET:2792 EYA1 2138 HP:0002167 Neurological speech impairment ORPHANET:2792 EYA1 2138 HP:0005280 Depressed nasal bridge ORPHANET:2792 EYA1 2138 HP:0001276 Hypertonia ORPHANET:2792 EYA1 2138 HP:0008678 Renal hypoplasia/aplasia ORPHANET:2792 EYA1 2138 HP:0100543 Cognitive impairment ORPHANET:2792 EYA1 2138 HP:0000324 Facial asymmetry ORPHANET:2792 EYA1 2138 HP:0000174 Abnormality of the palate ORPHANET:2792 EYA1 2138 HP:0000463 Anteverted nares ORPHANET:2792 EYA1 2138 HP:0009738 Abnormality of the antihelix ORPHANET:2792 EYA1 2138 HP:0000912 Sprengel anomaly ORPHANET:2792 EYA1 2138 HP:0000400 Macrotia ORPHANET:2792 EYA1 2138 HP:0002750 Delayed skeletal maturation ORPHANET:2792 EYA1 2138 HP:0000405 Conductive hearing impairment ORPHANET:2792 EYA1 2138 HP:0000889 Abnormality of the clavicle ORPHANET:2792 EYA1 2138 HP:0007477 Abnormal dermatoglyphics ORPHANET:2792 EYA1 2138 HP:0000383 Abnormality of periauricular region ORPHANET:2792 EYA1 2138 HP:0001347 Hyperreflexia ORPHANET:2792 EYA1 2138 HP:0000293 Full cheeks OMIM:612281 NIPAL4 348938 HP:0000966 Hypohidrosis OMIM:612281 NIPAL4 348938 HP:0007479 Congenital nonbullous ichthyosiform erythroderma OMIM:612281 NIPAL4 348938 HP:0000656 Ectropion OMIM:612281 NIPAL4 348938 HP:0000007 Autosomal recessive inheritance OMIM:612281 NIPAL4 348938 HP:0001019 Erythroderma OMIM:612281 NIPAL4 348938 HP:0001036 Parakeratosis OMIM:612281 NIPAL4 348938 HP:0000982 Palmoplantar keratoderma OMIM:608380 CERKL 375298 HP:0000543 Optic disc pallor OMIM:608380 CERKL 375298 HP:0001133 Constricted visual fields OMIM:608380 CERKL 375298 HP:0000510 Retinitis pigmentosa OMIM:608380 CERKL 375298 HP:0000007 Autosomal recessive inheritance OMIM:608380 CERKL 375298 HP:0007843 Attenuation of retinal blood vessels OMIM:608380 CERKL 375298 HP:0000505 Visual impairment OMIM:608380 CERKL 375298 HP:0007688 Absent rod-and cone-mediated responses on ERG OMIM:612300 CD59 966 HP:0002922 Increased CSF protein OMIM:612300 CD59 966 HP:0001284 Areflexia OMIM:612300 CD59 966 HP:0004818 Paroxysmal nocturnal hemoglobinuria OMIM:612300 CD59 966 HP:0003690 Limb muscle weakness OMIM:612300 CD59 966 HP:0003202 Skeletal muscle atrophy OMIM:612300 CD59 966 HP:0000007 Autosomal recessive inheritance OMIM:612300 CD59 966 HP:0001878 Hemolytic anemia OMIM:612300 CD59 966 HP:0001252 Muscular hypotonia OMIM:606170 KAT6B 23522 HP:0006887 Intellectual disability, progressive OMIM:606170 KAT6B 23522 HP:0008694 Hypertrophic labia minora OMIM:606170 KAT6B 23522 HP:0000426 Prominent nasal bridge OMIM:606170 KAT6B 23522 HP:0000494 Downslanted palpebral fissures OMIM:606170 KAT6B 23522 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:606170 KAT6B 23522 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:606170 KAT6B 23522 HP:0000055 Abnormality of female external genitalia OMIM:606170 KAT6B 23522 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:606170 KAT6B 23522 HP:0000028 Cryptorchidism OMIM:606170 KAT6B 23522 HP:0002089 Pulmonary hypoplasia OMIM:606170 KAT6B 23522 HP:0000684 Delayed eruption of teeth OMIM:606170 KAT6B 23522 HP:0000368 Low-set, posteriorly rotated ears OMIM:606170 KAT6B 23522 HP:0000003 Multicystic kidney dysplasia OMIM:606170 KAT6B 23522 HP:0000252 Microcephaly OMIM:606170 KAT6B 23522 HP:0000007 Autosomal recessive inheritance OMIM:606170 KAT6B 23522 HP:0001156 Brachydactyly syndrome OMIM:606170 KAT6B 23522 HP:0002104 Apnea OMIM:606170 KAT6B 23522 HP:0002974 Radioulnar synostosis OMIM:606170 KAT6B 23522 HP:0002804 Arthrogryposis multiplex congenita OMIM:606170 KAT6B 23522 HP:0000365 Hearing impairment OMIM:606170 KAT6B 23522 HP:0005105 Abnormal nasal morphology OMIM:606170 KAT6B 23522 HP:0006443 Patellar aplasia OMIM:606170 KAT6B 23522 HP:0001252 Muscular hypotonia OMIM:606170 KAT6B 23522 HP:0000113 Polycystic kidney dysplasia OMIM:606170 KAT6B 23522 HP:0001762 Talipes equinovarus OMIM:606170 KAT6B 23522 HP:0001883 Talipes OMIM:606170 KAT6B 23522 HP:0000343 Long philtrum OMIM:606170 KAT6B 23522 HP:0000046 Scrotal hypoplasia OMIM:606170 KAT6B 23522 HP:0000445 Wide nose OMIM:606170 KAT6B 23522 HP:0001263 Global developmental delay OMIM:606170 KAT6B 23522 HP:0001274 Agenesis of corpus callosum OMIM:606170 KAT6B 23522 HP:0008665 Clitoral hypertrophy OMIM:606170 KAT6B 23522 HP:0002167 Neurological speech impairment OMIM:606170 KAT6B 23522 HP:0006380 Knee flexion contracture OMIM:606170 KAT6B 23522 HP:0030048 Colpocephaly OMIM:606170 KAT6B 23522 HP:0008823 Hypoplastic inferior pubic rami OMIM:606170 KAT6B 23522 HP:0000347 Micrognathia OMIM:606170 KAT6B 23522 HP:0002209 Sparse scalp hair OMIM:606170 KAT6B 23522 HP:0100543 Cognitive impairment OMIM:606170 KAT6B 23522 HP:0002015 Dysphagia OMIM:606170 KAT6B 23522 HP:0003273 Hip contracture OMIM:606170 KAT6B 23522 HP:0001374 Congenital hip dislocation OMIM:606170 KAT6B 23522 HP:0009803 Short phalanx of finger OMIM:606170 KAT6B 23522 HP:0002999 Patellar dislocation OMIM:606170 KAT6B 23522 HP:0001631 Defect in the atrial septum OMIM:606170 KAT6B 23522 HP:0000448 Prominent nose OMIM:606170 KAT6B 23522 HP:0000126 Hydronephrosis OMIM:606170 KAT6B 23522 HP:0007165 Periventricular gray matter heterotopia OMIM:606170 KAT6B 23522 HP:0001561 Polyhydramnios OMIM:606170 KAT6B 23522 HP:0000316 Hypertelorism OMIM:606170 KAT6B 23522 HP:0000054 Micropenis OMIM:606170 KAT6B 23522 HP:0004322 Short stature OMIM:606170 KAT6B 23522 HP:0011362 Abnormal hair quantity OMIM:606170 KAT6B 23522 HP:0000280 Coarse facial features OMIM:606170 KAT6B 23522 HP:0001601 Laryngomalacia OMIM:606170 KAT6B 23522 HP:0001629 Ventricular septal defect OMIM:606170 KAT6B 23522 HP:0003175 Hypoplastic ischia OMIM:606170 KAT6B 23522 HP:0001250 Seizures OMIM:606170 KAT6B 23522 HP:0002213 Fine hair OMIM:138800 DICER1 23405 HP:0000006 Autosomal dominant inheritance OMIM:138800 DICER1 23405 HP:0002895 Papillary thyroid carcinoma OMIM:138800 DICER1 23405 HP:0000866 Euthyroid multinodular goiter OMIM:108770 GJA5 2702 HP:0000006 Autosomal dominant inheritance OMIM:108770 GJA5 2702 HP:0006699 Ectopic supraventricular rhythms OMIM:108770 GJA5 2702 HP:0001706 Endocardial fibroelastosis OMIM:108770 GJA5 2702 HP:0011705 First degree atrioventricular block OMIM:108770 GJA5 2702 HP:0200127 Atrial cardiomyopathy OMIM:169100 TFAP2B 7021 HP:0001829 Foot polydactyly OMIM:169100 TFAP2B 7021 HP:0001770 Toe syndactyly OMIM:169100 TFAP2B 7021 HP:0000006 Autosomal dominant inheritance OMIM:169100 TFAP2B 7021 HP:0004209 Clinodactyly of the 5th finger OMIM:169100 TFAP2B 7021 HP:0002558 Supernumerary nipple OMIM:169100 TFAP2B 7021 HP:0009244 Distal/middle symphalangism of 5th finger OMIM:169100 TFAP2B 7021 HP:0002553 Highly arched eyebrow OMIM:169100 TFAP2B 7021 HP:0000316 Hypertelorism OMIM:169100 TFAP2B 7021 HP:0000179 Thick lower lip vermilion OMIM:169100 TFAP2B 7021 HP:0000269 Prominent occiput OMIM:169100 TFAP2B 7021 HP:0001161 Hand polydactyly OMIM:169100 TFAP2B 7021 HP:0004372 Reduced consciousness/confusion OMIM:169100 TFAP2B 7021 HP:0001643 Patent ductus arteriosus OMIM:169100 TFAP2B 7021 HP:0000365 Hearing impairment OMIM:169100 TFAP2B 7021 HP:0000411 Protruding ear OMIM:169100 TFAP2B 7021 HP:0000322 Short philtrum OMIM:169100 TFAP2B 7021 HP:0000207 Triangular mouth OMIM:169100 TFAP2B 7021 HP:0000369 Low-set ears OMIM:169100 TFAP2B 7021 HP:0000508 Ptosis OMIM:169100 TFAP2B 7021 HP:0001629 Ventricular septal defect OMIM:169100 TFAP2B 7021 HP:0000272 Malar flattening OMIM:169100 TFAP2B 7021 HP:0005280 Depressed nasal bridge OMIM:169100 TFAP2B 7021 HP:0001256 Intellectual disability, mild OMIM:169100 TFAP2B 7021 HP:0000232 Everted lower lip vermilion OMIM:169100 TFAP2B 7021 HP:0000494 Downslanted palpebral fissures OMIM:169100 TFAP2B 7021 HP:0100543 Cognitive impairment OMIM:169100 TFAP2B 7021 HP:0000457 Depressed nasal ridge OMIM:169100 TFAP2B 7021 HP:0000574 Thick eyebrow OMIM:169100 TFAP2B 7021 HP:0009773 Symphalangism affecting the phalanges of the hand OMIM:169100 TFAP2B 7021 HP:0000545 Myopia OMIM:169100 TFAP2B 7021 HP:0000486 Strabismus OMIM:169100 TFAP2B 7021 HP:0000337 Broad forehead OMIM:169100 TFAP2B 7021 HP:0000455 Broad nasal tip OMIM:169100 TFAP2B 7021 HP:0009804 Reduced number of teeth OMIM:164200 GJA1 2697 HP:0000187 Broad alveolar ridges OMIM:164200 GJA1 2697 HP:0001260 Dysarthria OMIM:164200 GJA1 2697 HP:0002827 Hip dislocation OMIM:164200 GJA1 2697 HP:0002273 Tetraparesis OMIM:164200 GJA1 2697 HP:0001251 Ataxia OMIM:164200 GJA1 2697 HP:0001808 Fragile nails OMIM:164200 GJA1 2697 HP:0000446 Narrow nasal bridge OMIM:164200 GJA1 2697 HP:0000286 Epicanthus OMIM:164200 GJA1 2697 HP:0012745 Short palpebral fissure OMIM:164200 GJA1 2697 HP:0001257 Spasticity OMIM:164200 GJA1 2697 HP:0000691 Microdontia OMIM:164200 GJA1 2697 HP:0000679 Taurodontia OMIM:164200 GJA1 2697 HP:0000482 Microcornea OMIM:164200 GJA1 2697 HP:0001592 Selective tooth agenesis OMIM:164200 GJA1 2697 HP:0000006 Autosomal dominant inheritance OMIM:164200 GJA1 2697 HP:0030084 Clinodactyly OMIM:164200 GJA1 2697 HP:0002385 Paraparesis OMIM:164200 GJA1 2697 HP:0002217 Slow-growing hair OMIM:164200 GJA1 2697 HP:0000670 Carious teeth OMIM:164200 GJA1 2697 HP:0009779 3-4 toe syndactyly OMIM:164200 GJA1 2697 HP:0006297 Hypoplasia of dental enamel OMIM:164200 GJA1 2697 HP:0004220 Short middle phalanx of the 5th finger OMIM:164200 GJA1 2697 HP:0001250 Seizures OMIM:164200 GJA1 2697 HP:0000518 Cataract OMIM:164200 GJA1 2697 HP:0002213 Fine hair OMIM:164200 GJA1 2697 HP:0001249 Intellectual disability OMIM:164200 GJA1 2697 HP:0011359 Dry hair OMIM:164200 GJA1 2697 HP:0000430 Underdeveloped nasal alae OMIM:164200 GJA1 2697 HP:0009183 Joint contracture of the 5th finger OMIM:164200 GJA1 2697 HP:0000581 Blepharophimosis OMIM:164200 GJA1 2697 HP:0001631 Defect in the atrial septum OMIM:164200 GJA1 2697 HP:0008070 Sparse hair OMIM:164200 GJA1 2697 HP:0011675 Arrhythmia OMIM:164200 GJA1 2697 HP:0000204 Cleft upper lip OMIM:164200 GJA1 2697 HP:0002500 Abnormality of the cerebral white matter OMIM:164200 GJA1 2697 HP:0002967 Cubitus valgus OMIM:164200 GJA1 2697 HP:0006480 Premature loss of teeth OMIM:164200 GJA1 2697 HP:0004495 Thin anteverted nares OMIM:164200 GJA1 2697 HP:0000405 Conductive hearing impairment OMIM:164200 GJA1 2697 HP:0008442 Vertebral hyperostosis OMIM:164200 GJA1 2697 HP:0000011 Neurogenic bladder OMIM:164200 GJA1 2697 HP:0000252 Microcephaly OMIM:164200 GJA1 2697 HP:0000568 Microphthalmos OMIM:164200 GJA1 2697 HP:0006801 Hyperactive deep tendon reflexes OMIM:164200 GJA1 2697 HP:0000175 Cleft palate OMIM:164200 GJA1 2697 HP:0010705 4-5 finger syndactyly OMIM:164200 GJA1 2697 HP:0000501 Glaucoma OMIM:164200 GJA1 2697 HP:0000377 Abnormality of the pinna OMIM:164200 GJA1 2697 HP:0002135 Basal ganglia calcification OMIM:607487 TCAP 8557 HP:0001716 Wolff-Parkinson-White syndrome OMIM:607487 TCAP 8557 HP:0001712 Left ventricular hypertrophy OMIM:607487 TCAP 8557 HP:0001644 Dilated cardiomyopathy OMIM:607487 TCAP 8557 HP:0000006 Autosomal dominant inheritance OMIM:173900 PKD1 5310 HP:0001425 Heterogeneous OMIM:173900 PKD1 5310 HP:0002253 Colonic diverticulosis OMIM:173900 PKD1 5310 HP:0004944 Cerebral aneurysm OMIM:173900 PKD1 5310 HP:0000083 Renal insufficiency OMIM:173900 PKD1 5310 HP:0000006 Autosomal dominant inheritance OMIM:173900 PKD1 5310 HP:0001407 Hepatic cysts OMIM:173900 PKD1 5310 HP:0001726 Increased prevalence of valvular disease OMIM:173900 PKD1 5310 HP:0000113 Polycystic kidney dysplasia OMIM:607595 COL4A1 1282 HP:0000575 Scotoma OMIM:607595 COL4A1 1282 HP:0000483 Astigmatism OMIM:607595 COL4A1 1282 HP:0001136 Retinal arteriolar tortuosity OMIM:607595 COL4A1 1282 HP:0000501 Glaucoma OMIM:607595 COL4A1 1282 HP:0007676 Hypoplasia of the iris OMIM:607595 COL4A1 1282 HP:0007957 Corneal opacity OMIM:607595 COL4A1 1282 HP:0000568 Microphthalmos OMIM:607595 COL4A1 1282 HP:0000545 Myopia OMIM:607595 COL4A1 1282 HP:0000006 Autosomal dominant inheritance OMIM:607595 COL4A1 1282 HP:0011500 Polycoria OMIM:607595 COL4A1 1282 HP:0001269 Hemiparesis OMIM:607595 COL4A1 1282 HP:0000541 Retinal detachment OMIM:607595 COL4A1 1282 HP:0000482 Microcornea OMIM:607595 COL4A1 1282 HP:0007894 Hypopigmentation of the fundus OMIM:607595 COL4A1 1282 HP:0000486 Strabismus OMIM:607595 COL4A1 1282 HP:0002077 Migraine with aura OMIM:607595 COL4A1 1282 HP:0001250 Seizures OMIM:607595 COL4A1 1282 HP:0009918 Ectopia pupillae OMIM:607595 COL4A1 1282 HP:0000622 Blurred vision OMIM:607595 COL4A1 1282 HP:0000646 Amblyopia OMIM:607595 COL4A1 1282 HP:0011496 Corneal neovascularization OMIM:607595 COL4A1 1282 HP:0000540 Hypermetropia OMIM:607595 COL4A1 1282 HP:0002132 Porencephaly OMIM:607595 COL4A1 1282 HP:0006859 Posterior leukoencephalopathy OMIM:607595 COL4A1 1282 HP:0001256 Intellectual disability, mild OMIM:607595 COL4A1 1282 HP:0000519 Congenital cataract OMIM:118400 SH3BP2 6452 HP:0006482 Abnormality of dental morphology OMIM:118400 SH3BP2 6452 HP:0009804 Reduced number of teeth OMIM:118400 SH3BP2 6452 HP:0011463 Childhood onset OMIM:118400 SH3BP2 6452 HP:0001065 Striae distensae OMIM:118400 SH3BP2 6452 HP:0000311 Round face OMIM:118400 SH3BP2 6452 HP:0002104 Apnea OMIM:118400 SH3BP2 6452 HP:0001608 Abnormality of the voice OMIM:118400 SH3BP2 6452 HP:0000006 Autosomal dominant inheritance OMIM:118400 SH3BP2 6452 HP:0200057 Marcus Gunn pupil OMIM:118400 SH3BP2 6452 HP:0200056 Macular scarring OMIM:118400 SH3BP2 6452 HP:0001138 Optic neuropathy OMIM:118400 SH3BP2 6452 HP:0000277 Abnormality of the mandible OMIM:118400 SH3BP2 6452 HP:0000505 Visual impairment OMIM:118400 SH3BP2 6452 HP:0010622 Neoplasm of the skeletal system OMIM:118400 SH3BP2 6452 HP:0000520 Proptosis OMIM:118400 SH3BP2 6452 HP:0000677 Oligodontia OMIM:118400 SH3BP2 6452 HP:0000648 Optic atrophy OMIM:118400 SH3BP2 6452 HP:0008872 Feeding difficulties in infancy OMIM:118400 SH3BP2 6452 HP:0001133 Constricted visual fields OMIM:188470 MINPP1 9562 HP:0006731 Follicular thyroid carcinoma OMIM:188470 MINPP1 9562 HP:0001939 Abnormality of metabolism/homeostasis OMIM:188470 MINPP1 9562 HP:0000006 Autosomal dominant inheritance OMIM:188470 PTEN 5728 HP:0006731 Follicular thyroid carcinoma OMIM:188470 PTEN 5728 HP:0001939 Abnormality of metabolism/homeostasis OMIM:188470 PTEN 5728 HP:0000006 Autosomal dominant inheritance OMIM:188470 NRAS 4893 HP:0006731 Follicular thyroid carcinoma OMIM:188470 NRAS 4893 HP:0001939 Abnormality of metabolism/homeostasis OMIM:188470 NRAS 4893 HP:0000006 Autosomal dominant inheritance OMIM:309300 CHRDL1 91851 HP:0001132 Lens subluxation OMIM:309300 CHRDL1 91851 HP:0000518 Cataract OMIM:309300 CHRDL1 91851 HP:0000483 Astigmatism OMIM:309300 CHRDL1 91851 HP:0011487 Increased corneal thickness OMIM:309300 CHRDL1 91851 HP:0001084 Corneal arcus OMIM:309300 CHRDL1 91851 HP:0100693 Iridodonesis OMIM:309300 CHRDL1 91851 HP:0001419 X-linked recessive inheritance OMIM:309300 CHRDL1 91851 HP:0007836 Mosaic corneal dystrophy OMIM:309300 CHRDL1 91851 HP:0000485 Megalocornea OMIM:615361 GNA11 2767 HP:0008897 Postnatal growth retardation OMIM:615361 GNA11 2767 HP:0002901 Hypocalcemia OMIM:615361 GNA11 2767 HP:0002135 Basal ganglia calcification OMIM:615361 GNA11 2767 HP:0003394 Muscle cramps OMIM:615361 GNA11 2767 HP:0000006 Autosomal dominant inheritance OMIM:615361 GNA11 2767 HP:0003401 Paresthesia OMIM:606069 SLC40A1 30061 HP:0001397 Hepatic steatosis OMIM:606069 SLC40A1 30061 HP:0011031 Abnormality of iron homeostasis OMIM:606069 SLC40A1 30061 HP:0001376 Limitation of joint mobility OMIM:606069 SLC40A1 30061 HP:0007440 Generalized hyperpigmentation OMIM:606069 SLC40A1 30061 HP:0001394 Cirrhosis OMIM:606069 SLC40A1 30061 HP:0002829 Arthralgia OMIM:606069 SLC40A1 30061 HP:0001386 Joint swelling OMIM:606069 SLC40A1 30061 HP:0002612 Congenital hepatic fibrosis OMIM:606069 SLC40A1 30061 HP:0002027 Abdominal pain OMIM:162500 PMP22 5376 HP:0000006 Autosomal dominant inheritance OMIM:162500 PMP22 5376 HP:0003481 Segmental peripheral demyelination/remyelination OMIM:162500 PMP22 5376 HP:0000762 Decreased nerve conduction velocity OMIM:162500 PMP22 5376 HP:0001265 Hyporeflexia OMIM:162500 PMP22 5376 HP:0001324 Muscle weakness OMIM:162500 PMP22 5376 HP:0001608 Abnormality of the voice OMIM:162500 PMP22 5376 HP:0001605 Vocal cord paralysis OMIM:162500 PMP22 5376 HP:0001315 Reduced tendon reflexes OMIM:162500 PMP22 5376 HP:0003401 Paresthesia OMIM:162500 PMP22 5376 HP:0002093 Respiratory insufficiency OMIM:162500 PMP22 5376 HP:0003431 Decreased motor nerve conduction velocity OMIM:162500 PMP22 5376 HP:0002650 Scoliosis OMIM:162500 PMP22 5376 HP:0006824 Cranial nerve paralysis OMIM:162500 PMP22 5376 HP:0001761 Pes cavus OMIM:606056 MOGS 7841 HP:0001399 Hepatic failure OMIM:606056 MOGS 7841 HP:0004313 Hypogammaglobulinemia OMIM:606056 MOGS 7841 HP:0008872 Feeding difficulties in infancy OMIM:606056 MOGS 7841 HP:0001188 Hand clenching OMIM:606056 MOGS 7841 HP:0000527 Long eyelashes OMIM:606056 MOGS 7841 HP:0000269 Prominent occiput OMIM:606056 MOGS 7841 HP:0000218 High palate OMIM:606056 MOGS 7841 HP:0001263 Global developmental delay OMIM:606056 MOGS 7841 HP:0001250 Seizures OMIM:606056 MOGS 7841 HP:0002943 Thoracic scoliosis OMIM:606056 MOGS 7841 HP:0000278 Retrognathia OMIM:606056 MOGS 7841 HP:0000407 Sensorineural hearing impairment OMIM:606056 MOGS 7841 HP:0010557 Overlapping fingers OMIM:606056 MOGS 7841 HP:0000445 Wide nose OMIM:606056 MOGS 7841 HP:0001252 Muscular hypotonia OMIM:606056 MOGS 7841 HP:0000648 Optic atrophy OMIM:606056 MOGS 7841 HP:0002791 Hypoventilation OMIM:606056 MOGS 7841 HP:0002079 Hypoplasia of the corpus callosum OMIM:606056 MOGS 7841 HP:0012745 Short palpebral fissure OMIM:606056 MOGS 7841 HP:0002059 Cerebral atrophy OMIM:606056 MOGS 7841 HP:0002757 Recurrent fractures OMIM:606056 MOGS 7841 HP:0000007 Autosomal recessive inheritance OMIM:606056 MOGS 7841 HP:0000581 Blepharophimosis OMIM:606056 MOGS 7841 HP:0002240 Hepatomegaly OMIM:612951 RNASET2 8635 HP:0002352 Leukoencephalopathy OMIM:612951 RNASET2 8635 HP:0000639 Nystagmus OMIM:612951 RNASET2 8635 HP:0011400 Abnormal CNS myelination OMIM:612951 RNASET2 8635 HP:0000252 Microcephaly OMIM:612951 RNASET2 8635 HP:0002119 Ventriculomegaly OMIM:612951 RNASET2 8635 HP:0001257 Spasticity OMIM:612951 RNASET2 8635 HP:0002305 Athetosis OMIM:612951 RNASET2 8635 HP:0000750 Delayed speech and language development OMIM:612951 RNASET2 8635 HP:0002514 Cerebral calcification OMIM:612951 RNASET2 8635 HP:0001250 Seizures OMIM:612951 RNASET2 8635 HP:0007042 Focal white matter lesions OMIM:612951 RNASET2 8635 HP:0000407 Sensorineural hearing impairment OMIM:612951 RNASET2 8635 HP:0001332 Dystonia OMIM:612951 RNASET2 8635 HP:0003677 Slow progression OMIM:612951 RNASET2 8635 HP:0003593 Infantile onset OMIM:612951 RNASET2 8635 HP:0001251 Ataxia OMIM:612951 RNASET2 8635 HP:0000295 Doll-like facies OMIM:612951 RNASET2 8635 HP:0011344 Severe global developmental delay OMIM:612951 RNASET2 8635 HP:0002465 Poor speech OMIM:612951 RNASET2 8635 HP:0000007 Autosomal recessive inheritance OMIM:610759 SMC3 9126 HP:0001007 Hirsutism OMIM:610759 SMC3 9126 HP:0004322 Short stature OMIM:610759 SMC3 9126 HP:0009623 Proximal placement of thumb OMIM:610759 SMC3 9126 HP:0200055 Small hand OMIM:610759 SMC3 9126 HP:0000545 Myopia OMIM:610759 SMC3 9126 HP:0002553 Highly arched eyebrow OMIM:610759 SMC3 9126 HP:0002996 Limited elbow movement OMIM:610759 SMC3 9126 HP:0000527 Long eyelashes OMIM:610759 SMC3 9126 HP:0000664 Synophrys OMIM:610759 SMC3 9126 HP:0004209 Clinodactyly of the 5th finger OMIM:610759 SMC3 9126 HP:0002020 Gastroesophageal reflux OMIM:610759 SMC3 9126 HP:0000233 Thin vermilion border OMIM:610759 SMC3 9126 HP:0000426 Prominent nasal bridge OMIM:610759 SMC3 9126 HP:0001263 Global developmental delay OMIM:610759 SMC3 9126 HP:0008872 Feeding difficulties in infancy OMIM:610759 SMC3 9126 HP:0001773 Short foot OMIM:610759 SMC3 9126 HP:0001249 Intellectual disability OMIM:610759 SMC3 9126 HP:0000218 High palate OMIM:233400 HSD17B4 3295 HP:0001264 Spastic diplegia OMIM:233400 HSD17B4 3295 HP:0100543 Cognitive impairment OMIM:233400 HSD17B4 3295 HP:0001270 Motor delay OMIM:233400 HSD17B4 3295 HP:0000639 Nystagmus OMIM:233400 HSD17B4 3295 HP:0000786 Primary amenorrhea OMIM:233400 HSD17B4 3295 HP:0002650 Scoliosis OMIM:233400 HSD17B4 3295 HP:0001761 Pes cavus OMIM:233400 HSD17B4 3295 HP:0000007 Autosomal recessive inheritance OMIM:233400 HSD17B4 3295 HP:0001762 Talipes equinovarus OMIM:233400 HSD17B4 3295 HP:0000407 Sensorineural hearing impairment OMIM:233400 HSD17B4 3295 HP:0001265 Hyporeflexia OMIM:233400 HSD17B4 3295 HP:0000133 Gonadal dysgenesis OMIM:233400 HSD17B4 3295 HP:0001272 Cerebellar atrophy OMIM:233400 HSD17B4 3295 HP:0007141 Sensorimotor neuropathy OMIM:233400 HSD17B4 3295 HP:0003812 Phenotypic variability OMIM:233400 HSD17B4 3295 HP:0001284 Areflexia OMIM:233400 HSD17B4 3295 HP:0001260 Dysarthria OMIM:233400 HSD17B4 3295 HP:0002066 Gait ataxia OMIM:233400 HSD17B4 3295 HP:0000837 Increased circulating gonadotropin level OMIM:233400 HSD17B4 3295 HP:0004322 Short stature OMIM:233400 HSD17B4 3295 HP:0000939 Osteoporosis OMIM:233400 HSD17B4 3295 HP:0007941 Limited extraocular movements OMIM:233400 HSD17B4 3295 HP:0000218 High palate OMIM:614229 SYT14 255928 HP:0002078 Truncal ataxia OMIM:614229 SYT14 255928 HP:0002070 Limb ataxia OMIM:614229 SYT14 255928 HP:0001260 Dysarthria OMIM:614229 SYT14 255928 HP:0007772 Impaired smooth pursuit OMIM:614229 SYT14 255928 HP:0001272 Cerebellar atrophy OMIM:614229 SYT14 255928 HP:0000639 Nystagmus OMIM:614229 SYT14 255928 HP:0003677 Slow progression OMIM:614229 SYT14 255928 HP:0002015 Dysphagia OMIM:614229 SYT14 255928 HP:0000007 Autosomal recessive inheritance ORPHANET:3107 DVL1 1855 HP:0000768 Pectus carinatum ORPHANET:3107 DVL1 1855 HP:0001537 Umbilical hernia ORPHANET:3107 DVL1 1855 HP:0003272 Abnormality of the hip bone ORPHANET:3107 DVL1 1855 HP:0000055 Abnormality of female external genitalia ORPHANET:3107 DVL1 1855 HP:0010297 Bifid tongue ORPHANET:3107 DVL1 1855 HP:0000212 Gingival overgrowth ORPHANET:3107 DVL1 1855 HP:0000174 Abnormality of the palate ORPHANET:3107 DVL1 1855 HP:0004322 Short stature ORPHANET:3107 DVL1 1855 HP:0000520 Proptosis ORPHANET:3107 DVL1 1855 HP:0000286 Epicanthus ORPHANET:3107 DVL1 1855 HP:0002263 Exaggerated cupid's bow ORPHANET:3107 DVL1 1855 HP:0002007 Frontal bossing ORPHANET:3107 DVL1 1855 HP:0000272 Malar flattening ORPHANET:3107 DVL1 1855 HP:0002564 Malformation of the heart and great vessels ORPHANET:3107 DVL1 1855 HP:0006101 Finger syndactyly ORPHANET:3107 DVL1 1855 HP:0000486 Strabismus ORPHANET:3107 DVL1 1855 HP:0000256 Macrocephaly ORPHANET:3107 DVL1 1855 HP:0000347 Micrognathia ORPHANET:3107 DVL1 1855 HP:0000343 Long philtrum ORPHANET:3107 DVL1 1855 HP:0003422 Vertebral segmentation defect ORPHANET:3107 DVL1 1855 HP:0002205 Recurrent respiratory infections ORPHANET:3107 DVL1 1855 HP:0000463 Anteverted nares ORPHANET:3107 DVL1 1855 HP:0003196 Short nose ORPHANET:3107 DVL1 1855 HP:0000767 Pectus excavatum ORPHANET:3107 DVL1 1855 HP:0002714 Downturned corners of mouth ORPHANET:3107 DVL1 1855 HP:0003042 Elbow dislocation ORPHANET:3107 DVL1 1855 HP:0100490 Camptodactyly of finger ORPHANET:3107 DVL1 1855 HP:0000689 Dental malocclusion ORPHANET:3107 DVL1 1855 HP:0000003 Multicystic kidney dysplasia ORPHANET:3107 DVL1 1855 HP:0000499 Abnormality of the eyelashes ORPHANET:3107 DVL1 1855 HP:0100627 Displacement of the external urethral meatus ORPHANET:3107 DVL1 1855 HP:0000202 Oral cleft ORPHANET:3107 DVL1 1855 HP:0004397 Ectopic anus ORPHANET:3107 DVL1 1855 HP:0000494 Downslanted palpebral fissures ORPHANET:3107 DVL1 1855 HP:0000316 Hypertelorism ORPHANET:3107 DVL1 1855 HP:0000322 Short philtrum ORPHANET:3107 DVL1 1855 HP:0001156 Brachydactyly syndrome ORPHANET:3107 DVL1 1855 HP:0000592 Blue sclerae ORPHANET:3107 DVL1 1855 HP:0001231 Abnormality of the fingernails ORPHANET:3107 DVL1 1855 HP:0000028 Cryptorchidism ORPHANET:3107 DVL1 1855 HP:0000960 Sacral dimple ORPHANET:3107 DVL1 1855 HP:0000582 Upslanted palpebral fissure ORPHANET:3107 DVL1 1855 HP:0000508 Ptosis ORPHANET:3107 DVL1 1855 HP:0000470 Short neck ORPHANET:3107 DVL1 1855 HP:0000637 Long palpebral fissure ORPHANET:3107 DVL1 1855 HP:0000365 Hearing impairment ORPHANET:3107 DVL1 1855 HP:0008736 Hypoplasia of penis ORPHANET:3107 DVL1 1855 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:3107 DVL1 1855 HP:0011069 Increased number of teeth ORPHANET:3107 DVL1 1855 HP:0001596 Alopecia ORPHANET:3107 DVL1 1855 HP:0004209 Clinodactyly of the 5th finger ORPHANET:3107 DVL1 1855 HP:0002650 Scoliosis ORPHANET:3107 DVL1 1855 HP:0002983 Micromelia ORPHANET:3107 DVL1 1855 HP:0005280 Depressed nasal bridge ORPHANET:3107 DVL1 1855 HP:0100543 Cognitive impairment ORPHANET:3107 DVL1 1855 HP:0009804 Reduced number of teeth ORPHANET:3107 WNT5A 7474 HP:0000768 Pectus carinatum ORPHANET:3107 WNT5A 7474 HP:0001537 Umbilical hernia ORPHANET:3107 WNT5A 7474 HP:0003272 Abnormality of the hip bone ORPHANET:3107 WNT5A 7474 HP:0000055 Abnormality of female external genitalia ORPHANET:3107 WNT5A 7474 HP:0010297 Bifid tongue ORPHANET:3107 WNT5A 7474 HP:0000212 Gingival overgrowth ORPHANET:3107 WNT5A 7474 HP:0000174 Abnormality of the palate ORPHANET:3107 WNT5A 7474 HP:0004322 Short stature ORPHANET:3107 WNT5A 7474 HP:0000520 Proptosis ORPHANET:3107 WNT5A 7474 HP:0000286 Epicanthus ORPHANET:3107 WNT5A 7474 HP:0002263 Exaggerated cupid's bow ORPHANET:3107 WNT5A 7474 HP:0002007 Frontal bossing ORPHANET:3107 WNT5A 7474 HP:0000272 Malar flattening ORPHANET:3107 WNT5A 7474 HP:0002564 Malformation of the heart and great vessels ORPHANET:3107 WNT5A 7474 HP:0006101 Finger syndactyly ORPHANET:3107 WNT5A 7474 HP:0000486 Strabismus ORPHANET:3107 WNT5A 7474 HP:0000256 Macrocephaly ORPHANET:3107 WNT5A 7474 HP:0000347 Micrognathia ORPHANET:3107 WNT5A 7474 HP:0000343 Long philtrum ORPHANET:3107 WNT5A 7474 HP:0003422 Vertebral segmentation defect ORPHANET:3107 WNT5A 7474 HP:0002205 Recurrent respiratory infections ORPHANET:3107 WNT5A 7474 HP:0000463 Anteverted nares ORPHANET:3107 WNT5A 7474 HP:0003196 Short nose ORPHANET:3107 WNT5A 7474 HP:0000767 Pectus excavatum ORPHANET:3107 WNT5A 7474 HP:0002714 Downturned corners of mouth ORPHANET:3107 WNT5A 7474 HP:0003042 Elbow dislocation ORPHANET:3107 WNT5A 7474 HP:0100490 Camptodactyly of finger ORPHANET:3107 WNT5A 7474 HP:0000689 Dental malocclusion ORPHANET:3107 WNT5A 7474 HP:0000003 Multicystic kidney dysplasia ORPHANET:3107 WNT5A 7474 HP:0000499 Abnormality of the eyelashes ORPHANET:3107 WNT5A 7474 HP:0100627 Displacement of the external urethral meatus ORPHANET:3107 WNT5A 7474 HP:0000202 Oral cleft ORPHANET:3107 WNT5A 7474 HP:0004397 Ectopic anus ORPHANET:3107 WNT5A 7474 HP:0000494 Downslanted palpebral fissures ORPHANET:3107 WNT5A 7474 HP:0000316 Hypertelorism ORPHANET:3107 WNT5A 7474 HP:0000322 Short philtrum ORPHANET:3107 WNT5A 7474 HP:0001156 Brachydactyly syndrome ORPHANET:3107 WNT5A 7474 HP:0000592 Blue sclerae ORPHANET:3107 WNT5A 7474 HP:0001231 Abnormality of the fingernails ORPHANET:3107 WNT5A 7474 HP:0000028 Cryptorchidism ORPHANET:3107 WNT5A 7474 HP:0000960 Sacral dimple ORPHANET:3107 WNT5A 7474 HP:0000582 Upslanted palpebral fissure ORPHANET:3107 WNT5A 7474 HP:0000508 Ptosis ORPHANET:3107 WNT5A 7474 HP:0000470 Short neck ORPHANET:3107 WNT5A 7474 HP:0000637 Long palpebral fissure ORPHANET:3107 WNT5A 7474 HP:0000365 Hearing impairment ORPHANET:3107 WNT5A 7474 HP:0008736 Hypoplasia of penis ORPHANET:3107 WNT5A 7474 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:3107 WNT5A 7474 HP:0011069 Increased number of teeth ORPHANET:3107 WNT5A 7474 HP:0001596 Alopecia ORPHANET:3107 WNT5A 7474 HP:0004209 Clinodactyly of the 5th finger ORPHANET:3107 WNT5A 7474 HP:0002650 Scoliosis ORPHANET:3107 WNT5A 7474 HP:0002983 Micromelia ORPHANET:3107 WNT5A 7474 HP:0005280 Depressed nasal bridge ORPHANET:3107 WNT5A 7474 HP:0100543 Cognitive impairment ORPHANET:3107 WNT5A 7474 HP:0009804 Reduced number of teeth OMIM:614035 CLDN14 23562 HP:0000365 Hearing impairment OMIM:614035 CLDN14 23562 HP:0000007 Autosomal recessive inheritance OMIM:614487 AFG3L2 10939 HP:0002313 Spastic paraparesis OMIM:614487 AFG3L2 10939 HP:0003202 Skeletal muscle atrophy OMIM:614487 AFG3L2 10939 HP:0001336 Myoclonus OMIM:614487 AFG3L2 10939 HP:0002497 Spastic ataxia OMIM:614487 AFG3L2 10939 HP:0001332 Dystonia OMIM:614487 AFG3L2 10939 HP:0002015 Dysphagia OMIM:614487 AFG3L2 10939 HP:0003593 Infantile onset OMIM:614487 AFG3L2 10939 HP:0003676 Progressive disorder OMIM:614487 AFG3L2 10939 HP:0012240 Increased intramyocellular lipid droplets OMIM:614487 AFG3L2 10939 HP:0000657 Oculomotor apraxia OMIM:614487 AFG3L2 10939 HP:0001260 Dysarthria OMIM:614487 AFG3L2 10939 HP:0001310 Dysmetria OMIM:614487 AFG3L2 10939 HP:0001272 Cerebellar atrophy OMIM:614487 AFG3L2 10939 HP:0001324 Muscle weakness OMIM:614487 AFG3L2 10939 HP:0002069 Generalized tonic-clonic seizures OMIM:614487 AFG3L2 10939 HP:0007141 Sensorimotor neuropathy OMIM:614487 AFG3L2 10939 HP:0002123 Generalized myoclonic seizures OMIM:614487 AFG3L2 10939 HP:0000508 Ptosis OMIM:614487 AFG3L2 10939 HP:0002075 Dysdiadochokinesis OMIM:614487 AFG3L2 10939 HP:0000007 Autosomal recessive inheritance OMIM:166710 COL1A2 1278 HP:0000006 Autosomal dominant inheritance OMIM:166710 COL1A2 1278 HP:0000939 Osteoporosis OMIM:166710 VDR 7421 HP:0000006 Autosomal dominant inheritance OMIM:166710 VDR 7421 HP:0000939 Osteoporosis OMIM:161000 KRT14 3861 HP:0000670 Carious teeth OMIM:161000 KRT14 3861 HP:0000682 Abnormality of dental enamel OMIM:161000 KRT14 3861 HP:0001808 Fragile nails OMIM:161000 KRT14 3861 HP:0000966 Hypohidrosis OMIM:161000 KRT14 3861 HP:0007588 Reticular hyperpigmentation OMIM:161000 KRT14 3861 HP:0000982 Palmoplantar keratoderma OMIM:161000 KRT14 3861 HP:0001231 Abnormality of the fingernails OMIM:161000 KRT14 3861 HP:0006480 Premature loss of teeth OMIM:161000 KRT14 3861 HP:0007400 Irregular hyperpigmentation OMIM:161000 KRT14 3861 HP:0000006 Autosomal dominant inheritance OMIM:161000 KRT14 3861 HP:0008388 Abnormality of the toenails OMIM:161000 KRT14 3861 HP:0002046 Heat intolerance OMIM:616307 WDR19 57728 HP:0001407 Hepatic cysts OMIM:616307 WDR19 57728 HP:0000505 Visual impairment OMIM:616307 WDR19 57728 HP:0000090 Nephronophthisis OMIM:616307 WDR19 57728 HP:0001737 Pancreatic cysts OMIM:206900 SOX2 6657 HP:0000505 Visual impairment OMIM:206900 SOX2 6657 HP:0000589 Coloboma OMIM:206900 SOX2 6657 HP:0000238 Hydrocephalus OMIM:206900 SOX2 6657 HP:0000772 Abnormality of the ribs OMIM:206900 SOX2 6657 HP:0001643 Patent ductus arteriosus OMIM:206900 SOX2 6657 HP:0008897 Postnatal growth retardation OMIM:206900 SOX2 6657 HP:0008417 Vertebral hypoplasia OMIM:206900 SOX2 6657 HP:0100627 Displacement of the external urethral meatus OMIM:206900 SOX2 6657 HP:0000047 Hypospadias OMIM:206900 SOX2 6657 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:206900 SOX2 6657 HP:0001263 Global developmental delay OMIM:206900 SOX2 6657 HP:0002444 Hypothalamic hamartoma OMIM:206900 SOX2 6657 HP:0001360 Holoprosencephaly OMIM:206900 SOX2 6657 HP:0000028 Cryptorchidism OMIM:206900 SOX2 6657 HP:0000054 Micropenis OMIM:206900 SOX2 6657 HP:0003312 Abnormal form of the vertebral bodies OMIM:206900 SOX2 6657 HP:0005815 Supernumerary ribs OMIM:206900 SOX2 6657 HP:0000006 Autosomal dominant inheritance OMIM:206900 SOX2 6657 HP:0002510 Spastic tetraplegia OMIM:206900 SOX2 6657 HP:0002007 Frontal bossing OMIM:206900 SOX2 6657 HP:0004322 Short stature OMIM:206900 SOX2 6657 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:206900 SOX2 6657 HP:0000568 Microphthalmos OMIM:206900 SOX2 6657 HP:0000044 Hypogonadotrophic hypogonadism OMIM:206900 SOX2 6657 HP:0001274 Agenesis of corpus callosum OMIM:206900 SOX2 6657 HP:0002079 Hypoplasia of the corpus callosum OMIM:206900 SOX2 6657 HP:0000528 Anophthalmia OMIM:206900 SOX2 6657 HP:0002948 Vertebral fusion OMIM:206900 SOX2 6657 HP:0010627 Anterior pituitary hypoplasia OMIM:206900 SOX2 6657 HP:0002937 Hemivertebrae OMIM:206900 SOX2 6657 HP:0002032 Esophageal atresia OMIM:206900 SOX2 6657 HP:0002575 Tracheoesophageal fistula OMIM:206900 SOX2 6657 HP:0008572 External ear malformation OMIM:206900 SOX2 6657 HP:0100543 Cognitive impairment OMIM:206900 SOX2 6657 HP:0001328 Specific learning disability OMIM:206900 SOX2 6657 HP:0001264 Spastic diplegia OMIM:206900 SOX2 6657 HP:0001629 Ventricular septal defect OMIM:206900 SOX2 6657 HP:0003316 Butterfly vertebrae OMIM:206900 SOX2 6657 HP:0000902 Rib fusion OMIM:206900 SOX2 6657 HP:0000612 Iris coloboma OMIM:206900 SOX2 6657 HP:0000407 Sensorineural hearing impairment OMIM:206900 SOX2 6657 HP:0000609 Optic nerve hypoplasia OMIM:206900 SOX2 6657 HP:0000921 Missing ribs OMIM:206900 SOX2 6657 HP:0000647 Sclerocornea OMIM:206900 SOX2 6657 HP:0000252 Microcephaly OMIM:206900 SOX2 6657 HP:0008736 Hypoplasia of penis OMIM:206900 SOX2 6657 HP:0001252 Muscular hypotonia OMIM:614468 PLCG2 5336 HP:0000006 Autosomal dominant inheritance OMIM:614468 PLCG2 5336 HP:0001025 Urticaria OMIM:614468 PLCG2 5336 HP:0002958 Immune dysregulation OMIM:614468 PLCG2 5336 HP:0002099 Asthma OMIM:614468 PLCG2 5336 HP:0000872 Hashimoto thyroiditis OMIM:614468 PLCG2 5336 HP:0003193 Allergic rhinitis OMIM:614468 PLCG2 5336 HP:0002719 Recurrent infections OMIM:614468 PLCG2 5336 HP:0001045 Vitiligo OMIM:237900 UGT1A1 54658 HP:0000007 Autosomal recessive inheritance OMIM:237900 UGT1A1 54658 HP:0100021 Cerebral palsy OMIM:237900 UGT1A1 54658 HP:0008176 Neonatal unconjugated hyperbilirubinemia OMIM:237900 UGT1A1 54658 HP:0000952 Jaundice OMIM:237900 UGT1A1 54658 HP:0001343 Kernicterus OMIM:612840 FERMT3 83706 HP:0002718 Recurrent bacterial infections OMIM:612840 FERMT3 83706 HP:0001974 Leukocytosis OMIM:612840 FERMT3 83706 HP:0011002 Osteopetrosis OMIM:612840 FERMT3 83706 HP:0003593 Infantile onset OMIM:612840 FERMT3 83706 HP:0000967 Petechiae OMIM:612840 FERMT3 83706 HP:0001903 Anemia OMIM:612840 FERMT3 83706 HP:0001744 Splenomegaly OMIM:612840 FERMT3 83706 HP:0000007 Autosomal recessive inheritance OMIM:612840 FERMT3 83706 HP:0000421 Epistaxis OMIM:612840 FERMT3 83706 HP:0002240 Hepatomegaly ORPHANET:475 CEP41 95681 HP:0000426 Prominent nasal bridge ORPHANET:475 CEP41 95681 HP:0001288 Gait disturbance ORPHANET:475 CEP41 95681 HP:0000657 Oculomotor apraxia ORPHANET:475 CEP41 95681 HP:0002650 Scoliosis ORPHANET:475 CEP41 95681 HP:0000508 Ptosis ORPHANET:475 CEP41 95681 HP:0002553 Highly arched eyebrow ORPHANET:475 CEP41 95681 HP:0002269 Abnormality of neuronal migration ORPHANET:475 CEP41 95681 HP:0000276 Long face ORPHANET:475 CEP41 95681 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:475 CEP41 95681 HP:0002084 Encephalocele ORPHANET:475 CEP41 95681 HP:0001696 Situs inversus totalis ORPHANET:475 CEP41 95681 HP:0000639 Nystagmus ORPHANET:475 CEP41 95681 HP:0000238 Hydrocephalus ORPHANET:475 CEP41 95681 HP:0000612 Iris coloboma ORPHANET:475 CEP41 95681 HP:0001250 Seizures ORPHANET:475 CEP41 95681 HP:0001829 Foot polydactyly ORPHANET:475 CEP41 95681 HP:0001337 Tremor ORPHANET:475 CEP41 95681 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:475 CEP41 95681 HP:0001252 Muscular hypotonia ORPHANET:475 CEP41 95681 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:475 CEP41 95681 HP:0000202 Oral cleft ORPHANET:475 CEP41 95681 HP:0002104 Apnea ORPHANET:475 CEP41 95681 HP:0000463 Anteverted nares ORPHANET:475 CEP41 95681 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:475 CEP41 95681 HP:0002311 Incoordination ORPHANET:475 CEP41 95681 HP:0000341 Narrow forehead ORPHANET:475 CEP41 95681 HP:0002251 Aganglionic megacolon ORPHANET:475 CEP41 95681 HP:0000486 Strabismus ORPHANET:475 CEP41 95681 HP:0100543 Cognitive impairment ORPHANET:475 CEP41 95681 HP:0001161 Hand polydactyly ORPHANET:475 TCTN1 79600 HP:0000426 Prominent nasal bridge ORPHANET:475 TCTN1 79600 HP:0001288 Gait disturbance ORPHANET:475 TCTN1 79600 HP:0000657 Oculomotor apraxia ORPHANET:475 TCTN1 79600 HP:0002650 Scoliosis ORPHANET:475 TCTN1 79600 HP:0000508 Ptosis ORPHANET:475 TCTN1 79600 HP:0002553 Highly arched eyebrow ORPHANET:475 TCTN1 79600 HP:0002269 Abnormality of neuronal migration ORPHANET:475 TCTN1 79600 HP:0000276 Long face ORPHANET:475 TCTN1 79600 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:475 TCTN1 79600 HP:0002084 Encephalocele ORPHANET:475 TCTN1 79600 HP:0001696 Situs inversus totalis ORPHANET:475 TCTN1 79600 HP:0000639 Nystagmus ORPHANET:475 TCTN1 79600 HP:0000238 Hydrocephalus ORPHANET:475 TCTN1 79600 HP:0000612 Iris coloboma ORPHANET:475 TCTN1 79600 HP:0001250 Seizures ORPHANET:475 TCTN1 79600 HP:0001829 Foot polydactyly ORPHANET:475 TCTN1 79600 HP:0001337 Tremor ORPHANET:475 TCTN1 79600 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:475 TCTN1 79600 HP:0001252 Muscular hypotonia ORPHANET:475 TCTN1 79600 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:475 TCTN1 79600 HP:0000202 Oral cleft ORPHANET:475 TCTN1 79600 HP:0002104 Apnea ORPHANET:475 TCTN1 79600 HP:0000463 Anteverted nares ORPHANET:475 TCTN1 79600 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:475 TCTN1 79600 HP:0002311 Incoordination ORPHANET:475 TCTN1 79600 HP:0000341 Narrow forehead ORPHANET:475 TCTN1 79600 HP:0002251 Aganglionic megacolon ORPHANET:475 TCTN1 79600 HP:0000486 Strabismus ORPHANET:475 TCTN1 79600 HP:0100543 Cognitive impairment ORPHANET:475 TCTN1 79600 HP:0001161 Hand polydactyly ORPHANET:475 MKS1 54903 HP:0000426 Prominent nasal bridge ORPHANET:475 MKS1 54903 HP:0001288 Gait disturbance ORPHANET:475 MKS1 54903 HP:0000657 Oculomotor apraxia ORPHANET:475 MKS1 54903 HP:0002650 Scoliosis ORPHANET:475 MKS1 54903 HP:0000508 Ptosis ORPHANET:475 MKS1 54903 HP:0002553 Highly arched eyebrow ORPHANET:475 MKS1 54903 HP:0002269 Abnormality of neuronal migration ORPHANET:475 MKS1 54903 HP:0000276 Long face ORPHANET:475 MKS1 54903 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:475 MKS1 54903 HP:0002084 Encephalocele ORPHANET:475 MKS1 54903 HP:0001696 Situs inversus totalis ORPHANET:475 MKS1 54903 HP:0000639 Nystagmus ORPHANET:475 MKS1 54903 HP:0000238 Hydrocephalus ORPHANET:475 MKS1 54903 HP:0000612 Iris coloboma ORPHANET:475 MKS1 54903 HP:0001250 Seizures ORPHANET:475 MKS1 54903 HP:0001829 Foot polydactyly ORPHANET:475 MKS1 54903 HP:0001337 Tremor ORPHANET:475 MKS1 54903 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:475 MKS1 54903 HP:0001252 Muscular hypotonia ORPHANET:475 MKS1 54903 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:475 MKS1 54903 HP:0000202 Oral cleft ORPHANET:475 MKS1 54903 HP:0002104 Apnea ORPHANET:475 MKS1 54903 HP:0000463 Anteverted nares ORPHANET:475 MKS1 54903 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:475 MKS1 54903 HP:0002311 Incoordination ORPHANET:475 MKS1 54903 HP:0000341 Narrow forehead ORPHANET:475 MKS1 54903 HP:0002251 Aganglionic megacolon ORPHANET:475 MKS1 54903 HP:0000486 Strabismus ORPHANET:475 MKS1 54903 HP:0100543 Cognitive impairment ORPHANET:475 MKS1 54903 HP:0001161 Hand polydactyly ORPHANET:475 TMEM67 91147 HP:0000426 Prominent nasal bridge ORPHANET:475 TMEM67 91147 HP:0001288 Gait disturbance ORPHANET:475 TMEM67 91147 HP:0000657 Oculomotor apraxia ORPHANET:475 TMEM67 91147 HP:0002650 Scoliosis ORPHANET:475 TMEM67 91147 HP:0000508 Ptosis ORPHANET:475 TMEM67 91147 HP:0002553 Highly arched eyebrow ORPHANET:475 TMEM67 91147 HP:0002269 Abnormality of neuronal migration ORPHANET:475 TMEM67 91147 HP:0000276 Long face ORPHANET:475 TMEM67 91147 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:475 TMEM67 91147 HP:0002084 Encephalocele ORPHANET:475 TMEM67 91147 HP:0001696 Situs inversus totalis ORPHANET:475 TMEM67 91147 HP:0000639 Nystagmus ORPHANET:475 TMEM67 91147 HP:0000238 Hydrocephalus ORPHANET:475 TMEM67 91147 HP:0000612 Iris coloboma ORPHANET:475 TMEM67 91147 HP:0001250 Seizures ORPHANET:475 TMEM67 91147 HP:0001829 Foot polydactyly ORPHANET:475 TMEM67 91147 HP:0001337 Tremor ORPHANET:475 TMEM67 91147 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:475 TMEM67 91147 HP:0001252 Muscular hypotonia ORPHANET:475 TMEM67 91147 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:475 TMEM67 91147 HP:0000202 Oral cleft ORPHANET:475 TMEM67 91147 HP:0002104 Apnea ORPHANET:475 TMEM67 91147 HP:0000463 Anteverted nares ORPHANET:475 TMEM67 91147 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:475 TMEM67 91147 HP:0002311 Incoordination ORPHANET:475 TMEM67 91147 HP:0000341 Narrow forehead ORPHANET:475 TMEM67 91147 HP:0002251 Aganglionic megacolon ORPHANET:475 TMEM67 91147 HP:0000486 Strabismus ORPHANET:475 TMEM67 91147 HP:0100543 Cognitive impairment ORPHANET:475 TMEM67 91147 HP:0001161 Hand polydactyly ORPHANET:475 ARL13B 200894 HP:0000426 Prominent nasal bridge ORPHANET:475 ARL13B 200894 HP:0001288 Gait disturbance ORPHANET:475 ARL13B 200894 HP:0000657 Oculomotor apraxia ORPHANET:475 ARL13B 200894 HP:0002650 Scoliosis ORPHANET:475 ARL13B 200894 HP:0000508 Ptosis ORPHANET:475 ARL13B 200894 HP:0002553 Highly arched eyebrow ORPHANET:475 ARL13B 200894 HP:0002269 Abnormality of neuronal migration ORPHANET:475 ARL13B 200894 HP:0000276 Long face ORPHANET:475 ARL13B 200894 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:475 ARL13B 200894 HP:0002084 Encephalocele ORPHANET:475 ARL13B 200894 HP:0001696 Situs inversus totalis ORPHANET:475 ARL13B 200894 HP:0000639 Nystagmus ORPHANET:475 ARL13B 200894 HP:0000238 Hydrocephalus ORPHANET:475 ARL13B 200894 HP:0000612 Iris coloboma ORPHANET:475 ARL13B 200894 HP:0001250 Seizures ORPHANET:475 ARL13B 200894 HP:0001829 Foot polydactyly ORPHANET:475 ARL13B 200894 HP:0001337 Tremor ORPHANET:475 ARL13B 200894 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:475 ARL13B 200894 HP:0001252 Muscular hypotonia ORPHANET:475 ARL13B 200894 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:475 ARL13B 200894 HP:0000202 Oral cleft ORPHANET:475 ARL13B 200894 HP:0002104 Apnea ORPHANET:475 ARL13B 200894 HP:0000463 Anteverted nares ORPHANET:475 ARL13B 200894 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:475 ARL13B 200894 HP:0002311 Incoordination ORPHANET:475 ARL13B 200894 HP:0000341 Narrow forehead ORPHANET:475 ARL13B 200894 HP:0002251 Aganglionic megacolon ORPHANET:475 ARL13B 200894 HP:0000486 Strabismus ORPHANET:475 ARL13B 200894 HP:0100543 Cognitive impairment ORPHANET:475 ARL13B 200894 HP:0001161 Hand polydactyly ORPHANET:475 AHI1 54806 HP:0000426 Prominent nasal bridge ORPHANET:475 AHI1 54806 HP:0001288 Gait disturbance ORPHANET:475 AHI1 54806 HP:0000657 Oculomotor apraxia ORPHANET:475 AHI1 54806 HP:0002650 Scoliosis ORPHANET:475 AHI1 54806 HP:0000508 Ptosis ORPHANET:475 AHI1 54806 HP:0002553 Highly arched eyebrow ORPHANET:475 AHI1 54806 HP:0002269 Abnormality of neuronal migration ORPHANET:475 AHI1 54806 HP:0000276 Long face ORPHANET:475 AHI1 54806 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:475 AHI1 54806 HP:0002084 Encephalocele ORPHANET:475 AHI1 54806 HP:0001696 Situs inversus totalis ORPHANET:475 AHI1 54806 HP:0000639 Nystagmus ORPHANET:475 AHI1 54806 HP:0000238 Hydrocephalus ORPHANET:475 AHI1 54806 HP:0000612 Iris coloboma ORPHANET:475 AHI1 54806 HP:0001250 Seizures ORPHANET:475 AHI1 54806 HP:0001829 Foot polydactyly ORPHANET:475 AHI1 54806 HP:0001337 Tremor ORPHANET:475 AHI1 54806 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:475 AHI1 54806 HP:0001252 Muscular hypotonia ORPHANET:475 AHI1 54806 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:475 AHI1 54806 HP:0000202 Oral cleft ORPHANET:475 AHI1 54806 HP:0002104 Apnea ORPHANET:475 AHI1 54806 HP:0000463 Anteverted nares ORPHANET:475 AHI1 54806 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:475 AHI1 54806 HP:0002311 Incoordination ORPHANET:475 AHI1 54806 HP:0000341 Narrow forehead ORPHANET:475 AHI1 54806 HP:0002251 Aganglionic megacolon ORPHANET:475 AHI1 54806 HP:0000486 Strabismus ORPHANET:475 AHI1 54806 HP:0100543 Cognitive impairment ORPHANET:475 AHI1 54806 HP:0001161 Hand polydactyly ORPHANET:475 TMEM237 65062 HP:0000426 Prominent nasal bridge ORPHANET:475 TMEM237 65062 HP:0001288 Gait disturbance ORPHANET:475 TMEM237 65062 HP:0000657 Oculomotor apraxia ORPHANET:475 TMEM237 65062 HP:0002650 Scoliosis ORPHANET:475 TMEM237 65062 HP:0000508 Ptosis ORPHANET:475 TMEM237 65062 HP:0002553 Highly arched eyebrow ORPHANET:475 TMEM237 65062 HP:0002269 Abnormality of neuronal migration ORPHANET:475 TMEM237 65062 HP:0000276 Long face ORPHANET:475 TMEM237 65062 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:475 TMEM237 65062 HP:0002084 Encephalocele ORPHANET:475 TMEM237 65062 HP:0001696 Situs inversus totalis ORPHANET:475 TMEM237 65062 HP:0000639 Nystagmus ORPHANET:475 TMEM237 65062 HP:0000238 Hydrocephalus ORPHANET:475 TMEM237 65062 HP:0000612 Iris coloboma ORPHANET:475 TMEM237 65062 HP:0001250 Seizures ORPHANET:475 TMEM237 65062 HP:0001829 Foot polydactyly ORPHANET:475 TMEM237 65062 HP:0001337 Tremor ORPHANET:475 TMEM237 65062 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:475 TMEM237 65062 HP:0001252 Muscular hypotonia ORPHANET:475 TMEM237 65062 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:475 TMEM237 65062 HP:0000202 Oral cleft ORPHANET:475 TMEM237 65062 HP:0002104 Apnea ORPHANET:475 TMEM237 65062 HP:0000463 Anteverted nares ORPHANET:475 TMEM237 65062 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:475 TMEM237 65062 HP:0002311 Incoordination ORPHANET:475 TMEM237 65062 HP:0000341 Narrow forehead ORPHANET:475 TMEM237 65062 HP:0002251 Aganglionic megacolon ORPHANET:475 TMEM237 65062 HP:0000486 Strabismus ORPHANET:475 TMEM237 65062 HP:0100543 Cognitive impairment ORPHANET:475 TMEM237 65062 HP:0001161 Hand polydactyly ORPHANET:475 TCTN2 79867 HP:0000426 Prominent nasal bridge ORPHANET:475 TCTN2 79867 HP:0001288 Gait disturbance ORPHANET:475 TCTN2 79867 HP:0000657 Oculomotor apraxia ORPHANET:475 TCTN2 79867 HP:0002650 Scoliosis ORPHANET:475 TCTN2 79867 HP:0000508 Ptosis ORPHANET:475 TCTN2 79867 HP:0002553 Highly arched eyebrow ORPHANET:475 TCTN2 79867 HP:0002269 Abnormality of neuronal migration ORPHANET:475 TCTN2 79867 HP:0000276 Long face ORPHANET:475 TCTN2 79867 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:475 TCTN2 79867 HP:0002084 Encephalocele ORPHANET:475 TCTN2 79867 HP:0001696 Situs inversus totalis ORPHANET:475 TCTN2 79867 HP:0000639 Nystagmus ORPHANET:475 TCTN2 79867 HP:0000238 Hydrocephalus ORPHANET:475 TCTN2 79867 HP:0000612 Iris coloboma ORPHANET:475 TCTN2 79867 HP:0001250 Seizures ORPHANET:475 TCTN2 79867 HP:0001829 Foot polydactyly ORPHANET:475 TCTN2 79867 HP:0001337 Tremor ORPHANET:475 TCTN2 79867 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:475 TCTN2 79867 HP:0001252 Muscular hypotonia ORPHANET:475 TCTN2 79867 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:475 TCTN2 79867 HP:0000202 Oral cleft ORPHANET:475 TCTN2 79867 HP:0002104 Apnea ORPHANET:475 TCTN2 79867 HP:0000463 Anteverted nares ORPHANET:475 TCTN2 79867 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:475 TCTN2 79867 HP:0002311 Incoordination ORPHANET:475 TCTN2 79867 HP:0000341 Narrow forehead ORPHANET:475 TCTN2 79867 HP:0002251 Aganglionic megacolon ORPHANET:475 TCTN2 79867 HP:0000486 Strabismus ORPHANET:475 TCTN2 79867 HP:0100543 Cognitive impairment ORPHANET:475 TCTN2 79867 HP:0001161 Hand polydactyly ORPHANET:475 INPP5E 56623 HP:0000426 Prominent nasal bridge ORPHANET:475 INPP5E 56623 HP:0001288 Gait disturbance ORPHANET:475 INPP5E 56623 HP:0000657 Oculomotor apraxia ORPHANET:475 INPP5E 56623 HP:0002650 Scoliosis ORPHANET:475 INPP5E 56623 HP:0000508 Ptosis ORPHANET:475 INPP5E 56623 HP:0002553 Highly arched eyebrow ORPHANET:475 INPP5E 56623 HP:0002269 Abnormality of neuronal migration ORPHANET:475 INPP5E 56623 HP:0000276 Long face ORPHANET:475 INPP5E 56623 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:475 INPP5E 56623 HP:0002084 Encephalocele ORPHANET:475 INPP5E 56623 HP:0001696 Situs inversus totalis ORPHANET:475 INPP5E 56623 HP:0000639 Nystagmus ORPHANET:475 INPP5E 56623 HP:0000238 Hydrocephalus ORPHANET:475 INPP5E 56623 HP:0000612 Iris coloboma ORPHANET:475 INPP5E 56623 HP:0001250 Seizures ORPHANET:475 INPP5E 56623 HP:0001829 Foot polydactyly ORPHANET:475 INPP5E 56623 HP:0001337 Tremor ORPHANET:475 INPP5E 56623 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:475 INPP5E 56623 HP:0001252 Muscular hypotonia ORPHANET:475 INPP5E 56623 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:475 INPP5E 56623 HP:0000202 Oral cleft ORPHANET:475 INPP5E 56623 HP:0002104 Apnea ORPHANET:475 INPP5E 56623 HP:0000463 Anteverted nares ORPHANET:475 INPP5E 56623 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:475 INPP5E 56623 HP:0002311 Incoordination ORPHANET:475 INPP5E 56623 HP:0000341 Narrow forehead ORPHANET:475 INPP5E 56623 HP:0002251 Aganglionic megacolon ORPHANET:475 INPP5E 56623 HP:0000486 Strabismus ORPHANET:475 INPP5E 56623 HP:0100543 Cognitive impairment ORPHANET:475 INPP5E 56623 HP:0001161 Hand polydactyly ORPHANET:475 CSPP1 79848 HP:0000426 Prominent nasal bridge ORPHANET:475 CSPP1 79848 HP:0001288 Gait disturbance ORPHANET:475 CSPP1 79848 HP:0000657 Oculomotor apraxia ORPHANET:475 CSPP1 79848 HP:0002650 Scoliosis ORPHANET:475 CSPP1 79848 HP:0000508 Ptosis ORPHANET:475 CSPP1 79848 HP:0002553 Highly arched eyebrow ORPHANET:475 CSPP1 79848 HP:0002269 Abnormality of neuronal migration ORPHANET:475 CSPP1 79848 HP:0000276 Long face ORPHANET:475 CSPP1 79848 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:475 CSPP1 79848 HP:0002084 Encephalocele ORPHANET:475 CSPP1 79848 HP:0001696 Situs inversus totalis ORPHANET:475 CSPP1 79848 HP:0000639 Nystagmus ORPHANET:475 CSPP1 79848 HP:0000238 Hydrocephalus ORPHANET:475 CSPP1 79848 HP:0000612 Iris coloboma ORPHANET:475 CSPP1 79848 HP:0001250 Seizures ORPHANET:475 CSPP1 79848 HP:0001829 Foot polydactyly ORPHANET:475 CSPP1 79848 HP:0001337 Tremor ORPHANET:475 CSPP1 79848 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:475 CSPP1 79848 HP:0001252 Muscular hypotonia ORPHANET:475 CSPP1 79848 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:475 CSPP1 79848 HP:0000202 Oral cleft ORPHANET:475 CSPP1 79848 HP:0002104 Apnea ORPHANET:475 CSPP1 79848 HP:0000463 Anteverted nares ORPHANET:475 CSPP1 79848 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:475 CSPP1 79848 HP:0002311 Incoordination ORPHANET:475 CSPP1 79848 HP:0000341 Narrow forehead ORPHANET:475 CSPP1 79848 HP:0002251 Aganglionic megacolon ORPHANET:475 CSPP1 79848 HP:0000486 Strabismus ORPHANET:475 CSPP1 79848 HP:0100543 Cognitive impairment ORPHANET:475 CSPP1 79848 HP:0001161 Hand polydactyly ORPHANET:475 B9D1 27077 HP:0000426 Prominent nasal bridge ORPHANET:475 B9D1 27077 HP:0001288 Gait disturbance ORPHANET:475 B9D1 27077 HP:0000657 Oculomotor apraxia ORPHANET:475 B9D1 27077 HP:0002650 Scoliosis ORPHANET:475 B9D1 27077 HP:0000508 Ptosis ORPHANET:475 B9D1 27077 HP:0002553 Highly arched eyebrow ORPHANET:475 B9D1 27077 HP:0002269 Abnormality of neuronal migration ORPHANET:475 B9D1 27077 HP:0000276 Long face ORPHANET:475 B9D1 27077 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:475 B9D1 27077 HP:0002084 Encephalocele ORPHANET:475 B9D1 27077 HP:0001696 Situs inversus totalis ORPHANET:475 B9D1 27077 HP:0000639 Nystagmus ORPHANET:475 B9D1 27077 HP:0000238 Hydrocephalus ORPHANET:475 B9D1 27077 HP:0000612 Iris coloboma ORPHANET:475 B9D1 27077 HP:0001250 Seizures ORPHANET:475 B9D1 27077 HP:0001829 Foot polydactyly ORPHANET:475 B9D1 27077 HP:0001337 Tremor ORPHANET:475 B9D1 27077 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:475 B9D1 27077 HP:0001252 Muscular hypotonia ORPHANET:475 B9D1 27077 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:475 B9D1 27077 HP:0000202 Oral cleft ORPHANET:475 B9D1 27077 HP:0002104 Apnea ORPHANET:475 B9D1 27077 HP:0000463 Anteverted nares ORPHANET:475 B9D1 27077 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:475 B9D1 27077 HP:0002311 Incoordination ORPHANET:475 B9D1 27077 HP:0000341 Narrow forehead ORPHANET:475 B9D1 27077 HP:0002251 Aganglionic megacolon ORPHANET:475 B9D1 27077 HP:0000486 Strabismus ORPHANET:475 B9D1 27077 HP:0100543 Cognitive impairment ORPHANET:475 B9D1 27077 HP:0001161 Hand polydactyly ORPHANET:475 C5ORF42 65250 HP:0000426 Prominent nasal bridge ORPHANET:475 C5ORF42 65250 HP:0001288 Gait disturbance ORPHANET:475 C5ORF42 65250 HP:0000657 Oculomotor apraxia ORPHANET:475 C5ORF42 65250 HP:0002650 Scoliosis ORPHANET:475 C5ORF42 65250 HP:0000508 Ptosis ORPHANET:475 C5ORF42 65250 HP:0002553 Highly arched eyebrow ORPHANET:475 C5ORF42 65250 HP:0002269 Abnormality of neuronal migration ORPHANET:475 C5ORF42 65250 HP:0000276 Long face ORPHANET:475 C5ORF42 65250 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:475 C5ORF42 65250 HP:0002084 Encephalocele ORPHANET:475 C5ORF42 65250 HP:0001696 Situs inversus totalis ORPHANET:475 C5ORF42 65250 HP:0000639 Nystagmus ORPHANET:475 C5ORF42 65250 HP:0000238 Hydrocephalus ORPHANET:475 C5ORF42 65250 HP:0000612 Iris coloboma ORPHANET:475 C5ORF42 65250 HP:0001250 Seizures ORPHANET:475 C5ORF42 65250 HP:0001829 Foot polydactyly ORPHANET:475 C5ORF42 65250 HP:0001337 Tremor ORPHANET:475 C5ORF42 65250 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:475 C5ORF42 65250 HP:0001252 Muscular hypotonia ORPHANET:475 C5ORF42 65250 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:475 C5ORF42 65250 HP:0000202 Oral cleft ORPHANET:475 C5ORF42 65250 HP:0002104 Apnea ORPHANET:475 C5ORF42 65250 HP:0000463 Anteverted nares ORPHANET:475 C5ORF42 65250 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:475 C5ORF42 65250 HP:0002311 Incoordination ORPHANET:475 C5ORF42 65250 HP:0000341 Narrow forehead ORPHANET:475 C5ORF42 65250 HP:0002251 Aganglionic megacolon ORPHANET:475 C5ORF42 65250 HP:0000486 Strabismus ORPHANET:475 C5ORF42 65250 HP:0100543 Cognitive impairment ORPHANET:475 C5ORF42 65250 HP:0001161 Hand polydactyly OMIM:613970 GRIN2B 2904 HP:0000708 Behavioral abnormality OMIM:613970 GRIN2B 2904 HP:0000006 Autosomal dominant inheritance OMIM:613970 GRIN2B 2904 HP:0002353 EEG abnormality OMIM:613970 GRIN2B 2904 HP:0001249 Intellectual disability OMIM:616115 NLRC4 58484 HP:0002829 Arthralgia OMIM:609583 NPHP1 4867 HP:0011933 Elongated superior cerebellar peduncle OMIM:609583 NPHP1 4867 HP:0002404 Thickened superior cerebellar peduncle OMIM:609583 NPHP1 4867 HP:0000083 Renal insufficiency OMIM:609583 NPHP1 4867 HP:0001320 Cerebellar vermis hypoplasia OMIM:609583 NPHP1 4867 HP:0000639 Nystagmus OMIM:609583 NPHP1 4867 HP:0002194 Delayed gross motor development OMIM:609583 NPHP1 4867 HP:0001251 Ataxia OMIM:609583 NPHP1 4867 HP:0000571 Hypometric saccades OMIM:609583 NPHP1 4867 HP:0002419 Molar tooth sign on MRI OMIM:609583 NPHP1 4867 HP:0100543 Cognitive impairment OMIM:609583 NPHP1 4867 HP:0000657 Oculomotor apraxia OMIM:609583 NPHP1 4867 HP:0000090 Nephronophthisis OMIM:609583 NPHP1 4867 HP:0001252 Muscular hypotonia OMIM:609583 NPHP1 4867 HP:0000007 Autosomal recessive inheritance OMIM:613162 NT5C2 22978 HP:0001371 Flexion contracture OMIM:613162 NT5C2 22978 HP:0002079 Hypoplasia of the corpus callosum OMIM:613162 NT5C2 22978 HP:0001258 Spastic paraplegia OMIM:613162 NT5C2 22978 HP:0000648 Optic atrophy OMIM:613162 NT5C2 22978 HP:0002064 Spastic gait OMIM:613162 NT5C2 22978 HP:0003487 Babinski sign OMIM:613162 NT5C2 22978 HP:0000639 Nystagmus OMIM:613162 NT5C2 22978 HP:0000545 Myopia OMIM:613162 NT5C2 22978 HP:0001762 Talipes equinovarus OMIM:613162 NT5C2 22978 HP:0001249 Intellectual disability OMIM:613162 NT5C2 22978 HP:0000007 Autosomal recessive inheritance OMIM:613162 NT5C2 22978 HP:0006989 Dysplastic corpus callosum OMIM:613162 NT5C2 22978 HP:0001347 Hyperreflexia OMIM:613162 NT5C2 22978 HP:0001270 Motor delay OMIM:600920 SCARF2 91179 HP:0000316 Hypertelorism OMIM:600920 SCARF2 91179 HP:0000883 Thin ribs OMIM:600920 SCARF2 91179 HP:0001199 Triphalangeal thumb OMIM:600920 SCARF2 91179 HP:0001601 Laryngomalacia OMIM:600920 SCARF2 91179 HP:0000767 Pectus excavatum OMIM:600920 SCARF2 91179 HP:0000175 Cleft palate OMIM:600920 SCARF2 91179 HP:0000400 Macrotia OMIM:600920 SCARF2 91179 HP:0005033 Distal ulnar hypoplasia OMIM:600920 SCARF2 91179 HP:0000678 Dental crowding OMIM:600920 SCARF2 91179 HP:0004209 Clinodactyly of the 5th finger OMIM:600920 SCARF2 91179 HP:0000772 Abnormality of the ribs OMIM:600920 SCARF2 91179 HP:0002987 Elbow flexion contracture OMIM:600920 SCARF2 91179 HP:0000460 Narrow nose OMIM:600920 SCARF2 91179 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:600920 SCARF2 91179 HP:0000534 Abnormality of the eyebrow OMIM:600920 SCARF2 91179 HP:0010511 Long toe OMIM:600920 SCARF2 91179 HP:0000272 Malar flattening OMIM:600920 SCARF2 91179 HP:0000446 Narrow nasal bridge OMIM:600920 SCARF2 91179 HP:0001847 Long hallux OMIM:600920 SCARF2 91179 HP:0006482 Abnormality of dental morphology OMIM:600920 SCARF2 91179 HP:0000232 Everted lower lip vermilion OMIM:600920 SCARF2 91179 HP:0006487 Bowing of the long bones OMIM:600920 SCARF2 91179 HP:0001786 Narrow foot OMIM:600920 SCARF2 91179 HP:0001166 Arachnodactyly OMIM:600920 SCARF2 91179 HP:0000007 Autosomal recessive inheritance OMIM:600920 SCARF2 91179 HP:0000444 Convex nasal ridge OMIM:600920 SCARF2 91179 HP:0003100 Slender long bone OMIM:600920 SCARF2 91179 HP:0001883 Talipes OMIM:600920 SCARF2 91179 HP:0006633 Glenoid fossa hypoplasia OMIM:600920 SCARF2 91179 HP:0000430 Underdeveloped nasal alae OMIM:600920 SCARF2 91179 HP:0000411 Protruding ear OMIM:600920 SCARF2 91179 HP:0001762 Talipes equinovarus OMIM:600920 SCARF2 91179 HP:0000647 Sclerocornea OMIM:600920 SCARF2 91179 HP:0001822 Hallux valgus OMIM:600920 SCARF2 91179 HP:0009473 Joint contracture of the hand OMIM:600920 SCARF2 91179 HP:0003083 Dislocated radial head OMIM:600920 SCARF2 91179 HP:0006380 Knee flexion contracture OMIM:600920 SCARF2 91179 HP:0010493 Long metacarpals OMIM:600920 SCARF2 91179 HP:0005280 Depressed nasal bridge OMIM:600920 SCARF2 91179 HP:0000581 Blepharophimosis OMIM:600920 SCARF2 91179 HP:0003031 Ulnar bowing OMIM:600920 SCARF2 91179 HP:0003042 Elbow dislocation OMIM:600920 SCARF2 91179 HP:0001519 Disproportionate tall stature OMIM:600920 SCARF2 91179 HP:0002980 Femoral bowing OMIM:600920 SCARF2 91179 HP:0000895 Lateral clavicle hook OMIM:600920 SCARF2 91179 HP:0000327 Hypoplasia of the maxilla OMIM:600920 SCARF2 91179 HP:0001195 Single umbilical artery OMIM:600920 SCARF2 91179 HP:0001836 Camptodactyly of toe OMIM:600920 SCARF2 91179 HP:0000218 High palate OMIM:600920 SCARF2 91179 HP:0100490 Camptodactyly of finger OMIM:600920 SCARF2 91179 HP:0010307 Stridor OMIM:600920 SCARF2 91179 HP:0006236 Slender metacarpals OMIM:600920 SCARF2 91179 HP:0002750 Delayed skeletal maturation OMIM:600920 SCARF2 91179 HP:0001363 Craniosynostosis OMIM:600920 SCARF2 91179 HP:0001376 Limitation of joint mobility OMIM:600920 SCARF2 91179 HP:0010669 Cheekbone underdevelopment OMIM:300914 COL4A6 1288 HP:0000365 Hearing impairment OMIM:300914 COL4A6 1288 HP:0008554 Cochlear malformation OMIM:300914 COL4A6 1288 HP:0001419 X-linked recessive inheritance OMIM:219080 GNAS 2778 HP:0000938 Osteopenia OMIM:219080 GNAS 2778 HP:0001065 Striae distensae OMIM:219080 GNAS 2778 HP:0000939 Osteoporosis OMIM:219080 GNAS 2778 HP:0003202 Skeletal muscle atrophy OMIM:219080 GNAS 2778 HP:0003745 Sporadic OMIM:219080 GNAS 2778 HP:0001579 Primary hypercorticolism OMIM:219080 GNAS 2778 HP:0002920 Decreased circulating ACTH level OMIM:219080 GNAS 2778 HP:0001575 Mood changes OMIM:219080 GNAS 2778 HP:0002664 Neoplasm OMIM:219080 GNAS 2778 HP:0000716 Depression OMIM:219080 GNAS 2778 HP:0000822 Hypertension OMIM:219080 GNAS 2778 HP:0000978 Bruising susceptibility OMIM:219080 GNAS 2778 HP:0002808 Kyphosis OMIM:219080 GNAS 2778 HP:0003118 Increased circulating cortisol level OMIM:219080 GNAS 2778 HP:0000739 Anxiety OMIM:219080 GNAS 2778 HP:0001956 Truncal obesity OMIM:219080 GNAS 2778 HP:0000963 Thin skin OMIM:219080 GNAS 2778 HP:0003581 Adult onset OMIM:219080 GNAS 2778 HP:0000713 Agitation OMIM:219080 GNAS 2778 HP:0008231 Macronodular adrenal hyperplasia OMIM:219080 GNAS 2778 HP:0000311 Round face OMIM:219080 GNAS 2778 HP:0001268 Mental deterioration OMIM:219080 GNAS 2778 HP:0000006 Autosomal dominant inheritance OMIM:219080 GNAS 2778 HP:0000709 Psychosis OMIM:609446 KCNMA1 3778 HP:0007166 Paroxysmal dyskinesia OMIM:609446 KCNMA1 3778 HP:0000006 Autosomal dominant inheritance OMIM:609446 KCNMA1 3778 HP:0010849 EEG with spike-wave complexes (>3.5 Hz) OMIM:609446 KCNMA1 3778 HP:0002121 Absence seizures OMIM:609446 KCNMA1 3778 HP:0002069 Generalized tonic-clonic seizures OMIM:248250 CLDN16 10686 HP:0000010 Recurrent urinary tract infections OMIM:248250 CLDN16 10686 HP:0000545 Myopia OMIM:248250 CLDN16 10686 HP:0000639 Nystagmus OMIM:248250 CLDN16 10686 HP:0001281 Tetany OMIM:248250 CLDN16 10686 HP:0000486 Strabismus OMIM:248250 CLDN16 10686 HP:0001250 Seizures OMIM:248250 CLDN16 10686 HP:0002027 Abdominal pain OMIM:248250 CLDN16 10686 HP:0000121 Nephrocalcinosis OMIM:248250 CLDN16 10686 HP:0012637 Renal calcium wasting OMIM:248250 CLDN16 10686 HP:0001959 Polydipsia OMIM:248250 CLDN16 10686 HP:0002150 Hypercalciuria OMIM:248250 CLDN16 10686 HP:0000007 Autosomal recessive inheritance OMIM:248250 CLDN16 10686 HP:0002149 Hyperuricemia OMIM:248250 CLDN16 10686 HP:0000787 Nephrolithiasis OMIM:248250 CLDN16 10686 HP:0001508 Failure to thrive OMIM:248250 CLDN16 10686 HP:0012622 Chronic kidney disease OMIM:248250 CLDN16 10686 HP:0000103 Polyuria OMIM:248250 CLDN16 10686 HP:0008872 Feeding difficulties in infancy OMIM:248250 CLDN16 10686 HP:0000540 Hypermetropia OMIM:248250 CLDN16 10686 HP:0002917 Hypomagnesemia OMIM:248250 CLDN16 10686 HP:0000483 Astigmatism OMIM:248250 CLDN16 10686 HP:0003621 Juvenile onset OMIM:248250 CLDN16 10686 HP:0001947 Renal tubular acidosis OMIM:248250 CLDN16 10686 HP:0000790 Hematuria OMIM:248250 CLDN16 10686 HP:0005567 Renal magnesium wasting OMIM:248250 CLDN16 10686 HP:0012608 Hypermagnesiuria OMIM:248250 CLDN16 10686 HP:0012405 Hypocitraturia OMIM:117650 SNRPB 6628 HP:0000252 Microcephaly OMIM:117650 SNRPB 6628 HP:0001511 Intrauterine growth retardation OMIM:117650 SNRPB 6628 HP:0000405 Conductive hearing impairment OMIM:117650 SNRPB 6628 HP:0002324 Hydranencephaly OMIM:117650 SNRPB 6628 HP:0000347 Micrognathia OMIM:117650 SNRPB 6628 HP:0002779 Tracheomalacia OMIM:117650 SNRPB 6628 HP:0002514 Cerebral calcification OMIM:117650 SNRPB 6628 HP:0000162 Glossoptosis OMIM:117650 SNRPB 6628 HP:0000007 Autosomal recessive inheritance OMIM:117650 SNRPB 6628 HP:0000413 Atresia of the external auditory canal OMIM:117650 SNRPB 6628 HP:0000878 11 pairs of ribs OMIM:117650 SNRPB 6628 HP:0000343 Long philtrum OMIM:117650 SNRPB 6628 HP:0001374 Congenital hip dislocation OMIM:117650 SNRPB 6628 HP:0004695 Calcaneal epiphyseal stippling OMIM:117650 SNRPB 6628 HP:0002132 Porencephaly OMIM:117650 SNRPB 6628 HP:0002808 Kyphosis OMIM:117650 SNRPB 6628 HP:0000164 Abnormality of the teeth OMIM:117650 SNRPB 6628 HP:0005257 Thoracic hypoplasia OMIM:117650 SNRPB 6628 HP:0010290 Short hard palate OMIM:117650 SNRPB 6628 HP:0001561 Polyhydramnios OMIM:117650 SNRPB 6628 HP:0004322 Short stature OMIM:117650 SNRPB 6628 HP:0000086 Ectopic kidney OMIM:117650 SNRPB 6628 HP:0002643 Neonatal respiratory distress OMIM:117650 SNRPB 6628 HP:0001629 Ventricular septal defect OMIM:117650 SNRPB 6628 HP:0005792 Short humerus OMIM:117650 SNRPB 6628 HP:0008897 Postnatal growth retardation OMIM:117650 SNRPB 6628 HP:0000003 Multicystic kidney dysplasia OMIM:117650 SNRPB 6628 HP:0001249 Intellectual disability OMIM:117650 SNRPB 6628 HP:0000185 Cleft soft palate OMIM:117650 SNRPB 6628 HP:0100543 Cognitive impairment OMIM:117650 SNRPB 6628 HP:0000006 Autosomal dominant inheritance OMIM:117650 SNRPB 6628 HP:0004209 Clinodactyly of the 5th finger OMIM:117650 SNRPB 6628 HP:0002987 Elbow flexion contracture OMIM:117650 SNRPB 6628 HP:0006593 Anomalous rib insertion to vertebrae OMIM:117650 SNRPB 6628 HP:0000272 Malar flattening OMIM:117650 SNRPB 6628 HP:0000286 Epicanthus OMIM:117650 SNRPB 6628 HP:0000465 Webbed neck OMIM:117650 SNRPB 6628 HP:0001611 Nasal speech OMIM:117650 SNRPB 6628 HP:0002475 Myelomeningocele OMIM:117650 SNRPB 6628 HP:0000218 High palate OMIM:117650 SNRPB 6628 HP:0000369 Low-set ears OMIM:117650 SNRPB 6628 HP:0002650 Scoliosis OMIM:117650 SNRPB 6628 HP:0000358 Posteriorly rotated ears OMIM:117650 SNRPB 6628 HP:0001591 Bell-shaped thorax OMIM:610313 CLCF1 23529 HP:0001377 Limited elbow extension OMIM:610313 CLCF1 23529 HP:0009466 Radial deviation of finger OMIM:610313 CLCF1 23529 HP:0002944 Thoracolumbar scoliosis OMIM:610313 CLCF1 23529 HP:0002967 Cubitus valgus OMIM:610313 CLCF1 23529 HP:0001760 Abnormality of the foot OMIM:610313 CLCF1 23529 HP:0007141 Sensorimotor neuropathy OMIM:610313 CLCF1 23529 HP:0008872 Feeding difficulties in infancy OMIM:610313 CLCF1 23529 HP:0000411 Protruding ear OMIM:610313 CLCF1 23529 HP:0002938 Lumbar hyperlordosis OMIM:610313 CLCF1 23529 HP:0004691 2-3 toe syndactyly OMIM:610313 CLCF1 23529 HP:0000975 Hyperhidrosis OMIM:610313 CLCF1 23529 HP:0000007 Autosomal recessive inheritance OMIM:610313 CLCF1 23529 HP:0030084 Clinodactyly OMIM:610313 CLCF1 23529 HP:0010628 Facial palsy OMIM:610313 CLCF1 23529 HP:0000218 High palate OMIM:612015 RFT1 91869 HP:0000007 Autosomal recessive inheritance OMIM:612015 RFT1 91869 HP:0003160 Abnormal isoelectric focusing of serum transferrin OMIM:612015 RFT1 91869 HP:0001252 Muscular hypotonia OMIM:612015 RFT1 91869 HP:0002240 Hepatomegaly OMIM:612015 RFT1 91869 HP:0003256 Abnormality of the coagulation cascade OMIM:612015 RFT1 91869 HP:0001263 Global developmental delay OMIM:612015 RFT1 91869 HP:0001250 Seizures OMIM:100100 CHRM3 1131 HP:0002650 Scoliosis OMIM:100100 CHRM3 1131 HP:0001374 Congenital hip dislocation OMIM:100100 CHRM3 1131 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature OMIM:100100 CHRM3 1131 HP:0002580 Volvulus OMIM:100100 CHRM3 1131 HP:0001562 Oligohydramnios OMIM:100100 CHRM3 1131 HP:0100543 Cognitive impairment OMIM:100100 CHRM3 1131 HP:0001631 Defect in the atrial septum OMIM:100100 CHRM3 1131 HP:0100779 Urogenital sinus anomaly OMIM:100100 CHRM3 1131 HP:0001629 Ventricular septal defect OMIM:100100 CHRM3 1131 HP:0001762 Talipes equinovarus OMIM:100100 CHRM3 1131 HP:0001883 Talipes OMIM:100100 CHRM3 1131 HP:0000072 Hydroureter OMIM:100100 CHRM3 1131 HP:0002566 Intestinal malrotation OMIM:100100 CHRM3 1131 HP:0001643 Patent ductus arteriosus OMIM:100100 CHRM3 1131 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:100100 CHRM3 1131 HP:0100589 Urogenital fistula OMIM:100100 CHRM3 1131 HP:0000144 Decreased fertility OMIM:100100 CHRM3 1131 HP:0000767 Pectus excavatum OMIM:100100 CHRM3 1131 HP:0000217 Xerostomia OMIM:100100 CHRM3 1131 HP:0010957 Congenital posterior urethral valve OMIM:100100 CHRM3 1131 HP:0002023 Anal atresia OMIM:100100 CHRM3 1131 HP:0000007 Autosomal recessive inheritance OMIM:100100 CHRM3 1131 HP:0003422 Vertebral segmentation defect OMIM:100100 CHRM3 1131 HP:0000076 Vesicoureteral reflux OMIM:100100 CHRM3 1131 HP:0001636 Tetralogy of Fallot OMIM:100100 CHRM3 1131 HP:0004392 Prune belly OMIM:100100 CHRM3 1131 HP:0000028 Cryptorchidism OMIM:100100 CHRM3 1131 HP:0005199 Aplasia of the abdominal wall musculature OMIM:100100 CHRM3 1131 HP:0003272 Abnormality of the hip bone OMIM:100100 CHRM3 1131 HP:0000951 Abnormality of the skin OMIM:100100 CHRM3 1131 HP:0002019 Constipation OMIM:100100 CHRM3 1131 HP:0000083 Renal insufficiency OMIM:100100 CHRM3 1131 HP:0002205 Recurrent respiratory infections OMIM:100100 CHRM3 1131 HP:0000003 Multicystic kidney dysplasia OMIM:100100 CHRM3 1131 HP:0000010 Recurrent urinary tract infections OMIM:100100 CHRM3 1131 HP:0000772 Abnormality of the ribs OMIM:100100 CHRM3 1131 HP:0000768 Pectus carinatum OMIM:100100 CHRM3 1131 HP:0000126 Hydronephrosis OMIM:300354 CUL4B 8450 HP:0000154 Wide mouth OMIM:300354 CUL4B 8450 HP:0004482 Relative macrocephaly OMIM:300354 CUL4B 8450 HP:0000975 Hyperhidrosis OMIM:300354 CUL4B 8450 HP:0001382 Joint hypermobility OMIM:300354 CUL4B 8450 HP:0001388 Joint laxity OMIM:300354 CUL4B 8450 HP:0001249 Intellectual disability OMIM:300354 CUL4B 8450 HP:0000028 Cryptorchidism OMIM:300354 CUL4B 8450 HP:0000047 Hypospadias OMIM:300354 CUL4B 8450 HP:0002808 Kyphosis OMIM:300354 CUL4B 8450 HP:0000956 Acanthosis nigricans OMIM:300354 CUL4B 8450 HP:0001156 Brachydactyly syndrome OMIM:300354 CUL4B 8450 HP:0000135 Hypogonadism OMIM:300354 CUL4B 8450 HP:0000581 Blepharophimosis OMIM:300354 CUL4B 8450 HP:0001831 Short toe OMIM:300354 CUL4B 8450 HP:0001852 Sandal gap OMIM:300354 CUL4B 8450 HP:0001773 Short foot OMIM:300354 CUL4B 8450 HP:0001344 Absent speech OMIM:300354 CUL4B 8450 HP:0001770 Toe syndactyly OMIM:300354 CUL4B 8450 HP:0000232 Everted lower lip vermilion OMIM:300354 CUL4B 8450 HP:0004299 Hernia of the abdominal wall OMIM:300354 CUL4B 8450 HP:0008734 Decreased testicular size OMIM:300354 CUL4B 8450 HP:0000054 Micropenis OMIM:300354 CUL4B 8450 HP:0000035 Abnormality of the testis OMIM:300354 CUL4B 8450 HP:0000823 Delayed puberty OMIM:300354 CUL4B 8450 HP:0001250 Seizures OMIM:300354 CUL4B 8450 HP:0001761 Pes cavus OMIM:300354 CUL4B 8450 HP:0000752 Hyperactivity OMIM:300354 CUL4B 8450 HP:0001337 Tremor OMIM:300354 CUL4B 8450 HP:0001252 Muscular hypotonia OMIM:300354 CUL4B 8450 HP:0001956 Truncal obesity OMIM:300354 CUL4B 8450 HP:0002066 Gait ataxia OMIM:300354 CUL4B 8450 HP:0001763 Pes planus OMIM:300354 CUL4B 8450 HP:0010978 Abnormality of immune system physiology OMIM:300354 CUL4B 8450 HP:0001419 X-linked recessive inheritance OMIM:300354 CUL4B 8450 HP:0004322 Short stature OMIM:300354 CUL4B 8450 HP:0000280 Coarse facial features OMIM:300354 CUL4B 8450 HP:0100543 Cognitive impairment OMIM:300354 CUL4B 8450 HP:0001065 Striae distensae OMIM:300354 CUL4B 8450 HP:0000771 Gynecomastia OMIM:300354 CUL4B 8450 HP:0004325 Decreased body weight OMIM:300354 CUL4B 8450 HP:0001288 Gait disturbance OMIM:300354 CUL4B 8450 HP:0000179 Thick lower lip vermilion OMIM:300354 CUL4B 8450 HP:0002167 Neurological speech impairment OMIM:300354 CUL4B 8450 HP:0000720 Mood swings OMIM:300354 CUL4B 8450 HP:0000256 Macrocephaly OMIM:300354 CUL4B 8450 HP:0012743 Abdominal obesity OMIM:300354 CUL4B 8450 HP:0000158 Macroglossia OMIM:224750 WNT10A 80326 HP:0000320 Bird-like facies OMIM:224750 WNT10A 80326 HP:0011313 Narrow nail OMIM:224750 WNT10A 80326 HP:0006323 Premature loss of primary teeth OMIM:224750 WNT10A 80326 HP:0001596 Alopecia OMIM:224750 WNT10A 80326 HP:0100615 Ovarian neoplasm OMIM:224750 WNT10A 80326 HP:0001807 Ridged nail OMIM:224750 WNT10A 80326 HP:0001806 Onycholysis OMIM:224750 WNT10A 80326 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:224750 WNT10A 80326 HP:0009804 Reduced number of teeth OMIM:224750 WNT10A 80326 HP:0002671 Basal cell carcinoma OMIM:224750 WNT10A 80326 HP:0000478 Abnormality of the eye OMIM:224750 WNT10A 80326 HP:0000007 Autosomal recessive inheritance OMIM:224750 WNT10A 80326 HP:0002860 Squamous cell carcinoma OMIM:224750 WNT10A 80326 HP:0000982 Palmoplantar keratoderma OMIM:224750 WNT10A 80326 HP:0008069 Neoplasm of the skin OMIM:224750 WNT10A 80326 HP:0001006 Hypotrichosis OMIM:224750 WNT10A 80326 HP:0001792 Small nail OMIM:224750 WNT10A 80326 HP:0001816 Thin nail OMIM:224750 WNT10A 80326 HP:0000668 Hypodontia OMIM:224750 WNT10A 80326 HP:0000968 Ectodermal dysplasia OMIM:614096 AARS2 57505 HP:0001639 Hypertrophic cardiomyopathy OMIM:614096 AARS2 57505 HP:0003324 Generalized muscle weakness OMIM:614096 AARS2 57505 HP:0001508 Failure to thrive OMIM:614096 AARS2 57505 HP:0003128 Lactic acidosis OMIM:614096 AARS2 57505 HP:0002151 Increased serum lactate OMIM:614096 AARS2 57505 HP:0002353 EEG abnormality OMIM:614096 AARS2 57505 HP:0002089 Pulmonary hypoplasia OMIM:614096 AARS2 57505 HP:0001522 Death in infancy OMIM:614096 AARS2 57505 HP:0000007 Autosomal recessive inheritance OMIM:616228 ALG2 85365 HP:0003691 Scapular winging OMIM:616228 ALG2 85365 HP:0001371 Flexion contracture OMIM:616228 ALG2 85365 HP:0002650 Scoliosis OMIM:616228 ALG2 85365 HP:0003391 Gowers sign OMIM:616228 ALG2 85365 HP:0001270 Motor delay OMIM:616228 ALG2 85365 HP:0003307 Hyperlordosis OMIM:616228 ALG2 85365 HP:0003325 Limb-girdle muscle weakness OMIM:616228 ALG2 85365 HP:0000218 High palate OMIM:616228 ALG2 85365 HP:0001252 Muscular hypotonia OMIM:616228 ALG2 85365 HP:0003200 Ragged-red muscle fibers OMIM:616228 ALG2 85365 HP:0002515 Waddling gait OMIM:616228 ALG2 85365 HP:0008180 Mildly elevated creatine phosphokinase OMIM:616228 ALG2 85365 HP:0003473 Fatigable weakness OMIM:616228 ALG2 85365 HP:0001763 Pes planus OMIM:607482 CSRP3 8048 HP:0001706 Endocardial fibroelastosis OMIM:607482 CSRP3 8048 HP:0001644 Dilated cardiomyopathy OMIM:607482 CSRP3 8048 HP:0006670 Impaired myocardial contractility OMIM:607482 CSRP3 8048 HP:0000006 Autosomal dominant inheritance OMIM:278150 LPAR6 10161 HP:0002286 Fair hair OMIM:278150 LPAR6 10161 HP:0001803 Nail pits OMIM:278150 LPAR6 10161 HP:0000653 Sparse eyelashes OMIM:278150 LPAR6 10161 HP:0011359 Dry hair OMIM:278150 LPAR6 10161 HP:0000535 Sparse eyebrow OMIM:278150 LPAR6 10161 HP:0002215 Sparse axillary hair OMIM:278150 LPAR6 10161 HP:0000006 Autosomal dominant inheritance OMIM:278150 LPAR6 10161 HP:0002224 Woolly hair OMIM:278150 LPAR6 10161 HP:0001807 Ridged nail OMIM:278150 LPAR6 10161 HP:0002209 Sparse scalp hair OMIM:278150 LPAR6 10161 HP:0002208 Coarse hair OMIM:278150 LPAR6 10161 HP:0001006 Hypotrichosis OMIM:278150 LPAR6 10161 HP:0000007 Autosomal recessive inheritance OMIM:604765 DES 1674 HP:0000006 Autosomal dominant inheritance OMIM:604765 DES 1674 HP:0001644 Dilated cardiomyopathy OMIM:604765 DES 1674 HP:0006673 Reduced systolic function OMIM:616056 KCNB1 3745 HP:0002521 Hypsarrhythmia OMIM:616056 KCNB1 3745 HP:0200134 Epileptic encephalopathy OMIM:616056 KCNB1 3745 HP:0001263 Global developmental delay OMIM:616056 KCNB1 3745 HP:0001252 Muscular hypotonia ORPHANET:84 FANCL 55120 HP:0000505 Visual impairment ORPHANET:84 FANCL 55120 HP:0002414 Spina bifida ORPHANET:84 FANCL 55120 HP:0000347 Micrognathia ORPHANET:84 FANCL 55120 HP:0000518 Cataract ORPHANET:84 FANCL 55120 HP:0100760 Clubbing of toes ORPHANET:84 FANCL 55120 HP:0001770 Toe syndactyly ORPHANET:84 FANCL 55120 HP:0000008 Abnormality of female internal genitalia ORPHANET:84 FANCL 55120 HP:0000486 Strabismus ORPHANET:84 FANCL 55120 HP:0001643 Patent ductus arteriosus ORPHANET:84 FANCL 55120 HP:0005344 Abnormality of the carotid arteries ORPHANET:84 FANCL 55120 HP:0000483 Astigmatism ORPHANET:84 FANCL 55120 HP:0100587 Abnormality of the preputium ORPHANET:84 FANCL 55120 HP:0000252 Microcephaly ORPHANET:84 FANCL 55120 HP:0004209 Clinodactyly of the 5th finger ORPHANET:84 FANCL 55120 HP:0002251 Aganglionic megacolon ORPHANET:84 FANCL 55120 HP:0000025 Functional abnormality of male internal genitalia ORPHANET:84 FANCL 55120 HP:0001053 Hypopigmented skin patches ORPHANET:84 FANCL 55120 HP:0001824 Weight loss ORPHANET:84 FANCL 55120 HP:0006101 Finger syndactyly ORPHANET:84 FANCL 55120 HP:0000238 Hydrocephalus ORPHANET:84 FANCL 55120 HP:0003272 Abnormality of the hip bone ORPHANET:84 FANCL 55120 HP:0000581 Blepharophimosis ORPHANET:84 FANCL 55120 HP:0002245 Meckel diverticulum ORPHANET:84 FANCL 55120 HP:0007400 Irregular hyperpigmentation ORPHANET:84 FANCL 55120 HP:0000028 Cryptorchidism ORPHANET:84 FANCL 55120 HP:0010293 Aplasia/Hypoplasia of the uvula ORPHANET:84 FANCL 55120 HP:0001347 Hyperreflexia ORPHANET:84 FANCL 55120 HP:0001763 Pes planus ORPHANET:84 FANCL 55120 HP:0002823 Abnormality of the femur ORPHANET:84 FANCL 55120 HP:0000340 Sloping forehead ORPHANET:84 FANCL 55120 HP:0004322 Short stature ORPHANET:84 FANCL 55120 HP:0001636 Tetralogy of Fallot ORPHANET:84 FANCL 55120 HP:0100026 Arteriovenous malformation ORPHANET:84 FANCL 55120 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:84 FANCL 55120 HP:0008678 Renal hypoplasia/aplasia ORPHANET:84 FANCL 55120 HP:0000324 Facial asymmetry ORPHANET:84 FANCL 55120 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:84 FANCL 55120 HP:0100543 Cognitive impairment ORPHANET:84 FANCL 55120 HP:0001646 Abnormality of the aortic valve ORPHANET:84 FANCL 55120 HP:0000365 Hearing impairment ORPHANET:84 FANCL 55120 HP:0000520 Proptosis ORPHANET:84 FANCL 55120 HP:0000639 Nystagmus ORPHANET:84 FANCL 55120 HP:0000268 Dolichocephaly ORPHANET:84 FANCL 55120 HP:0001537 Umbilical hernia ORPHANET:84 FANCL 55120 HP:0000957 Cafe-au-lait spot ORPHANET:84 FANCL 55120 HP:0100627 Displacement of the external urethral meatus ORPHANET:84 FANCL 55120 HP:0100589 Urogenital fistula ORPHANET:84 FANCL 55120 HP:0002997 Abnormality of the ulna ORPHANET:84 FANCL 55120 HP:0000010 Recurrent urinary tract infections ORPHANET:84 FANCL 55120 HP:0000083 Renal insufficiency ORPHANET:84 FANCL 55120 HP:0004349 Reduced bone mineral density ORPHANET:84 FANCL 55120 HP:0001679 Abnormality of the aorta ORPHANET:84 FANCL 55120 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:84 FANCL 55120 HP:0002650 Scoliosis ORPHANET:84 FANCL 55120 HP:0001631 Defect in the atrial septum ORPHANET:84 FANCL 55120 HP:0000453 Choanal atresia ORPHANET:84 FANCL 55120 HP:0100542 Abnormal localization of kidney ORPHANET:84 FANCL 55120 HP:0006824 Cranial nerve paralysis ORPHANET:84 FANCL 55120 HP:0001562 Oligohydramnios ORPHANET:84 FANCL 55120 HP:0002575 Tracheoesophageal fistula ORPHANET:84 FANCL 55120 HP:0003220 Abnormality of chromosome stability ORPHANET:84 FANCL 55120 HP:0001511 Intrauterine growth retardation ORPHANET:84 FANCL 55120 HP:0002119 Ventriculomegaly ORPHANET:84 FANCL 55120 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:84 FANCL 55120 HP:0000175 Cleft palate ORPHANET:84 FANCL 55120 HP:0002007 Frontal bossing ORPHANET:84 FANCL 55120 HP:0005528 Bone marrow hypocellularity ORPHANET:84 FANCL 55120 HP:0100867 Duodenal stenosis ORPHANET:84 FANCL 55120 HP:0000316 Hypertelorism ORPHANET:84 FANCL 55120 HP:0000582 Upslanted palpebral fissure ORPHANET:84 FANCL 55120 HP:0000508 Ptosis ORPHANET:84 FANCL 55120 HP:0001199 Triphalangeal thumb ORPHANET:84 FANCL 55120 HP:0001392 Abnormality of the liver ORPHANET:84 FANCL 55120 HP:0001882 Leukopenia ORPHANET:84 FANCL 55120 HP:0001873 Thrombocytopenia ORPHANET:84 FANCL 55120 HP:0002863 Myelodysplasia ORPHANET:84 FANCL 55120 HP:0001903 Anemia ORPHANET:84 FANCL 55120 HP:0000286 Epicanthus ORPHANET:84 FANCL 55120 HP:0008572 External ear malformation ORPHANET:84 FANCA 2175 HP:0000505 Visual impairment ORPHANET:84 FANCA 2175 HP:0002414 Spina bifida ORPHANET:84 FANCA 2175 HP:0000347 Micrognathia ORPHANET:84 FANCA 2175 HP:0000518 Cataract ORPHANET:84 FANCA 2175 HP:0100760 Clubbing of toes ORPHANET:84 FANCA 2175 HP:0001770 Toe syndactyly ORPHANET:84 FANCA 2175 HP:0000008 Abnormality of female internal genitalia ORPHANET:84 FANCA 2175 HP:0000486 Strabismus ORPHANET:84 FANCA 2175 HP:0001643 Patent ductus arteriosus ORPHANET:84 FANCA 2175 HP:0005344 Abnormality of the carotid arteries ORPHANET:84 FANCA 2175 HP:0000483 Astigmatism ORPHANET:84 FANCA 2175 HP:0100587 Abnormality of the preputium ORPHANET:84 FANCA 2175 HP:0000252 Microcephaly ORPHANET:84 FANCA 2175 HP:0004209 Clinodactyly of the 5th finger ORPHANET:84 FANCA 2175 HP:0002251 Aganglionic megacolon ORPHANET:84 FANCA 2175 HP:0000025 Functional abnormality of male internal genitalia ORPHANET:84 FANCA 2175 HP:0001053 Hypopigmented skin patches ORPHANET:84 FANCA 2175 HP:0001824 Weight loss ORPHANET:84 FANCA 2175 HP:0006101 Finger syndactyly ORPHANET:84 FANCA 2175 HP:0000238 Hydrocephalus ORPHANET:84 FANCA 2175 HP:0003272 Abnormality of the hip bone ORPHANET:84 FANCA 2175 HP:0000581 Blepharophimosis ORPHANET:84 FANCA 2175 HP:0002245 Meckel diverticulum ORPHANET:84 FANCA 2175 HP:0007400 Irregular hyperpigmentation ORPHANET:84 FANCA 2175 HP:0000028 Cryptorchidism ORPHANET:84 FANCA 2175 HP:0010293 Aplasia/Hypoplasia of the uvula ORPHANET:84 FANCA 2175 HP:0001347 Hyperreflexia ORPHANET:84 FANCA 2175 HP:0001763 Pes planus ORPHANET:84 FANCA 2175 HP:0002823 Abnormality of the femur ORPHANET:84 FANCA 2175 HP:0000340 Sloping forehead ORPHANET:84 FANCA 2175 HP:0004322 Short stature ORPHANET:84 FANCA 2175 HP:0001636 Tetralogy of Fallot ORPHANET:84 FANCA 2175 HP:0100026 Arteriovenous malformation ORPHANET:84 FANCA 2175 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:84 FANCA 2175 HP:0008678 Renal hypoplasia/aplasia ORPHANET:84 FANCA 2175 HP:0000324 Facial asymmetry ORPHANET:84 FANCA 2175 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:84 FANCA 2175 HP:0100543 Cognitive impairment ORPHANET:84 FANCA 2175 HP:0001646 Abnormality of the aortic valve ORPHANET:84 FANCA 2175 HP:0000365 Hearing impairment ORPHANET:84 FANCA 2175 HP:0000520 Proptosis ORPHANET:84 FANCA 2175 HP:0000639 Nystagmus ORPHANET:84 FANCA 2175 HP:0000268 Dolichocephaly ORPHANET:84 FANCA 2175 HP:0001537 Umbilical hernia ORPHANET:84 FANCA 2175 HP:0000957 Cafe-au-lait spot ORPHANET:84 FANCA 2175 HP:0100627 Displacement of the external urethral meatus ORPHANET:84 FANCA 2175 HP:0100589 Urogenital fistula ORPHANET:84 FANCA 2175 HP:0002997 Abnormality of the ulna ORPHANET:84 FANCA 2175 HP:0000010 Recurrent urinary tract infections ORPHANET:84 FANCA 2175 HP:0000083 Renal insufficiency ORPHANET:84 FANCA 2175 HP:0004349 Reduced bone mineral density ORPHANET:84 FANCA 2175 HP:0001679 Abnormality of the aorta ORPHANET:84 FANCA 2175 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:84 FANCA 2175 HP:0002650 Scoliosis ORPHANET:84 FANCA 2175 HP:0001631 Defect in the atrial septum ORPHANET:84 FANCA 2175 HP:0000453 Choanal atresia ORPHANET:84 FANCA 2175 HP:0100542 Abnormal localization of kidney ORPHANET:84 FANCA 2175 HP:0006824 Cranial nerve paralysis ORPHANET:84 FANCA 2175 HP:0001562 Oligohydramnios ORPHANET:84 FANCA 2175 HP:0002575 Tracheoesophageal fistula ORPHANET:84 FANCA 2175 HP:0003220 Abnormality of chromosome stability ORPHANET:84 FANCA 2175 HP:0001511 Intrauterine growth retardation ORPHANET:84 FANCA 2175 HP:0002119 Ventriculomegaly ORPHANET:84 FANCA 2175 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:84 FANCA 2175 HP:0000175 Cleft palate ORPHANET:84 FANCA 2175 HP:0002007 Frontal bossing ORPHANET:84 FANCA 2175 HP:0005528 Bone marrow hypocellularity ORPHANET:84 FANCA 2175 HP:0100867 Duodenal stenosis ORPHANET:84 FANCA 2175 HP:0000316 Hypertelorism ORPHANET:84 FANCA 2175 HP:0000582 Upslanted palpebral fissure ORPHANET:84 FANCA 2175 HP:0000508 Ptosis ORPHANET:84 FANCA 2175 HP:0001199 Triphalangeal thumb ORPHANET:84 FANCA 2175 HP:0001392 Abnormality of the liver ORPHANET:84 FANCA 2175 HP:0001882 Leukopenia ORPHANET:84 FANCA 2175 HP:0001873 Thrombocytopenia ORPHANET:84 FANCA 2175 HP:0002863 Myelodysplasia ORPHANET:84 FANCA 2175 HP:0001903 Anemia ORPHANET:84 FANCA 2175 HP:0000286 Epicanthus ORPHANET:84 FANCA 2175 HP:0008572 External ear malformation ORPHANET:84 SLX4 84464 HP:0000505 Visual impairment ORPHANET:84 SLX4 84464 HP:0002414 Spina bifida ORPHANET:84 SLX4 84464 HP:0000347 Micrognathia ORPHANET:84 SLX4 84464 HP:0000518 Cataract ORPHANET:84 SLX4 84464 HP:0100760 Clubbing of toes ORPHANET:84 SLX4 84464 HP:0001770 Toe syndactyly ORPHANET:84 SLX4 84464 HP:0000008 Abnormality of female internal genitalia ORPHANET:84 SLX4 84464 HP:0000486 Strabismus ORPHANET:84 SLX4 84464 HP:0001643 Patent ductus arteriosus ORPHANET:84 SLX4 84464 HP:0005344 Abnormality of the carotid arteries ORPHANET:84 SLX4 84464 HP:0000483 Astigmatism ORPHANET:84 SLX4 84464 HP:0100587 Abnormality of the preputium ORPHANET:84 SLX4 84464 HP:0000252 Microcephaly ORPHANET:84 SLX4 84464 HP:0004209 Clinodactyly of the 5th finger ORPHANET:84 SLX4 84464 HP:0002251 Aganglionic megacolon ORPHANET:84 SLX4 84464 HP:0000025 Functional abnormality of male internal genitalia ORPHANET:84 SLX4 84464 HP:0001053 Hypopigmented skin patches ORPHANET:84 SLX4 84464 HP:0001824 Weight loss ORPHANET:84 SLX4 84464 HP:0006101 Finger syndactyly ORPHANET:84 SLX4 84464 HP:0000238 Hydrocephalus ORPHANET:84 SLX4 84464 HP:0003272 Abnormality of the hip bone ORPHANET:84 SLX4 84464 HP:0000581 Blepharophimosis ORPHANET:84 SLX4 84464 HP:0002245 Meckel diverticulum ORPHANET:84 SLX4 84464 HP:0007400 Irregular hyperpigmentation ORPHANET:84 SLX4 84464 HP:0000028 Cryptorchidism ORPHANET:84 SLX4 84464 HP:0010293 Aplasia/Hypoplasia of the uvula ORPHANET:84 SLX4 84464 HP:0001347 Hyperreflexia ORPHANET:84 SLX4 84464 HP:0001763 Pes planus ORPHANET:84 SLX4 84464 HP:0002823 Abnormality of the femur ORPHANET:84 SLX4 84464 HP:0000340 Sloping forehead ORPHANET:84 SLX4 84464 HP:0004322 Short stature ORPHANET:84 SLX4 84464 HP:0001636 Tetralogy of Fallot ORPHANET:84 SLX4 84464 HP:0100026 Arteriovenous malformation ORPHANET:84 SLX4 84464 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:84 SLX4 84464 HP:0008678 Renal hypoplasia/aplasia ORPHANET:84 SLX4 84464 HP:0000324 Facial asymmetry ORPHANET:84 SLX4 84464 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:84 SLX4 84464 HP:0100543 Cognitive impairment ORPHANET:84 SLX4 84464 HP:0001646 Abnormality of the aortic valve ORPHANET:84 SLX4 84464 HP:0000365 Hearing impairment ORPHANET:84 SLX4 84464 HP:0000520 Proptosis ORPHANET:84 SLX4 84464 HP:0000639 Nystagmus ORPHANET:84 SLX4 84464 HP:0000268 Dolichocephaly ORPHANET:84 SLX4 84464 HP:0001537 Umbilical hernia ORPHANET:84 SLX4 84464 HP:0000957 Cafe-au-lait spot ORPHANET:84 SLX4 84464 HP:0100627 Displacement of the external urethral meatus ORPHANET:84 SLX4 84464 HP:0100589 Urogenital fistula ORPHANET:84 SLX4 84464 HP:0002997 Abnormality of the ulna ORPHANET:84 SLX4 84464 HP:0000010 Recurrent urinary tract infections ORPHANET:84 SLX4 84464 HP:0000083 Renal insufficiency ORPHANET:84 SLX4 84464 HP:0004349 Reduced bone mineral density ORPHANET:84 SLX4 84464 HP:0001679 Abnormality of the aorta ORPHANET:84 SLX4 84464 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:84 SLX4 84464 HP:0002650 Scoliosis ORPHANET:84 SLX4 84464 HP:0001631 Defect in the atrial septum ORPHANET:84 SLX4 84464 HP:0000453 Choanal atresia ORPHANET:84 SLX4 84464 HP:0100542 Abnormal localization of kidney ORPHANET:84 SLX4 84464 HP:0006824 Cranial nerve paralysis ORPHANET:84 SLX4 84464 HP:0001562 Oligohydramnios ORPHANET:84 SLX4 84464 HP:0002575 Tracheoesophageal fistula ORPHANET:84 SLX4 84464 HP:0003220 Abnormality of chromosome stability ORPHANET:84 SLX4 84464 HP:0001511 Intrauterine growth retardation ORPHANET:84 SLX4 84464 HP:0002119 Ventriculomegaly ORPHANET:84 SLX4 84464 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:84 SLX4 84464 HP:0000175 Cleft palate ORPHANET:84 SLX4 84464 HP:0002007 Frontal bossing ORPHANET:84 SLX4 84464 HP:0005528 Bone marrow hypocellularity ORPHANET:84 SLX4 84464 HP:0100867 Duodenal stenosis ORPHANET:84 SLX4 84464 HP:0000316 Hypertelorism ORPHANET:84 SLX4 84464 HP:0000582 Upslanted palpebral fissure ORPHANET:84 SLX4 84464 HP:0000508 Ptosis ORPHANET:84 SLX4 84464 HP:0001199 Triphalangeal thumb ORPHANET:84 SLX4 84464 HP:0001392 Abnormality of the liver ORPHANET:84 SLX4 84464 HP:0001882 Leukopenia ORPHANET:84 SLX4 84464 HP:0001873 Thrombocytopenia ORPHANET:84 SLX4 84464 HP:0002863 Myelodysplasia ORPHANET:84 SLX4 84464 HP:0001903 Anemia ORPHANET:84 SLX4 84464 HP:0000286 Epicanthus ORPHANET:84 SLX4 84464 HP:0008572 External ear malformation ORPHANET:84 ERCC4 2072 HP:0000505 Visual impairment ORPHANET:84 ERCC4 2072 HP:0002414 Spina bifida ORPHANET:84 ERCC4 2072 HP:0000347 Micrognathia ORPHANET:84 ERCC4 2072 HP:0000518 Cataract ORPHANET:84 ERCC4 2072 HP:0100760 Clubbing of toes ORPHANET:84 ERCC4 2072 HP:0001770 Toe syndactyly ORPHANET:84 ERCC4 2072 HP:0000008 Abnormality of female internal genitalia ORPHANET:84 ERCC4 2072 HP:0000486 Strabismus ORPHANET:84 ERCC4 2072 HP:0001643 Patent ductus arteriosus ORPHANET:84 ERCC4 2072 HP:0005344 Abnormality of the carotid arteries ORPHANET:84 ERCC4 2072 HP:0000483 Astigmatism ORPHANET:84 ERCC4 2072 HP:0100587 Abnormality of the preputium ORPHANET:84 ERCC4 2072 HP:0000252 Microcephaly ORPHANET:84 ERCC4 2072 HP:0004209 Clinodactyly of the 5th finger ORPHANET:84 ERCC4 2072 HP:0002251 Aganglionic megacolon ORPHANET:84 ERCC4 2072 HP:0000025 Functional abnormality of male internal genitalia ORPHANET:84 ERCC4 2072 HP:0001053 Hypopigmented skin patches ORPHANET:84 ERCC4 2072 HP:0001824 Weight loss ORPHANET:84 ERCC4 2072 HP:0006101 Finger syndactyly ORPHANET:84 ERCC4 2072 HP:0000238 Hydrocephalus ORPHANET:84 ERCC4 2072 HP:0003272 Abnormality of the hip bone ORPHANET:84 ERCC4 2072 HP:0000581 Blepharophimosis ORPHANET:84 ERCC4 2072 HP:0002245 Meckel diverticulum ORPHANET:84 ERCC4 2072 HP:0007400 Irregular hyperpigmentation ORPHANET:84 ERCC4 2072 HP:0000028 Cryptorchidism ORPHANET:84 ERCC4 2072 HP:0010293 Aplasia/Hypoplasia of the uvula ORPHANET:84 ERCC4 2072 HP:0001347 Hyperreflexia ORPHANET:84 ERCC4 2072 HP:0001763 Pes planus ORPHANET:84 ERCC4 2072 HP:0002823 Abnormality of the femur ORPHANET:84 ERCC4 2072 HP:0000340 Sloping forehead ORPHANET:84 ERCC4 2072 HP:0004322 Short stature ORPHANET:84 ERCC4 2072 HP:0001636 Tetralogy of Fallot ORPHANET:84 ERCC4 2072 HP:0100026 Arteriovenous malformation ORPHANET:84 ERCC4 2072 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:84 ERCC4 2072 HP:0008678 Renal hypoplasia/aplasia ORPHANET:84 ERCC4 2072 HP:0000324 Facial asymmetry ORPHANET:84 ERCC4 2072 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:84 ERCC4 2072 HP:0100543 Cognitive impairment ORPHANET:84 ERCC4 2072 HP:0001646 Abnormality of the aortic valve ORPHANET:84 ERCC4 2072 HP:0000365 Hearing impairment ORPHANET:84 ERCC4 2072 HP:0000520 Proptosis ORPHANET:84 ERCC4 2072 HP:0000639 Nystagmus ORPHANET:84 ERCC4 2072 HP:0000268 Dolichocephaly ORPHANET:84 ERCC4 2072 HP:0001537 Umbilical hernia ORPHANET:84 ERCC4 2072 HP:0000957 Cafe-au-lait spot ORPHANET:84 ERCC4 2072 HP:0100627 Displacement of the external urethral meatus ORPHANET:84 ERCC4 2072 HP:0100589 Urogenital fistula ORPHANET:84 ERCC4 2072 HP:0002997 Abnormality of the ulna ORPHANET:84 ERCC4 2072 HP:0000010 Recurrent urinary tract infections ORPHANET:84 ERCC4 2072 HP:0000083 Renal insufficiency ORPHANET:84 ERCC4 2072 HP:0004349 Reduced bone mineral density ORPHANET:84 ERCC4 2072 HP:0001679 Abnormality of the aorta ORPHANET:84 ERCC4 2072 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:84 ERCC4 2072 HP:0002650 Scoliosis ORPHANET:84 ERCC4 2072 HP:0001631 Defect in the atrial septum ORPHANET:84 ERCC4 2072 HP:0000453 Choanal atresia ORPHANET:84 ERCC4 2072 HP:0100542 Abnormal localization of kidney ORPHANET:84 ERCC4 2072 HP:0006824 Cranial nerve paralysis ORPHANET:84 ERCC4 2072 HP:0001562 Oligohydramnios ORPHANET:84 ERCC4 2072 HP:0002575 Tracheoesophageal fistula ORPHANET:84 ERCC4 2072 HP:0003220 Abnormality of chromosome stability ORPHANET:84 ERCC4 2072 HP:0001511 Intrauterine growth retardation ORPHANET:84 ERCC4 2072 HP:0002119 Ventriculomegaly ORPHANET:84 ERCC4 2072 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:84 ERCC4 2072 HP:0000175 Cleft palate ORPHANET:84 ERCC4 2072 HP:0002007 Frontal bossing ORPHANET:84 ERCC4 2072 HP:0005528 Bone marrow hypocellularity ORPHANET:84 ERCC4 2072 HP:0100867 Duodenal stenosis ORPHANET:84 ERCC4 2072 HP:0000316 Hypertelorism ORPHANET:84 ERCC4 2072 HP:0000582 Upslanted palpebral fissure ORPHANET:84 ERCC4 2072 HP:0000508 Ptosis ORPHANET:84 ERCC4 2072 HP:0001199 Triphalangeal thumb ORPHANET:84 ERCC4 2072 HP:0001392 Abnormality of the liver ORPHANET:84 ERCC4 2072 HP:0001882 Leukopenia ORPHANET:84 ERCC4 2072 HP:0001873 Thrombocytopenia ORPHANET:84 ERCC4 2072 HP:0002863 Myelodysplasia ORPHANET:84 ERCC4 2072 HP:0001903 Anemia ORPHANET:84 ERCC4 2072 HP:0000286 Epicanthus ORPHANET:84 ERCC4 2072 HP:0008572 External ear malformation ORPHANET:84 BRCA2 675 HP:0000505 Visual impairment ORPHANET:84 BRCA2 675 HP:0002414 Spina bifida ORPHANET:84 BRCA2 675 HP:0000347 Micrognathia ORPHANET:84 BRCA2 675 HP:0000518 Cataract ORPHANET:84 BRCA2 675 HP:0100760 Clubbing of toes ORPHANET:84 BRCA2 675 HP:0001770 Toe syndactyly ORPHANET:84 BRCA2 675 HP:0000008 Abnormality of female internal genitalia ORPHANET:84 BRCA2 675 HP:0000486 Strabismus ORPHANET:84 BRCA2 675 HP:0001643 Patent ductus arteriosus ORPHANET:84 BRCA2 675 HP:0005344 Abnormality of the carotid arteries ORPHANET:84 BRCA2 675 HP:0000483 Astigmatism ORPHANET:84 BRCA2 675 HP:0100587 Abnormality of the preputium ORPHANET:84 BRCA2 675 HP:0000252 Microcephaly ORPHANET:84 BRCA2 675 HP:0004209 Clinodactyly of the 5th finger ORPHANET:84 BRCA2 675 HP:0002251 Aganglionic megacolon ORPHANET:84 BRCA2 675 HP:0000025 Functional abnormality of male internal genitalia ORPHANET:84 BRCA2 675 HP:0001053 Hypopigmented skin patches ORPHANET:84 BRCA2 675 HP:0001824 Weight loss ORPHANET:84 BRCA2 675 HP:0006101 Finger syndactyly ORPHANET:84 BRCA2 675 HP:0000238 Hydrocephalus ORPHANET:84 BRCA2 675 HP:0003272 Abnormality of the hip bone ORPHANET:84 BRCA2 675 HP:0000581 Blepharophimosis ORPHANET:84 BRCA2 675 HP:0002245 Meckel diverticulum ORPHANET:84 BRCA2 675 HP:0007400 Irregular hyperpigmentation ORPHANET:84 BRCA2 675 HP:0000028 Cryptorchidism ORPHANET:84 BRCA2 675 HP:0010293 Aplasia/Hypoplasia of the uvula ORPHANET:84 BRCA2 675 HP:0001347 Hyperreflexia ORPHANET:84 BRCA2 675 HP:0001763 Pes planus ORPHANET:84 BRCA2 675 HP:0002823 Abnormality of the femur ORPHANET:84 BRCA2 675 HP:0000340 Sloping forehead ORPHANET:84 BRCA2 675 HP:0004322 Short stature ORPHANET:84 BRCA2 675 HP:0001636 Tetralogy of Fallot ORPHANET:84 BRCA2 675 HP:0100026 Arteriovenous malformation ORPHANET:84 BRCA2 675 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:84 BRCA2 675 HP:0008678 Renal hypoplasia/aplasia ORPHANET:84 BRCA2 675 HP:0000324 Facial asymmetry ORPHANET:84 BRCA2 675 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:84 BRCA2 675 HP:0100543 Cognitive impairment ORPHANET:84 BRCA2 675 HP:0001646 Abnormality of the aortic valve ORPHANET:84 BRCA2 675 HP:0000365 Hearing impairment ORPHANET:84 BRCA2 675 HP:0000520 Proptosis ORPHANET:84 BRCA2 675 HP:0000639 Nystagmus ORPHANET:84 BRCA2 675 HP:0000268 Dolichocephaly ORPHANET:84 BRCA2 675 HP:0001537 Umbilical hernia ORPHANET:84 BRCA2 675 HP:0000957 Cafe-au-lait spot ORPHANET:84 BRCA2 675 HP:0100627 Displacement of the external urethral meatus ORPHANET:84 BRCA2 675 HP:0100589 Urogenital fistula ORPHANET:84 BRCA2 675 HP:0002997 Abnormality of the ulna ORPHANET:84 BRCA2 675 HP:0000010 Recurrent urinary tract infections ORPHANET:84 BRCA2 675 HP:0000083 Renal insufficiency ORPHANET:84 BRCA2 675 HP:0004349 Reduced bone mineral density ORPHANET:84 BRCA2 675 HP:0001679 Abnormality of the aorta ORPHANET:84 BRCA2 675 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:84 BRCA2 675 HP:0002650 Scoliosis ORPHANET:84 BRCA2 675 HP:0001631 Defect in the atrial septum ORPHANET:84 BRCA2 675 HP:0000453 Choanal atresia ORPHANET:84 BRCA2 675 HP:0100542 Abnormal localization of kidney ORPHANET:84 BRCA2 675 HP:0006824 Cranial nerve paralysis ORPHANET:84 BRCA2 675 HP:0001562 Oligohydramnios ORPHANET:84 BRCA2 675 HP:0002575 Tracheoesophageal fistula ORPHANET:84 BRCA2 675 HP:0003220 Abnormality of chromosome stability ORPHANET:84 BRCA2 675 HP:0001511 Intrauterine growth retardation ORPHANET:84 BRCA2 675 HP:0002119 Ventriculomegaly ORPHANET:84 BRCA2 675 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:84 BRCA2 675 HP:0000175 Cleft palate ORPHANET:84 BRCA2 675 HP:0002007 Frontal bossing ORPHANET:84 BRCA2 675 HP:0005528 Bone marrow hypocellularity ORPHANET:84 BRCA2 675 HP:0100867 Duodenal stenosis ORPHANET:84 BRCA2 675 HP:0000316 Hypertelorism ORPHANET:84 BRCA2 675 HP:0000582 Upslanted palpebral fissure ORPHANET:84 BRCA2 675 HP:0000508 Ptosis ORPHANET:84 BRCA2 675 HP:0001199 Triphalangeal thumb ORPHANET:84 BRCA2 675 HP:0001392 Abnormality of the liver ORPHANET:84 BRCA2 675 HP:0001882 Leukopenia ORPHANET:84 BRCA2 675 HP:0001873 Thrombocytopenia ORPHANET:84 BRCA2 675 HP:0002863 Myelodysplasia ORPHANET:84 BRCA2 675 HP:0001903 Anemia ORPHANET:84 BRCA2 675 HP:0000286 Epicanthus ORPHANET:84 BRCA2 675 HP:0008572 External ear malformation ORPHANET:84 BRIP1 83990 HP:0000505 Visual impairment ORPHANET:84 BRIP1 83990 HP:0002414 Spina bifida ORPHANET:84 BRIP1 83990 HP:0000347 Micrognathia ORPHANET:84 BRIP1 83990 HP:0000518 Cataract ORPHANET:84 BRIP1 83990 HP:0100760 Clubbing of toes ORPHANET:84 BRIP1 83990 HP:0001770 Toe syndactyly ORPHANET:84 BRIP1 83990 HP:0000008 Abnormality of female internal genitalia ORPHANET:84 BRIP1 83990 HP:0000486 Strabismus ORPHANET:84 BRIP1 83990 HP:0001643 Patent ductus arteriosus ORPHANET:84 BRIP1 83990 HP:0005344 Abnormality of the carotid arteries ORPHANET:84 BRIP1 83990 HP:0000483 Astigmatism ORPHANET:84 BRIP1 83990 HP:0100587 Abnormality of the preputium ORPHANET:84 BRIP1 83990 HP:0000252 Microcephaly ORPHANET:84 BRIP1 83990 HP:0004209 Clinodactyly of the 5th finger ORPHANET:84 BRIP1 83990 HP:0002251 Aganglionic megacolon ORPHANET:84 BRIP1 83990 HP:0000025 Functional abnormality of male internal genitalia ORPHANET:84 BRIP1 83990 HP:0001053 Hypopigmented skin patches ORPHANET:84 BRIP1 83990 HP:0001824 Weight loss ORPHANET:84 BRIP1 83990 HP:0006101 Finger syndactyly ORPHANET:84 BRIP1 83990 HP:0000238 Hydrocephalus ORPHANET:84 BRIP1 83990 HP:0003272 Abnormality of the hip bone ORPHANET:84 BRIP1 83990 HP:0000581 Blepharophimosis ORPHANET:84 BRIP1 83990 HP:0002245 Meckel diverticulum ORPHANET:84 BRIP1 83990 HP:0007400 Irregular hyperpigmentation ORPHANET:84 BRIP1 83990 HP:0000028 Cryptorchidism ORPHANET:84 BRIP1 83990 HP:0010293 Aplasia/Hypoplasia of the uvula ORPHANET:84 BRIP1 83990 HP:0001347 Hyperreflexia ORPHANET:84 BRIP1 83990 HP:0001763 Pes planus ORPHANET:84 BRIP1 83990 HP:0002823 Abnormality of the femur ORPHANET:84 BRIP1 83990 HP:0000340 Sloping forehead ORPHANET:84 BRIP1 83990 HP:0004322 Short stature ORPHANET:84 BRIP1 83990 HP:0001636 Tetralogy of Fallot ORPHANET:84 BRIP1 83990 HP:0100026 Arteriovenous malformation ORPHANET:84 BRIP1 83990 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:84 BRIP1 83990 HP:0008678 Renal hypoplasia/aplasia ORPHANET:84 BRIP1 83990 HP:0000324 Facial asymmetry ORPHANET:84 BRIP1 83990 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:84 BRIP1 83990 HP:0100543 Cognitive impairment ORPHANET:84 BRIP1 83990 HP:0001646 Abnormality of the aortic valve ORPHANET:84 BRIP1 83990 HP:0000365 Hearing impairment ORPHANET:84 BRIP1 83990 HP:0000520 Proptosis ORPHANET:84 BRIP1 83990 HP:0000639 Nystagmus ORPHANET:84 BRIP1 83990 HP:0000268 Dolichocephaly ORPHANET:84 BRIP1 83990 HP:0001537 Umbilical hernia ORPHANET:84 BRIP1 83990 HP:0000957 Cafe-au-lait spot ORPHANET:84 BRIP1 83990 HP:0100627 Displacement of the external urethral meatus ORPHANET:84 BRIP1 83990 HP:0100589 Urogenital fistula ORPHANET:84 BRIP1 83990 HP:0002997 Abnormality of the ulna ORPHANET:84 BRIP1 83990 HP:0000010 Recurrent urinary tract infections ORPHANET:84 BRIP1 83990 HP:0000083 Renal insufficiency ORPHANET:84 BRIP1 83990 HP:0004349 Reduced bone mineral density ORPHANET:84 BRIP1 83990 HP:0001679 Abnormality of the aorta ORPHANET:84 BRIP1 83990 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:84 BRIP1 83990 HP:0002650 Scoliosis ORPHANET:84 BRIP1 83990 HP:0001631 Defect in the atrial septum ORPHANET:84 BRIP1 83990 HP:0000453 Choanal atresia ORPHANET:84 BRIP1 83990 HP:0100542 Abnormal localization of kidney ORPHANET:84 BRIP1 83990 HP:0006824 Cranial nerve paralysis ORPHANET:84 BRIP1 83990 HP:0001562 Oligohydramnios ORPHANET:84 BRIP1 83990 HP:0002575 Tracheoesophageal fistula ORPHANET:84 BRIP1 83990 HP:0003220 Abnormality of chromosome stability ORPHANET:84 BRIP1 83990 HP:0001511 Intrauterine growth retardation ORPHANET:84 BRIP1 83990 HP:0002119 Ventriculomegaly ORPHANET:84 BRIP1 83990 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:84 BRIP1 83990 HP:0000175 Cleft palate ORPHANET:84 BRIP1 83990 HP:0002007 Frontal bossing ORPHANET:84 BRIP1 83990 HP:0005528 Bone marrow hypocellularity ORPHANET:84 BRIP1 83990 HP:0100867 Duodenal stenosis ORPHANET:84 BRIP1 83990 HP:0000316 Hypertelorism ORPHANET:84 BRIP1 83990 HP:0000582 Upslanted palpebral fissure ORPHANET:84 BRIP1 83990 HP:0000508 Ptosis ORPHANET:84 BRIP1 83990 HP:0001199 Triphalangeal thumb ORPHANET:84 BRIP1 83990 HP:0001392 Abnormality of the liver ORPHANET:84 BRIP1 83990 HP:0001882 Leukopenia ORPHANET:84 BRIP1 83990 HP:0001873 Thrombocytopenia ORPHANET:84 BRIP1 83990 HP:0002863 Myelodysplasia ORPHANET:84 BRIP1 83990 HP:0001903 Anemia ORPHANET:84 BRIP1 83990 HP:0000286 Epicanthus ORPHANET:84 BRIP1 83990 HP:0008572 External ear malformation ORPHANET:84 FANCB 2187 HP:0000505 Visual impairment ORPHANET:84 FANCB 2187 HP:0002414 Spina bifida ORPHANET:84 FANCB 2187 HP:0000347 Micrognathia ORPHANET:84 FANCB 2187 HP:0000518 Cataract ORPHANET:84 FANCB 2187 HP:0100760 Clubbing of toes ORPHANET:84 FANCB 2187 HP:0001770 Toe syndactyly ORPHANET:84 FANCB 2187 HP:0000008 Abnormality of female internal genitalia ORPHANET:84 FANCB 2187 HP:0000486 Strabismus ORPHANET:84 FANCB 2187 HP:0001643 Patent ductus arteriosus ORPHANET:84 FANCB 2187 HP:0005344 Abnormality of the carotid arteries ORPHANET:84 FANCB 2187 HP:0000483 Astigmatism ORPHANET:84 FANCB 2187 HP:0100587 Abnormality of the preputium ORPHANET:84 FANCB 2187 HP:0000252 Microcephaly ORPHANET:84 FANCB 2187 HP:0004209 Clinodactyly of the 5th finger ORPHANET:84 FANCB 2187 HP:0002251 Aganglionic megacolon ORPHANET:84 FANCB 2187 HP:0000025 Functional abnormality of male internal genitalia ORPHANET:84 FANCB 2187 HP:0001053 Hypopigmented skin patches ORPHANET:84 FANCB 2187 HP:0001824 Weight loss ORPHANET:84 FANCB 2187 HP:0006101 Finger syndactyly ORPHANET:84 FANCB 2187 HP:0000238 Hydrocephalus ORPHANET:84 FANCB 2187 HP:0003272 Abnormality of the hip bone ORPHANET:84 FANCB 2187 HP:0000581 Blepharophimosis ORPHANET:84 FANCB 2187 HP:0002245 Meckel diverticulum ORPHANET:84 FANCB 2187 HP:0007400 Irregular hyperpigmentation ORPHANET:84 FANCB 2187 HP:0000028 Cryptorchidism ORPHANET:84 FANCB 2187 HP:0010293 Aplasia/Hypoplasia of the uvula ORPHANET:84 FANCB 2187 HP:0001347 Hyperreflexia ORPHANET:84 FANCB 2187 HP:0001763 Pes planus ORPHANET:84 FANCB 2187 HP:0002823 Abnormality of the femur ORPHANET:84 FANCB 2187 HP:0000340 Sloping forehead ORPHANET:84 FANCB 2187 HP:0004322 Short stature ORPHANET:84 FANCB 2187 HP:0001636 Tetralogy of Fallot ORPHANET:84 FANCB 2187 HP:0100026 Arteriovenous malformation ORPHANET:84 FANCB 2187 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:84 FANCB 2187 HP:0008678 Renal hypoplasia/aplasia ORPHANET:84 FANCB 2187 HP:0000324 Facial asymmetry ORPHANET:84 FANCB 2187 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:84 FANCB 2187 HP:0100543 Cognitive impairment ORPHANET:84 FANCB 2187 HP:0001646 Abnormality of the aortic valve ORPHANET:84 FANCB 2187 HP:0000365 Hearing impairment ORPHANET:84 FANCB 2187 HP:0000520 Proptosis ORPHANET:84 FANCB 2187 HP:0000639 Nystagmus ORPHANET:84 FANCB 2187 HP:0000268 Dolichocephaly ORPHANET:84 FANCB 2187 HP:0001537 Umbilical hernia ORPHANET:84 FANCB 2187 HP:0000957 Cafe-au-lait spot ORPHANET:84 FANCB 2187 HP:0100627 Displacement of the external urethral meatus ORPHANET:84 FANCB 2187 HP:0100589 Urogenital fistula ORPHANET:84 FANCB 2187 HP:0002997 Abnormality of the ulna ORPHANET:84 FANCB 2187 HP:0000010 Recurrent urinary tract infections ORPHANET:84 FANCB 2187 HP:0000083 Renal insufficiency ORPHANET:84 FANCB 2187 HP:0004349 Reduced bone mineral density ORPHANET:84 FANCB 2187 HP:0001679 Abnormality of the aorta ORPHANET:84 FANCB 2187 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:84 FANCB 2187 HP:0002650 Scoliosis ORPHANET:84 FANCB 2187 HP:0001631 Defect in the atrial septum ORPHANET:84 FANCB 2187 HP:0000453 Choanal atresia ORPHANET:84 FANCB 2187 HP:0100542 Abnormal localization of kidney ORPHANET:84 FANCB 2187 HP:0006824 Cranial nerve paralysis ORPHANET:84 FANCB 2187 HP:0001562 Oligohydramnios ORPHANET:84 FANCB 2187 HP:0002575 Tracheoesophageal fistula ORPHANET:84 FANCB 2187 HP:0003220 Abnormality of chromosome stability ORPHANET:84 FANCB 2187 HP:0001511 Intrauterine growth retardation ORPHANET:84 FANCB 2187 HP:0002119 Ventriculomegaly ORPHANET:84 FANCB 2187 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:84 FANCB 2187 HP:0000175 Cleft palate ORPHANET:84 FANCB 2187 HP:0002007 Frontal bossing ORPHANET:84 FANCB 2187 HP:0005528 Bone marrow hypocellularity ORPHANET:84 FANCB 2187 HP:0100867 Duodenal stenosis ORPHANET:84 FANCB 2187 HP:0000316 Hypertelorism ORPHANET:84 FANCB 2187 HP:0000582 Upslanted palpebral fissure ORPHANET:84 FANCB 2187 HP:0000508 Ptosis ORPHANET:84 FANCB 2187 HP:0001199 Triphalangeal thumb ORPHANET:84 FANCB 2187 HP:0001392 Abnormality of the liver ORPHANET:84 FANCB 2187 HP:0001882 Leukopenia ORPHANET:84 FANCB 2187 HP:0001873 Thrombocytopenia ORPHANET:84 FANCB 2187 HP:0002863 Myelodysplasia ORPHANET:84 FANCB 2187 HP:0001903 Anemia ORPHANET:84 FANCB 2187 HP:0000286 Epicanthus ORPHANET:84 FANCB 2187 HP:0008572 External ear malformation ORPHANET:84 FANCG 2189 HP:0000505 Visual impairment ORPHANET:84 FANCG 2189 HP:0002414 Spina bifida ORPHANET:84 FANCG 2189 HP:0000347 Micrognathia ORPHANET:84 FANCG 2189 HP:0000518 Cataract ORPHANET:84 FANCG 2189 HP:0100760 Clubbing of toes ORPHANET:84 FANCG 2189 HP:0001770 Toe syndactyly ORPHANET:84 FANCG 2189 HP:0000008 Abnormality of female internal genitalia ORPHANET:84 FANCG 2189 HP:0000486 Strabismus ORPHANET:84 FANCG 2189 HP:0001643 Patent ductus arteriosus ORPHANET:84 FANCG 2189 HP:0005344 Abnormality of the carotid arteries ORPHANET:84 FANCG 2189 HP:0000483 Astigmatism ORPHANET:84 FANCG 2189 HP:0100587 Abnormality of the preputium ORPHANET:84 FANCG 2189 HP:0000252 Microcephaly ORPHANET:84 FANCG 2189 HP:0004209 Clinodactyly of the 5th finger ORPHANET:84 FANCG 2189 HP:0002251 Aganglionic megacolon ORPHANET:84 FANCG 2189 HP:0000025 Functional abnormality of male internal genitalia ORPHANET:84 FANCG 2189 HP:0001053 Hypopigmented skin patches ORPHANET:84 FANCG 2189 HP:0001824 Weight loss ORPHANET:84 FANCG 2189 HP:0006101 Finger syndactyly ORPHANET:84 FANCG 2189 HP:0000238 Hydrocephalus ORPHANET:84 FANCG 2189 HP:0003272 Abnormality of the hip bone ORPHANET:84 FANCG 2189 HP:0000581 Blepharophimosis ORPHANET:84 FANCG 2189 HP:0002245 Meckel diverticulum ORPHANET:84 FANCG 2189 HP:0007400 Irregular hyperpigmentation ORPHANET:84 FANCG 2189 HP:0000028 Cryptorchidism ORPHANET:84 FANCG 2189 HP:0010293 Aplasia/Hypoplasia of the uvula ORPHANET:84 FANCG 2189 HP:0001347 Hyperreflexia ORPHANET:84 FANCG 2189 HP:0001763 Pes planus ORPHANET:84 FANCG 2189 HP:0002823 Abnormality of the femur ORPHANET:84 FANCG 2189 HP:0000340 Sloping forehead ORPHANET:84 FANCG 2189 HP:0004322 Short stature ORPHANET:84 FANCG 2189 HP:0001636 Tetralogy of Fallot ORPHANET:84 FANCG 2189 HP:0100026 Arteriovenous malformation ORPHANET:84 FANCG 2189 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:84 FANCG 2189 HP:0008678 Renal hypoplasia/aplasia ORPHANET:84 FANCG 2189 HP:0000324 Facial asymmetry ORPHANET:84 FANCG 2189 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:84 FANCG 2189 HP:0100543 Cognitive impairment ORPHANET:84 FANCG 2189 HP:0001646 Abnormality of the aortic valve ORPHANET:84 FANCG 2189 HP:0000365 Hearing impairment ORPHANET:84 FANCG 2189 HP:0000520 Proptosis ORPHANET:84 FANCG 2189 HP:0000639 Nystagmus ORPHANET:84 FANCG 2189 HP:0000268 Dolichocephaly ORPHANET:84 FANCG 2189 HP:0001537 Umbilical hernia ORPHANET:84 FANCG 2189 HP:0000957 Cafe-au-lait spot ORPHANET:84 FANCG 2189 HP:0100627 Displacement of the external urethral meatus ORPHANET:84 FANCG 2189 HP:0100589 Urogenital fistula ORPHANET:84 FANCG 2189 HP:0002997 Abnormality of the ulna ORPHANET:84 FANCG 2189 HP:0000010 Recurrent urinary tract infections ORPHANET:84 FANCG 2189 HP:0000083 Renal insufficiency ORPHANET:84 FANCG 2189 HP:0004349 Reduced bone mineral density ORPHANET:84 FANCG 2189 HP:0001679 Abnormality of the aorta ORPHANET:84 FANCG 2189 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:84 FANCG 2189 HP:0002650 Scoliosis ORPHANET:84 FANCG 2189 HP:0001631 Defect in the atrial septum ORPHANET:84 FANCG 2189 HP:0000453 Choanal atresia ORPHANET:84 FANCG 2189 HP:0100542 Abnormal localization of kidney ORPHANET:84 FANCG 2189 HP:0006824 Cranial nerve paralysis ORPHANET:84 FANCG 2189 HP:0001562 Oligohydramnios ORPHANET:84 FANCG 2189 HP:0002575 Tracheoesophageal fistula ORPHANET:84 FANCG 2189 HP:0003220 Abnormality of chromosome stability ORPHANET:84 FANCG 2189 HP:0001511 Intrauterine growth retardation ORPHANET:84 FANCG 2189 HP:0002119 Ventriculomegaly ORPHANET:84 FANCG 2189 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:84 FANCG 2189 HP:0000175 Cleft palate ORPHANET:84 FANCG 2189 HP:0002007 Frontal bossing ORPHANET:84 FANCG 2189 HP:0005528 Bone marrow hypocellularity ORPHANET:84 FANCG 2189 HP:0100867 Duodenal stenosis ORPHANET:84 FANCG 2189 HP:0000316 Hypertelorism ORPHANET:84 FANCG 2189 HP:0000582 Upslanted palpebral fissure ORPHANET:84 FANCG 2189 HP:0000508 Ptosis ORPHANET:84 FANCG 2189 HP:0001199 Triphalangeal thumb ORPHANET:84 FANCG 2189 HP:0001392 Abnormality of the liver ORPHANET:84 FANCG 2189 HP:0001882 Leukopenia ORPHANET:84 FANCG 2189 HP:0001873 Thrombocytopenia ORPHANET:84 FANCG 2189 HP:0002863 Myelodysplasia ORPHANET:84 FANCG 2189 HP:0001903 Anemia ORPHANET:84 FANCG 2189 HP:0000286 Epicanthus ORPHANET:84 FANCG 2189 HP:0008572 External ear malformation ORPHANET:84 FANCF 2188 HP:0000505 Visual impairment ORPHANET:84 FANCF 2188 HP:0002414 Spina bifida ORPHANET:84 FANCF 2188 HP:0000347 Micrognathia ORPHANET:84 FANCF 2188 HP:0000518 Cataract ORPHANET:84 FANCF 2188 HP:0100760 Clubbing of toes ORPHANET:84 FANCF 2188 HP:0001770 Toe syndactyly ORPHANET:84 FANCF 2188 HP:0000008 Abnormality of female internal genitalia ORPHANET:84 FANCF 2188 HP:0000486 Strabismus ORPHANET:84 FANCF 2188 HP:0001643 Patent ductus arteriosus ORPHANET:84 FANCF 2188 HP:0005344 Abnormality of the carotid arteries ORPHANET:84 FANCF 2188 HP:0000483 Astigmatism ORPHANET:84 FANCF 2188 HP:0100587 Abnormality of the preputium ORPHANET:84 FANCF 2188 HP:0000252 Microcephaly ORPHANET:84 FANCF 2188 HP:0004209 Clinodactyly of the 5th finger ORPHANET:84 FANCF 2188 HP:0002251 Aganglionic megacolon ORPHANET:84 FANCF 2188 HP:0000025 Functional abnormality of male internal genitalia ORPHANET:84 FANCF 2188 HP:0001053 Hypopigmented skin patches ORPHANET:84 FANCF 2188 HP:0001824 Weight loss ORPHANET:84 FANCF 2188 HP:0006101 Finger syndactyly ORPHANET:84 FANCF 2188 HP:0000238 Hydrocephalus ORPHANET:84 FANCF 2188 HP:0003272 Abnormality of the hip bone ORPHANET:84 FANCF 2188 HP:0000581 Blepharophimosis ORPHANET:84 FANCF 2188 HP:0002245 Meckel diverticulum ORPHANET:84 FANCF 2188 HP:0007400 Irregular hyperpigmentation ORPHANET:84 FANCF 2188 HP:0000028 Cryptorchidism ORPHANET:84 FANCF 2188 HP:0010293 Aplasia/Hypoplasia of the uvula ORPHANET:84 FANCF 2188 HP:0001347 Hyperreflexia ORPHANET:84 FANCF 2188 HP:0001763 Pes planus ORPHANET:84 FANCF 2188 HP:0002823 Abnormality of the femur ORPHANET:84 FANCF 2188 HP:0000340 Sloping forehead ORPHANET:84 FANCF 2188 HP:0004322 Short stature ORPHANET:84 FANCF 2188 HP:0001636 Tetralogy of Fallot ORPHANET:84 FANCF 2188 HP:0100026 Arteriovenous malformation ORPHANET:84 FANCF 2188 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:84 FANCF 2188 HP:0008678 Renal hypoplasia/aplasia ORPHANET:84 FANCF 2188 HP:0000324 Facial asymmetry ORPHANET:84 FANCF 2188 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:84 FANCF 2188 HP:0100543 Cognitive impairment ORPHANET:84 FANCF 2188 HP:0001646 Abnormality of the aortic valve ORPHANET:84 FANCF 2188 HP:0000365 Hearing impairment ORPHANET:84 FANCF 2188 HP:0000520 Proptosis ORPHANET:84 FANCF 2188 HP:0000639 Nystagmus ORPHANET:84 FANCF 2188 HP:0000268 Dolichocephaly ORPHANET:84 FANCF 2188 HP:0001537 Umbilical hernia ORPHANET:84 FANCF 2188 HP:0000957 Cafe-au-lait spot ORPHANET:84 FANCF 2188 HP:0100627 Displacement of the external urethral meatus ORPHANET:84 FANCF 2188 HP:0100589 Urogenital fistula ORPHANET:84 FANCF 2188 HP:0002997 Abnormality of the ulna ORPHANET:84 FANCF 2188 HP:0000010 Recurrent urinary tract infections ORPHANET:84 FANCF 2188 HP:0000083 Renal insufficiency ORPHANET:84 FANCF 2188 HP:0004349 Reduced bone mineral density ORPHANET:84 FANCF 2188 HP:0001679 Abnormality of the aorta ORPHANET:84 FANCF 2188 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:84 FANCF 2188 HP:0002650 Scoliosis ORPHANET:84 FANCF 2188 HP:0001631 Defect in the atrial septum ORPHANET:84 FANCF 2188 HP:0000453 Choanal atresia ORPHANET:84 FANCF 2188 HP:0100542 Abnormal localization of kidney ORPHANET:84 FANCF 2188 HP:0006824 Cranial nerve paralysis ORPHANET:84 FANCF 2188 HP:0001562 Oligohydramnios ORPHANET:84 FANCF 2188 HP:0002575 Tracheoesophageal fistula ORPHANET:84 FANCF 2188 HP:0003220 Abnormality of chromosome stability ORPHANET:84 FANCF 2188 HP:0001511 Intrauterine growth retardation ORPHANET:84 FANCF 2188 HP:0002119 Ventriculomegaly ORPHANET:84 FANCF 2188 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:84 FANCF 2188 HP:0000175 Cleft palate ORPHANET:84 FANCF 2188 HP:0002007 Frontal bossing ORPHANET:84 FANCF 2188 HP:0005528 Bone marrow hypocellularity ORPHANET:84 FANCF 2188 HP:0100867 Duodenal stenosis ORPHANET:84 FANCF 2188 HP:0000316 Hypertelorism ORPHANET:84 FANCF 2188 HP:0000582 Upslanted palpebral fissure ORPHANET:84 FANCF 2188 HP:0000508 Ptosis ORPHANET:84 FANCF 2188 HP:0001199 Triphalangeal thumb ORPHANET:84 FANCF 2188 HP:0001392 Abnormality of the liver ORPHANET:84 FANCF 2188 HP:0001882 Leukopenia ORPHANET:84 FANCF 2188 HP:0001873 Thrombocytopenia ORPHANET:84 FANCF 2188 HP:0002863 Myelodysplasia ORPHANET:84 FANCF 2188 HP:0001903 Anemia ORPHANET:84 FANCF 2188 HP:0000286 Epicanthus ORPHANET:84 FANCF 2188 HP:0008572 External ear malformation ORPHANET:84 FANCI 55215 HP:0000505 Visual impairment ORPHANET:84 FANCI 55215 HP:0002414 Spina bifida ORPHANET:84 FANCI 55215 HP:0000347 Micrognathia ORPHANET:84 FANCI 55215 HP:0000518 Cataract ORPHANET:84 FANCI 55215 HP:0100760 Clubbing of toes ORPHANET:84 FANCI 55215 HP:0001770 Toe syndactyly ORPHANET:84 FANCI 55215 HP:0000008 Abnormality of female internal genitalia ORPHANET:84 FANCI 55215 HP:0000486 Strabismus ORPHANET:84 FANCI 55215 HP:0001643 Patent ductus arteriosus ORPHANET:84 FANCI 55215 HP:0005344 Abnormality of the carotid arteries ORPHANET:84 FANCI 55215 HP:0000483 Astigmatism ORPHANET:84 FANCI 55215 HP:0100587 Abnormality of the preputium ORPHANET:84 FANCI 55215 HP:0000252 Microcephaly ORPHANET:84 FANCI 55215 HP:0004209 Clinodactyly of the 5th finger ORPHANET:84 FANCI 55215 HP:0002251 Aganglionic megacolon ORPHANET:84 FANCI 55215 HP:0000025 Functional abnormality of male internal genitalia ORPHANET:84 FANCI 55215 HP:0001053 Hypopigmented skin patches ORPHANET:84 FANCI 55215 HP:0001824 Weight loss ORPHANET:84 FANCI 55215 HP:0006101 Finger syndactyly ORPHANET:84 FANCI 55215 HP:0000238 Hydrocephalus ORPHANET:84 FANCI 55215 HP:0003272 Abnormality of the hip bone ORPHANET:84 FANCI 55215 HP:0000581 Blepharophimosis ORPHANET:84 FANCI 55215 HP:0002245 Meckel diverticulum ORPHANET:84 FANCI 55215 HP:0007400 Irregular hyperpigmentation ORPHANET:84 FANCI 55215 HP:0000028 Cryptorchidism ORPHANET:84 FANCI 55215 HP:0010293 Aplasia/Hypoplasia of the uvula ORPHANET:84 FANCI 55215 HP:0001347 Hyperreflexia ORPHANET:84 FANCI 55215 HP:0001763 Pes planus ORPHANET:84 FANCI 55215 HP:0002823 Abnormality of the femur ORPHANET:84 FANCI 55215 HP:0000340 Sloping forehead ORPHANET:84 FANCI 55215 HP:0004322 Short stature ORPHANET:84 FANCI 55215 HP:0001636 Tetralogy of Fallot ORPHANET:84 FANCI 55215 HP:0100026 Arteriovenous malformation ORPHANET:84 FANCI 55215 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:84 FANCI 55215 HP:0008678 Renal hypoplasia/aplasia ORPHANET:84 FANCI 55215 HP:0000324 Facial asymmetry ORPHANET:84 FANCI 55215 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:84 FANCI 55215 HP:0100543 Cognitive impairment ORPHANET:84 FANCI 55215 HP:0001646 Abnormality of the aortic valve ORPHANET:84 FANCI 55215 HP:0000365 Hearing impairment ORPHANET:84 FANCI 55215 HP:0000520 Proptosis ORPHANET:84 FANCI 55215 HP:0000639 Nystagmus ORPHANET:84 FANCI 55215 HP:0000268 Dolichocephaly ORPHANET:84 FANCI 55215 HP:0001537 Umbilical hernia ORPHANET:84 FANCI 55215 HP:0000957 Cafe-au-lait spot ORPHANET:84 FANCI 55215 HP:0100627 Displacement of the external urethral meatus ORPHANET:84 FANCI 55215 HP:0100589 Urogenital fistula ORPHANET:84 FANCI 55215 HP:0002997 Abnormality of the ulna ORPHANET:84 FANCI 55215 HP:0000010 Recurrent urinary tract infections ORPHANET:84 FANCI 55215 HP:0000083 Renal insufficiency ORPHANET:84 FANCI 55215 HP:0004349 Reduced bone mineral density ORPHANET:84 FANCI 55215 HP:0001679 Abnormality of the aorta ORPHANET:84 FANCI 55215 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:84 FANCI 55215 HP:0002650 Scoliosis ORPHANET:84 FANCI 55215 HP:0001631 Defect in the atrial septum ORPHANET:84 FANCI 55215 HP:0000453 Choanal atresia ORPHANET:84 FANCI 55215 HP:0100542 Abnormal localization of kidney ORPHANET:84 FANCI 55215 HP:0006824 Cranial nerve paralysis ORPHANET:84 FANCI 55215 HP:0001562 Oligohydramnios ORPHANET:84 FANCI 55215 HP:0002575 Tracheoesophageal fistula ORPHANET:84 FANCI 55215 HP:0003220 Abnormality of chromosome stability ORPHANET:84 FANCI 55215 HP:0001511 Intrauterine growth retardation ORPHANET:84 FANCI 55215 HP:0002119 Ventriculomegaly ORPHANET:84 FANCI 55215 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:84 FANCI 55215 HP:0000175 Cleft palate ORPHANET:84 FANCI 55215 HP:0002007 Frontal bossing ORPHANET:84 FANCI 55215 HP:0005528 Bone marrow hypocellularity ORPHANET:84 FANCI 55215 HP:0100867 Duodenal stenosis ORPHANET:84 FANCI 55215 HP:0000316 Hypertelorism ORPHANET:84 FANCI 55215 HP:0000582 Upslanted palpebral fissure ORPHANET:84 FANCI 55215 HP:0000508 Ptosis ORPHANET:84 FANCI 55215 HP:0001199 Triphalangeal thumb ORPHANET:84 FANCI 55215 HP:0001392 Abnormality of the liver ORPHANET:84 FANCI 55215 HP:0001882 Leukopenia ORPHANET:84 FANCI 55215 HP:0001873 Thrombocytopenia ORPHANET:84 FANCI 55215 HP:0002863 Myelodysplasia ORPHANET:84 FANCI 55215 HP:0001903 Anemia ORPHANET:84 FANCI 55215 HP:0000286 Epicanthus ORPHANET:84 FANCI 55215 HP:0008572 External ear malformation ORPHANET:84 FANCD2 2177 HP:0000505 Visual impairment ORPHANET:84 FANCD2 2177 HP:0002414 Spina bifida ORPHANET:84 FANCD2 2177 HP:0000347 Micrognathia ORPHANET:84 FANCD2 2177 HP:0000518 Cataract ORPHANET:84 FANCD2 2177 HP:0100760 Clubbing of toes ORPHANET:84 FANCD2 2177 HP:0001770 Toe syndactyly ORPHANET:84 FANCD2 2177 HP:0000008 Abnormality of female internal genitalia ORPHANET:84 FANCD2 2177 HP:0000486 Strabismus ORPHANET:84 FANCD2 2177 HP:0001643 Patent ductus arteriosus ORPHANET:84 FANCD2 2177 HP:0005344 Abnormality of the carotid arteries ORPHANET:84 FANCD2 2177 HP:0000483 Astigmatism ORPHANET:84 FANCD2 2177 HP:0100587 Abnormality of the preputium ORPHANET:84 FANCD2 2177 HP:0000252 Microcephaly ORPHANET:84 FANCD2 2177 HP:0004209 Clinodactyly of the 5th finger ORPHANET:84 FANCD2 2177 HP:0002251 Aganglionic megacolon ORPHANET:84 FANCD2 2177 HP:0000025 Functional abnormality of male internal genitalia ORPHANET:84 FANCD2 2177 HP:0001053 Hypopigmented skin patches ORPHANET:84 FANCD2 2177 HP:0001824 Weight loss ORPHANET:84 FANCD2 2177 HP:0006101 Finger syndactyly ORPHANET:84 FANCD2 2177 HP:0000238 Hydrocephalus ORPHANET:84 FANCD2 2177 HP:0003272 Abnormality of the hip bone ORPHANET:84 FANCD2 2177 HP:0000581 Blepharophimosis ORPHANET:84 FANCD2 2177 HP:0002245 Meckel diverticulum ORPHANET:84 FANCD2 2177 HP:0007400 Irregular hyperpigmentation ORPHANET:84 FANCD2 2177 HP:0000028 Cryptorchidism ORPHANET:84 FANCD2 2177 HP:0010293 Aplasia/Hypoplasia of the uvula ORPHANET:84 FANCD2 2177 HP:0001347 Hyperreflexia ORPHANET:84 FANCD2 2177 HP:0001763 Pes planus ORPHANET:84 FANCD2 2177 HP:0002823 Abnormality of the femur ORPHANET:84 FANCD2 2177 HP:0000340 Sloping forehead ORPHANET:84 FANCD2 2177 HP:0004322 Short stature ORPHANET:84 FANCD2 2177 HP:0001636 Tetralogy of Fallot ORPHANET:84 FANCD2 2177 HP:0100026 Arteriovenous malformation ORPHANET:84 FANCD2 2177 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:84 FANCD2 2177 HP:0008678 Renal hypoplasia/aplasia ORPHANET:84 FANCD2 2177 HP:0000324 Facial asymmetry ORPHANET:84 FANCD2 2177 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:84 FANCD2 2177 HP:0100543 Cognitive impairment ORPHANET:84 FANCD2 2177 HP:0001646 Abnormality of the aortic valve ORPHANET:84 FANCD2 2177 HP:0000365 Hearing impairment ORPHANET:84 FANCD2 2177 HP:0000520 Proptosis ORPHANET:84 FANCD2 2177 HP:0000639 Nystagmus ORPHANET:84 FANCD2 2177 HP:0000268 Dolichocephaly ORPHANET:84 FANCD2 2177 HP:0001537 Umbilical hernia ORPHANET:84 FANCD2 2177 HP:0000957 Cafe-au-lait spot ORPHANET:84 FANCD2 2177 HP:0100627 Displacement of the external urethral meatus ORPHANET:84 FANCD2 2177 HP:0100589 Urogenital fistula ORPHANET:84 FANCD2 2177 HP:0002997 Abnormality of the ulna ORPHANET:84 FANCD2 2177 HP:0000010 Recurrent urinary tract infections ORPHANET:84 FANCD2 2177 HP:0000083 Renal insufficiency ORPHANET:84 FANCD2 2177 HP:0004349 Reduced bone mineral density ORPHANET:84 FANCD2 2177 HP:0001679 Abnormality of the aorta ORPHANET:84 FANCD2 2177 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:84 FANCD2 2177 HP:0002650 Scoliosis ORPHANET:84 FANCD2 2177 HP:0001631 Defect in the atrial septum ORPHANET:84 FANCD2 2177 HP:0000453 Choanal atresia ORPHANET:84 FANCD2 2177 HP:0100542 Abnormal localization of kidney ORPHANET:84 FANCD2 2177 HP:0006824 Cranial nerve paralysis ORPHANET:84 FANCD2 2177 HP:0001562 Oligohydramnios ORPHANET:84 FANCD2 2177 HP:0002575 Tracheoesophageal fistula ORPHANET:84 FANCD2 2177 HP:0003220 Abnormality of chromosome stability ORPHANET:84 FANCD2 2177 HP:0001511 Intrauterine growth retardation ORPHANET:84 FANCD2 2177 HP:0002119 Ventriculomegaly ORPHANET:84 FANCD2 2177 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:84 FANCD2 2177 HP:0000175 Cleft palate ORPHANET:84 FANCD2 2177 HP:0002007 Frontal bossing ORPHANET:84 FANCD2 2177 HP:0005528 Bone marrow hypocellularity ORPHANET:84 FANCD2 2177 HP:0100867 Duodenal stenosis ORPHANET:84 FANCD2 2177 HP:0000316 Hypertelorism ORPHANET:84 FANCD2 2177 HP:0000582 Upslanted palpebral fissure ORPHANET:84 FANCD2 2177 HP:0000508 Ptosis ORPHANET:84 FANCD2 2177 HP:0001199 Triphalangeal thumb ORPHANET:84 FANCD2 2177 HP:0001392 Abnormality of the liver ORPHANET:84 FANCD2 2177 HP:0001882 Leukopenia ORPHANET:84 FANCD2 2177 HP:0001873 Thrombocytopenia ORPHANET:84 FANCD2 2177 HP:0002863 Myelodysplasia ORPHANET:84 FANCD2 2177 HP:0001903 Anemia ORPHANET:84 FANCD2 2177 HP:0000286 Epicanthus ORPHANET:84 FANCD2 2177 HP:0008572 External ear malformation ORPHANET:84 FANCC 2176 HP:0000505 Visual impairment ORPHANET:84 FANCC 2176 HP:0002414 Spina bifida ORPHANET:84 FANCC 2176 HP:0000347 Micrognathia ORPHANET:84 FANCC 2176 HP:0000518 Cataract ORPHANET:84 FANCC 2176 HP:0100760 Clubbing of toes ORPHANET:84 FANCC 2176 HP:0001770 Toe syndactyly ORPHANET:84 FANCC 2176 HP:0000008 Abnormality of female internal genitalia ORPHANET:84 FANCC 2176 HP:0000486 Strabismus ORPHANET:84 FANCC 2176 HP:0001643 Patent ductus arteriosus ORPHANET:84 FANCC 2176 HP:0005344 Abnormality of the carotid arteries ORPHANET:84 FANCC 2176 HP:0000483 Astigmatism ORPHANET:84 FANCC 2176 HP:0100587 Abnormality of the preputium ORPHANET:84 FANCC 2176 HP:0000252 Microcephaly ORPHANET:84 FANCC 2176 HP:0004209 Clinodactyly of the 5th finger ORPHANET:84 FANCC 2176 HP:0002251 Aganglionic megacolon ORPHANET:84 FANCC 2176 HP:0000025 Functional abnormality of male internal genitalia ORPHANET:84 FANCC 2176 HP:0001053 Hypopigmented skin patches ORPHANET:84 FANCC 2176 HP:0001824 Weight loss ORPHANET:84 FANCC 2176 HP:0006101 Finger syndactyly ORPHANET:84 FANCC 2176 HP:0000238 Hydrocephalus ORPHANET:84 FANCC 2176 HP:0003272 Abnormality of the hip bone ORPHANET:84 FANCC 2176 HP:0000581 Blepharophimosis ORPHANET:84 FANCC 2176 HP:0002245 Meckel diverticulum ORPHANET:84 FANCC 2176 HP:0007400 Irregular hyperpigmentation ORPHANET:84 FANCC 2176 HP:0000028 Cryptorchidism ORPHANET:84 FANCC 2176 HP:0010293 Aplasia/Hypoplasia of the uvula ORPHANET:84 FANCC 2176 HP:0001347 Hyperreflexia ORPHANET:84 FANCC 2176 HP:0001763 Pes planus ORPHANET:84 FANCC 2176 HP:0002823 Abnormality of the femur ORPHANET:84 FANCC 2176 HP:0000340 Sloping forehead ORPHANET:84 FANCC 2176 HP:0004322 Short stature ORPHANET:84 FANCC 2176 HP:0001636 Tetralogy of Fallot ORPHANET:84 FANCC 2176 HP:0100026 Arteriovenous malformation ORPHANET:84 FANCC 2176 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:84 FANCC 2176 HP:0008678 Renal hypoplasia/aplasia ORPHANET:84 FANCC 2176 HP:0000324 Facial asymmetry ORPHANET:84 FANCC 2176 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:84 FANCC 2176 HP:0100543 Cognitive impairment ORPHANET:84 FANCC 2176 HP:0001646 Abnormality of the aortic valve ORPHANET:84 FANCC 2176 HP:0000365 Hearing impairment ORPHANET:84 FANCC 2176 HP:0000520 Proptosis ORPHANET:84 FANCC 2176 HP:0000639 Nystagmus ORPHANET:84 FANCC 2176 HP:0000268 Dolichocephaly ORPHANET:84 FANCC 2176 HP:0001537 Umbilical hernia ORPHANET:84 FANCC 2176 HP:0000957 Cafe-au-lait spot ORPHANET:84 FANCC 2176 HP:0100627 Displacement of the external urethral meatus ORPHANET:84 FANCC 2176 HP:0100589 Urogenital fistula ORPHANET:84 FANCC 2176 HP:0002997 Abnormality of the ulna ORPHANET:84 FANCC 2176 HP:0000010 Recurrent urinary tract infections ORPHANET:84 FANCC 2176 HP:0000083 Renal insufficiency ORPHANET:84 FANCC 2176 HP:0004349 Reduced bone mineral density ORPHANET:84 FANCC 2176 HP:0001679 Abnormality of the aorta ORPHANET:84 FANCC 2176 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:84 FANCC 2176 HP:0002650 Scoliosis ORPHANET:84 FANCC 2176 HP:0001631 Defect in the atrial septum ORPHANET:84 FANCC 2176 HP:0000453 Choanal atresia ORPHANET:84 FANCC 2176 HP:0100542 Abnormal localization of kidney ORPHANET:84 FANCC 2176 HP:0006824 Cranial nerve paralysis ORPHANET:84 FANCC 2176 HP:0001562 Oligohydramnios ORPHANET:84 FANCC 2176 HP:0002575 Tracheoesophageal fistula ORPHANET:84 FANCC 2176 HP:0003220 Abnormality of chromosome stability ORPHANET:84 FANCC 2176 HP:0001511 Intrauterine growth retardation ORPHANET:84 FANCC 2176 HP:0002119 Ventriculomegaly ORPHANET:84 FANCC 2176 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:84 FANCC 2176 HP:0000175 Cleft palate ORPHANET:84 FANCC 2176 HP:0002007 Frontal bossing ORPHANET:84 FANCC 2176 HP:0005528 Bone marrow hypocellularity ORPHANET:84 FANCC 2176 HP:0100867 Duodenal stenosis ORPHANET:84 FANCC 2176 HP:0000316 Hypertelorism ORPHANET:84 FANCC 2176 HP:0000582 Upslanted palpebral fissure ORPHANET:84 FANCC 2176 HP:0000508 Ptosis ORPHANET:84 FANCC 2176 HP:0001199 Triphalangeal thumb ORPHANET:84 FANCC 2176 HP:0001392 Abnormality of the liver ORPHANET:84 FANCC 2176 HP:0001882 Leukopenia ORPHANET:84 FANCC 2176 HP:0001873 Thrombocytopenia ORPHANET:84 FANCC 2176 HP:0002863 Myelodysplasia ORPHANET:84 FANCC 2176 HP:0001903 Anemia ORPHANET:84 FANCC 2176 HP:0000286 Epicanthus ORPHANET:84 FANCC 2176 HP:0008572 External ear malformation ORPHANET:84 PALB2 79728 HP:0000505 Visual impairment ORPHANET:84 PALB2 79728 HP:0002414 Spina bifida ORPHANET:84 PALB2 79728 HP:0000347 Micrognathia ORPHANET:84 PALB2 79728 HP:0000518 Cataract ORPHANET:84 PALB2 79728 HP:0100760 Clubbing of toes ORPHANET:84 PALB2 79728 HP:0001770 Toe syndactyly ORPHANET:84 PALB2 79728 HP:0000008 Abnormality of female internal genitalia ORPHANET:84 PALB2 79728 HP:0000486 Strabismus ORPHANET:84 PALB2 79728 HP:0001643 Patent ductus arteriosus ORPHANET:84 PALB2 79728 HP:0005344 Abnormality of the carotid arteries ORPHANET:84 PALB2 79728 HP:0000483 Astigmatism ORPHANET:84 PALB2 79728 HP:0100587 Abnormality of the preputium ORPHANET:84 PALB2 79728 HP:0000252 Microcephaly ORPHANET:84 PALB2 79728 HP:0004209 Clinodactyly of the 5th finger ORPHANET:84 PALB2 79728 HP:0002251 Aganglionic megacolon ORPHANET:84 PALB2 79728 HP:0000025 Functional abnormality of male internal genitalia ORPHANET:84 PALB2 79728 HP:0001053 Hypopigmented skin patches ORPHANET:84 PALB2 79728 HP:0001824 Weight loss ORPHANET:84 PALB2 79728 HP:0006101 Finger syndactyly ORPHANET:84 PALB2 79728 HP:0000238 Hydrocephalus ORPHANET:84 PALB2 79728 HP:0003272 Abnormality of the hip bone ORPHANET:84 PALB2 79728 HP:0000581 Blepharophimosis ORPHANET:84 PALB2 79728 HP:0002245 Meckel diverticulum ORPHANET:84 PALB2 79728 HP:0007400 Irregular hyperpigmentation ORPHANET:84 PALB2 79728 HP:0000028 Cryptorchidism ORPHANET:84 PALB2 79728 HP:0010293 Aplasia/Hypoplasia of the uvula ORPHANET:84 PALB2 79728 HP:0001347 Hyperreflexia ORPHANET:84 PALB2 79728 HP:0001763 Pes planus ORPHANET:84 PALB2 79728 HP:0002823 Abnormality of the femur ORPHANET:84 PALB2 79728 HP:0000340 Sloping forehead ORPHANET:84 PALB2 79728 HP:0004322 Short stature ORPHANET:84 PALB2 79728 HP:0001636 Tetralogy of Fallot ORPHANET:84 PALB2 79728 HP:0100026 Arteriovenous malformation ORPHANET:84 PALB2 79728 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:84 PALB2 79728 HP:0008678 Renal hypoplasia/aplasia ORPHANET:84 PALB2 79728 HP:0000324 Facial asymmetry ORPHANET:84 PALB2 79728 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:84 PALB2 79728 HP:0100543 Cognitive impairment ORPHANET:84 PALB2 79728 HP:0001646 Abnormality of the aortic valve ORPHANET:84 PALB2 79728 HP:0000365 Hearing impairment ORPHANET:84 PALB2 79728 HP:0000520 Proptosis ORPHANET:84 PALB2 79728 HP:0000639 Nystagmus ORPHANET:84 PALB2 79728 HP:0000268 Dolichocephaly ORPHANET:84 PALB2 79728 HP:0001537 Umbilical hernia ORPHANET:84 PALB2 79728 HP:0000957 Cafe-au-lait spot ORPHANET:84 PALB2 79728 HP:0100627 Displacement of the external urethral meatus ORPHANET:84 PALB2 79728 HP:0100589 Urogenital fistula ORPHANET:84 PALB2 79728 HP:0002997 Abnormality of the ulna ORPHANET:84 PALB2 79728 HP:0000010 Recurrent urinary tract infections ORPHANET:84 PALB2 79728 HP:0000083 Renal insufficiency ORPHANET:84 PALB2 79728 HP:0004349 Reduced bone mineral density ORPHANET:84 PALB2 79728 HP:0001679 Abnormality of the aorta ORPHANET:84 PALB2 79728 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:84 PALB2 79728 HP:0002650 Scoliosis ORPHANET:84 PALB2 79728 HP:0001631 Defect in the atrial septum ORPHANET:84 PALB2 79728 HP:0000453 Choanal atresia ORPHANET:84 PALB2 79728 HP:0100542 Abnormal localization of kidney ORPHANET:84 PALB2 79728 HP:0006824 Cranial nerve paralysis ORPHANET:84 PALB2 79728 HP:0001562 Oligohydramnios ORPHANET:84 PALB2 79728 HP:0002575 Tracheoesophageal fistula ORPHANET:84 PALB2 79728 HP:0003220 Abnormality of chromosome stability ORPHANET:84 PALB2 79728 HP:0001511 Intrauterine growth retardation ORPHANET:84 PALB2 79728 HP:0002119 Ventriculomegaly ORPHANET:84 PALB2 79728 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:84 PALB2 79728 HP:0000175 Cleft palate ORPHANET:84 PALB2 79728 HP:0002007 Frontal bossing ORPHANET:84 PALB2 79728 HP:0005528 Bone marrow hypocellularity ORPHANET:84 PALB2 79728 HP:0100867 Duodenal stenosis ORPHANET:84 PALB2 79728 HP:0000316 Hypertelorism ORPHANET:84 PALB2 79728 HP:0000582 Upslanted palpebral fissure ORPHANET:84 PALB2 79728 HP:0000508 Ptosis ORPHANET:84 PALB2 79728 HP:0001199 Triphalangeal thumb ORPHANET:84 PALB2 79728 HP:0001392 Abnormality of the liver ORPHANET:84 PALB2 79728 HP:0001882 Leukopenia ORPHANET:84 PALB2 79728 HP:0001873 Thrombocytopenia ORPHANET:84 PALB2 79728 HP:0002863 Myelodysplasia ORPHANET:84 PALB2 79728 HP:0001903 Anemia ORPHANET:84 PALB2 79728 HP:0000286 Epicanthus ORPHANET:84 PALB2 79728 HP:0008572 External ear malformation ORPHANET:84 FANCE 2178 HP:0000505 Visual impairment ORPHANET:84 FANCE 2178 HP:0002414 Spina bifida ORPHANET:84 FANCE 2178 HP:0000347 Micrognathia ORPHANET:84 FANCE 2178 HP:0000518 Cataract ORPHANET:84 FANCE 2178 HP:0100760 Clubbing of toes ORPHANET:84 FANCE 2178 HP:0001770 Toe syndactyly ORPHANET:84 FANCE 2178 HP:0000008 Abnormality of female internal genitalia ORPHANET:84 FANCE 2178 HP:0000486 Strabismus ORPHANET:84 FANCE 2178 HP:0001643 Patent ductus arteriosus ORPHANET:84 FANCE 2178 HP:0005344 Abnormality of the carotid arteries ORPHANET:84 FANCE 2178 HP:0000483 Astigmatism ORPHANET:84 FANCE 2178 HP:0100587 Abnormality of the preputium ORPHANET:84 FANCE 2178 HP:0000252 Microcephaly ORPHANET:84 FANCE 2178 HP:0004209 Clinodactyly of the 5th finger ORPHANET:84 FANCE 2178 HP:0002251 Aganglionic megacolon ORPHANET:84 FANCE 2178 HP:0000025 Functional abnormality of male internal genitalia ORPHANET:84 FANCE 2178 HP:0001053 Hypopigmented skin patches ORPHANET:84 FANCE 2178 HP:0001824 Weight loss ORPHANET:84 FANCE 2178 HP:0006101 Finger syndactyly ORPHANET:84 FANCE 2178 HP:0000238 Hydrocephalus ORPHANET:84 FANCE 2178 HP:0003272 Abnormality of the hip bone ORPHANET:84 FANCE 2178 HP:0000581 Blepharophimosis ORPHANET:84 FANCE 2178 HP:0002245 Meckel diverticulum ORPHANET:84 FANCE 2178 HP:0007400 Irregular hyperpigmentation ORPHANET:84 FANCE 2178 HP:0000028 Cryptorchidism ORPHANET:84 FANCE 2178 HP:0010293 Aplasia/Hypoplasia of the uvula ORPHANET:84 FANCE 2178 HP:0001347 Hyperreflexia ORPHANET:84 FANCE 2178 HP:0001763 Pes planus ORPHANET:84 FANCE 2178 HP:0002823 Abnormality of the femur ORPHANET:84 FANCE 2178 HP:0000340 Sloping forehead ORPHANET:84 FANCE 2178 HP:0004322 Short stature ORPHANET:84 FANCE 2178 HP:0001636 Tetralogy of Fallot ORPHANET:84 FANCE 2178 HP:0100026 Arteriovenous malformation ORPHANET:84 FANCE 2178 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:84 FANCE 2178 HP:0008678 Renal hypoplasia/aplasia ORPHANET:84 FANCE 2178 HP:0000324 Facial asymmetry ORPHANET:84 FANCE 2178 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:84 FANCE 2178 HP:0100543 Cognitive impairment ORPHANET:84 FANCE 2178 HP:0001646 Abnormality of the aortic valve ORPHANET:84 FANCE 2178 HP:0000365 Hearing impairment ORPHANET:84 FANCE 2178 HP:0000520 Proptosis ORPHANET:84 FANCE 2178 HP:0000639 Nystagmus ORPHANET:84 FANCE 2178 HP:0000268 Dolichocephaly ORPHANET:84 FANCE 2178 HP:0001537 Umbilical hernia ORPHANET:84 FANCE 2178 HP:0000957 Cafe-au-lait spot ORPHANET:84 FANCE 2178 HP:0100627 Displacement of the external urethral meatus ORPHANET:84 FANCE 2178 HP:0100589 Urogenital fistula ORPHANET:84 FANCE 2178 HP:0002997 Abnormality of the ulna ORPHANET:84 FANCE 2178 HP:0000010 Recurrent urinary tract infections ORPHANET:84 FANCE 2178 HP:0000083 Renal insufficiency ORPHANET:84 FANCE 2178 HP:0004349 Reduced bone mineral density ORPHANET:84 FANCE 2178 HP:0001679 Abnormality of the aorta ORPHANET:84 FANCE 2178 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:84 FANCE 2178 HP:0002650 Scoliosis ORPHANET:84 FANCE 2178 HP:0001631 Defect in the atrial septum ORPHANET:84 FANCE 2178 HP:0000453 Choanal atresia ORPHANET:84 FANCE 2178 HP:0100542 Abnormal localization of kidney ORPHANET:84 FANCE 2178 HP:0006824 Cranial nerve paralysis ORPHANET:84 FANCE 2178 HP:0001562 Oligohydramnios ORPHANET:84 FANCE 2178 HP:0002575 Tracheoesophageal fistula ORPHANET:84 FANCE 2178 HP:0003220 Abnormality of chromosome stability ORPHANET:84 FANCE 2178 HP:0001511 Intrauterine growth retardation ORPHANET:84 FANCE 2178 HP:0002119 Ventriculomegaly ORPHANET:84 FANCE 2178 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:84 FANCE 2178 HP:0000175 Cleft palate ORPHANET:84 FANCE 2178 HP:0002007 Frontal bossing ORPHANET:84 FANCE 2178 HP:0005528 Bone marrow hypocellularity ORPHANET:84 FANCE 2178 HP:0100867 Duodenal stenosis ORPHANET:84 FANCE 2178 HP:0000316 Hypertelorism ORPHANET:84 FANCE 2178 HP:0000582 Upslanted palpebral fissure ORPHANET:84 FANCE 2178 HP:0000508 Ptosis ORPHANET:84 FANCE 2178 HP:0001199 Triphalangeal thumb ORPHANET:84 FANCE 2178 HP:0001392 Abnormality of the liver ORPHANET:84 FANCE 2178 HP:0001882 Leukopenia ORPHANET:84 FANCE 2178 HP:0001873 Thrombocytopenia ORPHANET:84 FANCE 2178 HP:0002863 Myelodysplasia ORPHANET:84 FANCE 2178 HP:0001903 Anemia ORPHANET:84 FANCE 2178 HP:0000286 Epicanthus ORPHANET:84 FANCE 2178 HP:0008572 External ear malformation ORPHANET:84 FANCM 57697 HP:0000505 Visual impairment ORPHANET:84 FANCM 57697 HP:0002414 Spina bifida ORPHANET:84 FANCM 57697 HP:0000347 Micrognathia ORPHANET:84 FANCM 57697 HP:0000518 Cataract ORPHANET:84 FANCM 57697 HP:0100760 Clubbing of toes ORPHANET:84 FANCM 57697 HP:0001770 Toe syndactyly ORPHANET:84 FANCM 57697 HP:0000008 Abnormality of female internal genitalia ORPHANET:84 FANCM 57697 HP:0000486 Strabismus ORPHANET:84 FANCM 57697 HP:0001643 Patent ductus arteriosus ORPHANET:84 FANCM 57697 HP:0005344 Abnormality of the carotid arteries ORPHANET:84 FANCM 57697 HP:0000483 Astigmatism ORPHANET:84 FANCM 57697 HP:0100587 Abnormality of the preputium ORPHANET:84 FANCM 57697 HP:0000252 Microcephaly ORPHANET:84 FANCM 57697 HP:0004209 Clinodactyly of the 5th finger ORPHANET:84 FANCM 57697 HP:0002251 Aganglionic megacolon ORPHANET:84 FANCM 57697 HP:0000025 Functional abnormality of male internal genitalia ORPHANET:84 FANCM 57697 HP:0001053 Hypopigmented skin patches ORPHANET:84 FANCM 57697 HP:0001824 Weight loss ORPHANET:84 FANCM 57697 HP:0006101 Finger syndactyly ORPHANET:84 FANCM 57697 HP:0000238 Hydrocephalus ORPHANET:84 FANCM 57697 HP:0003272 Abnormality of the hip bone ORPHANET:84 FANCM 57697 HP:0000581 Blepharophimosis ORPHANET:84 FANCM 57697 HP:0002245 Meckel diverticulum ORPHANET:84 FANCM 57697 HP:0007400 Irregular hyperpigmentation ORPHANET:84 FANCM 57697 HP:0000028 Cryptorchidism ORPHANET:84 FANCM 57697 HP:0010293 Aplasia/Hypoplasia of the uvula ORPHANET:84 FANCM 57697 HP:0001347 Hyperreflexia ORPHANET:84 FANCM 57697 HP:0001763 Pes planus ORPHANET:84 FANCM 57697 HP:0002823 Abnormality of the femur ORPHANET:84 FANCM 57697 HP:0000340 Sloping forehead ORPHANET:84 FANCM 57697 HP:0004322 Short stature ORPHANET:84 FANCM 57697 HP:0001636 Tetralogy of Fallot ORPHANET:84 FANCM 57697 HP:0100026 Arteriovenous malformation ORPHANET:84 FANCM 57697 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:84 FANCM 57697 HP:0008678 Renal hypoplasia/aplasia ORPHANET:84 FANCM 57697 HP:0000324 Facial asymmetry ORPHANET:84 FANCM 57697 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:84 FANCM 57697 HP:0100543 Cognitive impairment ORPHANET:84 FANCM 57697 HP:0001646 Abnormality of the aortic valve ORPHANET:84 FANCM 57697 HP:0000365 Hearing impairment ORPHANET:84 FANCM 57697 HP:0000520 Proptosis ORPHANET:84 FANCM 57697 HP:0000639 Nystagmus ORPHANET:84 FANCM 57697 HP:0000268 Dolichocephaly ORPHANET:84 FANCM 57697 HP:0001537 Umbilical hernia ORPHANET:84 FANCM 57697 HP:0000957 Cafe-au-lait spot ORPHANET:84 FANCM 57697 HP:0100627 Displacement of the external urethral meatus ORPHANET:84 FANCM 57697 HP:0100589 Urogenital fistula ORPHANET:84 FANCM 57697 HP:0002997 Abnormality of the ulna ORPHANET:84 FANCM 57697 HP:0000010 Recurrent urinary tract infections ORPHANET:84 FANCM 57697 HP:0000083 Renal insufficiency ORPHANET:84 FANCM 57697 HP:0004349 Reduced bone mineral density ORPHANET:84 FANCM 57697 HP:0001679 Abnormality of the aorta ORPHANET:84 FANCM 57697 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:84 FANCM 57697 HP:0002650 Scoliosis ORPHANET:84 FANCM 57697 HP:0001631 Defect in the atrial septum ORPHANET:84 FANCM 57697 HP:0000453 Choanal atresia ORPHANET:84 FANCM 57697 HP:0100542 Abnormal localization of kidney ORPHANET:84 FANCM 57697 HP:0006824 Cranial nerve paralysis ORPHANET:84 FANCM 57697 HP:0001562 Oligohydramnios ORPHANET:84 FANCM 57697 HP:0002575 Tracheoesophageal fistula ORPHANET:84 FANCM 57697 HP:0003220 Abnormality of chromosome stability ORPHANET:84 FANCM 57697 HP:0001511 Intrauterine growth retardation ORPHANET:84 FANCM 57697 HP:0002119 Ventriculomegaly ORPHANET:84 FANCM 57697 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:84 FANCM 57697 HP:0000175 Cleft palate ORPHANET:84 FANCM 57697 HP:0002007 Frontal bossing ORPHANET:84 FANCM 57697 HP:0005528 Bone marrow hypocellularity ORPHANET:84 FANCM 57697 HP:0100867 Duodenal stenosis ORPHANET:84 FANCM 57697 HP:0000316 Hypertelorism ORPHANET:84 FANCM 57697 HP:0000582 Upslanted palpebral fissure ORPHANET:84 FANCM 57697 HP:0000508 Ptosis ORPHANET:84 FANCM 57697 HP:0001199 Triphalangeal thumb ORPHANET:84 FANCM 57697 HP:0001392 Abnormality of the liver ORPHANET:84 FANCM 57697 HP:0001882 Leukopenia ORPHANET:84 FANCM 57697 HP:0001873 Thrombocytopenia ORPHANET:84 FANCM 57697 HP:0002863 Myelodysplasia ORPHANET:84 FANCM 57697 HP:0001903 Anemia ORPHANET:84 FANCM 57697 HP:0000286 Epicanthus ORPHANET:84 FANCM 57697 HP:0008572 External ear malformation ORPHANET:84 RAD51C 5889 HP:0000505 Visual impairment ORPHANET:84 RAD51C 5889 HP:0002414 Spina bifida ORPHANET:84 RAD51C 5889 HP:0000347 Micrognathia ORPHANET:84 RAD51C 5889 HP:0000518 Cataract ORPHANET:84 RAD51C 5889 HP:0100760 Clubbing of toes ORPHANET:84 RAD51C 5889 HP:0001770 Toe syndactyly ORPHANET:84 RAD51C 5889 HP:0000008 Abnormality of female internal genitalia ORPHANET:84 RAD51C 5889 HP:0000486 Strabismus ORPHANET:84 RAD51C 5889 HP:0001643 Patent ductus arteriosus ORPHANET:84 RAD51C 5889 HP:0005344 Abnormality of the carotid arteries ORPHANET:84 RAD51C 5889 HP:0000483 Astigmatism ORPHANET:84 RAD51C 5889 HP:0100587 Abnormality of the preputium ORPHANET:84 RAD51C 5889 HP:0000252 Microcephaly ORPHANET:84 RAD51C 5889 HP:0004209 Clinodactyly of the 5th finger ORPHANET:84 RAD51C 5889 HP:0002251 Aganglionic megacolon ORPHANET:84 RAD51C 5889 HP:0000025 Functional abnormality of male internal genitalia ORPHANET:84 RAD51C 5889 HP:0001053 Hypopigmented skin patches ORPHANET:84 RAD51C 5889 HP:0001824 Weight loss ORPHANET:84 RAD51C 5889 HP:0006101 Finger syndactyly ORPHANET:84 RAD51C 5889 HP:0000238 Hydrocephalus ORPHANET:84 RAD51C 5889 HP:0003272 Abnormality of the hip bone ORPHANET:84 RAD51C 5889 HP:0000581 Blepharophimosis ORPHANET:84 RAD51C 5889 HP:0002245 Meckel diverticulum ORPHANET:84 RAD51C 5889 HP:0007400 Irregular hyperpigmentation ORPHANET:84 RAD51C 5889 HP:0000028 Cryptorchidism ORPHANET:84 RAD51C 5889 HP:0010293 Aplasia/Hypoplasia of the uvula ORPHANET:84 RAD51C 5889 HP:0001347 Hyperreflexia ORPHANET:84 RAD51C 5889 HP:0001763 Pes planus ORPHANET:84 RAD51C 5889 HP:0002823 Abnormality of the femur ORPHANET:84 RAD51C 5889 HP:0000340 Sloping forehead ORPHANET:84 RAD51C 5889 HP:0004322 Short stature ORPHANET:84 RAD51C 5889 HP:0001636 Tetralogy of Fallot ORPHANET:84 RAD51C 5889 HP:0100026 Arteriovenous malformation ORPHANET:84 RAD51C 5889 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:84 RAD51C 5889 HP:0008678 Renal hypoplasia/aplasia ORPHANET:84 RAD51C 5889 HP:0000324 Facial asymmetry ORPHANET:84 RAD51C 5889 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:84 RAD51C 5889 HP:0100543 Cognitive impairment ORPHANET:84 RAD51C 5889 HP:0001646 Abnormality of the aortic valve ORPHANET:84 RAD51C 5889 HP:0000365 Hearing impairment ORPHANET:84 RAD51C 5889 HP:0000520 Proptosis ORPHANET:84 RAD51C 5889 HP:0000639 Nystagmus ORPHANET:84 RAD51C 5889 HP:0000268 Dolichocephaly ORPHANET:84 RAD51C 5889 HP:0001537 Umbilical hernia ORPHANET:84 RAD51C 5889 HP:0000957 Cafe-au-lait spot ORPHANET:84 RAD51C 5889 HP:0100627 Displacement of the external urethral meatus ORPHANET:84 RAD51C 5889 HP:0100589 Urogenital fistula ORPHANET:84 RAD51C 5889 HP:0002997 Abnormality of the ulna ORPHANET:84 RAD51C 5889 HP:0000010 Recurrent urinary tract infections ORPHANET:84 RAD51C 5889 HP:0000083 Renal insufficiency ORPHANET:84 RAD51C 5889 HP:0004349 Reduced bone mineral density ORPHANET:84 RAD51C 5889 HP:0001679 Abnormality of the aorta ORPHANET:84 RAD51C 5889 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:84 RAD51C 5889 HP:0002650 Scoliosis ORPHANET:84 RAD51C 5889 HP:0001631 Defect in the atrial septum ORPHANET:84 RAD51C 5889 HP:0000453 Choanal atresia ORPHANET:84 RAD51C 5889 HP:0100542 Abnormal localization of kidney ORPHANET:84 RAD51C 5889 HP:0006824 Cranial nerve paralysis ORPHANET:84 RAD51C 5889 HP:0001562 Oligohydramnios ORPHANET:84 RAD51C 5889 HP:0002575 Tracheoesophageal fistula ORPHANET:84 RAD51C 5889 HP:0003220 Abnormality of chromosome stability ORPHANET:84 RAD51C 5889 HP:0001511 Intrauterine growth retardation ORPHANET:84 RAD51C 5889 HP:0002119 Ventriculomegaly ORPHANET:84 RAD51C 5889 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:84 RAD51C 5889 HP:0000175 Cleft palate ORPHANET:84 RAD51C 5889 HP:0002007 Frontal bossing ORPHANET:84 RAD51C 5889 HP:0005528 Bone marrow hypocellularity ORPHANET:84 RAD51C 5889 HP:0100867 Duodenal stenosis ORPHANET:84 RAD51C 5889 HP:0000316 Hypertelorism ORPHANET:84 RAD51C 5889 HP:0000582 Upslanted palpebral fissure ORPHANET:84 RAD51C 5889 HP:0000508 Ptosis ORPHANET:84 RAD51C 5889 HP:0001199 Triphalangeal thumb ORPHANET:84 RAD51C 5889 HP:0001392 Abnormality of the liver ORPHANET:84 RAD51C 5889 HP:0001882 Leukopenia ORPHANET:84 RAD51C 5889 HP:0001873 Thrombocytopenia ORPHANET:84 RAD51C 5889 HP:0002863 Myelodysplasia ORPHANET:84 RAD51C 5889 HP:0001903 Anemia ORPHANET:84 RAD51C 5889 HP:0000286 Epicanthus ORPHANET:84 RAD51C 5889 HP:0008572 External ear malformation OMIM:614376 WDR19 57728 HP:0000093 Proteinuria OMIM:614376 WDR19 57728 HP:0001156 Brachydactyly syndrome OMIM:614376 WDR19 57728 HP:0000219 Thin upper lip vermilion OMIM:614376 WDR19 57728 HP:0001773 Short foot OMIM:614376 WDR19 57728 HP:0000023 Inguinal hernia OMIM:614376 WDR19 57728 HP:0000774 Narrow chest OMIM:614376 WDR19 57728 HP:0006644 Thoracic dysplasia OMIM:614376 WDR19 57728 HP:0000089 Renal hypoplasia OMIM:614376 WDR19 57728 HP:0008905 Rhizomelia OMIM:614376 WDR19 57728 HP:0003259 Elevated serum creatinine OMIM:614376 WDR19 57728 HP:0100866 Short iliac bones OMIM:614376 WDR19 57728 HP:0000007 Autosomal recessive inheritance OMIM:614376 WDR19 57728 HP:0000518 Cataract OMIM:614376 WDR19 57728 HP:0000293 Full cheeks OMIM:614376 WDR19 57728 HP:0000545 Myopia OMIM:614376 WDR19 57728 HP:0003774 Stage 5 chronic kidney disease OMIM:614376 WDR19 57728 HP:0003016 Metaphyseal widening OMIM:614376 WDR19 57728 HP:0004743 Chronic tubulointerstitial nephritis OMIM:114900 SDHD 6392 HP:0006723 Intestinal carcinoid OMIM:114900 SDHD 6392 HP:0000006 Autosomal dominant inheritance OMIM:612581 KIRREL3 84623 HP:0000006 Autosomal dominant inheritance OMIM:612581 KIRREL3 84623 HP:0001249 Intellectual disability OMIM:275200 TSHR 7253 HP:0000851 Congenital hypothyroidism OMIM:275200 TSHR 7253 HP:0002925 Thyroid-stimulating hormone excess OMIM:275200 TSHR 7253 HP:0005990 Thyroid hypoplasia OMIM:275200 TSHR 7253 HP:0003593 Infantile onset OMIM:275200 TSHR 7253 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:275200 TSHR 7253 HP:0001252 Muscular hypotonia OMIM:275200 TSHR 7253 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature OMIM:275200 TSHR 7253 HP:0000007 Autosomal recessive inheritance OMIM:275200 TSHR 7253 HP:0000821 Hypothyroidism OMIM:275200 TSHR 7253 HP:0001608 Abnormality of the voice OMIM:275200 TSHR 7253 HP:0002019 Constipation OMIM:275200 TSHR 7253 HP:0001392 Abnormality of the liver OMIM:275200 TSHR 7253 HP:0002360 Sleep disturbance OMIM:275200 TSHR 7253 HP:0000157 Abnormality of the tongue OMIM:275200 TSHR 7253 HP:0001537 Umbilical hernia OMIM:609549 MFRP 83552 HP:0000568 Microphthalmos OMIM:609549 MFRP 83552 HP:0000007 Autosomal recessive inheritance OMIM:610140 LMNA 4000 HP:0001159 Syndactyly OMIM:610140 LMNA 4000 HP:0010239 Aplasia of the middle phalanx of the hand OMIM:610140 LMNA 4000 HP:0001156 Brachydactyly syndrome OMIM:610140 LMNA 4000 HP:0001644 Dilated cardiomyopathy OMIM:610140 LMNA 4000 HP:0003198 Myopathy OMIM:610140 LMNA 4000 HP:0000006 Autosomal dominant inheritance OMIM:610140 LMNA 4000 HP:0030084 Clinodactyly OMIM:616069 EGFR 1956 HP:0001508 Failure to thrive OMIM:616069 EGFR 1956 HP:0000822 Hypertension OMIM:616069 EGFR 1956 HP:0200034 Papule OMIM:616069 EGFR 1956 HP:0200039 Pustule OMIM:616069 EGFR 1956 HP:0100501 Recurrent bronchiolitis OMIM:616069 EGFR 1956 HP:0006532 Recurrent pneumonia OMIM:616069 EGFR 1956 HP:0002013 Vomiting OMIM:231550 AAAS 8086 HP:0002571 Achalasia OMIM:231550 AAAS 8086 HP:0003676 Progressive disorder OMIM:231550 AAAS 8086 HP:0001251 Ataxia OMIM:231550 AAAS 8086 HP:0001249 Intellectual disability OMIM:231550 AAAS 8086 HP:0000648 Optic atrophy OMIM:231550 AAAS 8086 HP:0000252 Microcephaly OMIM:231550 AAAS 8086 HP:0003487 Babinski sign OMIM:231550 AAAS 8086 HP:0008259 Adrenocorticotropin (ACTH) receptor (ACTHR) defect OMIM:231550 AAAS 8086 HP:0000953 Hyperpigmentation of the skin OMIM:231550 AAAS 8086 HP:0000649 Abnormality of vision evoked potentials OMIM:231550 AAAS 8086 HP:0008220 Hypocortisolemia OMIM:231550 AAAS 8086 HP:0001324 Muscle weakness OMIM:231550 AAAS 8086 HP:0009916 Anisocoria OMIM:231550 AAAS 8086 HP:0000007 Autosomal recessive inheritance OMIM:231550 AAAS 8086 HP:0000972 Palmoplantar hyperkeratosis OMIM:231550 AAAS 8086 HP:0001260 Dysarthria OMIM:231550 AAAS 8086 HP:0007002 Motor axonal neuropathy OMIM:231550 AAAS 8086 HP:0004319 Hypoaldosteronism OMIM:231550 AAAS 8086 HP:0011463 Childhood onset OMIM:231550 AAAS 8086 HP:0000522 Alacrima OMIM:231550 AAAS 8086 HP:0001278 Orthostatic hypotension OMIM:231550 AAAS 8086 HP:0001263 Global developmental delay OMIM:231550 AAAS 8086 HP:0001347 Hyperreflexia OMIM:231550 AAAS 8086 HP:0004322 Short stature OMIM:231550 AAAS 8086 HP:0002459 Dysautonomia ORPHANET:721 GFI1B 8328 HP:0001873 Thrombocytopenia ORPHANET:721 GFI1B 8328 HP:0001928 Abnormality of coagulation ORPHANET:721 GFI1B 8328 HP:0001744 Splenomegaly ORPHANET:721 GFI1B 8328 HP:0000421 Epistaxis ORPHANET:721 GFI1B 8328 HP:0000140 Abnormality of the menstrual cycle ORPHANET:721 GFI1B 8328 HP:0002863 Myelodysplasia ORPHANET:721 GFI1B 8328 HP:0000978 Bruising susceptibility ORPHANET:721 NBEAL2 23218 HP:0001873 Thrombocytopenia ORPHANET:721 NBEAL2 23218 HP:0001928 Abnormality of coagulation ORPHANET:721 NBEAL2 23218 HP:0001744 Splenomegaly ORPHANET:721 NBEAL2 23218 HP:0000421 Epistaxis ORPHANET:721 NBEAL2 23218 HP:0000140 Abnormality of the menstrual cycle ORPHANET:721 NBEAL2 23218 HP:0002863 Myelodysplasia ORPHANET:721 NBEAL2 23218 HP:0000978 Bruising susceptibility OMIM:269500 SOST 50964 HP:0011800 Midface retrusion OMIM:269500 SOST 50964 HP:0000565 Esotropia OMIM:269500 SOST 50964 HP:0002164 Nail dysplasia OMIM:269500 SOST 50964 HP:0007285 Facial palsy secondary to cranial hyperostosis OMIM:269500 SOST 50964 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:269500 SOST 50964 HP:0002315 Headache OMIM:269500 SOST 50964 HP:0000007 Autosomal recessive inheritance OMIM:269500 SOST 50964 HP:0000639 Nystagmus OMIM:269500 SOST 50964 HP:0000689 Dental malocclusion OMIM:269500 SOST 50964 HP:0002516 Increased intracranial pressure OMIM:269500 SOST 50964 HP:0005280 Depressed nasal bridge OMIM:269500 SOST 50964 HP:0001474 Sclerotic scapulae OMIM:269500 SOST 50964 HP:0100543 Cognitive impairment OMIM:269500 SOST 50964 HP:0000572 Visual loss OMIM:269500 SOST 50964 HP:0000916 Broad clavicles OMIM:269500 SOST 50964 HP:0000885 Broad ribs OMIM:269500 SOST 50964 HP:0001699 Sudden death OMIM:269500 SOST 50964 HP:0000365 Hearing impairment OMIM:269500 SOST 50964 HP:0000272 Malar flattening OMIM:269500 SOST 50964 HP:0000648 Optic atrophy OMIM:269500 SOST 50964 HP:0000520 Proptosis OMIM:269500 SOST 50964 HP:0004576 Sclerotic vertebral endplates OMIM:269500 SOST 50964 HP:0001133 Constricted visual fields OMIM:269500 SOST 50964 HP:0006415 Cortically dense long tubular bones OMIM:269500 SOST 50964 HP:0004097 Deviation of finger OMIM:269500 SOST 50964 HP:0000316 Hypertelorism OMIM:269500 SOST 50964 HP:0000431 Wide nasal bridge OMIM:269500 SOST 50964 HP:0001548 Overgrowth OMIM:269500 SOST 50964 HP:0002007 Frontal bossing OMIM:269500 SOST 50964 HP:0000303 Mandibular prognathia OMIM:269500 SOST 50964 HP:0001233 2-3 finger syndactyly OMIM:607944 ACP5 54 HP:0003301 Irregular vertebral endplates OMIM:607944 ACP5 54 HP:0004322 Short stature OMIM:607944 ACP5 54 HP:0002205 Recurrent respiratory infections OMIM:607944 ACP5 54 HP:0000007 Autosomal recessive inheritance OMIM:607944 ACP5 54 HP:0002090 Pneumonia OMIM:607944 ACP5 54 HP:0000979 Purpura OMIM:607944 ACP5 54 HP:0005374 Cellular immunodeficiency OMIM:607944 ACP5 54 HP:0001370 Rheumatoid arthritis OMIM:607944 ACP5 54 HP:0001973 Autoimmune thrombocytopenia OMIM:607944 ACP5 54 HP:0001045 Vitiligo OMIM:607944 ACP5 54 HP:0000369 Low-set ears OMIM:607944 ACP5 54 HP:0000403 Recurrent otitis media OMIM:607944 ACP5 54 HP:0005403 T lymphocytopenia OMIM:607944 ACP5 54 HP:0000926 Platyspondyly OMIM:607944 ACP5 54 HP:0011108 Recurrent sinusitis OMIM:607944 ACP5 54 HP:0000460 Narrow nose OMIM:607944 ACP5 54 HP:0005387 Combined immunodeficiency OMIM:607944 ACP5 54 HP:0005576 Tubulointerstitial fibrosis OMIM:607944 ACP5 54 HP:0002091 Restrictive lung disease OMIM:607944 ACP5 54 HP:0000006 Autosomal dominant inheritance OMIM:607944 ACP5 54 HP:0001034 Hypermelanotic macule OMIM:607944 ACP5 54 HP:0003025 Metaphyseal irregularity OMIM:607944 ACP5 54 HP:0002958 Immune dysregulation OMIM:607944 ACP5 54 HP:0000821 Hypothyroidism OMIM:607944 ACP5 54 HP:0004979 Metaphyseal sclerosis OMIM:607944 ACP5 54 HP:0003621 Juvenile onset OMIM:607944 ACP5 54 HP:0007526 Hypopigmented skin patches on arms OMIM:607944 ACP5 54 HP:0002716 Lymphadenopathy OMIM:607944 ACP5 54 HP:0002657 Spondylometaphyseal dysplasia OMIM:175050 SMAD4 4089 HP:0002408 Cerebral arteriovenous malformation OMIM:175050 SMAD4 4089 HP:0006548 Pulmonary arteriovenous malformation OMIM:175050 SMAD4 4089 HP:0001009 Telangiectasia OMIM:175050 SMAD4 4089 HP:0006574 Hepatic arteriovenous malformation OMIM:175050 SMAD4 4089 HP:0000421 Epistaxis OMIM:175050 SMAD4 4089 HP:0004784 Juvenile gastrointestinal polyposis OMIM:175050 SMAD4 4089 HP:0000006 Autosomal dominant inheritance OMIM:175050 SMAD4 4089 HP:0001653 Mitral regurgitation OMIM:175050 SMAD4 4089 HP:0001724 Aortic dilatation OMIM:175050 SMAD4 4089 HP:0001903 Anemia OMIM:175050 SMAD4 4089 HP:0002672 Gastrointestinal carcinoma OMIM:175050 SMAD4 4089 HP:0001297 Stroke OMIM:175050 SMAD4 4089 HP:0001634 Mitral valve prolapse OMIM:175050 SMAD4 4089 HP:0004390 Hamartomatous polyposis OMIM:175050 SMAD4 4089 HP:0001217 Clubbing OMIM:175050 SMAD4 4089 HP:0002573 Hematochezia OMIM:304400 POU3F4 5456 HP:0000408 Progressive sensorineural hearing impairment OMIM:304400 POU3F4 5456 HP:0004458 Dilatated internal auditory canal OMIM:304400 POU3F4 5456 HP:0000405 Conductive hearing impairment OMIM:304400 POU3F4 5456 HP:0000381 Stapes ankylosis OMIM:304400 POU3F4 5456 HP:0001419 X-linked recessive inheritance OMIM:157170 SIX3 6496 HP:0001249 Intellectual disability OMIM:157170 SIX3 6496 HP:0001263 Global developmental delay OMIM:157170 SIX3 6496 HP:0003828 Variable expressivity OMIM:157170 SIX3 6496 HP:0001360 Holoprosencephaly OMIM:157170 SIX3 6496 HP:0001252 Muscular hypotonia OMIM:157170 SIX3 6496 HP:0000006 Autosomal dominant inheritance OMIM:157170 SIX3 6496 HP:0000568 Microphthalmos OMIM:157170 SIX3 6496 HP:0003745 Sporadic OMIM:157170 SIX3 6496 HP:0002019 Constipation OMIM:157170 SIX3 6496 HP:0009927 Aplasia of the nose OMIM:157170 SIX3 6496 HP:0000252 Microcephaly OMIM:157170 SIX3 6496 HP:0000873 Diabetes insipidus OMIM:157170 SIX3 6496 HP:0001425 Heterogeneous OMIM:157170 SIX3 6496 HP:0008501 Median cleft lip and palate OMIM:157170 SIX3 6496 HP:0000835 Adrenal hypoplasia OMIM:157170 SIX3 6496 HP:0000193 Bifid uvula OMIM:157170 SIX3 6496 HP:0003829 Incomplete penetrance OMIM:157170 SIX3 6496 HP:0001274 Agenesis of corpus callosum OMIM:157170 SIX3 6496 HP:0010626 Anterior pituitary agenesis OMIM:157170 SIX3 6496 HP:0000176 Submucous cleft hard palate OMIM:157170 SIX3 6496 HP:0000272 Malar flattening OMIM:157170 SIX3 6496 HP:0005273 Absent nasal septal cartilage OMIM:157170 SIX3 6496 HP:0006315 Single median maxillary incisor OMIM:157170 SIX3 6496 HP:0000601 Hypotelorism OMIM:157170 SIX3 6496 HP:0009914 Cyclopia OMIM:157170 SIX3 6496 HP:0001250 Seizures OMIM:157170 SIX3 6496 HP:0001321 Cerebellar hypoplasia OMIM:157170 SIX3 6496 HP:0011800 Midface retrusion OMIM:157170 SIX3 6496 HP:0002650 Scoliosis OMIM:268150 RHAG 6005 HP:0004446 Stomatocytosis OMIM:268150 RHAG 6005 HP:0005502 Increased red cell osmotic fragility OMIM:268150 RHAG 6005 HP:0000952 Jaundice OMIM:268150 RHAG 6005 HP:0000007 Autosomal recessive inheritance OMIM:268150 RHAG 6005 HP:0008282 Unconjugated hyperbilirubinemia OMIM:268150 RHAG 6005 HP:0001878 Hemolytic anemia OMIM:108721 FLNB 2317 HP:0000347 Micrognathia OMIM:108721 FLNB 2317 HP:0004632 Cervical segmentation defect OMIM:108721 FLNB 2317 HP:0011800 Midface retrusion OMIM:108721 FLNB 2317 HP:0000272 Malar flattening OMIM:108721 FLNB 2317 HP:0003042 Elbow dislocation OMIM:108721 FLNB 2317 HP:0001852 Sandal gap OMIM:108721 FLNB 2317 HP:0005280 Depressed nasal bridge OMIM:108721 FLNB 2317 HP:0003440 Horizontal sacrum OMIM:108721 FLNB 2317 HP:0000470 Short neck OMIM:108721 FLNB 2317 HP:0002007 Frontal bossing OMIM:108721 FLNB 2317 HP:0008905 Rhizomelia OMIM:108721 FLNB 2317 HP:0002986 Radial bowing OMIM:108721 FLNB 2317 HP:0002982 Tibial bowing OMIM:108721 FLNB 2317 HP:0000175 Cleft palate OMIM:108721 FLNB 2317 HP:0006060 Tombstone-shaped proximal phalanges OMIM:108721 FLNB 2317 HP:0002947 Cervical kyphosis OMIM:108721 FLNB 2317 HP:0000006 Autosomal dominant inheritance OMIM:108721 FLNB 2317 HP:0002650 Scoliosis OMIM:108721 FLNB 2317 HP:0001234 Hitchhiker thumb OMIM:108721 FLNB 2317 HP:0006200 Widened distal phalanges OMIM:108721 FLNB 2317 HP:0001762 Talipes equinovarus OMIM:108721 FLNB 2317 HP:0000327 Hypoplasia of the maxilla OMIM:108721 FLNB 2317 HP:0000269 Prominent occiput OMIM:108721 FLNB 2317 HP:0004976 Knee dislocation OMIM:108721 FLNB 2317 HP:0003180 Flat acetabular roof OMIM:614508 RAD51 5888 HP:0001335 Bimanual synkinesia OMIM:614508 RAD51 5888 HP:0003829 Incomplete penetrance OMIM:614508 RAD51 5888 HP:0000006 Autosomal dominant inheritance ORPHANET:99971 CDK4 1019 HP:0000079 Abnormality of the urinary system ORPHANET:99971 CDK4 1019 HP:0002242 Abnormality of the intestine ORPHANET:99971 CDK4 1019 HP:0100242 Sarcoma ORPHANET:99971 CDK4 1019 HP:0000951 Abnormality of the skin ORPHANET:99971 MDM2 4193 HP:0000079 Abnormality of the urinary system ORPHANET:99971 MDM2 4193 HP:0002242 Abnormality of the intestine ORPHANET:99971 MDM2 4193 HP:0100242 Sarcoma ORPHANET:99971 MDM2 4193 HP:0000951 Abnormality of the skin ORPHANET:99971 HMGA2 8091 HP:0000079 Abnormality of the urinary system ORPHANET:99971 HMGA2 8091 HP:0002242 Abnormality of the intestine ORPHANET:99971 HMGA2 8091 HP:0100242 Sarcoma ORPHANET:99971 HMGA2 8091 HP:0000951 Abnormality of the skin OMIM:270100 NODAL 4838 HP:0000007 Autosomal recessive inheritance OMIM:270100 NODAL 4838 HP:0001629 Ventricular septal defect OMIM:270100 NODAL 4838 HP:0003363 Abdominal situs inversus OMIM:270100 NODAL 4838 HP:0001631 Defect in the atrial septum OMIM:270100 NODAL 4838 HP:0001669 Transposition of the great arteries OMIM:270100 NODAL 4838 HP:0000006 Autosomal dominant inheritance OMIM:270100 NODAL 4838 HP:0001511 Intrauterine growth retardation OMIM:270100 NODAL 4838 HP:0002086 Abnormality of the respiratory system OMIM:302045 DMD 1756 HP:0001417 X-linked inheritance OMIM:302045 DMD 1756 HP:0001644 Dilated cardiomyopathy OMIM:615812 DYRK1B 9149 HP:0001956 Truncal obesity OMIM:615812 DYRK1B 9149 HP:0003124 Hypercholesterolemia OMIM:615812 DYRK1B 9149 HP:0012743 Abdominal obesity OMIM:615812 DYRK1B 9149 HP:0000822 Hypertension OMIM:615812 DYRK1B 9149 HP:0001297 Stroke OMIM:615527 TRAF3IP2 10758 HP:0012203 Onychomycosis OMIM:615527 TRAF3IP2 10758 HP:0000007 Autosomal recessive inheritance OMIM:615527 TRAF3IP2 10758 HP:0000158 Macroglossia OMIM:615527 TRAF3IP2 10758 HP:0000498 Blepharitis OMIM:606593 LIG4 3981 HP:0000347 Micrognathia OMIM:606593 LIG4 3981 HP:0000431 Wide nasal bridge OMIM:606593 LIG4 3981 HP:0002648 Abnormality of calvarial morphology OMIM:606593 LIG4 3981 HP:0000233 Thin vermilion border OMIM:606593 LIG4 3981 HP:0001974 Leukocytosis OMIM:606593 LIG4 3981 HP:0000582 Upslanted palpebral fissure OMIM:606593 LIG4 3981 HP:0005528 Bone marrow hypocellularity OMIM:606593 LIG4 3981 HP:0002240 Hepatomegaly OMIM:606593 LIG4 3981 HP:0000028 Cryptorchidism OMIM:606593 LIG4 3981 HP:0000294 Low anterior hairline OMIM:606593 LIG4 3981 HP:0000252 Microcephaly OMIM:606593 LIG4 3981 HP:0000821 Hypothyroidism OMIM:606593 LIG4 3981 HP:0002488 Acute leukemia OMIM:606593 LIG4 3981 HP:0000506 Telecanthus OMIM:606593 LIG4 3981 HP:0002716 Lymphadenopathy OMIM:606593 LIG4 3981 HP:0002665 Lymphoma OMIM:606593 LIG4 3981 HP:0100543 Cognitive impairment OMIM:606593 LIG4 3981 HP:0003220 Abnormality of chromosome stability OMIM:606593 LIG4 3981 HP:0000341 Narrow forehead OMIM:606593 LIG4 3981 HP:0004209 Clinodactyly of the 5th finger OMIM:606593 LIG4 3981 HP:0000992 Cutaneous photosensitivity OMIM:606593 LIG4 3981 HP:0002024 Malabsorption OMIM:606593 LIG4 3981 HP:0005105 Abnormal nasal morphology OMIM:606593 LIG4 3981 HP:0100585 Teleangiectasia of the skin OMIM:606593 LIG4 3981 HP:0000286 Epicanthus OMIM:606593 LIG4 3981 HP:0005978 Type II diabetes mellitus OMIM:606593 LIG4 3981 HP:0004430 Severe combined immunodeficiency OMIM:606593 LIG4 3981 HP:0008736 Hypoplasia of penis OMIM:615768 STUB1 10273 HP:0001272 Cerebellar atrophy OMIM:615768 STUB1 10273 HP:0000639 Nystagmus OMIM:615768 STUB1 10273 HP:0001321 Cerebellar hypoplasia OMIM:615768 STUB1 10273 HP:0011448 Ankle clonus OMIM:615768 STUB1 10273 HP:0002317 Unsteady gait OMIM:615768 STUB1 10273 HP:0000544 External ophthalmoplegia OMIM:615768 STUB1 10273 HP:0001257 Spasticity OMIM:615768 STUB1 10273 HP:0002078 Truncal ataxia OMIM:615768 STUB1 10273 HP:0002070 Limb ataxia OMIM:615768 STUB1 10273 HP:0001337 Tremor OMIM:615768 STUB1 10273 HP:0001260 Dysarthria OMIM:182280 RB1 5925 HP:0000006 Autosomal dominant inheritance OMIM:182280 RB1 5925 HP:0100526 Neoplasm of the lung ORPHANET:388 RET 5979 HP:0001181 Adducted thumb ORPHANET:388 RET 5979 HP:0200008 Intestinal polyposis ORPHANET:388 RET 5979 HP:0000407 Sensorineural hearing impairment ORPHANET:388 RET 5979 HP:0002019 Constipation ORPHANET:388 RET 5979 HP:0002017 Nausea and vomiting ORPHANET:388 RET 5979 HP:0100543 Cognitive impairment ORPHANET:388 RET 5979 HP:0002027 Abdominal pain ORPHANET:388 RET 5979 HP:0002251 Aganglionic megacolon ORPHANET:388 RET 5979 HP:0002014 Diarrhea ORPHANET:388 RET 5979 HP:0001824 Weight loss ORPHANET:388 RET 5979 HP:0100806 Sepsis ORPHANET:388 RET 5979 HP:0005214 Intestinal obstruction ORPHANET:388 RET 5979 HP:0100031 Neoplasm of the thyroid gland ORPHANET:388 RET 5979 HP:0004322 Short stature ORPHANET:388 NRTN 4902 HP:0001181 Adducted thumb ORPHANET:388 NRTN 4902 HP:0200008 Intestinal polyposis ORPHANET:388 NRTN 4902 HP:0000407 Sensorineural hearing impairment ORPHANET:388 NRTN 4902 HP:0002019 Constipation ORPHANET:388 NRTN 4902 HP:0002017 Nausea and vomiting ORPHANET:388 NRTN 4902 HP:0100543 Cognitive impairment ORPHANET:388 NRTN 4902 HP:0002027 Abdominal pain ORPHANET:388 NRTN 4902 HP:0002251 Aganglionic megacolon ORPHANET:388 NRTN 4902 HP:0002014 Diarrhea ORPHANET:388 NRTN 4902 HP:0001824 Weight loss ORPHANET:388 NRTN 4902 HP:0100806 Sepsis ORPHANET:388 NRTN 4902 HP:0005214 Intestinal obstruction ORPHANET:388 NRTN 4902 HP:0100031 Neoplasm of the thyroid gland ORPHANET:388 NRTN 4902 HP:0004322 Short stature ORPHANET:388 ECE1 1889 HP:0001181 Adducted thumb ORPHANET:388 ECE1 1889 HP:0200008 Intestinal polyposis ORPHANET:388 ECE1 1889 HP:0000407 Sensorineural hearing impairment ORPHANET:388 ECE1 1889 HP:0002019 Constipation ORPHANET:388 ECE1 1889 HP:0002017 Nausea and vomiting ORPHANET:388 ECE1 1889 HP:0100543 Cognitive impairment ORPHANET:388 ECE1 1889 HP:0002027 Abdominal pain ORPHANET:388 ECE1 1889 HP:0002251 Aganglionic megacolon ORPHANET:388 ECE1 1889 HP:0002014 Diarrhea ORPHANET:388 ECE1 1889 HP:0001824 Weight loss ORPHANET:388 ECE1 1889 HP:0100806 Sepsis ORPHANET:388 ECE1 1889 HP:0005214 Intestinal obstruction ORPHANET:388 ECE1 1889 HP:0100031 Neoplasm of the thyroid gland ORPHANET:388 ECE1 1889 HP:0004322 Short stature ORPHANET:388 EDN3 1908 HP:0001181 Adducted thumb ORPHANET:388 EDN3 1908 HP:0200008 Intestinal polyposis ORPHANET:388 EDN3 1908 HP:0000407 Sensorineural hearing impairment ORPHANET:388 EDN3 1908 HP:0002019 Constipation ORPHANET:388 EDN3 1908 HP:0002017 Nausea and vomiting ORPHANET:388 EDN3 1908 HP:0100543 Cognitive impairment ORPHANET:388 EDN3 1908 HP:0002027 Abdominal pain ORPHANET:388 EDN3 1908 HP:0002251 Aganglionic megacolon ORPHANET:388 EDN3 1908 HP:0002014 Diarrhea ORPHANET:388 EDN3 1908 HP:0001824 Weight loss ORPHANET:388 EDN3 1908 HP:0100806 Sepsis ORPHANET:388 EDN3 1908 HP:0005214 Intestinal obstruction ORPHANET:388 EDN3 1908 HP:0100031 Neoplasm of the thyroid gland ORPHANET:388 EDN3 1908 HP:0004322 Short stature ORPHANET:388 GDNF 2668 HP:0001181 Adducted thumb ORPHANET:388 GDNF 2668 HP:0200008 Intestinal polyposis ORPHANET:388 GDNF 2668 HP:0000407 Sensorineural hearing impairment ORPHANET:388 GDNF 2668 HP:0002019 Constipation ORPHANET:388 GDNF 2668 HP:0002017 Nausea and vomiting ORPHANET:388 GDNF 2668 HP:0100543 Cognitive impairment ORPHANET:388 GDNF 2668 HP:0002027 Abdominal pain ORPHANET:388 GDNF 2668 HP:0002251 Aganglionic megacolon ORPHANET:388 GDNF 2668 HP:0002014 Diarrhea ORPHANET:388 GDNF 2668 HP:0001824 Weight loss ORPHANET:388 GDNF 2668 HP:0100806 Sepsis ORPHANET:388 GDNF 2668 HP:0005214 Intestinal obstruction ORPHANET:388 GDNF 2668 HP:0100031 Neoplasm of the thyroid gland ORPHANET:388 GDNF 2668 HP:0004322 Short stature ORPHANET:388 EDNRB 1910 HP:0001181 Adducted thumb ORPHANET:388 EDNRB 1910 HP:0200008 Intestinal polyposis ORPHANET:388 EDNRB 1910 HP:0000407 Sensorineural hearing impairment ORPHANET:388 EDNRB 1910 HP:0002019 Constipation ORPHANET:388 EDNRB 1910 HP:0002017 Nausea and vomiting ORPHANET:388 EDNRB 1910 HP:0100543 Cognitive impairment ORPHANET:388 EDNRB 1910 HP:0002027 Abdominal pain ORPHANET:388 EDNRB 1910 HP:0002251 Aganglionic megacolon ORPHANET:388 EDNRB 1910 HP:0002014 Diarrhea ORPHANET:388 EDNRB 1910 HP:0001824 Weight loss ORPHANET:388 EDNRB 1910 HP:0100806 Sepsis ORPHANET:388 EDNRB 1910 HP:0005214 Intestinal obstruction ORPHANET:388 EDNRB 1910 HP:0100031 Neoplasm of the thyroid gland ORPHANET:388 EDNRB 1910 HP:0004322 Short stature OMIM:613837 IMPDH1 3614 HP:0000505 Visual impairment OMIM:613837 IMPDH1 3614 HP:0000639 Nystagmus OMIM:613837 IMPDH1 3614 HP:0000006 Autosomal dominant inheritance OMIM:608908 SCO2 9997 HP:0000545 Myopia OMIM:608908 SCO2 9997 HP:0000006 Autosomal dominant inheritance OMIM:610852 NME8 51314 HP:0200109 Absent/shortened outer dynein arms OMIM:610852 NME8 51314 HP:0012265 Ciliary dyskinesia OMIM:610852 NME8 51314 HP:0002205 Recurrent respiratory infections OMIM:610852 NME8 51314 HP:0000007 Autosomal recessive inheritance OMIM:610852 NME8 51314 HP:0011108 Recurrent sinusitis OMIM:610852 NME8 51314 HP:0000246 Sinusitis OMIM:610852 NME8 51314 HP:0012262 Abnormal ciliary motility OMIM:610852 NME8 51314 HP:0005938 Abnormal respiratory motile cilium morphology OMIM:601631 FOXC1 2296 HP:0000006 Autosomal dominant inheritance OMIM:601631 FOXC1 2296 HP:0002280 Enlarged cisterna magna OMIM:601631 FOXC1 2296 HP:0007990 Hypoplastic iris stroma OMIM:601631 FOXC1 2296 HP:0007905 Abnormal iris vasculature OMIM:601631 FOXC1 2296 HP:0001320 Cerebellar vermis hypoplasia OMIM:601631 FOXC1 2296 HP:0000501 Glaucoma OMIM:178635 SFTPD 6441 HP:0002715 Abnormality of the immune system OMIM:178635 SFTPD 6441 HP:0000006 Autosomal dominant inheritance OMIM:616094 POMK 84197 HP:0003560 Muscular dystrophy OMIM:616094 POMK 84197 HP:0001265 Hyporeflexia OMIM:616094 POMK 84197 HP:0003551 Difficulty climbing stairs OMIM:616094 POMK 84197 HP:0001319 Neonatal hypotonia OMIM:616094 POMK 84197 HP:0003236 Elevated serum creatine phosphokinase OMIM:616094 POMK 84197 HP:0001270 Motor delay OMIM:616094 POMK 84197 HP:0100543 Cognitive impairment OMIM:616094 POMK 84197 HP:0003391 Gowers sign OMIM:201450 ACADM 34 HP:0002910 Elevated hepatic transaminases OMIM:201450 ACADM 34 HP:0003108 Hyperglycinuria OMIM:201450 ACADM 34 HP:0001942 Metabolic acidosis OMIM:201450 ACADM 34 HP:0001252 Muscular hypotonia OMIM:201450 ACADM 34 HP:0001254 Lethargy OMIM:201450 ACADM 34 HP:0001250 Seizures OMIM:201450 ACADM 34 HP:0002013 Vomiting OMIM:201450 ACADM 34 HP:0002240 Hepatomegaly OMIM:201450 ACADM 34 HP:0001259 Coma OMIM:201450 ACADM 34 HP:0002181 Cerebral edema OMIM:201450 ACADM 34 HP:0008309 Medium chain dicarboxylic aciduria OMIM:201450 ACADM 34 HP:0001943 Hypoglycemia OMIM:201450 ACADM 34 HP:0001263 Global developmental delay OMIM:201450 ACADM 34 HP:0000007 Autosomal recessive inheritance OMIM:201450 ACADM 34 HP:0003234 Decreased plasma carnitine OMIM:201450 ACADM 34 HP:0001397 Hepatic steatosis OMIM:137580 SLITRK1 114798 HP:0000718 Aggressive behavior OMIM:137580 SLITRK1 114798 HP:0000006 Autosomal dominant inheritance OMIM:137580 SLITRK1 114798 HP:0000722 Obsessive-compulsive behavior OMIM:137580 SLITRK1 114798 HP:0010529 Echolalia OMIM:137580 SLITRK1 114798 HP:0100035 Phonic tics OMIM:137580 SLITRK1 114798 HP:0100034 Motor tics OMIM:137580 SLITRK1 114798 HP:0002360 Sleep disturbance OMIM:137580 SLITRK1 114798 HP:0000742 Self-mutilation OMIM:137580 SLITRK1 114798 HP:0007018 Attention deficit hyperactivity disorder ORPHANET:1173 PNPLA6 10908 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:1173 PNPLA6 10908 HP:0002167 Neurological speech impairment ORPHANET:1173 PNPLA6 10908 HP:0001252 Muscular hypotonia ORPHANET:1173 PNPLA6 10908 HP:0002376 Developmental regression ORPHANET:1173 PNPLA6 10908 HP:0000771 Gynecomastia ORPHANET:1173 PNPLA6 10908 HP:0002311 Incoordination ORPHANET:1173 PNPLA6 10908 HP:0000512 Abnormal electroretinogram ORPHANET:1173 PNPLA6 10908 HP:0004374 Hemiplegia/hemiparesis ORPHANET:1173 PNPLA6 10908 HP:0000648 Optic atrophy ORPHANET:1173 PNPLA6 10908 HP:0000708 Behavioral abnormality ORPHANET:1173 PNPLA6 10908 HP:0002558 Supernumerary nipple ORPHANET:1173 PNPLA6 10908 HP:0000639 Nystagmus ORPHANET:1173 PNPLA6 10908 HP:0004209 Clinodactyly of the 5th finger ORPHANET:1173 PNPLA6 10908 HP:0002648 Abnormality of calvarial morphology ORPHANET:1173 PNPLA6 10908 HP:0007703 Abnormal retinal pigmentation ORPHANET:1173 PNPLA6 10908 HP:0004322 Short stature ORPHANET:1173 PNPLA6 10908 HP:0000144 Decreased fertility ORPHANET:1173 RNF216 54476 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:1173 RNF216 54476 HP:0002167 Neurological speech impairment ORPHANET:1173 RNF216 54476 HP:0001252 Muscular hypotonia ORPHANET:1173 RNF216 54476 HP:0002376 Developmental regression ORPHANET:1173 RNF216 54476 HP:0000771 Gynecomastia ORPHANET:1173 RNF216 54476 HP:0002311 Incoordination ORPHANET:1173 RNF216 54476 HP:0000512 Abnormal electroretinogram ORPHANET:1173 RNF216 54476 HP:0004374 Hemiplegia/hemiparesis ORPHANET:1173 RNF216 54476 HP:0000648 Optic atrophy ORPHANET:1173 RNF216 54476 HP:0000708 Behavioral abnormality ORPHANET:1173 RNF216 54476 HP:0002558 Supernumerary nipple ORPHANET:1173 RNF216 54476 HP:0000639 Nystagmus ORPHANET:1173 RNF216 54476 HP:0004209 Clinodactyly of the 5th finger ORPHANET:1173 RNF216 54476 HP:0002648 Abnormality of calvarial morphology ORPHANET:1173 RNF216 54476 HP:0007703 Abnormal retinal pigmentation ORPHANET:1173 RNF216 54476 HP:0004322 Short stature ORPHANET:1173 RNF216 54476 HP:0000144 Decreased fertility OMIM:203300 HPS1 3257 HP:0007603 Freckles in sun-exposed areas OMIM:203300 HPS1 3257 HP:0000978 Bruising susceptibility OMIM:203300 HPS1 3257 HP:0000225 Gingival bleeding OMIM:203300 HPS1 3257 HP:0003010 Prolonged bleeding time OMIM:203300 HPS1 3257 HP:0000421 Epistaxis OMIM:203300 HPS1 3257 HP:0002091 Restrictive lung disease OMIM:203300 HPS1 3257 HP:0001638 Cardiomyopathy OMIM:203300 HPS1 3257 HP:0001022 Albinism OMIM:203300 HPS1 3257 HP:0001425 Heterogeneous OMIM:203300 HPS1 3257 HP:0002206 Pulmonary fibrosis OMIM:203300 HPS1 3257 HP:0002027 Abdominal pain OMIM:203300 HPS1 3257 HP:0001141 Severe visual impairment OMIM:203300 HPS1 3257 HP:0002037 Inflammation of the large intestine OMIM:203300 HPS1 3257 HP:0000995 Melanocytic nevus OMIM:203300 HPS1 3257 HP:0001107 Ocular albinism OMIM:203300 HPS1 3257 HP:0002573 Hematochezia OMIM:203300 HPS1 3257 HP:0000083 Renal insufficiency OMIM:203300 HPS1 3257 HP:0000639 Nystagmus OMIM:203300 HPS1 3257 HP:0000007 Autosomal recessive inheritance OMIM:203300 HPS1 3257 HP:0001480 Freckling OMIM:203300 HPS1 3257 HP:0001595 Abnormality of the hair OMIM:113750 SLC24A5 283652 HP:0000613 Photophobia OMIM:113750 SLC24A5 283652 HP:0000505 Visual impairment OMIM:113750 SLC24A5 283652 HP:0000006 Autosomal dominant inheritance OMIM:113750 SLC24A5 283652 HP:0000007 Autosomal recessive inheritance OMIM:113750 SLC24A5 283652 HP:0001595 Abnormality of the hair OMIM:113750 SLC24A5 283652 HP:0000639 Nystagmus OMIM:614833 RTTN 25914 HP:0003502 Mild short stature OMIM:614833 RTTN 25914 HP:0000252 Microcephaly OMIM:614833 RTTN 25914 HP:0002353 EEG abnormality OMIM:614833 RTTN 25914 HP:0001273 Abnormality of the corpus callosum OMIM:614833 RTTN 25914 HP:0007256 Abnormal pyramidal signs OMIM:614833 RTTN 25914 HP:0002126 Polymicrogyria OMIM:614833 RTTN 25914 HP:0001250 Seizures OMIM:614833 RTTN 25914 HP:0002465 Poor speech OMIM:614833 RTTN 25914 HP:0001257 Spasticity OMIM:614833 RTTN 25914 HP:0002342 Intellectual disability, moderate OMIM:614833 RTTN 25914 HP:0001260 Dysarthria OMIM:614833 RTTN 25914 HP:0000007 Autosomal recessive inheritance OMIM:613670 FOXP1 27086 HP:0000494 Downslanted palpebral fissures OMIM:613670 FOXP1 27086 HP:0003196 Short nose OMIM:613670 FOXP1 27086 HP:0001249 Intellectual disability OMIM:613670 FOXP1 27086 HP:0000718 Aggressive behavior OMIM:613670 FOXP1 27086 HP:0001513 Obesity OMIM:613670 FOXP1 27086 HP:0000752 Hyperactivity OMIM:613670 FOXP1 27086 HP:0000006 Autosomal dominant inheritance OMIM:613670 FOXP1 27086 HP:0000750 Delayed speech and language development OMIM:613670 FOXP1 27086 HP:0000455 Broad nasal tip OMIM:613670 FOXP1 27086 HP:0000194 Open mouth OMIM:613670 FOXP1 27086 HP:0000733 Stereotypic behavior OMIM:613670 FOXP1 27086 HP:0000256 Macrocephaly OMIM:613670 FOXP1 27086 HP:0002194 Delayed gross motor development OMIM:613670 FOXP1 27086 HP:0011220 Prominent forehead OMIM:601238 ATCAY 85300 HP:0001263 Global developmental delay OMIM:601238 ATCAY 85300 HP:0001252 Muscular hypotonia OMIM:601238 ATCAY 85300 HP:0000639 Nystagmus OMIM:601238 ATCAY 85300 HP:0001260 Dysarthria OMIM:601238 ATCAY 85300 HP:0000007 Autosomal recessive inheritance OMIM:601238 ATCAY 85300 HP:0002066 Gait ataxia OMIM:601238 ATCAY 85300 HP:0002080 Intention tremor OMIM:601238 ATCAY 85300 HP:0002136 Broad-based gait OMIM:239850 ABCC9 10060 HP:0002750 Delayed skeletal maturation OMIM:239850 ABCC9 10060 HP:0000286 Epicanthus OMIM:239850 ABCC9 10060 HP:0000926 Platyspondyly OMIM:239850 ABCC9 10060 HP:0001640 Cardiomegaly OMIM:239850 ABCC9 10060 HP:0006101 Finger syndactyly OMIM:239850 ABCC9 10060 HP:0001643 Patent ductus arteriosus OMIM:239850 ABCC9 10060 HP:0001647 Bicuspid aortic valve OMIM:239850 ABCC9 10060 HP:0004975 Erlenmeyer flask deformity of the femurs OMIM:239850 ABCC9 10060 HP:0001537 Umbilical hernia OMIM:239850 ABCC9 10060 HP:0003300 Ovoid vertebral bodies OMIM:239850 ABCC9 10060 HP:0000574 Thick eyebrow OMIM:239850 ABCC9 10060 HP:0000179 Thick lower lip vermilion OMIM:239850 ABCC9 10060 HP:0004349 Reduced bone mineral density OMIM:239850 ABCC9 10060 HP:0000431 Wide nasal bridge OMIM:239850 ABCC9 10060 HP:0000256 Macrocephaly OMIM:239850 ABCC9 10060 HP:0002162 Low posterior hairline OMIM:239850 ABCC9 10060 HP:0001520 Large for gestational age OMIM:239850 ABCC9 10060 HP:0002673 Coxa valga OMIM:239850 ABCC9 10060 HP:0000343 Long philtrum OMIM:239850 ABCC9 10060 HP:0010109 Short hallux OMIM:239850 ABCC9 10060 HP:0000006 Autosomal dominant inheritance OMIM:239850 ABCC9 10060 HP:0000463 Anteverted nares OMIM:239850 ABCC9 10060 HP:0000998 Hypertrichosis OMIM:239850 ABCC9 10060 HP:0000154 Wide mouth OMIM:239850 ABCC9 10060 HP:0000280 Coarse facial features OMIM:239850 ABCC9 10060 HP:0003016 Metaphyseal widening OMIM:239850 ABCC9 10060 HP:0000774 Narrow chest OMIM:239850 ABCC9 10060 HP:0011220 Prominent forehead OMIM:239850 ABCC9 10060 HP:0010055 Broad hallux OMIM:239850 ABCC9 10060 HP:0000212 Gingival overgrowth OMIM:239850 ABCC9 10060 HP:0000772 Abnormality of the ribs OMIM:239850 ABCC9 10060 HP:0000215 Thick upper lip vermilion OMIM:239850 ABCC9 10060 HP:0000336 Prominent supraorbital ridges OMIM:239850 ABCC9 10060 HP:0000527 Long eyelashes OMIM:239850 ABCC9 10060 HP:0003043 Abnormality of the shoulder OMIM:239850 ABCC9 10060 HP:0009882 Short distal phalanx of finger OMIM:239850 ABCC9 10060 HP:0000470 Short neck OMIM:239850 ABCC9 10060 HP:0100543 Cognitive impairment OMIM:239850 ABCC9 10060 HP:0003272 Abnormality of the hip bone OMIM:239850 ABCC9 10060 HP:0008822 Hypoplastic ischiopubic rami OMIM:239850 ABCC9 10060 HP:0000294 Low anterior hairline OMIM:239850 ABCC9 10060 HP:0001256 Intellectual disability, mild OMIM:239850 ABCC9 10060 HP:0002652 Skeletal dysplasia OMIM:239850 ABCC9 10060 HP:0010068 Broad first metatarsal OMIM:239850 ABCC9 10060 HP:0002690 Large sella turcica OMIM:239850 ABCC9 10060 HP:0004540 Congenital, generalized hypertrichosis OMIM:239850 ABCC9 10060 HP:0001639 Hypertrophic cardiomyopathy OMIM:239850 ABCC9 10060 HP:0005445 Widened posterior fossa OMIM:239850 ABCC9 10060 HP:0001004 Lymphedema OMIM:239850 ABCC9 10060 HP:0004634 Cuboid-shaped vertebral bodies OMIM:239850 ABCC9 10060 HP:0005129 Congenital hypertrophy of left ventricle OMIM:239850 ABCC9 10060 HP:0001654 Abnormality of the heart valves OMIM:239850 ABCC9 10060 HP:0001698 Pericardial effusion OMIM:239850 ABCC9 10060 HP:0005616 Accelerated skeletal maturation OMIM:239850 ABCC9 10060 HP:0005280 Depressed nasal bridge OMIM:239850 ABCC9 10060 HP:0001841 Preaxial foot polydactyly OMIM:239850 ABCC9 10060 HP:0007665 Curly eyelashes OMIM:239850 ABCC9 10060 HP:0000939 Osteoporosis OMIM:239850 ABCC9 10060 HP:0000944 Abnormality of the metaphyses OMIM:239850 ABCC9 10060 HP:0001869 Deep plantar creases OMIM:604571 TAP1 6890 HP:0011950 Bronchiolitis OMIM:604571 TAP1 6890 HP:0100582 Nasal polyposis OMIM:604571 TAP1 6890 HP:0002837 Recurrent bronchitis OMIM:604571 TAP1 6890 HP:0002097 Emphysema OMIM:604571 TAP1 6890 HP:0200042 Skin ulcer OMIM:604571 TAP1 6890 HP:0002110 Bronchiectasis OMIM:604571 TAP1 6890 HP:0001083 Ectopia lentis OMIM:604571 TAP1 6890 HP:0011109 Chronic sinusitis OMIM:604571 TAP1 6890 HP:0000007 Autosomal recessive inheritance OMIM:604571 TAP1 6890 HP:0000389 Chronic otitis media OMIM:604571 TAP2 6891 HP:0011950 Bronchiolitis OMIM:604571 TAP2 6891 HP:0100582 Nasal polyposis OMIM:604571 TAP2 6891 HP:0002837 Recurrent bronchitis OMIM:604571 TAP2 6891 HP:0002097 Emphysema OMIM:604571 TAP2 6891 HP:0200042 Skin ulcer OMIM:604571 TAP2 6891 HP:0002110 Bronchiectasis OMIM:604571 TAP2 6891 HP:0001083 Ectopia lentis OMIM:604571 TAP2 6891 HP:0011109 Chronic sinusitis OMIM:604571 TAP2 6891 HP:0000007 Autosomal recessive inheritance OMIM:604571 TAP2 6891 HP:0000389 Chronic otitis media OMIM:604571 TAPBP 6892 HP:0011950 Bronchiolitis OMIM:604571 TAPBP 6892 HP:0100582 Nasal polyposis OMIM:604571 TAPBP 6892 HP:0002837 Recurrent bronchitis OMIM:604571 TAPBP 6892 HP:0002097 Emphysema OMIM:604571 TAPBP 6892 HP:0200042 Skin ulcer OMIM:604571 TAPBP 6892 HP:0002110 Bronchiectasis OMIM:604571 TAPBP 6892 HP:0001083 Ectopia lentis OMIM:604571 TAPBP 6892 HP:0011109 Chronic sinusitis OMIM:604571 TAPBP 6892 HP:0000007 Autosomal recessive inheritance OMIM:604571 TAPBP 6892 HP:0000389 Chronic otitis media ORPHANET:1956 SCN9A 6335 HP:0002633 Vasculitis ORPHANET:1956 SCN9A 6335 HP:0000989 Pruritus ORPHANET:1956 SCN9A 6335 HP:0001909 Leukemia ORPHANET:1956 SCN9A 6335 HP:0002045 Hypothermia ORPHANET:1956 SCN9A 6335 HP:0001872 Abnormality of thrombocytes ORPHANET:1956 SCN9A 6335 HP:0002205 Recurrent respiratory infections ORPHANET:1956 SCN9A 6335 HP:0009830 Peripheral neuropathy OMIM:104200 COL4A3 1285 HP:0001142 Lenticonus OMIM:104200 COL4A3 1285 HP:0003774 Stage 5 chronic kidney disease OMIM:104200 COL4A3 1285 HP:0000093 Proteinuria OMIM:104200 COL4A3 1285 HP:0000121 Nephrocalcinosis OMIM:104200 COL4A3 1285 HP:0000100 Nephrotic syndrome OMIM:104200 COL4A3 1285 HP:0000407 Sensorineural hearing impairment OMIM:104200 COL4A3 1285 HP:0000545 Myopia OMIM:104200 COL4A3 1285 HP:0000822 Hypertension OMIM:104200 COL4A3 1285 HP:0003676 Progressive disorder OMIM:104200 COL4A3 1285 HP:0004722 Thickening of the glomerular basement membrane OMIM:104200 COL4A3 1285 HP:0001134 Anterior polar cataract OMIM:104200 COL4A3 1285 HP:0002148 Hypophosphatemia OMIM:104200 COL4A3 1285 HP:0000006 Autosomal dominant inheritance OMIM:104200 COL4A3 1285 HP:0000099 Glomerulonephritis OMIM:104200 COL4A3 1285 HP:0000790 Hematuria OMIM:104200 COL4A3 1285 HP:0002157 Azotemia OMIM:104200 COL4A3 1285 HP:0030034 Diffuse glomerular basement membrane lamellation OMIM:187300 ENG 2022 HP:0006548 Pulmonary arteriovenous malformation OMIM:187300 ENG 2022 HP:0001901 Polycythemia OMIM:187300 ENG 2022 HP:0002138 Subarachnoid hemorrhage OMIM:187300 ENG 2022 HP:0002326 Transient ischemic attack OMIM:187300 ENG 2022 HP:0002707 Palate telangiectasia OMIM:187300 ENG 2022 HP:0000434 Nasal mucosa telangiectasia OMIM:187300 ENG 2022 HP:0002076 Migraine OMIM:187300 ENG 2022 HP:0002408 Cerebral arteriovenous malformation OMIM:187300 ENG 2022 HP:0001232 Nail bed telangiectasia OMIM:187300 ENG 2022 HP:0002094 Dyspnea OMIM:187300 ENG 2022 HP:0001394 Cirrhosis OMIM:187300 ENG 2022 HP:0030049 Brain abscess OMIM:187300 ENG 2022 HP:0000227 Tongue telangiectasia OMIM:187300 ENG 2022 HP:0001217 Clubbing OMIM:187300 ENG 2022 HP:0002249 Melena OMIM:187300 ENG 2022 HP:0011934 Mesenteric artery aneurysm OMIM:187300 ENG 2022 HP:0006574 Hepatic arteriovenous malformation OMIM:187300 ENG 2022 HP:0002140 Ischemic stroke OMIM:187300 ENG 2022 HP:0006107 Fingerpad telangiectases OMIM:187300 ENG 2022 HP:0000006 Autosomal dominant inheritance OMIM:187300 ENG 2022 HP:0001250 Seizures OMIM:187300 ENG 2022 HP:0002629 Gastrointestinal arteriovenous malformation OMIM:187300 ENG 2022 HP:0000961 Cyanosis OMIM:187300 ENG 2022 HP:0001694 Right-to-left shunt OMIM:187300 ENG 2022 HP:0001425 Heterogeneous OMIM:187300 ENG 2022 HP:0002390 Spinal arteriovenous malformation OMIM:187300 ENG 2022 HP:0004406 Spontaneous, recurrent epistaxis OMIM:187300 ENG 2022 HP:0001903 Anemia OMIM:187300 ENG 2022 HP:0000524 Conjunctival telangiectasia OMIM:187300 ENG 2022 HP:0002604 Gastrointestinal telangiectasia OMIM:187300 ENG 2022 HP:0002626 Venous varicosities of celiac and mesenteric vessels OMIM:187300 ENG 2022 HP:0002573 Hematochezia OMIM:187300 ENG 2022 HP:0000214 Lip telangiectasia OMIM:187300 ENG 2022 HP:0100858 Celiac artery aneurysm OMIM:187300 ENG 2022 HP:0002642 Arteriovenous fistulas of celiac and mesenteric vessels OMIM:187300 ENG 2022 HP:0001342 Cerebral hemorrhage OMIM:187300 ENG 2022 HP:0001722 High-output congestive heart failure OMIM:187300 ENG 2022 HP:0000471 Gastrointestinal angiodysplasia OMIM:187300 ENG 2022 HP:0002248 Hematemesis OMIM:169600 ATP2C1 27032 HP:0100792 Acantholysis OMIM:169600 ATP2C1 27032 HP:0000962 Hyperkeratosis OMIM:169600 ATP2C1 27032 HP:0000163 Abnormality of the oral cavity OMIM:169600 ATP2C1 27032 HP:0200042 Skin ulcer OMIM:169600 ATP2C1 27032 HP:0008066 Abnormal blistering of the skin OMIM:169600 ATP2C1 27032 HP:0010783 Erythema OMIM:169600 ATP2C1 27032 HP:0000006 Autosomal dominant inheritance OMIM:614279 AKR1C2 1646 HP:0000062 Ambiguous genitalia OMIM:614279 AKR1C2 1646 HP:0012245 Sex reversal OMIM:614279 AKR1C2 1646 HP:0000028 Cryptorchidism OMIM:614279 AKR1C2 1646 HP:0000007 Autosomal recessive inheritance OMIM:614279 AKR1C2 1646 HP:0000037 Male pseudohermaphroditism OMIM:612285 CC2D2A 57545 HP:0000007 Autosomal recessive inheritance OMIM:612285 CC2D2A 57545 HP:0000639 Nystagmus OMIM:612285 CC2D2A 57545 HP:0001249 Intellectual disability OMIM:612285 CC2D2A 57545 HP:0001250 Seizures OMIM:612285 CC2D2A 57545 HP:0002119 Ventriculomegaly OMIM:612285 CC2D2A 57545 HP:0000518 Cataract OMIM:612285 CC2D2A 57545 HP:0000483 Astigmatism OMIM:612285 CC2D2A 57545 HP:0002419 Molar tooth sign on MRI OMIM:612285 CC2D2A 57545 HP:0000510 Retinitis pigmentosa ORPHANET:30925 AVP 551 HP:0002024 Malabsorption ORPHANET:30925 AVP 551 HP:0004372 Reduced consciousness/confusion ORPHANET:30925 AVP 551 HP:0004370 Abnormality of temperature regulation ORPHANET:30925 AVP 551 HP:0002017 Nausea and vomiting ORPHANET:30925 AVP 551 HP:0001824 Weight loss ORPHANET:30925 AVP 551 HP:0012211 Abnormal renal physiology ORPHANET:30925 AVP 551 HP:0000708 Behavioral abnormality ORPHANET:30925 AVP 551 HP:0000873 Diabetes insipidus OMIM:309900 IDS 3423 HP:0000684 Delayed eruption of teeth OMIM:309900 IDS 3423 HP:0001250 Seizures OMIM:309900 IDS 3423 HP:0002180 Neurodegeneration OMIM:309900 IDS 3423 HP:0002159 Heparan sulfate excretion in urine OMIM:309900 IDS 3423 HP:0002024 Malabsorption OMIM:309900 IDS 3423 HP:0000403 Recurrent otitis media OMIM:309900 IDS 3423 HP:0000470 Short neck OMIM:309900 IDS 3423 HP:0003272 Abnormality of the hip bone OMIM:309900 IDS 3423 HP:0000268 Dolichocephaly OMIM:309900 IDS 3423 HP:0000158 Macroglossia OMIM:309900 IDS 3423 HP:0004322 Short stature OMIM:309900 IDS 3423 HP:0000365 Hearing impairment OMIM:309900 IDS 3423 HP:0002099 Asthma OMIM:309900 IDS 3423 HP:0001072 Thickened skin OMIM:309900 IDS 3423 HP:0000023 Inguinal hernia OMIM:309900 IDS 3423 HP:0002808 Kyphosis OMIM:309900 IDS 3423 HP:0002786 Tracheobronchomalacia OMIM:309900 IDS 3423 HP:0000179 Thick lower lip vermilion OMIM:309900 IDS 3423 HP:0001654 Abnormality of the heart valves OMIM:309900 IDS 3423 HP:0000280 Coarse facial features OMIM:309900 IDS 3423 HP:0000767 Pectus excavatum OMIM:309900 IDS 3423 HP:0001609 Hoarse voice OMIM:309900 IDS 3423 HP:0001371 Flexion contracture OMIM:309900 IDS 3423 HP:0000303 Mandibular prognathia OMIM:309900 IDS 3423 HP:0010978 Abnormality of immune system physiology OMIM:309900 IDS 3423 HP:0000708 Behavioral abnormality OMIM:309900 IDS 3423 HP:0000648 Optic atrophy OMIM:309900 IDS 3423 HP:0002240 Hepatomegaly OMIM:309900 IDS 3423 HP:0000943 Dysostosis multiplex OMIM:309900 IDS 3423 HP:0000687 Widely spaced teeth OMIM:309900 IDS 3423 HP:0000256 Macrocephaly OMIM:309900 IDS 3423 HP:0001761 Pes cavus OMIM:309900 IDS 3423 HP:0000457 Depressed nasal ridge OMIM:309900 IDS 3423 HP:0004389 Intestinal pseudo-obstruction OMIM:309900 IDS 3423 HP:0001744 Splenomegaly OMIM:309900 IDS 3423 HP:0001601 Laryngomalacia OMIM:309900 IDS 3423 HP:0001537 Umbilical hernia OMIM:309900 IDS 3423 HP:0000233 Thin vermilion border OMIM:309900 IDS 3423 HP:0001376 Limitation of joint mobility OMIM:309900 IDS 3423 HP:0008301 Dermatan sulfate excretion in urine OMIM:309900 IDS 3423 HP:0001419 X-linked recessive inheritance OMIM:309900 IDS 3423 HP:0005280 Depressed nasal bridge OMIM:309900 IDS 3423 HP:0000238 Hydrocephalus OMIM:309900 IDS 3423 HP:0002870 Obstructive sleep apnea OMIM:309900 IDS 3423 HP:0000508 Ptosis OMIM:309900 IDS 3423 HP:0007703 Abnormal retinal pigmentation OMIM:309900 IDS 3423 HP:0000157 Abnormality of the tongue OMIM:309900 IDS 3423 HP:0002777 Tracheal stenosis OMIM:309900 IDS 3423 HP:0001171 Split hand OMIM:309900 IDS 3423 HP:0002187 Intellectual disability, profound OMIM:309900 IDS 3423 HP:0003510 Severe short stature OMIM:309900 IDS 3423 HP:0002014 Diarrhea OMIM:309900 IDS 3423 HP:0001626 Abnormality of the cardiovascular system OMIM:309900 IDS 3423 HP:0000998 Hypertrichosis OMIM:309900 IDS 3423 HP:0001635 Congestive heart failure OMIM:309900 IDS 3423 HP:0002341 Cervical cord compression OMIM:309900 IDS 3423 HP:0001085 Papilledema OMIM:309900 IDS 3423 HP:0100543 Cognitive impairment OMIM:309900 IDS 3423 HP:0000164 Abnormality of the teeth OMIM:309900 IDS 3423 HP:0003502 Mild short stature OMIM:609195 B4GALNT1 2583 HP:0000639 Nystagmus OMIM:609195 B4GALNT1 2583 HP:0001347 Hyperreflexia OMIM:609195 B4GALNT1 2583 HP:0040083 Toe walking OMIM:609195 B4GALNT1 2583 HP:0000518 Cataract OMIM:609195 B4GALNT1 2583 HP:0001258 Spastic paraplegia OMIM:609195 B4GALNT1 2583 HP:0001761 Pes cavus OMIM:609195 B4GALNT1 2583 HP:0002120 Cerebral cortical atrophy OMIM:609195 B4GALNT1 2583 HP:0003487 Babinski sign OMIM:609195 B4GALNT1 2583 HP:0003677 Slow progression OMIM:609195 B4GALNT1 2583 HP:0003676 Progressive disorder OMIM:609195 B4GALNT1 2583 HP:0001310 Dysmetria OMIM:609195 B4GALNT1 2583 HP:0002061 Lower limb spasticity OMIM:609195 B4GALNT1 2583 HP:0000012 Urinary urgency OMIM:609195 B4GALNT1 2583 HP:0100660 Dyskinesia OMIM:609195 B4GALNT1 2583 HP:0001260 Dysarthria OMIM:609195 B4GALNT1 2583 HP:0002359 Frequent falls OMIM:609195 B4GALNT1 2583 HP:0002064 Spastic gait OMIM:609195 B4GALNT1 2583 HP:0000007 Autosomal recessive inheritance OMIM:609195 B4GALNT1 2583 HP:0000712 Emotional lability OMIM:609195 B4GALNT1 2583 HP:0002650 Scoliosis OMIM:609195 B4GALNT1 2583 HP:0002355 Difficulty walking OMIM:609195 B4GALNT1 2583 HP:0001256 Intellectual disability, mild OMIM:609195 B4GALNT1 2583 HP:0003693 Distal amyotrophy OMIM:609195 B4GALNT1 2583 HP:0001332 Dystonia OMIM:159950 ASAH1 427 HP:0007269 Spinal muscular atrophy OMIM:159950 ASAH1 427 HP:0002167 Neurological speech impairment OMIM:159950 ASAH1 427 HP:0002353 EEG abnormality OMIM:159950 ASAH1 427 HP:0002123 Generalized myoclonic seizures OMIM:159950 ASAH1 427 HP:0002359 Frequent falls OMIM:159950 ASAH1 427 HP:0100543 Cognitive impairment OMIM:159950 ASAH1 427 HP:0002398 Degeneration of anterior horn cells OMIM:159950 ASAH1 427 HP:0001308 Tongue fasciculations OMIM:159950 ASAH1 427 HP:0000007 Autosomal recessive inheritance OMIM:159950 ASAH1 427 HP:0001337 Tremor OMIM:159950 ASAH1 427 HP:0002205 Recurrent respiratory infections OMIM:159950 ASAH1 427 HP:0002650 Scoliosis OMIM:159950 ASAH1 427 HP:0003621 Juvenile onset OMIM:159950 ASAH1 427 HP:0008955 Progressive distal muscular atrophy OMIM:159950 ASAH1 427 HP:0001284 Areflexia OMIM:159950 ASAH1 427 HP:0001250 Seizures OMIM:159950 ASAH1 427 HP:0003676 Progressive disorder OMIM:159950 ASAH1 427 HP:0003457 EMG abnormality OMIM:159950 ASAH1 427 HP:0000006 Autosomal dominant inheritance OMIM:159950 ASAH1 427 HP:0003391 Gowers sign OMIM:159950 ASAH1 427 HP:0000726 Dementia OMIM:159950 ASAH1 427 HP:0001336 Myoclonus OMIM:159950 ASAH1 427 HP:0001288 Gait disturbance OMIM:159950 ASAH1 427 HP:0002355 Difficulty walking OMIM:159950 ASAH1 427 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:159950 ASAH1 427 HP:0010628 Facial palsy OMIM:610475 PDE11A 50940 HP:0001268 Mental deterioration OMIM:610475 PDE11A 50940 HP:0002808 Kyphosis OMIM:610475 PDE11A 50940 HP:0000006 Autosomal dominant inheritance OMIM:610475 PDE11A 50940 HP:0003466 Paradoxical increased cortisol secretion on dexamethasone suppression test OMIM:610475 PDE11A 50940 HP:0000713 Agitation OMIM:610475 PDE11A 50940 HP:0001579 Primary hypercorticolism OMIM:610475 PDE11A 50940 HP:0002920 Decreased circulating ACTH level OMIM:610475 PDE11A 50940 HP:0001956 Truncal obesity OMIM:610475 PDE11A 50940 HP:0000709 Psychosis OMIM:610475 PDE11A 50940 HP:0000978 Bruising susceptibility OMIM:610475 PDE11A 50940 HP:0003674 Onset OMIM:610475 PDE11A 50940 HP:0003118 Increased circulating cortisol level OMIM:610475 PDE11A 50940 HP:0000311 Round face OMIM:610475 PDE11A 50940 HP:0001065 Striae distensae OMIM:610475 PDE11A 50940 HP:0000739 Anxiety OMIM:610475 PDE11A 50940 HP:0001575 Mood changes OMIM:610475 PDE11A 50940 HP:0000938 Osteopenia OMIM:610475 PDE11A 50940 HP:0000939 Osteoporosis OMIM:610475 PDE11A 50940 HP:0001580 Pigmented micronodular adrenocortical disease OMIM:610475 PDE11A 50940 HP:0000716 Depression OMIM:610475 PDE11A 50940 HP:0000963 Thin skin OMIM:610475 PDE11A 50940 HP:0000822 Hypertension OMIM:601847 ABCB11 8647 HP:0000007 Autosomal recessive inheritance OMIM:601847 ABCB11 8647 HP:0001406 Intrahepatic cholestasis OMIM:601847 ABCB11 8647 HP:0003819 Death in childhood OMIM:601847 ABCB11 8647 HP:0001046 Intermittent jaundice OMIM:601847 ABCB11 8647 HP:0002630 Fat malabsorption OMIM:601847 ABCB11 8647 HP:0001508 Failure to thrive OMIM:601847 ABCB11 8647 HP:0002240 Hepatomegaly OMIM:601847 ABCB11 8647 HP:0001402 Hepatocellular carcinoma OMIM:601847 ABCB11 8647 HP:0001744 Splenomegaly OMIM:601847 ABCB11 8647 HP:0001394 Cirrhosis OMIM:601847 ABCB11 8647 HP:0002908 Conjugated hyperbilirubinemia OMIM:601847 ABCB11 8647 HP:0000989 Pruritus OMIM:601847 ABCB11 8647 HP:0003593 Infantile onset OMIM:601847 ABCB11 8647 HP:0004322 Short stature OMIM:601847 ABCB11 8647 HP:0002014 Diarrhea OMIM:601847 ABCB11 8647 HP:0003155 Elevated alkaline phosphatase OMIM:138000 GLMN 11146 HP:0000951 Abnormality of the skin OMIM:138000 GLMN 11146 HP:0001939 Abnormality of metabolism/homeostasis OMIM:138000 GLMN 11146 HP:0000006 Autosomal dominant inheritance ORPHANET:84090 FN1 2335 HP:0010741 Edema of the lower limbs ORPHANET:84090 FN1 2335 HP:0000790 Hematuria ORPHANET:84090 FN1 2335 HP:0100820 Glomerulopathy ORPHANET:84090 FN1 2335 HP:0000093 Proteinuria ORPHANET:84090 FN1 2335 HP:0002170 Intracranial hemorrhage ORPHANET:84090 FN1 2335 HP:0000822 Hypertension ORPHANET:84090 FN1 2335 HP:0000100 Nephrotic syndrome ORPHANET:84090 FN1 2335 HP:0000083 Renal insufficiency OMIM:613411 GRK1 6011 HP:0000007 Autosomal recessive inheritance OMIM:613411 GRK1 6011 HP:0007642 Congenital stationary night blindness OMIM:300087 XIST 7503 HP:0005268 Spontaneous abortion OMIM:611890 GLE1 2733 HP:0000007 Autosomal recessive inheritance OMIM:611890 GLE1 2733 HP:0003811 Neonatal death OMIM:611890 GLE1 2733 HP:0000470 Short neck OMIM:611890 GLE1 2733 HP:0003202 Skeletal muscle atrophy OMIM:611890 GLE1 2733 HP:0000369 Low-set ears OMIM:611890 GLE1 2733 HP:0001989 Fetal akinesia sequence OMIM:611890 GLE1 2733 HP:0002804 Arthrogryposis multiplex congenita OMIM:611890 GLE1 2733 HP:0007277 Paucity of anterior horn motor neurons OMIM:611890 GLE1 2733 HP:0006802 Abnormal anterior horn cell morphology OMIM:614432 NKX2-5 1482 HP:0001631 Defect in the atrial septum OMIM:614432 NKX2-5 1482 HP:0004415 Pulmonary artery stenosis OMIM:614432 NKX2-5 1482 HP:0001643 Patent ductus arteriosus OMIM:614432 NKX2-5 1482 HP:0001629 Ventricular septal defect OMIM:614432 NKX2-5 1482 HP:0000006 Autosomal dominant inheritance OMIM:251000 MUT 4594 HP:0000091 Abnormality of the renal tubule OMIM:251000 MUT 4594 HP:0000648 Optic atrophy OMIM:251000 MUT 4594 HP:0001874 Abnormality of neutrophils OMIM:251000 MUT 4594 HP:0008872 Feeding difficulties in infancy OMIM:251000 MUT 4594 HP:0002017 Nausea and vomiting OMIM:251000 MUT 4594 HP:0002167 Neurological speech impairment OMIM:251000 MUT 4594 HP:0012120 Methylmalonic aciduria OMIM:251000 MUT 4594 HP:0002093 Respiratory insufficiency OMIM:251000 MUT 4594 HP:0011695 Cerebellar hemorrhage OMIM:251000 MUT 4594 HP:0001744 Splenomegaly OMIM:251000 MUT 4594 HP:0001263 Global developmental delay OMIM:251000 MUT 4594 HP:0001259 Coma OMIM:251000 MUT 4594 HP:0100543 Cognitive impairment OMIM:251000 MUT 4594 HP:0001873 Thrombocytopenia OMIM:251000 MUT 4594 HP:0001903 Anemia OMIM:251000 MUT 4594 HP:0001970 Tubulointerstitial nephritis OMIM:251000 MUT 4594 HP:0001944 Dehydration OMIM:251000 MUT 4594 HP:0003774 Stage 5 chronic kidney disease OMIM:251000 MUT 4594 HP:0002188 Delayed CNS myelination OMIM:251000 MUT 4594 HP:0001252 Muscular hypotonia OMIM:251000 MUT 4594 HP:0002240 Hepatomegaly OMIM:251000 MUT 4594 HP:0002453 Abnormality of the globus pallidus OMIM:251000 MUT 4594 HP:0001987 Hyperammonemia OMIM:251000 MUT 4594 HP:0002013 Vomiting OMIM:251000 MUT 4594 HP:0001882 Leukopenia OMIM:251000 MUT 4594 HP:0004372 Reduced consciousness/confusion OMIM:251000 MUT 4594 HP:0002027 Abdominal pain OMIM:251000 MUT 4594 HP:0001508 Failure to thrive OMIM:251000 MUT 4594 HP:0002072 Chorea OMIM:251000 MUT 4594 HP:0001733 Pancreatitis OMIM:251000 MUT 4594 HP:0001254 Lethargy OMIM:251000 MUT 4594 HP:0004374 Hemiplegia/hemiparesis OMIM:251000 MUT 4594 HP:0002170 Intracranial hemorrhage OMIM:251000 MUT 4594 HP:0001638 Cardiomyopathy OMIM:251000 MUT 4594 HP:0002311 Incoordination OMIM:251000 MUT 4594 HP:0002039 Anorexia OMIM:251000 MUT 4594 HP:0100806 Sepsis OMIM:251000 MUT 4594 HP:0000083 Renal insufficiency OMIM:251000 MUT 4594 HP:0002912 Methylmalonic acidemia OMIM:251000 MUT 4594 HP:0001250 Seizures OMIM:251000 MUT 4594 HP:0001639 Hypertrophic cardiomyopathy OMIM:251000 MUT 4594 HP:0002154 Hyperglycinemia OMIM:251000 MUT 4594 HP:0005979 Metabolic ketoacidosis OMIM:251000 MUT 4594 HP:0000007 Autosomal recessive inheritance OMIM:611067 PLEKHG5 57449 HP:0007269 Spinal muscular atrophy OMIM:611067 PLEKHG5 57449 HP:0002355 Difficulty walking OMIM:611067 PLEKHG5 57449 HP:0003693 Distal amyotrophy OMIM:611067 PLEKHG5 57449 HP:0001284 Areflexia OMIM:611067 PLEKHG5 57449 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:611067 PLEKHG5 57449 HP:0009473 Joint contracture of the hand OMIM:611067 PLEKHG5 57449 HP:0002515 Waddling gait OMIM:611067 PLEKHG5 57449 HP:0003307 Hyperlordosis OMIM:611067 PLEKHG5 57449 HP:0003701 Proximal muscle weakness OMIM:611067 PLEKHG5 57449 HP:0003697 Scapuloperoneal amyotrophy OMIM:611067 PLEKHG5 57449 HP:0000007 Autosomal recessive inheritance OMIM:611067 PLEKHG5 57449 HP:0002650 Scoliosis OMIM:611067 PLEKHG5 57449 HP:0011463 Childhood onset OMIM:611067 PLEKHG5 57449 HP:0002460 Distal muscle weakness OMIM:611067 PLEKHG5 57449 HP:0001762 Talipes equinovarus OMIM:611067 PLEKHG5 57449 HP:0003551 Difficulty climbing stairs OMIM:611067 PLEKHG5 57449 HP:0002366 Abnormal lower motor neuron morphology OMIM:611067 PLEKHG5 57449 HP:0003445 EMG: neuropathic changes OMIM:611067 PLEKHG5 57449 HP:0003678 Rapidly progressive OMIM:612526 CAV1 857 HP:0000956 Acanthosis nigricans OMIM:612526 CAV1 857 HP:0001433 Hepatosplenomegaly OMIM:612526 CAV1 857 HP:0000007 Autosomal recessive inheritance OMIM:612526 CAV1 857 HP:0001007 Hirsutism OMIM:612526 CAV1 857 HP:0000819 Diabetes mellitus OMIM:612526 CAV1 857 HP:0002901 Hypocalcemia OMIM:612526 CAV1 857 HP:0009125 Lipodystrophy OMIM:612526 CAV1 857 HP:0001397 Hepatic steatosis OMIM:612526 CAV1 857 HP:0000855 Insulin resistance OMIM:612526 CAV1 857 HP:0003124 Hypercholesterolemia OMIM:612526 CAV1 857 HP:0003758 Reduced subcutaneous adipose tissue OMIM:612526 CAV1 857 HP:0002155 Hypertriglyceridemia OMIM:612526 CAV1 857 HP:0004322 Short stature OMIM:302060 TAZ 6901 HP:0004913 Intermittent lactic acidemia OMIM:302060 TAZ 6901 HP:0001644 Dilated cardiomyopathy OMIM:302060 TAZ 6901 HP:0001706 Endocardial fibroelastosis OMIM:302060 TAZ 6901 HP:0003756 Skeletal myopathy OMIM:302060 TAZ 6901 HP:0001639 Hypertrophic cardiomyopathy OMIM:302060 TAZ 6901 HP:0004306 Abnormality of the endocardium OMIM:302060 TAZ 6901 HP:0011675 Arrhythmia OMIM:302060 TAZ 6901 HP:0003546 Exercise intolerance OMIM:302060 TAZ 6901 HP:0001874 Abnormality of neutrophils OMIM:302060 TAZ 6901 HP:0001270 Motor delay OMIM:302060 TAZ 6901 HP:0008322 Abnormal mitochondrial morphology OMIM:302060 TAZ 6901 HP:0001635 Congestive heart failure OMIM:302060 TAZ 6901 HP:0001419 X-linked recessive inheritance OMIM:302060 TAZ 6901 HP:0001510 Growth delay OMIM:302060 TAZ 6901 HP:0001508 Failure to thrive OMIM:302060 TAZ 6901 HP:0000293 Full cheeks OMIM:302060 TAZ 6901 HP:0003011 Abnormality of the musculature OMIM:302060 TAZ 6901 HP:0000303 Mandibular prognathia OMIM:302060 TAZ 6901 HP:0001875 Neutropenia OMIM:302060 TAZ 6901 HP:0000311 Round face OMIM:302060 TAZ 6901 HP:0005437 Recurrent infections in infancy and early childhood OMIM:302060 TAZ 6901 HP:0000490 Deeply set eye OMIM:302060 TAZ 6901 HP:0012378 Fatigue OMIM:302060 TAZ 6901 HP:0001913 Granulocytopenia OMIM:302060 TAZ 6901 HP:0002058 Myopathic facies OMIM:302060 TAZ 6901 HP:0001762 Talipes equinovarus OMIM:302060 TAZ 6901 HP:0003535 3-Methylglutaconic aciduria OMIM:302060 TAZ 6901 HP:0000400 Macrotia OMIM:302060 TAZ 6901 HP:0001288 Gait disturbance OMIM:614844 ZNF423 23090 HP:0001320 Cerebellar vermis hypoplasia OMIM:614844 ZNF423 23090 HP:0000006 Autosomal dominant inheritance OMIM:614844 ZNF423 23090 HP:0001696 Situs inversus totalis OMIM:614844 ZNF423 23090 HP:0000007 Autosomal recessive inheritance OMIM:614844 ZNF423 23090 HP:0000546 Retinal degeneration OMIM:614844 ZNF423 23090 HP:0000090 Nephronophthisis OMIM:614844 ZNF423 23090 HP:0000113 Polycystic kidney dysplasia OMIM:614844 ZNF423 23090 HP:0003812 Phenotypic variability OMIM:266280 RECQL4 9401 HP:0002014 Diarrhea OMIM:266280 RECQL4 9401 HP:0001070 Mottled pigmentation OMIM:266280 RECQL4 9401 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:266280 RECQL4 9401 HP:0001373 Joint dislocation OMIM:266280 RECQL4 9401 HP:0004322 Short stature OMIM:266280 RECQL4 9401 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:266280 RECQL4 9401 HP:0000276 Long face OMIM:266280 RECQL4 9401 HP:0000581 Blepharophimosis OMIM:266280 RECQL4 9401 HP:0100242 Sarcoma OMIM:266280 RECQL4 9401 HP:0001511 Intrauterine growth retardation OMIM:266280 RECQL4 9401 HP:0000331 Short chin OMIM:266280 RECQL4 9401 HP:0000365 Hearing impairment OMIM:266280 RECQL4 9401 HP:0006498 Aplasia/Hypoplasia of the patella OMIM:266280 RECQL4 9401 HP:0000218 High palate OMIM:266280 RECQL4 9401 HP:0000007 Autosomal recessive inheritance OMIM:266280 RECQL4 9401 HP:0005198 Stiff interphalangeal joints OMIM:266280 RECQL4 9401 HP:0000175 Cleft palate OMIM:266280 RECQL4 9401 HP:0002665 Lymphoma OMIM:266280 RECQL4 9401 HP:0000417 Slender nose OMIM:266280 RECQL4 9401 HP:0006443 Patellar aplasia OMIM:266280 RECQL4 9401 HP:0001382 Joint hypermobility OMIM:266280 RECQL4 9401 HP:0003422 Vertebral segmentation defect OMIM:266280 RECQL4 9401 HP:0009777 Absent thumb OMIM:266280 RECQL4 9401 HP:0000957 Cafe-au-lait spot OMIM:266280 RECQL4 9401 HP:0000446 Narrow nasal bridge OMIM:266280 RECQL4 9401 HP:0002024 Malabsorption OMIM:144250 LPL 4023 HP:0000006 Autosomal dominant inheritance OMIM:144250 LPL 4023 HP:0001658 Myocardial infarction OMIM:144250 LPL 4023 HP:0008356 Combined hyperlipidemia OMIM:144250 LPL 4023 HP:0001114 Xanthelasma OMIM:277460 TTPA 7274 HP:0000649 Abnormality of vision evoked potentials OMIM:277460 TTPA 7274 HP:0001114 Xanthelasma OMIM:277460 TTPA 7274 HP:0001251 Ataxia OMIM:277460 TTPA 7274 HP:0002155 Hypertriglyceridemia OMIM:277460 TTPA 7274 HP:0003202 Skeletal muscle atrophy OMIM:277460 TTPA 7274 HP:0000505 Visual impairment OMIM:277460 TTPA 7274 HP:0001276 Hypertonia OMIM:277460 TTPA 7274 HP:0001639 Hypertrophic cardiomyopathy OMIM:277460 TTPA 7274 HP:0001288 Gait disturbance OMIM:277460 TTPA 7274 HP:0000662 Night blindness OMIM:277460 TTPA 7274 HP:0010874 Tendon xanthomatosis OMIM:277460 TTPA 7274 HP:0004374 Hemiplegia/hemiparesis OMIM:277460 TTPA 7274 HP:0000007 Autosomal recessive inheritance OMIM:277460 TTPA 7274 HP:0011675 Arrhythmia OMIM:277460 TTPA 7274 HP:0000819 Diabetes mellitus OMIM:277460 TTPA 7274 HP:0003141 Hyperbetalipoproteinemia OMIM:277460 TTPA 7274 HP:0002311 Incoordination OMIM:277460 TTPA 7274 HP:0000639 Nystagmus OMIM:277460 TTPA 7274 HP:0001337 Tremor OMIM:277460 TTPA 7274 HP:0003124 Hypercholesterolemia OMIM:277460 TTPA 7274 HP:0001324 Muscle weakness OMIM:277460 TTPA 7274 HP:0002167 Neurological speech impairment OMIM:277460 TTPA 7274 HP:0002650 Scoliosis OMIM:277460 TTPA 7274 HP:0007703 Abnormal retinal pigmentation OMIM:277460 TTPA 7274 HP:0001284 Areflexia OMIM:277460 TTPA 7274 HP:0002376 Developmental regression OMIM:277460 TTPA 7274 HP:0100513 Vitamin E deficiency OMIM:277460 TTPA 7274 HP:0009830 Peripheral neuropathy OMIM:277460 TTPA 7274 HP:0001761 Pes cavus OMIM:277460 TTPA 7274 HP:0007256 Abnormal pyramidal signs OMIM:616314 CHRNB1 1140 HP:0001252 Muscular hypotonia OMIM:616314 CHRNB1 1140 HP:0002093 Respiratory insufficiency OMIM:616314 CHRNB1 1140 HP:0001324 Muscle weakness OMIM:616314 CHRNB1 1140 HP:0011968 Feeding difficulties OMIM:270400 DHCR7 1717 HP:0000996 Facial capillary hemangioma OMIM:270400 DHCR7 1717 HP:0000252 Microcephaly OMIM:270400 DHCR7 1717 HP:0010880 Increased nuchal translucency OMIM:270400 DHCR7 1717 HP:0001623 Breech presentation OMIM:270400 DHCR7 1717 HP:0010297 Bifid tongue OMIM:270400 DHCR7 1717 HP:0001884 Talipes calcaneovalgus OMIM:270400 DHCR7 1717 HP:0000171 Microglossia OMIM:270400 DHCR7 1717 HP:0000501 Glaucoma OMIM:270400 DHCR7 1717 HP:0002579 Gastrointestinal dysmotility OMIM:270400 DHCR7 1717 HP:0000678 Dental crowding OMIM:270400 DHCR7 1717 HP:0000647 Sclerocornea OMIM:270400 DHCR7 1717 HP:0000316 Hypertelorism OMIM:270400 DHCR7 1717 HP:0001830 Postaxial foot polydactyly OMIM:270400 DHCR7 1717 HP:0001631 Defect in the atrial septum OMIM:270400 DHCR7 1717 HP:0000582 Upslanted palpebral fissure OMIM:270400 DHCR7 1717 HP:0001360 Holoprosencephaly OMIM:270400 DHCR7 1717 HP:0000463 Anteverted nares OMIM:270400 DHCR7 1717 HP:0000104 Renal agenesis OMIM:270400 DHCR7 1717 HP:0005280 Depressed nasal bridge OMIM:270400 DHCR7 1717 HP:0000717 Autism OMIM:270400 DHCR7 1717 HP:0001561 Polyhydramnios OMIM:270400 DHCR7 1717 HP:0009623 Proximal placement of thumb OMIM:270400 DHCR7 1717 HP:0000752 Hyperactivity OMIM:270400 DHCR7 1717 HP:0000826 Precocious puberty OMIM:270400 DHCR7 1717 HP:0001511 Intrauterine growth retardation OMIM:270400 DHCR7 1717 HP:0007333 Hypoplasia of the frontal lobes OMIM:270400 DHCR7 1717 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:270400 DHCR7 1717 HP:0001162 Postaxial hand polydactyly OMIM:270400 DHCR7 1717 HP:0004691 2-3 toe syndactyly OMIM:270400 DHCR7 1717 HP:0008678 Renal hypoplasia/aplasia OMIM:270400 DHCR7 1717 HP:0000499 Abnormality of the eyelashes OMIM:270400 DHCR7 1717 HP:0000639 Nystagmus OMIM:270400 DHCR7 1717 HP:0009778 Short thumb OMIM:270400 DHCR7 1717 HP:0003272 Abnormality of the hip bone OMIM:270400 DHCR7 1717 HP:0000508 Ptosis OMIM:270400 DHCR7 1717 HP:0007018 Attention deficit hyperactivity disorder OMIM:270400 DHCR7 1717 HP:0002251 Aganglionic megacolon OMIM:270400 DHCR7 1717 HP:0011069 Increased number of teeth OMIM:270400 DHCR7 1717 HP:0000518 Cataract OMIM:270400 DHCR7 1717 HP:0000648 Optic atrophy OMIM:270400 DHCR7 1717 HP:0000368 Low-set, posteriorly rotated ears OMIM:270400 DHCR7 1717 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:270400 DHCR7 1717 HP:0001153 Septate vagina OMIM:270400 DHCR7 1717 HP:0006482 Abnormality of dental morphology OMIM:270400 DHCR7 1717 HP:0009804 Reduced number of teeth OMIM:270400 DHCR7 1717 HP:0002827 Hip dislocation OMIM:270400 DHCR7 1717 HP:0000742 Self-mutilation OMIM:270400 DHCR7 1717 HP:0010295 Aplasia/Hypoplasia of the tongue OMIM:270400 DHCR7 1717 HP:0001680 Coarctation of aorta OMIM:270400 DHCR7 1717 HP:0002101 Abnormal lung lobation OMIM:270400 DHCR7 1717 HP:0001156 Brachydactyly syndrome OMIM:270400 DHCR7 1717 HP:0004322 Short stature OMIM:270400 DHCR7 1717 HP:0000046 Scrotal hypoplasia OMIM:270400 DHCR7 1717 HP:0000520 Proptosis OMIM:270400 DHCR7 1717 HP:0000055 Abnormality of female external genitalia OMIM:270400 DHCR7 1717 HP:0000341 Narrow forehead OMIM:270400 DHCR7 1717 HP:0000062 Ambiguous genitalia OMIM:270400 DHCR7 1717 HP:0000347 Micrognathia OMIM:270400 DHCR7 1717 HP:0000453 Choanal atresia OMIM:270400 DHCR7 1717 HP:0000028 Cryptorchidism OMIM:270400 DHCR7 1717 HP:0001629 Ventricular septal defect OMIM:270400 DHCR7 1717 HP:0000007 Autosomal recessive inheritance OMIM:270400 DHCR7 1717 HP:0000470 Short neck OMIM:270400 DHCR7 1717 HP:0001831 Short toe OMIM:270400 DHCR7 1717 HP:0100716 Self-injurious behavior OMIM:270400 DHCR7 1717 HP:0001622 Premature birth OMIM:270400 DHCR7 1717 HP:0001643 Patent ductus arteriosus OMIM:270400 DHCR7 1717 HP:0000107 Renal cyst OMIM:270400 DHCR7 1717 HP:0006288 Advanced eruption of teeth OMIM:270400 DHCR7 1717 HP:0000403 Recurrent otitis media OMIM:270400 DHCR7 1717 HP:0001765 Hammertoe OMIM:270400 DHCR7 1717 HP:0000212 Gingival overgrowth OMIM:270400 DHCR7 1717 HP:0004372 Reduced consciousness/confusion OMIM:270400 DHCR7 1717 HP:0002079 Hypoplasia of the corpus callosum OMIM:270400 DHCR7 1717 HP:0001250 Seizures OMIM:270400 DHCR7 1717 HP:0000365 Hearing impairment OMIM:270400 DHCR7 1717 HP:0000407 Sensorineural hearing impairment OMIM:270400 DHCR7 1717 HP:0000154 Wide mouth OMIM:270400 DHCR7 1717 HP:0000047 Hypospadias OMIM:270400 DHCR7 1717 HP:0000175 Cleft palate OMIM:270400 DHCR7 1717 HP:0004404 Abnormality of the nipple OMIM:270400 DHCR7 1717 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:270400 DHCR7 1717 HP:0000089 Renal hypoplasia OMIM:270400 DHCR7 1717 HP:0000003 Multicystic kidney dysplasia OMIM:270400 DHCR7 1717 HP:0000343 Long philtrum OMIM:270400 DHCR7 1717 HP:0002983 Micromelia OMIM:270400 DHCR7 1717 HP:0002808 Kyphosis OMIM:270400 DHCR7 1717 HP:0002021 Pyloric stenosis OMIM:270400 DHCR7 1717 HP:0000069 Abnormality of the ureter OMIM:270400 DHCR7 1717 HP:0006979 Sleep-wake cycle disturbance OMIM:270400 DHCR7 1717 HP:0000682 Abnormality of dental enamel OMIM:270400 DHCR7 1717 HP:0007477 Abnormal dermatoglyphics OMIM:270400 DHCR7 1717 HP:0002089 Pulmonary hypoplasia OMIM:270400 DHCR7 1717 HP:0009465 Ulnar deviation of finger OMIM:270400 DHCR7 1717 HP:0002119 Ventriculomegaly OMIM:270400 DHCR7 1717 HP:0000126 Hydronephrosis OMIM:270400 DHCR7 1717 HP:0000965 Cutis marmorata OMIM:270400 DHCR7 1717 HP:0005599 Hypopigmentation of hair OMIM:270400 DHCR7 1717 HP:0001305 Dandy-Walker malformation OMIM:270400 DHCR7 1717 HP:0001290 Generalized hypotonia OMIM:270400 DHCR7 1717 HP:0001163 Abnormality of the metacarpal bones OMIM:270400 DHCR7 1717 HP:0008736 Hypoplasia of penis OMIM:270400 DHCR7 1717 HP:0010978 Abnormality of immune system physiology OMIM:270400 DHCR7 1717 HP:0001276 Hypertonia OMIM:270400 DHCR7 1717 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:270400 DHCR7 1717 HP:0000074 Ureteropelvic junction obstruction OMIM:270400 DHCR7 1717 HP:0007165 Periventricular gray matter heterotopia OMIM:270400 DHCR7 1717 HP:0000286 Epicanthus OMIM:270400 DHCR7 1717 HP:0000048 Bifid scrotum OMIM:270400 DHCR7 1717 HP:0100627 Displacement of the external urethral meatus OMIM:270400 DHCR7 1717 HP:0000187 Broad alveolar ridges OMIM:270400 DHCR7 1717 HP:0002566 Intestinal malrotation OMIM:270400 DHCR7 1717 HP:0003312 Abnormal form of the vertebral bodies OMIM:270400 DHCR7 1717 HP:0000813 Bicornuate uterus OMIM:270400 DHCR7 1717 HP:0007537 Severe photosensitivity OMIM:270400 DHCR7 1717 HP:0000431 Wide nasal bridge OMIM:270400 DHCR7 1717 HP:0000054 Micropenis OMIM:270400 DHCR7 1717 HP:0010569 Elevated 7-dehydrocholesterol OMIM:270400 DHCR7 1717 HP:0002611 Cholestatic liver disease OMIM:270400 DHCR7 1717 HP:0000776 Congenital diaphragmatic hernia OMIM:270400 DHCR7 1717 HP:0001171 Split hand OMIM:270400 DHCR7 1717 HP:0000494 Downslanted palpebral fissures OMIM:270400 DHCR7 1717 HP:0005264 Abnormality of the gallbladder OMIM:270400 DHCR7 1717 HP:0001558 Decreased fetal movement OMIM:270400 DHCR7 1717 HP:0000992 Cutaneous photosensitivity OMIM:270400 DHCR7 1717 HP:0002013 Vomiting OMIM:270400 DHCR7 1717 HP:0000612 Iris coloboma OMIM:270400 DHCR7 1717 HP:0001600 Abnormality of the larynx OMIM:270400 DHCR7 1717 HP:0000964 Eczema OMIM:270400 DHCR7 1717 HP:0001249 Intellectual disability OMIM:270400 DHCR7 1717 HP:0010655 Epiphyseal stippling OMIM:270400 DHCR7 1717 HP:0002650 Scoliosis OMIM:270400 DHCR7 1717 HP:0002019 Constipation OMIM:270400 DHCR7 1717 HP:0000486 Strabismus OMIM:270400 DHCR7 1717 HP:0000772 Abnormality of the ribs OMIM:270400 DHCR7 1717 HP:0000358 Posteriorly rotated ears OMIM:270400 DHCR7 1717 HP:0001674 Complete atrioventricular canal defect OMIM:270400 DHCR7 1717 HP:0001508 Failure to thrive OMIM:270400 DHCR7 1717 HP:0002020 Gastroesophageal reflux OMIM:270400 DHCR7 1717 HP:0000369 Low-set ears OMIM:270400 DHCR7 1717 HP:0100542 Abnormal localization of kidney OMIM:270400 DHCR7 1717 HP:0003119 Abnormality of lipid metabolism OMIM:270400 DHCR7 1717 HP:0002360 Sleep disturbance OMIM:270400 DHCR7 1717 HP:0001770 Toe syndactyly OMIM:270400 DHCR7 1717 HP:0002777 Tracheal stenosis OMIM:270400 DHCR7 1717 HP:0000718 Aggressive behavior OMIM:270400 DHCR7 1717 HP:0001845 Overlapping toe OMIM:270400 DHCR7 1717 HP:0001883 Talipes OMIM:270400 DHCR7 1717 HP:0001840 Metatarsus adductus OMIM:270400 DHCR7 1717 HP:0006101 Finger syndactyly OMIM:270400 DHCR7 1717 HP:0002033 Poor suck OMIM:270400 DHCR7 1717 HP:0000238 Hydrocephalus OMIM:270400 DHCR7 1717 HP:0030043 Hip Subluxation OMIM:270400 DHCR7 1717 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:270400 DHCR7 1717 HP:0001743 Abnormality of the spleen OMIM:270400 DHCR7 1717 HP:0001252 Muscular hypotonia OMIM:270400 DHCR7 1717 HP:0003146 Hypocholesterolemia OMIM:268220 PAX7 5081 HP:0006779 Alveolar rhabdomyosarcoma OMIM:268220 PAX7 5081 HP:0000007 Autosomal recessive inheritance OMIM:268220 FOXO1 2308 HP:0006779 Alveolar rhabdomyosarcoma OMIM:268220 FOXO1 2308 HP:0000007 Autosomal recessive inheritance OMIM:268220 PAX3 5077 HP:0006779 Alveolar rhabdomyosarcoma OMIM:268220 PAX3 5077 HP:0000007 Autosomal recessive inheritance OMIM:614896 CACNA1D 776 HP:0001662 Bradycardia OMIM:614896 CACNA1D 776 HP:0000365 Hearing impairment OMIM:614896 CACNA1D 776 HP:0000007 Autosomal recessive inheritance OMIM:614614 CEACAM16 388551 HP:0000006 Autosomal dominant inheritance OMIM:614614 CEACAM16 388551 HP:0000365 Hearing impairment OMIM:206200 TMPRSS6 164656 HP:0001891 Iron deficiency anemia OMIM:206200 TMPRSS6 164656 HP:0004840 Hypochromic microcytic anemia OMIM:206200 TMPRSS6 164656 HP:0000007 Autosomal recessive inheritance OMIM:136760 ALX3 257 HP:0000405 Conductive hearing impairment OMIM:136760 ALX3 257 HP:0000431 Wide nasal bridge OMIM:136760 ALX3 257 HP:0000327 Hypoplasia of the maxilla OMIM:136760 ALX3 257 HP:0000369 Low-set ears OMIM:136760 ALX3 257 HP:0001156 Brachydactyly syndrome OMIM:136760 ALX3 257 HP:0000384 Preauricular skin tag OMIM:136760 ALX3 257 HP:0007541 Frontal cutaneous lipoma OMIM:136760 ALX3 257 HP:0000589 Coloboma OMIM:136760 ALX3 257 HP:0001636 Tetralogy of Fallot OMIM:136760 ALX3 257 HP:0002000 Short columella OMIM:136760 ALX3 257 HP:0009473 Joint contracture of the hand OMIM:136760 ALX3 257 HP:0009466 Radial deviation of finger OMIM:136760 ALX3 257 HP:0000568 Microphthalmos OMIM:136760 ALX3 257 HP:0000455 Broad nasal tip OMIM:136760 ALX3 257 HP:0005258 Pectoral muscle hypoplasia/aplasia OMIM:136760 ALX3 257 HP:0000316 Hypertelorism OMIM:136760 ALX3 257 HP:0000161 Median cleft lip OMIM:136760 ALX3 257 HP:0006931 Lipoma of corpus callosum OMIM:136760 ALX3 257 HP:0009099 Median cleft palate OMIM:136760 ALX3 257 HP:0004423 Cranium bifidum occultum OMIM:136760 ALX3 257 HP:0000456 Bifid nasal tip OMIM:136760 ALX3 257 HP:0000518 Cataract OMIM:136760 ALX3 257 HP:0000508 Ptosis OMIM:136760 ALX3 257 HP:0001162 Postaxial hand polydactyly OMIM:136760 ALX3 257 HP:0030084 Clinodactyly OMIM:136760 ALX3 257 HP:0001249 Intellectual disability OMIM:136760 ALX3 257 HP:0003745 Sporadic OMIM:136760 ALX3 257 HP:0001274 Agenesis of corpus callosum OMIM:136760 ALX3 257 HP:0006992 Anterior basal encephalocele OMIM:136760 ALX3 257 HP:0001566 Widely-spaced maxillary central incisors OMIM:136760 ALX3 257 HP:0002738 Hypoplastic frontal sinuses OMIM:136760 ALX3 257 HP:0012385 Camptodactyly OMIM:136760 ALX3 257 HP:0000349 Widow's peak OMIM:136760 ALX3 257 HP:0000286 Epicanthus ORPHANET:231183 TRNS2 4575 HP:0002311 Incoordination ORPHANET:231183 TRNS2 4575 HP:0000483 Astigmatism ORPHANET:231183 TRNS2 4575 HP:0001123 Visual field defect ORPHANET:231183 TRNS2 4575 HP:0000407 Sensorineural hearing impairment ORPHANET:231183 TRNS2 4575 HP:0000540 Hypermetropia ORPHANET:231183 TRNS2 4575 HP:0000738 Hallucinations ORPHANET:231183 TRNS2 4575 HP:0000518 Cataract ORPHANET:231183 TRNS2 4575 HP:0007703 Abnormal retinal pigmentation ORPHANET:231183 TRNS2 4575 HP:0000512 Abnormal electroretinogram ORPHANET:231183 TRNS2 4575 HP:0000662 Night blindness ORPHANET:231183 TRNS2 4575 HP:0000505 Visual impairment ORPHANET:231183 HARS 3035 HP:0002311 Incoordination ORPHANET:231183 HARS 3035 HP:0000483 Astigmatism ORPHANET:231183 HARS 3035 HP:0001123 Visual field defect ORPHANET:231183 HARS 3035 HP:0000407 Sensorineural hearing impairment ORPHANET:231183 HARS 3035 HP:0000540 Hypermetropia ORPHANET:231183 HARS 3035 HP:0000738 Hallucinations ORPHANET:231183 HARS 3035 HP:0000518 Cataract ORPHANET:231183 HARS 3035 HP:0007703 Abnormal retinal pigmentation ORPHANET:231183 HARS 3035 HP:0000512 Abnormal electroretinogram ORPHANET:231183 HARS 3035 HP:0000662 Night blindness ORPHANET:231183 HARS 3035 HP:0000505 Visual impairment ORPHANET:231183 CLRN1 7401 HP:0002311 Incoordination ORPHANET:231183 CLRN1 7401 HP:0000483 Astigmatism ORPHANET:231183 CLRN1 7401 HP:0001123 Visual field defect ORPHANET:231183 CLRN1 7401 HP:0000407 Sensorineural hearing impairment ORPHANET:231183 CLRN1 7401 HP:0000540 Hypermetropia ORPHANET:231183 CLRN1 7401 HP:0000738 Hallucinations ORPHANET:231183 CLRN1 7401 HP:0000518 Cataract ORPHANET:231183 CLRN1 7401 HP:0007703 Abnormal retinal pigmentation ORPHANET:231183 CLRN1 7401 HP:0000512 Abnormal electroretinogram ORPHANET:231183 CLRN1 7401 HP:0000662 Night blindness ORPHANET:231183 CLRN1 7401 HP:0000505 Visual impairment OMIM:231050 ADAMTSL2 9719 HP:0001620 High pitched voice OMIM:231050 ADAMTSL2 9719 HP:0002680 J-shaped sella turcica OMIM:231050 ADAMTSL2 9719 HP:0000582 Upslanted palpebral fissure OMIM:231050 ADAMTSL2 9719 HP:0000391 Thickened helices OMIM:231050 ADAMTSL2 9719 HP:0001072 Thickened skin OMIM:231050 ADAMTSL2 9719 HP:0001718 Mitral stenosis OMIM:231050 ADAMTSL2 9719 HP:0004322 Short stature OMIM:231050 ADAMTSL2 9719 HP:0002777 Tracheal stenosis OMIM:231050 ADAMTSL2 9719 HP:0010446 Tricuspid stenosis OMIM:231050 ADAMTSL2 9719 HP:0002240 Hepatomegaly OMIM:231050 ADAMTSL2 9719 HP:0003090 Hypoplasia of the capital femoral epiphysis OMIM:231050 ADAMTSL2 9719 HP:0004279 Short palm OMIM:231050 ADAMTSL2 9719 HP:0001635 Congestive heart failure OMIM:231050 ADAMTSL2 9719 HP:0002673 Coxa valga OMIM:231050 ADAMTSL2 9719 HP:0000463 Anteverted nares OMIM:231050 ADAMTSL2 9719 HP:0001650 Aortic valve stenosis OMIM:231050 ADAMTSL2 9719 HP:0001792 Small nail OMIM:231050 ADAMTSL2 9719 HP:0001250 Seizures OMIM:231050 ADAMTSL2 9719 HP:0000007 Autosomal recessive inheritance OMIM:231050 ADAMTSL2 9719 HP:0100679 Lack of skin elasticity OMIM:231050 ADAMTSL2 9719 HP:0001387 Joint stiffness OMIM:231050 ADAMTSL2 9719 HP:0000938 Osteopenia OMIM:231050 ADAMTSL2 9719 HP:0100490 Camptodactyly of finger OMIM:231050 ADAMTSL2 9719 HP:0005041 Irregular capital femoral epiphysis OMIM:231050 ADAMTSL2 9719 HP:0001263 Global developmental delay OMIM:231050 ADAMTSL2 9719 HP:0003026 Short long bone OMIM:231050 ADAMTSL2 9719 HP:0000767 Pectus excavatum OMIM:231050 ADAMTSL2 9719 HP:0000343 Long philtrum OMIM:231050 ADAMTSL2 9719 HP:0000311 Round face OMIM:231050 ADAMTSL2 9719 HP:0001773 Short foot OMIM:231050 ADAMTSL2 9719 HP:0001239 Wrist flexion contracture OMIM:231050 ADAMTSL2 9719 HP:0003196 Short nose OMIM:231050 ADAMTSL2 9719 HP:0000319 Smooth philtrum OMIM:231050 ADAMTSL2 9719 HP:0000154 Wide mouth OMIM:231050 ADAMTSL2 9719 HP:0006161 Short metacarpals with rounded proximal ends OMIM:116400 WFS1 7466 HP:0100018 Nuclear cataract OMIM:116400 WFS1 7466 HP:0000006 Autosomal dominant inheritance OMIM:116400 WFS1 7466 HP:0000519 Congenital cataract OMIM:309510 ARX 170302 HP:0001260 Dysarthria OMIM:309510 ARX 170302 HP:0004373 Focal dystonia OMIM:309510 ARX 170302 HP:0000325 Triangular face OMIM:309510 ARX 170302 HP:0002353 EEG abnormality OMIM:309510 ARX 170302 HP:0002451 Limb dystonia OMIM:309510 ARX 170302 HP:0001250 Seizures OMIM:309510 ARX 170302 HP:0001419 X-linked recessive inheritance OMIM:309510 ARX 170302 HP:0001249 Intellectual disability OMIM:309510 ARX 170302 HP:0000750 Delayed speech and language development OMIM:309510 ARX 170302 HP:0002061 Lower limb spasticity OMIM:309510 ARX 170302 HP:0001371 Flexion contracture OMIM:614302 TMEM43 79188 HP:0005110 Atrial fibrillation OMIM:614302 TMEM43 79188 HP:0003581 Adult onset OMIM:614302 TMEM43 79188 HP:0003701 Proximal muscle weakness OMIM:614302 TMEM43 79188 HP:0000467 Neck muscle weakness OMIM:614302 TMEM43 79188 HP:0001662 Bradycardia OMIM:614302 TMEM43 79188 HP:0000006 Autosomal dominant inheritance OMIM:614302 TMEM43 79188 HP:0007126 Proximal amyotrophy OMIM:614302 TMEM43 79188 HP:0003677 Slow progression OMIM:614302 TMEM43 79188 HP:0003560 Muscular dystrophy OMIM:611603 TUBA1A 7846 HP:0002510 Spastic tetraplegia OMIM:611603 TUBA1A 7846 HP:0001274 Agenesis of corpus callosum OMIM:611603 TUBA1A 7846 HP:0001252 Muscular hypotonia OMIM:611603 TUBA1A 7846 HP:0002079 Hypoplasia of the corpus callosum OMIM:611603 TUBA1A 7846 HP:0001251 Ataxia OMIM:611603 TUBA1A 7846 HP:0001270 Motor delay OMIM:611603 TUBA1A 7846 HP:0002119 Ventriculomegaly OMIM:611603 TUBA1A 7846 HP:0010864 Intellectual disability, severe OMIM:611603 TUBA1A 7846 HP:0002365 Hypoplasia of the brainstem OMIM:611603 TUBA1A 7846 HP:0001302 Pachygyria OMIM:611603 TUBA1A 7846 HP:0002282 Heterotopia OMIM:611603 TUBA1A 7846 HP:0001339 Lissencephaly OMIM:611603 TUBA1A 7846 HP:0001250 Seizures OMIM:611603 TUBA1A 7846 HP:0000252 Microcephaly OMIM:611603 TUBA1A 7846 HP:0001320 Cerebellar vermis hypoplasia OMIM:611603 TUBA1A 7846 HP:0002126 Polymicrogyria OMIM:611603 TUBA1A 7846 HP:0000006 Autosomal dominant inheritance OMIM:310400 MTM1 4534 HP:0001315 Reduced tendon reflexes OMIM:310400 MTM1 4534 HP:0000256 Macrocephaly OMIM:310400 MTM1 4534 HP:0002650 Scoliosis OMIM:310400 MTM1 4534 HP:0000238 Hydrocephalus OMIM:310400 MTM1 4534 HP:0001284 Areflexia OMIM:310400 MTM1 4534 HP:0003324 Generalized muscle weakness OMIM:310400 MTM1 4534 HP:0002375 Hypokinesia OMIM:310400 MTM1 4534 HP:0000276 Long face OMIM:310400 MTM1 4534 HP:0001561 Polyhydramnios OMIM:310400 MTM1 4534 HP:0001252 Muscular hypotonia OMIM:310400 MTM1 4534 HP:0001048 Cavernous hemangioma OMIM:310400 MTM1 4534 HP:0001410 Decreased liver function OMIM:310400 MTM1 4534 HP:0006829 Severe muscular hypotonia OMIM:310400 MTM1 4534 HP:0000298 Mask-like facies OMIM:310400 MTM1 4534 HP:0000275 Narrow face OMIM:310400 MTM1 4534 HP:0000218 High palate OMIM:310400 MTM1 4534 HP:0009110 Diaphragmatic eventration OMIM:310400 MTM1 4534 HP:0001371 Flexion contracture OMIM:310400 MTM1 4534 HP:0011675 Arrhythmia OMIM:310400 MTM1 4534 HP:0002643 Neonatal respiratory distress OMIM:310400 MTM1 4534 HP:0001558 Decreased fetal movement OMIM:310400 MTM1 4534 HP:0000508 Ptosis OMIM:310400 MTM1 4534 HP:0002093 Respiratory insufficiency OMIM:310400 MTM1 4534 HP:0010628 Facial palsy OMIM:310400 MTM1 4534 HP:0001419 X-linked recessive inheritance OMIM:310400 MTM1 4534 HP:0000544 External ophthalmoplegia OMIM:310400 MTM1 4534 HP:0003457 EMG abnormality OMIM:310400 MTM1 4534 HP:0000028 Cryptorchidism OMIM:310400 MTM1 4534 HP:0011308 Slender toe OMIM:310400 MTM1 4534 HP:0000597 Ophthalmoparesis OMIM:310400 MTM1 4534 HP:0001250 Seizures OMIM:310400 MTM1 4534 HP:0002021 Pyloric stenosis OMIM:310400 MTM1 4534 HP:0000467 Neck muscle weakness OMIM:310400 MTM1 4534 HP:0003202 Skeletal muscle atrophy OMIM:310400 MTM1 4534 HP:0001288 Gait disturbance OMIM:310400 MTM1 4534 HP:0003517 Birth length greater than 97th percentile OMIM:310400 MTM1 4534 HP:0004887 Respiratory failure requiring assisted ventilation OMIM:310400 MTM1 4534 HP:0001166 Arachnodactyly OMIM:606937 ZNF592 9640 HP:0004322 Short stature OMIM:606937 ZNF592 9640 HP:0000565 Esotropia OMIM:606937 ZNF592 9640 HP:0003487 Babinski sign OMIM:606937 ZNF592 9640 HP:0001251 Ataxia OMIM:606937 ZNF592 9640 HP:0003577 Congenital onset OMIM:606937 ZNF592 9640 HP:0001272 Cerebellar atrophy OMIM:606937 ZNF592 9640 HP:0003680 Nonprogressive disorder OMIM:606937 ZNF592 9640 HP:0001371 Flexion contracture OMIM:606937 ZNF592 9640 HP:0001332 Dystonia OMIM:606937 ZNF592 9640 HP:0000252 Microcephaly OMIM:606937 ZNF592 9640 HP:0000007 Autosomal recessive inheritance OMIM:606937 ZNF592 9640 HP:0001263 Global developmental delay OMIM:606937 ZNF592 9640 HP:0002198 Dilated fourth ventricle OMIM:606937 ZNF592 9640 HP:0000657 Oculomotor apraxia OMIM:606937 ZNF592 9640 HP:0002169 Clonus OMIM:606937 ZNF592 9640 HP:0002167 Neurological speech impairment OMIM:606937 ZNF592 9640 HP:0002607 Bowel incontinence OMIM:606937 ZNF592 9640 HP:0011448 Ankle clonus OMIM:606937 ZNF592 9640 HP:0004325 Decreased body weight OMIM:606937 ZNF592 9640 HP:0001257 Spasticity OMIM:606937 ZNF592 9640 HP:0010864 Intellectual disability, severe OMIM:606937 ZNF592 9640 HP:0000951 Abnormality of the skin OMIM:606937 ZNF592 9640 HP:0000648 Optic atrophy OMIM:606937 ZNF592 9640 HP:0000020 Urinary incontinence OMIM:606937 ZNF592 9640 HP:0006887 Intellectual disability, progressive OMIM:613724 SCP2 6342 HP:0002080 Intention tremor OMIM:613724 SCP2 6342 HP:0000815 Hypergonadotropic hypogonadism OMIM:613724 SCP2 6342 HP:0002346 Head tremor OMIM:613724 SCP2 6342 HP:0000027 Azoospermia OMIM:613724 SCP2 6342 HP:0004409 Hyposmia OMIM:613724 SCP2 6342 HP:0009830 Peripheral neuropathy OMIM:613724 SCP2 6342 HP:0002352 Leukoencephalopathy OMIM:613724 SCP2 6342 HP:0002450 Abnormal motor neuron morphology OMIM:613724 SCP2 6342 HP:0000473 Torticollis OMIM:613724 SCP2 6342 HP:0000570 Abnormality of saccadic eye movements OMIM:613724 SCP2 6342 HP:0010663 Abnormality of thalamus morphology OMIM:602080 SQSTM1 8878 HP:0003080 Hydroxyprolinuria OMIM:602080 SQSTM1 8878 HP:0002512 Brain stem compression OMIM:602080 SQSTM1 8878 HP:0003155 Elevated alkaline phosphatase OMIM:602080 SQSTM1 8878 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:602080 SQSTM1 8878 HP:0008513 Bilateral conductive hearing impairment OMIM:602080 SQSTM1 8878 HP:0002659 Increased susceptibility to fractures OMIM:602080 SQSTM1 8878 HP:0001425 Heterogeneous OMIM:602080 SQSTM1 8878 HP:0002385 Paraparesis OMIM:602080 SQSTM1 8878 HP:0002953 Vertebral compression fractures OMIM:602080 SQSTM1 8878 HP:0006824 Cranial nerve paralysis OMIM:602080 SQSTM1 8878 HP:0003084 Fractures of the long bones OMIM:602080 SQSTM1 8878 HP:0000006 Autosomal dominant inheritance OMIM:602080 SQSTM1 8878 HP:0002273 Tetraparesis OMIM:602080 SQSTM1 8878 HP:0002423 Long-tract signs OMIM:602080 SQSTM1 8878 HP:0002653 Bone pain OMIM:602080 SQSTM1 8878 HP:0002797 Osteolysis OMIM:602080 TNFRSF11A 8792 HP:0003080 Hydroxyprolinuria OMIM:602080 TNFRSF11A 8792 HP:0002512 Brain stem compression OMIM:602080 TNFRSF11A 8792 HP:0003155 Elevated alkaline phosphatase OMIM:602080 TNFRSF11A 8792 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:602080 TNFRSF11A 8792 HP:0008513 Bilateral conductive hearing impairment OMIM:602080 TNFRSF11A 8792 HP:0002659 Increased susceptibility to fractures OMIM:602080 TNFRSF11A 8792 HP:0001425 Heterogeneous OMIM:602080 TNFRSF11A 8792 HP:0002385 Paraparesis OMIM:602080 TNFRSF11A 8792 HP:0002953 Vertebral compression fractures OMIM:602080 TNFRSF11A 8792 HP:0006824 Cranial nerve paralysis OMIM:602080 TNFRSF11A 8792 HP:0003084 Fractures of the long bones OMIM:602080 TNFRSF11A 8792 HP:0000006 Autosomal dominant inheritance OMIM:602080 TNFRSF11A 8792 HP:0002273 Tetraparesis OMIM:602080 TNFRSF11A 8792 HP:0002423 Long-tract signs OMIM:602080 TNFRSF11A 8792 HP:0002653 Bone pain OMIM:602080 TNFRSF11A 8792 HP:0002797 Osteolysis ORPHANET:3250 NOG 9241 HP:0001156 Brachydactyly syndrome ORPHANET:3250 NOG 9241 HP:0100490 Camptodactyly of finger ORPHANET:3250 NOG 9241 HP:0004209 Clinodactyly of the 5th finger ORPHANET:3250 NOG 9241 HP:0005048 Synostosis of carpal bones ORPHANET:3250 NOG 9241 HP:0001163 Abnormality of the metacarpal bones ORPHANET:3250 NOG 9241 HP:0009773 Symphalangism affecting the phalanges of the hand ORPHANET:3250 NOG 9241 HP:0000486 Strabismus ORPHANET:3250 NOG 9241 HP:0008368 Tarsal synostosis ORPHANET:3250 NOG 9241 HP:0006101 Finger syndactyly ORPHANET:3250 NOG 9241 HP:0003042 Elbow dislocation ORPHANET:3250 NOG 9241 HP:0000407 Sensorineural hearing impairment ORPHANET:3250 NOG 9241 HP:0003041 Humeroradial synostosis ORPHANET:3250 GDF5 8200 HP:0001156 Brachydactyly syndrome ORPHANET:3250 GDF5 8200 HP:0100490 Camptodactyly of finger ORPHANET:3250 GDF5 8200 HP:0004209 Clinodactyly of the 5th finger ORPHANET:3250 GDF5 8200 HP:0005048 Synostosis of carpal bones ORPHANET:3250 GDF5 8200 HP:0001163 Abnormality of the metacarpal bones ORPHANET:3250 GDF5 8200 HP:0009773 Symphalangism affecting the phalanges of the hand ORPHANET:3250 GDF5 8200 HP:0000486 Strabismus ORPHANET:3250 GDF5 8200 HP:0008368 Tarsal synostosis ORPHANET:3250 GDF5 8200 HP:0006101 Finger syndactyly ORPHANET:3250 GDF5 8200 HP:0003042 Elbow dislocation ORPHANET:3250 GDF5 8200 HP:0000407 Sensorineural hearing impairment ORPHANET:3250 GDF5 8200 HP:0003041 Humeroradial synostosis OMIM:615342 SMAD9 4093 HP:0002092 Pulmonary hypertension OMIM:615342 SMAD9 4093 HP:0003676 Progressive disorder OMIM:615342 SMAD9 4093 HP:0003829 Incomplete penetrance OMIM:615342 SMAD9 4093 HP:0005317 Increased pulmonary vascular resistance OMIM:615342 SMAD9 4093 HP:0000006 Autosomal dominant inheritance OMIM:612651 ICK 22858 HP:0001852 Sandal gap OMIM:612651 ICK 22858 HP:0000238 Hydrocephalus OMIM:612651 ICK 22858 HP:0002119 Ventriculomegaly OMIM:612651 ICK 22858 HP:0000054 Micropenis OMIM:612651 ICK 22858 HP:0000431 Wide nasal bridge OMIM:612651 ICK 22858 HP:0000347 Micrognathia OMIM:612651 ICK 22858 HP:0000062 Ambiguous genitalia OMIM:612651 ICK 22858 HP:0001156 Brachydactyly syndrome OMIM:612651 ICK 22858 HP:0002983 Micromelia OMIM:612651 ICK 22858 HP:0001159 Syndactyly OMIM:612651 ICK 22858 HP:0000007 Autosomal recessive inheritance OMIM:612651 ICK 22858 HP:0001193 Ulnar deviation of the hand or of fingers of the hand OMIM:612651 ICK 22858 HP:0000272 Malar flattening OMIM:612651 ICK 22858 HP:0000175 Cleft palate OMIM:612651 ICK 22858 HP:0006610 Wide intermamillary distance OMIM:612651 ICK 22858 HP:0030260 Microphallus OMIM:612651 ICK 22858 HP:0001360 Holoprosencephaly OMIM:612651 ICK 22858 HP:0001552 Barrel-shaped chest OMIM:612651 ICK 22858 HP:0011800 Midface retrusion OMIM:612651 ICK 22858 HP:0000437 Depressed nasal tip OMIM:612651 ICK 22858 HP:0100259 Postaxial polydactyly OMIM:612651 ICK 22858 HP:0000204 Cleft upper lip OMIM:612651 ICK 22858 HP:0000047 Hypospadias OMIM:612651 ICK 22858 HP:0000046 Scrotal hypoplasia OMIM:612651 ICK 22858 HP:0000028 Cryptorchidism OMIM:612651 ICK 22858 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:612651 ICK 22858 HP:0000835 Adrenal hypoplasia OMIM:612651 ICK 22858 HP:0000377 Abnormality of the pinna OMIM:612651 ICK 22858 HP:0000369 Low-set ears OMIM:612651 ICK 22858 HP:0000914 Shield chest OMIM:300645 CYBB 1536 HP:0001419 X-linked recessive inheritance OMIM:300645 CYBB 1536 HP:0011274 Recurrent mycobacterial infections OMIM:300645 CYBB 1536 HP:0005428 Severe recurrent varicella OMIM:605258 AICDA 57379 HP:0002959 Impaired Ig class switch recombination OMIM:605258 AICDA 57379 HP:0004798 Recurrent infection of the gastrointestinal tract OMIM:605258 AICDA 57379 HP:0002718 Recurrent bacterial infections OMIM:605258 AICDA 57379 HP:0002716 Lymphadenopathy OMIM:605258 AICDA 57379 HP:0002720 IgA deficiency OMIM:605258 AICDA 57379 HP:0000007 Autosomal recessive inheritance OMIM:605258 AICDA 57379 HP:0200117 Recurrent upper and lower respiratory tract infections OMIM:605258 AICDA 57379 HP:0004315 IgG deficiency OMIM:605258 AICDA 57379 HP:0002205 Recurrent respiratory infections OMIM:605258 AICDA 57379 HP:0002721 Immunodeficiency OMIM:603233 GNAS 2778 HP:0002901 Hypocalcemia OMIM:603233 GNAS 2778 HP:0003165 Elevated circulating parathyroid hormone (PTH) level OMIM:603233 GNAS 2778 HP:0000852 Pseudohypoparathyroidism OMIM:603233 GNAS 2778 HP:0003456 Low urinary cyclic AMP response to PTH administration OMIM:603233 GNAS 2778 HP:0003745 Sporadic OMIM:603233 GNAS 2778 HP:0001513 Obesity OMIM:603233 GNAS 2778 HP:0000006 Autosomal dominant inheritance OMIM:603233 GNAS 2778 HP:0010049 Short metacarpal OMIM:603233 GNAS 2778 HP:0002905 Hyperphosphatemia OMIM:603233 GNAS 2778 HP:0001156 Brachydactyly syndrome OMIM:603233 GNAS-AS1 149775 HP:0002901 Hypocalcemia OMIM:603233 GNAS-AS1 149775 HP:0003165 Elevated circulating parathyroid hormone (PTH) level OMIM:603233 GNAS-AS1 149775 HP:0000852 Pseudohypoparathyroidism OMIM:603233 GNAS-AS1 149775 HP:0003456 Low urinary cyclic AMP response to PTH administration OMIM:603233 GNAS-AS1 149775 HP:0003745 Sporadic OMIM:603233 GNAS-AS1 149775 HP:0001513 Obesity OMIM:603233 GNAS-AS1 149775 HP:0000006 Autosomal dominant inheritance OMIM:603233 GNAS-AS1 149775 HP:0010049 Short metacarpal OMIM:603233 GNAS-AS1 149775 HP:0002905 Hyperphosphatemia OMIM:603233 GNAS-AS1 149775 HP:0001156 Brachydactyly syndrome OMIM:603233 STX16 8675 HP:0002901 Hypocalcemia OMIM:603233 STX16 8675 HP:0003165 Elevated circulating parathyroid hormone (PTH) level OMIM:603233 STX16 8675 HP:0000852 Pseudohypoparathyroidism OMIM:603233 STX16 8675 HP:0003456 Low urinary cyclic AMP response to PTH administration OMIM:603233 STX16 8675 HP:0003745 Sporadic OMIM:603233 STX16 8675 HP:0001513 Obesity OMIM:603233 STX16 8675 HP:0000006 Autosomal dominant inheritance OMIM:603233 STX16 8675 HP:0010049 Short metacarpal OMIM:603233 STX16 8675 HP:0002905 Hyperphosphatemia OMIM:603233 STX16 8675 HP:0001156 Brachydactyly syndrome ORPHANET:1848 ITGA8 8516 HP:0008678 Renal hypoplasia/aplasia ORPHANET:1848 ITGA8 8516 HP:0000347 Micrognathia ORPHANET:1848 ITGA8 8516 HP:0100589 Urogenital fistula ORPHANET:1848 ITGA8 8516 HP:0006703 Aplasia/Hypoplasia of the lungs ORPHANET:1848 ITGA8 8516 HP:0010497 Sirenomelia ORPHANET:1848 ITGA8 8516 HP:0005107 Abnormality of the sacrum ORPHANET:1848 ITGA8 8516 HP:0000286 Epicanthus ORPHANET:1848 ITGA8 8516 HP:0000175 Cleft palate ORPHANET:1848 ITGA8 8516 HP:0100335 Non-midline cleft lip ORPHANET:1848 ITGA8 8516 HP:0001562 Oligohydramnios ORPHANET:1848 ITGA8 8516 HP:0002564 Malformation of the heart and great vessels ORPHANET:1848 ITGA8 8516 HP:0002242 Abnormality of the intestine ORPHANET:1848 ITGA8 8516 HP:0002575 Tracheoesophageal fistula ORPHANET:1848 ITGA8 8516 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:1848 ITGA8 8516 HP:0000008 Abnormality of female internal genitalia ORPHANET:1848 ITGA8 8516 HP:0000316 Hypertelorism ORPHANET:1848 ITGA8 8516 HP:0000366 Abnormality of the nose ORPHANET:1848 RET 5979 HP:0008678 Renal hypoplasia/aplasia ORPHANET:1848 RET 5979 HP:0000347 Micrognathia ORPHANET:1848 RET 5979 HP:0100589 Urogenital fistula ORPHANET:1848 RET 5979 HP:0006703 Aplasia/Hypoplasia of the lungs ORPHANET:1848 RET 5979 HP:0010497 Sirenomelia ORPHANET:1848 RET 5979 HP:0005107 Abnormality of the sacrum ORPHANET:1848 RET 5979 HP:0000286 Epicanthus ORPHANET:1848 RET 5979 HP:0000175 Cleft palate ORPHANET:1848 RET 5979 HP:0100335 Non-midline cleft lip ORPHANET:1848 RET 5979 HP:0001562 Oligohydramnios ORPHANET:1848 RET 5979 HP:0002564 Malformation of the heart and great vessels ORPHANET:1848 RET 5979 HP:0002242 Abnormality of the intestine ORPHANET:1848 RET 5979 HP:0002575 Tracheoesophageal fistula ORPHANET:1848 RET 5979 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:1848 RET 5979 HP:0000008 Abnormality of female internal genitalia ORPHANET:1848 RET 5979 HP:0000316 Hypertelorism ORPHANET:1848 RET 5979 HP:0000366 Abnormality of the nose ORPHANET:1848 FGF20 26281 HP:0008678 Renal hypoplasia/aplasia ORPHANET:1848 FGF20 26281 HP:0000347 Micrognathia ORPHANET:1848 FGF20 26281 HP:0100589 Urogenital fistula ORPHANET:1848 FGF20 26281 HP:0006703 Aplasia/Hypoplasia of the lungs ORPHANET:1848 FGF20 26281 HP:0010497 Sirenomelia ORPHANET:1848 FGF20 26281 HP:0005107 Abnormality of the sacrum ORPHANET:1848 FGF20 26281 HP:0000286 Epicanthus ORPHANET:1848 FGF20 26281 HP:0000175 Cleft palate ORPHANET:1848 FGF20 26281 HP:0100335 Non-midline cleft lip ORPHANET:1848 FGF20 26281 HP:0001562 Oligohydramnios ORPHANET:1848 FGF20 26281 HP:0002564 Malformation of the heart and great vessels ORPHANET:1848 FGF20 26281 HP:0002242 Abnormality of the intestine ORPHANET:1848 FGF20 26281 HP:0002575 Tracheoesophageal fistula ORPHANET:1848 FGF20 26281 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:1848 FGF20 26281 HP:0000008 Abnormality of female internal genitalia ORPHANET:1848 FGF20 26281 HP:0000316 Hypertelorism ORPHANET:1848 FGF20 26281 HP:0000366 Abnormality of the nose OMIM:610829 GLI2 2736 HP:0001360 Holoprosencephaly OMIM:610829 GLI2 2736 HP:0000689 Dental malocclusion OMIM:610829 GLI2 2736 HP:0011272 Underdeveloped tragus OMIM:610829 GLI2 2736 HP:0003829 Incomplete penetrance OMIM:610829 GLI2 2736 HP:0001338 Partial agenesis of the corpus callosum OMIM:610829 GLI2 2736 HP:0000028 Cryptorchidism OMIM:610829 GLI2 2736 HP:0000252 Microcephaly OMIM:610829 GLI2 2736 HP:0003745 Sporadic OMIM:610829 GLI2 2736 HP:0000322 Short philtrum OMIM:610829 GLI2 2736 HP:0005280 Depressed nasal bridge OMIM:610829 GLI2 2736 HP:0006485 Agenesis of incisor OMIM:610829 GLI2 2736 HP:0010626 Anterior pituitary agenesis OMIM:610829 GLI2 2736 HP:0000238 Hydrocephalus OMIM:610829 GLI2 2736 HP:0000609 Optic nerve hypoplasia OMIM:610829 GLI2 2736 HP:0011800 Midface retrusion OMIM:610829 GLI2 2736 HP:0010650 Premaxillary underdevelopment OMIM:610829 GLI2 2736 HP:0000327 Hypoplasia of the maxilla OMIM:610829 GLI2 2736 HP:0000395 Prominent antihelix OMIM:610829 GLI2 2736 HP:0002744 Bilateral cleft lip and palate OMIM:610829 GLI2 2736 HP:0000006 Autosomal dominant inheritance OMIM:610829 GLI2 2736 HP:0001263 Global developmental delay OMIM:610829 GLI2 2736 HP:0009932 Single naris OMIM:610829 GLI2 2736 HP:0010627 Anterior pituitary hypoplasia OMIM:610829 GLI2 2736 HP:0000601 Hypotelorism OMIM:610829 GLI2 2736 HP:0000400 Macrotia OMIM:610829 GLI2 2736 HP:0010290 Short hard palate OMIM:610829 GLI2 2736 HP:0000871 Panhypopituitarism OMIM:610829 GLI2 2736 HP:0003828 Variable expressivity OMIM:610829 GLI2 2736 HP:0000528 Anophthalmia OMIM:610829 GLI2 2736 HP:0002536 Abnormal cortical gyration OMIM:610829 GLI2 2736 HP:0000272 Malar flattening OMIM:610829 GLI2 2736 HP:0001162 Postaxial hand polydactyly OMIM:610829 GLI2 2736 HP:0000568 Microphthalmos OMIM:610829 GLI2 2736 HP:0004322 Short stature OMIM:610829 GLI2 2736 HP:0000824 Growth hormone deficiency OMIM:610829 GLI2 2736 HP:0001250 Seizures OMIM:610829 GLI2 2736 HP:0000054 Micropenis OMIM:610829 GLI2 2736 HP:0006315 Single median maxillary incisor OMIM:614022 SCN5A 6331 HP:0006671 Paroxysmal atrial tachycardia OMIM:614022 SCN5A 6331 HP:0004749 Atrial flutter OMIM:614022 SCN5A 6331 HP:0001712 Left ventricular hypertrophy OMIM:614022 SCN5A 6331 HP:0005180 Tricuspid regurgitation OMIM:614022 SCN5A 6331 HP:0004757 Paroxysmal atrial fibrillation OMIM:614022 SCN5A 6331 HP:0000006 Autosomal dominant inheritance OMIM:176200 PPOX 5498 HP:0002019 Constipation OMIM:176200 PPOX 5498 HP:0000992 Cutaneous photosensitivity OMIM:176200 PPOX 5498 HP:0009830 Peripheral neuropathy OMIM:176200 PPOX 5498 HP:0007440 Generalized hyperpigmentation OMIM:176200 PPOX 5498 HP:0000963 Thin skin OMIM:176200 PPOX 5498 HP:0002013 Vomiting OMIM:176200 PPOX 5498 HP:0000709 Psychosis OMIM:176200 PPOX 5498 HP:0008066 Abnormal blistering of the skin OMIM:176200 PPOX 5498 HP:0001649 Tachycardia OMIM:176200 PPOX 5498 HP:0002027 Abdominal pain OMIM:176200 PPOX 5498 HP:0010473 Porphyrinuria OMIM:176200 PPOX 5498 HP:0000006 Autosomal dominant inheritance OMIM:606072 CAV3 859 HP:0003760 Percussion-induced rapid rolling muscle contractions (PIRC) OMIM:606072 CAV3 859 HP:0003719 Muscle mounding OMIM:606072 CAV3 859 HP:0003712 Skeletal muscle hypertrophy OMIM:606072 CAV3 859 HP:0003738 Exercise-induced myalgia OMIM:606072 CAV3 859 HP:0003581 Adult onset OMIM:606072 CAV3 859 HP:0008967 Exercise-induced muscle stiffness OMIM:606072 CAV3 859 HP:0000006 Autosomal dominant inheritance OMIM:606072 CAV3 859 HP:0003710 Exercise-induced muscle cramps OMIM:606072 CAV3 859 HP:0003457 EMG abnormality OMIM:606072 CAV3 859 HP:0003236 Elevated serum creatine phosphokinase OMIM:606072 CAV3 859 HP:0003559 Muscle hyperirritability OMIM:252900 SGSH 6448 HP:0000280 Coarse facial features OMIM:252900 SGSH 6448 HP:0003309 Ovoid thoracolumbar vertebrae OMIM:252900 SGSH 6448 HP:0001387 Joint stiffness OMIM:252900 SGSH 6448 HP:0001250 Seizures OMIM:252900 SGSH 6448 HP:0000365 Hearing impairment OMIM:252900 SGSH 6448 HP:0002788 Recurrent upper respiratory tract infections OMIM:252900 SGSH 6448 HP:0001670 Asymmetric septal hypertrophy OMIM:252900 SGSH 6448 HP:0000943 Dysostosis multiplex OMIM:252900 SGSH 6448 HP:0000250 Dense calvaria OMIM:252900 SGSH 6448 HP:0000900 Thickened ribs OMIM:252900 SGSH 6448 HP:0002014 Diarrhea OMIM:252900 SGSH 6448 HP:0002360 Sleep disturbance OMIM:252900 SGSH 6448 HP:0001249 Intellectual disability OMIM:252900 SGSH 6448 HP:0002208 Coarse hair OMIM:252900 SGSH 6448 HP:0000007 Autosomal recessive inheritance OMIM:252900 SGSH 6448 HP:0001744 Splenomegaly OMIM:252900 SGSH 6448 HP:0001507 Growth abnormality OMIM:252900 SGSH 6448 HP:0000664 Synophrys OMIM:252900 SGSH 6448 HP:0002159 Heparan sulfate excretion in urine OMIM:252900 SGSH 6448 HP:0002240 Hepatomegaly OMIM:252900 SGSH 6448 HP:0001007 Hirsutism OMIM:252900 SGSH 6448 HP:0000752 Hyperactivity OMIM:135300 SOS1 6654 HP:0000006 Autosomal dominant inheritance OMIM:135300 SOS1 6654 HP:0000169 Gingival fibromatosis OMIM:609621 KCNQ1 3784 HP:0000006 Autosomal dominant inheritance OMIM:609621 KCNQ1 3784 HP:0001645 Sudden cardiac death OMIM:609621 KCNQ1 3784 HP:0001279 Syncope OMIM:609621 KCNQ1 3784 HP:0012232 Shortened QT interval OMIM:609621 KCNQ1 3784 HP:0005110 Atrial fibrillation OMIM:610508 KLF11 8462 HP:0005978 Type II diabetes mellitus OMIM:610508 KLF11 8462 HP:0000006 Autosomal dominant inheritance OMIM:610508 KLF11 8462 HP:0004904 Maturity-onset diabetes of the young OMIM:278760 ERCC4 2072 HP:0001371 Flexion contracture OMIM:278760 ERCC4 2072 HP:0001249 Intellectual disability OMIM:278760 ERCC4 2072 HP:0200034 Papule OMIM:278760 ERCC4 2072 HP:0003812 Phenotypic variability OMIM:278760 ERCC4 2072 HP:0007587 Numerous pigmented freckles OMIM:278760 ERCC4 2072 HP:0008069 Neoplasm of the skin OMIM:278760 ERCC4 2072 HP:0000007 Autosomal recessive inheritance OMIM:278760 ERCC4 2072 HP:0000252 Microcephaly OMIM:278760 ERCC4 2072 HP:0000726 Dementia OMIM:278760 ERCC4 2072 HP:0000639 Nystagmus OMIM:278760 ERCC4 2072 HP:0000490 Deeply set eye OMIM:278760 ERCC4 2072 HP:0004325 Decreased body weight OMIM:278760 ERCC4 2072 HP:0002650 Scoliosis OMIM:278760 ERCC4 2072 HP:0001337 Tremor OMIM:278760 ERCC4 2072 HP:0004322 Short stature OMIM:278760 ERCC4 2072 HP:0000992 Cutaneous photosensitivity OMIM:278760 ERCC4 2072 HP:0000365 Hearing impairment OMIM:278760 ERCC4 2072 HP:0003079 Defective DNA repair after ultraviolet radiation damage OMIM:278760 ERCC4 2072 HP:0001251 Ataxia OMIM:278760 ERCC4 2072 HP:0012444 Brain atrophy OMIM:278760 ERCC4 2072 HP:0000483 Astigmatism OMIM:610455 SAMD9 54809 HP:0000509 Conjunctivitis OMIM:610455 SAMD9 54809 HP:0003761 Calcinosis OMIM:610455 SAMD9 54809 HP:0000007 Autosomal recessive inheritance OMIM:610455 SAMD9 54809 HP:0000951 Abnormality of the skin OMIM:610455 SAMD9 54809 HP:0000230 Gingivitis OMIM:208230 WISP3 8838 HP:0010580 Enlarged epiphyses OMIM:208230 WISP3 8838 HP:0003312 Abnormal form of the vertebral bodies OMIM:208230 WISP3 8838 HP:0100490 Camptodactyly of finger OMIM:208230 WISP3 8838 HP:0002751 Kyphoscoliosis OMIM:208230 WISP3 8838 HP:0000926 Platyspondyly OMIM:208230 WISP3 8838 HP:0002355 Difficulty walking OMIM:208230 WISP3 8838 HP:0004576 Sclerotic vertebral endplates OMIM:208230 WISP3 8838 HP:0001760 Abnormality of the foot OMIM:208230 WISP3 8838 HP:0003071 Flattened epiphysis OMIM:208230 WISP3 8838 HP:0000007 Autosomal recessive inheritance OMIM:208230 WISP3 8838 HP:0001324 Muscle weakness OMIM:208230 WISP3 8838 HP:0001386 Joint swelling OMIM:208230 WISP3 8838 HP:0002515 Waddling gait OMIM:208230 WISP3 8838 HP:0002815 Abnormality of the knees OMIM:208230 WISP3 8838 HP:0002758 Osteoarthritis OMIM:208230 WISP3 8838 HP:0002808 Kyphosis OMIM:208230 WISP3 8838 HP:0002650 Scoliosis OMIM:208230 WISP3 8838 HP:0001376 Limitation of joint mobility OMIM:208230 WISP3 8838 HP:0003371 Enlargement of the proximal femoral epiphysis OMIM:208230 WISP3 8838 HP:0006163 Enlarged metacarpophalangeal joints OMIM:208230 WISP3 8838 HP:0002812 Coxa vara OMIM:208230 WISP3 8838 HP:0001387 Joint stiffness OMIM:208230 WISP3 8838 HP:0004322 Short stature OMIM:208230 WISP3 8838 HP:0000939 Osteoporosis OMIM:208230 WISP3 8838 HP:0004637 Decreased cervical spine mobility OMIM:208230 WISP3 8838 HP:0003016 Metaphyseal widening OMIM:208230 WISP3 8838 HP:0003040 Arthropathy OMIM:208230 WISP3 8838 HP:0003272 Abnormality of the hip bone OMIM:208230 WISP3 8838 HP:0006247 Enlarged interphalangeal joints OMIM:208230 WISP3 8838 HP:0002970 Genu varum OMIM:605809 CHRNE 1145 HP:0001283 Bulbar palsy OMIM:605809 CHRNE 1145 HP:0008872 Feeding difficulties in infancy OMIM:605809 CHRNE 1145 HP:0002033 Poor suck OMIM:605809 CHRNE 1145 HP:0002872 Apneic episodes precipitated by illness, fatigue, stress OMIM:605809 CHRNE 1145 HP:0001612 Weak cry OMIM:605809 CHRNE 1145 HP:0002015 Dysphagia OMIM:605809 CHRNE 1145 HP:0000486 Strabismus OMIM:605809 CHRNE 1145 HP:0003690 Limb muscle weakness OMIM:605809 CHRNE 1145 HP:0000007 Autosomal recessive inheritance OMIM:605809 CHRNE 1145 HP:0002098 Respiratory distress OMIM:605809 CHRNE 1145 HP:0003577 Congenital onset OMIM:605809 CHRNE 1145 HP:0001290 Generalized hypotonia OMIM:605809 CHRNE 1145 HP:0003397 Generalized hypotonia due to defect at the neuromuscular junction OMIM:605809 CHRNE 1145 HP:0002882 Sudden episodic apnea OMIM:605809 CHRNE 1145 HP:0003402 Decreased miniature endplate potentials OMIM:605809 CHRNE 1145 HP:0003473 Fatigable weakness OMIM:605809 CHRNE 1145 HP:0003403 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation OMIM:605809 CHRNE 1145 HP:0000597 Ophthalmoparesis OMIM:605809 CHRNE 1145 HP:0003554 Type 2 muscle fiber atrophy OMIM:605809 CHRNE 1145 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:605809 CHRNE 1145 HP:0000508 Ptosis OMIM:605809 CHRNE 1145 HP:0003388 Easy fatigability OMIM:601894 FN1 2335 HP:0003774 Stage 5 chronic kidney disease OMIM:601894 FN1 2335 HP:0002907 Microscopic hematuria OMIM:601894 FN1 2335 HP:0100820 Glomerulopathy OMIM:601894 FN1 2335 HP:0000006 Autosomal dominant inheritance OMIM:601894 FN1 2335 HP:0004916 Generalized distal tubular acidosis OMIM:601894 FN1 2335 HP:0000100 Nephrotic syndrome OMIM:601894 FN1 2335 HP:0005584 Renal cell carcinoma OMIM:601894 FN1 2335 HP:0000822 Hypertension OMIM:601894 FN1 2335 HP:0000093 Proteinuria OMIM:601894 FN1 2335 HP:0003677 Slow progression OMIM:202110 CYP17A1 1586 HP:0008221 Adrenal hyperplasia OMIM:202110 CYP17A1 1586 HP:0000062 Ambiguous genitalia OMIM:202110 CYP17A1 1586 HP:0001949 Hypokalemic alkalosis OMIM:202110 CYP17A1 1586 HP:0000840 Adrenogenital syndrome OMIM:202110 CYP17A1 1586 HP:0000007 Autosomal recessive inheritance OMIM:202110 CYP17A1 1586 HP:0000037 Male pseudohermaphroditism OMIM:202110 CYP17A1 1586 HP:0000822 Hypertension OMIM:202110 CYP17A1 1586 HP:0000786 Primary amenorrhea OMIM:202110 CYP17A1 1586 HP:0000771 Gynecomastia OMIM:118100 GDF6 392255 HP:0005988 Congenital muscular torticollis OMIM:118100 GDF6 392255 HP:0000470 Short neck OMIM:118100 GDF6 392255 HP:0000175 Cleft palate OMIM:118100 GDF6 392255 HP:0002162 Low posterior hairline OMIM:118100 GDF6 392255 HP:0002564 Malformation of the heart and great vessels OMIM:118100 GDF6 392255 HP:0000772 Abnormality of the ribs OMIM:118100 GDF6 392255 HP:0002813 Abnormality of limb bone morphology OMIM:118100 GDF6 392255 HP:0000122 Unilateral renal agenesis OMIM:118100 GDF6 392255 HP:0001335 Bimanual synkinesia OMIM:118100 GDF6 392255 HP:0000466 Limited neck range of motion OMIM:118100 GDF6 392255 HP:0002650 Scoliosis OMIM:118100 GDF6 392255 HP:0000006 Autosomal dominant inheritance OMIM:118100 GDF6 392255 HP:0007291 Posterior fossa cyst OMIM:118100 GDF6 392255 HP:0000912 Sprengel anomaly OMIM:118100 GDF6 392255 HP:0030325 Cervicomedullary schisis OMIM:118100 GDF6 392255 HP:0000465 Webbed neck OMIM:118100 GDF6 392255 HP:0000324 Facial asymmetry OMIM:118100 GDF6 392255 HP:0000410 Mixed hearing impairment OMIM:118100 GDF6 392255 HP:0004602 Cervical vertebral fusion (C2/C3) OMIM:118100 GDF6 392255 HP:0005640 Abnormal vertebral segmentation and fusion OMIM:234000 F12 2161 HP:0005542 Prolonged whole-blood clotting time OMIM:234000 F12 2161 HP:0004841 Reduced factor XII activity OMIM:234000 F12 2161 HP:0003645 Prolonged partial thromboplastin time OMIM:234000 F12 2161 HP:0000007 Autosomal recessive inheritance ORPHANET:158673 COL7A1 1294 HP:0008066 Abnormal blistering of the skin ORPHANET:158673 COL7A1 1294 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:158673 COL7A1 1294 HP:0001597 Abnormality of the nail OMIM:308350 ARX 170302 HP:0004374 Hemiplegia/hemiparesis OMIM:308350 ARX 170302 HP:0100543 Cognitive impairment OMIM:308350 ARX 170302 HP:0001249 Intellectual disability OMIM:308350 ARX 170302 HP:0001250 Seizures OMIM:308350 ARX 170302 HP:0001276 Hypertonia OMIM:308350 ARX 170302 HP:0002094 Dyspnea OMIM:308350 ARX 170302 HP:0001347 Hyperreflexia OMIM:308350 ARX 170302 HP:0008936 Muscular hypotonia of the trunk OMIM:308350 ARX 170302 HP:0001257 Spasticity OMIM:308350 ARX 170302 HP:0001419 X-linked recessive inheritance OMIM:308350 ARX 170302 HP:0002521 Hypsarrhythmia OMIM:308350 ARX 170302 HP:0000252 Microcephaly OMIM:308350 ARX 170302 HP:0002123 Generalized myoclonic seizures OMIM:308350 ARX 170302 HP:0001332 Dystonia OMIM:308350 ARX 170302 HP:0001266 Choreoathetosis OMIM:308350 ARX 170302 HP:0002015 Dysphagia OMIM:308350 ARX 170302 HP:0002119 Ventriculomegaly OMIM:308350 ARX 170302 HP:0200134 Epileptic encephalopathy OMIM:616400 TRPV3 162514 HP:0000962 Hyperkeratosis OMIM:176100 UROD 7389 HP:0000006 Autosomal dominant inheritance OMIM:176100 UROD 7389 HP:0001596 Alopecia OMIM:176100 UROD 7389 HP:0001030 Fragile skin OMIM:176100 UROD 7389 HP:0000992 Cutaneous photosensitivity OMIM:176100 UROD 7389 HP:0001402 Hepatocellular carcinoma OMIM:176100 UROD 7389 HP:0000963 Thin skin OMIM:176100 UROD 7389 HP:0001806 Onycholysis OMIM:176100 UROD 7389 HP:0002219 Facial hypertrichosis OMIM:176100 UROD 7389 HP:0005586 Hyperpigmentation in sun-exposed areas OMIM:176100 UROD 7389 HP:0001878 Hemolytic anemia OMIM:176100 UROD 7389 HP:0100324 Scleroderma OMIM:176100 UROD 7389 HP:0001394 Cirrhosis OMIM:605192 SIX1 6495 HP:0000407 Sensorineural hearing impairment OMIM:605192 SIX1 6495 HP:0000405 Conductive hearing impairment OMIM:605192 SIX1 6495 HP:0000006 Autosomal dominant inheritance OMIM:172800 KIT 3815 HP:0000664 Synophrys OMIM:172800 KIT 3815 HP:0001034 Hypermelanotic macule OMIM:172800 KIT 3815 HP:0002648 Abnormality of calvarial morphology OMIM:172800 KIT 3815 HP:0002211 White forelock OMIM:172800 KIT 3815 HP:0100543 Cognitive impairment OMIM:172800 KIT 3815 HP:0000343 Long philtrum OMIM:172800 KIT 3815 HP:0001100 Heterochromia iridis OMIM:172800 KIT 3815 HP:0007544 Piebaldism OMIM:172800 KIT 3815 HP:0002251 Aganglionic megacolon OMIM:172800 KIT 3815 HP:0007443 Partial albinism OMIM:172800 KIT 3815 HP:0001053 Hypopigmented skin patches OMIM:172800 KIT 3815 HP:0002311 Incoordination OMIM:172800 KIT 3815 HP:0000252 Microcephaly OMIM:172800 KIT 3815 HP:0001252 Muscular hypotonia OMIM:172800 KIT 3815 HP:0008069 Neoplasm of the skin OMIM:172800 KIT 3815 HP:0000598 Abnormality of the ear OMIM:172800 KIT 3815 HP:0000006 Autosomal dominant inheritance OMIM:172800 KIT 3815 HP:0002664 Neoplasm OMIM:172800 KIT 3815 HP:0000431 Wide nasal bridge OMIM:172800 KIT 3815 HP:0007542 Absent pigmentation of the ventral chest OMIM:172800 KIT 3815 HP:0000365 Hearing impairment OMIM:172800 SNAI2 6591 HP:0000664 Synophrys OMIM:172800 SNAI2 6591 HP:0001034 Hypermelanotic macule OMIM:172800 SNAI2 6591 HP:0002648 Abnormality of calvarial morphology OMIM:172800 SNAI2 6591 HP:0002211 White forelock OMIM:172800 SNAI2 6591 HP:0100543 Cognitive impairment OMIM:172800 SNAI2 6591 HP:0000343 Long philtrum OMIM:172800 SNAI2 6591 HP:0001100 Heterochromia iridis OMIM:172800 SNAI2 6591 HP:0007544 Piebaldism OMIM:172800 SNAI2 6591 HP:0002251 Aganglionic megacolon OMIM:172800 SNAI2 6591 HP:0007443 Partial albinism OMIM:172800 SNAI2 6591 HP:0001053 Hypopigmented skin patches OMIM:172800 SNAI2 6591 HP:0002311 Incoordination OMIM:172800 SNAI2 6591 HP:0000252 Microcephaly OMIM:172800 SNAI2 6591 HP:0001252 Muscular hypotonia OMIM:172800 SNAI2 6591 HP:0008069 Neoplasm of the skin OMIM:172800 SNAI2 6591 HP:0000598 Abnormality of the ear OMIM:172800 SNAI2 6591 HP:0000006 Autosomal dominant inheritance OMIM:172800 SNAI2 6591 HP:0002664 Neoplasm OMIM:172800 SNAI2 6591 HP:0000431 Wide nasal bridge OMIM:172800 SNAI2 6591 HP:0007542 Absent pigmentation of the ventral chest OMIM:172800 SNAI2 6591 HP:0000365 Hearing impairment OMIM:608984 RNF170 81790 HP:0001284 Areflexia OMIM:608984 RNF170 81790 HP:0003581 Adult onset OMIM:608984 RNF170 81790 HP:0010871 Sensory ataxia OMIM:608984 RNF170 81790 HP:0006962 Gait instability, worse in the dark OMIM:608984 RNF170 81790 HP:0000006 Autosomal dominant inheritance OMIM:608984 RNF170 81790 HP:0001265 Hyporeflexia OMIM:608984 RNF170 81790 HP:0003487 Babinski sign OMIM:608984 RNF170 81790 HP:0002403 Positive Romberg sign OMIM:608984 RNF170 81790 HP:0003409 Distal sensory impairment of all modalities ORPHANET:1340 MAP2K1 5604 HP:0000256 Macrocephaly ORPHANET:1340 MAP2K1 5604 HP:0000341 Narrow forehead ORPHANET:1340 MAP2K1 5604 HP:0000639 Nystagmus ORPHANET:1340 MAP2K1 5604 HP:0000767 Pectus excavatum ORPHANET:1340 MAP2K1 5604 HP:0002012 Abnormality of the abdominal organs ORPHANET:1340 MAP2K1 5604 HP:0000175 Cleft palate ORPHANET:1340 MAP2K1 5604 HP:0000316 Hypertelorism ORPHANET:1340 MAP2K1 5604 HP:0001004 Lymphedema ORPHANET:1340 MAP2K1 5604 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:1340 MAP2K1 5604 HP:0000982 Palmoplantar keratoderma ORPHANET:1340 MAP2K1 5604 HP:0004414 Abnormality of the pulmonary artery ORPHANET:1340 MAP2K1 5604 HP:0010935 Abnormality of the upper urinary tract ORPHANET:1340 MAP2K1 5604 HP:0000465 Webbed neck ORPHANET:1340 MAP2K1 5604 HP:0000280 Coarse facial features ORPHANET:1340 MAP2K1 5604 HP:0000973 Cutis laxa ORPHANET:1340 MAP2K1 5604 HP:0001622 Premature birth ORPHANET:1340 MAP2K1 5604 HP:0002167 Neurological speech impairment ORPHANET:1340 MAP2K1 5604 HP:0007440 Generalized hyperpigmentation ORPHANET:1340 MAP2K1 5604 HP:0000463 Anteverted nares ORPHANET:1340 MAP2K1 5604 HP:0000648 Optic atrophy ORPHANET:1340 MAP2K1 5604 HP:0010669 Cheekbone underdevelopment ORPHANET:1340 MAP2K1 5604 HP:0001654 Abnormality of the heart valves ORPHANET:1340 MAP2K1 5604 HP:0001231 Abnormality of the fingernails ORPHANET:1340 MAP2K1 5604 HP:0002217 Slow-growing hair ORPHANET:1340 MAP2K1 5604 HP:0002650 Scoliosis ORPHANET:1340 MAP2K1 5604 HP:0001252 Muscular hypotonia ORPHANET:1340 MAP2K1 5604 HP:0000238 Hydrocephalus ORPHANET:1340 MAP2K1 5604 HP:0002857 Genu valgum ORPHANET:1340 MAP2K1 5604 HP:0000293 Full cheeks ORPHANET:1340 MAP2K1 5604 HP:0003196 Short nose ORPHANET:1340 MAP2K1 5604 HP:0000545 Myopia ORPHANET:1340 MAP2K1 5604 HP:0005280 Depressed nasal bridge ORPHANET:1340 MAP2K1 5604 HP:0000637 Long palpebral fissure ORPHANET:1340 MAP2K1 5604 HP:0001631 Defect in the atrial septum ORPHANET:1340 MAP2K1 5604 HP:0006191 Deep palmar crease ORPHANET:1340 MAP2K1 5604 HP:0000276 Long face ORPHANET:1340 MAP2K1 5604 HP:0000391 Thickened helices ORPHANET:1340 MAP2K1 5604 HP:0008064 Ichthyosis ORPHANET:1340 MAP2K1 5604 HP:0000343 Long philtrum ORPHANET:1340 MAP2K1 5604 HP:0000958 Dry skin ORPHANET:1340 MAP2K1 5604 HP:0002162 Low posterior hairline ORPHANET:1340 MAP2K1 5604 HP:0002007 Frontal bossing ORPHANET:1340 MAP2K1 5604 HP:0004322 Short stature ORPHANET:1340 MAP2K1 5604 HP:0000494 Downslanted palpebral fissures ORPHANET:1340 MAP2K1 5604 HP:0000348 High forehead ORPHANET:1340 MAP2K1 5604 HP:0002997 Abnormality of the ulna ORPHANET:1340 MAP2K1 5604 HP:0000499 Abnormality of the eyelashes ORPHANET:1340 MAP2K1 5604 HP:0000028 Cryptorchidism ORPHANET:1340 MAP2K1 5604 HP:0000400 Macrotia ORPHANET:1340 MAP2K1 5604 HP:0000286 Epicanthus ORPHANET:1340 MAP2K1 5604 HP:0000998 Hypertrichosis ORPHANET:1340 MAP2K1 5604 HP:0000508 Ptosis ORPHANET:1340 MAP2K1 5604 HP:0000486 Strabismus ORPHANET:1340 MAP2K1 5604 HP:0002967 Cubitus valgus ORPHANET:1340 MAP2K1 5604 HP:0002353 EEG abnormality ORPHANET:1340 MAP2K1 5604 HP:0000470 Short neck ORPHANET:1340 MAP2K1 5604 HP:0002120 Cerebral cortical atrophy ORPHANET:1340 MAP2K1 5604 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:1340 MAP2K1 5604 HP:0009891 Underdeveloped supraorbital ridges ORPHANET:1340 MAP2K1 5604 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:1340 MAP2K1 5604 HP:0002213 Fine hair ORPHANET:1340 MAP2K1 5604 HP:0000974 Hyperextensible skin ORPHANET:1340 MAP2K1 5604 HP:0000957 Cafe-au-lait spot ORPHANET:1340 MAP2K1 5604 HP:0100543 Cognitive impairment ORPHANET:1340 MAP2K2 5605 HP:0000256 Macrocephaly ORPHANET:1340 MAP2K2 5605 HP:0000341 Narrow forehead ORPHANET:1340 MAP2K2 5605 HP:0000639 Nystagmus ORPHANET:1340 MAP2K2 5605 HP:0000767 Pectus excavatum ORPHANET:1340 MAP2K2 5605 HP:0002012 Abnormality of the abdominal organs ORPHANET:1340 MAP2K2 5605 HP:0000175 Cleft palate ORPHANET:1340 MAP2K2 5605 HP:0000316 Hypertelorism ORPHANET:1340 MAP2K2 5605 HP:0001004 Lymphedema ORPHANET:1340 MAP2K2 5605 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:1340 MAP2K2 5605 HP:0000982 Palmoplantar keratoderma ORPHANET:1340 MAP2K2 5605 HP:0004414 Abnormality of the pulmonary artery ORPHANET:1340 MAP2K2 5605 HP:0010935 Abnormality of the upper urinary tract ORPHANET:1340 MAP2K2 5605 HP:0000465 Webbed neck ORPHANET:1340 MAP2K2 5605 HP:0000280 Coarse facial features ORPHANET:1340 MAP2K2 5605 HP:0000973 Cutis laxa ORPHANET:1340 MAP2K2 5605 HP:0001622 Premature birth ORPHANET:1340 MAP2K2 5605 HP:0002167 Neurological speech impairment ORPHANET:1340 MAP2K2 5605 HP:0007440 Generalized hyperpigmentation ORPHANET:1340 MAP2K2 5605 HP:0000463 Anteverted nares ORPHANET:1340 MAP2K2 5605 HP:0000648 Optic atrophy ORPHANET:1340 MAP2K2 5605 HP:0010669 Cheekbone underdevelopment ORPHANET:1340 MAP2K2 5605 HP:0001654 Abnormality of the heart valves ORPHANET:1340 MAP2K2 5605 HP:0001231 Abnormality of the fingernails ORPHANET:1340 MAP2K2 5605 HP:0002217 Slow-growing hair ORPHANET:1340 MAP2K2 5605 HP:0002650 Scoliosis ORPHANET:1340 MAP2K2 5605 HP:0001252 Muscular hypotonia ORPHANET:1340 MAP2K2 5605 HP:0000238 Hydrocephalus ORPHANET:1340 MAP2K2 5605 HP:0002857 Genu valgum ORPHANET:1340 MAP2K2 5605 HP:0000293 Full cheeks ORPHANET:1340 MAP2K2 5605 HP:0003196 Short nose ORPHANET:1340 MAP2K2 5605 HP:0000545 Myopia ORPHANET:1340 MAP2K2 5605 HP:0005280 Depressed nasal bridge ORPHANET:1340 MAP2K2 5605 HP:0000637 Long palpebral fissure ORPHANET:1340 MAP2K2 5605 HP:0001631 Defect in the atrial septum ORPHANET:1340 MAP2K2 5605 HP:0006191 Deep palmar crease ORPHANET:1340 MAP2K2 5605 HP:0000276 Long face ORPHANET:1340 MAP2K2 5605 HP:0000391 Thickened helices ORPHANET:1340 MAP2K2 5605 HP:0008064 Ichthyosis ORPHANET:1340 MAP2K2 5605 HP:0000343 Long philtrum ORPHANET:1340 MAP2K2 5605 HP:0000958 Dry skin ORPHANET:1340 MAP2K2 5605 HP:0002162 Low posterior hairline ORPHANET:1340 MAP2K2 5605 HP:0002007 Frontal bossing ORPHANET:1340 MAP2K2 5605 HP:0004322 Short stature ORPHANET:1340 MAP2K2 5605 HP:0000494 Downslanted palpebral fissures ORPHANET:1340 MAP2K2 5605 HP:0000348 High forehead ORPHANET:1340 MAP2K2 5605 HP:0002997 Abnormality of the ulna ORPHANET:1340 MAP2K2 5605 HP:0000499 Abnormality of the eyelashes ORPHANET:1340 MAP2K2 5605 HP:0000028 Cryptorchidism ORPHANET:1340 MAP2K2 5605 HP:0000400 Macrotia ORPHANET:1340 MAP2K2 5605 HP:0000286 Epicanthus ORPHANET:1340 MAP2K2 5605 HP:0000998 Hypertrichosis ORPHANET:1340 MAP2K2 5605 HP:0000508 Ptosis ORPHANET:1340 MAP2K2 5605 HP:0000486 Strabismus ORPHANET:1340 MAP2K2 5605 HP:0002967 Cubitus valgus ORPHANET:1340 MAP2K2 5605 HP:0002353 EEG abnormality ORPHANET:1340 MAP2K2 5605 HP:0000470 Short neck ORPHANET:1340 MAP2K2 5605 HP:0002120 Cerebral cortical atrophy ORPHANET:1340 MAP2K2 5605 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:1340 MAP2K2 5605 HP:0009891 Underdeveloped supraorbital ridges ORPHANET:1340 MAP2K2 5605 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:1340 MAP2K2 5605 HP:0002213 Fine hair ORPHANET:1340 MAP2K2 5605 HP:0000974 Hyperextensible skin ORPHANET:1340 MAP2K2 5605 HP:0000957 Cafe-au-lait spot ORPHANET:1340 MAP2K2 5605 HP:0100543 Cognitive impairment ORPHANET:1340 KRAS 3845 HP:0000256 Macrocephaly ORPHANET:1340 KRAS 3845 HP:0000341 Narrow forehead ORPHANET:1340 KRAS 3845 HP:0000639 Nystagmus ORPHANET:1340 KRAS 3845 HP:0000767 Pectus excavatum ORPHANET:1340 KRAS 3845 HP:0002012 Abnormality of the abdominal organs ORPHANET:1340 KRAS 3845 HP:0000175 Cleft palate ORPHANET:1340 KRAS 3845 HP:0000316 Hypertelorism ORPHANET:1340 KRAS 3845 HP:0001004 Lymphedema ORPHANET:1340 KRAS 3845 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:1340 KRAS 3845 HP:0000982 Palmoplantar keratoderma ORPHANET:1340 KRAS 3845 HP:0004414 Abnormality of the pulmonary artery ORPHANET:1340 KRAS 3845 HP:0010935 Abnormality of the upper urinary tract ORPHANET:1340 KRAS 3845 HP:0000465 Webbed neck ORPHANET:1340 KRAS 3845 HP:0000280 Coarse facial features ORPHANET:1340 KRAS 3845 HP:0000973 Cutis laxa ORPHANET:1340 KRAS 3845 HP:0001622 Premature birth ORPHANET:1340 KRAS 3845 HP:0002167 Neurological speech impairment ORPHANET:1340 KRAS 3845 HP:0007440 Generalized hyperpigmentation ORPHANET:1340 KRAS 3845 HP:0000463 Anteverted nares ORPHANET:1340 KRAS 3845 HP:0000648 Optic atrophy ORPHANET:1340 KRAS 3845 HP:0010669 Cheekbone underdevelopment ORPHANET:1340 KRAS 3845 HP:0001654 Abnormality of the heart valves ORPHANET:1340 KRAS 3845 HP:0001231 Abnormality of the fingernails ORPHANET:1340 KRAS 3845 HP:0002217 Slow-growing hair ORPHANET:1340 KRAS 3845 HP:0002650 Scoliosis ORPHANET:1340 KRAS 3845 HP:0001252 Muscular hypotonia ORPHANET:1340 KRAS 3845 HP:0000238 Hydrocephalus ORPHANET:1340 KRAS 3845 HP:0002857 Genu valgum ORPHANET:1340 KRAS 3845 HP:0000293 Full cheeks ORPHANET:1340 KRAS 3845 HP:0003196 Short nose ORPHANET:1340 KRAS 3845 HP:0000545 Myopia ORPHANET:1340 KRAS 3845 HP:0005280 Depressed nasal bridge ORPHANET:1340 KRAS 3845 HP:0000637 Long palpebral fissure ORPHANET:1340 KRAS 3845 HP:0001631 Defect in the atrial septum ORPHANET:1340 KRAS 3845 HP:0006191 Deep palmar crease ORPHANET:1340 KRAS 3845 HP:0000276 Long face ORPHANET:1340 KRAS 3845 HP:0000391 Thickened helices ORPHANET:1340 KRAS 3845 HP:0008064 Ichthyosis ORPHANET:1340 KRAS 3845 HP:0000343 Long philtrum ORPHANET:1340 KRAS 3845 HP:0000958 Dry skin ORPHANET:1340 KRAS 3845 HP:0002162 Low posterior hairline ORPHANET:1340 KRAS 3845 HP:0002007 Frontal bossing ORPHANET:1340 KRAS 3845 HP:0004322 Short stature ORPHANET:1340 KRAS 3845 HP:0000494 Downslanted palpebral fissures ORPHANET:1340 KRAS 3845 HP:0000348 High forehead ORPHANET:1340 KRAS 3845 HP:0002997 Abnormality of the ulna ORPHANET:1340 KRAS 3845 HP:0000499 Abnormality of the eyelashes ORPHANET:1340 KRAS 3845 HP:0000028 Cryptorchidism ORPHANET:1340 KRAS 3845 HP:0000400 Macrotia ORPHANET:1340 KRAS 3845 HP:0000286 Epicanthus ORPHANET:1340 KRAS 3845 HP:0000998 Hypertrichosis ORPHANET:1340 KRAS 3845 HP:0000508 Ptosis ORPHANET:1340 KRAS 3845 HP:0000486 Strabismus ORPHANET:1340 KRAS 3845 HP:0002967 Cubitus valgus ORPHANET:1340 KRAS 3845 HP:0002353 EEG abnormality ORPHANET:1340 KRAS 3845 HP:0000470 Short neck ORPHANET:1340 KRAS 3845 HP:0002120 Cerebral cortical atrophy ORPHANET:1340 KRAS 3845 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:1340 KRAS 3845 HP:0009891 Underdeveloped supraorbital ridges ORPHANET:1340 KRAS 3845 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:1340 KRAS 3845 HP:0002213 Fine hair ORPHANET:1340 KRAS 3845 HP:0000974 Hyperextensible skin ORPHANET:1340 KRAS 3845 HP:0000957 Cafe-au-lait spot ORPHANET:1340 KRAS 3845 HP:0100543 Cognitive impairment ORPHANET:1340 BRAF 673 HP:0000256 Macrocephaly ORPHANET:1340 BRAF 673 HP:0000341 Narrow forehead ORPHANET:1340 BRAF 673 HP:0000639 Nystagmus ORPHANET:1340 BRAF 673 HP:0000767 Pectus excavatum ORPHANET:1340 BRAF 673 HP:0002012 Abnormality of the abdominal organs ORPHANET:1340 BRAF 673 HP:0000175 Cleft palate ORPHANET:1340 BRAF 673 HP:0000316 Hypertelorism ORPHANET:1340 BRAF 673 HP:0001004 Lymphedema ORPHANET:1340 BRAF 673 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:1340 BRAF 673 HP:0000982 Palmoplantar keratoderma ORPHANET:1340 BRAF 673 HP:0004414 Abnormality of the pulmonary artery ORPHANET:1340 BRAF 673 HP:0010935 Abnormality of the upper urinary tract ORPHANET:1340 BRAF 673 HP:0000465 Webbed neck ORPHANET:1340 BRAF 673 HP:0000280 Coarse facial features ORPHANET:1340 BRAF 673 HP:0000973 Cutis laxa ORPHANET:1340 BRAF 673 HP:0001622 Premature birth ORPHANET:1340 BRAF 673 HP:0002167 Neurological speech impairment ORPHANET:1340 BRAF 673 HP:0007440 Generalized hyperpigmentation ORPHANET:1340 BRAF 673 HP:0000463 Anteverted nares ORPHANET:1340 BRAF 673 HP:0000648 Optic atrophy ORPHANET:1340 BRAF 673 HP:0010669 Cheekbone underdevelopment ORPHANET:1340 BRAF 673 HP:0001654 Abnormality of the heart valves ORPHANET:1340 BRAF 673 HP:0001231 Abnormality of the fingernails ORPHANET:1340 BRAF 673 HP:0002217 Slow-growing hair ORPHANET:1340 BRAF 673 HP:0002650 Scoliosis ORPHANET:1340 BRAF 673 HP:0001252 Muscular hypotonia ORPHANET:1340 BRAF 673 HP:0000238 Hydrocephalus ORPHANET:1340 BRAF 673 HP:0002857 Genu valgum ORPHANET:1340 BRAF 673 HP:0000293 Full cheeks ORPHANET:1340 BRAF 673 HP:0003196 Short nose ORPHANET:1340 BRAF 673 HP:0000545 Myopia ORPHANET:1340 BRAF 673 HP:0005280 Depressed nasal bridge ORPHANET:1340 BRAF 673 HP:0000637 Long palpebral fissure ORPHANET:1340 BRAF 673 HP:0001631 Defect in the atrial septum ORPHANET:1340 BRAF 673 HP:0006191 Deep palmar crease ORPHANET:1340 BRAF 673 HP:0000276 Long face ORPHANET:1340 BRAF 673 HP:0000391 Thickened helices ORPHANET:1340 BRAF 673 HP:0008064 Ichthyosis ORPHANET:1340 BRAF 673 HP:0000343 Long philtrum ORPHANET:1340 BRAF 673 HP:0000958 Dry skin ORPHANET:1340 BRAF 673 HP:0002162 Low posterior hairline ORPHANET:1340 BRAF 673 HP:0002007 Frontal bossing ORPHANET:1340 BRAF 673 HP:0004322 Short stature ORPHANET:1340 BRAF 673 HP:0000494 Downslanted palpebral fissures ORPHANET:1340 BRAF 673 HP:0000348 High forehead ORPHANET:1340 BRAF 673 HP:0002997 Abnormality of the ulna ORPHANET:1340 BRAF 673 HP:0000499 Abnormality of the eyelashes ORPHANET:1340 BRAF 673 HP:0000028 Cryptorchidism ORPHANET:1340 BRAF 673 HP:0000400 Macrotia ORPHANET:1340 BRAF 673 HP:0000286 Epicanthus ORPHANET:1340 BRAF 673 HP:0000998 Hypertrichosis ORPHANET:1340 BRAF 673 HP:0000508 Ptosis ORPHANET:1340 BRAF 673 HP:0000486 Strabismus ORPHANET:1340 BRAF 673 HP:0002967 Cubitus valgus ORPHANET:1340 BRAF 673 HP:0002353 EEG abnormality ORPHANET:1340 BRAF 673 HP:0000470 Short neck ORPHANET:1340 BRAF 673 HP:0002120 Cerebral cortical atrophy ORPHANET:1340 BRAF 673 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:1340 BRAF 673 HP:0009891 Underdeveloped supraorbital ridges ORPHANET:1340 BRAF 673 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:1340 BRAF 673 HP:0002213 Fine hair ORPHANET:1340 BRAF 673 HP:0000974 Hyperextensible skin ORPHANET:1340 BRAF 673 HP:0000957 Cafe-au-lait spot ORPHANET:1340 BRAF 673 HP:0100543 Cognitive impairment OMIM:614430 GATA4 2626 HP:0000006 Autosomal dominant inheritance OMIM:614430 GATA4 2626 HP:0010445 Primum atrial septal defect OMIM:607346 KCND3 3752 HP:0001265 Hyporeflexia OMIM:607346 KCND3 3752 HP:0002174 Postural tremor OMIM:607346 KCND3 3752 HP:0000006 Autosomal dominant inheritance OMIM:607346 KCND3 3752 HP:0002078 Truncal ataxia OMIM:607346 KCND3 3752 HP:0001260 Dysarthria OMIM:607346 KCND3 3752 HP:0007944 Intermittent microsaccadic pursuits OMIM:607346 KCND3 3752 HP:0003677 Slow progression OMIM:607346 KCND3 3752 HP:0100543 Cognitive impairment OMIM:607346 KCND3 3752 HP:0002396 Cogwheel rigidity OMIM:607346 KCND3 3752 HP:0007979 Gaze-evoked horizontal nystagmus OMIM:607346 KCND3 3752 HP:0002066 Gait ataxia OMIM:607346 KCND3 3752 HP:0001272 Cerebellar atrophy OMIM:607346 KCND3 3752 HP:0002015 Dysphagia OMIM:607346 KCND3 3752 HP:0002070 Limb ataxia OMIM:607346 KCND3 3752 HP:0002073 Progressive cerebellar ataxia OMIM:607346 KCND3 3752 HP:0001336 Myoclonus OMIM:607346 KCND3 3752 HP:0001347 Hyperreflexia OMIM:608390 SCN4A 6329 HP:0002486 Myotonia OMIM:608390 SCN4A 6329 HP:0004322 Short stature OMIM:608390 SCN4A 6329 HP:0003712 Skeletal muscle hypertrophy OMIM:608390 SCN4A 6329 HP:0000006 Autosomal dominant inheritance OMIM:608390 SCN4A 6329 HP:0002093 Respiratory insufficiency OMIM:608390 SCN4A 6329 HP:0003202 Skeletal muscle atrophy OMIM:608390 SCN4A 6329 HP:0008872 Feeding difficulties in infancy OMIM:608390 SCN4A 6329 HP:0000347 Micrognathia OMIM:608390 SCN4A 6329 HP:0001371 Flexion contracture OMIM:608390 SCN4A 6329 HP:0003457 EMG abnormality OMIM:608390 SCN4A 6329 HP:0002099 Asthma OMIM:608390 SCN4A 6329 HP:0003198 Myopathy OMIM:608390 SCN4A 6329 HP:0001324 Muscle weakness OMIM:608390 SCN4A 6329 HP:0100749 Chest pain OMIM:608390 SCN4A 6329 HP:0000597 Ophthalmoparesis OMIM:608390 SCN4A 6329 HP:0100748 Muscular edema OMIM:608390 SCN4A 6329 HP:0005949 Apneic episodes in infancy OMIM:608390 SCN4A 6329 HP:0001288 Gait disturbance OMIM:608390 SCN4A 6329 HP:0003307 Hyperlordosis OMIM:608390 SCN4A 6329 HP:0000286 Epicanthus OMIM:608390 SCN4A 6329 HP:0001376 Limitation of joint mobility OMIM:608390 SCN4A 6329 HP:0000366 Abnormality of the nose OMIM:608390 SCN4A 6329 HP:0003326 Myalgia OMIM:608390 SCN4A 6329 HP:0000821 Hypothyroidism OMIM:608390 SCN4A 6329 HP:0001608 Abnormality of the voice OMIM:608390 SCN4A 6329 HP:0000343 Long philtrum OMIM:608390 SCN4A 6329 HP:0003401 Paresthesia OMIM:608390 SCN4A 6329 HP:0000470 Short neck OMIM:608390 SCN4A 6329 HP:0001276 Hypertonia OMIM:608390 SCN4A 6329 HP:0100543 Cognitive impairment OMIM:608390 SCN4A 6329 HP:0002153 Hyperkalemia OMIM:608390 SCN4A 6329 HP:0003236 Elevated serum creatine phosphokinase OMIM:608390 SCN4A 6329 HP:0003552 Muscle stiffness OMIM:608390 SCN4A 6329 HP:0010307 Stridor OMIM:616193 FMN2 56776 HP:0001263 Global developmental delay OMIM:616193 FMN2 56776 HP:0002384 Focal seizures with impairment of consciousness or awareness OMIM:616193 FMN2 56776 HP:0001252 Muscular hypotonia OMIM:616193 FMN2 56776 HP:0002465 Poor speech OMIM:104311 PSEN1 5663 HP:0002423 Long-tract signs OMIM:104311 PSEN1 5663 HP:0000006 Autosomal dominant inheritance OMIM:104311 PSEN1 5663 HP:0003593 Infantile onset OMIM:104311 PSEN1 5663 HP:0002185 Neurofibrillary tangles OMIM:104311 PSEN1 5663 HP:0001300 Parkinsonism OMIM:104311 PSEN1 5663 HP:0000726 Dementia OMIM:131760 KRT5 3852 HP:0008069 Neoplasm of the skin OMIM:131760 KRT5 3852 HP:0002019 Constipation OMIM:131760 KRT5 3852 HP:0002164 Nail dysplasia OMIM:131760 KRT5 3852 HP:0008066 Abnormal blistering of the skin OMIM:131760 KRT5 3852 HP:0000163 Abnormality of the oral cavity OMIM:131760 KRT5 3852 HP:0001933 Subcutaneous hemorrhage OMIM:131760 KRT5 3852 HP:0001075 Atrophic scars OMIM:131760 KRT5 3852 HP:0001056 Milia OMIM:131760 KRT5 3852 HP:0001510 Growth delay OMIM:131760 KRT5 3852 HP:0000972 Palmoplantar hyperkeratosis OMIM:131760 KRT5 3852 HP:0200042 Skin ulcer OMIM:131760 KRT5 3852 HP:0000006 Autosomal dominant inheritance OMIM:131760 KRT5 3852 HP:0001000 Abnormality of skin pigmentation OMIM:131760 KRT5 3852 HP:0008872 Feeding difficulties in infancy OMIM:131760 KRT5 3852 HP:0001231 Abnormality of the fingernails OMIM:131760 KRT5 3852 HP:0008404 Nail dystrophy OMIM:131760 KRT5 3852 HP:0000982 Palmoplantar keratoderma OMIM:131760 KRT5 3852 HP:0003623 Neonatal onset OMIM:131760 KRT14 3861 HP:0008069 Neoplasm of the skin OMIM:131760 KRT14 3861 HP:0002019 Constipation OMIM:131760 KRT14 3861 HP:0002164 Nail dysplasia OMIM:131760 KRT14 3861 HP:0008066 Abnormal blistering of the skin OMIM:131760 KRT14 3861 HP:0000163 Abnormality of the oral cavity OMIM:131760 KRT14 3861 HP:0001933 Subcutaneous hemorrhage OMIM:131760 KRT14 3861 HP:0001075 Atrophic scars OMIM:131760 KRT14 3861 HP:0001056 Milia OMIM:131760 KRT14 3861 HP:0001510 Growth delay OMIM:131760 KRT14 3861 HP:0000972 Palmoplantar hyperkeratosis OMIM:131760 KRT14 3861 HP:0200042 Skin ulcer OMIM:131760 KRT14 3861 HP:0000006 Autosomal dominant inheritance OMIM:131760 KRT14 3861 HP:0001000 Abnormality of skin pigmentation OMIM:131760 KRT14 3861 HP:0008872 Feeding difficulties in infancy OMIM:131760 KRT14 3861 HP:0001231 Abnormality of the fingernails OMIM:131760 KRT14 3861 HP:0008404 Nail dystrophy OMIM:131760 KRT14 3861 HP:0000982 Palmoplantar keratoderma OMIM:131760 KRT14 3861 HP:0003623 Neonatal onset OMIM:614254 GRIN1 2902 HP:0001249 Intellectual disability OMIM:614254 GRIN1 2902 HP:0000006 Autosomal dominant inheritance OMIM:193900 KRT4 3851 HP:0002745 Oral leukoplakia OMIM:193900 KRT4 3851 HP:0001939 Abnormality of metabolism/homeostasis OMIM:193900 KRT4 3851 HP:0000006 Autosomal dominant inheritance OMIM:614450 THRA 7067 HP:0000006 Autosomal dominant inheritance OMIM:614450 THRA 7067 HP:0001510 Growth delay OMIM:614450 THRA 7067 HP:0004482 Relative macrocephaly OMIM:614450 THRA 7067 HP:0000316 Hypertelorism OMIM:614450 THRA 7067 HP:0002750 Delayed skeletal maturation OMIM:614450 THRA 7067 HP:0002019 Constipation OMIM:614450 THRA 7067 HP:0000958 Dry skin OMIM:614450 THRA 7067 HP:0012559 Increased T3/T4 ratio OMIM:614450 THRA 7067 HP:0002329 Drowsiness OMIM:614450 THRA 7067 HP:0002930 Thyroid hormone receptor defect OMIM:614450 THRA 7067 HP:0001539 Omphalocele OMIM:614450 THRA 7067 HP:0001903 Anemia OMIM:614450 THRA 7067 HP:0000684 Delayed eruption of teeth OMIM:614450 THRA 7067 HP:0001374 Congenital hip dislocation OMIM:614450 THRA 7067 HP:0000851 Congenital hypothyroidism OMIM:614450 THRA 7067 HP:0000158 Macroglossia OMIM:106210 PAX6 5080 HP:0000501 Glaucoma OMIM:106210 PAX6 5080 HP:0001103 Abnormality of the macula OMIM:106210 PAX6 5080 HP:0008053 Aplasia/Hypoplasia of the iris OMIM:106210 PAX6 5080 HP:0007750 Hypoplasia of the fovea OMIM:106210 PAX6 5080 HP:0000006 Autosomal dominant inheritance OMIM:106210 PAX6 5080 HP:0000518 Cataract OMIM:106210 PAX6 5080 HP:0000639 Nystagmus OMIM:106210 PAX6 5080 HP:0007759 Opacification of the corneal stroma OMIM:106210 PAX6 5080 HP:0000526 Aniridia OMIM:106210 PAX6 5080 HP:0000609 Optic nerve hypoplasia OMIM:106210 PAX6 5080 HP:0000505 Visual impairment OMIM:106210 ELP4 26610 HP:0000501 Glaucoma OMIM:106210 ELP4 26610 HP:0001103 Abnormality of the macula OMIM:106210 ELP4 26610 HP:0008053 Aplasia/Hypoplasia of the iris OMIM:106210 ELP4 26610 HP:0007750 Hypoplasia of the fovea OMIM:106210 ELP4 26610 HP:0000006 Autosomal dominant inheritance OMIM:106210 ELP4 26610 HP:0000518 Cataract OMIM:106210 ELP4 26610 HP:0000639 Nystagmus OMIM:106210 ELP4 26610 HP:0007759 Opacification of the corneal stroma OMIM:106210 ELP4 26610 HP:0000526 Aniridia OMIM:106210 ELP4 26610 HP:0000609 Optic nerve hypoplasia OMIM:106210 ELP4 26610 HP:0000505 Visual impairment OMIM:616221 ITGB6 3694 HP:0000705 Amelogenesis imperfecta OMIM:616221 ITGB6 3694 HP:0009102 Anterior open-bite malocclusion OMIM:616221 ITGB6 3694 HP:0006286 Yellow-brown discoloration of the teeth OMIM:616221 ITGB6 3694 HP:0006297 Hypoplasia of dental enamel OMIM:616221 ITGB6 3694 HP:0000007 Autosomal recessive inheritance OMIM:616221 ITGB6 3694 HP:0009722 Dental enamel pits OMIM:300049 FLNA 2316 HP:0003256 Abnormality of the coagulation cascade OMIM:300049 FLNA 2316 HP:0002282 Heterotopia OMIM:300049 FLNA 2316 HP:0001643 Patent ductus arteriosus OMIM:300049 FLNA 2316 HP:0001297 Stroke OMIM:300049 FLNA 2316 HP:0001256 Intellectual disability, mild OMIM:300049 FLNA 2316 HP:0001423 X-linked dominant inheritance OMIM:300049 FLNA 2316 HP:0001647 Bicuspid aortic valve OMIM:300049 FLNA 2316 HP:0002269 Abnormality of neuronal migration OMIM:300049 FLNA 2316 HP:0001250 Seizures OMIM:243300 ATP8B1 5205 HP:0001046 Intermittent jaundice OMIM:243300 ATP8B1 5205 HP:0002613 Biliary cirrhosis OMIM:243300 ATP8B1 5205 HP:0001406 Intrahepatic cholestasis OMIM:243300 ATP8B1 5205 HP:0000989 Pruritus OMIM:243300 ATP8B1 5205 HP:0002908 Conjugated hyperbilirubinemia OMIM:243300 ATP8B1 5205 HP:0001733 Pancreatitis OMIM:243300 ATP8B1 5205 HP:0002240 Hepatomegaly OMIM:243300 ATP8B1 5205 HP:0000007 Autosomal recessive inheritance OMIM:605289 TP63 8626 HP:0100257 Ectrodactyly OMIM:605289 TP63 8626 HP:0001159 Syndactyly OMIM:605289 TP63 8626 HP:0001964 Aplasia/Hypoplasia of metatarsal bones OMIM:605289 TP63 8626 HP:0001171 Split hand OMIM:605289 TP63 8626 HP:0010173 Aplasia/Hypoplasia of the phalanges of the toes OMIM:605289 TP63 8626 HP:0009767 Aplasia/Hypoplasia of the phalanges of the hand OMIM:605289 TP63 8626 HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones OMIM:605289 TP63 8626 HP:0000006 Autosomal dominant inheritance OMIM:225320 COL1A2 1278 HP:0001653 Mitral regurgitation OMIM:225320 COL1A2 1278 HP:0000767 Pectus excavatum OMIM:225320 COL1A2 1278 HP:0000974 Hyperextensible skin OMIM:225320 COL1A2 1278 HP:0000977 Soft skin OMIM:225320 COL1A2 1278 HP:0001659 Aortic regurgitation OMIM:225320 COL1A2 1278 HP:0002816 Genu recurvatum OMIM:225320 COL1A2 1278 HP:0001388 Joint laxity OMIM:225320 COL1A2 1278 HP:0001848 Calcaneovalgus deformity OMIM:225320 COL1A2 1278 HP:0001763 Pes planus OMIM:225320 COL1A2 1278 HP:0000007 Autosomal recessive inheritance OMIM:225320 COL1A2 1278 HP:0000978 Bruising susceptibility OMIM:225320 COL1A2 1278 HP:0000023 Inguinal hernia OMIM:225320 COL1A2 1278 HP:0001075 Atrophic scars OMIM:225320 COL1A2 1278 HP:0001634 Mitral valve prolapse OMIM:225320 COL1A2 1278 HP:0000963 Thin skin OMIM:149730 FGF10 2255 HP:0000337 Broad forehead OMIM:149730 FGF10 2255 HP:0009944 Partial duplication of thumb phalanx OMIM:149730 FGF10 2255 HP:0006297 Hypoplasia of dental enamel OMIM:149730 FGF10 2255 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:149730 FGF10 2255 HP:0004209 Clinodactyly of the 5th finger OMIM:149730 FGF10 2255 HP:0000772 Abnormality of the ribs OMIM:149730 FGF10 2255 HP:0008743 Coronal hypospadias OMIM:149730 FGF10 2255 HP:0009906 Aplasia/Hypoplasia of the earlobes OMIM:149730 FGF10 2255 HP:0000104 Renal agenesis OMIM:149730 FGF10 2255 HP:0007732 Lacrimal gland hypoplasia OMIM:149730 FGF10 2255 HP:0000974 Hyperextensible skin OMIM:149730 FGF10 2255 HP:0009741 Nephrosclerosis OMIM:149730 FGF10 2255 HP:0000670 Carious teeth OMIM:149730 FGF10 2255 HP:0005707 Bilateral triphalangeal thumbs OMIM:149730 FGF10 2255 HP:0007900 Hypoplastic lacrimal duct OMIM:149730 FGF10 2255 HP:0009738 Abnormality of the antihelix OMIM:149730 FGF10 2255 HP:0000405 Conductive hearing impairment OMIM:149730 FGF10 2255 HP:0000506 Telecanthus OMIM:149730 FGF10 2255 HP:0008678 Renal hypoplasia/aplasia OMIM:149730 FGF10 2255 HP:0000410 Mixed hearing impairment OMIM:149730 FGF10 2255 HP:0000198 Absence of Stensen duct OMIM:149730 FGF10 2255 HP:0000508 Ptosis OMIM:149730 FGF10 2255 HP:0009637 Absent proximal phalanx of thumb OMIM:149730 FGF10 2255 HP:0005105 Abnormal nasal morphology OMIM:149730 FGF10 2255 HP:0001199 Triphalangeal thumb OMIM:149730 FGF10 2255 HP:0000620 Dacrocystitis OMIM:149730 FGF10 2255 HP:0000217 Xerostomia OMIM:149730 FGF10 2255 HP:0000202 Oral cleft OMIM:149730 FGF10 2255 HP:0100533 Inflammatory abnormality of the eye OMIM:149730 FGF10 2255 HP:0009740 Aplasia of the parotid gland OMIM:149730 FGF10 2255 HP:0009804 Reduced number of teeth OMIM:149730 FGF10 2255 HP:0000407 Sensorineural hearing impairment OMIM:149730 FGF10 2255 HP:0006101 Finger syndactyly OMIM:149730 FGF10 2255 HP:0100583 Corneal perforation OMIM:149730 FGF10 2255 HP:0000522 Alacrima OMIM:149730 FGF10 2255 HP:0001092 Absent lacrimal punctum OMIM:149730 FGF10 2255 HP:0003022 Hypoplasia of the ulna OMIM:149730 FGF10 2255 HP:0000006 Autosomal dominant inheritance OMIM:149730 FGF10 2255 HP:0100627 Displacement of the external urethral meatus OMIM:149730 FGF10 2255 HP:0001245 Small thenar eminence OMIM:149730 FGF10 2255 HP:0000453 Choanal atresia OMIM:149730 FGF10 2255 HP:0008572 External ear malformation OMIM:149730 FGF10 2255 HP:0000396 Overfolded helix OMIM:149730 FGF10 2255 HP:0000579 Nasolacrimal duct obstruction OMIM:149730 FGF10 2255 HP:0000679 Taurodontia OMIM:149730 FGF10 2255 HP:0003974 Absent radius OMIM:149730 FGF10 2255 HP:0100499 Tibial deviation of toes OMIM:149730 FGF10 2255 HP:0004059 Radial club hand OMIM:149730 FGF10 2255 HP:0000368 Low-set, posteriorly rotated ears OMIM:149730 FGF10 2255 HP:0100258 Preaxial polydactyly OMIM:149730 FGF10 2255 HP:0007656 Lacrimal gland aplasia OMIM:149730 FGF10 2255 HP:0001233 2-3 finger syndactyly OMIM:149730 FGF10 2255 HP:0000505 Visual impairment OMIM:149730 FGF10 2255 HP:0011065 Conical incisor OMIM:149730 FGF10 2255 HP:0009462 Radial deviation of the 3rd finger OMIM:149730 FGF10 2255 HP:0007892 Hypoplasia of the lacrimal puncta OMIM:149730 FGF10 2255 HP:0000490 Deeply set eye OMIM:149730 FGF10 2255 HP:0002974 Radioulnar synostosis OMIM:149730 FGF10 2255 HP:0000378 Cupped ear OMIM:149730 FGF10 2255 HP:0000112 Nephropathy OMIM:149730 FGF10 2255 HP:0000629 Periorbital fullness OMIM:149730 FGF10 2255 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:149730 FGF10 2255 HP:0001841 Preaxial foot polydactyly OMIM:149730 FGF10 2255 HP:0010286 Abnormality of the salivary glands OMIM:149730 FGF10 2255 HP:0000316 Hypertelorism OMIM:149730 FGF10 2255 HP:0001177 Preaxial hand polydactyly OMIM:149730 FGF10 2255 HP:0000682 Abnormality of dental enamel OMIM:149730 FGF10 2255 HP:0200020 Corneal erosion OMIM:149730 FGF10 2255 HP:0000383 Abnormality of periauricular region OMIM:149730 FGF10 2255 HP:0000668 Hypodontia OMIM:149730 FGF10 2255 HP:0002984 Hypoplasia of the radius OMIM:149730 FGF10 2255 HP:0000494 Downslanted palpebral fissures OMIM:149730 FGF10 2255 HP:0000495 Recurrent corneal erosions OMIM:149730 FGF10 2255 HP:0010055 Broad hallux OMIM:149730 FGF10 2255 HP:0000348 High forehead OMIM:149730 FGF10 2255 HP:0000691 Microdontia OMIM:149730 FGF10 2255 HP:0000347 Micrognathia OMIM:149730 FGF10 2255 HP:0000680 Delayed eruption of primary teeth OMIM:149730 FGFR3 2261 HP:0000337 Broad forehead OMIM:149730 FGFR3 2261 HP:0009944 Partial duplication of thumb phalanx OMIM:149730 FGFR3 2261 HP:0006297 Hypoplasia of dental enamel OMIM:149730 FGFR3 2261 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:149730 FGFR3 2261 HP:0004209 Clinodactyly of the 5th finger OMIM:149730 FGFR3 2261 HP:0000772 Abnormality of the ribs OMIM:149730 FGFR3 2261 HP:0008743 Coronal hypospadias OMIM:149730 FGFR3 2261 HP:0009906 Aplasia/Hypoplasia of the earlobes OMIM:149730 FGFR3 2261 HP:0000104 Renal agenesis OMIM:149730 FGFR3 2261 HP:0007732 Lacrimal gland hypoplasia OMIM:149730 FGFR3 2261 HP:0000974 Hyperextensible skin OMIM:149730 FGFR3 2261 HP:0009741 Nephrosclerosis OMIM:149730 FGFR3 2261 HP:0000670 Carious teeth OMIM:149730 FGFR3 2261 HP:0005707 Bilateral triphalangeal thumbs OMIM:149730 FGFR3 2261 HP:0007900 Hypoplastic lacrimal duct OMIM:149730 FGFR3 2261 HP:0009738 Abnormality of the antihelix OMIM:149730 FGFR3 2261 HP:0000405 Conductive hearing impairment OMIM:149730 FGFR3 2261 HP:0000506 Telecanthus OMIM:149730 FGFR3 2261 HP:0008678 Renal hypoplasia/aplasia OMIM:149730 FGFR3 2261 HP:0000410 Mixed hearing impairment OMIM:149730 FGFR3 2261 HP:0000198 Absence of Stensen duct OMIM:149730 FGFR3 2261 HP:0000508 Ptosis OMIM:149730 FGFR3 2261 HP:0009637 Absent proximal phalanx of thumb OMIM:149730 FGFR3 2261 HP:0005105 Abnormal nasal morphology OMIM:149730 FGFR3 2261 HP:0001199 Triphalangeal thumb OMIM:149730 FGFR3 2261 HP:0000620 Dacrocystitis OMIM:149730 FGFR3 2261 HP:0000217 Xerostomia OMIM:149730 FGFR3 2261 HP:0000202 Oral cleft OMIM:149730 FGFR3 2261 HP:0100533 Inflammatory abnormality of the eye OMIM:149730 FGFR3 2261 HP:0009740 Aplasia of the parotid gland OMIM:149730 FGFR3 2261 HP:0009804 Reduced number of teeth OMIM:149730 FGFR3 2261 HP:0000407 Sensorineural hearing impairment OMIM:149730 FGFR3 2261 HP:0006101 Finger syndactyly OMIM:149730 FGFR3 2261 HP:0100583 Corneal perforation OMIM:149730 FGFR3 2261 HP:0000522 Alacrima OMIM:149730 FGFR3 2261 HP:0001092 Absent lacrimal punctum OMIM:149730 FGFR3 2261 HP:0003022 Hypoplasia of the ulna OMIM:149730 FGFR3 2261 HP:0000006 Autosomal dominant inheritance OMIM:149730 FGFR3 2261 HP:0100627 Displacement of the external urethral meatus OMIM:149730 FGFR3 2261 HP:0001245 Small thenar eminence OMIM:149730 FGFR3 2261 HP:0000453 Choanal atresia OMIM:149730 FGFR3 2261 HP:0008572 External ear malformation OMIM:149730 FGFR3 2261 HP:0000396 Overfolded helix OMIM:149730 FGFR3 2261 HP:0000579 Nasolacrimal duct obstruction OMIM:149730 FGFR3 2261 HP:0000679 Taurodontia OMIM:149730 FGFR3 2261 HP:0003974 Absent radius OMIM:149730 FGFR3 2261 HP:0100499 Tibial deviation of toes OMIM:149730 FGFR3 2261 HP:0004059 Radial club hand OMIM:149730 FGFR3 2261 HP:0000368 Low-set, posteriorly rotated ears OMIM:149730 FGFR3 2261 HP:0100258 Preaxial polydactyly OMIM:149730 FGFR3 2261 HP:0007656 Lacrimal gland aplasia OMIM:149730 FGFR3 2261 HP:0001233 2-3 finger syndactyly OMIM:149730 FGFR3 2261 HP:0000505 Visual impairment OMIM:149730 FGFR3 2261 HP:0011065 Conical incisor OMIM:149730 FGFR3 2261 HP:0009462 Radial deviation of the 3rd finger OMIM:149730 FGFR3 2261 HP:0007892 Hypoplasia of the lacrimal puncta OMIM:149730 FGFR3 2261 HP:0000490 Deeply set eye OMIM:149730 FGFR3 2261 HP:0002974 Radioulnar synostosis OMIM:149730 FGFR3 2261 HP:0000378 Cupped ear OMIM:149730 FGFR3 2261 HP:0000112 Nephropathy OMIM:149730 FGFR3 2261 HP:0000629 Periorbital fullness OMIM:149730 FGFR3 2261 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:149730 FGFR3 2261 HP:0001841 Preaxial foot polydactyly OMIM:149730 FGFR3 2261 HP:0010286 Abnormality of the salivary glands OMIM:149730 FGFR3 2261 HP:0000316 Hypertelorism OMIM:149730 FGFR3 2261 HP:0001177 Preaxial hand polydactyly OMIM:149730 FGFR3 2261 HP:0000682 Abnormality of dental enamel OMIM:149730 FGFR3 2261 HP:0200020 Corneal erosion OMIM:149730 FGFR3 2261 HP:0000383 Abnormality of periauricular region OMIM:149730 FGFR3 2261 HP:0000668 Hypodontia OMIM:149730 FGFR3 2261 HP:0002984 Hypoplasia of the radius OMIM:149730 FGFR3 2261 HP:0000494 Downslanted palpebral fissures OMIM:149730 FGFR3 2261 HP:0000495 Recurrent corneal erosions OMIM:149730 FGFR3 2261 HP:0010055 Broad hallux OMIM:149730 FGFR3 2261 HP:0000348 High forehead OMIM:149730 FGFR3 2261 HP:0000691 Microdontia OMIM:149730 FGFR3 2261 HP:0000347 Micrognathia OMIM:149730 FGFR3 2261 HP:0000680 Delayed eruption of primary teeth OMIM:149730 FGFR2 2263 HP:0000337 Broad forehead OMIM:149730 FGFR2 2263 HP:0009944 Partial duplication of thumb phalanx OMIM:149730 FGFR2 2263 HP:0006297 Hypoplasia of dental enamel OMIM:149730 FGFR2 2263 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:149730 FGFR2 2263 HP:0004209 Clinodactyly of the 5th finger OMIM:149730 FGFR2 2263 HP:0000772 Abnormality of the ribs OMIM:149730 FGFR2 2263 HP:0008743 Coronal hypospadias OMIM:149730 FGFR2 2263 HP:0009906 Aplasia/Hypoplasia of the earlobes OMIM:149730 FGFR2 2263 HP:0000104 Renal agenesis OMIM:149730 FGFR2 2263 HP:0007732 Lacrimal gland hypoplasia OMIM:149730 FGFR2 2263 HP:0000974 Hyperextensible skin OMIM:149730 FGFR2 2263 HP:0009741 Nephrosclerosis OMIM:149730 FGFR2 2263 HP:0000670 Carious teeth OMIM:149730 FGFR2 2263 HP:0005707 Bilateral triphalangeal thumbs OMIM:149730 FGFR2 2263 HP:0007900 Hypoplastic lacrimal duct OMIM:149730 FGFR2 2263 HP:0009738 Abnormality of the antihelix OMIM:149730 FGFR2 2263 HP:0000405 Conductive hearing impairment OMIM:149730 FGFR2 2263 HP:0000506 Telecanthus OMIM:149730 FGFR2 2263 HP:0008678 Renal hypoplasia/aplasia OMIM:149730 FGFR2 2263 HP:0000410 Mixed hearing impairment OMIM:149730 FGFR2 2263 HP:0000198 Absence of Stensen duct OMIM:149730 FGFR2 2263 HP:0000508 Ptosis OMIM:149730 FGFR2 2263 HP:0009637 Absent proximal phalanx of thumb OMIM:149730 FGFR2 2263 HP:0005105 Abnormal nasal morphology OMIM:149730 FGFR2 2263 HP:0001199 Triphalangeal thumb OMIM:149730 FGFR2 2263 HP:0000620 Dacrocystitis OMIM:149730 FGFR2 2263 HP:0000217 Xerostomia OMIM:149730 FGFR2 2263 HP:0000202 Oral cleft OMIM:149730 FGFR2 2263 HP:0100533 Inflammatory abnormality of the eye OMIM:149730 FGFR2 2263 HP:0009740 Aplasia of the parotid gland OMIM:149730 FGFR2 2263 HP:0009804 Reduced number of teeth OMIM:149730 FGFR2 2263 HP:0000407 Sensorineural hearing impairment OMIM:149730 FGFR2 2263 HP:0006101 Finger syndactyly OMIM:149730 FGFR2 2263 HP:0100583 Corneal perforation OMIM:149730 FGFR2 2263 HP:0000522 Alacrima OMIM:149730 FGFR2 2263 HP:0001092 Absent lacrimal punctum OMIM:149730 FGFR2 2263 HP:0003022 Hypoplasia of the ulna OMIM:149730 FGFR2 2263 HP:0000006 Autosomal dominant inheritance OMIM:149730 FGFR2 2263 HP:0100627 Displacement of the external urethral meatus OMIM:149730 FGFR2 2263 HP:0001245 Small thenar eminence OMIM:149730 FGFR2 2263 HP:0000453 Choanal atresia OMIM:149730 FGFR2 2263 HP:0008572 External ear malformation OMIM:149730 FGFR2 2263 HP:0000396 Overfolded helix OMIM:149730 FGFR2 2263 HP:0000579 Nasolacrimal duct obstruction OMIM:149730 FGFR2 2263 HP:0000679 Taurodontia OMIM:149730 FGFR2 2263 HP:0003974 Absent radius OMIM:149730 FGFR2 2263 HP:0100499 Tibial deviation of toes OMIM:149730 FGFR2 2263 HP:0004059 Radial club hand OMIM:149730 FGFR2 2263 HP:0000368 Low-set, posteriorly rotated ears OMIM:149730 FGFR2 2263 HP:0100258 Preaxial polydactyly OMIM:149730 FGFR2 2263 HP:0007656 Lacrimal gland aplasia OMIM:149730 FGFR2 2263 HP:0001233 2-3 finger syndactyly OMIM:149730 FGFR2 2263 HP:0000505 Visual impairment OMIM:149730 FGFR2 2263 HP:0011065 Conical incisor OMIM:149730 FGFR2 2263 HP:0009462 Radial deviation of the 3rd finger OMIM:149730 FGFR2 2263 HP:0007892 Hypoplasia of the lacrimal puncta OMIM:149730 FGFR2 2263 HP:0000490 Deeply set eye OMIM:149730 FGFR2 2263 HP:0002974 Radioulnar synostosis OMIM:149730 FGFR2 2263 HP:0000378 Cupped ear OMIM:149730 FGFR2 2263 HP:0000112 Nephropathy OMIM:149730 FGFR2 2263 HP:0000629 Periorbital fullness OMIM:149730 FGFR2 2263 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:149730 FGFR2 2263 HP:0001841 Preaxial foot polydactyly OMIM:149730 FGFR2 2263 HP:0010286 Abnormality of the salivary glands OMIM:149730 FGFR2 2263 HP:0000316 Hypertelorism OMIM:149730 FGFR2 2263 HP:0001177 Preaxial hand polydactyly OMIM:149730 FGFR2 2263 HP:0000682 Abnormality of dental enamel OMIM:149730 FGFR2 2263 HP:0200020 Corneal erosion OMIM:149730 FGFR2 2263 HP:0000383 Abnormality of periauricular region OMIM:149730 FGFR2 2263 HP:0000668 Hypodontia OMIM:149730 FGFR2 2263 HP:0002984 Hypoplasia of the radius OMIM:149730 FGFR2 2263 HP:0000494 Downslanted palpebral fissures OMIM:149730 FGFR2 2263 HP:0000495 Recurrent corneal erosions OMIM:149730 FGFR2 2263 HP:0010055 Broad hallux OMIM:149730 FGFR2 2263 HP:0000348 High forehead OMIM:149730 FGFR2 2263 HP:0000691 Microdontia OMIM:149730 FGFR2 2263 HP:0000347 Micrognathia OMIM:149730 FGFR2 2263 HP:0000680 Delayed eruption of primary teeth OMIM:191160 TNF 7124 HP:0002664 Neoplasm OMIM:191160 TNF 7124 HP:0000007 Autosomal recessive inheritance OMIM:191160 TNF 7124 HP:0001939 Abnormality of metabolism/homeostasis OMIM:300068 AR 367 HP:0002225 Sparse pubic hair OMIM:300068 AR 367 HP:0001419 X-linked recessive inheritance OMIM:300068 AR 367 HP:0000786 Primary amenorrhea OMIM:300068 AR 367 HP:0008232 Elevated follicle stimulating hormone OMIM:300068 AR 367 HP:0002664 Neoplasm OMIM:300068 AR 367 HP:0001507 Growth abnormality OMIM:300068 AR 367 HP:0002215 Sparse axillary hair OMIM:300068 AR 367 HP:0000023 Inguinal hernia OMIM:300068 AR 367 HP:0002550 Absent facial hair OMIM:300068 AR 367 HP:0000771 Gynecomastia OMIM:300068 AR 367 HP:0008730 Female external genitalia in individual with 46,XY karyotype OMIM:300068 AR 367 HP:0011969 Elevated luteinizing hormone OMIM:613074 MIR96 407053 HP:0000006 Autosomal dominant inheritance OMIM:613074 MIR96 407053 HP:0000407 Sensorineural hearing impairment OMIM:613074 MIR96 407053 HP:0001730 Progressive hearing impairment OMIM:613758 SAG 6295 HP:0000505 Visual impairment OMIM:613758 SAG 6295 HP:0000007 Autosomal recessive inheritance OMIM:613758 SAG 6295 HP:0000662 Night blindness OMIM:613758 SAG 6295 HP:0001146 Pigmentary retinal degeneration OMIM:613758 SAG 6295 HP:0000533 Chorioretinal atrophy OMIM:613758 SAG 6295 HP:0000510 Retinitis pigmentosa OMIM:613758 SAG 6295 HP:0000654 Decreased electroretinogram (ERG) amplitude OMIM:611722 PSAP 5660 HP:0001265 Hyporeflexia OMIM:611722 PSAP 5660 HP:0002878 Respiratory failure OMIM:611722 PSAP 5660 HP:0003819 Death in childhood OMIM:611722 PSAP 5660 HP:0002871 Central apnea OMIM:611722 PSAP 5660 HP:0000007 Autosomal recessive inheritance OMIM:611722 PSAP 5660 HP:0007266 Cerebral dysmyelination OMIM:611722 PSAP 5660 HP:0003593 Infantile onset OMIM:611722 PSAP 5660 HP:0002283 Global brain atrophy OMIM:611722 PSAP 5660 HP:0001276 Hypertonia OMIM:611722 PSAP 5660 HP:0002922 Increased CSF protein OMIM:167800 PRSS1 5644 HP:0002027 Abdominal pain OMIM:167800 PRSS1 5644 HP:0000819 Diabetes mellitus OMIM:167800 PRSS1 5644 HP:0001977 Abnormal thrombosis OMIM:167800 PRSS1 5644 HP:0001733 Pancreatitis OMIM:167800 PRSS1 5644 HP:0005206 Pancreatic pseudocyst OMIM:167800 PRSS1 5644 HP:0001738 Exocrine pancreatic insufficiency OMIM:167800 PRSS1 5644 HP:0002570 Steatorrhea OMIM:167800 PRSS1 5644 HP:0000006 Autosomal dominant inheritance OMIM:167800 PRSS1 5644 HP:0002202 Pleural effusion OMIM:167800 PRSS1 5644 HP:0005213 Pancreatic calcification OMIM:167800 PRSS1 5644 HP:0001945 Fever OMIM:167800 SPINK1 6690 HP:0002027 Abdominal pain OMIM:167800 SPINK1 6690 HP:0000819 Diabetes mellitus OMIM:167800 SPINK1 6690 HP:0001977 Abnormal thrombosis OMIM:167800 SPINK1 6690 HP:0001733 Pancreatitis OMIM:167800 SPINK1 6690 HP:0005206 Pancreatic pseudocyst OMIM:167800 SPINK1 6690 HP:0001738 Exocrine pancreatic insufficiency OMIM:167800 SPINK1 6690 HP:0002570 Steatorrhea OMIM:167800 SPINK1 6690 HP:0000006 Autosomal dominant inheritance OMIM:167800 SPINK1 6690 HP:0002202 Pleural effusion OMIM:167800 SPINK1 6690 HP:0005213 Pancreatic calcification OMIM:167800 SPINK1 6690 HP:0001945 Fever OMIM:311300 FLNA 2316 HP:0002007 Frontal bossing OMIM:311300 FLNA 2316 HP:0002687 Abnormality of the frontal sinuses OMIM:311300 FLNA 2316 HP:0006487 Bowing of the long bones OMIM:311300 FLNA 2316 HP:0000494 Downslanted palpebral fissures OMIM:311300 FLNA 2316 HP:0012368 Flat face OMIM:311300 FLNA 2316 HP:0010109 Short hallux OMIM:311300 FLNA 2316 HP:0010044 Short 4th metacarpal OMIM:311300 FLNA 2316 HP:0009882 Short distal phalanx of finger OMIM:311300 FLNA 2316 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:311300 FLNA 2316 HP:0000767 Pectus excavatum OMIM:311300 FLNA 2316 HP:0001782 Bulbous tips of toes OMIM:311300 FLNA 2316 HP:0000175 Cleft palate OMIM:311300 FLNA 2316 HP:0002164 Nail dysplasia OMIM:311300 FLNA 2316 HP:0003196 Short nose OMIM:311300 FLNA 2316 HP:0005048 Synostosis of carpal bones OMIM:311300 FLNA 2316 HP:0009623 Proximal placement of thumb OMIM:311300 FLNA 2316 HP:0006389 Limited knee flexion OMIM:311300 FLNA 2316 HP:0005090 Lateral femoral bowing OMIM:311300 FLNA 2316 HP:0000405 Conductive hearing impairment OMIM:311300 FLNA 2316 HP:0001377 Limited elbow extension OMIM:311300 FLNA 2316 HP:0003083 Dislocated radial head OMIM:311300 FLNA 2316 HP:0000160 Narrow mouth OMIM:311300 FLNA 2316 HP:0011001 Increased bone mineral density OMIM:311300 FLNA 2316 HP:0000431 Wide nasal bridge OMIM:311300 FLNA 2316 HP:0000366 Abnormality of the nose OMIM:311300 FLNA 2316 HP:0004232 Accessory carpal bones OMIM:311300 FLNA 2316 HP:0000272 Malar flattening OMIM:311300 FLNA 2316 HP:0001852 Sandal gap OMIM:311300 FLNA 2316 HP:0001770 Toe syndactyly OMIM:311300 FLNA 2316 HP:0004493 Craniofacial hyperostosis OMIM:311300 FLNA 2316 HP:0001256 Intellectual disability, mild OMIM:311300 FLNA 2316 HP:0001241 Capitate-hamate fusion OMIM:311300 FLNA 2316 HP:0003042 Elbow dislocation OMIM:311300 FLNA 2316 HP:0001156 Brachydactyly syndrome OMIM:311300 FLNA 2316 HP:0002673 Coxa valga OMIM:311300 FLNA 2316 HP:0001476 Delayed closure of the anterior fontanelle OMIM:311300 FLNA 2316 HP:0001376 Limitation of joint mobility OMIM:311300 FLNA 2316 HP:0008089 Abnormality of the fifth metatarsal bone OMIM:311300 FLNA 2316 HP:0002737 Thick skull base OMIM:311300 FLNA 2316 HP:0001539 Omphalocele OMIM:311300 FLNA 2316 HP:0008404 Nail dystrophy OMIM:311300 FLNA 2316 HP:0002688 Absent frontal sinuses OMIM:311300 FLNA 2316 HP:0008127 Bipartite calcaneus OMIM:311300 FLNA 2316 HP:0000316 Hypertelorism OMIM:311300 FLNA 2316 HP:0009642 Broad distal phalanx of the thumb OMIM:311300 FLNA 2316 HP:0000269 Prominent occiput OMIM:311300 FLNA 2316 HP:0000336 Prominent supraorbital ridges OMIM:311300 FLNA 2316 HP:0009804 Reduced number of teeth OMIM:311300 FLNA 2316 HP:0001423 X-linked dominant inheritance OMIM:311300 FLNA 2316 HP:0002827 Hip dislocation OMIM:311300 FLNA 2316 HP:0000365 Hearing impairment OMIM:311300 FLNA 2316 HP:0010055 Broad hallux OMIM:311300 FLNA 2316 HP:0010047 Short 5th metacarpal OMIM:311300 FLNA 2316 HP:0010041 Short 3rd metacarpal OMIM:311300 FLNA 2316 HP:0001571 Multiple impacted teeth OMIM:311300 FLNA 2316 HP:0001592 Selective tooth agenesis OMIM:311300 FLNA 2316 HP:0002650 Scoliosis OMIM:311300 FLNA 2316 HP:0008368 Tarsal synostosis OMIM:311300 FLNA 2316 HP:0004322 Short stature OMIM:305100 EDA 1896 HP:0002557 Hypoplastic nipples OMIM:305100 EDA 1896 HP:0002299 Brittle hair OMIM:305100 EDA 1896 HP:0000653 Sparse eyelashes OMIM:305100 EDA 1896 HP:0001945 Fever OMIM:305100 EDA 1896 HP:0011830 Abnormality of oral mucosa OMIM:305100 EDA 1896 HP:0000966 Hypohidrosis OMIM:305100 EDA 1896 HP:0002561 Absent nipple OMIM:305100 EDA 1896 HP:0001609 Hoarse voice OMIM:305100 EDA 1896 HP:0002007 Frontal bossing OMIM:305100 EDA 1896 HP:0001598 Concave nail OMIM:305100 EDA 1896 HP:0001618 Dysphonia OMIM:305100 EDA 1896 HP:0000607 Periorbital wrinkles OMIM:305100 EDA 1896 HP:0000691 Microdontia OMIM:305100 EDA 1896 HP:0007592 Aplasia/Hypoplastia of the eccrine sweat glands OMIM:305100 EDA 1896 HP:0002046 Heat intolerance OMIM:305100 EDA 1896 HP:0009882 Short distal phalanx of finger OMIM:305100 EDA 1896 HP:0000331 Short chin OMIM:305100 EDA 1896 HP:0001006 Hypotrichosis OMIM:305100 EDA 1896 HP:0000977 Soft skin OMIM:305100 EDA 1896 HP:0011362 Abnormal hair quantity OMIM:305100 EDA 1896 HP:0000963 Thin skin OMIM:305100 EDA 1896 HP:0000668 Hypodontia OMIM:305100 EDA 1896 HP:0000430 Underdeveloped nasal alae OMIM:305100 EDA 1896 HP:0002880 Respiratory difficulties OMIM:305100 EDA 1896 HP:0007607 Hypohidrotic ectodermal dysplasia OMIM:305100 EDA 1896 HP:0000336 Prominent supraorbital ridges OMIM:305100 EDA 1896 HP:0007411 Hypoplastic-absent sebaceous glands OMIM:305100 EDA 1896 HP:0002223 Absent eyebrow OMIM:305100 EDA 1896 HP:0001425 Heterogeneous OMIM:305100 EDA 1896 HP:0000830 Anterior hypopituitarism OMIM:305100 EDA 1896 HP:0000822 Hypertension OMIM:305100 EDA 1896 HP:0000679 Taurodontia OMIM:305100 EDA 1896 HP:0000232 Everted lower lip vermilion OMIM:305100 EDA 1896 HP:0010803 Everted upper lip vermilion OMIM:305100 EDA 1896 HP:0003196 Short nose OMIM:305100 EDA 1896 HP:0000457 Depressed nasal ridge OMIM:305100 EDA 1896 HP:0005280 Depressed nasal bridge OMIM:305100 EDA 1896 HP:0000958 Dry skin OMIM:305100 EDA 1896 HP:0000535 Sparse eyebrow OMIM:305100 EDA 1896 HP:0000698 Conical tooth OMIM:305100 EDA 1896 HP:0000964 Eczema OMIM:305100 EDA 1896 HP:0001106 Periorbital hyperpigmentation OMIM:305100 EDA 1896 HP:0000684 Delayed eruption of teeth OMIM:305100 EDA 1896 HP:0100651 Type I diabetes mellitus OMIM:305100 EDA 1896 HP:0000327 Hypoplasia of the maxilla OMIM:305100 EDA 1896 HP:0012471 Thick vermilion border OMIM:305100 EDA 1896 HP:0000970 Anhidrosis OMIM:305100 EDA 1896 HP:0001419 X-linked recessive inheritance OMIM:613743 CYP11A1 1583 HP:0012245 Sex reversal OMIM:613743 CYP11A1 1583 HP:0011749 Adrenocorticotropic hormone excess OMIM:613743 CYP11A1 1583 HP:0000127 Renal salt wasting OMIM:613743 CYP11A1 1583 HP:0000953 Hyperpigmentation of the skin OMIM:613743 CYP11A1 1583 HP:0000846 Adrenal insufficiency OMIM:613743 CYP11A1 1583 HP:0000859 Hyperaldosteronism OMIM:609924 ACY1 95 HP:0001250 Seizures OMIM:609924 ACY1 95 HP:0002059 Cerebral atrophy OMIM:609924 ACY1 95 HP:0001324 Muscle weakness OMIM:609924 ACY1 95 HP:0000752 Hyperactivity OMIM:609924 ACY1 95 HP:0001263 Global developmental delay OMIM:609924 ACY1 95 HP:0000007 Autosomal recessive inheritance OMIM:609924 ACY1 95 HP:0001272 Cerebellar atrophy OMIM:609924 ACY1 95 HP:0001252 Muscular hypotonia OMIM:609924 ACY1 95 HP:0000316 Hypertelorism OMIM:609924 ACY1 95 HP:0002188 Delayed CNS myelination OMIM:609924 ACY1 95 HP:0000407 Sensorineural hearing impairment OMIM:609924 ACY1 95 HP:0006846 Acute encephalopathy OMIM:609924 ACY1 95 HP:0003812 Phenotypic variability OMIM:609924 ACY1 95 HP:0000431 Wide nasal bridge OMIM:224410 HSPG2 3339 HP:0001631 Defect in the atrial septum OMIM:224410 HSPG2 3339 HP:0001537 Umbilical hernia OMIM:224410 HSPG2 3339 HP:0000175 Cleft palate OMIM:224410 HSPG2 3339 HP:0003026 Short long bone OMIM:224410 HSPG2 3339 HP:0002089 Pulmonary hypoplasia OMIM:224410 HSPG2 3339 HP:0001762 Talipes equinovarus OMIM:224410 HSPG2 3339 HP:0004322 Short stature OMIM:224410 HSPG2 3339 HP:0000347 Micrognathia OMIM:224410 HSPG2 3339 HP:0006487 Bowing of the long bones OMIM:224410 HSPG2 3339 HP:0000774 Narrow chest OMIM:224410 HSPG2 3339 HP:0003811 Neonatal death OMIM:224410 HSPG2 3339 HP:0000457 Depressed nasal ridge OMIM:224410 HSPG2 3339 HP:0001376 Limitation of joint mobility OMIM:224410 HSPG2 3339 HP:0000592 Blue sclerae OMIM:224410 HSPG2 3339 HP:0000431 Wide nasal bridge OMIM:224410 HSPG2 3339 HP:0008873 Disproportionate short-limb short stature OMIM:224410 HSPG2 3339 HP:0000028 Cryptorchidism OMIM:224410 HSPG2 3339 HP:0002983 Micromelia OMIM:224410 HSPG2 3339 HP:0012368 Flat face OMIM:224410 HSPG2 3339 HP:0000007 Autosomal recessive inheritance OMIM:224410 HSPG2 3339 HP:0002093 Respiratory insufficiency OMIM:224410 HSPG2 3339 HP:0001362 Skull defect OMIM:224410 HSPG2 3339 HP:0004298 Abnormality of the abdominal wall OMIM:224410 HSPG2 3339 HP:0002879 Anisospondyly OMIM:224410 HSPG2 3339 HP:0000358 Posteriorly rotated ears OMIM:224410 HSPG2 3339 HP:0001548 Overgrowth OMIM:224410 HSPG2 3339 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:224410 HSPG2 3339 HP:0005257 Thoracic hypoplasia OMIM:224410 HSPG2 3339 HP:0003312 Abnormal form of the vertebral bodies OMIM:224410 HSPG2 3339 HP:0000272 Malar flattening OMIM:224410 HSPG2 3339 HP:0000160 Narrow mouth OMIM:224410 HSPG2 3339 HP:0000944 Abnormality of the metaphyses ORPHANET:226307 HESX1 8820 HP:0004322 Short stature ORPHANET:226307 HESX1 8820 HP:0001252 Muscular hypotonia ORPHANET:226307 HESX1 8820 HP:0000830 Anterior hypopituitarism ORPHANET:226307 HESX1 8820 HP:0002360 Sleep disturbance ORPHANET:226307 HESX1 8820 HP:0001392 Abnormality of the liver ORPHANET:226307 HESX1 8820 HP:0001537 Umbilical hernia ORPHANET:226307 HESX1 8820 HP:0100543 Cognitive impairment ORPHANET:226307 HESX1 8820 HP:0100842 Septo-optic dysplasia ORPHANET:226307 HESX1 8820 HP:0000202 Oral cleft ORPHANET:226307 HESX1 8820 HP:0000821 Hypothyroidism ORPHANET:226307 HESX1 8820 HP:0000280 Coarse facial features ORPHANET:226307 HESX1 8820 HP:0002019 Constipation ORPHANET:226307 HESX1 8820 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:226307 HESX1 8820 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:226307 POU1F1 5449 HP:0004322 Short stature ORPHANET:226307 POU1F1 5449 HP:0001252 Muscular hypotonia ORPHANET:226307 POU1F1 5449 HP:0000830 Anterior hypopituitarism ORPHANET:226307 POU1F1 5449 HP:0002360 Sleep disturbance ORPHANET:226307 POU1F1 5449 HP:0001392 Abnormality of the liver ORPHANET:226307 POU1F1 5449 HP:0001537 Umbilical hernia ORPHANET:226307 POU1F1 5449 HP:0100543 Cognitive impairment ORPHANET:226307 POU1F1 5449 HP:0100842 Septo-optic dysplasia ORPHANET:226307 POU1F1 5449 HP:0000202 Oral cleft ORPHANET:226307 POU1F1 5449 HP:0000821 Hypothyroidism ORPHANET:226307 POU1F1 5449 HP:0000280 Coarse facial features ORPHANET:226307 POU1F1 5449 HP:0002019 Constipation ORPHANET:226307 POU1F1 5449 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:226307 POU1F1 5449 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:226307 LHX4 89884 HP:0004322 Short stature ORPHANET:226307 LHX4 89884 HP:0001252 Muscular hypotonia ORPHANET:226307 LHX4 89884 HP:0000830 Anterior hypopituitarism ORPHANET:226307 LHX4 89884 HP:0002360 Sleep disturbance ORPHANET:226307 LHX4 89884 HP:0001392 Abnormality of the liver ORPHANET:226307 LHX4 89884 HP:0001537 Umbilical hernia ORPHANET:226307 LHX4 89884 HP:0100543 Cognitive impairment ORPHANET:226307 LHX4 89884 HP:0100842 Septo-optic dysplasia ORPHANET:226307 LHX4 89884 HP:0000202 Oral cleft ORPHANET:226307 LHX4 89884 HP:0000821 Hypothyroidism ORPHANET:226307 LHX4 89884 HP:0000280 Coarse facial features ORPHANET:226307 LHX4 89884 HP:0002019 Constipation ORPHANET:226307 LHX4 89884 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:226307 LHX4 89884 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:226307 LHX3 8022 HP:0004322 Short stature ORPHANET:226307 LHX3 8022 HP:0001252 Muscular hypotonia ORPHANET:226307 LHX3 8022 HP:0000830 Anterior hypopituitarism ORPHANET:226307 LHX3 8022 HP:0002360 Sleep disturbance ORPHANET:226307 LHX3 8022 HP:0001392 Abnormality of the liver ORPHANET:226307 LHX3 8022 HP:0001537 Umbilical hernia ORPHANET:226307 LHX3 8022 HP:0100543 Cognitive impairment ORPHANET:226307 LHX3 8022 HP:0100842 Septo-optic dysplasia ORPHANET:226307 LHX3 8022 HP:0000202 Oral cleft ORPHANET:226307 LHX3 8022 HP:0000821 Hypothyroidism ORPHANET:226307 LHX3 8022 HP:0000280 Coarse facial features ORPHANET:226307 LHX3 8022 HP:0002019 Constipation ORPHANET:226307 LHX3 8022 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:226307 LHX3 8022 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:226307 PROP1 5626 HP:0004322 Short stature ORPHANET:226307 PROP1 5626 HP:0001252 Muscular hypotonia ORPHANET:226307 PROP1 5626 HP:0000830 Anterior hypopituitarism ORPHANET:226307 PROP1 5626 HP:0002360 Sleep disturbance ORPHANET:226307 PROP1 5626 HP:0001392 Abnormality of the liver ORPHANET:226307 PROP1 5626 HP:0001537 Umbilical hernia ORPHANET:226307 PROP1 5626 HP:0100543 Cognitive impairment ORPHANET:226307 PROP1 5626 HP:0100842 Septo-optic dysplasia ORPHANET:226307 PROP1 5626 HP:0000202 Oral cleft ORPHANET:226307 PROP1 5626 HP:0000821 Hypothyroidism ORPHANET:226307 PROP1 5626 HP:0000280 Coarse facial features ORPHANET:226307 PROP1 5626 HP:0002019 Constipation ORPHANET:226307 PROP1 5626 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:226307 PROP1 5626 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:612370 CHD7 55636 HP:0000458 Anosmia OMIM:612370 CHD7 55636 HP:0000006 Autosomal dominant inheritance OMIM:612370 CHD7 55636 HP:0000044 Hypogonadotrophic hypogonadism OMIM:600962 KRT1 3848 HP:0000006 Autosomal dominant inheritance OMIM:600962 KRT1 3848 HP:0007404 Nonepidermolytic palmoplantar keratoderma OMIM:614652 PDSS2 57107 HP:0100704 Cortical visual impairment OMIM:614652 PDSS2 57107 HP:0000007 Autosomal recessive inheritance OMIM:614652 PDSS2 57107 HP:0002151 Increased serum lactate OMIM:614652 PDSS2 57107 HP:0002133 Status epilepticus OMIM:614652 PDSS2 57107 HP:0000100 Nephrotic syndrome OMIM:614652 PDSS2 57107 HP:0001319 Neonatal hypotonia OMIM:614652 PDSS2 57107 HP:0000969 Edema OMIM:614652 PDSS2 57107 HP:0000093 Proteinuria OMIM:614652 PDSS2 57107 HP:0011968 Feeding difficulties OMIM:300835 GATA1 2623 HP:0003593 Infantile onset OMIM:300835 GATA1 2623 HP:0001419 X-linked recessive inheritance OMIM:300835 GATA1 2623 HP:0004445 Elliptocytosis OMIM:300835 GATA1 2623 HP:0001875 Neutropenia OMIM:300835 GATA1 2623 HP:0001900 Increased hemoglobin OMIM:300835 GATA1 2623 HP:0012135 Abnormality of cells of the granulocytic lineage OMIM:300835 GATA1 2623 HP:0003540 Impaired platelet aggregation OMIM:300835 GATA1 2623 HP:0011273 Anisocytosis OMIM:300835 GATA1 2623 HP:0004312 Abnormality of reticulocytes OMIM:300835 GATA1 2623 HP:0001873 Thrombocytopenia OMIM:300835 GATA1 2623 HP:0011875 Abnormal platelet morphology OMIM:300835 GATA1 2623 HP:0001972 Macrocytic anemia OMIM:300835 GATA1 2623 HP:0003828 Variable expressivity OMIM:615862 CEP83 51134 HP:0001249 Intellectual disability OMIM:615862 CEP83 51134 HP:0001970 Tubulointerstitial nephritis OMIM:615862 CEP83 51134 HP:0000092 Tubular atrophy OMIM:615862 CEP83 51134 HP:0004722 Thickening of the glomerular basement membrane OMIM:615862 CEP83 51134 HP:0003774 Stage 5 chronic kidney disease OMIM:615862 CEP83 51134 HP:0006580 Portal fibrosis OMIM:615862 CEP83 51134 HP:0001396 Cholestasis OMIM:615862 CEP83 51134 HP:0000090 Nephronophthisis OMIM:615862 CEP83 51134 HP:0000486 Strabismus OMIM:615862 CEP83 51134 HP:0000238 Hydrocephalus OMIM:245900 LCAT 3931 HP:0003233 Hypoalphalipoproteinemia OMIM:245900 LCAT 3931 HP:0000083 Renal insufficiency OMIM:245900 LCAT 3931 HP:0000007 Autosomal recessive inheritance OMIM:245900 LCAT 3931 HP:0001895 Normochromic anemia OMIM:245900 LCAT 3931 HP:0007759 Opacification of the corneal stroma OMIM:245900 LCAT 3931 HP:0001878 Hemolytic anemia OMIM:245900 LCAT 3931 HP:0000093 Proteinuria OMIM:245900 LCAT 3931 HP:0002155 Hypertriglyceridemia OMIM:208900 ATM 472 HP:0000246 Sinusitis OMIM:208900 ATM 472 HP:0012539 Non-Hodgkin lymphoma OMIM:208900 ATM 472 HP:0001266 Choreoathetosis OMIM:208900 ATM 472 HP:0001336 Myoclonus OMIM:208900 ATM 472 HP:0001260 Dysarthria OMIM:208900 ATM 472 HP:0000524 Conjunctival telangiectasia OMIM:208900 ATM 472 HP:0001251 Ataxia OMIM:208900 ATM 472 HP:0000819 Diabetes mellitus OMIM:208900 ATM 472 HP:0006254 Elevated alpha-fetoprotein OMIM:208900 ATM 472 HP:0008348 Immunoglobulin IgG2 deficiency OMIM:208900 ATM 472 HP:0002720 IgA deficiency OMIM:208900 ATM 472 HP:0005357 Defective B cell differentiation OMIM:208900 ATM 472 HP:0002110 Bronchiectasis OMIM:208900 ATM 472 HP:0002837 Recurrent bronchitis OMIM:208900 ATM 472 HP:0001595 Abnormality of the hair OMIM:208900 ATM 472 HP:0000486 Strabismus OMIM:208900 ATM 472 HP:0001337 Tremor OMIM:208900 ATM 472 HP:0008669 Abnormal spermatogenesis OMIM:208900 ATM 472 HP:0012189 Hodgkin lymphoma OMIM:208900 ATM 472 HP:0001909 Leukemia OMIM:208900 ATM 472 HP:0000778 Hypoplasia of the thymus OMIM:208900 ATM 472 HP:0000957 Cafe-au-lait spot OMIM:208900 ATM 472 HP:0001250 Seizures OMIM:208900 ATM 472 HP:0000639 Nystagmus OMIM:208900 ATM 472 HP:0001315 Reduced tendon reflexes OMIM:208900 ATM 472 HP:0001888 Lymphopenia OMIM:208900 ATM 472 HP:0004322 Short stature OMIM:208900 ATM 472 HP:0005407 Decreased number of CD4+ T cells OMIM:208900 ATM 472 HP:0000007 Autosomal recessive inheritance OMIM:208900 ATM 472 HP:0000134 Female hypogonadism OMIM:208900 ATM 472 HP:0001332 Dystonia OMIM:208900 ATM 472 HP:0000833 Glucose intolerance OMIM:208900 ATM 472 HP:0000823 Delayed puberty OMIM:175900 MVK 4598 HP:0200044 Porokeratosis OMIM:175900 MVK 4598 HP:0000006 Autosomal dominant inheritance OMIM:214450 MYO5A 4644 HP:0002220 Melanin pigment aggregation in hair shafts OMIM:214450 MYO5A 4644 HP:0001250 Seizures OMIM:214450 MYO5A 4644 HP:0001008 Accumulation of melanosomes in melanocytes OMIM:214450 MYO5A 4644 HP:0001010 Hypopigmentation of the skin OMIM:214450 MYO5A 4644 HP:0000639 Nystagmus OMIM:214450 MYO5A 4644 HP:0100543 Cognitive impairment OMIM:214450 MYO5A 4644 HP:0002216 Premature graying of hair OMIM:214450 MYO5A 4644 HP:0100022 Abnormality of movement OMIM:214450 MYO5A 4644 HP:0007513 Generalized hypopigmentation OMIM:214450 MYO5A 4644 HP:0002218 Silver-gray hair OMIM:214450 MYO5A 4644 HP:0001276 Hypertonia OMIM:214450 MYO5A 4644 HP:0002514 Cerebral calcification OMIM:214450 MYO5A 4644 HP:0002311 Incoordination OMIM:214450 MYO5A 4644 HP:0003593 Infantile onset OMIM:214450 MYO5A 4644 HP:0001107 Ocular albinism OMIM:214450 MYO5A 4644 HP:0003119 Abnormality of lipid metabolism OMIM:214450 MYO5A 4644 HP:0005599 Hypopigmentation of hair OMIM:214450 MYO5A 4644 HP:0001252 Muscular hypotonia OMIM:214450 MYO5A 4644 HP:0000007 Autosomal recessive inheritance OMIM:214450 MYO5A 4644 HP:0001263 Global developmental delay OMIM:214450 MYO5A 4644 HP:0001249 Intellectual disability OMIM:312700 RS1 6247 HP:0000529 Progressive visual loss OMIM:312700 RS1 6247 HP:0001423 X-linked dominant inheritance OMIM:312700 RS1 6247 HP:0000512 Abnormal electroretinogram OMIM:312700 RS1 6247 HP:0007984 Reduced amplitude of b-wave (ERG) OMIM:312700 RS1 6247 HP:0000501 Glaucoma OMIM:312700 RS1 6247 HP:0007667 Cystic retinal degeneration OMIM:312700 RS1 6247 HP:0000518 Cataract OMIM:312700 RS1 6247 HP:0000496 Abnormality of eye movement OMIM:312700 RS1 6247 HP:0001150 Choroidal sclerosis OMIM:312700 RS1 6247 HP:0001105 Retinal atrophy OMIM:312700 RS1 6247 HP:0000567 Chorioretinal coloboma OMIM:312700 RS1 6247 HP:0000541 Retinal detachment OMIM:177735 NR3C2 4306 HP:0002902 Hyponatremia OMIM:177735 NR3C2 4306 HP:0003812 Phenotypic variability OMIM:177735 NR3C2 4306 HP:0000841 Hyperactive renin-angiotensin system OMIM:177735 NR3C2 4306 HP:0002013 Vomiting OMIM:177735 NR3C2 4306 HP:0000859 Hyperaldosteronism OMIM:177735 NR3C2 4306 HP:0002615 Hypotension OMIM:177735 NR3C2 4306 HP:0001508 Failure to thrive OMIM:177735 NR3C2 4306 HP:0000006 Autosomal dominant inheritance OMIM:177735 NR3C2 4306 HP:0000848 Increased circulating renin level OMIM:177735 NR3C2 4306 HP:0001942 Metabolic acidosis OMIM:177735 NR3C2 4306 HP:0001944 Dehydration OMIM:177735 NR3C2 4306 HP:0011968 Feeding difficulties OMIM:177735 NR3C2 4306 HP:0008242 Pseudohypoaldosteronism OMIM:177735 NR3C2 4306 HP:0002014 Diarrhea OMIM:177735 NR3C2 4306 HP:0003593 Infantile onset OMIM:177735 NR3C2 4306 HP:0002153 Hyperkalemia OMIM:612736 GAMT 2593 HP:0000750 Delayed speech and language development OMIM:612736 GAMT 2593 HP:0007153 Progressive extrapyramidal movement disorder OMIM:612736 GAMT 2593 HP:0000007 Autosomal recessive inheritance OMIM:612736 GAMT 2593 HP:0001263 Global developmental delay OMIM:612736 GAMT 2593 HP:0001347 Hyperreflexia OMIM:612736 GAMT 2593 HP:0001276 Hypertonia OMIM:612736 GAMT 2593 HP:0001251 Ataxia OMIM:612736 GAMT 2593 HP:0008947 Infantile muscular hypotonia OMIM:612736 GAMT 2593 HP:0001250 Seizures OMIM:612736 GAMT 2593 HP:0001249 Intellectual disability OMIM:612736 GAMT 2593 HP:0001336 Myoclonus OMIM:615191 LAMB1 3912 HP:0002085 Occipital encephalocele OMIM:615191 LAMB1 3912 HP:0000007 Autosomal recessive inheritance OMIM:615191 LAMB1 3912 HP:0002500 Abnormality of the cerebral white matter OMIM:615191 LAMB1 3912 HP:0001250 Seizures OMIM:615191 LAMB1 3912 HP:0011344 Severe global developmental delay OMIM:615191 LAMB1 3912 HP:0000256 Macrocephaly OMIM:615191 LAMB1 3912 HP:0002281 Gray matter heterotopias OMIM:615191 LAMB1 3912 HP:0002365 Hypoplasia of the brainstem OMIM:615191 LAMB1 3912 HP:0000648 Optic atrophy OMIM:615191 LAMB1 3912 HP:0001252 Muscular hypotonia OMIM:615191 LAMB1 3912 HP:0001339 Lissencephaly OMIM:615191 LAMB1 3912 HP:0000238 Hydrocephalus OMIM:615191 LAMB1 3912 HP:0001321 Cerebellar hypoplasia OMIM:607655 DSP 1832 HP:0000535 Sparse eyebrow OMIM:607655 DSP 1832 HP:0000007 Autosomal recessive inheritance OMIM:607655 DSP 1832 HP:0000653 Sparse eyelashes OMIM:607655 DSP 1832 HP:0007548 Palmoplantar keratosis with erythema and scale OMIM:607655 DSP 1832 HP:0001030 Fragile skin OMIM:607655 DSP 1832 HP:0001508 Failure to thrive OMIM:607655 DSP 1832 HP:0002224 Woolly hair OMIM:607655 DSP 1832 HP:0001596 Alopecia OMIM:607655 DSP 1832 HP:0002164 Nail dysplasia OMIM:607655 DSP 1832 HP:0001626 Abnormality of the cardiovascular system OMIM:607655 DSP 1832 HP:0008404 Nail dystrophy OMIM:230740 ANTXR1 84168 HP:0000501 Glaucoma OMIM:230740 ANTXR1 84168 HP:0000365 Hearing impairment OMIM:230740 ANTXR1 84168 HP:0000164 Abnormality of the teeth OMIM:230740 ANTXR1 84168 HP:0100540 Palpebral edema OMIM:230740 ANTXR1 84168 HP:0000648 Optic atrophy OMIM:230740 ANTXR1 84168 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:230740 ANTXR1 84168 HP:0000270 Delayed cranial suture closure OMIM:230740 ANTXR1 84168 HP:0001382 Joint hypermobility OMIM:230740 ANTXR1 84168 HP:0007495 Prematurely aged appearance OMIM:230740 ANTXR1 84168 HP:0005280 Depressed nasal bridge OMIM:230740 ANTXR1 84168 HP:0001537 Umbilical hernia OMIM:230740 ANTXR1 84168 HP:0001596 Alopecia OMIM:230740 ANTXR1 84168 HP:0001510 Growth delay OMIM:230740 ANTXR1 84168 HP:0000316 Hypertelorism OMIM:230740 ANTXR1 84168 HP:0000007 Autosomal recessive inheritance OMIM:230740 ANTXR1 84168 HP:0000272 Malar flattening OMIM:230740 ANTXR1 84168 HP:0002007 Frontal bossing OMIM:230740 ANTXR1 84168 HP:0000453 Choanal atresia OMIM:230740 ANTXR1 84168 HP:0001555 Asymmetry of the thorax OMIM:230740 ANTXR1 84168 HP:0000232 Everted lower lip vermilion OMIM:230740 ANTXR1 84168 HP:0004331 Decreased skull ossification OMIM:230740 ANTXR1 84168 HP:0000563 Keratoconus OMIM:230740 ANTXR1 84168 HP:0001006 Hypotrichosis OMIM:230740 ANTXR1 84168 HP:0000684 Delayed eruption of teeth OMIM:230740 ANTXR1 84168 HP:0002750 Delayed skeletal maturation OMIM:230740 ANTXR1 84168 HP:0001939 Abnormality of metabolism/homeostasis OMIM:230740 ANTXR1 84168 HP:0000343 Long philtrum OMIM:230740 ANTXR1 84168 HP:0000505 Visual impairment OMIM:230740 ANTXR1 84168 HP:0000411 Protruding ear OMIM:230740 ANTXR1 84168 HP:0000639 Nystagmus OMIM:230740 ANTXR1 84168 HP:0000179 Thick lower lip vermilion OMIM:230740 ANTXR1 84168 HP:0000368 Low-set, posteriorly rotated ears OMIM:230740 ANTXR1 84168 HP:0000347 Micrognathia OMIM:230740 ANTXR1 84168 HP:0100689 Decreased corneal thickness OMIM:230740 ANTXR1 84168 HP:0003187 Breast hypoplasia OMIM:230740 ANTXR1 84168 HP:0000260 Wide anterior fontanel OMIM:230740 ANTXR1 84168 HP:0001053 Hypopigmented skin patches OMIM:230740 ANTXR1 84168 HP:0000869 Secondary amenorrhea OMIM:230740 ANTXR1 84168 HP:0002557 Hypoplastic nipples OMIM:230740 ANTXR1 84168 HP:0004322 Short stature OMIM:230740 ANTXR1 84168 HP:0100659 Abnormality of the cerebral vasculature OMIM:230740 ANTXR1 84168 HP:0001043 Prominent scalp veins OMIM:230740 ANTXR1 84168 HP:0009891 Underdeveloped supraorbital ridges OMIM:230740 ANTXR1 84168 HP:0000463 Anteverted nares OMIM:230740 ANTXR1 84168 HP:0000174 Abnormality of the palate OMIM:230740 ANTXR1 84168 HP:0005576 Tubulointerstitial fibrosis OMIM:230740 ANTXR1 84168 HP:0000974 Hyperextensible skin OMIM:230740 ANTXR1 84168 HP:0000545 Myopia OMIM:230740 ANTXR1 84168 HP:0000337 Broad forehead OMIM:230740 ANTXR1 84168 HP:0000499 Abnormality of the eyelashes OMIM:230740 ANTXR1 84168 HP:0002516 Increased intracranial pressure OMIM:230740 ANTXR1 84168 HP:0000787 Nephrolithiasis OMIM:230740 ANTXR1 84168 HP:0000348 High forehead OMIM:230740 ANTXR1 84168 HP:0000889 Abnormality of the clavicle OMIM:230740 ANTXR1 84168 HP:0000944 Abnormality of the metaphyses OMIM:230740 ANTXR1 84168 HP:0002621 Atherosclerosis OMIM:230740 ANTXR1 84168 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:230740 ANTXR1 84168 HP:0000303 Mandibular prognathia OMIM:179780 DPEP1 1800 HP:0000006 Autosomal dominant inheritance OMIM:608415 RGS9 8787 HP:0000505 Visual impairment OMIM:608415 RGS9 8787 HP:0000613 Photophobia OMIM:608415 RGS9BP 388531 HP:0000505 Visual impairment OMIM:608415 RGS9BP 388531 HP:0000613 Photophobia OMIM:300923 KIF4A 24137 HP:0002465 Poor speech OMIM:300923 KIF4A 24137 HP:0001250 Seizures OMIM:300923 KIF4A 24137 HP:0001249 Intellectual disability OMIM:611804 EPB41 2035 HP:0004445 Elliptocytosis OMIM:611804 EPB41 2035 HP:0001878 Hemolytic anemia OMIM:611804 EPB41 2035 HP:0000006 Autosomal dominant inheritance OMIM:614615 C5ORF42 65250 HP:0002883 Hyperventilation OMIM:614615 C5ORF42 65250 HP:0001263 Global developmental delay OMIM:614615 C5ORF42 65250 HP:0010442 Polydactyly OMIM:614615 C5ORF42 65250 HP:0000657 Oculomotor apraxia OMIM:614615 C5ORF42 65250 HP:0000007 Autosomal recessive inheritance OMIM:614615 C5ORF42 65250 HP:0001251 Ataxia OMIM:614615 C5ORF42 65250 HP:0001320 Cerebellar vermis hypoplasia OMIM:614615 C5ORF42 65250 HP:0001159 Syndactyly OMIM:613908 TGM6 343641 HP:0003677 Slow progression OMIM:613908 TGM6 343641 HP:0003487 Babinski sign OMIM:613908 TGM6 343641 HP:0003581 Adult onset OMIM:613908 TGM6 343641 HP:0000006 Autosomal dominant inheritance OMIM:613908 TGM6 343641 HP:0002355 Difficulty walking OMIM:613908 TGM6 343641 HP:0000467 Neck muscle weakness OMIM:613908 TGM6 343641 HP:0001260 Dysarthria OMIM:613908 TGM6 343641 HP:0002080 Intention tremor OMIM:613908 TGM6 343641 HP:0001347 Hyperreflexia OMIM:613908 TGM6 343641 HP:0000284 Abnormality of the ocular region OMIM:613908 TGM6 343641 HP:0001272 Cerebellar atrophy OMIM:613908 TGM6 343641 HP:0001310 Dysmetria OMIM:613908 TGM6 343641 HP:0002311 Incoordination OMIM:613908 TGM6 343641 HP:0000473 Torticollis OMIM:615705 KIAA0226 9711 HP:0000007 Autosomal recessive inheritance OMIM:615705 KIAA0226 9711 HP:0001249 Intellectual disability OMIM:615705 KIAA0226 9711 HP:0002317 Unsteady gait OMIM:615705 KIAA0226 9711 HP:0001270 Motor delay OMIM:615705 KIAA0226 9711 HP:0001260 Dysarthria OMIM:615705 KIAA0226 9711 HP:0001265 Hyporeflexia OMIM:615705 KIAA0226 9711 HP:0001272 Cerebellar atrophy OMIM:615705 KIAA0226 9711 HP:0001347 Hyperreflexia OMIM:615705 KIAA0226 9711 HP:0001251 Ataxia OMIM:615705 KIAA0226 9711 HP:0000639 Nystagmus OMIM:615705 KIAA0226 9711 HP:0001250 Seizures OMIM:615705 KIAA0226 9711 HP:0003676 Progressive disorder OMIM:608810 CRYAB 1410 HP:0000467 Neck muscle weakness OMIM:608810 CRYAB 1410 HP:0003560 Muscular dystrophy OMIM:608810 CRYAB 1410 HP:0003555 Muscle fiber splitting OMIM:608810 CRYAB 1410 HP:0003677 Slow progression OMIM:608810 CRYAB 1410 HP:0009072 Decreased Achilles reflex OMIM:608810 CRYAB 1410 HP:0003581 Adult onset OMIM:608810 CRYAB 1410 HP:0003325 Limb-girdle muscle weakness OMIM:608810 CRYAB 1410 HP:0009027 Foot dorsiflexor weakness OMIM:608810 CRYAB 1410 HP:0000006 Autosomal dominant inheritance OMIM:608810 CRYAB 1410 HP:0003236 Elevated serum creatine phosphokinase OMIM:608810 CRYAB 1410 HP:0001639 Hypertrophic cardiomyopathy OMIM:608810 CRYAB 1410 HP:0003694 Late-onset proximal muscle weakness OMIM:608810 CRYAB 1410 HP:0003736 Autophagic vacuoles OMIM:608810 CRYAB 1410 HP:0000518 Cataract OMIM:608810 CRYAB 1410 HP:0002460 Distal muscle weakness OMIM:608810 CRYAB 1410 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:608810 CRYAB 1410 HP:0003458 EMG: myopathic abnormalities ORPHANET:478 WDR11 55717 HP:0000407 Sensorineural hearing impairment ORPHANET:478 WDR11 55717 HP:0004408 Abnormality of the sense of smell ORPHANET:478 WDR11 55717 HP:0000175 Cleft palate ORPHANET:478 WDR11 55717 HP:0100639 Erectile abnormalities ORPHANET:478 WDR11 55717 HP:0009804 Reduced number of teeth ORPHANET:478 WDR11 55717 HP:0000639 Nystagmus ORPHANET:478 WDR11 55717 HP:0002167 Neurological speech impairment ORPHANET:478 WDR11 55717 HP:0001838 Rocker bottom foot ORPHANET:478 WDR11 55717 HP:0001252 Muscular hypotonia ORPHANET:478 WDR11 55717 HP:0004374 Hemiplegia/hemiparesis ORPHANET:478 WDR11 55717 HP:0000771 Gynecomastia ORPHANET:478 WDR11 55717 HP:0001337 Tremor ORPHANET:478 WDR11 55717 HP:0001513 Obesity ORPHANET:478 WDR11 55717 HP:0000508 Ptosis ORPHANET:478 WDR11 55717 HP:0000505 Visual impairment ORPHANET:478 WDR11 55717 HP:0002652 Skeletal dysplasia ORPHANET:478 WDR11 55717 HP:0001250 Seizures ORPHANET:478 WDR11 55717 HP:0000830 Anterior hypopituitarism ORPHANET:478 WDR11 55717 HP:0002311 Incoordination ORPHANET:478 WDR11 55717 HP:0008064 Ichthyosis ORPHANET:478 WDR11 55717 HP:0008678 Renal hypoplasia/aplasia ORPHANET:478 WDR11 55717 HP:0000144 Decreased fertility ORPHANET:478 WDR11 55717 HP:0001288 Gait disturbance ORPHANET:478 WDR11 55717 HP:0100783 Breast aplasia ORPHANET:478 WDR11 55717 HP:0000786 Primary amenorrhea ORPHANET:478 WDR11 55717 HP:0002750 Delayed skeletal maturation ORPHANET:478 WDR11 55717 HP:0000551 Abnormality of color vision ORPHANET:478 WDR11 55717 HP:0000028 Cryptorchidism ORPHANET:478 WDR11 55717 HP:0001608 Abnormality of the voice ORPHANET:478 WDR11 55717 HP:0004349 Reduced bone mineral density ORPHANET:478 WDR11 55717 HP:0001324 Muscle weakness ORPHANET:478 WDR11 55717 HP:0002757 Recurrent fractures ORPHANET:478 WDR11 55717 HP:0008736 Hypoplasia of penis ORPHANET:478 WDR11 55717 HP:0001761 Pes cavus ORPHANET:478 WDR11 55717 HP:0002564 Malformation of the heart and great vessels ORPHANET:478 DUSP6 1848 HP:0000407 Sensorineural hearing impairment ORPHANET:478 DUSP6 1848 HP:0004408 Abnormality of the sense of smell ORPHANET:478 DUSP6 1848 HP:0000175 Cleft palate ORPHANET:478 DUSP6 1848 HP:0100639 Erectile abnormalities ORPHANET:478 DUSP6 1848 HP:0009804 Reduced number of teeth ORPHANET:478 DUSP6 1848 HP:0000639 Nystagmus ORPHANET:478 DUSP6 1848 HP:0002167 Neurological speech impairment ORPHANET:478 DUSP6 1848 HP:0001838 Rocker bottom foot ORPHANET:478 DUSP6 1848 HP:0001252 Muscular hypotonia ORPHANET:478 DUSP6 1848 HP:0004374 Hemiplegia/hemiparesis ORPHANET:478 DUSP6 1848 HP:0000771 Gynecomastia ORPHANET:478 DUSP6 1848 HP:0001337 Tremor ORPHANET:478 DUSP6 1848 HP:0001513 Obesity ORPHANET:478 DUSP6 1848 HP:0000508 Ptosis ORPHANET:478 DUSP6 1848 HP:0000505 Visual impairment ORPHANET:478 DUSP6 1848 HP:0002652 Skeletal dysplasia ORPHANET:478 DUSP6 1848 HP:0001250 Seizures ORPHANET:478 DUSP6 1848 HP:0000830 Anterior hypopituitarism ORPHANET:478 DUSP6 1848 HP:0002311 Incoordination ORPHANET:478 DUSP6 1848 HP:0008064 Ichthyosis ORPHANET:478 DUSP6 1848 HP:0008678 Renal hypoplasia/aplasia ORPHANET:478 DUSP6 1848 HP:0000144 Decreased fertility ORPHANET:478 DUSP6 1848 HP:0001288 Gait disturbance ORPHANET:478 DUSP6 1848 HP:0100783 Breast aplasia ORPHANET:478 DUSP6 1848 HP:0000786 Primary amenorrhea ORPHANET:478 DUSP6 1848 HP:0002750 Delayed skeletal maturation ORPHANET:478 DUSP6 1848 HP:0000551 Abnormality of color vision ORPHANET:478 DUSP6 1848 HP:0000028 Cryptorchidism ORPHANET:478 DUSP6 1848 HP:0001608 Abnormality of the voice ORPHANET:478 DUSP6 1848 HP:0004349 Reduced bone mineral density ORPHANET:478 DUSP6 1848 HP:0001324 Muscle weakness ORPHANET:478 DUSP6 1848 HP:0002757 Recurrent fractures ORPHANET:478 DUSP6 1848 HP:0008736 Hypoplasia of penis ORPHANET:478 DUSP6 1848 HP:0001761 Pes cavus ORPHANET:478 DUSP6 1848 HP:0002564 Malformation of the heart and great vessels ORPHANET:478 FLRT3 23767 HP:0000407 Sensorineural hearing impairment ORPHANET:478 FLRT3 23767 HP:0004408 Abnormality of the sense of smell ORPHANET:478 FLRT3 23767 HP:0000175 Cleft palate ORPHANET:478 FLRT3 23767 HP:0100639 Erectile abnormalities ORPHANET:478 FLRT3 23767 HP:0009804 Reduced number of teeth ORPHANET:478 FLRT3 23767 HP:0000639 Nystagmus ORPHANET:478 FLRT3 23767 HP:0002167 Neurological speech impairment ORPHANET:478 FLRT3 23767 HP:0001838 Rocker bottom foot ORPHANET:478 FLRT3 23767 HP:0001252 Muscular hypotonia ORPHANET:478 FLRT3 23767 HP:0004374 Hemiplegia/hemiparesis ORPHANET:478 FLRT3 23767 HP:0000771 Gynecomastia ORPHANET:478 FLRT3 23767 HP:0001337 Tremor ORPHANET:478 FLRT3 23767 HP:0001513 Obesity ORPHANET:478 FLRT3 23767 HP:0000508 Ptosis ORPHANET:478 FLRT3 23767 HP:0000505 Visual impairment ORPHANET:478 FLRT3 23767 HP:0002652 Skeletal dysplasia ORPHANET:478 FLRT3 23767 HP:0001250 Seizures ORPHANET:478 FLRT3 23767 HP:0000830 Anterior hypopituitarism ORPHANET:478 FLRT3 23767 HP:0002311 Incoordination ORPHANET:478 FLRT3 23767 HP:0008064 Ichthyosis ORPHANET:478 FLRT3 23767 HP:0008678 Renal hypoplasia/aplasia ORPHANET:478 FLRT3 23767 HP:0000144 Decreased fertility ORPHANET:478 FLRT3 23767 HP:0001288 Gait disturbance ORPHANET:478 FLRT3 23767 HP:0100783 Breast aplasia ORPHANET:478 FLRT3 23767 HP:0000786 Primary amenorrhea ORPHANET:478 FLRT3 23767 HP:0002750 Delayed skeletal maturation ORPHANET:478 FLRT3 23767 HP:0000551 Abnormality of color vision ORPHANET:478 FLRT3 23767 HP:0000028 Cryptorchidism ORPHANET:478 FLRT3 23767 HP:0001608 Abnormality of the voice ORPHANET:478 FLRT3 23767 HP:0004349 Reduced bone mineral density ORPHANET:478 FLRT3 23767 HP:0001324 Muscle weakness ORPHANET:478 FLRT3 23767 HP:0002757 Recurrent fractures ORPHANET:478 FLRT3 23767 HP:0008736 Hypoplasia of penis ORPHANET:478 FLRT3 23767 HP:0001761 Pes cavus ORPHANET:478 FLRT3 23767 HP:0002564 Malformation of the heart and great vessels ORPHANET:478 ANOS1 3730 HP:0000407 Sensorineural hearing impairment ORPHANET:478 ANOS1 3730 HP:0004408 Abnormality of the sense of smell ORPHANET:478 ANOS1 3730 HP:0000175 Cleft palate ORPHANET:478 ANOS1 3730 HP:0100639 Erectile abnormalities ORPHANET:478 ANOS1 3730 HP:0009804 Reduced number of teeth ORPHANET:478 ANOS1 3730 HP:0000639 Nystagmus ORPHANET:478 ANOS1 3730 HP:0002167 Neurological speech impairment ORPHANET:478 ANOS1 3730 HP:0001838 Rocker bottom foot ORPHANET:478 ANOS1 3730 HP:0001252 Muscular hypotonia ORPHANET:478 ANOS1 3730 HP:0004374 Hemiplegia/hemiparesis ORPHANET:478 ANOS1 3730 HP:0000771 Gynecomastia ORPHANET:478 ANOS1 3730 HP:0001337 Tremor ORPHANET:478 ANOS1 3730 HP:0001513 Obesity ORPHANET:478 ANOS1 3730 HP:0000508 Ptosis ORPHANET:478 ANOS1 3730 HP:0000505 Visual impairment ORPHANET:478 ANOS1 3730 HP:0002652 Skeletal dysplasia ORPHANET:478 ANOS1 3730 HP:0001250 Seizures ORPHANET:478 ANOS1 3730 HP:0000830 Anterior hypopituitarism ORPHANET:478 ANOS1 3730 HP:0002311 Incoordination ORPHANET:478 ANOS1 3730 HP:0008064 Ichthyosis ORPHANET:478 ANOS1 3730 HP:0008678 Renal hypoplasia/aplasia ORPHANET:478 ANOS1 3730 HP:0000144 Decreased fertility ORPHANET:478 ANOS1 3730 HP:0001288 Gait disturbance ORPHANET:478 ANOS1 3730 HP:0100783 Breast aplasia ORPHANET:478 ANOS1 3730 HP:0000786 Primary amenorrhea ORPHANET:478 ANOS1 3730 HP:0002750 Delayed skeletal maturation ORPHANET:478 ANOS1 3730 HP:0000551 Abnormality of color vision ORPHANET:478 ANOS1 3730 HP:0000028 Cryptorchidism ORPHANET:478 ANOS1 3730 HP:0001608 Abnormality of the voice ORPHANET:478 ANOS1 3730 HP:0004349 Reduced bone mineral density ORPHANET:478 ANOS1 3730 HP:0001324 Muscle weakness ORPHANET:478 ANOS1 3730 HP:0002757 Recurrent fractures ORPHANET:478 ANOS1 3730 HP:0008736 Hypoplasia of penis ORPHANET:478 ANOS1 3730 HP:0001761 Pes cavus ORPHANET:478 ANOS1 3730 HP:0002564 Malformation of the heart and great vessels ORPHANET:478 PROK2 60675 HP:0000407 Sensorineural hearing impairment ORPHANET:478 PROK2 60675 HP:0004408 Abnormality of the sense of smell ORPHANET:478 PROK2 60675 HP:0000175 Cleft palate ORPHANET:478 PROK2 60675 HP:0100639 Erectile abnormalities ORPHANET:478 PROK2 60675 HP:0009804 Reduced number of teeth ORPHANET:478 PROK2 60675 HP:0000639 Nystagmus ORPHANET:478 PROK2 60675 HP:0002167 Neurological speech impairment ORPHANET:478 PROK2 60675 HP:0001838 Rocker bottom foot ORPHANET:478 PROK2 60675 HP:0001252 Muscular hypotonia ORPHANET:478 PROK2 60675 HP:0004374 Hemiplegia/hemiparesis ORPHANET:478 PROK2 60675 HP:0000771 Gynecomastia ORPHANET:478 PROK2 60675 HP:0001337 Tremor ORPHANET:478 PROK2 60675 HP:0001513 Obesity ORPHANET:478 PROK2 60675 HP:0000508 Ptosis ORPHANET:478 PROK2 60675 HP:0000505 Visual impairment ORPHANET:478 PROK2 60675 HP:0002652 Skeletal dysplasia ORPHANET:478 PROK2 60675 HP:0001250 Seizures ORPHANET:478 PROK2 60675 HP:0000830 Anterior hypopituitarism ORPHANET:478 PROK2 60675 HP:0002311 Incoordination ORPHANET:478 PROK2 60675 HP:0008064 Ichthyosis ORPHANET:478 PROK2 60675 HP:0008678 Renal hypoplasia/aplasia ORPHANET:478 PROK2 60675 HP:0000144 Decreased fertility ORPHANET:478 PROK2 60675 HP:0001288 Gait disturbance ORPHANET:478 PROK2 60675 HP:0100783 Breast aplasia ORPHANET:478 PROK2 60675 HP:0000786 Primary amenorrhea ORPHANET:478 PROK2 60675 HP:0002750 Delayed skeletal maturation ORPHANET:478 PROK2 60675 HP:0000551 Abnormality of color vision ORPHANET:478 PROK2 60675 HP:0000028 Cryptorchidism ORPHANET:478 PROK2 60675 HP:0001608 Abnormality of the voice ORPHANET:478 PROK2 60675 HP:0004349 Reduced bone mineral density ORPHANET:478 PROK2 60675 HP:0001324 Muscle weakness ORPHANET:478 PROK2 60675 HP:0002757 Recurrent fractures ORPHANET:478 PROK2 60675 HP:0008736 Hypoplasia of penis ORPHANET:478 PROK2 60675 HP:0001761 Pes cavus ORPHANET:478 PROK2 60675 HP:0002564 Malformation of the heart and great vessels ORPHANET:478 FGFR1 2260 HP:0000407 Sensorineural hearing impairment ORPHANET:478 FGFR1 2260 HP:0004408 Abnormality of the sense of smell ORPHANET:478 FGFR1 2260 HP:0000175 Cleft palate ORPHANET:478 FGFR1 2260 HP:0100639 Erectile abnormalities ORPHANET:478 FGFR1 2260 HP:0009804 Reduced number of teeth ORPHANET:478 FGFR1 2260 HP:0000639 Nystagmus ORPHANET:478 FGFR1 2260 HP:0002167 Neurological speech impairment ORPHANET:478 FGFR1 2260 HP:0001838 Rocker bottom foot ORPHANET:478 FGFR1 2260 HP:0001252 Muscular hypotonia ORPHANET:478 FGFR1 2260 HP:0004374 Hemiplegia/hemiparesis ORPHANET:478 FGFR1 2260 HP:0000771 Gynecomastia ORPHANET:478 FGFR1 2260 HP:0001337 Tremor ORPHANET:478 FGFR1 2260 HP:0001513 Obesity ORPHANET:478 FGFR1 2260 HP:0000508 Ptosis ORPHANET:478 FGFR1 2260 HP:0000505 Visual impairment ORPHANET:478 FGFR1 2260 HP:0002652 Skeletal dysplasia ORPHANET:478 FGFR1 2260 HP:0001250 Seizures ORPHANET:478 FGFR1 2260 HP:0000830 Anterior hypopituitarism ORPHANET:478 FGFR1 2260 HP:0002311 Incoordination ORPHANET:478 FGFR1 2260 HP:0008064 Ichthyosis ORPHANET:478 FGFR1 2260 HP:0008678 Renal hypoplasia/aplasia ORPHANET:478 FGFR1 2260 HP:0000144 Decreased fertility ORPHANET:478 FGFR1 2260 HP:0001288 Gait disturbance ORPHANET:478 FGFR1 2260 HP:0100783 Breast aplasia ORPHANET:478 FGFR1 2260 HP:0000786 Primary amenorrhea ORPHANET:478 FGFR1 2260 HP:0002750 Delayed skeletal maturation ORPHANET:478 FGFR1 2260 HP:0000551 Abnormality of color vision ORPHANET:478 FGFR1 2260 HP:0000028 Cryptorchidism ORPHANET:478 FGFR1 2260 HP:0001608 Abnormality of the voice ORPHANET:478 FGFR1 2260 HP:0004349 Reduced bone mineral density ORPHANET:478 FGFR1 2260 HP:0001324 Muscle weakness ORPHANET:478 FGFR1 2260 HP:0002757 Recurrent fractures ORPHANET:478 FGFR1 2260 HP:0008736 Hypoplasia of penis ORPHANET:478 FGFR1 2260 HP:0001761 Pes cavus ORPHANET:478 FGFR1 2260 HP:0002564 Malformation of the heart and great vessels ORPHANET:478 NSMF 26012 HP:0000407 Sensorineural hearing impairment ORPHANET:478 NSMF 26012 HP:0004408 Abnormality of the sense of smell ORPHANET:478 NSMF 26012 HP:0000175 Cleft palate ORPHANET:478 NSMF 26012 HP:0100639 Erectile abnormalities ORPHANET:478 NSMF 26012 HP:0009804 Reduced number of teeth ORPHANET:478 NSMF 26012 HP:0000639 Nystagmus ORPHANET:478 NSMF 26012 HP:0002167 Neurological speech impairment ORPHANET:478 NSMF 26012 HP:0001838 Rocker bottom foot ORPHANET:478 NSMF 26012 HP:0001252 Muscular hypotonia ORPHANET:478 NSMF 26012 HP:0004374 Hemiplegia/hemiparesis ORPHANET:478 NSMF 26012 HP:0000771 Gynecomastia ORPHANET:478 NSMF 26012 HP:0001337 Tremor ORPHANET:478 NSMF 26012 HP:0001513 Obesity ORPHANET:478 NSMF 26012 HP:0000508 Ptosis ORPHANET:478 NSMF 26012 HP:0000505 Visual impairment ORPHANET:478 NSMF 26012 HP:0002652 Skeletal dysplasia ORPHANET:478 NSMF 26012 HP:0001250 Seizures ORPHANET:478 NSMF 26012 HP:0000830 Anterior hypopituitarism ORPHANET:478 NSMF 26012 HP:0002311 Incoordination ORPHANET:478 NSMF 26012 HP:0008064 Ichthyosis ORPHANET:478 NSMF 26012 HP:0008678 Renal hypoplasia/aplasia ORPHANET:478 NSMF 26012 HP:0000144 Decreased fertility ORPHANET:478 NSMF 26012 HP:0001288 Gait disturbance ORPHANET:478 NSMF 26012 HP:0100783 Breast aplasia ORPHANET:478 NSMF 26012 HP:0000786 Primary amenorrhea ORPHANET:478 NSMF 26012 HP:0002750 Delayed skeletal maturation ORPHANET:478 NSMF 26012 HP:0000551 Abnormality of color vision ORPHANET:478 NSMF 26012 HP:0000028 Cryptorchidism ORPHANET:478 NSMF 26012 HP:0001608 Abnormality of the voice ORPHANET:478 NSMF 26012 HP:0004349 Reduced bone mineral density ORPHANET:478 NSMF 26012 HP:0001324 Muscle weakness ORPHANET:478 NSMF 26012 HP:0002757 Recurrent fractures ORPHANET:478 NSMF 26012 HP:0008736 Hypoplasia of penis ORPHANET:478 NSMF 26012 HP:0001761 Pes cavus ORPHANET:478 NSMF 26012 HP:0002564 Malformation of the heart and great vessels ORPHANET:478 FEZF1 389549 HP:0000407 Sensorineural hearing impairment ORPHANET:478 FEZF1 389549 HP:0004408 Abnormality of the sense of smell ORPHANET:478 FEZF1 389549 HP:0000175 Cleft palate ORPHANET:478 FEZF1 389549 HP:0100639 Erectile abnormalities ORPHANET:478 FEZF1 389549 HP:0009804 Reduced number of teeth ORPHANET:478 FEZF1 389549 HP:0000639 Nystagmus ORPHANET:478 FEZF1 389549 HP:0002167 Neurological speech impairment ORPHANET:478 FEZF1 389549 HP:0001838 Rocker bottom foot ORPHANET:478 FEZF1 389549 HP:0001252 Muscular hypotonia ORPHANET:478 FEZF1 389549 HP:0004374 Hemiplegia/hemiparesis ORPHANET:478 FEZF1 389549 HP:0000771 Gynecomastia ORPHANET:478 FEZF1 389549 HP:0001337 Tremor ORPHANET:478 FEZF1 389549 HP:0001513 Obesity ORPHANET:478 FEZF1 389549 HP:0000508 Ptosis ORPHANET:478 FEZF1 389549 HP:0000505 Visual impairment ORPHANET:478 FEZF1 389549 HP:0002652 Skeletal dysplasia ORPHANET:478 FEZF1 389549 HP:0001250 Seizures ORPHANET:478 FEZF1 389549 HP:0000830 Anterior hypopituitarism ORPHANET:478 FEZF1 389549 HP:0002311 Incoordination ORPHANET:478 FEZF1 389549 HP:0008064 Ichthyosis ORPHANET:478 FEZF1 389549 HP:0008678 Renal hypoplasia/aplasia ORPHANET:478 FEZF1 389549 HP:0000144 Decreased fertility ORPHANET:478 FEZF1 389549 HP:0001288 Gait disturbance ORPHANET:478 FEZF1 389549 HP:0100783 Breast aplasia ORPHANET:478 FEZF1 389549 HP:0000786 Primary amenorrhea ORPHANET:478 FEZF1 389549 HP:0002750 Delayed skeletal maturation ORPHANET:478 FEZF1 389549 HP:0000551 Abnormality of color vision ORPHANET:478 FEZF1 389549 HP:0000028 Cryptorchidism ORPHANET:478 FEZF1 389549 HP:0001608 Abnormality of the voice ORPHANET:478 FEZF1 389549 HP:0004349 Reduced bone mineral density ORPHANET:478 FEZF1 389549 HP:0001324 Muscle weakness ORPHANET:478 FEZF1 389549 HP:0002757 Recurrent fractures ORPHANET:478 FEZF1 389549 HP:0008736 Hypoplasia of penis ORPHANET:478 FEZF1 389549 HP:0001761 Pes cavus ORPHANET:478 FEZF1 389549 HP:0002564 Malformation of the heart and great vessels ORPHANET:478 SPRY4 81848 HP:0000407 Sensorineural hearing impairment ORPHANET:478 SPRY4 81848 HP:0004408 Abnormality of the sense of smell ORPHANET:478 SPRY4 81848 HP:0000175 Cleft palate ORPHANET:478 SPRY4 81848 HP:0100639 Erectile abnormalities ORPHANET:478 SPRY4 81848 HP:0009804 Reduced number of teeth ORPHANET:478 SPRY4 81848 HP:0000639 Nystagmus ORPHANET:478 SPRY4 81848 HP:0002167 Neurological speech impairment ORPHANET:478 SPRY4 81848 HP:0001838 Rocker bottom foot ORPHANET:478 SPRY4 81848 HP:0001252 Muscular hypotonia ORPHANET:478 SPRY4 81848 HP:0004374 Hemiplegia/hemiparesis ORPHANET:478 SPRY4 81848 HP:0000771 Gynecomastia ORPHANET:478 SPRY4 81848 HP:0001337 Tremor ORPHANET:478 SPRY4 81848 HP:0001513 Obesity ORPHANET:478 SPRY4 81848 HP:0000508 Ptosis ORPHANET:478 SPRY4 81848 HP:0000505 Visual impairment ORPHANET:478 SPRY4 81848 HP:0002652 Skeletal dysplasia ORPHANET:478 SPRY4 81848 HP:0001250 Seizures ORPHANET:478 SPRY4 81848 HP:0000830 Anterior hypopituitarism ORPHANET:478 SPRY4 81848 HP:0002311 Incoordination ORPHANET:478 SPRY4 81848 HP:0008064 Ichthyosis ORPHANET:478 SPRY4 81848 HP:0008678 Renal hypoplasia/aplasia ORPHANET:478 SPRY4 81848 HP:0000144 Decreased fertility ORPHANET:478 SPRY4 81848 HP:0001288 Gait disturbance ORPHANET:478 SPRY4 81848 HP:0100783 Breast aplasia ORPHANET:478 SPRY4 81848 HP:0000786 Primary amenorrhea ORPHANET:478 SPRY4 81848 HP:0002750 Delayed skeletal maturation ORPHANET:478 SPRY4 81848 HP:0000551 Abnormality of color vision ORPHANET:478 SPRY4 81848 HP:0000028 Cryptorchidism ORPHANET:478 SPRY4 81848 HP:0001608 Abnormality of the voice ORPHANET:478 SPRY4 81848 HP:0004349 Reduced bone mineral density ORPHANET:478 SPRY4 81848 HP:0001324 Muscle weakness ORPHANET:478 SPRY4 81848 HP:0002757 Recurrent fractures ORPHANET:478 SPRY4 81848 HP:0008736 Hypoplasia of penis ORPHANET:478 SPRY4 81848 HP:0001761 Pes cavus ORPHANET:478 SPRY4 81848 HP:0002564 Malformation of the heart and great vessels ORPHANET:478 TACR3 6870 HP:0000407 Sensorineural hearing impairment ORPHANET:478 TACR3 6870 HP:0004408 Abnormality of the sense of smell ORPHANET:478 TACR3 6870 HP:0000175 Cleft palate ORPHANET:478 TACR3 6870 HP:0100639 Erectile abnormalities ORPHANET:478 TACR3 6870 HP:0009804 Reduced number of teeth ORPHANET:478 TACR3 6870 HP:0000639 Nystagmus ORPHANET:478 TACR3 6870 HP:0002167 Neurological speech impairment ORPHANET:478 TACR3 6870 HP:0001838 Rocker bottom foot ORPHANET:478 TACR3 6870 HP:0001252 Muscular hypotonia ORPHANET:478 TACR3 6870 HP:0004374 Hemiplegia/hemiparesis ORPHANET:478 TACR3 6870 HP:0000771 Gynecomastia ORPHANET:478 TACR3 6870 HP:0001337 Tremor ORPHANET:478 TACR3 6870 HP:0001513 Obesity ORPHANET:478 TACR3 6870 HP:0000508 Ptosis ORPHANET:478 TACR3 6870 HP:0000505 Visual impairment ORPHANET:478 TACR3 6870 HP:0002652 Skeletal dysplasia ORPHANET:478 TACR3 6870 HP:0001250 Seizures ORPHANET:478 TACR3 6870 HP:0000830 Anterior hypopituitarism ORPHANET:478 TACR3 6870 HP:0002311 Incoordination ORPHANET:478 TACR3 6870 HP:0008064 Ichthyosis ORPHANET:478 TACR3 6870 HP:0008678 Renal hypoplasia/aplasia ORPHANET:478 TACR3 6870 HP:0000144 Decreased fertility ORPHANET:478 TACR3 6870 HP:0001288 Gait disturbance ORPHANET:478 TACR3 6870 HP:0100783 Breast aplasia ORPHANET:478 TACR3 6870 HP:0000786 Primary amenorrhea ORPHANET:478 TACR3 6870 HP:0002750 Delayed skeletal maturation ORPHANET:478 TACR3 6870 HP:0000551 Abnormality of color vision ORPHANET:478 TACR3 6870 HP:0000028 Cryptorchidism ORPHANET:478 TACR3 6870 HP:0001608 Abnormality of the voice ORPHANET:478 TACR3 6870 HP:0004349 Reduced bone mineral density ORPHANET:478 TACR3 6870 HP:0001324 Muscle weakness ORPHANET:478 TACR3 6870 HP:0002757 Recurrent fractures ORPHANET:478 TACR3 6870 HP:0008736 Hypoplasia of penis ORPHANET:478 TACR3 6870 HP:0001761 Pes cavus ORPHANET:478 TACR3 6870 HP:0002564 Malformation of the heart and great vessels ORPHANET:478 FGF8 2253 HP:0000407 Sensorineural hearing impairment ORPHANET:478 FGF8 2253 HP:0004408 Abnormality of the sense of smell ORPHANET:478 FGF8 2253 HP:0000175 Cleft palate ORPHANET:478 FGF8 2253 HP:0100639 Erectile abnormalities ORPHANET:478 FGF8 2253 HP:0009804 Reduced number of teeth ORPHANET:478 FGF8 2253 HP:0000639 Nystagmus ORPHANET:478 FGF8 2253 HP:0002167 Neurological speech impairment ORPHANET:478 FGF8 2253 HP:0001838 Rocker bottom foot ORPHANET:478 FGF8 2253 HP:0001252 Muscular hypotonia ORPHANET:478 FGF8 2253 HP:0004374 Hemiplegia/hemiparesis ORPHANET:478 FGF8 2253 HP:0000771 Gynecomastia ORPHANET:478 FGF8 2253 HP:0001337 Tremor ORPHANET:478 FGF8 2253 HP:0001513 Obesity ORPHANET:478 FGF8 2253 HP:0000508 Ptosis ORPHANET:478 FGF8 2253 HP:0000505 Visual impairment ORPHANET:478 FGF8 2253 HP:0002652 Skeletal dysplasia ORPHANET:478 FGF8 2253 HP:0001250 Seizures ORPHANET:478 FGF8 2253 HP:0000830 Anterior hypopituitarism ORPHANET:478 FGF8 2253 HP:0002311 Incoordination ORPHANET:478 FGF8 2253 HP:0008064 Ichthyosis ORPHANET:478 FGF8 2253 HP:0008678 Renal hypoplasia/aplasia ORPHANET:478 FGF8 2253 HP:0000144 Decreased fertility ORPHANET:478 FGF8 2253 HP:0001288 Gait disturbance ORPHANET:478 FGF8 2253 HP:0100783 Breast aplasia ORPHANET:478 FGF8 2253 HP:0000786 Primary amenorrhea ORPHANET:478 FGF8 2253 HP:0002750 Delayed skeletal maturation ORPHANET:478 FGF8 2253 HP:0000551 Abnormality of color vision ORPHANET:478 FGF8 2253 HP:0000028 Cryptorchidism ORPHANET:478 FGF8 2253 HP:0001608 Abnormality of the voice ORPHANET:478 FGF8 2253 HP:0004349 Reduced bone mineral density ORPHANET:478 FGF8 2253 HP:0001324 Muscle weakness ORPHANET:478 FGF8 2253 HP:0002757 Recurrent fractures ORPHANET:478 FGF8 2253 HP:0008736 Hypoplasia of penis ORPHANET:478 FGF8 2253 HP:0001761 Pes cavus ORPHANET:478 FGF8 2253 HP:0002564 Malformation of the heart and great vessels ORPHANET:478 HS6ST1 9394 HP:0000407 Sensorineural hearing impairment ORPHANET:478 HS6ST1 9394 HP:0004408 Abnormality of the sense of smell ORPHANET:478 HS6ST1 9394 HP:0000175 Cleft palate ORPHANET:478 HS6ST1 9394 HP:0100639 Erectile abnormalities ORPHANET:478 HS6ST1 9394 HP:0009804 Reduced number of teeth ORPHANET:478 HS6ST1 9394 HP:0000639 Nystagmus ORPHANET:478 HS6ST1 9394 HP:0002167 Neurological speech impairment ORPHANET:478 HS6ST1 9394 HP:0001838 Rocker bottom foot ORPHANET:478 HS6ST1 9394 HP:0001252 Muscular hypotonia ORPHANET:478 HS6ST1 9394 HP:0004374 Hemiplegia/hemiparesis ORPHANET:478 HS6ST1 9394 HP:0000771 Gynecomastia ORPHANET:478 HS6ST1 9394 HP:0001337 Tremor ORPHANET:478 HS6ST1 9394 HP:0001513 Obesity ORPHANET:478 HS6ST1 9394 HP:0000508 Ptosis ORPHANET:478 HS6ST1 9394 HP:0000505 Visual impairment ORPHANET:478 HS6ST1 9394 HP:0002652 Skeletal dysplasia ORPHANET:478 HS6ST1 9394 HP:0001250 Seizures ORPHANET:478 HS6ST1 9394 HP:0000830 Anterior hypopituitarism ORPHANET:478 HS6ST1 9394 HP:0002311 Incoordination ORPHANET:478 HS6ST1 9394 HP:0008064 Ichthyosis ORPHANET:478 HS6ST1 9394 HP:0008678 Renal hypoplasia/aplasia ORPHANET:478 HS6ST1 9394 HP:0000144 Decreased fertility ORPHANET:478 HS6ST1 9394 HP:0001288 Gait disturbance ORPHANET:478 HS6ST1 9394 HP:0100783 Breast aplasia ORPHANET:478 HS6ST1 9394 HP:0000786 Primary amenorrhea ORPHANET:478 HS6ST1 9394 HP:0002750 Delayed skeletal maturation ORPHANET:478 HS6ST1 9394 HP:0000551 Abnormality of color vision ORPHANET:478 HS6ST1 9394 HP:0000028 Cryptorchidism ORPHANET:478 HS6ST1 9394 HP:0001608 Abnormality of the voice ORPHANET:478 HS6ST1 9394 HP:0004349 Reduced bone mineral density ORPHANET:478 HS6ST1 9394 HP:0001324 Muscle weakness ORPHANET:478 HS6ST1 9394 HP:0002757 Recurrent fractures ORPHANET:478 HS6ST1 9394 HP:0008736 Hypoplasia of penis ORPHANET:478 HS6ST1 9394 HP:0001761 Pes cavus ORPHANET:478 HS6ST1 9394 HP:0002564 Malformation of the heart and great vessels ORPHANET:478 SOX10 6663 HP:0000407 Sensorineural hearing impairment ORPHANET:478 SOX10 6663 HP:0004408 Abnormality of the sense of smell ORPHANET:478 SOX10 6663 HP:0000175 Cleft palate ORPHANET:478 SOX10 6663 HP:0100639 Erectile abnormalities ORPHANET:478 SOX10 6663 HP:0009804 Reduced number of teeth ORPHANET:478 SOX10 6663 HP:0000639 Nystagmus ORPHANET:478 SOX10 6663 HP:0002167 Neurological speech impairment ORPHANET:478 SOX10 6663 HP:0001838 Rocker bottom foot ORPHANET:478 SOX10 6663 HP:0001252 Muscular hypotonia ORPHANET:478 SOX10 6663 HP:0004374 Hemiplegia/hemiparesis ORPHANET:478 SOX10 6663 HP:0000771 Gynecomastia ORPHANET:478 SOX10 6663 HP:0001337 Tremor ORPHANET:478 SOX10 6663 HP:0001513 Obesity ORPHANET:478 SOX10 6663 HP:0000508 Ptosis ORPHANET:478 SOX10 6663 HP:0000505 Visual impairment ORPHANET:478 SOX10 6663 HP:0002652 Skeletal dysplasia ORPHANET:478 SOX10 6663 HP:0001250 Seizures ORPHANET:478 SOX10 6663 HP:0000830 Anterior hypopituitarism ORPHANET:478 SOX10 6663 HP:0002311 Incoordination ORPHANET:478 SOX10 6663 HP:0008064 Ichthyosis ORPHANET:478 SOX10 6663 HP:0008678 Renal hypoplasia/aplasia ORPHANET:478 SOX10 6663 HP:0000144 Decreased fertility ORPHANET:478 SOX10 6663 HP:0001288 Gait disturbance ORPHANET:478 SOX10 6663 HP:0100783 Breast aplasia ORPHANET:478 SOX10 6663 HP:0000786 Primary amenorrhea ORPHANET:478 SOX10 6663 HP:0002750 Delayed skeletal maturation ORPHANET:478 SOX10 6663 HP:0000551 Abnormality of color vision ORPHANET:478 SOX10 6663 HP:0000028 Cryptorchidism ORPHANET:478 SOX10 6663 HP:0001608 Abnormality of the voice ORPHANET:478 SOX10 6663 HP:0004349 Reduced bone mineral density ORPHANET:478 SOX10 6663 HP:0001324 Muscle weakness ORPHANET:478 SOX10 6663 HP:0002757 Recurrent fractures ORPHANET:478 SOX10 6663 HP:0008736 Hypoplasia of penis ORPHANET:478 SOX10 6663 HP:0001761 Pes cavus ORPHANET:478 SOX10 6663 HP:0002564 Malformation of the heart and great vessels ORPHANET:478 KISS1R 84634 HP:0000407 Sensorineural hearing impairment ORPHANET:478 KISS1R 84634 HP:0004408 Abnormality of the sense of smell ORPHANET:478 KISS1R 84634 HP:0000175 Cleft palate ORPHANET:478 KISS1R 84634 HP:0100639 Erectile abnormalities ORPHANET:478 KISS1R 84634 HP:0009804 Reduced number of teeth ORPHANET:478 KISS1R 84634 HP:0000639 Nystagmus ORPHANET:478 KISS1R 84634 HP:0002167 Neurological speech impairment ORPHANET:478 KISS1R 84634 HP:0001838 Rocker bottom foot ORPHANET:478 KISS1R 84634 HP:0001252 Muscular hypotonia ORPHANET:478 KISS1R 84634 HP:0004374 Hemiplegia/hemiparesis ORPHANET:478 KISS1R 84634 HP:0000771 Gynecomastia ORPHANET:478 KISS1R 84634 HP:0001337 Tremor ORPHANET:478 KISS1R 84634 HP:0001513 Obesity ORPHANET:478 KISS1R 84634 HP:0000508 Ptosis ORPHANET:478 KISS1R 84634 HP:0000505 Visual impairment ORPHANET:478 KISS1R 84634 HP:0002652 Skeletal dysplasia ORPHANET:478 KISS1R 84634 HP:0001250 Seizures ORPHANET:478 KISS1R 84634 HP:0000830 Anterior hypopituitarism ORPHANET:478 KISS1R 84634 HP:0002311 Incoordination ORPHANET:478 KISS1R 84634 HP:0008064 Ichthyosis ORPHANET:478 KISS1R 84634 HP:0008678 Renal hypoplasia/aplasia ORPHANET:478 KISS1R 84634 HP:0000144 Decreased fertility ORPHANET:478 KISS1R 84634 HP:0001288 Gait disturbance ORPHANET:478 KISS1R 84634 HP:0100783 Breast aplasia ORPHANET:478 KISS1R 84634 HP:0000786 Primary amenorrhea ORPHANET:478 KISS1R 84634 HP:0002750 Delayed skeletal maturation ORPHANET:478 KISS1R 84634 HP:0000551 Abnormality of color vision ORPHANET:478 KISS1R 84634 HP:0000028 Cryptorchidism ORPHANET:478 KISS1R 84634 HP:0001608 Abnormality of the voice ORPHANET:478 KISS1R 84634 HP:0004349 Reduced bone mineral density ORPHANET:478 KISS1R 84634 HP:0001324 Muscle weakness ORPHANET:478 KISS1R 84634 HP:0002757 Recurrent fractures ORPHANET:478 KISS1R 84634 HP:0008736 Hypoplasia of penis ORPHANET:478 KISS1R 84634 HP:0001761 Pes cavus ORPHANET:478 KISS1R 84634 HP:0002564 Malformation of the heart and great vessels ORPHANET:478 HESX1 8820 HP:0000407 Sensorineural hearing impairment ORPHANET:478 HESX1 8820 HP:0004408 Abnormality of the sense of smell ORPHANET:478 HESX1 8820 HP:0000175 Cleft palate ORPHANET:478 HESX1 8820 HP:0100639 Erectile abnormalities ORPHANET:478 HESX1 8820 HP:0009804 Reduced number of teeth ORPHANET:478 HESX1 8820 HP:0000639 Nystagmus ORPHANET:478 HESX1 8820 HP:0002167 Neurological speech impairment ORPHANET:478 HESX1 8820 HP:0001838 Rocker bottom foot ORPHANET:478 HESX1 8820 HP:0001252 Muscular hypotonia ORPHANET:478 HESX1 8820 HP:0004374 Hemiplegia/hemiparesis ORPHANET:478 HESX1 8820 HP:0000771 Gynecomastia ORPHANET:478 HESX1 8820 HP:0001337 Tremor ORPHANET:478 HESX1 8820 HP:0001513 Obesity ORPHANET:478 HESX1 8820 HP:0000508 Ptosis ORPHANET:478 HESX1 8820 HP:0000505 Visual impairment ORPHANET:478 HESX1 8820 HP:0002652 Skeletal dysplasia ORPHANET:478 HESX1 8820 HP:0001250 Seizures ORPHANET:478 HESX1 8820 HP:0000830 Anterior hypopituitarism ORPHANET:478 HESX1 8820 HP:0002311 Incoordination ORPHANET:478 HESX1 8820 HP:0008064 Ichthyosis ORPHANET:478 HESX1 8820 HP:0008678 Renal hypoplasia/aplasia ORPHANET:478 HESX1 8820 HP:0000144 Decreased fertility ORPHANET:478 HESX1 8820 HP:0001288 Gait disturbance ORPHANET:478 HESX1 8820 HP:0100783 Breast aplasia ORPHANET:478 HESX1 8820 HP:0000786 Primary amenorrhea ORPHANET:478 HESX1 8820 HP:0002750 Delayed skeletal maturation ORPHANET:478 HESX1 8820 HP:0000551 Abnormality of color vision ORPHANET:478 HESX1 8820 HP:0000028 Cryptorchidism ORPHANET:478 HESX1 8820 HP:0001608 Abnormality of the voice ORPHANET:478 HESX1 8820 HP:0004349 Reduced bone mineral density ORPHANET:478 HESX1 8820 HP:0001324 Muscle weakness ORPHANET:478 HESX1 8820 HP:0002757 Recurrent fractures ORPHANET:478 HESX1 8820 HP:0008736 Hypoplasia of penis ORPHANET:478 HESX1 8820 HP:0001761 Pes cavus ORPHANET:478 HESX1 8820 HP:0002564 Malformation of the heart and great vessels ORPHANET:478 FGF17 8822 HP:0000407 Sensorineural hearing impairment ORPHANET:478 FGF17 8822 HP:0004408 Abnormality of the sense of smell ORPHANET:478 FGF17 8822 HP:0000175 Cleft palate ORPHANET:478 FGF17 8822 HP:0100639 Erectile abnormalities ORPHANET:478 FGF17 8822 HP:0009804 Reduced number of teeth ORPHANET:478 FGF17 8822 HP:0000639 Nystagmus ORPHANET:478 FGF17 8822 HP:0002167 Neurological speech impairment ORPHANET:478 FGF17 8822 HP:0001838 Rocker bottom foot ORPHANET:478 FGF17 8822 HP:0001252 Muscular hypotonia ORPHANET:478 FGF17 8822 HP:0004374 Hemiplegia/hemiparesis ORPHANET:478 FGF17 8822 HP:0000771 Gynecomastia ORPHANET:478 FGF17 8822 HP:0001337 Tremor ORPHANET:478 FGF17 8822 HP:0001513 Obesity ORPHANET:478 FGF17 8822 HP:0000508 Ptosis ORPHANET:478 FGF17 8822 HP:0000505 Visual impairment ORPHANET:478 FGF17 8822 HP:0002652 Skeletal dysplasia ORPHANET:478 FGF17 8822 HP:0001250 Seizures ORPHANET:478 FGF17 8822 HP:0000830 Anterior hypopituitarism ORPHANET:478 FGF17 8822 HP:0002311 Incoordination ORPHANET:478 FGF17 8822 HP:0008064 Ichthyosis ORPHANET:478 FGF17 8822 HP:0008678 Renal hypoplasia/aplasia ORPHANET:478 FGF17 8822 HP:0000144 Decreased fertility ORPHANET:478 FGF17 8822 HP:0001288 Gait disturbance ORPHANET:478 FGF17 8822 HP:0100783 Breast aplasia ORPHANET:478 FGF17 8822 HP:0000786 Primary amenorrhea ORPHANET:478 FGF17 8822 HP:0002750 Delayed skeletal maturation ORPHANET:478 FGF17 8822 HP:0000551 Abnormality of color vision ORPHANET:478 FGF17 8822 HP:0000028 Cryptorchidism ORPHANET:478 FGF17 8822 HP:0001608 Abnormality of the voice ORPHANET:478 FGF17 8822 HP:0004349 Reduced bone mineral density ORPHANET:478 FGF17 8822 HP:0001324 Muscle weakness ORPHANET:478 FGF17 8822 HP:0002757 Recurrent fractures ORPHANET:478 FGF17 8822 HP:0008736 Hypoplasia of penis ORPHANET:478 FGF17 8822 HP:0001761 Pes cavus ORPHANET:478 FGF17 8822 HP:0002564 Malformation of the heart and great vessels ORPHANET:478 SEMA3A 10371 HP:0000407 Sensorineural hearing impairment ORPHANET:478 SEMA3A 10371 HP:0004408 Abnormality of the sense of smell ORPHANET:478 SEMA3A 10371 HP:0000175 Cleft palate ORPHANET:478 SEMA3A 10371 HP:0100639 Erectile abnormalities ORPHANET:478 SEMA3A 10371 HP:0009804 Reduced number of teeth ORPHANET:478 SEMA3A 10371 HP:0000639 Nystagmus ORPHANET:478 SEMA3A 10371 HP:0002167 Neurological speech impairment ORPHANET:478 SEMA3A 10371 HP:0001838 Rocker bottom foot ORPHANET:478 SEMA3A 10371 HP:0001252 Muscular hypotonia ORPHANET:478 SEMA3A 10371 HP:0004374 Hemiplegia/hemiparesis ORPHANET:478 SEMA3A 10371 HP:0000771 Gynecomastia ORPHANET:478 SEMA3A 10371 HP:0001337 Tremor ORPHANET:478 SEMA3A 10371 HP:0001513 Obesity ORPHANET:478 SEMA3A 10371 HP:0000508 Ptosis ORPHANET:478 SEMA3A 10371 HP:0000505 Visual impairment ORPHANET:478 SEMA3A 10371 HP:0002652 Skeletal dysplasia ORPHANET:478 SEMA3A 10371 HP:0001250 Seizures ORPHANET:478 SEMA3A 10371 HP:0000830 Anterior hypopituitarism ORPHANET:478 SEMA3A 10371 HP:0002311 Incoordination ORPHANET:478 SEMA3A 10371 HP:0008064 Ichthyosis ORPHANET:478 SEMA3A 10371 HP:0008678 Renal hypoplasia/aplasia ORPHANET:478 SEMA3A 10371 HP:0000144 Decreased fertility ORPHANET:478 SEMA3A 10371 HP:0001288 Gait disturbance ORPHANET:478 SEMA3A 10371 HP:0100783 Breast aplasia ORPHANET:478 SEMA3A 10371 HP:0000786 Primary amenorrhea ORPHANET:478 SEMA3A 10371 HP:0002750 Delayed skeletal maturation ORPHANET:478 SEMA3A 10371 HP:0000551 Abnormality of color vision ORPHANET:478 SEMA3A 10371 HP:0000028 Cryptorchidism ORPHANET:478 SEMA3A 10371 HP:0001608 Abnormality of the voice ORPHANET:478 SEMA3A 10371 HP:0004349 Reduced bone mineral density ORPHANET:478 SEMA3A 10371 HP:0001324 Muscle weakness ORPHANET:478 SEMA3A 10371 HP:0002757 Recurrent fractures ORPHANET:478 SEMA3A 10371 HP:0008736 Hypoplasia of penis ORPHANET:478 SEMA3A 10371 HP:0001761 Pes cavus ORPHANET:478 SEMA3A 10371 HP:0002564 Malformation of the heart and great vessels ORPHANET:478 PROKR2 128674 HP:0000407 Sensorineural hearing impairment ORPHANET:478 PROKR2 128674 HP:0004408 Abnormality of the sense of smell ORPHANET:478 PROKR2 128674 HP:0000175 Cleft palate ORPHANET:478 PROKR2 128674 HP:0100639 Erectile abnormalities ORPHANET:478 PROKR2 128674 HP:0009804 Reduced number of teeth ORPHANET:478 PROKR2 128674 HP:0000639 Nystagmus ORPHANET:478 PROKR2 128674 HP:0002167 Neurological speech impairment ORPHANET:478 PROKR2 128674 HP:0001838 Rocker bottom foot ORPHANET:478 PROKR2 128674 HP:0001252 Muscular hypotonia ORPHANET:478 PROKR2 128674 HP:0004374 Hemiplegia/hemiparesis ORPHANET:478 PROKR2 128674 HP:0000771 Gynecomastia ORPHANET:478 PROKR2 128674 HP:0001337 Tremor ORPHANET:478 PROKR2 128674 HP:0001513 Obesity ORPHANET:478 PROKR2 128674 HP:0000508 Ptosis ORPHANET:478 PROKR2 128674 HP:0000505 Visual impairment ORPHANET:478 PROKR2 128674 HP:0002652 Skeletal dysplasia ORPHANET:478 PROKR2 128674 HP:0001250 Seizures ORPHANET:478 PROKR2 128674 HP:0000830 Anterior hypopituitarism ORPHANET:478 PROKR2 128674 HP:0002311 Incoordination ORPHANET:478 PROKR2 128674 HP:0008064 Ichthyosis ORPHANET:478 PROKR2 128674 HP:0008678 Renal hypoplasia/aplasia ORPHANET:478 PROKR2 128674 HP:0000144 Decreased fertility ORPHANET:478 PROKR2 128674 HP:0001288 Gait disturbance ORPHANET:478 PROKR2 128674 HP:0100783 Breast aplasia ORPHANET:478 PROKR2 128674 HP:0000786 Primary amenorrhea ORPHANET:478 PROKR2 128674 HP:0002750 Delayed skeletal maturation ORPHANET:478 PROKR2 128674 HP:0000551 Abnormality of color vision ORPHANET:478 PROKR2 128674 HP:0000028 Cryptorchidism ORPHANET:478 PROKR2 128674 HP:0001608 Abnormality of the voice ORPHANET:478 PROKR2 128674 HP:0004349 Reduced bone mineral density ORPHANET:478 PROKR2 128674 HP:0001324 Muscle weakness ORPHANET:478 PROKR2 128674 HP:0002757 Recurrent fractures ORPHANET:478 PROKR2 128674 HP:0008736 Hypoplasia of penis ORPHANET:478 PROKR2 128674 HP:0001761 Pes cavus ORPHANET:478 PROKR2 128674 HP:0002564 Malformation of the heart and great vessels ORPHANET:478 IL17RD 54756 HP:0000407 Sensorineural hearing impairment ORPHANET:478 IL17RD 54756 HP:0004408 Abnormality of the sense of smell ORPHANET:478 IL17RD 54756 HP:0000175 Cleft palate ORPHANET:478 IL17RD 54756 HP:0100639 Erectile abnormalities ORPHANET:478 IL17RD 54756 HP:0009804 Reduced number of teeth ORPHANET:478 IL17RD 54756 HP:0000639 Nystagmus ORPHANET:478 IL17RD 54756 HP:0002167 Neurological speech impairment ORPHANET:478 IL17RD 54756 HP:0001838 Rocker bottom foot ORPHANET:478 IL17RD 54756 HP:0001252 Muscular hypotonia ORPHANET:478 IL17RD 54756 HP:0004374 Hemiplegia/hemiparesis ORPHANET:478 IL17RD 54756 HP:0000771 Gynecomastia ORPHANET:478 IL17RD 54756 HP:0001337 Tremor ORPHANET:478 IL17RD 54756 HP:0001513 Obesity ORPHANET:478 IL17RD 54756 HP:0000508 Ptosis ORPHANET:478 IL17RD 54756 HP:0000505 Visual impairment ORPHANET:478 IL17RD 54756 HP:0002652 Skeletal dysplasia ORPHANET:478 IL17RD 54756 HP:0001250 Seizures ORPHANET:478 IL17RD 54756 HP:0000830 Anterior hypopituitarism ORPHANET:478 IL17RD 54756 HP:0002311 Incoordination ORPHANET:478 IL17RD 54756 HP:0008064 Ichthyosis ORPHANET:478 IL17RD 54756 HP:0008678 Renal hypoplasia/aplasia ORPHANET:478 IL17RD 54756 HP:0000144 Decreased fertility ORPHANET:478 IL17RD 54756 HP:0001288 Gait disturbance ORPHANET:478 IL17RD 54756 HP:0100783 Breast aplasia ORPHANET:478 IL17RD 54756 HP:0000786 Primary amenorrhea ORPHANET:478 IL17RD 54756 HP:0002750 Delayed skeletal maturation ORPHANET:478 IL17RD 54756 HP:0000551 Abnormality of color vision ORPHANET:478 IL17RD 54756 HP:0000028 Cryptorchidism ORPHANET:478 IL17RD 54756 HP:0001608 Abnormality of the voice ORPHANET:478 IL17RD 54756 HP:0004349 Reduced bone mineral density ORPHANET:478 IL17RD 54756 HP:0001324 Muscle weakness ORPHANET:478 IL17RD 54756 HP:0002757 Recurrent fractures ORPHANET:478 IL17RD 54756 HP:0008736 Hypoplasia of penis ORPHANET:478 IL17RD 54756 HP:0001761 Pes cavus ORPHANET:478 IL17RD 54756 HP:0002564 Malformation of the heart and great vessels ORPHANET:478 CHD7 55636 HP:0000407 Sensorineural hearing impairment ORPHANET:478 CHD7 55636 HP:0004408 Abnormality of the sense of smell ORPHANET:478 CHD7 55636 HP:0000175 Cleft palate ORPHANET:478 CHD7 55636 HP:0100639 Erectile abnormalities ORPHANET:478 CHD7 55636 HP:0009804 Reduced number of teeth ORPHANET:478 CHD7 55636 HP:0000639 Nystagmus ORPHANET:478 CHD7 55636 HP:0002167 Neurological speech impairment ORPHANET:478 CHD7 55636 HP:0001838 Rocker bottom foot ORPHANET:478 CHD7 55636 HP:0001252 Muscular hypotonia ORPHANET:478 CHD7 55636 HP:0004374 Hemiplegia/hemiparesis ORPHANET:478 CHD7 55636 HP:0000771 Gynecomastia ORPHANET:478 CHD7 55636 HP:0001337 Tremor ORPHANET:478 CHD7 55636 HP:0001513 Obesity ORPHANET:478 CHD7 55636 HP:0000508 Ptosis ORPHANET:478 CHD7 55636 HP:0000505 Visual impairment ORPHANET:478 CHD7 55636 HP:0002652 Skeletal dysplasia ORPHANET:478 CHD7 55636 HP:0001250 Seizures ORPHANET:478 CHD7 55636 HP:0000830 Anterior hypopituitarism ORPHANET:478 CHD7 55636 HP:0002311 Incoordination ORPHANET:478 CHD7 55636 HP:0008064 Ichthyosis ORPHANET:478 CHD7 55636 HP:0008678 Renal hypoplasia/aplasia ORPHANET:478 CHD7 55636 HP:0000144 Decreased fertility ORPHANET:478 CHD7 55636 HP:0001288 Gait disturbance ORPHANET:478 CHD7 55636 HP:0100783 Breast aplasia ORPHANET:478 CHD7 55636 HP:0000786 Primary amenorrhea ORPHANET:478 CHD7 55636 HP:0002750 Delayed skeletal maturation ORPHANET:478 CHD7 55636 HP:0000551 Abnormality of color vision ORPHANET:478 CHD7 55636 HP:0000028 Cryptorchidism ORPHANET:478 CHD7 55636 HP:0001608 Abnormality of the voice ORPHANET:478 CHD7 55636 HP:0004349 Reduced bone mineral density ORPHANET:478 CHD7 55636 HP:0001324 Muscle weakness ORPHANET:478 CHD7 55636 HP:0002757 Recurrent fractures ORPHANET:478 CHD7 55636 HP:0008736 Hypoplasia of penis ORPHANET:478 CHD7 55636 HP:0001761 Pes cavus ORPHANET:478 CHD7 55636 HP:0002564 Malformation of the heart and great vessels OMIM:614473 ABCC6 368 HP:0004912 Hypophosphatemic rickets OMIM:614473 ABCC6 368 HP:0000007 Autosomal recessive inheritance OMIM:614473 ABCC6 368 HP:0001658 Myocardial infarction OMIM:614473 ABCC6 368 HP:0000822 Hypertension OMIM:614473 ABCC6 368 HP:0001717 Coronary artery calcification OMIM:614473 ABCC6 368 HP:0001635 Congestive heart failure OMIM:614473 ABCC6 368 HP:0000121 Nephrocalcinosis OMIM:125853 GCK 2645 HP:0003584 Late onset OMIM:125853 GCK 2645 HP:0005978 Type II diabetes mellitus OMIM:125853 GCK 2645 HP:0000006 Autosomal dominant inheritance OMIM:125853 GCK 2645 HP:0000855 Insulin resistance OMIM:125853 HNF1B 6928 HP:0003584 Late onset OMIM:125853 HNF1B 6928 HP:0005978 Type II diabetes mellitus OMIM:125853 HNF1B 6928 HP:0000006 Autosomal dominant inheritance OMIM:125853 HNF1B 6928 HP:0000855 Insulin resistance OMIM:125853 HNF4A 3172 HP:0003584 Late onset OMIM:125853 HNF4A 3172 HP:0005978 Type II diabetes mellitus OMIM:125853 HNF4A 3172 HP:0000006 Autosomal dominant inheritance OMIM:125853 HNF4A 3172 HP:0000855 Insulin resistance OMIM:125853 HMGA1 3159 HP:0003584 Late onset OMIM:125853 HMGA1 3159 HP:0005978 Type II diabetes mellitus OMIM:125853 HMGA1 3159 HP:0000006 Autosomal dominant inheritance OMIM:125853 HMGA1 3159 HP:0000855 Insulin resistance OMIM:125853 AKT2 208 HP:0003584 Late onset OMIM:125853 AKT2 208 HP:0005978 Type II diabetes mellitus OMIM:125853 AKT2 208 HP:0000006 Autosomal dominant inheritance OMIM:125853 AKT2 208 HP:0000855 Insulin resistance OMIM:125853 PAX4 5078 HP:0003584 Late onset OMIM:125853 PAX4 5078 HP:0005978 Type II diabetes mellitus OMIM:125853 PAX4 5078 HP:0000006 Autosomal dominant inheritance OMIM:125853 PAX4 5078 HP:0000855 Insulin resistance OMIM:125853 ABCC8 6833 HP:0003584 Late onset OMIM:125853 ABCC8 6833 HP:0005978 Type II diabetes mellitus OMIM:125853 ABCC8 6833 HP:0000006 Autosomal dominant inheritance OMIM:125853 ABCC8 6833 HP:0000855 Insulin resistance OMIM:613155 POMT1 10585 HP:0010628 Facial palsy OMIM:613155 POMT1 10585 HP:0000007 Autosomal recessive inheritance OMIM:613155 POMT1 10585 HP:0002280 Enlarged cisterna magna OMIM:613155 POMT1 10585 HP:0000252 Microcephaly OMIM:613155 POMT1 10585 HP:0002540 Inability to walk OMIM:613155 POMT1 10585 HP:0000519 Congenital cataract OMIM:613155 POMT1 10585 HP:0001321 Cerebellar hypoplasia OMIM:613155 POMT1 10585 HP:0001371 Flexion contracture OMIM:613155 POMT1 10585 HP:0000556 Retinal dystrophy OMIM:613155 POMT1 10585 HP:0001638 Cardiomyopathy OMIM:613155 POMT1 10585 HP:0003593 Infantile onset OMIM:613155 POMT1 10585 HP:0000158 Macroglossia OMIM:613155 POMT1 10585 HP:0003741 Congenital muscular dystrophy OMIM:613155 POMT1 10585 HP:0002079 Hypoplasia of the corpus callosum OMIM:613155 POMT1 10585 HP:0001263 Global developmental delay OMIM:613155 POMT1 10585 HP:0010864 Intellectual disability, severe OMIM:613155 POMT1 10585 HP:0001344 Absent speech OMIM:613155 POMT1 10585 HP:0000545 Myopia OMIM:613155 POMT1 10585 HP:0007033 Cerebellar dysplasia OMIM:613155 POMT1 10585 HP:0003236 Elevated serum creatine phosphokinase OMIM:607801 CAV3 859 HP:0000006 Autosomal dominant inheritance OMIM:607801 CAV3 859 HP:0003560 Muscular dystrophy OMIM:607801 CAV3 859 HP:0008981 Calf muscle hypertrophy OMIM:607801 CAV3 859 HP:0011463 Childhood onset OMIM:607801 CAV3 859 HP:0003391 Gowers sign OMIM:607801 CAV3 859 HP:0000007 Autosomal recessive inheritance OMIM:607801 CAV3 859 HP:0003326 Myalgia OMIM:607801 CAV3 859 HP:0003236 Elevated serum creatine phosphokinase OMIM:607801 CAV3 859 HP:0003394 Muscle cramps OMIM:600072 PRNP 5621 HP:0002459 Dysautonomia OMIM:600072 PRNP 5621 HP:0001945 Fever OMIM:600072 PRNP 5621 HP:0002529 Neuronal loss in central nervous system OMIM:600072 PRNP 5621 HP:0011463 Childhood onset OMIM:600072 PRNP 5621 HP:0002104 Apnea OMIM:600072 PRNP 5621 HP:0002015 Dysphagia OMIM:600072 PRNP 5621 HP:0002019 Constipation OMIM:600072 PRNP 5621 HP:0000726 Dementia OMIM:600072 PRNP 5621 HP:0000975 Hyperhidrosis OMIM:600072 PRNP 5621 HP:0001251 Ataxia OMIM:600072 PRNP 5621 HP:0000651 Diplopia OMIM:600072 PRNP 5621 HP:0000006 Autosomal dominant inheritance OMIM:600072 PRNP 5621 HP:0003581 Adult onset OMIM:600072 PRNP 5621 HP:0000016 Urinary retention OMIM:600072 PRNP 5621 HP:0001336 Myoclonus OMIM:600072 PRNP 5621 HP:0100785 Insomnia OMIM:600072 PRNP 5621 HP:0001260 Dysarthria OMIM:600072 PRNP 5621 HP:0001824 Weight loss OMIM:273300 KIT 3815 HP:0001939 Abnormality of metabolism/homeostasis OMIM:273300 KIT 3815 HP:0009792 Teratoma OMIM:273300 KIT 3815 HP:0000133 Gonadal dysgenesis OMIM:273300 KIT 3815 HP:0003745 Sporadic OMIM:273300 KIT 3815 HP:0000028 Cryptorchidism OMIM:273300 STK11 6794 HP:0001939 Abnormality of metabolism/homeostasis OMIM:273300 STK11 6794 HP:0009792 Teratoma OMIM:273300 STK11 6794 HP:0000133 Gonadal dysgenesis OMIM:273300 STK11 6794 HP:0003745 Sporadic OMIM:273300 STK11 6794 HP:0000028 Cryptorchidism OMIM:273300 FGFR3 2261 HP:0001939 Abnormality of metabolism/homeostasis OMIM:273300 FGFR3 2261 HP:0009792 Teratoma OMIM:273300 FGFR3 2261 HP:0000133 Gonadal dysgenesis OMIM:273300 FGFR3 2261 HP:0003745 Sporadic OMIM:273300 FGFR3 2261 HP:0000028 Cryptorchidism OMIM:609015 HADHB 3032 HP:0001560 Abnormality of the amniotic fluid OMIM:609015 HADHB 3032 HP:0003201 Rhabdomyolysis OMIM:609015 HADHB 3032 HP:0001252 Muscular hypotonia OMIM:609015 HADHB 3032 HP:0001508 Failure to thrive OMIM:609015 HADHB 3032 HP:0001644 Dilated cardiomyopathy OMIM:609015 HADHB 3032 HP:0000007 Autosomal recessive inheritance OMIM:609015 HADHB 3032 HP:0002686 Prenatal maternal abnormality OMIM:609015 HADHB 3032 HP:0001518 Small for gestational age OMIM:609015 HADHB 3032 HP:0002910 Elevated hepatic transaminases OMIM:609015 HADHB 3032 HP:0003326 Myalgia OMIM:609015 HADHB 3032 HP:0003324 Generalized muscle weakness OMIM:609015 HADHB 3032 HP:0001263 Global developmental delay OMIM:609015 HADHB 3032 HP:0003128 Lactic acidosis OMIM:609015 HADHB 3032 HP:0000580 Pigmentary retinopathy OMIM:609015 HADHB 3032 HP:0001635 Congestive heart failure OMIM:609015 HADHB 3032 HP:0002913 Myoglobinuria OMIM:609015 HADHB 3032 HP:0000488 Retinopathy OMIM:609015 HADHB 3032 HP:0001987 Hyperammonemia OMIM:609015 HADHB 3032 HP:0001789 Hydrops fetalis OMIM:609015 HADHB 3032 HP:0009830 Peripheral neuropathy OMIM:609015 HADHB 3032 HP:0002878 Respiratory failure OMIM:609015 HADHB 3032 HP:0001985 Hypoketotic hypoglycemia OMIM:609015 HADHA 3030 HP:0001560 Abnormality of the amniotic fluid OMIM:609015 HADHA 3030 HP:0003201 Rhabdomyolysis OMIM:609015 HADHA 3030 HP:0001252 Muscular hypotonia OMIM:609015 HADHA 3030 HP:0001508 Failure to thrive OMIM:609015 HADHA 3030 HP:0001644 Dilated cardiomyopathy OMIM:609015 HADHA 3030 HP:0000007 Autosomal recessive inheritance OMIM:609015 HADHA 3030 HP:0002686 Prenatal maternal abnormality OMIM:609015 HADHA 3030 HP:0001518 Small for gestational age OMIM:609015 HADHA 3030 HP:0002910 Elevated hepatic transaminases OMIM:609015 HADHA 3030 HP:0003326 Myalgia OMIM:609015 HADHA 3030 HP:0003324 Generalized muscle weakness OMIM:609015 HADHA 3030 HP:0001263 Global developmental delay OMIM:609015 HADHA 3030 HP:0003128 Lactic acidosis OMIM:609015 HADHA 3030 HP:0000580 Pigmentary retinopathy OMIM:609015 HADHA 3030 HP:0001635 Congestive heart failure OMIM:609015 HADHA 3030 HP:0002913 Myoglobinuria OMIM:609015 HADHA 3030 HP:0000488 Retinopathy OMIM:609015 HADHA 3030 HP:0001987 Hyperammonemia OMIM:609015 HADHA 3030 HP:0001789 Hydrops fetalis OMIM:609015 HADHA 3030 HP:0009830 Peripheral neuropathy OMIM:609015 HADHA 3030 HP:0002878 Respiratory failure OMIM:609015 HADHA 3030 HP:0001985 Hypoketotic hypoglycemia OMIM:616095 SLC16A1 6566 HP:0012734 Ketotic hypoglycemia OMIM:616095 SLC16A1 6566 HP:0001993 Ketoacidosis OMIM:616095 SLC16A1 6566 HP:0011968 Feeding difficulties OMIM:610021 SLC16A1 6566 HP:0001325 Hypoglycemic coma OMIM:610021 SLC16A1 6566 HP:0004510 Pancreatic islet-cell hyperplasia OMIM:610021 SLC16A1 6566 HP:0002173 Hypoglycemic seizures OMIM:610021 SLC16A1 6566 HP:0000006 Autosomal dominant inheritance OMIM:610021 SLC16A1 6566 HP:0000825 Hyperinsulinemic hypoglycemia OMIM:614420 DNASE1L3 1776 HP:0002725 Systemic lupus erythematosus OMIM:614420 DNASE1L3 1776 HP:0000123 Nephritis OMIM:614420 DNASE1L3 1776 HP:0000007 Autosomal recessive inheritance ORPHANET:906 WAS 7454 HP:0000246 Sinusitis ORPHANET:906 WAS 7454 HP:0001369 Arthritis ORPHANET:906 WAS 7454 HP:0200042 Skin ulcer ORPHANET:906 WAS 7454 HP:0002205 Recurrent respiratory infections ORPHANET:906 WAS 7454 HP:0000112 Nephropathy ORPHANET:906 WAS 7454 HP:0100749 Chest pain ORPHANET:906 WAS 7454 HP:0001928 Abnormality of coagulation ORPHANET:906 WAS 7454 HP:0002633 Vasculitis ORPHANET:906 WAS 7454 HP:0000140 Abnormality of the menstrual cycle ORPHANET:906 WAS 7454 HP:0002170 Intracranial hemorrhage ORPHANET:906 WAS 7454 HP:0001287 Meningitis ORPHANET:906 WAS 7454 HP:0004370 Abnormality of temperature regulation ORPHANET:906 WAS 7454 HP:0002960 Autoimmunity ORPHANET:906 WAS 7454 HP:0001874 Abnormality of neutrophils ORPHANET:906 WAS 7454 HP:0001909 Leukemia ORPHANET:906 WAS 7454 HP:0000388 Otitis media ORPHANET:906 WAS 7454 HP:0009830 Peripheral neuropathy ORPHANET:906 WAS 7454 HP:0002665 Lymphoma ORPHANET:906 WAS 7454 HP:0000978 Bruising susceptibility ORPHANET:906 WAS 7454 HP:0002383 Encephalitis ORPHANET:906 WAS 7454 HP:0001025 Urticaria ORPHANET:906 WAS 7454 HP:0007420 Spontaneous hematomas ORPHANET:906 WAS 7454 HP:0001935 Microcytic anemia ORPHANET:906 WAS 7454 HP:0100806 Sepsis ORPHANET:906 WAS 7454 HP:0000421 Epistaxis ORPHANET:906 WAS 7454 HP:0002093 Respiratory insufficiency ORPHANET:906 WAS 7454 HP:0002204 Pulmonary embolism ORPHANET:906 WAS 7454 HP:0001645 Sudden cardiac death ORPHANET:906 WAS 7454 HP:0100820 Glomerulopathy ORPHANET:906 WAS 7454 HP:0000225 Gingival bleeding ORPHANET:906 WAS 7454 HP:0100543 Cognitive impairment ORPHANET:906 WAS 7454 HP:0001878 Hemolytic anemia ORPHANET:906 WAS 7454 HP:0010515 Aplasia/Hypoplasia of the thymus ORPHANET:906 WAS 7454 HP:0001873 Thrombocytopenia ORPHANET:906 WAS 7454 HP:0100533 Inflammatory abnormality of the eye ORPHANET:906 WAS 7454 HP:0002037 Inflammation of the large intestine ORPHANET:906 WAS 7454 HP:0006510 Chronic obstructive pulmonary disease ORPHANET:906 WAS 7454 HP:0100774 Hyperostosis ORPHANET:906 WIPF1 7456 HP:0000246 Sinusitis ORPHANET:906 WIPF1 7456 HP:0001369 Arthritis ORPHANET:906 WIPF1 7456 HP:0200042 Skin ulcer ORPHANET:906 WIPF1 7456 HP:0002205 Recurrent respiratory infections ORPHANET:906 WIPF1 7456 HP:0000112 Nephropathy ORPHANET:906 WIPF1 7456 HP:0100749 Chest pain ORPHANET:906 WIPF1 7456 HP:0001928 Abnormality of coagulation ORPHANET:906 WIPF1 7456 HP:0002633 Vasculitis ORPHANET:906 WIPF1 7456 HP:0000140 Abnormality of the menstrual cycle ORPHANET:906 WIPF1 7456 HP:0002170 Intracranial hemorrhage ORPHANET:906 WIPF1 7456 HP:0001287 Meningitis ORPHANET:906 WIPF1 7456 HP:0004370 Abnormality of temperature regulation ORPHANET:906 WIPF1 7456 HP:0002960 Autoimmunity ORPHANET:906 WIPF1 7456 HP:0001874 Abnormality of neutrophils ORPHANET:906 WIPF1 7456 HP:0001909 Leukemia ORPHANET:906 WIPF1 7456 HP:0000388 Otitis media ORPHANET:906 WIPF1 7456 HP:0009830 Peripheral neuropathy ORPHANET:906 WIPF1 7456 HP:0002665 Lymphoma ORPHANET:906 WIPF1 7456 HP:0000978 Bruising susceptibility ORPHANET:906 WIPF1 7456 HP:0002383 Encephalitis ORPHANET:906 WIPF1 7456 HP:0001025 Urticaria ORPHANET:906 WIPF1 7456 HP:0007420 Spontaneous hematomas ORPHANET:906 WIPF1 7456 HP:0001935 Microcytic anemia ORPHANET:906 WIPF1 7456 HP:0100806 Sepsis ORPHANET:906 WIPF1 7456 HP:0000421 Epistaxis ORPHANET:906 WIPF1 7456 HP:0002093 Respiratory insufficiency ORPHANET:906 WIPF1 7456 HP:0002204 Pulmonary embolism ORPHANET:906 WIPF1 7456 HP:0001645 Sudden cardiac death ORPHANET:906 WIPF1 7456 HP:0100820 Glomerulopathy ORPHANET:906 WIPF1 7456 HP:0000225 Gingival bleeding ORPHANET:906 WIPF1 7456 HP:0100543 Cognitive impairment ORPHANET:906 WIPF1 7456 HP:0001878 Hemolytic anemia ORPHANET:906 WIPF1 7456 HP:0010515 Aplasia/Hypoplasia of the thymus ORPHANET:906 WIPF1 7456 HP:0001873 Thrombocytopenia ORPHANET:906 WIPF1 7456 HP:0100533 Inflammatory abnormality of the eye ORPHANET:906 WIPF1 7456 HP:0002037 Inflammation of the large intestine ORPHANET:906 WIPF1 7456 HP:0006510 Chronic obstructive pulmonary disease ORPHANET:906 WIPF1 7456 HP:0100774 Hyperostosis OMIM:166300 MAFB 9935 HP:0000083 Renal insufficiency OMIM:166300 MAFB 9935 HP:0001495 Carpal osteolysis OMIM:166300 MAFB 9935 HP:0002829 Arthralgia OMIM:166300 MAFB 9935 HP:0005930 Abnormality of epiphysis morphology OMIM:166300 MAFB 9935 HP:0000520 Proptosis OMIM:166300 MAFB 9935 HP:0000347 Micrognathia OMIM:166300 MAFB 9935 HP:0001288 Gait disturbance OMIM:166300 MAFB 9935 HP:0000093 Proteinuria OMIM:166300 MAFB 9935 HP:0006234 Osteolysis involving tarsal bones OMIM:166300 MAFB 9935 HP:0004325 Decreased body weight OMIM:166300 MAFB 9935 HP:0001193 Ulnar deviation of the hand or of fingers of the hand OMIM:166300 MAFB 9935 HP:0000431 Wide nasal bridge OMIM:166300 MAFB 9935 HP:0000112 Nephropathy OMIM:166300 MAFB 9935 HP:0001785 Ankle swelling OMIM:166300 MAFB 9935 HP:0000327 Hypoplasia of the maxilla OMIM:166300 MAFB 9935 HP:0003457 EMG abnormality OMIM:166300 MAFB 9935 HP:0003202 Skeletal muscle atrophy OMIM:166300 MAFB 9935 HP:0001761 Pes cavus OMIM:166300 MAFB 9935 HP:0001561 Polyhydramnios OMIM:166300 MAFB 9935 HP:0001504 Metacarpal osteolysis OMIM:166300 MAFB 9935 HP:0000506 Telecanthus OMIM:166300 MAFB 9935 HP:0000006 Autosomal dominant inheritance OMIM:166300 MAFB 9935 HP:0001473 Metatarsal osteolysis OMIM:166300 MAFB 9935 HP:0001225 Wrist swelling OMIM:166300 MAFB 9935 HP:0000938 Osteopenia OMIM:166300 MAFB 9935 HP:0000822 Hypertension OMIM:166300 MAFB 9935 HP:0003100 Slender long bone OMIM:166300 MAFB 9935 HP:0002714 Downturned corners of mouth OMIM:166300 MAFB 9935 HP:0001163 Abnormality of the metacarpal bones OMIM:166300 MAFB 9935 HP:0001376 Limitation of joint mobility OMIM:166300 MAFB 9935 HP:0100490 Camptodactyly of finger OMIM:166300 MAFB 9935 HP:0000325 Triangular face OMIM:149400 GLRA1 2741 HP:0002835 Aspiration OMIM:149400 GLRA1 2741 HP:0001336 Myoclonus OMIM:149400 GLRA1 2741 HP:0002827 Hip dislocation OMIM:149400 GLRA1 2741 HP:0002375 Hypokinesia OMIM:149400 GLRA1 2741 HP:0001250 Seizures OMIM:149400 GLRA1 2741 HP:0002267 Exaggerated startle response OMIM:149400 GLRA1 2741 HP:0000007 Autosomal recessive inheritance OMIM:149400 GLRA1 2741 HP:0003593 Infantile onset OMIM:149400 GLRA1 2741 HP:0002359 Frequent falls OMIM:149400 GLRA1 2741 HP:0001276 Hypertonia OMIM:149400 GLRA1 2741 HP:0001537 Umbilical hernia OMIM:149400 GLRA1 2741 HP:0000023 Inguinal hernia OMIM:149400 GLRA1 2741 HP:0000006 Autosomal dominant inheritance OMIM:149400 GLRA1 2741 HP:0002104 Apnea OMIM:613464 TTC8 123016 HP:0008323 Abnormal rod and cone electroretinograms OMIM:613464 TTC8 123016 HP:0007843 Attenuation of retinal blood vessels OMIM:613464 TTC8 123016 HP:0007737 Bony spicule pigmentary retinopathy OMIM:613464 TTC8 123016 HP:0000007 Autosomal recessive inheritance OMIM:613464 TTC8 123016 HP:0000510 Retinitis pigmentosa OMIM:613464 TTC8 123016 HP:0000505 Visual impairment ORPHANET:618 CDKN2D 1032 HP:0100763 Abnormality of the lymphatic system ORPHANET:618 CDKN2D 1032 HP:0006753 Neoplasm of the stomach ORPHANET:618 CDKN2D 1032 HP:0000488 Retinopathy ORPHANET:618 CDKN2D 1032 HP:0100013 Neoplasm of the breast ORPHANET:618 CDKN2D 1032 HP:0001480 Freckling ORPHANET:618 CDKN2D 1032 HP:0000958 Dry skin ORPHANET:618 CDKN2D 1032 HP:0002894 Neoplasm of the pancreas ORPHANET:618 CDKN2D 1032 HP:0002861 Melanoma ORPHANET:618 CDKN2D 1032 HP:0002071 Abnormality of extrapyramidal motor function ORPHANET:618 CDK4 1019 HP:0100763 Abnormality of the lymphatic system ORPHANET:618 CDK4 1019 HP:0006753 Neoplasm of the stomach ORPHANET:618 CDK4 1019 HP:0000488 Retinopathy ORPHANET:618 CDK4 1019 HP:0100013 Neoplasm of the breast ORPHANET:618 CDK4 1019 HP:0001480 Freckling ORPHANET:618 CDK4 1019 HP:0000958 Dry skin ORPHANET:618 CDK4 1019 HP:0002894 Neoplasm of the pancreas ORPHANET:618 CDK4 1019 HP:0002861 Melanoma ORPHANET:618 CDK4 1019 HP:0002071 Abnormality of extrapyramidal motor function ORPHANET:618 POT1 25913 HP:0100763 Abnormality of the lymphatic system ORPHANET:618 POT1 25913 HP:0006753 Neoplasm of the stomach ORPHANET:618 POT1 25913 HP:0000488 Retinopathy ORPHANET:618 POT1 25913 HP:0100013 Neoplasm of the breast ORPHANET:618 POT1 25913 HP:0001480 Freckling ORPHANET:618 POT1 25913 HP:0000958 Dry skin ORPHANET:618 POT1 25913 HP:0002894 Neoplasm of the pancreas ORPHANET:618 POT1 25913 HP:0002861 Melanoma ORPHANET:618 POT1 25913 HP:0002071 Abnormality of extrapyramidal motor function ORPHANET:618 TERT 7015 HP:0100763 Abnormality of the lymphatic system ORPHANET:618 TERT 7015 HP:0006753 Neoplasm of the stomach ORPHANET:618 TERT 7015 HP:0000488 Retinopathy ORPHANET:618 TERT 7015 HP:0100013 Neoplasm of the breast ORPHANET:618 TERT 7015 HP:0001480 Freckling ORPHANET:618 TERT 7015 HP:0000958 Dry skin ORPHANET:618 TERT 7015 HP:0002894 Neoplasm of the pancreas ORPHANET:618 TERT 7015 HP:0002861 Melanoma ORPHANET:618 TERT 7015 HP:0002071 Abnormality of extrapyramidal motor function ORPHANET:618 CDKN2A 1029 HP:0100763 Abnormality of the lymphatic system ORPHANET:618 CDKN2A 1029 HP:0006753 Neoplasm of the stomach ORPHANET:618 CDKN2A 1029 HP:0000488 Retinopathy ORPHANET:618 CDKN2A 1029 HP:0100013 Neoplasm of the breast ORPHANET:618 CDKN2A 1029 HP:0001480 Freckling ORPHANET:618 CDKN2A 1029 HP:0000958 Dry skin ORPHANET:618 CDKN2A 1029 HP:0002894 Neoplasm of the pancreas ORPHANET:618 CDKN2A 1029 HP:0002861 Melanoma ORPHANET:618 CDKN2A 1029 HP:0002071 Abnormality of extrapyramidal motor function ORPHANET:618 CDKN2B 1030 HP:0100763 Abnormality of the lymphatic system ORPHANET:618 CDKN2B 1030 HP:0006753 Neoplasm of the stomach ORPHANET:618 CDKN2B 1030 HP:0000488 Retinopathy ORPHANET:618 CDKN2B 1030 HP:0100013 Neoplasm of the breast ORPHANET:618 CDKN2B 1030 HP:0001480 Freckling ORPHANET:618 CDKN2B 1030 HP:0000958 Dry skin ORPHANET:618 CDKN2B 1030 HP:0002894 Neoplasm of the pancreas ORPHANET:618 CDKN2B 1030 HP:0002861 Melanoma ORPHANET:618 CDKN2B 1030 HP:0002071 Abnormality of extrapyramidal motor function ORPHANET:618 MC1R 4157 HP:0100763 Abnormality of the lymphatic system ORPHANET:618 MC1R 4157 HP:0006753 Neoplasm of the stomach ORPHANET:618 MC1R 4157 HP:0000488 Retinopathy ORPHANET:618 MC1R 4157 HP:0100013 Neoplasm of the breast ORPHANET:618 MC1R 4157 HP:0001480 Freckling ORPHANET:618 MC1R 4157 HP:0000958 Dry skin ORPHANET:618 MC1R 4157 HP:0002894 Neoplasm of the pancreas ORPHANET:618 MC1R 4157 HP:0002861 Melanoma ORPHANET:618 MC1R 4157 HP:0002071 Abnormality of extrapyramidal motor function OMIM:169150 PRPH2 5961 HP:0000613 Photophobia OMIM:169150 PRPH2 5961 HP:0007913 Reticular retinal dystrophy OMIM:169150 PRPH2 5961 HP:0000662 Night blindness OMIM:169150 PRPH2 5961 HP:0007963 Macroreticular retinal dystrophy OMIM:169150 PRPH2 5961 HP:0012508 Metamorphopsia OMIM:169150 PRPH2 5961 HP:0000006 Autosomal dominant inheritance OMIM:608115 FSHR 2492 HP:0001541 Ascites OMIM:608115 FSHR 2492 HP:0002018 Nausea OMIM:608115 FSHR 2492 HP:0002027 Abdominal pain OMIM:608115 FSHR 2492 HP:0000119 Abnormality of the genitourinary system OMIM:608115 FSHR 2492 HP:0000006 Autosomal dominant inheritance OMIM:252160 MOCS2 4338 HP:0000343 Long philtrum OMIM:252160 MOCS2 4338 HP:0000252 Microcephaly OMIM:252160 MOCS2 4338 HP:0002079 Hypoplasia of the corpus callosum OMIM:252160 MOCS2 4338 HP:0003676 Progressive disorder OMIM:252160 MOCS2 4338 HP:0003447 Axonal loss OMIM:252160 MOCS2 4338 HP:0003537 Hypouricemia OMIM:252160 MOCS2 4338 HP:0003570 Molybdenum cofactor deficiency OMIM:252160 MOCS2 4338 HP:0011814 Increased urinary hypoxanthine OMIM:252160 MOCS2 4338 HP:0011096 Peripheral demyelination OMIM:252160 MOCS2 4338 HP:0000639 Nystagmus OMIM:252160 MOCS2 4338 HP:0002179 Opisthotonus OMIM:252160 MOCS2 4338 HP:0001510 Growth delay OMIM:252160 MOCS2 4338 HP:0000804 Xanthine nephrolithiasis OMIM:252160 MOCS2 4338 HP:0002119 Ventriculomegaly OMIM:252160 MOCS2 4338 HP:0002510 Spastic tetraplegia OMIM:252160 MOCS2 4338 HP:0010934 Xanthinuria OMIM:252160 MOCS2 4338 HP:0000316 Hypertelorism OMIM:252160 MOCS2 4338 HP:0000256 Macrocephaly OMIM:252160 MOCS2 4338 HP:0000007 Autosomal recessive inheritance OMIM:252160 MOCS2 4338 HP:0012471 Thick vermilion border OMIM:252160 MOCS2 4338 HP:0000276 Long face OMIM:252160 MOCS2 4338 HP:0003166 Increased urinary taurine OMIM:252160 MOCS2 4338 HP:0003196 Short nose OMIM:252160 MOCS2 4338 HP:0001083 Ectopia lentis OMIM:252160 MOCS2 4338 HP:0002059 Cerebral atrophy OMIM:252160 MOCS2 4338 HP:0002171 Gliosis OMIM:252160 MOCS2 4338 HP:0002007 Frontal bossing OMIM:252160 MOCS2 4338 HP:0000293 Full cheeks OMIM:252160 MOCS2 4338 HP:0011968 Feeding difficulties OMIM:252160 MOCS2 4338 HP:0003739 Myoclonic spasms OMIM:614931 HOXC13 3229 HP:0008404 Nail dystrophy OMIM:614931 HOXC13 3229 HP:0000007 Autosomal recessive inheritance OMIM:614931 HOXC13 3229 HP:0001006 Hypotrichosis OMIM:614931 HOXC13 3229 HP:0001598 Concave nail OMIM:614931 HOXC13 3229 HP:0000968 Ectodermal dysplasia OMIM:611092 GRIK2 2898 HP:0001263 Global developmental delay OMIM:611092 GRIK2 2898 HP:0001336 Myoclonus OMIM:611092 GRIK2 2898 HP:0000007 Autosomal recessive inheritance OMIM:611092 GRIK2 2898 HP:0001250 Seizures OMIM:611092 GRIK2 2898 HP:0001337 Tremor OMIM:611092 GRIK2 2898 HP:0001332 Dystonia OMIM:611092 GRIK2 2898 HP:0001249 Intellectual disability OMIM:614813 POC1A 25886 HP:0003187 Breast hypoplasia OMIM:614813 POC1A 25886 HP:0004590 Hypoplastic sacrum OMIM:614813 POC1A 25886 HP:0000060 Clitoral hypoplasia OMIM:614813 POC1A 25886 HP:0030084 Clinodactyly OMIM:614813 POC1A 25886 HP:0000490 Deeply set eye OMIM:614813 POC1A 25886 HP:0008839 Hypoplastic pelvis OMIM:614813 POC1A 25886 HP:0009882 Short distal phalanx of finger OMIM:614813 POC1A 25886 HP:0000448 Prominent nose OMIM:614813 POC1A 25886 HP:0000164 Abnormality of the teeth OMIM:614813 POC1A 25886 HP:0003498 Disproportionate short stature OMIM:614813 POC1A 25886 HP:0002515 Waddling gait OMIM:614813 POC1A 25886 HP:0000256 Macrocephaly OMIM:614813 POC1A 25886 HP:0000307 Pointed chin OMIM:614813 POC1A 25886 HP:0010579 Cone-shaped epiphysis OMIM:614813 POC1A 25886 HP:0000303 Mandibular prognathia OMIM:614813 POC1A 25886 HP:0000798 Oligospermia OMIM:614813 POC1A 25886 HP:0200055 Small hand OMIM:614813 POC1A 25886 HP:0002376 Developmental regression OMIM:614813 POC1A 25886 HP:0000007 Autosomal recessive inheritance OMIM:614813 POC1A 25886 HP:0008551 Microtia OMIM:614813 POC1A 25886 HP:0010049 Short metacarpal OMIM:614813 POC1A 25886 HP:0010743 Short metatarsal OMIM:614813 POC1A 25886 HP:0001263 Global developmental delay OMIM:614813 POC1A 25886 HP:0008070 Sparse hair OMIM:614813 POC1A 25886 HP:0001156 Brachydactyly syndrome OMIM:614813 POC1A 25886 HP:0001620 High pitched voice OMIM:614813 POC1A 25886 HP:0100864 Short femoral neck OMIM:614813 POC1A 25886 HP:0000316 Hypertelorism OMIM:614813 POC1A 25886 HP:0001518 Small for gestational age OMIM:614813 POC1A 25886 HP:0001792 Small nail OMIM:614813 POC1A 25886 HP:0000325 Triangular face OMIM:614813 POC1A 25886 HP:0000252 Microcephaly OMIM:614813 POC1A 25886 HP:0001252 Muscular hypotonia OMIM:614813 POC1A 25886 HP:0011220 Prominent forehead OMIM:614813 POC1A 25886 HP:0000276 Long face OMIM:614813 POC1A 25886 HP:0000819 Diabetes mellitus OMIM:308050 NSDHL 50814 HP:0000958 Dry skin OMIM:308050 NSDHL 50814 HP:0000347 Micrognathia OMIM:308050 NSDHL 50814 HP:0003465 Elevated 8(9)-cholestenol OMIM:308050 NSDHL 50814 HP:0000962 Hyperkeratosis OMIM:308050 NSDHL 50814 HP:0001374 Congenital hip dislocation OMIM:308050 NSDHL 50814 HP:0010655 Epiphyseal stippling OMIM:308050 NSDHL 50814 HP:0100543 Cognitive impairment OMIM:308050 NSDHL 50814 HP:0000834 Abnormality of the adrenal glands OMIM:308050 NSDHL 50814 HP:0009751 Aplasia of the pectoralis major muscle OMIM:308050 NSDHL 50814 HP:0000365 Hearing impairment OMIM:308050 NSDHL 50814 HP:0002650 Scoliosis OMIM:308050 NSDHL 50814 HP:0002808 Kyphosis OMIM:308050 NSDHL 50814 HP:0008678 Renal hypoplasia/aplasia OMIM:308050 NSDHL 50814 HP:0000204 Cleft upper lip OMIM:308050 NSDHL 50814 HP:0003462 Elevated 8-dehydrocholesterol OMIM:308050 NSDHL 50814 HP:0004322 Short stature OMIM:308050 NSDHL 50814 HP:0004383 Hypoplastic left heart OMIM:308050 NSDHL 50814 HP:0001371 Flexion contracture OMIM:308050 NSDHL 50814 HP:0008839 Hypoplastic pelvis OMIM:308050 NSDHL 50814 HP:0000175 Cleft palate OMIM:308050 NSDHL 50814 HP:0008883 Mild intrauterine growth retardation OMIM:308050 NSDHL 50814 HP:0001750 Single ventricle OMIM:308050 NSDHL 50814 HP:0000963 Thin skin OMIM:308050 NSDHL 50814 HP:0002120 Cerebral cortical atrophy OMIM:308050 NSDHL 50814 HP:0008064 Ichthyosis OMIM:308050 NSDHL 50814 HP:0007431 Congenital ichthyosiform erythroderma OMIM:308050 NSDHL 50814 HP:0000147 Polycystic ovaries OMIM:308050 NSDHL 50814 HP:0001256 Intellectual disability, mild OMIM:308050 NSDHL 50814 HP:0100026 Arteriovenous malformation OMIM:308050 NSDHL 50814 HP:0001596 Alopecia OMIM:308050 NSDHL 50814 HP:0002475 Myelomeningocele OMIM:308050 NSDHL 50814 HP:0001036 Parakeratosis OMIM:308050 NSDHL 50814 HP:0001511 Intrauterine growth retardation OMIM:308050 NSDHL 50814 HP:0005930 Abnormality of epiphysis morphology OMIM:308050 NSDHL 50814 HP:0000820 Abnormality of the thyroid gland OMIM:308050 NSDHL 50814 HP:0100555 Asymmetric growth OMIM:308050 NSDHL 50814 HP:0001597 Abnormality of the nail OMIM:308050 NSDHL 50814 HP:0009813 Upper limb phocomelia OMIM:308050 NSDHL 50814 HP:0003826 Stillbirth OMIM:308050 NSDHL 50814 HP:0005990 Thyroid hypoplasia OMIM:308050 NSDHL 50814 HP:0002564 Malformation of the heart and great vessels OMIM:308050 NSDHL 50814 HP:0000772 Abnormality of the ribs OMIM:308050 NSDHL 50814 HP:0000126 Hydronephrosis OMIM:308050 NSDHL 50814 HP:0000773 Short ribs OMIM:308050 NSDHL 50814 HP:0000894 Short clavicles OMIM:308050 NSDHL 50814 HP:0001231 Abnormality of the fingernails OMIM:308050 NSDHL 50814 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:308050 NSDHL 50814 HP:0000988 Skin rash OMIM:308050 NSDHL 50814 HP:0001654 Abnormality of the heart valves OMIM:308050 NSDHL 50814 HP:0001671 Abnormality of the cardiac septa OMIM:308050 NSDHL 50814 HP:0000912 Sprengel anomaly OMIM:308050 NSDHL 50814 HP:0004348 Abnormality of bone mineral density OMIM:308050 NSDHL 50814 HP:0000835 Adrenal hypoplasia OMIM:308050 NSDHL 50814 HP:0000882 Hypoplastic scapulae OMIM:308050 NSDHL 50814 HP:0008417 Vertebral hypoplasia OMIM:308050 NSDHL 50814 HP:0001291 Abnormality of the cranial nerves OMIM:308050 NSDHL 50814 HP:0001425 Heterogeneous OMIM:308050 NSDHL 50814 HP:0001629 Ventricular septal defect OMIM:308050 NSDHL 50814 HP:0001631 Defect in the atrial septum OMIM:308050 NSDHL 50814 HP:0002977 Aplasia/Hypoplasia involving the central nervous system OMIM:308050 NSDHL 50814 HP:0009815 Aplasia/hypoplasia of the extremities OMIM:308050 NSDHL 50814 HP:0002089 Pulmonary hypoplasia OMIM:308050 NSDHL 50814 HP:0009775 Amniotic constriction ring OMIM:308050 NSDHL 50814 HP:0001423 X-linked dominant inheritance OMIM:308050 NSDHL 50814 HP:0001537 Umbilical hernia OMIM:100300 ARHGAP31 57514 HP:0000565 Esotropia OMIM:100300 ARHGAP31 57514 HP:0000252 Microcephaly OMIM:100300 ARHGAP31 57514 HP:0002119 Ventriculomegaly OMIM:100300 ARHGAP31 57514 HP:0000119 Abnormality of the genitourinary system OMIM:100300 ARHGAP31 57514 HP:0002126 Polymicrogyria OMIM:100300 ARHGAP31 57514 HP:0000006 Autosomal dominant inheritance OMIM:100300 ARHGAP31 57514 HP:0002084 Encephalocele OMIM:100300 ARHGAP31 57514 HP:0001252 Muscular hypotonia OMIM:100300 ARHGAP31 57514 HP:0007589 Aplasia cutis congenita on trunk or limbs OMIM:100300 ARHGAP31 57514 HP:0001762 Talipes equinovarus OMIM:100300 ARHGAP31 57514 HP:0001250 Seizures OMIM:100300 ARHGAP31 57514 HP:0002079 Hypoplasia of the corpus callosum OMIM:100300 ARHGAP31 57514 HP:0002539 Cortical dysplasia OMIM:100300 ARHGAP31 57514 HP:0001249 Intellectual disability OMIM:100300 ARHGAP31 57514 HP:0007590 Aplasia cutis congenita over posterior parietal area OMIM:100300 ARHGAP31 57514 HP:0001156 Brachydactyly syndrome OMIM:100300 ARHGAP31 57514 HP:0000965 Cutis marmorata OMIM:100300 ARHGAP31 57514 HP:0001629 Ventricular septal defect OMIM:100300 ARHGAP31 57514 HP:0004415 Pulmonary artery stenosis OMIM:100300 ARHGAP31 57514 HP:0001792 Small nail OMIM:100300 ARHGAP31 57514 HP:0006970 Periventricular leukomalacia OMIM:100300 ARHGAP31 57514 HP:0002092 Pulmonary hypertension OMIM:100300 ARHGAP31 57514 HP:0000007 Autosomal recessive inheritance OMIM:100300 ARHGAP31 57514 HP:0001636 Tetralogy of Fallot OMIM:100300 ARHGAP31 57514 HP:0001362 Skull defect OMIM:100300 ARHGAP31 57514 HP:0000568 Microphthalmos OMIM:100300 ARHGAP31 57514 HP:0000204 Cleft upper lip OMIM:100300 ARHGAP31 57514 HP:0001263 Global developmental delay OMIM:100300 ARHGAP31 57514 HP:0001547 Abnormality of the rib cage OMIM:100300 ARHGAP31 57514 HP:0001631 Defect in the atrial septum OMIM:100300 ARHGAP31 57514 HP:0001596 Alopecia OMIM:100300 ARHGAP31 57514 HP:0001770 Toe syndactyly OMIM:100300 ARHGAP31 57514 HP:0002558 Supernumerary nipple OMIM:100300 ARHGAP31 57514 HP:0003812 Phenotypic variability OMIM:100300 ARHGAP31 57514 HP:0000175 Cleft palate OMIM:100300 ARHGAP31 57514 HP:0001302 Pachygyria OMIM:100300 ARHGAP31 57514 HP:0001642 Pulmonic stenosis OMIM:611820 AKAP9 10142 HP:0001657 Prolonged QT interval OMIM:609310 MLH1 4292 HP:0003003 Colon cancer OMIM:609310 MLH1 4292 HP:0000006 Autosomal dominant inheritance OMIM:300220 HSD17B10 3028 HP:0001249 Intellectual disability OMIM:300220 HSD17B10 3028 HP:0002136 Broad-based gait OMIM:300220 HSD17B10 3028 HP:0003593 Infantile onset OMIM:300220 HSD17B10 3028 HP:0000718 Aggressive behavior OMIM:300220 HSD17B10 3028 HP:0001166 Arachnodactyly OMIM:300220 HSD17B10 3028 HP:0000738 Hallucinations OMIM:300220 HSD17B10 3028 HP:0001257 Spasticity OMIM:300220 HSD17B10 3028 HP:0001266 Choreoathetosis OMIM:300220 HSD17B10 3028 HP:0002938 Lumbar hyperlordosis OMIM:300220 HSD17B10 3028 HP:0000709 Psychosis OMIM:300220 HSD17B10 3028 HP:0001260 Dysarthria OMIM:300220 HSD17B10 3028 HP:0100543 Cognitive impairment OMIM:300220 HSD17B10 3028 HP:0009062 Infantile axial hypotonia OMIM:300220 HSD17B10 3028 HP:0001419 X-linked recessive inheritance OMIM:300220 HSD17B10 3028 HP:0001347 Hyperreflexia OMIM:300220 HSD17B10 3028 HP:0001270 Motor delay OMIM:300220 HSD17B10 3028 HP:0100022 Abnormality of movement OMIM:300220 HSD17B10 3028 HP:0000713 Agitation OMIM:300220 HSD17B10 3028 HP:0000708 Behavioral abnormality OMIM:615474 CACNA1D 776 HP:0002900 Hypokalemia OMIM:615474 CACNA1D 776 HP:0001629 Ventricular septal defect OMIM:615474 CACNA1D 776 HP:0100704 Cortical visual impairment OMIM:615474 CACNA1D 776 HP:0001263 Global developmental delay OMIM:615474 CACNA1D 776 HP:0002092 Pulmonary hypertension OMIM:615474 CACNA1D 776 HP:0200114 Metabolic alkalosis OMIM:615474 CACNA1D 776 HP:0000822 Hypertension OMIM:615474 CACNA1D 776 HP:0001655 Patent foramen ovale OMIM:615474 CACNA1D 776 HP:0100021 Cerebral palsy OMIM:615474 CACNA1D 776 HP:0002069 Generalized tonic-clonic seizures OMIM:615474 CACNA1D 776 HP:0000006 Autosomal dominant inheritance OMIM:615474 CACNA1D 776 HP:0002510 Spastic tetraplegia OMIM:615474 CACNA1D 776 HP:0003351 Decreased circulating renin level OMIM:615474 CACNA1D 776 HP:0200128 Biventricular hypertrophy OMIM:615474 CACNA1D 776 HP:0000787 Nephrolithiasis OMIM:300844 RPS6KA3 6197 HP:0001249 Intellectual disability OMIM:300844 RPS6KA3 6197 HP:0001417 X-linked inheritance ORPHANET:2340 SAT1 6303 HP:0001596 Alopecia ORPHANET:2340 SAT1 6303 HP:0000498 Blepharitis ORPHANET:2340 SAT1 6303 HP:0007759 Opacification of the corneal stroma ORPHANET:2340 SAT1 6303 HP:0000962 Hyperkeratosis ORPHANET:2340 SAT1 6303 HP:0000545 Myopia ORPHANET:2340 SAT1 6303 HP:0000682 Abnormality of dental enamel ORPHANET:2340 SAT1 6303 HP:0000670 Carious teeth ORPHANET:2340 SAT1 6303 HP:0008064 Ichthyosis ORPHANET:2340 SAT1 6303 HP:0001231 Abnormality of the fingernails ORPHANET:2340 SAT1 6303 HP:0000541 Retinal detachment ORPHANET:2340 SAT1 6303 HP:0011073 Abnormality of dental color ORPHANET:2340 SAT1 6303 HP:0000964 Eczema ORPHANET:2340 SAT1 6303 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:2340 MBTPS2 51360 HP:0001596 Alopecia ORPHANET:2340 MBTPS2 51360 HP:0000498 Blepharitis ORPHANET:2340 MBTPS2 51360 HP:0007759 Opacification of the corneal stroma ORPHANET:2340 MBTPS2 51360 HP:0000962 Hyperkeratosis ORPHANET:2340 MBTPS2 51360 HP:0000545 Myopia ORPHANET:2340 MBTPS2 51360 HP:0000682 Abnormality of dental enamel ORPHANET:2340 MBTPS2 51360 HP:0000670 Carious teeth ORPHANET:2340 MBTPS2 51360 HP:0008064 Ichthyosis ORPHANET:2340 MBTPS2 51360 HP:0001231 Abnormality of the fingernails ORPHANET:2340 MBTPS2 51360 HP:0000541 Retinal detachment ORPHANET:2340 MBTPS2 51360 HP:0011073 Abnormality of dental color ORPHANET:2340 MBTPS2 51360 HP:0000964 Eczema ORPHANET:2340 MBTPS2 51360 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:113000 ROR2 4920 HP:0000270 Delayed cranial suture closure OMIM:113000 ROR2 4920 HP:0004590 Hypoplastic sacrum OMIM:113000 ROR2 4920 HP:0000006 Autosomal dominant inheritance OMIM:113000 ROR2 4920 HP:0002937 Hemivertebrae OMIM:113000 ROR2 4920 HP:0005819 Short middle phalanx of finger OMIM:113000 ROR2 4920 HP:0011304 Broad thumb OMIM:113000 ROR2 4920 HP:0001629 Ventricular septal defect OMIM:113000 ROR2 4920 HP:0001798 Anonychia OMIM:113000 ROR2 4920 HP:0009473 Joint contracture of the hand OMIM:113000 ROR2 4920 HP:0001760 Abnormality of the foot OMIM:113000 ROR2 4920 HP:0009773 Symphalangism affecting the phalanges of the hand OMIM:113000 ROR2 4920 HP:0012385 Camptodactyly OMIM:113000 ROR2 4920 HP:0009835 Aplasia/Hypoplasia of the distal phalanges of the hand OMIM:113000 ROR2 4920 HP:0002948 Vertebral fusion OMIM:113000 ROR2 4920 HP:0010185 Aplasia/Hypoplasia of the distal phalanges of the toes OMIM:113000 ROR2 4920 HP:0009602 Abnormality of thumb phalanx OMIM:113000 ROR2 4920 HP:0009882 Short distal phalanx of finger OMIM:113000 ROR2 4920 HP:0002944 Thoracolumbar scoliosis OMIM:113000 ROR2 4920 HP:0001159 Syndactyly OMIM:113000 ROR2 4920 HP:0001841 Preaxial foot polydactyly OMIM:113000 ROR2 4920 HP:0005048 Synostosis of carpal bones OMIM:113000 ROR2 4920 HP:0001831 Short toe OMIM:113000 ROR2 4920 HP:0003026 Short long bone OMIM:113000 ROR2 4920 HP:0005831 Type B brachydactyly OMIM:113000 ROR2 4920 HP:0010554 Cutaneous finger syndactyly OMIM:113000 ROR2 4920 HP:0001163 Abnormality of the metacarpal bones OMIM:113000 ROR2 4920 HP:0000260 Wide anterior fontanel OMIM:113000 ROR2 4920 HP:0000696 Delayed eruption of permanent teeth OMIM:113000 ROR2 4920 HP:0000054 Micropenis OMIM:253260 BTD 686 HP:0100275 Diffuse cerebellar atrophy OMIM:253260 BTD 686 HP:0001251 Ataxia OMIM:253260 BTD 686 HP:0001596 Alopecia OMIM:253260 BTD 686 HP:0100533 Inflammatory abnormality of the eye OMIM:253260 BTD 686 HP:0000648 Optic atrophy OMIM:253260 BTD 686 HP:0001581 Recurrent skin infections OMIM:253260 BTD 686 HP:0000988 Skin rash OMIM:253260 BTD 686 HP:0000958 Dry skin OMIM:253260 BTD 686 HP:0001250 Seizures OMIM:253260 BTD 686 HP:0001744 Splenomegaly OMIM:253260 BTD 686 HP:0001324 Muscle weakness OMIM:253260 BTD 686 HP:0001987 Hyperammonemia OMIM:253260 BTD 686 HP:0000545 Myopia OMIM:253260 BTD 686 HP:0000007 Autosomal recessive inheritance OMIM:253260 BTD 686 HP:0200042 Skin ulcer OMIM:253260 BTD 686 HP:0000407 Sensorineural hearing impairment OMIM:253260 BTD 686 HP:0008872 Feeding difficulties in infancy OMIM:253260 BTD 686 HP:0001276 Hypertonia OMIM:253260 BTD 686 HP:0007703 Abnormal retinal pigmentation OMIM:253260 BTD 686 HP:0002311 Incoordination OMIM:253260 BTD 686 HP:0001252 Muscular hypotonia OMIM:253260 BTD 686 HP:0001051 Seborrheic dermatitis OMIM:253260 BTD 686 HP:0002093 Respiratory insufficiency OMIM:253260 BTD 686 HP:0002506 Diffuse cerebral atrophy OMIM:253260 BTD 686 HP:0000365 Hearing impairment OMIM:253260 BTD 686 HP:0005979 Metabolic ketoacidosis OMIM:253260 BTD 686 HP:0001254 Lethargy OMIM:253260 BTD 686 HP:0002014 Diarrhea OMIM:253260 BTD 686 HP:0000572 Visual loss OMIM:253260 BTD 686 HP:0001992 Organic aciduria OMIM:253260 BTD 686 HP:0001123 Visual field defect OMIM:253260 BTD 686 HP:0004372 Reduced consciousness/confusion OMIM:253260 BTD 686 HP:0002104 Apnea OMIM:253260 BTD 686 HP:0002240 Hepatomegaly OMIM:253260 BTD 686 HP:0002013 Vomiting OMIM:253260 BTD 686 HP:0001263 Global developmental delay OMIM:253260 BTD 686 HP:0000509 Conjunctivitis OMIM:253260 BTD 686 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:253260 BTD 686 HP:0002789 Tachypnea OMIM:148350 GJB2 2706 HP:0000982 Palmoplantar keratoderma OMIM:148350 GJB2 2706 HP:0000365 Hearing impairment OMIM:148350 GJB2 2706 HP:0000006 Autosomal dominant inheritance OMIM:148350 GJB2 2706 HP:0000972 Palmoplantar hyperkeratosis OMIM:148350 GJB2 2706 HP:0000407 Sensorineural hearing impairment OMIM:615558 APOB 338 HP:0001315 Reduced tendon reflexes OMIM:615558 APOB 338 HP:0000007 Autosomal recessive inheritance OMIM:615558 APOB 338 HP:0001251 Ataxia OMIM:615558 APOB 338 HP:0001927 Acanthocytosis OMIM:615558 APOB 338 HP:0003563 Hypobetalipoproteinemia OMIM:615558 APOB 338 HP:0000546 Retinal degeneration OMIM:615558 APOB 338 HP:0000510 Retinitis pigmentosa OMIM:610549 INSR 3643 HP:0007440 Generalized hyperpigmentation OMIM:610549 INSR 3643 HP:0000962 Hyperkeratosis OMIM:610549 INSR 3643 HP:0005616 Accelerated skeletal maturation OMIM:610549 INSR 3643 HP:0000998 Hypertrichosis OMIM:610549 INSR 3643 HP:0000078 Abnormality of the genital system OMIM:610549 INSR 3643 HP:0005978 Type II diabetes mellitus OMIM:610549 INSR 3643 HP:0000098 Tall stature OMIM:145600 RYR1 6261 HP:0002063 Rigidity OMIM:145600 RYR1 6261 HP:0002905 Hyperphosphatemia OMIM:145600 RYR1 6261 HP:0000006 Autosomal dominant inheritance OMIM:145600 RYR1 6261 HP:0001649 Tachycardia OMIM:145600 RYR1 6261 HP:0003201 Rhabdomyolysis OMIM:145600 RYR1 6261 HP:0003256 Abnormality of the coagulation cascade OMIM:145600 RYR1 6261 HP:0002615 Hypotension OMIM:145600 RYR1 6261 HP:0002047 Malignant hyperthermia OMIM:145600 RYR1 6261 HP:0002153 Hyperkalemia OMIM:145600 RYR1 6261 HP:0003236 Elevated serum creatine phosphokinase OMIM:145600 RYR1 6261 HP:0005967 Mixed respiratory and metabolic acidosis OMIM:145600 RYR1 6261 HP:0001945 Fever OMIM:145600 RYR1 6261 HP:0002913 Myoglobinuria OMIM:255320 RYR1 6261 HP:0001558 Decreased fetal movement OMIM:255320 RYR1 6261 HP:0009025 Increased connective tissue OMIM:255320 RYR1 6261 HP:0001380 Ligamentous laxity OMIM:255320 RYR1 6261 HP:0002650 Scoliosis OMIM:255320 RYR1 6261 HP:0003327 Axial muscle weakness OMIM:255320 RYR1 6261 HP:0001561 Polyhydramnios OMIM:255320 RYR1 6261 HP:0003623 Neonatal onset OMIM:255320 RYR1 6261 HP:0002089 Pulmonary hypoplasia OMIM:255320 RYR1 6261 HP:0002093 Respiratory insufficiency OMIM:255320 RYR1 6261 HP:0002058 Myopathic facies OMIM:255320 RYR1 6261 HP:0003787 Type 1 and type 2 muscle fiber minicore regions OMIM:255320 RYR1 6261 HP:0003557 Increased variability in muscle fiber diameter OMIM:255320 RYR1 6261 HP:0003324 Generalized muscle weakness OMIM:255320 RYR1 6261 HP:0010628 Facial palsy OMIM:255320 RYR1 6261 HP:0001284 Areflexia OMIM:255320 RYR1 6261 HP:0000544 External ophthalmoplegia OMIM:255320 RYR1 6261 HP:0002205 Recurrent respiratory infections OMIM:255320 RYR1 6261 HP:0003738 Exercise-induced myalgia OMIM:255320 RYR1 6261 HP:0000508 Ptosis OMIM:255320 RYR1 6261 HP:0003560 Muscular dystrophy OMIM:255320 RYR1 6261 HP:0001270 Motor delay OMIM:255320 RYR1 6261 HP:0003202 Skeletal muscle atrophy OMIM:255320 RYR1 6261 HP:0003701 Proximal muscle weakness OMIM:255320 RYR1 6261 HP:0001319 Neonatal hypotonia OMIM:255320 RYR1 6261 HP:0003798 Nemaline bodies OMIM:255320 RYR1 6261 HP:0001789 Hydrops fetalis OMIM:255320 RYR1 6261 HP:0009046 Difficulty running OMIM:255320 RYR1 6261 HP:0008872 Feeding difficulties in infancy OMIM:255320 RYR1 6261 HP:0000218 High palate OMIM:255320 RYR1 6261 HP:0000007 Autosomal recessive inheritance OMIM:516001 ND2 4536 HP:0001129 Large central visual field defect OMIM:516001 ND2 4536 HP:0001085 Papilledema OMIM:516001 ND2 4536 HP:0001939 Abnormality of metabolism/homeostasis OMIM:516001 ND2 4536 HP:0000543 Optic disc pallor OMIM:516001 ND2 4536 HP:0001427 Mitochondrial inheritance OMIM:516001 ND2 4536 HP:0003674 Onset OMIM:516001 ND2 4536 HP:0001117 Sudden central visual loss OMIM:516001 ND2 4536 HP:0001112 Leber optic atrophy OMIM:516001 ND2 4536 HP:0002315 Headache OMIM:609352 KRT5 3852 HP:0008066 Abnormal blistering of the skin OMIM:609352 KRT5 3852 HP:0000988 Skin rash OMIM:609352 KRT5 3852 HP:0001000 Abnormality of skin pigmentation OMIM:187950 THPO 7066 HP:0001744 Splenomegaly OMIM:187950 THPO 7066 HP:0001428 Somatic mutation OMIM:187950 THPO 7066 HP:0000822 Hypertension OMIM:187950 THPO 7066 HP:0005547 Myeloproliferative disorder OMIM:187950 THPO 7066 HP:0001894 Thrombocytosis OMIM:187950 THPO 7066 HP:0000924 Abnormality of the skeletal system OMIM:187950 THPO 7066 HP:0000006 Autosomal dominant inheritance OMIM:187950 THPO 7066 HP:0003540 Impaired platelet aggregation OMIM:187950 THPO 7066 HP:0001063 Acrocyanosis OMIM:187950 SH2B3 10019 HP:0001744 Splenomegaly OMIM:187950 SH2B3 10019 HP:0001428 Somatic mutation OMIM:187950 SH2B3 10019 HP:0000822 Hypertension OMIM:187950 SH2B3 10019 HP:0005547 Myeloproliferative disorder OMIM:187950 SH2B3 10019 HP:0001894 Thrombocytosis OMIM:187950 SH2B3 10019 HP:0000924 Abnormality of the skeletal system OMIM:187950 SH2B3 10019 HP:0000006 Autosomal dominant inheritance OMIM:187950 SH2B3 10019 HP:0003540 Impaired platelet aggregation OMIM:187950 SH2B3 10019 HP:0001063 Acrocyanosis OMIM:187950 CALR 811 HP:0001744 Splenomegaly OMIM:187950 CALR 811 HP:0001428 Somatic mutation OMIM:187950 CALR 811 HP:0000822 Hypertension OMIM:187950 CALR 811 HP:0005547 Myeloproliferative disorder OMIM:187950 CALR 811 HP:0001894 Thrombocytosis OMIM:187950 CALR 811 HP:0000924 Abnormality of the skeletal system OMIM:187950 CALR 811 HP:0000006 Autosomal dominant inheritance OMIM:187950 CALR 811 HP:0003540 Impaired platelet aggregation OMIM:187950 CALR 811 HP:0001063 Acrocyanosis OMIM:131960 KRT5 3852 HP:0007438 Mottled pigmentation of the trunk and proximal extremities OMIM:131960 KRT5 3852 HP:0000978 Bruising susceptibility OMIM:131960 KRT5 3852 HP:0001053 Hypopigmented skin patches OMIM:131960 KRT5 3852 HP:0008066 Abnormal blistering of the skin OMIM:131960 KRT5 3852 HP:0007530 Punctate palmoplantar hyperkeratosis OMIM:131960 KRT5 3852 HP:0000982 Palmoplantar keratoderma OMIM:131960 KRT5 3852 HP:0001231 Abnormality of the fingernails OMIM:131960 KRT5 3852 HP:0007494 Discrete 2 to 5-mm hyper- and hypopigmented macules OMIM:131960 KRT5 3852 HP:0001805 Thick nail OMIM:131960 KRT5 3852 HP:0008404 Nail dystrophy OMIM:131960 KRT5 3852 HP:0002164 Nail dysplasia OMIM:131960 KRT5 3852 HP:0000006 Autosomal dominant inheritance OMIM:131960 KRT5 3852 HP:0007495 Prematurely aged appearance OMIM:607136 TBP 6908 HP:0000718 Aggressive behavior OMIM:607136 TBP 6908 HP:0000020 Urinary incontinence OMIM:607136 TBP 6908 HP:0000640 Gaze-evoked nystagmus OMIM:607136 TBP 6908 HP:0000006 Autosomal dominant inheritance OMIM:607136 TBP 6908 HP:0002403 Positive Romberg sign OMIM:607136 TBP 6908 HP:0000743 Frontal release signs OMIM:607136 TBP 6908 HP:0000738 Hallucinations OMIM:607136 TBP 6908 HP:0002186 Apraxia OMIM:607136 TBP 6908 HP:0001260 Dysarthria OMIM:607136 TBP 6908 HP:0000757 Lack of insight OMIM:607136 TBP 6908 HP:0003676 Progressive disorder OMIM:607136 TBP 6908 HP:0002067 Bradykinesia OMIM:607136 TBP 6908 HP:0001310 Dysmetria OMIM:607136 TBP 6908 HP:0002171 Gliosis OMIM:607136 TBP 6908 HP:0011999 Paranoia OMIM:607136 TBP 6908 HP:0001336 Myoclonus OMIM:607136 TBP 6908 HP:0000716 Depression OMIM:607136 TBP 6908 HP:0001332 Dystonia OMIM:607136 TBP 6908 HP:0002136 Broad-based gait OMIM:607136 TBP 6908 HP:0002080 Intention tremor OMIM:607136 TBP 6908 HP:0002072 Chorea OMIM:607136 TBP 6908 HP:0002506 Diffuse cerebral atrophy OMIM:607136 TBP 6908 HP:0002070 Limb ataxia OMIM:607136 TBP 6908 HP:0001300 Parkinsonism OMIM:607136 TBP 6908 HP:0007668 Impaired pursuit initiation and maintenance OMIM:607136 TBP 6908 HP:0002015 Dysphagia OMIM:607136 TBP 6908 HP:0002063 Rigidity OMIM:607136 TBP 6908 HP:0001272 Cerebellar atrophy OMIM:607136 TBP 6908 HP:0002066 Gait ataxia OMIM:607136 TBP 6908 HP:0001250 Seizures OMIM:607136 TBP 6908 HP:0002529 Neuronal loss in central nervous system OMIM:607136 TBP 6908 HP:0002300 Mutism OMIM:607136 TBP 6908 HP:0000727 Frontal lobe dementia OMIM:607136 TBP 6908 HP:0001289 Confusion OMIM:193520 NF1 4763 HP:0004482 Relative macrocephaly OMIM:193520 NF1 4763 HP:0009737 Lisch nodules OMIM:193520 NF1 4763 HP:0004322 Short stature OMIM:193520 NF1 4763 HP:0001067 Neurofibromas OMIM:193520 NF1 4763 HP:0001626 Abnormality of the cardiovascular system OMIM:193520 NF1 4763 HP:0000997 Axillary freckling OMIM:193520 NF1 4763 HP:0007565 Multiple cafe-au-lait spots OMIM:193520 NF1 4763 HP:0000006 Autosomal dominant inheritance OMIM:300577 ZDHHC15 158866 HP:0002162 Low posterior hairline OMIM:300577 ZDHHC15 158866 HP:0000286 Epicanthus OMIM:300577 ZDHHC15 158866 HP:0001572 Macrodontia OMIM:300577 ZDHHC15 158866 HP:0001999 Abnormal facial shape OMIM:300577 ZDHHC15 158866 HP:0200055 Small hand OMIM:300577 ZDHHC15 158866 HP:0006829 Severe muscular hypotonia OMIM:300577 ZDHHC15 158866 HP:0000218 High palate OMIM:300577 ZDHHC15 158866 HP:0009237 Short 5th finger OMIM:300577 ZDHHC15 158866 HP:0001344 Absent speech OMIM:300577 ZDHHC15 158866 HP:0001417 X-linked inheritance OMIM:300577 ZDHHC15 158866 HP:0001263 Global developmental delay OMIM:300577 ZDHHC15 158866 HP:0001513 Obesity OMIM:300577 ZDHHC15 158866 HP:0003196 Short nose OMIM:300577 ZDHHC15 158866 HP:0001773 Short foot OMIM:300577 ZDHHC15 158866 HP:0001256 Intellectual disability, mild OMIM:224900 EDAR 10913 HP:0002046 Heat intolerance OMIM:224900 EDAR 10913 HP:0002007 Frontal bossing OMIM:224900 EDAR 10913 HP:0000668 Hypodontia OMIM:224900 EDAR 10913 HP:0000535 Sparse eyebrow OMIM:224900 EDAR 10913 HP:0005280 Depressed nasal bridge OMIM:224900 EDAR 10913 HP:0007607 Hypohidrotic ectodermal dysplasia OMIM:224900 EDAR 10913 HP:0000674 Anodontia OMIM:224900 EDAR 10913 HP:0000232 Everted lower lip vermilion OMIM:224900 EDAR 10913 HP:0010803 Everted upper lip vermilion OMIM:224900 EDAR 10913 HP:0000966 Hypohidrosis OMIM:224900 EDAR 10913 HP:0000607 Periorbital wrinkles OMIM:224900 EDAR 10913 HP:0000007 Autosomal recessive inheritance OMIM:224900 EDAR 10913 HP:0012471 Thick vermilion border OMIM:224900 EDAR 10913 HP:0001006 Hypotrichosis OMIM:224900 EDAR 10913 HP:0001106 Periorbital hyperpigmentation OMIM:224900 EDAR 10913 HP:0000653 Sparse eyelashes OMIM:224900 EDAR 10913 HP:0000970 Anhidrosis OMIM:224900 EDAR 10913 HP:0000691 Microdontia OMIM:613808 CCDC40 55036 HP:0000403 Recurrent otitis media OMIM:613808 CCDC40 55036 HP:0000007 Autosomal recessive inheritance OMIM:613808 CCDC40 55036 HP:0002205 Recurrent respiratory infections OMIM:613808 CCDC40 55036 HP:0000789 Infertility OMIM:613808 CCDC40 55036 HP:0002110 Bronchiectasis OMIM:613808 CCDC40 55036 HP:0012265 Ciliary dyskinesia OMIM:613808 CCDC40 55036 HP:0012258 Abnormal axonemal organization of respiratory motile cilia OMIM:613808 CCDC40 55036 HP:0000246 Sinusitis OMIM:613808 CCDC40 55036 HP:0001696 Situs inversus totalis OMIM:615413 NANOS1 340719 HP:0000789 Infertility OMIM:615413 NANOS1 340719 HP:0000027 Azoospermia OMIM:615413 NANOS1 340719 HP:0000006 Autosomal dominant inheritance ORPHANET:1146 MYBPC1 4604 HP:0001838 Rocker bottom foot ORPHANET:1146 MYBPC1 4604 HP:0001181 Adducted thumb ORPHANET:1146 MYBPC1 4604 HP:0001883 Talipes ORPHANET:1146 MYBPC1 4604 HP:0001376 Limitation of joint mobility ORPHANET:1146 MYBPC1 4604 HP:0000160 Narrow mouth ORPHANET:1146 MYBPC1 4604 HP:0009465 Ulnar deviation of finger ORPHANET:1146 MYBPC1 4604 HP:0100490 Camptodactyly of finger ORPHANET:1146 MYBPC1 4604 HP:0003272 Abnormality of the hip bone ORPHANET:1146 MYH3 4621 HP:0001838 Rocker bottom foot ORPHANET:1146 MYH3 4621 HP:0001181 Adducted thumb ORPHANET:1146 MYH3 4621 HP:0001883 Talipes ORPHANET:1146 MYH3 4621 HP:0001376 Limitation of joint mobility ORPHANET:1146 MYH3 4621 HP:0000160 Narrow mouth ORPHANET:1146 MYH3 4621 HP:0009465 Ulnar deviation of finger ORPHANET:1146 MYH3 4621 HP:0100490 Camptodactyly of finger ORPHANET:1146 MYH3 4621 HP:0003272 Abnormality of the hip bone ORPHANET:1146 TPM2 7169 HP:0001838 Rocker bottom foot ORPHANET:1146 TPM2 7169 HP:0001181 Adducted thumb ORPHANET:1146 TPM2 7169 HP:0001883 Talipes ORPHANET:1146 TPM2 7169 HP:0001376 Limitation of joint mobility ORPHANET:1146 TPM2 7169 HP:0000160 Narrow mouth ORPHANET:1146 TPM2 7169 HP:0009465 Ulnar deviation of finger ORPHANET:1146 TPM2 7169 HP:0100490 Camptodactyly of finger ORPHANET:1146 TPM2 7169 HP:0003272 Abnormality of the hip bone ORPHANET:1146 TNNI2 7136 HP:0001838 Rocker bottom foot ORPHANET:1146 TNNI2 7136 HP:0001181 Adducted thumb ORPHANET:1146 TNNI2 7136 HP:0001883 Talipes ORPHANET:1146 TNNI2 7136 HP:0001376 Limitation of joint mobility ORPHANET:1146 TNNI2 7136 HP:0000160 Narrow mouth ORPHANET:1146 TNNI2 7136 HP:0009465 Ulnar deviation of finger ORPHANET:1146 TNNI2 7136 HP:0100490 Camptodactyly of finger ORPHANET:1146 TNNI2 7136 HP:0003272 Abnormality of the hip bone ORPHANET:1146 TNNT3 7140 HP:0001838 Rocker bottom foot ORPHANET:1146 TNNT3 7140 HP:0001181 Adducted thumb ORPHANET:1146 TNNT3 7140 HP:0001883 Talipes ORPHANET:1146 TNNT3 7140 HP:0001376 Limitation of joint mobility ORPHANET:1146 TNNT3 7140 HP:0000160 Narrow mouth ORPHANET:1146 TNNT3 7140 HP:0009465 Ulnar deviation of finger ORPHANET:1146 TNNT3 7140 HP:0100490 Camptodactyly of finger ORPHANET:1146 TNNT3 7140 HP:0003272 Abnormality of the hip bone OMIM:613865 SLC26A5 375611 HP:0000007 Autosomal recessive inheritance OMIM:613865 SLC26A5 375611 HP:0000407 Sensorineural hearing impairment OMIM:615946 SLC39A5 283375 HP:0000545 Myopia OMIM:612301 TNFRSF11A 8792 HP:0001903 Anemia OMIM:612301 TNFRSF11A 8792 HP:0000529 Progressive visual loss OMIM:612301 TNFRSF11A 8792 HP:0011002 Osteopetrosis OMIM:612301 TNFRSF11A 8792 HP:0100671 Abnormal trabecular bone morphology OMIM:612301 TNFRSF11A 8792 HP:0004313 Hypogammaglobulinemia OMIM:612301 TNFRSF11A 8792 HP:0000639 Nystagmus OMIM:612301 TNFRSF11A 8792 HP:0007807 Optic nerve compression OMIM:612301 TNFRSF11A 8792 HP:0001263 Global developmental delay OMIM:612301 TNFRSF11A 8792 HP:0000007 Autosomal recessive inheritance OMIM:612301 TNFRSF11A 8792 HP:0006532 Recurrent pneumonia OMIM:130650 KCNQ1OT1 10984 HP:0006744 Adrenocortical carcinoma OMIM:130650 KCNQ1OT1 10984 HP:0000239 Large fontanelles OMIM:130650 KCNQ1OT1 10984 HP:0005616 Accelerated skeletal maturation OMIM:130650 KCNQ1OT1 10984 HP:0000834 Abnormality of the adrenal glands OMIM:130650 KCNQ1OT1 10984 HP:0000269 Prominent occiput OMIM:130650 KCNQ1OT1 10984 HP:0000112 Nephropathy OMIM:130650 KCNQ1OT1 10984 HP:0001537 Umbilical hernia OMIM:130650 KCNQ1OT1 10984 HP:0001548 Overgrowth OMIM:130650 KCNQ1OT1 10984 HP:0002667 Nephroblastoma (Wilms tumor) OMIM:130650 KCNQ1OT1 10984 HP:0000113 Polycystic kidney dysplasia OMIM:130650 KCNQ1OT1 10984 HP:0001539 Omphalocele OMIM:130650 KCNQ1OT1 10984 HP:0000776 Congenital diaphragmatic hernia OMIM:130650 KCNQ1OT1 10984 HP:0002167 Neurological speech impairment OMIM:130650 KCNQ1OT1 10984 HP:0000028 Cryptorchidism OMIM:130650 KCNQ1OT1 10984 HP:0002884 Hepatoblastoma OMIM:130650 KCNQ1OT1 10984 HP:0003247 Overgrowth of external genitalia OMIM:130650 KCNQ1OT1 10984 HP:0001738 Exocrine pancreatic insufficiency OMIM:130650 KCNQ1OT1 10984 HP:0002240 Hepatomegaly OMIM:130650 KCNQ1OT1 10984 HP:0000272 Malar flattening OMIM:130650 KCNQ1OT1 10984 HP:0000150 Gonadoblastoma OMIM:130650 KCNQ1OT1 10984 HP:0002896 Neoplasm of the liver OMIM:130650 KCNQ1OT1 10984 HP:0001638 Cardiomyopathy OMIM:130650 KCNQ1OT1 10984 HP:0000006 Autosomal dominant inheritance OMIM:130650 KCNQ1OT1 10984 HP:0001744 Splenomegaly OMIM:130650 KCNQ1OT1 10984 HP:0001640 Cardiomegaly OMIM:130650 KCNQ1OT1 10984 HP:0008186 Adrenocortical cytomegaly OMIM:130650 KCNQ1OT1 10984 HP:0000598 Abnormality of the ear OMIM:130650 KCNQ1OT1 10984 HP:0011039 Abnormality of the helix OMIM:130650 KCNQ1OT1 10984 HP:0001998 Neonatal hypoglycemia OMIM:130650 KCNQ1OT1 10984 HP:0003006 Neuroblastoma OMIM:130650 KCNQ1OT1 10984 HP:0000105 Enlarged kidneys OMIM:130650 KCNQ1OT1 10984 HP:0000821 Hypothyroidism OMIM:130650 KCNQ1OT1 10984 HP:0000175 Cleft palate OMIM:130650 KCNQ1OT1 10984 HP:0100555 Asymmetric growth OMIM:130650 KCNQ1OT1 10984 HP:0000973 Cutis laxa OMIM:130650 KCNQ1OT1 10984 HP:0001943 Hypoglycemia OMIM:130650 KCNQ1OT1 10984 HP:0000383 Abnormality of periauricular region OMIM:130650 KCNQ1OT1 10984 HP:0000280 Coarse facial features OMIM:130650 KCNQ1OT1 10984 HP:0001639 Hypertrophic cardiomyopathy OMIM:130650 KCNQ1OT1 10984 HP:0000157 Abnormality of the tongue OMIM:130650 KCNQ1OT1 10984 HP:0002104 Apnea OMIM:130650 KCNQ1OT1 10984 HP:0000154 Wide mouth OMIM:130650 KCNQ1OT1 10984 HP:0000098 Tall stature OMIM:130650 KCNQ1OT1 10984 HP:0001540 Diastasis recti OMIM:130650 KCNQ1OT1 10984 HP:0001305 Dandy-Walker malformation OMIM:130650 KCNQ1OT1 10984 HP:0000520 Proptosis OMIM:130650 KCNQ1OT1 10984 HP:0009908 Anterior creases of earlobe OMIM:130650 KCNQ1OT1 10984 HP:0100589 Urogenital fistula OMIM:130650 KCNQ1OT1 10984 HP:0001528 Hemihypertrophy OMIM:130650 KCNQ1OT1 10984 HP:0100242 Sarcoma OMIM:130650 KCNQ1OT1 10984 HP:0000158 Macroglossia OMIM:130650 KCNQ1OT1 10984 HP:0006277 Pancreatic hyperplasia OMIM:130650 KCNQ1OT1 10984 HP:0000995 Melanocytic nevus OMIM:130650 H19-ICR 105259599 HP:0006744 Adrenocortical carcinoma OMIM:130650 H19-ICR 105259599 HP:0000239 Large fontanelles OMIM:130650 H19-ICR 105259599 HP:0005616 Accelerated skeletal maturation OMIM:130650 H19-ICR 105259599 HP:0000834 Abnormality of the adrenal glands OMIM:130650 H19-ICR 105259599 HP:0000269 Prominent occiput OMIM:130650 H19-ICR 105259599 HP:0000112 Nephropathy OMIM:130650 H19-ICR 105259599 HP:0001537 Umbilical hernia OMIM:130650 H19-ICR 105259599 HP:0001548 Overgrowth OMIM:130650 H19-ICR 105259599 HP:0002667 Nephroblastoma (Wilms tumor) OMIM:130650 H19-ICR 105259599 HP:0000113 Polycystic kidney dysplasia OMIM:130650 H19-ICR 105259599 HP:0001539 Omphalocele OMIM:130650 H19-ICR 105259599 HP:0000776 Congenital diaphragmatic hernia OMIM:130650 H19-ICR 105259599 HP:0002167 Neurological speech impairment OMIM:130650 H19-ICR 105259599 HP:0000028 Cryptorchidism OMIM:130650 H19-ICR 105259599 HP:0002884 Hepatoblastoma OMIM:130650 H19-ICR 105259599 HP:0003247 Overgrowth of external genitalia OMIM:130650 H19-ICR 105259599 HP:0001738 Exocrine pancreatic insufficiency OMIM:130650 H19-ICR 105259599 HP:0002240 Hepatomegaly OMIM:130650 H19-ICR 105259599 HP:0000272 Malar flattening OMIM:130650 H19-ICR 105259599 HP:0000150 Gonadoblastoma OMIM:130650 H19-ICR 105259599 HP:0002896 Neoplasm of the liver OMIM:130650 H19-ICR 105259599 HP:0001638 Cardiomyopathy OMIM:130650 H19-ICR 105259599 HP:0000006 Autosomal dominant inheritance OMIM:130650 H19-ICR 105259599 HP:0001744 Splenomegaly OMIM:130650 H19-ICR 105259599 HP:0001640 Cardiomegaly OMIM:130650 H19-ICR 105259599 HP:0008186 Adrenocortical cytomegaly OMIM:130650 H19-ICR 105259599 HP:0000598 Abnormality of the ear OMIM:130650 H19-ICR 105259599 HP:0011039 Abnormality of the helix OMIM:130650 H19-ICR 105259599 HP:0001998 Neonatal hypoglycemia OMIM:130650 H19-ICR 105259599 HP:0003006 Neuroblastoma OMIM:130650 H19-ICR 105259599 HP:0000105 Enlarged kidneys OMIM:130650 H19-ICR 105259599 HP:0000821 Hypothyroidism OMIM:130650 H19-ICR 105259599 HP:0000175 Cleft palate OMIM:130650 H19-ICR 105259599 HP:0100555 Asymmetric growth OMIM:130650 H19-ICR 105259599 HP:0000973 Cutis laxa OMIM:130650 H19-ICR 105259599 HP:0001943 Hypoglycemia OMIM:130650 H19-ICR 105259599 HP:0000383 Abnormality of periauricular region OMIM:130650 H19-ICR 105259599 HP:0000280 Coarse facial features OMIM:130650 H19-ICR 105259599 HP:0001639 Hypertrophic cardiomyopathy OMIM:130650 H19-ICR 105259599 HP:0000157 Abnormality of the tongue OMIM:130650 H19-ICR 105259599 HP:0002104 Apnea OMIM:130650 H19-ICR 105259599 HP:0000154 Wide mouth OMIM:130650 H19-ICR 105259599 HP:0000098 Tall stature OMIM:130650 H19-ICR 105259599 HP:0001540 Diastasis recti OMIM:130650 H19-ICR 105259599 HP:0001305 Dandy-Walker malformation OMIM:130650 H19-ICR 105259599 HP:0000520 Proptosis OMIM:130650 H19-ICR 105259599 HP:0009908 Anterior creases of earlobe OMIM:130650 H19-ICR 105259599 HP:0100589 Urogenital fistula OMIM:130650 H19-ICR 105259599 HP:0001528 Hemihypertrophy OMIM:130650 H19-ICR 105259599 HP:0100242 Sarcoma OMIM:130650 H19-ICR 105259599 HP:0000158 Macroglossia OMIM:130650 H19-ICR 105259599 HP:0006277 Pancreatic hyperplasia OMIM:130650 H19-ICR 105259599 HP:0000995 Melanocytic nevus OMIM:130650 NSD1 64324 HP:0006744 Adrenocortical carcinoma OMIM:130650 NSD1 64324 HP:0000239 Large fontanelles OMIM:130650 NSD1 64324 HP:0005616 Accelerated skeletal maturation OMIM:130650 NSD1 64324 HP:0000834 Abnormality of the adrenal glands OMIM:130650 NSD1 64324 HP:0000269 Prominent occiput OMIM:130650 NSD1 64324 HP:0000112 Nephropathy OMIM:130650 NSD1 64324 HP:0001537 Umbilical hernia OMIM:130650 NSD1 64324 HP:0001548 Overgrowth OMIM:130650 NSD1 64324 HP:0002667 Nephroblastoma (Wilms tumor) OMIM:130650 NSD1 64324 HP:0000113 Polycystic kidney dysplasia OMIM:130650 NSD1 64324 HP:0001539 Omphalocele OMIM:130650 NSD1 64324 HP:0000776 Congenital diaphragmatic hernia OMIM:130650 NSD1 64324 HP:0002167 Neurological speech impairment OMIM:130650 NSD1 64324 HP:0000028 Cryptorchidism OMIM:130650 NSD1 64324 HP:0002884 Hepatoblastoma OMIM:130650 NSD1 64324 HP:0003247 Overgrowth of external genitalia OMIM:130650 NSD1 64324 HP:0001738 Exocrine pancreatic insufficiency OMIM:130650 NSD1 64324 HP:0002240 Hepatomegaly OMIM:130650 NSD1 64324 HP:0000272 Malar flattening OMIM:130650 NSD1 64324 HP:0000150 Gonadoblastoma OMIM:130650 NSD1 64324 HP:0002896 Neoplasm of the liver OMIM:130650 NSD1 64324 HP:0001638 Cardiomyopathy OMIM:130650 NSD1 64324 HP:0000006 Autosomal dominant inheritance OMIM:130650 NSD1 64324 HP:0001744 Splenomegaly OMIM:130650 NSD1 64324 HP:0001640 Cardiomegaly OMIM:130650 NSD1 64324 HP:0008186 Adrenocortical cytomegaly OMIM:130650 NSD1 64324 HP:0000598 Abnormality of the ear OMIM:130650 NSD1 64324 HP:0011039 Abnormality of the helix OMIM:130650 NSD1 64324 HP:0001998 Neonatal hypoglycemia OMIM:130650 NSD1 64324 HP:0003006 Neuroblastoma OMIM:130650 NSD1 64324 HP:0000105 Enlarged kidneys OMIM:130650 NSD1 64324 HP:0000821 Hypothyroidism OMIM:130650 NSD1 64324 HP:0000175 Cleft palate OMIM:130650 NSD1 64324 HP:0100555 Asymmetric growth OMIM:130650 NSD1 64324 HP:0000973 Cutis laxa OMIM:130650 NSD1 64324 HP:0001943 Hypoglycemia OMIM:130650 NSD1 64324 HP:0000383 Abnormality of periauricular region OMIM:130650 NSD1 64324 HP:0000280 Coarse facial features OMIM:130650 NSD1 64324 HP:0001639 Hypertrophic cardiomyopathy OMIM:130650 NSD1 64324 HP:0000157 Abnormality of the tongue OMIM:130650 NSD1 64324 HP:0002104 Apnea OMIM:130650 NSD1 64324 HP:0000154 Wide mouth OMIM:130650 NSD1 64324 HP:0000098 Tall stature OMIM:130650 NSD1 64324 HP:0001540 Diastasis recti OMIM:130650 NSD1 64324 HP:0001305 Dandy-Walker malformation OMIM:130650 NSD1 64324 HP:0000520 Proptosis OMIM:130650 NSD1 64324 HP:0009908 Anterior creases of earlobe OMIM:130650 NSD1 64324 HP:0100589 Urogenital fistula OMIM:130650 NSD1 64324 HP:0001528 Hemihypertrophy OMIM:130650 NSD1 64324 HP:0100242 Sarcoma OMIM:130650 NSD1 64324 HP:0000158 Macroglossia OMIM:130650 NSD1 64324 HP:0006277 Pancreatic hyperplasia OMIM:130650 NSD1 64324 HP:0000995 Melanocytic nevus OMIM:130650 CDKN1C 1028 HP:0006744 Adrenocortical carcinoma OMIM:130650 CDKN1C 1028 HP:0000239 Large fontanelles OMIM:130650 CDKN1C 1028 HP:0005616 Accelerated skeletal maturation OMIM:130650 CDKN1C 1028 HP:0000834 Abnormality of the adrenal glands OMIM:130650 CDKN1C 1028 HP:0000269 Prominent occiput OMIM:130650 CDKN1C 1028 HP:0000112 Nephropathy OMIM:130650 CDKN1C 1028 HP:0001537 Umbilical hernia OMIM:130650 CDKN1C 1028 HP:0001548 Overgrowth OMIM:130650 CDKN1C 1028 HP:0002667 Nephroblastoma (Wilms tumor) OMIM:130650 CDKN1C 1028 HP:0000113 Polycystic kidney dysplasia OMIM:130650 CDKN1C 1028 HP:0001539 Omphalocele OMIM:130650 CDKN1C 1028 HP:0000776 Congenital diaphragmatic hernia OMIM:130650 CDKN1C 1028 HP:0002167 Neurological speech impairment OMIM:130650 CDKN1C 1028 HP:0000028 Cryptorchidism OMIM:130650 CDKN1C 1028 HP:0002884 Hepatoblastoma OMIM:130650 CDKN1C 1028 HP:0003247 Overgrowth of external genitalia OMIM:130650 CDKN1C 1028 HP:0001738 Exocrine pancreatic insufficiency OMIM:130650 CDKN1C 1028 HP:0002240 Hepatomegaly OMIM:130650 CDKN1C 1028 HP:0000272 Malar flattening OMIM:130650 CDKN1C 1028 HP:0000150 Gonadoblastoma OMIM:130650 CDKN1C 1028 HP:0002896 Neoplasm of the liver OMIM:130650 CDKN1C 1028 HP:0001638 Cardiomyopathy OMIM:130650 CDKN1C 1028 HP:0000006 Autosomal dominant inheritance OMIM:130650 CDKN1C 1028 HP:0001744 Splenomegaly OMIM:130650 CDKN1C 1028 HP:0001640 Cardiomegaly OMIM:130650 CDKN1C 1028 HP:0008186 Adrenocortical cytomegaly OMIM:130650 CDKN1C 1028 HP:0000598 Abnormality of the ear OMIM:130650 CDKN1C 1028 HP:0011039 Abnormality of the helix OMIM:130650 CDKN1C 1028 HP:0001998 Neonatal hypoglycemia OMIM:130650 CDKN1C 1028 HP:0003006 Neuroblastoma OMIM:130650 CDKN1C 1028 HP:0000105 Enlarged kidneys OMIM:130650 CDKN1C 1028 HP:0000821 Hypothyroidism OMIM:130650 CDKN1C 1028 HP:0000175 Cleft palate OMIM:130650 CDKN1C 1028 HP:0100555 Asymmetric growth OMIM:130650 CDKN1C 1028 HP:0000973 Cutis laxa OMIM:130650 CDKN1C 1028 HP:0001943 Hypoglycemia OMIM:130650 CDKN1C 1028 HP:0000383 Abnormality of periauricular region OMIM:130650 CDKN1C 1028 HP:0000280 Coarse facial features OMIM:130650 CDKN1C 1028 HP:0001639 Hypertrophic cardiomyopathy OMIM:130650 CDKN1C 1028 HP:0000157 Abnormality of the tongue OMIM:130650 CDKN1C 1028 HP:0002104 Apnea OMIM:130650 CDKN1C 1028 HP:0000154 Wide mouth OMIM:130650 CDKN1C 1028 HP:0000098 Tall stature OMIM:130650 CDKN1C 1028 HP:0001540 Diastasis recti OMIM:130650 CDKN1C 1028 HP:0001305 Dandy-Walker malformation OMIM:130650 CDKN1C 1028 HP:0000520 Proptosis OMIM:130650 CDKN1C 1028 HP:0009908 Anterior creases of earlobe OMIM:130650 CDKN1C 1028 HP:0100589 Urogenital fistula OMIM:130650 CDKN1C 1028 HP:0001528 Hemihypertrophy OMIM:130650 CDKN1C 1028 HP:0100242 Sarcoma OMIM:130650 CDKN1C 1028 HP:0000158 Macroglossia OMIM:130650 CDKN1C 1028 HP:0006277 Pancreatic hyperplasia OMIM:130650 CDKN1C 1028 HP:0000995 Melanocytic nevus OMIM:130650 H19 283120 HP:0006744 Adrenocortical carcinoma OMIM:130650 H19 283120 HP:0000239 Large fontanelles OMIM:130650 H19 283120 HP:0005616 Accelerated skeletal maturation OMIM:130650 H19 283120 HP:0000834 Abnormality of the adrenal glands OMIM:130650 H19 283120 HP:0000269 Prominent occiput OMIM:130650 H19 283120 HP:0000112 Nephropathy OMIM:130650 H19 283120 HP:0001537 Umbilical hernia OMIM:130650 H19 283120 HP:0001548 Overgrowth OMIM:130650 H19 283120 HP:0002667 Nephroblastoma (Wilms tumor) OMIM:130650 H19 283120 HP:0000113 Polycystic kidney dysplasia OMIM:130650 H19 283120 HP:0001539 Omphalocele OMIM:130650 H19 283120 HP:0000776 Congenital diaphragmatic hernia OMIM:130650 H19 283120 HP:0002167 Neurological speech impairment OMIM:130650 H19 283120 HP:0000028 Cryptorchidism OMIM:130650 H19 283120 HP:0002884 Hepatoblastoma OMIM:130650 H19 283120 HP:0003247 Overgrowth of external genitalia OMIM:130650 H19 283120 HP:0001738 Exocrine pancreatic insufficiency OMIM:130650 H19 283120 HP:0002240 Hepatomegaly OMIM:130650 H19 283120 HP:0000272 Malar flattening OMIM:130650 H19 283120 HP:0000150 Gonadoblastoma OMIM:130650 H19 283120 HP:0002896 Neoplasm of the liver OMIM:130650 H19 283120 HP:0001638 Cardiomyopathy OMIM:130650 H19 283120 HP:0000006 Autosomal dominant inheritance OMIM:130650 H19 283120 HP:0001744 Splenomegaly OMIM:130650 H19 283120 HP:0001640 Cardiomegaly OMIM:130650 H19 283120 HP:0008186 Adrenocortical cytomegaly OMIM:130650 H19 283120 HP:0000598 Abnormality of the ear OMIM:130650 H19 283120 HP:0011039 Abnormality of the helix OMIM:130650 H19 283120 HP:0001998 Neonatal hypoglycemia OMIM:130650 H19 283120 HP:0003006 Neuroblastoma OMIM:130650 H19 283120 HP:0000105 Enlarged kidneys OMIM:130650 H19 283120 HP:0000821 Hypothyroidism OMIM:130650 H19 283120 HP:0000175 Cleft palate OMIM:130650 H19 283120 HP:0100555 Asymmetric growth OMIM:130650 H19 283120 HP:0000973 Cutis laxa OMIM:130650 H19 283120 HP:0001943 Hypoglycemia OMIM:130650 H19 283120 HP:0000383 Abnormality of periauricular region OMIM:130650 H19 283120 HP:0000280 Coarse facial features OMIM:130650 H19 283120 HP:0001639 Hypertrophic cardiomyopathy OMIM:130650 H19 283120 HP:0000157 Abnormality of the tongue OMIM:130650 H19 283120 HP:0002104 Apnea OMIM:130650 H19 283120 HP:0000154 Wide mouth OMIM:130650 H19 283120 HP:0000098 Tall stature OMIM:130650 H19 283120 HP:0001540 Diastasis recti OMIM:130650 H19 283120 HP:0001305 Dandy-Walker malformation OMIM:130650 H19 283120 HP:0000520 Proptosis OMIM:130650 H19 283120 HP:0009908 Anterior creases of earlobe OMIM:130650 H19 283120 HP:0100589 Urogenital fistula OMIM:130650 H19 283120 HP:0001528 Hemihypertrophy OMIM:130650 H19 283120 HP:0100242 Sarcoma OMIM:130650 H19 283120 HP:0000158 Macroglossia OMIM:130650 H19 283120 HP:0006277 Pancreatic hyperplasia OMIM:130650 H19 283120 HP:0000995 Melanocytic nevus OMIM:612949 SLC25A12 8604 HP:0000817 Poor eye contact OMIM:612949 SLC25A12 8604 HP:0006808 Cerebral hypomyelination OMIM:612949 SLC25A12 8604 HP:0001250 Seizures OMIM:612949 SLC25A12 8604 HP:0000007 Autosomal recessive inheritance OMIM:612949 SLC25A12 8604 HP:0003593 Infantile onset OMIM:612949 SLC25A12 8604 HP:0001263 Global developmental delay OMIM:612949 SLC25A12 8604 HP:0001257 Spasticity OMIM:612949 SLC25A12 8604 HP:0006829 Severe muscular hypotonia OMIM:612949 SLC25A12 8604 HP:0001347 Hyperreflexia OMIM:616370 ISCA2 122961 HP:0001344 Absent speech OMIM:616370 ISCA2 122961 HP:0001257 Spasticity OMIM:616370 ISCA2 122961 HP:0002415 Leukodystrophy OMIM:616370 ISCA2 122961 HP:0000648 Optic atrophy OMIM:616370 ISCA2 122961 HP:0002518 Abnormality of the periventricular white matter OMIM:216950 C1R 715 HP:0002837 Recurrent bronchitis OMIM:216950 C1R 715 HP:0007417 Discoid lupus erythematosus OMIM:216950 C1R 715 HP:0004431 Complement deficiency OMIM:216950 C1R 715 HP:0000123 Nephritis OMIM:216950 C1R 715 HP:0001369 Arthritis OMIM:216950 C1R 715 HP:0000007 Autosomal recessive inheritance OMIM:216950 C1R 715 HP:0002960 Autoimmunity OMIM:216950 C1R 715 HP:0002829 Arthralgia OMIM:615573 ADCK4 79934 HP:0000007 Autosomal recessive inheritance OMIM:615573 ADCK4 79934 HP:0003676 Progressive disorder OMIM:615573 ADCK4 79934 HP:0000093 Proteinuria OMIM:615573 ADCK4 79934 HP:0000969 Edema OMIM:615573 ADCK4 79934 HP:0003774 Stage 5 chronic kidney disease OMIM:615573 ADCK4 79934 HP:0000100 Nephrotic syndrome OMIM:615573 ADCK4 79934 HP:0003073 Hypoalbuminemia OMIM:614492 WNK1 65125 HP:0002153 Hyperkalemia OMIM:614492 WNK1 65125 HP:0000006 Autosomal dominant inheritance OMIM:614492 WNK1 65125 HP:0008242 Pseudohypoaldosteronism OMIM:614492 WNK1 65125 HP:0001942 Metabolic acidosis OMIM:614492 WNK1 65125 HP:0011423 Hyperchloremia OMIM:614492 WNK1 65125 HP:0000822 Hypertension OMIM:614205 CCDC8 83987 HP:0000463 Anteverted nares OMIM:614205 CCDC8 83987 HP:0003307 Hyperlordosis OMIM:614205 CCDC8 83987 HP:0000470 Short neck OMIM:614205 CCDC8 83987 HP:0004570 Increased vertebral height OMIM:614205 CCDC8 83987 HP:0004322 Short stature OMIM:614205 CCDC8 83987 HP:0000325 Triangular face OMIM:614205 CCDC8 83987 HP:0000411 Protruding ear OMIM:614205 CCDC8 83987 HP:0000007 Autosomal recessive inheritance OMIM:614205 CCDC8 83987 HP:0000307 Pointed chin OMIM:614205 CCDC8 83987 HP:0001385 Hip dysplasia OMIM:614205 CCDC8 83987 HP:0011800 Midface retrusion OMIM:614205 CCDC8 83987 HP:0001518 Small for gestational age OMIM:614205 CCDC8 83987 HP:0003100 Slender long bone OMIM:614205 CCDC8 83987 HP:0010306 Short thorax OMIM:614205 CCDC8 83987 HP:0000268 Dolichocephaly OMIM:614205 CCDC8 83987 HP:0000272 Malar flattening OMIM:614205 CCDC8 83987 HP:0002007 Frontal bossing OMIM:602629 THAP1 55145 HP:0001336 Myoclonus OMIM:602629 THAP1 55145 HP:0000234 Abnormality of the head OMIM:602629 THAP1 55145 HP:0002356 Writer's cramp OMIM:602629 THAP1 55145 HP:0001304 Torsion dystonia OMIM:602629 THAP1 55145 HP:0001260 Dysarthria OMIM:602629 THAP1 55145 HP:0012049 Laryngeal dystonia OMIM:602629 THAP1 55145 HP:0002451 Limb dystonia OMIM:602629 THAP1 55145 HP:0000473 Torticollis OMIM:602629 THAP1 55145 HP:0000006 Autosomal dominant inheritance OMIM:602629 THAP1 55145 HP:0012048 Oromandibular dystonia OMIM:602629 THAP1 55145 HP:0003829 Incomplete penetrance OMIM:612921 OBSL1 23363 HP:0012428 Prominent calcaneus OMIM:612921 OBSL1 23363 HP:0012471 Thick vermilion border OMIM:612921 OBSL1 23363 HP:0003100 Slender long bone OMIM:612921 OBSL1 23363 HP:0003307 Hyperlordosis OMIM:612921 OBSL1 23363 HP:0000411 Protruding ear OMIM:612921 OBSL1 23363 HP:0000463 Anteverted nares OMIM:612921 OBSL1 23363 HP:0000268 Dolichocephaly OMIM:612921 OBSL1 23363 HP:0000325 Triangular face OMIM:612921 OBSL1 23363 HP:0000307 Pointed chin OMIM:612921 OBSL1 23363 HP:0005274 Prominent nasal tip OMIM:612921 OBSL1 23363 HP:0000343 Long philtrum OMIM:612921 OBSL1 23363 HP:0000007 Autosomal recessive inheritance OMIM:612921 OBSL1 23363 HP:0003691 Scapular winging OMIM:612921 OBSL1 23363 HP:0000272 Malar flattening OMIM:612921 OBSL1 23363 HP:0004322 Short stature OMIM:612921 OBSL1 23363 HP:0000470 Short neck OMIM:612921 OBSL1 23363 HP:0002007 Frontal bossing OMIM:133100 JAK2 3717 HP:0004418 Thrombophlebitis OMIM:133100 JAK2 3717 HP:0001658 Myocardial infarction OMIM:133100 JAK2 3717 HP:0001898 Increased red blood cell mass OMIM:133100 JAK2 3717 HP:0001050 Plethora OMIM:133100 JAK2 3717 HP:0002829 Arthralgia OMIM:133100 JAK2 3717 HP:0001900 Increased hemoglobin OMIM:133100 JAK2 3717 HP:0002321 Vertigo OMIM:133100 JAK2 3717 HP:0002875 Exertional dyspnea OMIM:133100 JAK2 3717 HP:0000822 Hypertension OMIM:133100 JAK2 3717 HP:0012378 Fatigue OMIM:133100 JAK2 3717 HP:0000421 Epistaxis OMIM:133100 JAK2 3717 HP:0002027 Abdominal pain OMIM:133100 JAK2 3717 HP:0002637 Cerebral ischemia OMIM:133100 JAK2 3717 HP:0002315 Headache OMIM:133100 JAK2 3717 HP:0000006 Autosomal dominant inheritance OMIM:133100 JAK2 3717 HP:0001877 Abnormality of erythrocytes OMIM:133100 JAK2 3717 HP:0002076 Migraine OMIM:133100 JAK2 3717 HP:0010472 Abnormality of the heme biosynthetic pathway OMIM:133100 JAK2 3717 HP:0002104 Apnea OMIM:133100 JAK2 3717 HP:0001744 Splenomegaly OMIM:133100 JAK2 3717 HP:0000989 Pruritus OMIM:133100 JAK2 3717 HP:0002641 Peripheral thrombosis OMIM:133100 JAK2 3717 HP:0001342 Cerebral hemorrhage OMIM:133100 JAK2 3717 HP:0001928 Abnormality of coagulation OMIM:133100 JAK2 3717 HP:0002093 Respiratory insufficiency OMIM:133100 JAK2 3717 HP:0001899 Increased hematocrit OMIM:133100 SH2B3 10019 HP:0004418 Thrombophlebitis OMIM:133100 SH2B3 10019 HP:0001658 Myocardial infarction OMIM:133100 SH2B3 10019 HP:0001898 Increased red blood cell mass OMIM:133100 SH2B3 10019 HP:0001050 Plethora OMIM:133100 SH2B3 10019 HP:0002829 Arthralgia OMIM:133100 SH2B3 10019 HP:0001900 Increased hemoglobin OMIM:133100 SH2B3 10019 HP:0002321 Vertigo OMIM:133100 SH2B3 10019 HP:0002875 Exertional dyspnea OMIM:133100 SH2B3 10019 HP:0000822 Hypertension OMIM:133100 SH2B3 10019 HP:0012378 Fatigue OMIM:133100 SH2B3 10019 HP:0000421 Epistaxis OMIM:133100 SH2B3 10019 HP:0002027 Abdominal pain OMIM:133100 SH2B3 10019 HP:0002637 Cerebral ischemia OMIM:133100 SH2B3 10019 HP:0002315 Headache OMIM:133100 SH2B3 10019 HP:0000006 Autosomal dominant inheritance OMIM:133100 SH2B3 10019 HP:0001877 Abnormality of erythrocytes OMIM:133100 SH2B3 10019 HP:0002076 Migraine OMIM:133100 SH2B3 10019 HP:0010472 Abnormality of the heme biosynthetic pathway OMIM:133100 SH2B3 10019 HP:0002104 Apnea OMIM:133100 SH2B3 10019 HP:0001744 Splenomegaly OMIM:133100 SH2B3 10019 HP:0000989 Pruritus OMIM:133100 SH2B3 10019 HP:0002641 Peripheral thrombosis OMIM:133100 SH2B3 10019 HP:0001342 Cerebral hemorrhage OMIM:133100 SH2B3 10019 HP:0001928 Abnormality of coagulation OMIM:133100 SH2B3 10019 HP:0002093 Respiratory insufficiency OMIM:133100 SH2B3 10019 HP:0001899 Increased hematocrit OMIM:249400 NRAS 4893 HP:0001268 Mental deterioration OMIM:249400 NRAS 4893 HP:0007440 Generalized hyperpigmentation OMIM:249400 NRAS 4893 HP:0001522 Death in infancy OMIM:249400 NRAS 4893 HP:0001263 Global developmental delay OMIM:249400 NRAS 4893 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:249400 NRAS 4893 HP:0000567 Chorioretinal coloboma OMIM:249400 NRAS 4893 HP:0100702 Arachnoid cyst OMIM:249400 NRAS 4893 HP:0100543 Cognitive impairment OMIM:249400 NRAS 4893 HP:0002383 Encephalitis OMIM:249400 NRAS 4893 HP:0004374 Hemiplegia/hemiparesis OMIM:249400 NRAS 4893 HP:0000995 Melanocytic nevus OMIM:249400 NRAS 4893 HP:0002353 EEG abnormality OMIM:249400 NRAS 4893 HP:0001072 Thickened skin OMIM:249400 NRAS 4893 HP:0000238 Hydrocephalus OMIM:249400 NRAS 4893 HP:0002861 Melanoma OMIM:249400 NRAS 4893 HP:0006824 Cranial nerve paralysis OMIM:249400 NRAS 4893 HP:0001250 Seizures OMIM:249400 NRAS 4893 HP:0002308 Arnold-Chiari malformation OMIM:249400 NRAS 4893 HP:0002858 Meningioma OMIM:249400 NRAS 4893 HP:0001305 Dandy-Walker malformation OMIM:249400 NRAS 4893 HP:0002170 Intracranial hemorrhage OMIM:249400 NRAS 4893 HP:0008678 Renal hypoplasia/aplasia OMIM:249400 NRAS 4893 HP:0000998 Hypertrichosis OMIM:249400 NRAS 4893 HP:0003745 Sporadic OMIM:249400 NRAS 4893 HP:0000708 Behavioral abnormality OMIM:249400 NRAS 4893 HP:0002269 Abnormality of neuronal migration OMIM:249400 NRAS 4893 HP:0003396 Syringomyelia OMIM:249400 NRAS 4893 HP:0007703 Abnormal retinal pigmentation OMIM:249400 NRAS 4893 HP:0004418 Thrombophlebitis OMIM:249400 NRAS 4893 HP:0200022 Choroid plexus papilloma OMIM:249400 NRAS 4893 HP:0002435 Meningocele OMIM:249400 NRAS 4893 HP:0005603 Numerous congenital melanocytic nevi OMIM:614856 BMP1 649 HP:0000592 Blue sclerae OMIM:614856 BMP1 649 HP:0000337 Broad forehead OMIM:614856 BMP1 649 HP:0001382 Joint hypermobility OMIM:614856 BMP1 649 HP:0000007 Autosomal recessive inheritance OMIM:614856 BMP1 649 HP:0000527 Long eyelashes OMIM:614856 BMP1 649 HP:0000926 Platyspondyly OMIM:614856 BMP1 649 HP:0003083 Dislocated radial head OMIM:614856 BMP1 649 HP:0000325 Triangular face OMIM:614856 BMP1 649 HP:0000637 Long palpebral fissure OMIM:614856 BMP1 649 HP:0001537 Umbilical hernia OMIM:614856 BMP1 649 HP:0002194 Delayed gross motor development OMIM:614856 BMP1 649 HP:0001166 Arachnodactyly OMIM:614856 BMP1 649 HP:0000768 Pectus carinatum OMIM:614856 BMP1 649 HP:0011001 Increased bone mineral density OMIM:614856 BMP1 649 HP:0000411 Protruding ear OMIM:614856 BMP1 649 HP:0004325 Decreased body weight OMIM:614856 BMP1 649 HP:0003202 Skeletal muscle atrophy OMIM:614856 BMP1 649 HP:0002751 Kyphoscoliosis OMIM:614856 BMP1 649 HP:0004322 Short stature OMIM:614856 BMP1 649 HP:0000343 Long philtrum OMIM:614856 BMP1 649 HP:0000939 Osteoporosis OMIM:614856 BMP1 649 HP:0002645 Wormian bones OMIM:614856 BMP1 649 HP:0001252 Muscular hypotonia OMIM:614856 BMP1 649 HP:0000233 Thin vermilion border OMIM:116200 GJA8 2703 HP:0010693 Pulverulent Cataract OMIM:116200 GJA8 2703 HP:0000006 Autosomal dominant inheritance OMIM:116200 GJA8 2703 HP:0100018 Nuclear cataract OMIM:116200 GJA8 2703 HP:0000519 Congenital cataract OMIM:610156 INPP5E 56623 HP:0001956 Truncal obesity OMIM:610156 INPP5E 56623 HP:0000518 Cataract OMIM:610156 INPP5E 56623 HP:0008915 Childhood-onset truncal obesity OMIM:610156 INPP5E 56623 HP:0000007 Autosomal recessive inheritance OMIM:610156 INPP5E 56623 HP:0000505 Visual impairment OMIM:610156 INPP5E 56623 HP:0002342 Intellectual disability, moderate OMIM:610156 INPP5E 56623 HP:0007910 Nonprogressive congenital retinal dystrophy OMIM:610156 INPP5E 56623 HP:0000750 Delayed speech and language development OMIM:610156 INPP5E 56623 HP:0000054 Micropenis ORPHANET:178377 LRP5 4041 HP:0001363 Craniosynostosis ORPHANET:178377 LRP5 4041 HP:0000256 Macrocephaly ORPHANET:178377 LRP5 4041 HP:0000505 Visual impairment ORPHANET:178377 LRP5 4041 HP:0000337 Broad forehead ORPHANET:178377 LRP5 4041 HP:0004493 Craniofacial hyperostosis ORPHANET:178377 LRP5 4041 HP:0011001 Increased bone mineral density ORPHANET:178377 LRP5 4041 HP:0002516 Increased intracranial pressure ORPHANET:178377 LRP5 4041 HP:0000365 Hearing impairment ORPHANET:178377 LRP5 4041 HP:0000316 Hypertelorism ORPHANET:178377 LRP5 4041 HP:0000348 High forehead ORPHANET:178377 LRP5 4041 HP:0000277 Abnormality of the mandible ORPHANET:178377 LRP5 4041 HP:0010628 Facial palsy ORPHANET:178377 LRP5 4041 HP:0000648 Optic atrophy ORPHANET:178377 LRP5 4041 HP:0002076 Migraine ORPHANET:178377 LRP5 4041 HP:0100543 Cognitive impairment OMIM:611556 GYS1 2997 HP:0002069 Generalized tonic-clonic seizures OMIM:611556 GYS1 2997 HP:0000007 Autosomal recessive inheritance OMIM:611556 GYS1 2997 HP:0012270 Decreased muscle glycogen content OMIM:611556 GYS1 2997 HP:0003546 Exercise intolerance OMIM:611556 GYS1 2997 HP:0001712 Left ventricular hypertrophy OMIM:611556 GYS1 2997 HP:0001638 Cardiomyopathy OMIM:243060 AURKC 6795 HP:0000007 Autosomal recessive inheritance OMIM:243060 AURKC 6795 HP:0000025 Functional abnormality of male internal genitalia OMIM:243060 AURKC 6795 HP:0003251 Male infertility OMIM:256840 CCT5 22948 HP:0006827 Atrophy of the spinal cord OMIM:256840 CCT5 22948 HP:0000007 Autosomal recessive inheritance OMIM:256840 CCT5 22948 HP:0003431 Decreased motor nerve conduction velocity OMIM:256840 CCT5 22948 HP:0001760 Abnormality of the foot OMIM:256840 CCT5 22948 HP:0003563 Hypobetalipoproteinemia OMIM:256840 CCT5 22948 HP:0003487 Babinski sign OMIM:256840 CCT5 22948 HP:0007328 Impaired pain sensation OMIM:256840 CCT5 22948 HP:0002754 Osteomyelitis OMIM:256840 CCT5 22948 HP:0003621 Juvenile onset OMIM:256840 CCT5 22948 HP:0003593 Infantile onset OMIM:256840 CCT5 22948 HP:0003146 Hypocholesterolemia OMIM:256840 CCT5 22948 HP:0004374 Hemiplegia/hemiparesis OMIM:256840 CCT5 22948 HP:0001347 Hyperreflexia OMIM:256840 CCT5 22948 HP:0001288 Gait disturbance OMIM:256840 CCT5 22948 HP:0002270 Abnormality of the autonomic nervous system OMIM:256840 CCT5 22948 HP:0001226 Acral ulceration and osteomyelitis leading to autoamputation of digits OMIM:256840 CCT5 22948 HP:0003477 Peripheral axonal neuropathy OMIM:256840 CCT5 22948 HP:0003693 Distal amyotrophy OMIM:256840 CCT5 22948 HP:0001258 Spastic paraplegia OMIM:256840 CCT5 22948 HP:0002169 Clonus OMIM:256840 CCT5 22948 HP:0001276 Hypertonia OMIM:256840 CCT5 22948 HP:0002064 Spastic gait OMIM:256840 CCT5 22948 HP:0100716 Self-injurious behavior OMIM:256840 CCT5 22948 HP:0006984 Distal sensory loss of all modalities OMIM:256840 CCT5 22948 HP:0002936 Distal sensory impairment OMIM:176305 HOXA13 3209 HP:0010624 Aplastic/hypoplastic toenail OMIM:176305 HOXA13 3209 HP:0004209 Clinodactyly of the 5th finger OMIM:176305 HOXA13 3209 HP:0000006 Autosomal dominant inheritance OMIM:176305 HOXA13 3209 HP:0009882 Short distal phalanx of finger OMIM:176305 HOXA13 3209 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:176305 HOXA13 3209 HP:0000807 Glandular hypospadias OMIM:176305 HOXA13 3209 HP:0001162 Postaxial hand polydactyly OMIM:176305 HOXA13 3209 HP:0001885 Short 2nd toe OMIM:176305 HOXA13 3209 HP:0010109 Short hallux OMIM:176305 HOXA13 3209 HP:0100627 Displacement of the external urethral meatus OMIM:176305 HOXA13 3209 HP:0001156 Brachydactyly syndrome OMIM:602398 DHCR24 1718 HP:0001883 Talipes OMIM:602398 DHCR24 1718 HP:0001338 Partial agenesis of the corpus callosum OMIM:602398 DHCR24 1718 HP:0002269 Abnormality of neuronal migration OMIM:602398 DHCR24 1718 HP:0000639 Nystagmus OMIM:602398 DHCR24 1718 HP:0009748 Large earlobe OMIM:602398 DHCR24 1718 HP:0004322 Short stature OMIM:602398 DHCR24 1718 HP:0000286 Epicanthus OMIM:602398 DHCR24 1718 HP:0000772 Abnormality of the ribs OMIM:602398 DHCR24 1718 HP:0000368 Low-set, posteriorly rotated ears OMIM:602398 DHCR24 1718 HP:0000061 Ambiguous genitalia, female OMIM:602398 DHCR24 1718 HP:0001776 Bilateral talipes equinovarus OMIM:602398 DHCR24 1718 HP:0003812 Phenotypic variability OMIM:602398 DHCR24 1718 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:602398 DHCR24 1718 HP:0000494 Downslanted palpebral fissures OMIM:602398 DHCR24 1718 HP:0000175 Cleft palate OMIM:602398 DHCR24 1718 HP:0000256 Macrocephaly OMIM:602398 DHCR24 1718 HP:0000378 Cupped ear OMIM:602398 DHCR24 1718 HP:0000238 Hydrocephalus OMIM:602398 DHCR24 1718 HP:0005789 Generalized osteosclerosis OMIM:602398 DHCR24 1718 HP:0000062 Ambiguous genitalia OMIM:602398 DHCR24 1718 HP:0002119 Ventriculomegaly OMIM:602398 DHCR24 1718 HP:0008905 Rhizomelia OMIM:602398 DHCR24 1718 HP:0001250 Seizures OMIM:602398 DHCR24 1718 HP:0001643 Patent ductus arteriosus OMIM:602398 DHCR24 1718 HP:0005281 Hypoplastic nasal bridge OMIM:602398 DHCR24 1718 HP:0009924 Aplasia/Hypoplasia involving the nose OMIM:602398 DHCR24 1718 HP:0004482 Relative macrocephaly OMIM:602398 DHCR24 1718 HP:0000347 Micrognathia OMIM:602398 DHCR24 1718 HP:0008678 Renal hypoplasia/aplasia OMIM:602398 DHCR24 1718 HP:0000358 Posteriorly rotated ears OMIM:602398 DHCR24 1718 HP:0001263 Global developmental delay OMIM:602398 DHCR24 1718 HP:0000169 Gingival fibromatosis OMIM:602398 DHCR24 1718 HP:0000007 Autosomal recessive inheritance OMIM:602398 DHCR24 1718 HP:0009826 Limb undergrowth OMIM:602398 DHCR24 1718 HP:0000160 Narrow mouth OMIM:602398 DHCR24 1718 HP:0001744 Splenomegaly OMIM:602398 DHCR24 1718 HP:0008065 Aplasia/Hypoplasia of the skin OMIM:602398 DHCR24 1718 HP:0000486 Strabismus OMIM:602398 DHCR24 1718 HP:0002566 Intestinal malrotation OMIM:602398 DHCR24 1718 HP:0000252 Microcephaly OMIM:602398 DHCR24 1718 HP:0001508 Failure to thrive OMIM:602398 DHCR24 1718 HP:0009085 Alveolar ridge overgrowth OMIM:602398 DHCR24 1718 HP:0002007 Frontal bossing OMIM:602398 DHCR24 1718 HP:0005280 Depressed nasal bridge OMIM:602398 DHCR24 1718 HP:0005160 Total anomalous pulmonary venous return OMIM:602398 DHCR24 1718 HP:0000369 Low-set ears OMIM:602398 DHCR24 1718 HP:0001511 Intrauterine growth retardation OMIM:602398 DHCR24 1718 HP:0001276 Hypertonia OMIM:602398 DHCR24 1718 HP:0100543 Cognitive impairment OMIM:602398 DHCR24 1718 HP:0000033 Ambiguous genitalia, male OMIM:602398 DHCR24 1718 HP:0002804 Arthrogryposis multiplex congenita OMIM:602398 DHCR24 1718 HP:0001257 Spasticity OMIM:602398 DHCR24 1718 HP:0011001 Increased bone mineral density OMIM:602398 DHCR24 1718 HP:0000463 Anteverted nares OMIM:602398 DHCR24 1718 HP:0003196 Short nose OMIM:602398 DHCR24 1718 HP:0003107 Abnormality of cholesterol metabolism OMIM:602398 DHCR24 1718 HP:0010772 Anomalous pulmonary venous return OMIM:602398 DHCR24 1718 HP:0009473 Joint contracture of the hand OMIM:269921 GNE 10020 HP:0011220 Prominent forehead OMIM:269921 GNE 10020 HP:0002557 Hypoplastic nipples OMIM:269921 GNE 10020 HP:0000286 Epicanthus OMIM:269921 GNE 10020 HP:0000219 Thin upper lip vermilion OMIM:269921 GNE 10020 HP:0000431 Wide nasal bridge OMIM:269921 GNE 10020 HP:0000280 Coarse facial features OMIM:269921 GNE 10020 HP:0002650 Scoliosis OMIM:269921 GNE 10020 HP:0000316 Hypertelorism OMIM:269921 GNE 10020 HP:0002162 Low posterior hairline OMIM:269921 GNE 10020 HP:0000629 Periorbital fullness OMIM:269921 GNE 10020 HP:0000006 Autosomal dominant inheritance OMIM:269921 GNE 10020 HP:0002007 Frontal bossing OMIM:269921 GNE 10020 HP:0001744 Splenomegaly OMIM:269921 GNE 10020 HP:0000023 Inguinal hernia OMIM:269921 GNE 10020 HP:0000369 Low-set ears OMIM:269921 GNE 10020 HP:0000319 Smooth philtrum OMIM:269921 GNE 10020 HP:0007018 Attention deficit hyperactivity disorder OMIM:269921 GNE 10020 HP:0002230 Generalized hirsutism OMIM:269921 GNE 10020 HP:0001939 Abnormality of metabolism/homeostasis OMIM:269921 GNE 10020 HP:0004691 2-3 toe syndactyly OMIM:269921 GNE 10020 HP:0002240 Hepatomegaly OMIM:269921 GNE 10020 HP:0001250 Seizures OMIM:269921 GNE 10020 HP:0010535 Sleep apnea OMIM:269921 GNE 10020 HP:0000343 Long philtrum OMIM:269921 GNE 10020 HP:0000218 High palate OMIM:269921 GNE 10020 HP:0005257 Thoracic hypoplasia OMIM:269921 GNE 10020 HP:0001263 Global developmental delay OMIM:269921 GNE 10020 HP:0001847 Long hallux OMIM:269921 GNE 10020 HP:0000664 Synophrys OMIM:269921 GNE 10020 HP:0001538 Protuberant abdomen ORPHANET:90349 FBLN5 10516 HP:0000076 Vesicoureteral reflux ORPHANET:90349 FBLN5 10516 HP:0007495 Prematurely aged appearance ORPHANET:90349 FBLN5 10516 HP:0004414 Abnormality of the pulmonary artery ORPHANET:90349 FBLN5 10516 HP:0000821 Hypothyroidism ORPHANET:90349 FBLN5 10516 HP:0001382 Joint hypermobility ORPHANET:90349 FBLN5 10516 HP:0100545 Arterial stenosis ORPHANET:90349 FBLN5 10516 HP:0000010 Recurrent urinary tract infections ORPHANET:90349 FBLN5 10516 HP:0004299 Hernia of the abdominal wall ORPHANET:90349 FBLN5 10516 HP:0002617 Aneurysm ORPHANET:90349 FBLN5 10516 HP:0000776 Congenital diaphragmatic hernia ORPHANET:90349 FBLN5 10516 HP:0002757 Recurrent fractures ORPHANET:90349 FBLN5 10516 HP:0001635 Congestive heart failure ORPHANET:90349 FBLN5 10516 HP:0000015 Bladder diverticulum ORPHANET:90349 FBLN5 10516 HP:0000293 Full cheeks ORPHANET:90349 FBLN5 10516 HP:0004349 Reduced bone mineral density ORPHANET:90349 FBLN5 10516 HP:0002093 Respiratory insufficiency ORPHANET:90349 FBLN5 10516 HP:0000508 Ptosis ORPHANET:90349 FBLN5 10516 HP:0001166 Arachnodactyly ORPHANET:90349 FBLN5 10516 HP:0002645 Wormian bones ORPHANET:90349 FBLN5 10516 HP:0002097 Emphysema ORPHANET:90349 FBLN5 10516 HP:0005214 Intestinal obstruction ORPHANET:90349 FBLN5 10516 HP:0000973 Cutis laxa ORPHANET:90349 FBLN5 10516 HP:0011675 Arrhythmia ORPHANET:90349 FBLN5 10516 HP:0100750 Atelectasis ORPHANET:90349 FBLN5 10516 HP:0005111 Dilatation of the ascending aorta ORPHANET:90349 FBLN5 10516 HP:0005222 Bowel diverticulosis ORPHANET:90349 EFEMP2 30008 HP:0000076 Vesicoureteral reflux ORPHANET:90349 EFEMP2 30008 HP:0007495 Prematurely aged appearance ORPHANET:90349 EFEMP2 30008 HP:0004414 Abnormality of the pulmonary artery ORPHANET:90349 EFEMP2 30008 HP:0000821 Hypothyroidism ORPHANET:90349 EFEMP2 30008 HP:0001382 Joint hypermobility ORPHANET:90349 EFEMP2 30008 HP:0100545 Arterial stenosis ORPHANET:90349 EFEMP2 30008 HP:0000010 Recurrent urinary tract infections ORPHANET:90349 EFEMP2 30008 HP:0004299 Hernia of the abdominal wall ORPHANET:90349 EFEMP2 30008 HP:0002617 Aneurysm ORPHANET:90349 EFEMP2 30008 HP:0000776 Congenital diaphragmatic hernia ORPHANET:90349 EFEMP2 30008 HP:0002757 Recurrent fractures ORPHANET:90349 EFEMP2 30008 HP:0001635 Congestive heart failure ORPHANET:90349 EFEMP2 30008 HP:0000015 Bladder diverticulum ORPHANET:90349 EFEMP2 30008 HP:0000293 Full cheeks ORPHANET:90349 EFEMP2 30008 HP:0004349 Reduced bone mineral density ORPHANET:90349 EFEMP2 30008 HP:0002093 Respiratory insufficiency ORPHANET:90349 EFEMP2 30008 HP:0000508 Ptosis ORPHANET:90349 EFEMP2 30008 HP:0001166 Arachnodactyly ORPHANET:90349 EFEMP2 30008 HP:0002645 Wormian bones ORPHANET:90349 EFEMP2 30008 HP:0002097 Emphysema ORPHANET:90349 EFEMP2 30008 HP:0005214 Intestinal obstruction ORPHANET:90349 EFEMP2 30008 HP:0000973 Cutis laxa ORPHANET:90349 EFEMP2 30008 HP:0011675 Arrhythmia ORPHANET:90349 EFEMP2 30008 HP:0100750 Atelectasis ORPHANET:90349 EFEMP2 30008 HP:0005111 Dilatation of the ascending aorta ORPHANET:90349 EFEMP2 30008 HP:0005222 Bowel diverticulosis OMIM:613116 HRG 3273 HP:0001977 Abnormal thrombosis OMIM:613116 HRG 3273 HP:0000006 Autosomal dominant inheritance OMIM:613116 HRG 3273 HP:0100724 Hypercoagulability OMIM:612540 CNTN1 1272 HP:0001166 Arachnodactyly OMIM:612540 CNTN1 1272 HP:0000007 Autosomal recessive inheritance OMIM:612540 CNTN1 1272 HP:0001518 Small for gestational age OMIM:612540 CNTN1 1272 HP:0001284 Areflexia OMIM:612540 CNTN1 1272 HP:0000300 Oval face OMIM:612540 CNTN1 1272 HP:0001319 Neonatal hypotonia OMIM:612540 CNTN1 1272 HP:0009473 Joint contracture of the hand OMIM:612540 CNTN1 1272 HP:0001989 Fetal akinesia sequence OMIM:612540 CNTN1 1272 HP:0010557 Overlapping fingers OMIM:612540 CNTN1 1272 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:612540 CNTN1 1272 HP:0001561 Polyhydramnios OMIM:612540 CNTN1 1272 HP:0000316 Hypertelorism OMIM:612540 CNTN1 1272 HP:0002033 Poor suck OMIM:612540 CNTN1 1272 HP:0000268 Dolichocephaly OMIM:612540 CNTN1 1272 HP:0001522 Death in infancy OMIM:612540 CNTN1 1272 HP:0002304 Akinesia OMIM:612540 CNTN1 1272 HP:0012385 Camptodactyly OMIM:612540 CNTN1 1272 HP:0000218 High palate OMIM:601067 CDH23 64072 HP:0001751 Vestibular dysfunction OMIM:601067 CDH23 64072 HP:0000510 Retinitis pigmentosa OMIM:601067 CDH23 64072 HP:0000365 Hearing impairment OMIM:601067 CDH23 64072 HP:0000007 Autosomal recessive inheritance OMIM:601067 PCDH15 65217 HP:0001751 Vestibular dysfunction OMIM:601067 PCDH15 65217 HP:0000510 Retinitis pigmentosa OMIM:601067 PCDH15 65217 HP:0000365 Hearing impairment OMIM:601067 PCDH15 65217 HP:0000007 Autosomal recessive inheritance OMIM:202400 FGG 2266 HP:0002170 Intracranial hemorrhage OMIM:202400 FGG 2266 HP:0012223 Splenic rupture OMIM:202400 FGG 2266 HP:0000225 Gingival bleeding OMIM:202400 FGG 2266 HP:0005268 Spontaneous abortion OMIM:202400 FGG 2266 HP:0000007 Autosomal recessive inheritance OMIM:202400 FGG 2266 HP:0000421 Epistaxis OMIM:202400 FGG 2266 HP:0011900 Hypofibrinogenemia OMIM:202400 FGG 2266 HP:0002239 Gastrointestinal hemorrhage OMIM:202400 FGG 2266 HP:0001386 Joint swelling OMIM:202400 FGG 2266 HP:0000140 Abnormality of the menstrual cycle OMIM:202400 FGB 2244 HP:0002170 Intracranial hemorrhage OMIM:202400 FGB 2244 HP:0012223 Splenic rupture OMIM:202400 FGB 2244 HP:0000225 Gingival bleeding OMIM:202400 FGB 2244 HP:0005268 Spontaneous abortion OMIM:202400 FGB 2244 HP:0000007 Autosomal recessive inheritance OMIM:202400 FGB 2244 HP:0000421 Epistaxis OMIM:202400 FGB 2244 HP:0011900 Hypofibrinogenemia OMIM:202400 FGB 2244 HP:0002239 Gastrointestinal hemorrhage OMIM:202400 FGB 2244 HP:0001386 Joint swelling OMIM:202400 FGB 2244 HP:0000140 Abnormality of the menstrual cycle OMIM:202400 FGA 2243 HP:0002170 Intracranial hemorrhage OMIM:202400 FGA 2243 HP:0012223 Splenic rupture OMIM:202400 FGA 2243 HP:0000225 Gingival bleeding OMIM:202400 FGA 2243 HP:0005268 Spontaneous abortion OMIM:202400 FGA 2243 HP:0000007 Autosomal recessive inheritance OMIM:202400 FGA 2243 HP:0000421 Epistaxis OMIM:202400 FGA 2243 HP:0011900 Hypofibrinogenemia OMIM:202400 FGA 2243 HP:0002239 Gastrointestinal hemorrhage OMIM:202400 FGA 2243 HP:0001386 Joint swelling OMIM:202400 FGA 2243 HP:0000140 Abnormality of the menstrual cycle OMIM:268210 SLC22A18 5002 HP:0000007 Autosomal recessive inheritance OMIM:268210 SLC22A18 5002 HP:0006743 Embryonal rhabdomyosarcoma OMIM:132000 COL7A1 1294 HP:0000006 Autosomal dominant inheritance OMIM:132000 COL7A1 1294 HP:0008404 Nail dystrophy OMIM:132000 COL7A1 1294 HP:0007383 Congenital localized absence of skin OMIM:132000 COL7A1 1294 HP:0001030 Fragile skin OMIM:132000 COL7A1 1294 HP:0002164 Nail dysplasia OMIM:276950 PTEN 5728 HP:0002564 Malformation of the heart and great vessels OMIM:276950 PTEN 5728 HP:0000238 Hydrocephalus OMIM:276950 PTEN 5728 HP:0002410 Aqueductal stenosis OMIM:276950 PTEN 5728 HP:0003468 Abnormality of the vertebrae OMIM:276950 PTEN 5728 HP:0000089 Renal hypoplasia OMIM:276950 PTEN 5728 HP:0002878 Respiratory failure OMIM:276950 PTEN 5728 HP:0009777 Absent thumb OMIM:276950 PTEN 5728 HP:0003826 Stillbirth OMIM:276950 PTEN 5728 HP:0002023 Anal atresia OMIM:615374 RAB28 9364 HP:0011003 Severe Myopia OMIM:615374 RAB28 9364 HP:0000548 Cone-rod dystrophy OMIM:615374 RAB28 9364 HP:0000007 Autosomal recessive inheritance OMIM:615374 RAB28 9364 HP:0000603 Central scotoma OMIM:615374 RAB28 9364 HP:0008001 Foveal hyperpigmentation OMIM:300607 ARHGEF9 23229 HP:0006887 Intellectual disability, progressive OMIM:300607 ARHGEF9 23229 HP:0003577 Congenital onset OMIM:300607 ARHGEF9 23229 HP:0001250 Seizures OMIM:300607 ARHGEF9 23229 HP:0010864 Intellectual disability, severe OMIM:300607 ARHGEF9 23229 HP:0200134 Epileptic encephalopathy OMIM:300607 ARHGEF9 23229 HP:0001276 Hypertonia OMIM:300607 ARHGEF9 23229 HP:0002267 Exaggerated startle response OMIM:300607 ARHGEF9 23229 HP:0001419 X-linked recessive inheritance OMIM:614464 CEP41 95681 HP:0010442 Polydactyly OMIM:614464 CEP41 95681 HP:0000062 Ambiguous genitalia OMIM:614464 CEP41 95681 HP:0002419 Molar tooth sign on MRI OMIM:614464 CEP41 95681 HP:0000488 Retinopathy OMIM:614464 CEP41 95681 HP:0001249 Intellectual disability OMIM:614464 CEP41 95681 HP:0001263 Global developmental delay OMIM:614464 CEP41 95681 HP:0001251 Ataxia OMIM:614464 CEP41 95681 HP:0000090 Nephronophthisis OMIM:614464 CEP41 95681 HP:0000657 Oculomotor apraxia OMIM:614464 CEP41 95681 HP:0000054 Micropenis OMIM:614464 CEP41 95681 HP:0000007 Autosomal recessive inheritance OMIM:614464 CEP41 95681 HP:0001252 Muscular hypotonia OMIM:234810 EIF2AK4 440275 HP:0012735 Cough OMIM:234810 EIF2AK4 440275 HP:0005954 Pulmonary capillary hemangiomatosis OMIM:234810 EIF2AK4 440275 HP:0002094 Dyspnea OMIM:234810 EIF2AK4 440275 HP:0000007 Autosomal recessive inheritance OMIM:234810 EIF2AK4 440275 HP:0002092 Pulmonary hypertension OMIM:234810 EIF2AK4 440275 HP:0006518 Pulmonary venoocclusive disease OMIM:261000 GIF 2694 HP:0003621 Juvenile onset OMIM:261000 GIF 2694 HP:0003474 Sensory impairment OMIM:261000 GIF 2694 HP:0200118 Malabsorption of Vitamin B12 OMIM:261000 GIF 2694 HP:0200143 Megaloblastic erythroid hyperplasia OMIM:261000 GIF 2694 HP:0005219 Absence of intrinsic factor OMIM:261000 GIF 2694 HP:0000007 Autosomal recessive inheritance OMIM:261000 GIF 2694 HP:0003401 Paresthesia OMIM:261000 GIF 2694 HP:0001889 Megaloblastic anemia OMIM:261000 GIF 2694 HP:0005518 Erythrocyte macrocytosis OMIM:261000 GIF 2694 HP:0002715 Abnormality of the immune system OMIM:261000 GIF 2694 HP:0002024 Malabsorption OMIM:615541 TTI2 80185 HP:0000752 Hyperactivity OMIM:615541 TTI2 80185 HP:0003593 Infantile onset OMIM:615541 TTI2 80185 HP:0002751 Kyphoscoliosis OMIM:615541 TTI2 80185 HP:0040080 Anteverted ears OMIM:615541 TTI2 80185 HP:0001249 Intellectual disability OMIM:615541 TTI2 80185 HP:0000733 Stereotypic behavior OMIM:615541 TTI2 80185 HP:0000718 Aggressive behavior OMIM:615541 TTI2 80185 HP:0000490 Deeply set eye OMIM:615541 TTI2 80185 HP:0000340 Sloping forehead OMIM:615541 TTI2 80185 HP:0000007 Autosomal recessive inheritance OMIM:615541 TTI2 80185 HP:0004322 Short stature OMIM:615541 TTI2 80185 HP:0000400 Macrotia OMIM:615541 TTI2 80185 HP:0000664 Synophrys OMIM:615541 TTI2 80185 HP:0000486 Strabismus OMIM:615541 TTI2 80185 HP:0000750 Delayed speech and language development OMIM:615541 TTI2 80185 HP:0001263 Global developmental delay OMIM:615541 TTI2 80185 HP:0000252 Microcephaly OMIM:615541 TTI2 80185 HP:0000448 Prominent nose OMIM:607641 DCTN1 1639 HP:0000006 Autosomal dominant inheritance OMIM:607641 DCTN1 1639 HP:0001605 Vocal cord paralysis OMIM:607641 DCTN1 1639 HP:0003693 Distal amyotrophy OMIM:607641 DCTN1 1639 HP:0010628 Facial palsy OMIM:607641 DCTN1 1639 HP:0009130 Hand muscle atrophy OMIM:607641 DCTN1 1639 HP:0002460 Distal muscle weakness OMIM:607641 DCTN1 1639 HP:0002366 Abnormal lower motor neuron morphology OMIM:607641 DCTN1 1639 HP:0007340 Lower limb muscle weakness OMIM:607641 DCTN1 1639 HP:0003677 Slow progression OMIM:607641 DCTN1 1639 HP:0030237 Hand muscle weakness OMIM:607641 DCTN1 1639 HP:0003581 Adult onset OMIM:254780 EPM2A 7957 HP:0000572 Visual loss OMIM:254780 EPM2A 7957 HP:0001336 Myoclonus OMIM:254780 EPM2A 7957 HP:0000992 Cutaneous photosensitivity OMIM:254780 EPM2A 7957 HP:0001399 Hepatic failure OMIM:254780 EPM2A 7957 HP:0001425 Heterogeneous OMIM:254780 EPM2A 7957 HP:0003678 Rapidly progressive OMIM:254780 EPM2A 7957 HP:0002367 Visual hallucinations OMIM:254780 EPM2A 7957 HP:0011165 Visual auras OMIM:254780 EPM2A 7957 HP:0002123 Generalized myoclonic seizures OMIM:254780 EPM2A 7957 HP:0000726 Dementia OMIM:254780 EPM2A 7957 HP:0002069 Generalized tonic-clonic seizures OMIM:254780 EPM2A 7957 HP:0007334 Bilateral convulsive seizures OMIM:254780 EPM2A 7957 HP:0002186 Apraxia OMIM:254780 EPM2A 7957 HP:0000709 Psychosis OMIM:254780 EPM2A 7957 HP:0001939 Abnormality of metabolism/homeostasis OMIM:254780 EPM2A 7957 HP:0000007 Autosomal recessive inheritance OMIM:254780 EPM2A 7957 HP:0002344 Progressive neurologic deterioration OMIM:254780 EPM2A 7957 HP:0001288 Gait disturbance OMIM:254780 EPM2A 7957 HP:0002121 Absence seizures OMIM:254780 NHLRC1 378884 HP:0000572 Visual loss OMIM:254780 NHLRC1 378884 HP:0001336 Myoclonus OMIM:254780 NHLRC1 378884 HP:0000992 Cutaneous photosensitivity OMIM:254780 NHLRC1 378884 HP:0001399 Hepatic failure OMIM:254780 NHLRC1 378884 HP:0001425 Heterogeneous OMIM:254780 NHLRC1 378884 HP:0003678 Rapidly progressive OMIM:254780 NHLRC1 378884 HP:0002367 Visual hallucinations OMIM:254780 NHLRC1 378884 HP:0011165 Visual auras OMIM:254780 NHLRC1 378884 HP:0002123 Generalized myoclonic seizures OMIM:254780 NHLRC1 378884 HP:0000726 Dementia OMIM:254780 NHLRC1 378884 HP:0002069 Generalized tonic-clonic seizures OMIM:254780 NHLRC1 378884 HP:0007334 Bilateral convulsive seizures OMIM:254780 NHLRC1 378884 HP:0002186 Apraxia OMIM:254780 NHLRC1 378884 HP:0000709 Psychosis OMIM:254780 NHLRC1 378884 HP:0001939 Abnormality of metabolism/homeostasis OMIM:254780 NHLRC1 378884 HP:0000007 Autosomal recessive inheritance OMIM:254780 NHLRC1 378884 HP:0002344 Progressive neurologic deterioration OMIM:254780 NHLRC1 378884 HP:0001288 Gait disturbance OMIM:254780 NHLRC1 378884 HP:0002121 Absence seizures OMIM:269160 SHH 6469 HP:0004374 Hemiplegia/hemiparesis OMIM:269160 SHH 6469 HP:0010636 Schizencephaly OMIM:269160 SHH 6469 HP:0002353 EEG abnormality OMIM:269160 SHH 6469 HP:0000486 Strabismus OMIM:269160 SHH 6469 HP:0001276 Hypertonia OMIM:269160 SHH 6469 HP:0100543 Cognitive impairment OMIM:269160 SHH 6469 HP:0001250 Seizures OMIM:269160 SHH 6469 HP:0002132 Porencephaly OMIM:269160 SHH 6469 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:269160 EMX2 2018 HP:0004374 Hemiplegia/hemiparesis OMIM:269160 EMX2 2018 HP:0010636 Schizencephaly OMIM:269160 EMX2 2018 HP:0002353 EEG abnormality OMIM:269160 EMX2 2018 HP:0000486 Strabismus OMIM:269160 EMX2 2018 HP:0001276 Hypertonia OMIM:269160 EMX2 2018 HP:0100543 Cognitive impairment OMIM:269160 EMX2 2018 HP:0001250 Seizures OMIM:269160 EMX2 2018 HP:0002132 Porencephaly OMIM:269160 EMX2 2018 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:269160 SIX3 6496 HP:0004374 Hemiplegia/hemiparesis OMIM:269160 SIX3 6496 HP:0010636 Schizencephaly OMIM:269160 SIX3 6496 HP:0002353 EEG abnormality OMIM:269160 SIX3 6496 HP:0000486 Strabismus OMIM:269160 SIX3 6496 HP:0001276 Hypertonia OMIM:269160 SIX3 6496 HP:0100543 Cognitive impairment OMIM:269160 SIX3 6496 HP:0001250 Seizures OMIM:269160 SIX3 6496 HP:0002132 Porencephaly OMIM:269160 SIX3 6496 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:615378 SCN2B 6327 HP:0012251 ST segment elevation OMIM:615378 SCN2B 6327 HP:0000006 Autosomal dominant inheritance OMIM:615378 SCN2B 6327 HP:0004757 Paroxysmal atrial fibrillation OMIM:615378 SCN2B 6327 HP:0012248 Prolonged PR interval OMIM:615378 SCN2B 6327 HP:0000822 Hypertension OMIM:616268 KAT6A 7994 HP:0001263 Global developmental delay OMIM:616268 KAT6A 7994 HP:0011968 Feeding difficulties OMIM:616268 KAT6A 7994 HP:0000369 Low-set ears OMIM:616268 KAT6A 7994 HP:0001629 Ventricular septal defect OMIM:616268 KAT6A 7994 HP:0000341 Narrow forehead OMIM:616268 KAT6A 7994 HP:0001643 Patent ductus arteriosus OMIM:616268 KAT6A 7994 HP:0000455 Broad nasal tip OMIM:616268 KAT6A 7994 HP:0000308 Microretrognathia OMIM:616268 KAT6A 7994 HP:0000219 Thin upper lip vermilion OMIM:616268 KAT6A 7994 HP:0000286 Epicanthus OMIM:616268 KAT6A 7994 HP:0001250 Seizures OMIM:616268 KAT6A 7994 HP:0000486 Strabismus OMIM:616268 KAT6A 7994 HP:0000252 Microcephaly OMIM:616268 KAT6A 7994 HP:0002098 Respiratory distress OMIM:616268 KAT6A 7994 HP:0001357 Plagiocephaly OMIM:616268 KAT6A 7994 HP:0000164 Abnormality of the teeth OMIM:616268 KAT6A 7994 HP:0100704 Cortical visual impairment OMIM:616268 KAT6A 7994 HP:0001252 Muscular hypotonia OMIM:616268 KAT6A 7994 HP:0000358 Posteriorly rotated ears OMIM:616268 KAT6A 7994 HP:0001363 Craniosynostosis OMIM:616268 KAT6A 7994 HP:0000508 Ptosis OMIM:616268 KAT6A 7994 HP:0001631 Defect in the atrial septum OMIM:616268 KAT6A 7994 HP:0002714 Downturned corners of mouth OMIM:616268 KAT6A 7994 HP:0000426 Prominent nasal bridge OMIM:601493 LDB3 11155 HP:0001645 Sudden cardiac death OMIM:601493 LDB3 11155 HP:0001712 Left ventricular hypertrophy OMIM:601493 LDB3 11155 HP:0000006 Autosomal dominant inheritance OMIM:601493 LDB3 11155 HP:0001635 Congestive heart failure OMIM:601493 LDB3 11155 HP:0004308 Ventricular arrhythmia OMIM:601493 LDB3 11155 HP:0001644 Dilated cardiomyopathy OMIM:613849 SP7 121340 HP:0040160 Generalized osteoporosis OMIM:613849 SP7 121340 HP:0011800 Midface retrusion OMIM:613849 SP7 121340 HP:0002564 Malformation of the heart and great vessels OMIM:613849 SP7 121340 HP:0000272 Malar flattening OMIM:613849 SP7 121340 HP:0000007 Autosomal recessive inheritance OMIM:613849 SP7 121340 HP:0000324 Facial asymmetry OMIM:613849 SP7 121340 HP:0000684 Delayed eruption of teeth OMIM:613849 SP7 121340 HP:0000160 Narrow mouth OMIM:613849 SP7 121340 HP:0000336 Prominent supraorbital ridges OMIM:613849 SP7 121340 HP:0005280 Depressed nasal bridge OMIM:613849 SP7 121340 HP:0001270 Motor delay OMIM:613849 SP7 121340 HP:0011220 Prominent forehead OMIM:613849 SP7 121340 HP:0004322 Short stature OMIM:613849 SP7 121340 HP:0000347 Micrognathia OMIM:613849 SP7 121340 HP:0000768 Pectus carinatum OMIM:613849 SP7 121340 HP:0002645 Wormian bones OMIM:613849 SP7 121340 HP:0002650 Scoliosis OMIM:613849 SP7 121340 HP:0000218 High palate OMIM:615911 CHCHD10 400916 HP:0001265 Hyporeflexia OMIM:615911 CHCHD10 400916 HP:0001260 Dysarthria OMIM:615911 CHCHD10 400916 HP:0007354 Amyotrophic lateral sclerosis OMIM:615911 CHCHD10 400916 HP:0000407 Sensorineural hearing impairment OMIM:615911 CHCHD10 400916 HP:0001283 Bulbar palsy OMIM:615911 CHCHD10 400916 HP:0002145 Frontotemporal dementia OMIM:615911 CHCHD10 400916 HP:0002015 Dysphagia OMIM:615911 CHCHD10 400916 HP:0003487 Babinski sign OMIM:615911 CHCHD10 400916 HP:0001251 Ataxia OMIM:615911 CHCHD10 400916 HP:0001300 Parkinsonism OMIM:615911 CHCHD10 400916 HP:0002120 Cerebral cortical atrophy OMIM:615911 CHCHD10 400916 HP:0000727 Frontal lobe dementia OMIM:615911 CHCHD10 400916 HP:0000508 Ptosis OMIM:615911 CHCHD10 400916 HP:0003701 Proximal muscle weakness OMIM:615911 CHCHD10 400916 HP:0001284 Areflexia OMIM:610954 TCF4 6925 HP:0000252 Microcephaly OMIM:610954 TCF4 6925 HP:0000954 Single transverse palmar crease OMIM:610954 TCF4 6925 HP:0000154 Wide mouth OMIM:610954 TCF4 6925 HP:0002066 Gait ataxia OMIM:610954 TCF4 6925 HP:0004879 Intermittent hyperventilation OMIM:610954 TCF4 6925 HP:0000280 Coarse facial features OMIM:610954 TCF4 6925 HP:0002079 Hypoplasia of the corpus callosum OMIM:610954 TCF4 6925 HP:0000391 Thickened helices OMIM:610954 TCF4 6925 HP:0000341 Narrow forehead OMIM:610954 TCF4 6925 HP:0000582 Upslanted palpebral fissure OMIM:610954 TCF4 6925 HP:0001182 Tapered finger OMIM:610954 TCF4 6925 HP:0000322 Short philtrum OMIM:610954 TCF4 6925 HP:0000006 Autosomal dominant inheritance OMIM:610954 TCF4 6925 HP:0001344 Absent speech OMIM:610954 TCF4 6925 HP:0001252 Muscular hypotonia OMIM:610954 TCF4 6925 HP:0010864 Intellectual disability, severe OMIM:610954 TCF4 6925 HP:0000687 Widely spaced teeth OMIM:610954 TCF4 6925 HP:0000483 Astigmatism OMIM:610954 TCF4 6925 HP:0001786 Narrow foot OMIM:610954 TCF4 6925 HP:0000463 Anteverted nares OMIM:610954 TCF4 6925 HP:0000174 Abnormality of the palate OMIM:610954 TCF4 6925 HP:0000545 Myopia OMIM:610954 TCF4 6925 HP:0001250 Seizures OMIM:610954 TCF4 6925 HP:0000194 Open mouth OMIM:610954 TCF4 6925 HP:0001298 Encephalopathy OMIM:610954 TCF4 6925 HP:0002311 Incoordination OMIM:610954 TCF4 6925 HP:0000028 Cryptorchidism OMIM:610954 TCF4 6925 HP:0000431 Wide nasal bridge OMIM:610954 TCF4 6925 HP:0001053 Hypopigmented skin patches OMIM:610954 TCF4 6925 HP:0000470 Short neck OMIM:610954 TCF4 6925 HP:0001270 Motor delay OMIM:610954 TCF4 6925 HP:0000378 Cupped ear OMIM:610954 TCF4 6925 HP:0002020 Gastroesophageal reflux OMIM:610954 TCF4 6925 HP:0008736 Hypoplasia of penis OMIM:610954 TCF4 6925 HP:0000490 Deeply set eye OMIM:610954 TCF4 6925 HP:0002019 Constipation OMIM:610954 TCF4 6925 HP:0000293 Full cheeks OMIM:610954 TCF4 6925 HP:0000179 Thick lower lip vermilion OMIM:610954 TCF4 6925 HP:0002167 Neurological speech impairment OMIM:610954 TCF4 6925 HP:0001217 Clubbing OMIM:610954 TCF4 6925 HP:0000164 Abnormality of the teeth OMIM:610954 TCF4 6925 HP:0000054 Micropenis OMIM:610954 TCF4 6925 HP:0000718 Aggressive behavior OMIM:610954 TCF4 6925 HP:0100543 Cognitive impairment OMIM:610954 TCF4 6925 HP:0030084 Clinodactyly OMIM:610954 TCF4 6925 HP:0006887 Intellectual disability, progressive OMIM:610954 TCF4 6925 HP:0002459 Dysautonomia OMIM:610954 TCF4 6925 HP:0001763 Pes planus OMIM:610954 TCF4 6925 HP:0000486 Strabismus OMIM:610954 TCF4 6925 HP:0002104 Apnea OMIM:611718 EGF 1950 HP:0002917 Hypomagnesemia OMIM:611718 EGF 1950 HP:0001263 Global developmental delay OMIM:611718 EGF 1950 HP:0002342 Intellectual disability, moderate OMIM:611718 EGF 1950 HP:0001250 Seizures OMIM:611718 EGF 1950 HP:0000007 Autosomal recessive inheritance OMIM:616216 ETV6 2120 HP:0001903 Anemia OMIM:616216 ETV6 2120 HP:0001875 Neutropenia OMIM:616216 ETV6 2120 HP:0000978 Bruising susceptibility OMIM:616216 ETV6 2120 HP:0000421 Epistaxis OMIM:616216 ETV6 2120 HP:0000967 Petechiae OMIM:616216 ETV6 2120 HP:0001873 Thrombocytopenia OMIM:610019 FYCO1 79443 HP:0000007 Autosomal recessive inheritance OMIM:610019 FYCO1 79443 HP:0000518 Cataract OMIM:301310 ABCB7 22 HP:0002470 Nonprogressive cerebellar ataxia OMIM:301310 ABCB7 22 HP:0001924 Sideroblastic anemia OMIM:301310 ABCB7 22 HP:0004840 Hypochromic microcytic anemia OMIM:301310 ABCB7 22 HP:0001260 Dysarthria OMIM:301310 ABCB7 22 HP:0001939 Abnormality of metabolism/homeostasis OMIM:301310 ABCB7 22 HP:0001252 Muscular hypotonia OMIM:301310 ABCB7 22 HP:0000639 Nystagmus OMIM:301310 ABCB7 22 HP:0001347 Hyperreflexia OMIM:301310 ABCB7 22 HP:0002169 Clonus OMIM:301310 ABCB7 22 HP:0001310 Dysmetria OMIM:301310 ABCB7 22 HP:0002080 Intention tremor OMIM:301310 ABCB7 22 HP:0002167 Neurological speech impairment OMIM:301310 ABCB7 22 HP:0003621 Juvenile onset OMIM:301310 ABCB7 22 HP:0002650 Scoliosis OMIM:301310 ABCB7 22 HP:0002075 Dysdiadochokinesis OMIM:301310 ABCB7 22 HP:0000486 Strabismus OMIM:301310 ABCB7 22 HP:0100022 Abnormality of movement OMIM:301310 ABCB7 22 HP:0003487 Babinski sign OMIM:301310 ABCB7 22 HP:0001511 Intrauterine growth retardation OMIM:301310 ABCB7 22 HP:0100543 Cognitive impairment OMIM:301310 ABCB7 22 HP:0002311 Incoordination OMIM:301310 ABCB7 22 HP:0001419 X-linked recessive inheritance OMIM:109150 ATXN3 4287 HP:0001257 Spasticity OMIM:109150 ATXN3 4287 HP:0000651 Diplopia OMIM:109150 ATXN3 4287 HP:0001272 Cerebellar atrophy OMIM:109150 ATXN3 4287 HP:0001300 Parkinsonism OMIM:109150 ATXN3 4287 HP:0002070 Limb ataxia OMIM:109150 ATXN3 4287 HP:0002078 Truncal ataxia OMIM:109150 ATXN3 4287 HP:0000544 External ophthalmoplegia OMIM:109150 ATXN3 4287 HP:0003676 Progressive disorder OMIM:109150 ATXN3 4287 HP:0003693 Distal amyotrophy OMIM:109150 ATXN3 4287 HP:0001251 Ataxia OMIM:109150 ATXN3 4287 HP:0002015 Dysphagia OMIM:109150 ATXN3 4287 HP:0002063 Rigidity OMIM:109150 ATXN3 4287 HP:0002495 Impaired vibratory sensation OMIM:109150 ATXN3 4287 HP:0001151 Impaired horizontal smooth pursuit OMIM:109150 ATXN3 4287 HP:0002380 Fasciculations OMIM:109150 ATXN3 4287 HP:0002073 Progressive cerebellar ataxia OMIM:109150 ATXN3 4287 HP:0012532 Chronic pain OMIM:109150 ATXN3 4287 HP:0001332 Dystonia OMIM:109150 ATXN3 4287 HP:0000520 Proptosis OMIM:109150 ATXN3 4287 HP:0002839 Urinary bladder sphincter dysfunction OMIM:109150 ATXN3 4287 HP:0000006 Autosomal dominant inheritance OMIM:109150 ATXN3 4287 HP:0002172 Postural instability OMIM:109150 ATXN3 4287 HP:0002459 Dysautonomia OMIM:109150 ATXN3 4287 HP:0003394 Muscle cramps OMIM:109150 ATXN3 4287 HP:0000726 Dementia OMIM:109150 ATXN3 4287 HP:0002198 Dilated fourth ventricle OMIM:109150 ATXN3 4287 HP:0002067 Bradykinesia OMIM:109150 ATXN3 4287 HP:0000641 Dysmetric saccades OMIM:109150 ATXN3 4287 HP:0000623 Supranuclear ophthalmoplegia OMIM:109150 ATXN3 4287 HP:0007089 Facial-lingual fasciculations OMIM:109150 ATXN3 4287 HP:0003438 Absent Achilles reflex OMIM:109150 ATXN3 4287 HP:0000640 Gaze-evoked nystagmus OMIM:109150 ATXN3 4287 HP:0003743 Genetic anticipation OMIM:109150 ATXN3 4287 HP:0001260 Dysarthria OMIM:109150 ATXN3 4287 HP:0002171 Gliosis OMIM:109150 ATXN3 4287 HP:0003487 Babinski sign OMIM:109150 ATXN3 4287 HP:0002503 Spinocerebellar tract degeneration OMIM:109150 ATXN3 4287 HP:0000508 Ptosis OMIM:614739 SERAC1 84947 HP:0011968 Feeding difficulties OMIM:614739 SERAC1 84947 HP:0001298 Encephalopathy OMIM:614739 SERAC1 84947 HP:0003535 3-Methylglutaconic aciduria OMIM:614739 SERAC1 84947 HP:0002151 Increased serum lactate OMIM:614739 SERAC1 84947 HP:0001257 Spasticity OMIM:614739 SERAC1 84947 HP:0003128 Lactic acidosis OMIM:614739 SERAC1 84947 HP:0002977 Aplasia/Hypoplasia involving the central nervous system OMIM:614739 SERAC1 84947 HP:0000407 Sensorineural hearing impairment OMIM:614739 SERAC1 84947 HP:0001250 Seizures OMIM:614739 SERAC1 84947 HP:0001252 Muscular hypotonia OMIM:614739 SERAC1 84947 HP:0012444 Brain atrophy OMIM:614739 SERAC1 84947 HP:0002071 Abnormality of extrapyramidal motor function OMIM:614739 SERAC1 84947 HP:0001263 Global developmental delay OMIM:614739 SERAC1 84947 HP:0001943 Hypoglycemia OMIM:614739 SERAC1 84947 HP:0001332 Dystonia OMIM:614739 SERAC1 84947 HP:0001987 Hyperammonemia OMIM:614739 SERAC1 84947 HP:0001508 Failure to thrive OMIM:614739 SERAC1 84947 HP:0002719 Recurrent infections OMIM:614739 SERAC1 84947 HP:0002376 Developmental regression OMIM:614739 SERAC1 84947 HP:0001249 Intellectual disability OMIM:614739 SERAC1 84947 HP:0001272 Cerebellar atrophy OMIM:614739 SERAC1 84947 HP:0000007 Autosomal recessive inheritance OMIM:615816 PGM3 5238 HP:0000407 Sensorineural hearing impairment OMIM:615816 PGM3 5238 HP:0000793 Membranoproliferative glomerulonephritis OMIM:615816 PGM3 5238 HP:0001878 Hemolytic anemia OMIM:615816 PGM3 5238 HP:0002650 Scoliosis OMIM:615816 PGM3 5238 HP:0003193 Allergic rhinitis OMIM:615816 PGM3 5238 HP:0002721 Immunodeficiency OMIM:615816 PGM3 5238 HP:0001263 Global developmental delay OMIM:615816 PGM3 5238 HP:0001249 Intellectual disability OMIM:615816 PGM3 5238 HP:0000218 High palate OMIM:615816 PGM3 5238 HP:0001888 Lymphopenia OMIM:615816 PGM3 5238 HP:0001875 Neutropenia OMIM:615816 PGM3 5238 HP:0003474 Sensory impairment OMIM:615816 PGM3 5238 HP:0002205 Recurrent respiratory infections OMIM:615816 PGM3 5238 HP:0000964 Eczema OMIM:615816 PGM3 5238 HP:0001252 Muscular hypotonia OMIM:615816 PGM3 5238 HP:0000405 Conductive hearing impairment OMIM:615816 PGM3 5238 HP:0200029 Vasculitis in the skin OMIM:615816 PGM3 5238 HP:0002099 Asthma OMIM:615816 PGM3 5238 HP:0100543 Cognitive impairment OMIM:615816 PGM3 5238 HP:0002110 Bronchiectasis OMIM:615816 PGM3 5238 HP:0040148 Cortical myoclonus OMIM:615816 PGM3 5238 HP:0001251 Ataxia OMIM:615816 PGM3 5238 HP:0001260 Dysarthria OMIM:132900 MYH11 4629 HP:0001297 Stroke OMIM:132900 MYH11 4629 HP:0012180 Cystic medial necrosis OMIM:132900 MYH11 4629 HP:0001647 Bicuspid aortic valve OMIM:132900 MYH11 4629 HP:0001659 Aortic regurgitation OMIM:132900 MYH11 4629 HP:0001643 Patent ductus arteriosus OMIM:132900 MYH11 4629 HP:0000006 Autosomal dominant inheritance OMIM:132900 MYH11 4629 HP:0001677 Coronary artery disease OMIM:132900 MYH11 4629 HP:0002622 Dissecting aortic aneurysm OMIM:132900 MYH11 4629 HP:0008034 Abnormal iris pigmentation OMIM:613391 PTPRQ 374462 HP:0001751 Vestibular dysfunction OMIM:613391 PTPRQ 374462 HP:0001270 Motor delay OMIM:613391 PTPRQ 374462 HP:0000365 Hearing impairment OMIM:613391 PTPRQ 374462 HP:0000007 Autosomal recessive inheritance OMIM:613391 PTPRQ 374462 HP:0003593 Infantile onset OMIM:118200 MPZ 4359 HP:0001178 Ulnar claw OMIM:118200 MPZ 4359 HP:0009027 Foot dorsiflexor weakness OMIM:118200 MPZ 4359 HP:0001265 Hyporeflexia OMIM:118200 MPZ 4359 HP:0001425 Heterogeneous OMIM:118200 MPZ 4359 HP:0003376 Steppage gait OMIM:118200 MPZ 4359 HP:0002460 Distal muscle weakness OMIM:118200 MPZ 4359 HP:0003587 Insidious onset OMIM:118200 MPZ 4359 HP:0003449 Cold-induced muscle cramps OMIM:118200 MPZ 4359 HP:0003828 Variable expressivity OMIM:118200 MPZ 4359 HP:0011096 Peripheral demyelination OMIM:118200 MPZ 4359 HP:0012074 Tonic pupil OMIM:118200 MPZ 4359 HP:0004336 Myelin outfoldings OMIM:118200 MPZ 4359 HP:0003677 Slow progression OMIM:118200 MPZ 4359 HP:0001761 Pes cavus OMIM:118200 MPZ 4359 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:118200 MPZ 4359 HP:0003383 Onion bulb formation OMIM:118200 MPZ 4359 HP:0003621 Juvenile onset OMIM:118200 MPZ 4359 HP:0001284 Areflexia OMIM:118200 MPZ 4359 HP:0003431 Decreased motor nerve conduction velocity OMIM:118200 MPZ 4359 HP:0002936 Distal sensory impairment OMIM:118200 MPZ 4359 HP:0002751 Kyphoscoliosis OMIM:118200 MPZ 4359 HP:0003382 Hypertrophic nerve changes OMIM:118200 MPZ 4359 HP:0003693 Distal amyotrophy OMIM:118200 MPZ 4359 HP:0000006 Autosomal dominant inheritance OMIM:118200 MPZ 4359 HP:0001765 Hammertoe OMIM:604625 PAX9 5083 HP:0000677 Oligodontia OMIM:604625 PAX9 5083 HP:0000006 Autosomal dominant inheritance OMIM:274600 SLC26A4 5172 HP:0100543 Cognitive impairment OMIM:274600 SLC26A4 5172 HP:0000853 Goiter OMIM:274600 SLC26A4 5172 HP:0001249 Intellectual disability OMIM:274600 SLC26A4 5172 HP:0002890 Thyroid carcinoma OMIM:274600 SLC26A4 5172 HP:0000821 Hypothyroidism OMIM:274600 SLC26A4 5172 HP:0100031 Neoplasm of the thyroid gland OMIM:274600 SLC26A4 5172 HP:0008527 Congenital sensorineural hearing impairment OMIM:274600 SLC26A4 5172 HP:0002777 Tracheal stenosis OMIM:274600 SLC26A4 5172 HP:0000407 Sensorineural hearing impairment OMIM:274600 SLC26A4 5172 HP:0008223 Compensated hypothyroidism OMIM:274600 SLC26A4 5172 HP:0002167 Neurological speech impairment OMIM:274600 SLC26A4 5172 HP:0002321 Vertigo OMIM:274600 SLC26A4 5172 HP:0000843 Hyperparathyroidism OMIM:274600 SLC26A4 5172 HP:0002311 Incoordination OMIM:274600 SLC26A4 5172 HP:0008554 Cochlear malformation OMIM:274600 SLC26A4 5172 HP:0000112 Nephropathy OMIM:274600 SLC26A4 5172 HP:0001751 Vestibular dysfunction OMIM:274600 SLC26A4 5172 HP:0002093 Respiratory insufficiency OMIM:274600 SLC26A4 5172 HP:0000007 Autosomal recessive inheritance OMIM:274600 SLC26A4 5172 HP:0001939 Abnormality of metabolism/homeostasis OMIM:256300 NPHS1 4868 HP:0003073 Hypoalbuminemia OMIM:256300 NPHS1 4868 HP:0002021 Pyloric stenosis OMIM:256300 NPHS1 4868 HP:0000100 Nephrotic syndrome OMIM:256300 NPHS1 4868 HP:0003678 Rapidly progressive OMIM:256300 NPHS1 4868 HP:0003075 Hypoproteinemia OMIM:256300 NPHS1 4868 HP:0000969 Edema OMIM:256300 NPHS1 4868 HP:0001510 Growth delay OMIM:256300 NPHS1 4868 HP:0000092 Tubular atrophy OMIM:256300 NPHS1 4868 HP:0000083 Renal insufficiency OMIM:256300 NPHS1 4868 HP:0000093 Proteinuria OMIM:256300 NPHS1 4868 HP:0001967 Diffuse mesangial sclerosis OMIM:256300 NPHS1 4868 HP:0002643 Neonatal respiratory distress OMIM:256300 NPHS1 4868 HP:0003077 Hyperlipidemia OMIM:256300 NPHS1 4868 HP:0000003 Multicystic kidney dysplasia OMIM:256300 NPHS1 4868 HP:0003270 Abdominal distention OMIM:256300 NPHS1 4868 HP:0002020 Gastroesophageal reflux OMIM:256300 NPHS1 4868 HP:0000821 Hypothyroidism OMIM:256300 NPHS1 4868 HP:0001518 Small for gestational age OMIM:256300 NPHS1 4868 HP:0008677 Congenital nephrotic syndrome OMIM:256300 NPHS1 4868 HP:0000007 Autosomal recessive inheritance OMIM:256300 NPHS1 4868 HP:0003577 Congenital onset OMIM:256300 NPHS1 4868 HP:0002719 Recurrent infections OMIM:615636 CSPP1 79848 HP:0002104 Apnea OMIM:615636 CSPP1 79848 HP:0007291 Posterior fossa cyst OMIM:615636 CSPP1 79848 HP:0002094 Dyspnea OMIM:615636 CSPP1 79848 HP:0001252 Muscular hypotonia OMIM:615636 CSPP1 79848 HP:0000107 Renal cyst OMIM:615636 CSPP1 79848 HP:0001249 Intellectual disability OMIM:615636 CSPP1 79848 HP:0004719 Hyperechogenic kidneys OMIM:615636 CSPP1 79848 HP:0000486 Strabismus OMIM:615636 CSPP1 79848 HP:0009932 Single naris OMIM:615636 CSPP1 79848 HP:0002079 Hypoplasia of the corpus callosum OMIM:615636 CSPP1 79848 HP:0001591 Bell-shaped thorax OMIM:615636 CSPP1 79848 HP:0011933 Elongated superior cerebellar peduncle OMIM:615636 CSPP1 79848 HP:0001263 Global developmental delay OMIM:615636 CSPP1 79848 HP:0003828 Variable expressivity OMIM:615636 CSPP1 79848 HP:0000528 Anophthalmia OMIM:615636 CSPP1 79848 HP:0002089 Pulmonary hypoplasia OMIM:615636 CSPP1 79848 HP:0000508 Ptosis OMIM:615636 CSPP1 79848 HP:0000657 Oculomotor apraxia OMIM:615636 CSPP1 79848 HP:0001251 Ataxia OMIM:615636 CSPP1 79848 HP:0002365 Hypoplasia of the brainstem OMIM:615636 CSPP1 79848 HP:0000407 Sensorineural hearing impairment OMIM:615636 CSPP1 79848 HP:0002085 Occipital encephalocele OMIM:615636 CSPP1 79848 HP:0000488 Retinopathy OMIM:615636 CSPP1 79848 HP:0000007 Autosomal recessive inheritance OMIM:271700 COL2A1 1280 HP:0000768 Pectus carinatum OMIM:271700 COL2A1 1280 HP:0003312 Abnormal form of the vertebral bodies OMIM:271700 COL2A1 1280 HP:0010454 Acetabular spurs OMIM:271700 COL2A1 1280 HP:0003370 Flat capital femoral epiphysis OMIM:271700 COL2A1 1280 HP:0009882 Short distal phalanx of finger OMIM:271700 COL2A1 1280 HP:0010743 Short metatarsal OMIM:271700 COL2A1 1280 HP:0011304 Broad thumb OMIM:271700 COL2A1 1280 HP:0002808 Kyphosis OMIM:271700 COL2A1 1280 HP:0000339 Pugilistic facies OMIM:271700 COL2A1 1280 HP:0001376 Limitation of joint mobility OMIM:271700 COL2A1 1280 HP:0005068 Absent styloid process of ulna OMIM:271700 COL2A1 1280 HP:0010230 Cone-shaped epiphyses of the phalanges of the hand OMIM:271700 COL2A1 1280 HP:0001377 Limited elbow extension OMIM:271700 COL2A1 1280 HP:0001169 Broad palm OMIM:271700 COL2A1 1280 HP:0001552 Barrel-shaped chest OMIM:271700 COL2A1 1280 HP:0011800 Midface retrusion OMIM:271700 COL2A1 1280 HP:0000407 Sensorineural hearing impairment OMIM:271700 COL2A1 1280 HP:0004180 Short distal phalanx of the 3rd finger OMIM:271700 COL2A1 1280 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:271700 COL2A1 1280 HP:0001831 Short toe OMIM:271700 COL2A1 1280 HP:0006144 Shortening of all proximal phalanges of the fingers OMIM:271700 COL2A1 1280 HP:0000944 Abnormality of the metaphyses OMIM:271700 COL2A1 1280 HP:0001163 Abnormality of the metacarpal bones OMIM:271700 COL2A1 1280 HP:0001773 Short foot OMIM:271700 COL2A1 1280 HP:0100734 Abnormality of vertebral epiphysis morphology OMIM:271700 COL2A1 1280 HP:0000926 Platyspondyly OMIM:271700 COL2A1 1280 HP:0009778 Short thumb OMIM:271700 COL2A1 1280 HP:0001156 Brachydactyly syndrome OMIM:271700 COL2A1 1280 HP:0000272 Malar flattening OMIM:271700 COL2A1 1280 HP:0004322 Short stature OMIM:271700 COL2A1 1280 HP:0002983 Micromelia OMIM:271700 COL2A1 1280 HP:0010049 Short metacarpal OMIM:271700 COL2A1 1280 HP:0004227 Short distal phalanx of the 5th finger OMIM:271700 COL2A1 1280 HP:0000006 Autosomal dominant inheritance OMIM:271700 COL2A1 1280 HP:0002997 Abnormality of the ulna OMIM:271700 COL2A1 1280 HP:0010579 Cone-shaped epiphysis OMIM:271700 COL2A1 1280 HP:0009566 Short distal phalanx of the 2nd finger OMIM:271700 COL2A1 1280 HP:0003180 Flat acetabular roof OMIM:271700 COL2A1 1280 HP:0003022 Hypoplasia of the ulna OMIM:271700 COL2A1 1280 HP:0009290 Short distal phalanx of the 4th finger OMIM:271700 COL2A1 1280 HP:0006110 Shortening of all middle phalanges of the fingers OMIM:271700 COL2A1 1280 HP:0002655 Spondyloepiphyseal dysplasia OMIM:614082 FANCG 2189 HP:0001875 Neutropenia OMIM:614082 FANCG 2189 HP:0001172 Abnormality of the thumb OMIM:614082 FANCG 2189 HP:0001903 Anemia OMIM:614082 FANCG 2189 HP:0007565 Multiple cafe-au-lait spots OMIM:614082 FANCG 2189 HP:0001909 Leukemia OMIM:614082 FANCG 2189 HP:0000252 Microcephaly OMIM:614082 FANCG 2189 HP:0001510 Growth delay OMIM:614082 FANCG 2189 HP:0002863 Myelodysplasia OMIM:614082 FANCG 2189 HP:0001873 Thrombocytopenia OMIM:614082 FANCG 2189 HP:0000568 Microphthalmos OMIM:614082 FANCG 2189 HP:0003220 Abnormality of chromosome stability OMIM:192430 TBX1 6899 HP:0001611 Nasal speech OMIM:192430 TBX1 6899 HP:0002901 Hypocalcemia OMIM:192430 TBX1 6899 HP:0001155 Abnormality of the hand OMIM:192430 TBX1 6899 HP:0000252 Microcephaly OMIM:192430 TBX1 6899 HP:0000414 Bulbous nose OMIM:192430 TBX1 6899 HP:0004322 Short stature OMIM:192430 TBX1 6899 HP:0001636 Tetralogy of Fallot OMIM:192430 TBX1 6899 HP:0000581 Blepharophimosis OMIM:192430 TBX1 6899 HP:0000627 Posterior embryotoxon OMIM:192430 TBX1 6899 HP:0000598 Abnormality of the ear OMIM:192430 TBX1 6899 HP:0001537 Umbilical hernia OMIM:192430 TBX1 6899 HP:0001249 Intellectual disability OMIM:192430 TBX1 6899 HP:0000194 Open mouth OMIM:192430 TBX1 6899 HP:0005435 Impaired T cell function OMIM:192430 TBX1 6899 HP:0000220 Velopharyngeal insufficiency OMIM:192430 TBX1 6899 HP:0000720 Mood swings OMIM:192430 TBX1 6899 HP:0002719 Recurrent infections OMIM:192430 TBX1 6899 HP:0000718 Aggressive behavior OMIM:192430 TBX1 6899 HP:0000201 Pierre-Robin sequence OMIM:192430 TBX1 6899 HP:0012841 Retinal vascular tortuosity OMIM:192430 TBX1 6899 HP:0011999 Paranoia OMIM:192430 TBX1 6899 HP:0006549 Unilateral primary pulmonary dysgenesis OMIM:192430 TBX1 6899 HP:0000278 Retrognathia OMIM:192430 TBX1 6899 HP:0000818 Abnormality of the endocrine system OMIM:192430 TBX1 6899 HP:0001629 Ventricular septal defect OMIM:192430 TBX1 6899 HP:0000023 Inguinal hernia OMIM:192430 TBX1 6899 HP:0000006 Autosomal dominant inheritance OMIM:192430 TBX1 6899 HP:0000430 Underdeveloped nasal alae OMIM:192430 TBX1 6899 HP:0001328 Specific learning disability OMIM:192430 TBX1 6899 HP:0001252 Muscular hypotonia OMIM:192430 TBX1 6899 HP:0002627 Right aortic arch with mirror image branching OMIM:192430 TBX1 6899 HP:0000175 Cleft palate ORPHANET:510 HPRT1 3251 HP:0100543 Cognitive impairment ORPHANET:510 HPRT1 3251 HP:0100022 Abnormality of movement ORPHANET:510 HPRT1 3251 HP:0001903 Anemia ORPHANET:510 HPRT1 3251 HP:0000083 Renal insufficiency ORPHANET:510 HPRT1 3251 HP:0002149 Hyperuricemia ORPHANET:510 HPRT1 3251 HP:0004374 Hemiplegia/hemiparesis ORPHANET:510 HPRT1 3251 HP:0001276 Hypertonia ORPHANET:510 HPRT1 3251 HP:0000708 Behavioral abnormality ORPHANET:510 HPRT1 3251 HP:0001369 Arthritis ORPHANET:510 HPRT1 3251 HP:0000790 Hematuria OMIM:603387 PIK3R2 5296 HP:0001302 Pachygyria OMIM:603387 PIK3R2 5296 HP:0002943 Thoracic scoliosis OMIM:603387 PIK3R2 5296 HP:0003202 Skeletal muscle atrophy OMIM:603387 PIK3R2 5296 HP:0000006 Autosomal dominant inheritance OMIM:603387 PIK3R2 5296 HP:0000256 Macrocephaly OMIM:603387 PIK3R2 5296 HP:0001653 Mitral regurgitation OMIM:603387 PIK3R2 5296 HP:0002079 Hypoplasia of the corpus callosum OMIM:603387 PIK3R2 5296 HP:0001629 Ventricular septal defect OMIM:603387 PIK3R2 5296 HP:0000508 Ptosis OMIM:603387 PIK3R2 5296 HP:0001631 Defect in the atrial septum OMIM:603387 PIK3R2 5296 HP:0001263 Global developmental delay OMIM:603387 PIK3R2 5296 HP:0007074 Thick corpus callosum OMIM:603387 PIK3R2 5296 HP:0002187 Intellectual disability, profound OMIM:603387 PIK3R2 5296 HP:0001355 Megalencephaly OMIM:603387 PIK3R2 5296 HP:0000637 Long palpebral fissure OMIM:603387 PIK3R2 5296 HP:0002126 Polymicrogyria OMIM:603387 PIK3R2 5296 HP:0008936 Muscular hypotonia of the trunk OMIM:603387 PIK3R2 5296 HP:0002808 Kyphosis OMIM:603387 PIK3R2 5296 HP:0006380 Knee flexion contracture OMIM:603387 PIK3R2 5296 HP:0100259 Postaxial polydactyly OMIM:603387 PIK3R2 5296 HP:0002007 Frontal bossing OMIM:603387 PIK3R2 5296 HP:0001090 Large eyes OMIM:603387 PIK3R2 5296 HP:0010775 Vascular ring OMIM:603387 PIK3R2 5296 HP:0001250 Seizures OMIM:603387 PIK3R2 5296 HP:0000618 Blindness OMIM:603387 PIK3R2 5296 HP:0000238 Hydrocephalus OMIM:614840 TACR3 6870 HP:0000028 Cryptorchidism OMIM:614840 TACR3 6870 HP:0008734 Decreased testicular size OMIM:614840 TACR3 6870 HP:0000044 Hypogonadotrophic hypogonadism OMIM:614840 TACR3 6870 HP:0008197 Absence of pubertal development OMIM:614840 TACR3 6870 HP:0000054 Micropenis OMIM:614840 TACR3 6870 HP:0000007 Autosomal recessive inheritance OMIM:614840 TACR3 6870 HP:0000786 Primary amenorrhea OMIM:614840 TACR3 6870 HP:0030260 Microphallus OMIM:310465 POLA1 5422 HP:0003220 Abnormality of chromosome stability OMIM:310465 POLA1 5422 HP:0000485 Megalocornea OMIM:310465 POLA1 5422 HP:0100627 Displacement of the external urethral meatus OMIM:310465 POLA1 5422 HP:0000505 Visual impairment OMIM:310465 POLA1 5422 HP:0100543 Cognitive impairment OMIM:310465 POLA1 5422 HP:0002488 Acute leukemia OMIM:310465 POLA1 5422 HP:0000365 Hearing impairment OMIM:310465 POLA1 5422 HP:0001257 Spasticity OMIM:310465 POLA1 5422 HP:0000047 Hypospadias OMIM:310465 POLA1 5422 HP:0000028 Cryptorchidism OMIM:310465 POLA1 5422 HP:0000407 Sensorineural hearing impairment OMIM:310465 POLA1 5422 HP:0001249 Intellectual disability OMIM:310465 POLA1 5422 HP:0001417 X-linked inheritance OMIM:310465 POLA1 5422 HP:0001276 Hypertonia OMIM:310465 POLA1 5422 HP:0002664 Neoplasm ORPHANET:33110 LRRC8A 56262 HP:0000246 Sinusitis ORPHANET:33110 LRRC8A 56262 HP:0001287 Meningitis ORPHANET:33110 LRRC8A 56262 HP:0200042 Skin ulcer ORPHANET:33110 LRRC8A 56262 HP:0100533 Inflammatory abnormality of the eye ORPHANET:33110 LRRC8A 56262 HP:0100806 Sepsis ORPHANET:33110 LRRC8A 56262 HP:0002754 Osteomyelitis ORPHANET:33110 LRRC8A 56262 HP:0000388 Otitis media ORPHANET:33110 LRRC8A 56262 HP:0100658 Cellulitis ORPHANET:33110 LRRC8A 56262 HP:0004370 Abnormality of temperature regulation ORPHANET:33110 LRRC8A 56262 HP:0000286 Epicanthus ORPHANET:33110 LRRC8A 56262 HP:0001392 Abnormality of the liver ORPHANET:33110 LRRC8A 56262 HP:0004313 Hypogammaglobulinemia ORPHANET:33110 LRRC8A 56262 HP:0200043 Verrucae ORPHANET:33110 LRRC8A 56262 HP:0002014 Diarrhea ORPHANET:33110 LRRC8A 56262 HP:0001944 Dehydration ORPHANET:33110 LRRC8A 56262 HP:0000316 Hypertelorism ORPHANET:33110 LRRC8A 56262 HP:0000988 Skin rash ORPHANET:33110 LRRC8A 56262 HP:0000174 Abnormality of the palate ORPHANET:33110 LRRC8A 56262 HP:0001369 Arthritis ORPHANET:33110 LRRC8A 56262 HP:0002205 Recurrent respiratory infections ORPHANET:33110 LRRC8A 56262 HP:0002109 Abnormality of the bronchi ORPHANET:33110 LRRC8A 56262 HP:0002024 Malabsorption ORPHANET:33110 LRRC8A 56262 HP:0008572 External ear malformation ORPHANET:33110 LRRC8A 56262 HP:0001874 Abnormality of neutrophils ORPHANET:33110 IGLL1 3543 HP:0000246 Sinusitis ORPHANET:33110 IGLL1 3543 HP:0001287 Meningitis ORPHANET:33110 IGLL1 3543 HP:0200042 Skin ulcer ORPHANET:33110 IGLL1 3543 HP:0100533 Inflammatory abnormality of the eye ORPHANET:33110 IGLL1 3543 HP:0100806 Sepsis ORPHANET:33110 IGLL1 3543 HP:0002754 Osteomyelitis ORPHANET:33110 IGLL1 3543 HP:0000388 Otitis media ORPHANET:33110 IGLL1 3543 HP:0100658 Cellulitis ORPHANET:33110 IGLL1 3543 HP:0004370 Abnormality of temperature regulation ORPHANET:33110 IGLL1 3543 HP:0000286 Epicanthus ORPHANET:33110 IGLL1 3543 HP:0001392 Abnormality of the liver ORPHANET:33110 IGLL1 3543 HP:0004313 Hypogammaglobulinemia ORPHANET:33110 IGLL1 3543 HP:0200043 Verrucae ORPHANET:33110 IGLL1 3543 HP:0002014 Diarrhea ORPHANET:33110 IGLL1 3543 HP:0001944 Dehydration ORPHANET:33110 IGLL1 3543 HP:0000316 Hypertelorism ORPHANET:33110 IGLL1 3543 HP:0000988 Skin rash ORPHANET:33110 IGLL1 3543 HP:0000174 Abnormality of the palate ORPHANET:33110 IGLL1 3543 HP:0001369 Arthritis ORPHANET:33110 IGLL1 3543 HP:0002205 Recurrent respiratory infections ORPHANET:33110 IGLL1 3543 HP:0002109 Abnormality of the bronchi ORPHANET:33110 IGLL1 3543 HP:0002024 Malabsorption ORPHANET:33110 IGLL1 3543 HP:0008572 External ear malformation ORPHANET:33110 IGLL1 3543 HP:0001874 Abnormality of neutrophils ORPHANET:33110 IGHM 3507 HP:0000246 Sinusitis ORPHANET:33110 IGHM 3507 HP:0001287 Meningitis ORPHANET:33110 IGHM 3507 HP:0200042 Skin ulcer ORPHANET:33110 IGHM 3507 HP:0100533 Inflammatory abnormality of the eye ORPHANET:33110 IGHM 3507 HP:0100806 Sepsis ORPHANET:33110 IGHM 3507 HP:0002754 Osteomyelitis ORPHANET:33110 IGHM 3507 HP:0000388 Otitis media ORPHANET:33110 IGHM 3507 HP:0100658 Cellulitis ORPHANET:33110 IGHM 3507 HP:0004370 Abnormality of temperature regulation ORPHANET:33110 IGHM 3507 HP:0000286 Epicanthus ORPHANET:33110 IGHM 3507 HP:0001392 Abnormality of the liver ORPHANET:33110 IGHM 3507 HP:0004313 Hypogammaglobulinemia ORPHANET:33110 IGHM 3507 HP:0200043 Verrucae ORPHANET:33110 IGHM 3507 HP:0002014 Diarrhea ORPHANET:33110 IGHM 3507 HP:0001944 Dehydration ORPHANET:33110 IGHM 3507 HP:0000316 Hypertelorism ORPHANET:33110 IGHM 3507 HP:0000988 Skin rash ORPHANET:33110 IGHM 3507 HP:0000174 Abnormality of the palate ORPHANET:33110 IGHM 3507 HP:0001369 Arthritis ORPHANET:33110 IGHM 3507 HP:0002205 Recurrent respiratory infections ORPHANET:33110 IGHM 3507 HP:0002109 Abnormality of the bronchi ORPHANET:33110 IGHM 3507 HP:0002024 Malabsorption ORPHANET:33110 IGHM 3507 HP:0008572 External ear malformation ORPHANET:33110 IGHM 3507 HP:0001874 Abnormality of neutrophils ORPHANET:33110 CD79B 974 HP:0000246 Sinusitis ORPHANET:33110 CD79B 974 HP:0001287 Meningitis ORPHANET:33110 CD79B 974 HP:0200042 Skin ulcer ORPHANET:33110 CD79B 974 HP:0100533 Inflammatory abnormality of the eye ORPHANET:33110 CD79B 974 HP:0100806 Sepsis ORPHANET:33110 CD79B 974 HP:0002754 Osteomyelitis ORPHANET:33110 CD79B 974 HP:0000388 Otitis media ORPHANET:33110 CD79B 974 HP:0100658 Cellulitis ORPHANET:33110 CD79B 974 HP:0004370 Abnormality of temperature regulation ORPHANET:33110 CD79B 974 HP:0000286 Epicanthus ORPHANET:33110 CD79B 974 HP:0001392 Abnormality of the liver ORPHANET:33110 CD79B 974 HP:0004313 Hypogammaglobulinemia ORPHANET:33110 CD79B 974 HP:0200043 Verrucae ORPHANET:33110 CD79B 974 HP:0002014 Diarrhea ORPHANET:33110 CD79B 974 HP:0001944 Dehydration ORPHANET:33110 CD79B 974 HP:0000316 Hypertelorism ORPHANET:33110 CD79B 974 HP:0000988 Skin rash ORPHANET:33110 CD79B 974 HP:0000174 Abnormality of the palate ORPHANET:33110 CD79B 974 HP:0001369 Arthritis ORPHANET:33110 CD79B 974 HP:0002205 Recurrent respiratory infections ORPHANET:33110 CD79B 974 HP:0002109 Abnormality of the bronchi ORPHANET:33110 CD79B 974 HP:0002024 Malabsorption ORPHANET:33110 CD79B 974 HP:0008572 External ear malformation ORPHANET:33110 CD79B 974 HP:0001874 Abnormality of neutrophils ORPHANET:33110 CD79A 973 HP:0000246 Sinusitis ORPHANET:33110 CD79A 973 HP:0001287 Meningitis ORPHANET:33110 CD79A 973 HP:0200042 Skin ulcer ORPHANET:33110 CD79A 973 HP:0100533 Inflammatory abnormality of the eye ORPHANET:33110 CD79A 973 HP:0100806 Sepsis ORPHANET:33110 CD79A 973 HP:0002754 Osteomyelitis ORPHANET:33110 CD79A 973 HP:0000388 Otitis media ORPHANET:33110 CD79A 973 HP:0100658 Cellulitis ORPHANET:33110 CD79A 973 HP:0004370 Abnormality of temperature regulation ORPHANET:33110 CD79A 973 HP:0000286 Epicanthus ORPHANET:33110 CD79A 973 HP:0001392 Abnormality of the liver ORPHANET:33110 CD79A 973 HP:0004313 Hypogammaglobulinemia ORPHANET:33110 CD79A 973 HP:0200043 Verrucae ORPHANET:33110 CD79A 973 HP:0002014 Diarrhea ORPHANET:33110 CD79A 973 HP:0001944 Dehydration ORPHANET:33110 CD79A 973 HP:0000316 Hypertelorism ORPHANET:33110 CD79A 973 HP:0000988 Skin rash ORPHANET:33110 CD79A 973 HP:0000174 Abnormality of the palate ORPHANET:33110 CD79A 973 HP:0001369 Arthritis ORPHANET:33110 CD79A 973 HP:0002205 Recurrent respiratory infections ORPHANET:33110 CD79A 973 HP:0002109 Abnormality of the bronchi ORPHANET:33110 CD79A 973 HP:0002024 Malabsorption ORPHANET:33110 CD79A 973 HP:0008572 External ear malformation ORPHANET:33110 CD79A 973 HP:0001874 Abnormality of neutrophils ORPHANET:33110 TCF3 6929 HP:0000246 Sinusitis ORPHANET:33110 TCF3 6929 HP:0001287 Meningitis ORPHANET:33110 TCF3 6929 HP:0200042 Skin ulcer ORPHANET:33110 TCF3 6929 HP:0100533 Inflammatory abnormality of the eye ORPHANET:33110 TCF3 6929 HP:0100806 Sepsis ORPHANET:33110 TCF3 6929 HP:0002754 Osteomyelitis ORPHANET:33110 TCF3 6929 HP:0000388 Otitis media ORPHANET:33110 TCF3 6929 HP:0100658 Cellulitis ORPHANET:33110 TCF3 6929 HP:0004370 Abnormality of temperature regulation ORPHANET:33110 TCF3 6929 HP:0000286 Epicanthus ORPHANET:33110 TCF3 6929 HP:0001392 Abnormality of the liver ORPHANET:33110 TCF3 6929 HP:0004313 Hypogammaglobulinemia ORPHANET:33110 TCF3 6929 HP:0200043 Verrucae ORPHANET:33110 TCF3 6929 HP:0002014 Diarrhea ORPHANET:33110 TCF3 6929 HP:0001944 Dehydration ORPHANET:33110 TCF3 6929 HP:0000316 Hypertelorism ORPHANET:33110 TCF3 6929 HP:0000988 Skin rash ORPHANET:33110 TCF3 6929 HP:0000174 Abnormality of the palate ORPHANET:33110 TCF3 6929 HP:0001369 Arthritis ORPHANET:33110 TCF3 6929 HP:0002205 Recurrent respiratory infections ORPHANET:33110 TCF3 6929 HP:0002109 Abnormality of the bronchi ORPHANET:33110 TCF3 6929 HP:0002024 Malabsorption ORPHANET:33110 TCF3 6929 HP:0008572 External ear malformation ORPHANET:33110 TCF3 6929 HP:0001874 Abnormality of neutrophils ORPHANET:33110 BLNK 29760 HP:0000246 Sinusitis ORPHANET:33110 BLNK 29760 HP:0001287 Meningitis ORPHANET:33110 BLNK 29760 HP:0200042 Skin ulcer ORPHANET:33110 BLNK 29760 HP:0100533 Inflammatory abnormality of the eye ORPHANET:33110 BLNK 29760 HP:0100806 Sepsis ORPHANET:33110 BLNK 29760 HP:0002754 Osteomyelitis ORPHANET:33110 BLNK 29760 HP:0000388 Otitis media ORPHANET:33110 BLNK 29760 HP:0100658 Cellulitis ORPHANET:33110 BLNK 29760 HP:0004370 Abnormality of temperature regulation ORPHANET:33110 BLNK 29760 HP:0000286 Epicanthus ORPHANET:33110 BLNK 29760 HP:0001392 Abnormality of the liver ORPHANET:33110 BLNK 29760 HP:0004313 Hypogammaglobulinemia ORPHANET:33110 BLNK 29760 HP:0200043 Verrucae ORPHANET:33110 BLNK 29760 HP:0002014 Diarrhea ORPHANET:33110 BLNK 29760 HP:0001944 Dehydration ORPHANET:33110 BLNK 29760 HP:0000316 Hypertelorism ORPHANET:33110 BLNK 29760 HP:0000988 Skin rash ORPHANET:33110 BLNK 29760 HP:0000174 Abnormality of the palate ORPHANET:33110 BLNK 29760 HP:0001369 Arthritis ORPHANET:33110 BLNK 29760 HP:0002205 Recurrent respiratory infections ORPHANET:33110 BLNK 29760 HP:0002109 Abnormality of the bronchi ORPHANET:33110 BLNK 29760 HP:0002024 Malabsorption ORPHANET:33110 BLNK 29760 HP:0008572 External ear malformation ORPHANET:33110 BLNK 29760 HP:0001874 Abnormality of neutrophils ORPHANET:33110 PIK3R1 5295 HP:0000246 Sinusitis ORPHANET:33110 PIK3R1 5295 HP:0001287 Meningitis ORPHANET:33110 PIK3R1 5295 HP:0200042 Skin ulcer ORPHANET:33110 PIK3R1 5295 HP:0100533 Inflammatory abnormality of the eye ORPHANET:33110 PIK3R1 5295 HP:0100806 Sepsis ORPHANET:33110 PIK3R1 5295 HP:0002754 Osteomyelitis ORPHANET:33110 PIK3R1 5295 HP:0000388 Otitis media ORPHANET:33110 PIK3R1 5295 HP:0100658 Cellulitis ORPHANET:33110 PIK3R1 5295 HP:0004370 Abnormality of temperature regulation ORPHANET:33110 PIK3R1 5295 HP:0000286 Epicanthus ORPHANET:33110 PIK3R1 5295 HP:0001392 Abnormality of the liver ORPHANET:33110 PIK3R1 5295 HP:0004313 Hypogammaglobulinemia ORPHANET:33110 PIK3R1 5295 HP:0200043 Verrucae ORPHANET:33110 PIK3R1 5295 HP:0002014 Diarrhea ORPHANET:33110 PIK3R1 5295 HP:0001944 Dehydration ORPHANET:33110 PIK3R1 5295 HP:0000316 Hypertelorism ORPHANET:33110 PIK3R1 5295 HP:0000988 Skin rash ORPHANET:33110 PIK3R1 5295 HP:0000174 Abnormality of the palate ORPHANET:33110 PIK3R1 5295 HP:0001369 Arthritis ORPHANET:33110 PIK3R1 5295 HP:0002205 Recurrent respiratory infections ORPHANET:33110 PIK3R1 5295 HP:0002109 Abnormality of the bronchi ORPHANET:33110 PIK3R1 5295 HP:0002024 Malabsorption ORPHANET:33110 PIK3R1 5295 HP:0008572 External ear malformation ORPHANET:33110 PIK3R1 5295 HP:0001874 Abnormality of neutrophils OMIM:613021 SCNN1A 6337 HP:0002110 Bronchiectasis OMIM:613021 SCNN1A 6337 HP:0004469 Chronic bronchitis OMIM:613021 SCNN1A 6337 HP:0000006 Autosomal dominant inheritance OMIM:613021 SCNN1A 6337 HP:0012236 Elevated sweat chloride OMIM:254090 COL6A1 1291 HP:0000975 Hyperhidrosis OMIM:254090 COL6A1 1291 HP:0006149 Increased laxity of fingers OMIM:254090 COL6A1 1291 HP:0001388 Joint laxity OMIM:254090 COL6A1 1291 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:254090 COL6A1 1291 HP:0001508 Failure to thrive OMIM:254090 COL6A1 1291 HP:0010628 Facial palsy OMIM:254090 COL6A1 1291 HP:0007502 Follicular hyperkeratosis OMIM:254090 COL6A1 1291 HP:0003557 Increased variability in muscle fiber diameter OMIM:254090 COL6A1 1291 HP:0002783 Recurrent lower respiratory tract infections OMIM:254090 COL6A1 1291 HP:0002808 Kyphosis OMIM:254090 COL6A1 1291 HP:0003700 Generalized amyotrophy OMIM:254090 COL6A1 1291 HP:0003701 Proximal muscle weakness OMIM:254090 COL6A1 1291 HP:0005072 Hyperextensibility at wrists OMIM:254090 COL6A1 1291 HP:0000007 Autosomal recessive inheritance OMIM:254090 COL6A1 1291 HP:0001319 Neonatal hypotonia OMIM:254090 COL6A1 1291 HP:0000311 Round face OMIM:254090 COL6A1 1291 HP:0003828 Variable expressivity OMIM:254090 COL6A1 1291 HP:0003713 Muscle fiber necrosis OMIM:254090 COL6A1 1291 HP:0000218 High palate OMIM:254090 COL6A1 1291 HP:0002827 Hip dislocation OMIM:254090 COL6A1 1291 HP:0006460 Increased laxity of ankles OMIM:254090 COL6A1 1291 HP:0000411 Protruding ear OMIM:254090 COL6A1 1291 HP:0002877 Nocturnal hypoventilation OMIM:254090 COL6A1 1291 HP:0003676 Progressive disorder OMIM:254090 COL6A1 1291 HP:0001533 Slender build OMIM:254090 COL6A1 1291 HP:0000006 Autosomal dominant inheritance OMIM:254090 COL6A1 1291 HP:0001371 Flexion contracture OMIM:254090 COL6A1 1291 HP:0008180 Mildly elevated creatine phosphokinase OMIM:254090 COL6A1 1291 HP:0002650 Scoliosis OMIM:254090 COL6A1 1291 HP:0003741 Congenital muscular dystrophy OMIM:254090 COL6A1 1291 HP:0003803 Type 1 muscle fiber predominance OMIM:254090 COL6A1 1291 HP:0001270 Motor delay OMIM:254090 COL6A1 1291 HP:0000473 Torticollis OMIM:254090 COL6A1 1291 HP:0001762 Talipes equinovarus OMIM:254090 COL6A1 1291 HP:0003306 Spinal rigidity OMIM:254090 COL6A1 1291 HP:0003593 Infantile onset OMIM:254090 COL6A1 1291 HP:0008872 Feeding difficulties in infancy OMIM:254090 COL6A2 1292 HP:0000975 Hyperhidrosis OMIM:254090 COL6A2 1292 HP:0006149 Increased laxity of fingers OMIM:254090 COL6A2 1292 HP:0001388 Joint laxity OMIM:254090 COL6A2 1292 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:254090 COL6A2 1292 HP:0001508 Failure to thrive OMIM:254090 COL6A2 1292 HP:0010628 Facial palsy OMIM:254090 COL6A2 1292 HP:0007502 Follicular hyperkeratosis OMIM:254090 COL6A2 1292 HP:0003557 Increased variability in muscle fiber diameter OMIM:254090 COL6A2 1292 HP:0002783 Recurrent lower respiratory tract infections OMIM:254090 COL6A2 1292 HP:0002808 Kyphosis OMIM:254090 COL6A2 1292 HP:0003700 Generalized amyotrophy OMIM:254090 COL6A2 1292 HP:0003701 Proximal muscle weakness OMIM:254090 COL6A2 1292 HP:0005072 Hyperextensibility at wrists OMIM:254090 COL6A2 1292 HP:0000007 Autosomal recessive inheritance OMIM:254090 COL6A2 1292 HP:0001319 Neonatal hypotonia OMIM:254090 COL6A2 1292 HP:0000311 Round face OMIM:254090 COL6A2 1292 HP:0003828 Variable expressivity OMIM:254090 COL6A2 1292 HP:0003713 Muscle fiber necrosis OMIM:254090 COL6A2 1292 HP:0000218 High palate OMIM:254090 COL6A2 1292 HP:0002827 Hip dislocation OMIM:254090 COL6A2 1292 HP:0006460 Increased laxity of ankles OMIM:254090 COL6A2 1292 HP:0000411 Protruding ear OMIM:254090 COL6A2 1292 HP:0002877 Nocturnal hypoventilation OMIM:254090 COL6A2 1292 HP:0003676 Progressive disorder OMIM:254090 COL6A2 1292 HP:0001533 Slender build OMIM:254090 COL6A2 1292 HP:0000006 Autosomal dominant inheritance OMIM:254090 COL6A2 1292 HP:0001371 Flexion contracture OMIM:254090 COL6A2 1292 HP:0008180 Mildly elevated creatine phosphokinase OMIM:254090 COL6A2 1292 HP:0002650 Scoliosis OMIM:254090 COL6A2 1292 HP:0003741 Congenital muscular dystrophy OMIM:254090 COL6A2 1292 HP:0003803 Type 1 muscle fiber predominance OMIM:254090 COL6A2 1292 HP:0001270 Motor delay OMIM:254090 COL6A2 1292 HP:0000473 Torticollis OMIM:254090 COL6A2 1292 HP:0001762 Talipes equinovarus OMIM:254090 COL6A2 1292 HP:0003306 Spinal rigidity OMIM:254090 COL6A2 1292 HP:0003593 Infantile onset OMIM:254090 COL6A2 1292 HP:0008872 Feeding difficulties in infancy OMIM:254090 COL6A3 1293 HP:0000975 Hyperhidrosis OMIM:254090 COL6A3 1293 HP:0006149 Increased laxity of fingers OMIM:254090 COL6A3 1293 HP:0001388 Joint laxity OMIM:254090 COL6A3 1293 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:254090 COL6A3 1293 HP:0001508 Failure to thrive OMIM:254090 COL6A3 1293 HP:0010628 Facial palsy OMIM:254090 COL6A3 1293 HP:0007502 Follicular hyperkeratosis OMIM:254090 COL6A3 1293 HP:0003557 Increased variability in muscle fiber diameter OMIM:254090 COL6A3 1293 HP:0002783 Recurrent lower respiratory tract infections OMIM:254090 COL6A3 1293 HP:0002808 Kyphosis OMIM:254090 COL6A3 1293 HP:0003700 Generalized amyotrophy OMIM:254090 COL6A3 1293 HP:0003701 Proximal muscle weakness OMIM:254090 COL6A3 1293 HP:0005072 Hyperextensibility at wrists OMIM:254090 COL6A3 1293 HP:0000007 Autosomal recessive inheritance OMIM:254090 COL6A3 1293 HP:0001319 Neonatal hypotonia OMIM:254090 COL6A3 1293 HP:0000311 Round face OMIM:254090 COL6A3 1293 HP:0003828 Variable expressivity OMIM:254090 COL6A3 1293 HP:0003713 Muscle fiber necrosis OMIM:254090 COL6A3 1293 HP:0000218 High palate OMIM:254090 COL6A3 1293 HP:0002827 Hip dislocation OMIM:254090 COL6A3 1293 HP:0006460 Increased laxity of ankles OMIM:254090 COL6A3 1293 HP:0000411 Protruding ear OMIM:254090 COL6A3 1293 HP:0002877 Nocturnal hypoventilation OMIM:254090 COL6A3 1293 HP:0003676 Progressive disorder OMIM:254090 COL6A3 1293 HP:0001533 Slender build OMIM:254090 COL6A3 1293 HP:0000006 Autosomal dominant inheritance OMIM:254090 COL6A3 1293 HP:0001371 Flexion contracture OMIM:254090 COL6A3 1293 HP:0008180 Mildly elevated creatine phosphokinase OMIM:254090 COL6A3 1293 HP:0002650 Scoliosis OMIM:254090 COL6A3 1293 HP:0003741 Congenital muscular dystrophy OMIM:254090 COL6A3 1293 HP:0003803 Type 1 muscle fiber predominance OMIM:254090 COL6A3 1293 HP:0001270 Motor delay OMIM:254090 COL6A3 1293 HP:0000473 Torticollis OMIM:254090 COL6A3 1293 HP:0001762 Talipes equinovarus OMIM:254090 COL6A3 1293 HP:0003306 Spinal rigidity OMIM:254090 COL6A3 1293 HP:0003593 Infantile onset OMIM:254090 COL6A3 1293 HP:0008872 Feeding difficulties in infancy OMIM:300419 ARX 170302 HP:0001249 Intellectual disability OMIM:300419 ARX 170302 HP:0001419 X-linked recessive inheritance OMIM:616277 ECHS1 1892 HP:0001257 Spasticity OMIM:616277 ECHS1 1892 HP:0000639 Nystagmus OMIM:616277 ECHS1 1892 HP:0001629 Ventricular septal defect OMIM:616277 ECHS1 1892 HP:0002490 Increased CSF lactate OMIM:616277 ECHS1 1892 HP:0001252 Muscular hypotonia OMIM:616277 ECHS1 1892 HP:0000365 Hearing impairment OMIM:616277 ECHS1 1892 HP:0002104 Apnea OMIM:616277 ECHS1 1892 HP:0002151 Increased serum lactate OMIM:616277 ECHS1 1892 HP:0001263 Global developmental delay OMIM:612798 EDN1 1906 HP:0030022 Question mark ear OMIM:612798 EDN1 1906 HP:0000006 Autosomal dominant inheritance ORPHANET:124 RPS24 6229 HP:0000457 Depressed nasal ridge ORPHANET:124 RPS24 6229 HP:0000078 Abnormality of the genital system ORPHANET:124 RPS24 6229 HP:0004322 Short stature ORPHANET:124 RPS24 6229 HP:0003196 Short nose ORPHANET:124 RPS24 6229 HP:0000079 Abnormality of the urinary system ORPHANET:124 RPS24 6229 HP:0000179 Thick lower lip vermilion ORPHANET:124 RPS24 6229 HP:0002076 Migraine ORPHANET:124 RPS24 6229 HP:0000175 Cleft palate ORPHANET:124 RPS24 6229 HP:0011675 Arrhythmia ORPHANET:124 RPS24 6229 HP:0002488 Acute leukemia ORPHANET:124 RPS24 6229 HP:0001972 Macrocytic anemia ORPHANET:124 RPS24 6229 HP:0000980 Pallor ORPHANET:124 RPS24 6229 HP:0001155 Abnormality of the hand ORPHANET:124 RPS26 6231 HP:0000457 Depressed nasal ridge ORPHANET:124 RPS26 6231 HP:0000078 Abnormality of the genital system ORPHANET:124 RPS26 6231 HP:0004322 Short stature ORPHANET:124 RPS26 6231 HP:0003196 Short nose ORPHANET:124 RPS26 6231 HP:0000079 Abnormality of the urinary system ORPHANET:124 RPS26 6231 HP:0000179 Thick lower lip vermilion ORPHANET:124 RPS26 6231 HP:0002076 Migraine ORPHANET:124 RPS26 6231 HP:0000175 Cleft palate ORPHANET:124 RPS26 6231 HP:0011675 Arrhythmia ORPHANET:124 RPS26 6231 HP:0002488 Acute leukemia ORPHANET:124 RPS26 6231 HP:0001972 Macrocytic anemia ORPHANET:124 RPS26 6231 HP:0000980 Pallor ORPHANET:124 RPS26 6231 HP:0001155 Abnormality of the hand ORPHANET:124 RPL35A 6165 HP:0000457 Depressed nasal ridge ORPHANET:124 RPL35A 6165 HP:0000078 Abnormality of the genital system ORPHANET:124 RPL35A 6165 HP:0004322 Short stature ORPHANET:124 RPL35A 6165 HP:0003196 Short nose ORPHANET:124 RPL35A 6165 HP:0000079 Abnormality of the urinary system ORPHANET:124 RPL35A 6165 HP:0000179 Thick lower lip vermilion ORPHANET:124 RPL35A 6165 HP:0002076 Migraine ORPHANET:124 RPL35A 6165 HP:0000175 Cleft palate ORPHANET:124 RPL35A 6165 HP:0011675 Arrhythmia ORPHANET:124 RPL35A 6165 HP:0002488 Acute leukemia ORPHANET:124 RPL35A 6165 HP:0001972 Macrocytic anemia ORPHANET:124 RPL35A 6165 HP:0000980 Pallor ORPHANET:124 RPL35A 6165 HP:0001155 Abnormality of the hand ORPHANET:124 RPL11 6135 HP:0000457 Depressed nasal ridge ORPHANET:124 RPL11 6135 HP:0000078 Abnormality of the genital system ORPHANET:124 RPL11 6135 HP:0004322 Short stature ORPHANET:124 RPL11 6135 HP:0003196 Short nose ORPHANET:124 RPL11 6135 HP:0000079 Abnormality of the urinary system ORPHANET:124 RPL11 6135 HP:0000179 Thick lower lip vermilion ORPHANET:124 RPL11 6135 HP:0002076 Migraine ORPHANET:124 RPL11 6135 HP:0000175 Cleft palate ORPHANET:124 RPL11 6135 HP:0011675 Arrhythmia ORPHANET:124 RPL11 6135 HP:0002488 Acute leukemia ORPHANET:124 RPL11 6135 HP:0001972 Macrocytic anemia ORPHANET:124 RPL11 6135 HP:0000980 Pallor ORPHANET:124 RPL11 6135 HP:0001155 Abnormality of the hand ORPHANET:124 GATA1 2623 HP:0000457 Depressed nasal ridge ORPHANET:124 GATA1 2623 HP:0000078 Abnormality of the genital system ORPHANET:124 GATA1 2623 HP:0004322 Short stature ORPHANET:124 GATA1 2623 HP:0003196 Short nose ORPHANET:124 GATA1 2623 HP:0000079 Abnormality of the urinary system ORPHANET:124 GATA1 2623 HP:0000179 Thick lower lip vermilion ORPHANET:124 GATA1 2623 HP:0002076 Migraine ORPHANET:124 GATA1 2623 HP:0000175 Cleft palate ORPHANET:124 GATA1 2623 HP:0011675 Arrhythmia ORPHANET:124 GATA1 2623 HP:0002488 Acute leukemia ORPHANET:124 GATA1 2623 HP:0001972 Macrocytic anemia ORPHANET:124 GATA1 2623 HP:0000980 Pallor ORPHANET:124 GATA1 2623 HP:0001155 Abnormality of the hand ORPHANET:124 RPS7 6201 HP:0000457 Depressed nasal ridge ORPHANET:124 RPS7 6201 HP:0000078 Abnormality of the genital system ORPHANET:124 RPS7 6201 HP:0004322 Short stature ORPHANET:124 RPS7 6201 HP:0003196 Short nose ORPHANET:124 RPS7 6201 HP:0000079 Abnormality of the urinary system ORPHANET:124 RPS7 6201 HP:0000179 Thick lower lip vermilion ORPHANET:124 RPS7 6201 HP:0002076 Migraine ORPHANET:124 RPS7 6201 HP:0000175 Cleft palate ORPHANET:124 RPS7 6201 HP:0011675 Arrhythmia ORPHANET:124 RPS7 6201 HP:0002488 Acute leukemia ORPHANET:124 RPS7 6201 HP:0001972 Macrocytic anemia ORPHANET:124 RPS7 6201 HP:0000980 Pallor ORPHANET:124 RPS7 6201 HP:0001155 Abnormality of the hand ORPHANET:124 RPL15 6138 HP:0000457 Depressed nasal ridge ORPHANET:124 RPL15 6138 HP:0000078 Abnormality of the genital system ORPHANET:124 RPL15 6138 HP:0004322 Short stature ORPHANET:124 RPL15 6138 HP:0003196 Short nose ORPHANET:124 RPL15 6138 HP:0000079 Abnormality of the urinary system ORPHANET:124 RPL15 6138 HP:0000179 Thick lower lip vermilion ORPHANET:124 RPL15 6138 HP:0002076 Migraine ORPHANET:124 RPL15 6138 HP:0000175 Cleft palate ORPHANET:124 RPL15 6138 HP:0011675 Arrhythmia ORPHANET:124 RPL15 6138 HP:0002488 Acute leukemia ORPHANET:124 RPL15 6138 HP:0001972 Macrocytic anemia ORPHANET:124 RPL15 6138 HP:0000980 Pallor ORPHANET:124 RPL15 6138 HP:0001155 Abnormality of the hand ORPHANET:124 RPS28 6234 HP:0000457 Depressed nasal ridge ORPHANET:124 RPS28 6234 HP:0000078 Abnormality of the genital system ORPHANET:124 RPS28 6234 HP:0004322 Short stature ORPHANET:124 RPS28 6234 HP:0003196 Short nose ORPHANET:124 RPS28 6234 HP:0000079 Abnormality of the urinary system ORPHANET:124 RPS28 6234 HP:0000179 Thick lower lip vermilion ORPHANET:124 RPS28 6234 HP:0002076 Migraine ORPHANET:124 RPS28 6234 HP:0000175 Cleft palate ORPHANET:124 RPS28 6234 HP:0011675 Arrhythmia ORPHANET:124 RPS28 6234 HP:0002488 Acute leukemia ORPHANET:124 RPS28 6234 HP:0001972 Macrocytic anemia ORPHANET:124 RPS28 6234 HP:0000980 Pallor ORPHANET:124 RPS28 6234 HP:0001155 Abnormality of the hand ORPHANET:124 RPS10 6204 HP:0000457 Depressed nasal ridge ORPHANET:124 RPS10 6204 HP:0000078 Abnormality of the genital system ORPHANET:124 RPS10 6204 HP:0004322 Short stature ORPHANET:124 RPS10 6204 HP:0003196 Short nose ORPHANET:124 RPS10 6204 HP:0000079 Abnormality of the urinary system ORPHANET:124 RPS10 6204 HP:0000179 Thick lower lip vermilion ORPHANET:124 RPS10 6204 HP:0002076 Migraine ORPHANET:124 RPS10 6204 HP:0000175 Cleft palate ORPHANET:124 RPS10 6204 HP:0011675 Arrhythmia ORPHANET:124 RPS10 6204 HP:0002488 Acute leukemia ORPHANET:124 RPS10 6204 HP:0001972 Macrocytic anemia ORPHANET:124 RPS10 6204 HP:0000980 Pallor ORPHANET:124 RPS10 6204 HP:0001155 Abnormality of the hand ORPHANET:124 RPS29 6235 HP:0000457 Depressed nasal ridge ORPHANET:124 RPS29 6235 HP:0000078 Abnormality of the genital system ORPHANET:124 RPS29 6235 HP:0004322 Short stature ORPHANET:124 RPS29 6235 HP:0003196 Short nose ORPHANET:124 RPS29 6235 HP:0000079 Abnormality of the urinary system ORPHANET:124 RPS29 6235 HP:0000179 Thick lower lip vermilion ORPHANET:124 RPS29 6235 HP:0002076 Migraine ORPHANET:124 RPS29 6235 HP:0000175 Cleft palate ORPHANET:124 RPS29 6235 HP:0011675 Arrhythmia ORPHANET:124 RPS29 6235 HP:0002488 Acute leukemia ORPHANET:124 RPS29 6235 HP:0001972 Macrocytic anemia ORPHANET:124 RPS29 6235 HP:0000980 Pallor ORPHANET:124 RPS29 6235 HP:0001155 Abnormality of the hand ORPHANET:124 RPS19 6223 HP:0000457 Depressed nasal ridge ORPHANET:124 RPS19 6223 HP:0000078 Abnormality of the genital system ORPHANET:124 RPS19 6223 HP:0004322 Short stature ORPHANET:124 RPS19 6223 HP:0003196 Short nose ORPHANET:124 RPS19 6223 HP:0000079 Abnormality of the urinary system ORPHANET:124 RPS19 6223 HP:0000179 Thick lower lip vermilion ORPHANET:124 RPS19 6223 HP:0002076 Migraine ORPHANET:124 RPS19 6223 HP:0000175 Cleft palate ORPHANET:124 RPS19 6223 HP:0011675 Arrhythmia ORPHANET:124 RPS19 6223 HP:0002488 Acute leukemia ORPHANET:124 RPS19 6223 HP:0001972 Macrocytic anemia ORPHANET:124 RPS19 6223 HP:0000980 Pallor ORPHANET:124 RPS19 6223 HP:0001155 Abnormality of the hand ORPHANET:124 RPL26 6154 HP:0000457 Depressed nasal ridge ORPHANET:124 RPL26 6154 HP:0000078 Abnormality of the genital system ORPHANET:124 RPL26 6154 HP:0004322 Short stature ORPHANET:124 RPL26 6154 HP:0003196 Short nose ORPHANET:124 RPL26 6154 HP:0000079 Abnormality of the urinary system ORPHANET:124 RPL26 6154 HP:0000179 Thick lower lip vermilion ORPHANET:124 RPL26 6154 HP:0002076 Migraine ORPHANET:124 RPL26 6154 HP:0000175 Cleft palate ORPHANET:124 RPL26 6154 HP:0011675 Arrhythmia ORPHANET:124 RPL26 6154 HP:0002488 Acute leukemia ORPHANET:124 RPL26 6154 HP:0001972 Macrocytic anemia ORPHANET:124 RPL26 6154 HP:0000980 Pallor ORPHANET:124 RPL26 6154 HP:0001155 Abnormality of the hand ORPHANET:124 RPL5 6125 HP:0000457 Depressed nasal ridge ORPHANET:124 RPL5 6125 HP:0000078 Abnormality of the genital system ORPHANET:124 RPL5 6125 HP:0004322 Short stature ORPHANET:124 RPL5 6125 HP:0003196 Short nose ORPHANET:124 RPL5 6125 HP:0000079 Abnormality of the urinary system ORPHANET:124 RPL5 6125 HP:0000179 Thick lower lip vermilion ORPHANET:124 RPL5 6125 HP:0002076 Migraine ORPHANET:124 RPL5 6125 HP:0000175 Cleft palate ORPHANET:124 RPL5 6125 HP:0011675 Arrhythmia ORPHANET:124 RPL5 6125 HP:0002488 Acute leukemia ORPHANET:124 RPL5 6125 HP:0001972 Macrocytic anemia ORPHANET:124 RPL5 6125 HP:0000980 Pallor ORPHANET:124 RPL5 6125 HP:0001155 Abnormality of the hand ORPHANET:124 TSR2 90121 HP:0000457 Depressed nasal ridge ORPHANET:124 TSR2 90121 HP:0000078 Abnormality of the genital system ORPHANET:124 TSR2 90121 HP:0004322 Short stature ORPHANET:124 TSR2 90121 HP:0003196 Short nose ORPHANET:124 TSR2 90121 HP:0000079 Abnormality of the urinary system ORPHANET:124 TSR2 90121 HP:0000179 Thick lower lip vermilion ORPHANET:124 TSR2 90121 HP:0002076 Migraine ORPHANET:124 TSR2 90121 HP:0000175 Cleft palate ORPHANET:124 TSR2 90121 HP:0011675 Arrhythmia ORPHANET:124 TSR2 90121 HP:0002488 Acute leukemia ORPHANET:124 TSR2 90121 HP:0001972 Macrocytic anemia ORPHANET:124 TSR2 90121 HP:0000980 Pallor ORPHANET:124 TSR2 90121 HP:0001155 Abnormality of the hand ORPHANET:124 RPS17 6218 HP:0000457 Depressed nasal ridge ORPHANET:124 RPS17 6218 HP:0000078 Abnormality of the genital system ORPHANET:124 RPS17 6218 HP:0004322 Short stature ORPHANET:124 RPS17 6218 HP:0003196 Short nose ORPHANET:124 RPS17 6218 HP:0000079 Abnormality of the urinary system ORPHANET:124 RPS17 6218 HP:0000179 Thick lower lip vermilion ORPHANET:124 RPS17 6218 HP:0002076 Migraine ORPHANET:124 RPS17 6218 HP:0000175 Cleft palate ORPHANET:124 RPS17 6218 HP:0011675 Arrhythmia ORPHANET:124 RPS17 6218 HP:0002488 Acute leukemia ORPHANET:124 RPS17 6218 HP:0001972 Macrocytic anemia ORPHANET:124 RPS17 6218 HP:0000980 Pallor ORPHANET:124 RPS17 6218 HP:0001155 Abnormality of the hand OMIM:276600 TAT 6898 HP:0007759 Opacification of the corneal stroma OMIM:276600 TAT 6898 HP:0008066 Abnormal blistering of the skin OMIM:276600 TAT 6898 HP:0100543 Cognitive impairment OMIM:276600 TAT 6898 HP:0001597 Abnormality of the nail OMIM:276600 TAT 6898 HP:0000951 Abnormality of the skin OMIM:276600 TAT 6898 HP:0100533 Inflammatory abnormality of the eye OMIM:276600 TAT 6898 HP:0002167 Neurological speech impairment OMIM:276600 TAT 6898 HP:0001249 Intellectual disability OMIM:276600 TAT 6898 HP:0001510 Growth delay OMIM:276600 TAT 6898 HP:0007812 Herpetiform corneal ulceration OMIM:276600 TAT 6898 HP:0003231 Hypertyrosinemia OMIM:276600 TAT 6898 HP:0000252 Microcephaly OMIM:276600 TAT 6898 HP:0000505 Visual impairment OMIM:276600 TAT 6898 HP:0000975 Hyperhidrosis OMIM:276600 TAT 6898 HP:0000982 Palmoplantar keratoderma OMIM:276600 TAT 6898 HP:0003355 Aminoaciduria OMIM:276600 TAT 6898 HP:0000007 Autosomal recessive inheritance OMIM:276600 TAT 6898 HP:0010669 Cheekbone underdevelopment OMIM:276600 TAT 6898 HP:0003161 4-Hydroxyphenylpyruvic aciduria OMIM:276600 TAT 6898 HP:0002311 Incoordination OMIM:276600 TAT 6898 HP:0001250 Seizures OMIM:276600 TAT 6898 HP:0001337 Tremor OMIM:276600 TAT 6898 HP:0000639 Nystagmus OMIM:276600 TAT 6898 HP:0000613 Photophobia ORPHANET:2556 HCCS 3052 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:2556 HCCS 3052 HP:0004327 Abnormality of the vitreous humor ORPHANET:2556 HCCS 3052 HP:0000035 Abnormality of the testis ORPHANET:2556 HCCS 3052 HP:0000037 Male pseudohermaphroditism ORPHANET:2556 HCCS 3052 HP:0100543 Cognitive impairment ORPHANET:2556 HCCS 3052 HP:0000627 Posterior embryotoxon ORPHANET:2556 HCCS 3052 HP:0000776 Congenital diaphragmatic hernia ORPHANET:2556 HCCS 3052 HP:0000366 Abnormality of the nose ORPHANET:2556 HCCS 3052 HP:0100627 Displacement of the external urethral meatus ORPHANET:2556 HCCS 3052 HP:0000252 Microcephaly ORPHANET:2556 HCCS 3052 HP:0000532 Chorioretinal abnormality ORPHANET:2556 HCCS 3052 HP:0000365 Hearing impairment ORPHANET:2556 HCCS 3052 HP:0011024 Abnormality of the gastrointestinal tract ORPHANET:2556 HCCS 3052 HP:0004322 Short stature ORPHANET:2556 HCCS 3052 HP:0000960 Sacral dimple ORPHANET:2556 HCCS 3052 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:2556 HCCS 3052 HP:0001597 Abnormality of the nail ORPHANET:2556 HCCS 3052 HP:0001250 Seizures ORPHANET:2556 HCCS 3052 HP:0000501 Glaucoma ORPHANET:2556 HCCS 3052 HP:0000682 Abnormality of dental enamel ORPHANET:2556 HCCS 3052 HP:0002093 Respiratory insufficiency ORPHANET:2556 HCCS 3052 HP:0002167 Neurological speech impairment ORPHANET:2556 HCCS 3052 HP:0011675 Arrhythmia ORPHANET:2556 HCCS 3052 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:2556 HCCS 3052 HP:0007400 Irregular hyperpigmentation ORPHANET:2556 HCCS 3052 HP:0000347 Micrognathia ORPHANET:2556 HCCS 3052 HP:0010458 Female pseudohermaphroditism ORPHANET:2556 HCCS 3052 HP:0000272 Malar flattening ORPHANET:2556 HCCS 3052 HP:0000008 Abnormality of female internal genitalia ORPHANET:2556 HCCS 3052 HP:0007703 Abnormal retinal pigmentation ORPHANET:2556 HCCS 3052 HP:0000647 Sclerocornea ORPHANET:2556 HCCS 3052 HP:0007759 Opacification of the corneal stroma ORPHANET:2556 HCCS 3052 HP:0000505 Visual impairment ORPHANET:2556 HCCS 3052 HP:0000062 Ambiguous genitalia ORPHANET:2556 HCCS 3052 HP:0001671 Abnormality of the cardiac septa ORPHANET:2556 HCCS 3052 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:2556 HCCS 3052 HP:0001633 Abnormality of the mitral valve ORPHANET:2556 HCCS 3052 HP:0000238 Hydrocephalus ORPHANET:2556 HCCS 3052 HP:0001053 Hypopigmented skin patches ORPHANET:2556 HCCS 3052 HP:0001702 Abnormality of the tricuspid valve ORPHANET:2556 HCCS 3052 HP:0009908 Anterior creases of earlobe ORPHANET:2556 COX7B 1349 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:2556 COX7B 1349 HP:0004327 Abnormality of the vitreous humor ORPHANET:2556 COX7B 1349 HP:0000035 Abnormality of the testis ORPHANET:2556 COX7B 1349 HP:0000037 Male pseudohermaphroditism ORPHANET:2556 COX7B 1349 HP:0100543 Cognitive impairment ORPHANET:2556 COX7B 1349 HP:0000627 Posterior embryotoxon ORPHANET:2556 COX7B 1349 HP:0000776 Congenital diaphragmatic hernia ORPHANET:2556 COX7B 1349 HP:0000366 Abnormality of the nose ORPHANET:2556 COX7B 1349 HP:0100627 Displacement of the external urethral meatus ORPHANET:2556 COX7B 1349 HP:0000252 Microcephaly ORPHANET:2556 COX7B 1349 HP:0000532 Chorioretinal abnormality ORPHANET:2556 COX7B 1349 HP:0000365 Hearing impairment ORPHANET:2556 COX7B 1349 HP:0011024 Abnormality of the gastrointestinal tract ORPHANET:2556 COX7B 1349 HP:0004322 Short stature ORPHANET:2556 COX7B 1349 HP:0000960 Sacral dimple ORPHANET:2556 COX7B 1349 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:2556 COX7B 1349 HP:0001597 Abnormality of the nail ORPHANET:2556 COX7B 1349 HP:0001250 Seizures ORPHANET:2556 COX7B 1349 HP:0000501 Glaucoma ORPHANET:2556 COX7B 1349 HP:0000682 Abnormality of dental enamel ORPHANET:2556 COX7B 1349 HP:0002093 Respiratory insufficiency ORPHANET:2556 COX7B 1349 HP:0002167 Neurological speech impairment ORPHANET:2556 COX7B 1349 HP:0011675 Arrhythmia ORPHANET:2556 COX7B 1349 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:2556 COX7B 1349 HP:0007400 Irregular hyperpigmentation ORPHANET:2556 COX7B 1349 HP:0000347 Micrognathia ORPHANET:2556 COX7B 1349 HP:0010458 Female pseudohermaphroditism ORPHANET:2556 COX7B 1349 HP:0000272 Malar flattening ORPHANET:2556 COX7B 1349 HP:0000008 Abnormality of female internal genitalia ORPHANET:2556 COX7B 1349 HP:0007703 Abnormal retinal pigmentation ORPHANET:2556 COX7B 1349 HP:0000647 Sclerocornea ORPHANET:2556 COX7B 1349 HP:0007759 Opacification of the corneal stroma ORPHANET:2556 COX7B 1349 HP:0000505 Visual impairment ORPHANET:2556 COX7B 1349 HP:0000062 Ambiguous genitalia ORPHANET:2556 COX7B 1349 HP:0001671 Abnormality of the cardiac septa ORPHANET:2556 COX7B 1349 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:2556 COX7B 1349 HP:0001633 Abnormality of the mitral valve ORPHANET:2556 COX7B 1349 HP:0000238 Hydrocephalus ORPHANET:2556 COX7B 1349 HP:0001053 Hypopigmented skin patches ORPHANET:2556 COX7B 1349 HP:0001702 Abnormality of the tricuspid valve ORPHANET:2556 COX7B 1349 HP:0009908 Anterior creases of earlobe ORPHANET:2556 NDUFB11 54539 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:2556 NDUFB11 54539 HP:0004327 Abnormality of the vitreous humor ORPHANET:2556 NDUFB11 54539 HP:0000035 Abnormality of the testis ORPHANET:2556 NDUFB11 54539 HP:0000037 Male pseudohermaphroditism ORPHANET:2556 NDUFB11 54539 HP:0100543 Cognitive impairment ORPHANET:2556 NDUFB11 54539 HP:0000627 Posterior embryotoxon ORPHANET:2556 NDUFB11 54539 HP:0000776 Congenital diaphragmatic hernia ORPHANET:2556 NDUFB11 54539 HP:0000366 Abnormality of the nose ORPHANET:2556 NDUFB11 54539 HP:0100627 Displacement of the external urethral meatus ORPHANET:2556 NDUFB11 54539 HP:0000252 Microcephaly ORPHANET:2556 NDUFB11 54539 HP:0000532 Chorioretinal abnormality ORPHANET:2556 NDUFB11 54539 HP:0000365 Hearing impairment ORPHANET:2556 NDUFB11 54539 HP:0011024 Abnormality of the gastrointestinal tract ORPHANET:2556 NDUFB11 54539 HP:0004322 Short stature ORPHANET:2556 NDUFB11 54539 HP:0000960 Sacral dimple ORPHANET:2556 NDUFB11 54539 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:2556 NDUFB11 54539 HP:0001597 Abnormality of the nail ORPHANET:2556 NDUFB11 54539 HP:0001250 Seizures ORPHANET:2556 NDUFB11 54539 HP:0000501 Glaucoma ORPHANET:2556 NDUFB11 54539 HP:0000682 Abnormality of dental enamel ORPHANET:2556 NDUFB11 54539 HP:0002093 Respiratory insufficiency ORPHANET:2556 NDUFB11 54539 HP:0002167 Neurological speech impairment ORPHANET:2556 NDUFB11 54539 HP:0011675 Arrhythmia ORPHANET:2556 NDUFB11 54539 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:2556 NDUFB11 54539 HP:0007400 Irregular hyperpigmentation ORPHANET:2556 NDUFB11 54539 HP:0000347 Micrognathia ORPHANET:2556 NDUFB11 54539 HP:0010458 Female pseudohermaphroditism ORPHANET:2556 NDUFB11 54539 HP:0000272 Malar flattening ORPHANET:2556 NDUFB11 54539 HP:0000008 Abnormality of female internal genitalia ORPHANET:2556 NDUFB11 54539 HP:0007703 Abnormal retinal pigmentation ORPHANET:2556 NDUFB11 54539 HP:0000647 Sclerocornea ORPHANET:2556 NDUFB11 54539 HP:0007759 Opacification of the corneal stroma ORPHANET:2556 NDUFB11 54539 HP:0000505 Visual impairment ORPHANET:2556 NDUFB11 54539 HP:0000062 Ambiguous genitalia ORPHANET:2556 NDUFB11 54539 HP:0001671 Abnormality of the cardiac septa ORPHANET:2556 NDUFB11 54539 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:2556 NDUFB11 54539 HP:0001633 Abnormality of the mitral valve ORPHANET:2556 NDUFB11 54539 HP:0000238 Hydrocephalus ORPHANET:2556 NDUFB11 54539 HP:0001053 Hypopigmented skin patches ORPHANET:2556 NDUFB11 54539 HP:0001702 Abnormality of the tricuspid valve ORPHANET:2556 NDUFB11 54539 HP:0009908 Anterior creases of earlobe OMIM:614602 SKIV2L 6499 HP:0011473 Villous atrophy OMIM:614602 SKIV2L 6499 HP:0002721 Immunodeficiency OMIM:614602 SKIV2L 6499 HP:0001508 Failure to thrive OMIM:614602 SKIV2L 6499 HP:0000007 Autosomal recessive inheritance OMIM:614602 SKIV2L 6499 HP:0002299 Brittle hair OMIM:614602 SKIV2L 6499 HP:0008070 Sparse hair OMIM:614602 SKIV2L 6499 HP:0001518 Small for gestational age OMIM:614602 SKIV2L 6499 HP:0009886 Trichorrhexis nodosa OMIM:614602 SKIV2L 6499 HP:0001511 Intrauterine growth retardation OMIM:614602 SKIV2L 6499 HP:0002235 Pili canaliculi OMIM:614602 SKIV2L 6499 HP:0002014 Diarrhea OMIM:614602 SKIV2L 6499 HP:0030056 Uncombable hair OMIM:614602 SKIV2L 6499 HP:0002583 Colitis OMIM:614602 SKIV2L 6499 HP:0011220 Prominent forehead OMIM:614602 SKIV2L 6499 HP:0000445 Wide nose OMIM:614602 SKIV2L 6499 HP:0001394 Cirrhosis OMIM:614602 SKIV2L 6499 HP:0000316 Hypertelorism OMIM:614602 SKIV2L 6499 HP:0012115 Hepatitis OMIM:614602 SKIV2L 6499 HP:0002224 Woolly hair OMIM:614602 SKIV2L 6499 HP:0002240 Hepatomegaly OMIM:614415 SAMHD1 25939 HP:0000006 Autosomal dominant inheritance OMIM:614415 SAMHD1 25939 HP:0000992 Cutaneous photosensitivity OMIM:610357 KIF1A 547 HP:0001347 Hyperreflexia OMIM:610357 KIF1A 547 HP:0003477 Peripheral axonal neuropathy OMIM:610357 KIF1A 547 HP:0002064 Spastic gait OMIM:610357 KIF1A 547 HP:0000007 Autosomal recessive inheritance OMIM:610357 KIF1A 547 HP:0001258 Spastic paraplegia OMIM:610357 KIF1A 547 HP:0001272 Cerebellar atrophy OMIM:610357 KIF1A 547 HP:0011448 Ankle clonus OMIM:610357 KIF1A 547 HP:0003677 Slow progression OMIM:610357 KIF1A 547 HP:0003487 Babinski sign OMIM:610357 KIF1A 547 HP:0001310 Dysmetria OMIM:610357 KIF1A 547 HP:0002839 Urinary bladder sphincter dysfunction OMIM:610357 KIF1A 547 HP:0007210 Lower limb amyotrophy OMIM:610357 KIF1A 547 HP:0007340 Lower limb muscle weakness OMIM:610357 KIF1A 547 HP:0002061 Lower limb spasticity ORPHANET:782 FOXC1 2296 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:782 FOXC1 2296 HP:0002564 Malformation of the heart and great vessels ORPHANET:782 FOXC1 2296 HP:0000691 Microdontia ORPHANET:782 FOXC1 2296 HP:0000365 Hearing impairment ORPHANET:782 FOXC1 2296 HP:0000506 Telecanthus ORPHANET:782 FOXC1 2296 HP:0100627 Displacement of the external urethral meatus ORPHANET:782 FOXC1 2296 HP:0000593 Abnormality of the anterior chamber ORPHANET:782 FOXC1 2296 HP:0000272 Malar flattening ORPHANET:782 FOXC1 2296 HP:0000316 Hypertelorism ORPHANET:782 FOXC1 2296 HP:0000627 Posterior embryotoxon ORPHANET:782 FOXC1 2296 HP:0000501 Glaucoma ORPHANET:782 FOXC1 2296 HP:0000973 Cutis laxa ORPHANET:782 FOXC1 2296 HP:0009804 Reduced number of teeth ORPHANET:782 FOXC1 2296 HP:0002007 Frontal bossing ORPHANET:782 FOXC1 2296 HP:0100589 Urogenital fistula ORPHANET:782 FOXC1 2296 HP:0000232 Everted lower lip vermilion ORPHANET:782 FOXC1 2296 HP:0005280 Depressed nasal bridge ORPHANET:782 FOXC1 2296 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:782 PITX2 5308 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:782 PITX2 5308 HP:0002564 Malformation of the heart and great vessels ORPHANET:782 PITX2 5308 HP:0000691 Microdontia ORPHANET:782 PITX2 5308 HP:0000365 Hearing impairment ORPHANET:782 PITX2 5308 HP:0000506 Telecanthus ORPHANET:782 PITX2 5308 HP:0100627 Displacement of the external urethral meatus ORPHANET:782 PITX2 5308 HP:0000593 Abnormality of the anterior chamber ORPHANET:782 PITX2 5308 HP:0000272 Malar flattening ORPHANET:782 PITX2 5308 HP:0000316 Hypertelorism ORPHANET:782 PITX2 5308 HP:0000627 Posterior embryotoxon ORPHANET:782 PITX2 5308 HP:0000501 Glaucoma ORPHANET:782 PITX2 5308 HP:0000973 Cutis laxa ORPHANET:782 PITX2 5308 HP:0009804 Reduced number of teeth ORPHANET:782 PITX2 5308 HP:0002007 Frontal bossing ORPHANET:782 PITX2 5308 HP:0100589 Urogenital fistula ORPHANET:782 PITX2 5308 HP:0000232 Everted lower lip vermilion ORPHANET:782 PITX2 5308 HP:0005280 Depressed nasal bridge ORPHANET:782 PITX2 5308 HP:0000864 Abnormality of the hypothalamus-pituitary axis OMIM:220100 SLC3A1 6519 HP:0000787 Nephrolithiasis OMIM:220100 SLC3A1 6519 HP:0000007 Autosomal recessive inheritance OMIM:220100 SLC3A1 6519 HP:0000083 Renal insufficiency OMIM:220100 SLC3A1 6519 HP:0000006 Autosomal dominant inheritance OMIM:220100 SLC3A1 6519 HP:0000707 Abnormality of the nervous system OMIM:220100 SLC3A1 6519 HP:0003532 Ornithinuria OMIM:220100 SLC3A1 6519 HP:0002149 Hyperuricemia OMIM:220100 SLC3A1 6519 HP:0000010 Recurrent urinary tract infections OMIM:220100 SLC3A1 6519 HP:0003268 Argininuria OMIM:220100 SLC3A1 6519 HP:0003297 Hyperlysinuria OMIM:220100 SLC3A1 6519 HP:0003131 Cystinuria OMIM:220100 SLC3A1 6519 HP:0000790 Hematuria OMIM:220100 SLC3A1 6519 HP:0003828 Variable expressivity OMIM:220100 SLC7A9 11136 HP:0000787 Nephrolithiasis OMIM:220100 SLC7A9 11136 HP:0000007 Autosomal recessive inheritance OMIM:220100 SLC7A9 11136 HP:0000083 Renal insufficiency OMIM:220100 SLC7A9 11136 HP:0000006 Autosomal dominant inheritance OMIM:220100 SLC7A9 11136 HP:0000707 Abnormality of the nervous system OMIM:220100 SLC7A9 11136 HP:0003532 Ornithinuria OMIM:220100 SLC7A9 11136 HP:0002149 Hyperuricemia OMIM:220100 SLC7A9 11136 HP:0000010 Recurrent urinary tract infections OMIM:220100 SLC7A9 11136 HP:0003268 Argininuria OMIM:220100 SLC7A9 11136 HP:0003297 Hyperlysinuria OMIM:220100 SLC7A9 11136 HP:0003131 Cystinuria OMIM:220100 SLC7A9 11136 HP:0000790 Hematuria OMIM:220100 SLC7A9 11136 HP:0003828 Variable expressivity OMIM:606346 MYO6 4646 HP:0000407 Sensorineural hearing impairment OMIM:606346 MYO6 4646 HP:0000006 Autosomal dominant inheritance OMIM:226400 TMC8 147138 HP:0200043 Verrucae OMIM:226400 TMC8 147138 HP:0001939 Abnormality of metabolism/homeostasis OMIM:226400 TMC8 147138 HP:0002671 Basal cell carcinoma OMIM:226400 TMC6 11322 HP:0200043 Verrucae OMIM:226400 TMC6 11322 HP:0001939 Abnormality of metabolism/homeostasis OMIM:226400 TMC6 11322 HP:0002671 Basal cell carcinoma OMIM:181400 DES 1674 HP:0000006 Autosomal dominant inheritance OMIM:181400 DES 1674 HP:0009049 Peroneal muscle atrophy OMIM:181400 DES 1674 HP:0003704 Scapuloperoneal weakness OMIM:181400 DES 1674 HP:0001762 Talipes equinovarus OMIM:181400 DES 1674 HP:0009027 Foot dorsiflexor weakness OMIM:181400 DES 1674 HP:0003724 Shoulder girdle muscle atrophy OMIM:609180 MPDU1 9526 HP:0001252 Muscular hypotonia OMIM:609180 MPDU1 9526 HP:0100543 Cognitive impairment OMIM:609180 MPDU1 9526 HP:0001250 Seizures OMIM:609180 MPDU1 9526 HP:0000478 Abnormality of the eye OMIM:166780 EYA1 2138 HP:0000472 Long neck OMIM:166780 EYA1 2138 HP:0000006 Autosomal dominant inheritance OMIM:166780 EYA1 2138 HP:0004467 Preauricular pit OMIM:166780 EYA1 2138 HP:0001256 Intellectual disability, mild OMIM:166780 EYA1 2138 HP:0000460 Narrow nose OMIM:166780 EYA1 2138 HP:0200021 Down-sloping shoulders OMIM:166780 EYA1 2138 HP:0000276 Long face OMIM:166780 EYA1 2138 HP:0000405 Conductive hearing impairment OMIM:166780 EYA1 2138 HP:0003691 Scapular winging OMIM:415000 USP9Y 8287 HP:0000027 Azoospermia OMIM:415000 USP9Y 8287 HP:0001450 Y-linked inheritance OMIM:245600 B3GAT3 26229 HP:0001290 Generalized hypotonia OMIM:245600 B3GAT3 26229 HP:0001655 Patent foramen ovale OMIM:245600 B3GAT3 26229 HP:0011220 Prominent forehead OMIM:245600 B3GAT3 26229 HP:0000776 Congenital diaphragmatic hernia OMIM:245600 B3GAT3 26229 HP:0002007 Frontal bossing OMIM:245600 B3GAT3 26229 HP:0000023 Inguinal hernia OMIM:245600 B3GAT3 26229 HP:0000565 Esotropia OMIM:245600 B3GAT3 26229 HP:0000974 Hyperextensible skin OMIM:245600 B3GAT3 26229 HP:0001380 Ligamentous laxity OMIM:245600 B3GAT3 26229 HP:0001762 Talipes equinovarus OMIM:245600 B3GAT3 26229 HP:0012095 Multiple joint dislocation OMIM:245600 B3GAT3 26229 HP:0001852 Sandal gap OMIM:245600 B3GAT3 26229 HP:0009880 Broad distal phalanges of all fingers OMIM:245600 B3GAT3 26229 HP:0002616 Aortic root dilatation OMIM:245600 B3GAT3 26229 HP:0000768 Pectus carinatum OMIM:245600 B3GAT3 26229 HP:0001270 Motor delay OMIM:245600 B3GAT3 26229 HP:0000973 Cutis laxa OMIM:245600 B3GAT3 26229 HP:0002650 Scoliosis OMIM:245600 B3GAT3 26229 HP:0001712 Left ventricular hypertrophy OMIM:245600 B3GAT3 26229 HP:0000238 Hydrocephalus OMIM:245600 B3GAT3 26229 HP:0001640 Cardiomegaly OMIM:245600 B3GAT3 26229 HP:0001840 Metatarsus adductus OMIM:245600 B3GAT3 26229 HP:0008551 Microtia OMIM:245600 B3GAT3 26229 HP:0000316 Hypertelorism OMIM:245600 B3GAT3 26229 HP:0000470 Short neck OMIM:245600 B3GAT3 26229 HP:0000494 Downslanted palpebral fissures OMIM:245600 B3GAT3 26229 HP:0001090 Large eyes OMIM:245600 B3GAT3 26229 HP:0002857 Genu valgum OMIM:245600 B3GAT3 26229 HP:0005021 Bilateral elbow dislocations OMIM:245600 B3GAT3 26229 HP:0001388 Joint laxity OMIM:245600 B3GAT3 26229 HP:0005280 Depressed nasal bridge OMIM:245600 B3GAT3 26229 HP:0040160 Generalized osteoporosis OMIM:245600 B3GAT3 26229 HP:0000574 Thick eyebrow OMIM:245600 B3GAT3 26229 HP:0000160 Narrow mouth OMIM:245600 B3GAT3 26229 HP:0001647 Bicuspid aortic valve OMIM:245600 B3GAT3 26229 HP:0000175 Cleft palate OMIM:245600 B3GAT3 26229 HP:0006099 Metacarpophalangeal joint hyperextensibility OMIM:245600 B3GAT3 26229 HP:0000938 Osteopenia OMIM:245600 B3GAT3 26229 HP:0004322 Short stature OMIM:245600 B3GAT3 26229 HP:0003051 Enlarged metaphyses OMIM:245600 B3GAT3 26229 HP:0001087 Congenital glaucoma OMIM:245600 B3GAT3 26229 HP:0000274 Small face OMIM:245600 B3GAT3 26229 HP:0002987 Elbow flexion contracture OMIM:245600 B3GAT3 26229 HP:0008593 Prominent antitragus OMIM:245600 B3GAT3 26229 HP:0000592 Blue sclerae OMIM:245600 B3GAT3 26229 HP:0002827 Hip dislocation OMIM:245600 B3GAT3 26229 HP:0001222 Spatulate thumbs OMIM:245600 B3GAT3 26229 HP:0005616 Accelerated skeletal maturation OMIM:245600 B3GAT3 26229 HP:0000646 Amblyopia OMIM:245600 B3GAT3 26229 HP:0004976 Knee dislocation OMIM:245600 B3GAT3 26229 HP:0000308 Microretrognathia OMIM:245600 B3GAT3 26229 HP:0002974 Radioulnar synostosis OMIM:245600 B3GAT3 26229 HP:0000369 Low-set ears OMIM:245600 B3GAT3 26229 HP:0001634 Mitral valve prolapse OMIM:245600 B3GAT3 26229 HP:0012368 Flat face OMIM:245600 B3GAT3 26229 HP:0001772 Talipes equinovalgus OMIM:245600 B3GAT3 26229 HP:0001763 Pes planus OMIM:245600 B3GAT3 26229 HP:0000007 Autosomal recessive inheritance OMIM:245600 B3GAT3 26229 HP:0000248 Brachycephaly OMIM:245600 B3GAT3 26229 HP:0002162 Low posterior hairline OMIM:245600 B3GAT3 26229 HP:0003834 Shoulder dislocation OMIM:245600 B3GAT3 26229 HP:0000540 Hypermetropia OMIM:245600 B3GAT3 26229 HP:0000465 Webbed neck OMIM:245600 B3GAT3 26229 HP:0002750 Delayed skeletal maturation OMIM:245600 B3GAT3 26229 HP:0000774 Narrow chest OMIM:245600 B3GAT3 26229 HP:0000691 Microdontia OMIM:147250 SHH 6469 HP:0000204 Cleft upper lip OMIM:147250 SHH 6469 HP:0009914 Cyclopia OMIM:147250 SHH 6469 HP:0008736 Hypoplasia of penis OMIM:147250 SHH 6469 HP:0009800 Maternal diabetes OMIM:147250 SHH 6469 HP:0003422 Vertebral segmentation defect OMIM:147250 SHH 6469 HP:0000824 Growth hormone deficiency OMIM:147250 SHH 6469 HP:0000175 Cleft palate OMIM:147250 SHH 6469 HP:0100867 Duodenal stenosis OMIM:147250 SHH 6469 HP:0000006 Autosomal dominant inheritance OMIM:147250 SHH 6469 HP:0001622 Premature birth OMIM:147250 SHH 6469 HP:0000612 Iris coloboma OMIM:147250 SHH 6469 HP:0000568 Microphthalmos OMIM:147250 SHH 6469 HP:0001739 Abnormality of the nasopharynx OMIM:147250 SHH 6469 HP:0000453 Choanal atresia OMIM:147250 SHH 6469 HP:0000951 Abnormality of the skin OMIM:147250 SHH 6469 HP:0000528 Anophthalmia OMIM:147250 SHH 6469 HP:0000446 Narrow nasal bridge OMIM:147250 SHH 6469 HP:0001511 Intrauterine growth retardation OMIM:147250 SHH 6469 HP:0004322 Short stature OMIM:147250 SHH 6469 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:147250 SHH 6469 HP:0006315 Single median maxillary incisor OMIM:147250 SHH 6469 HP:0008678 Renal hypoplasia/aplasia OMIM:147250 SHH 6469 HP:0000830 Anterior hypopituitarism OMIM:147250 SHH 6469 HP:0010644 Midnasal stenosis OMIM:147250 SHH 6469 HP:0000322 Short philtrum OMIM:147250 SHH 6469 HP:0100789 Torus palatinus OMIM:147250 SHH 6469 HP:0000458 Anosmia OMIM:147250 SHH 6469 HP:0002650 Scoliosis OMIM:147250 SHH 6469 HP:0001256 Intellectual disability, mild OMIM:147250 SHH 6469 HP:0002916 Abnormality of chromosome segregation OMIM:147250 SHH 6469 HP:0000589 Coloboma OMIM:147250 SHH 6469 HP:0001636 Tetralogy of Fallot OMIM:147250 SHH 6469 HP:0002708 Prominent median palatal raphe OMIM:147250 SHH 6469 HP:0000252 Microcephaly OMIM:147250 SHH 6469 HP:0001360 Holoprosencephaly OMIM:147250 SHH 6469 HP:0002099 Asthma OMIM:147250 SHH 6469 HP:0003196 Short nose OMIM:147250 SHH 6469 HP:0000601 Hypotelorism OMIM:147250 SHH 6469 HP:0001250 Seizures OMIM:147250 SHH 6469 HP:0001328 Specific learning disability OMIM:147250 SHH 6469 HP:0003828 Variable expressivity OMIM:147250 SHH 6469 HP:0000821 Hypothyroidism OMIM:147250 SHH 6469 HP:0000486 Strabismus OMIM:147250 SHH 6469 HP:0100543 Cognitive impairment OMIM:147250 SHH 6469 HP:0000463 Anteverted nares OMIM:147250 SHH 6469 HP:0000062 Ambiguous genitalia OMIM:147250 SHH 6469 HP:0010804 Tented upper lip vermilion OMIM:610199 GLIS3 169792 HP:0001511 Intrauterine growth retardation OMIM:610199 GLIS3 169792 HP:0001087 Congenital glaucoma OMIM:610199 GLIS3 169792 HP:0000107 Renal cyst OMIM:610199 GLIS3 169792 HP:0000851 Congenital hypothyroidism OMIM:610199 GLIS3 169792 HP:0000819 Diabetes mellitus OMIM:610199 GLIS3 169792 HP:0001396 Cholestasis OMIM:610199 GLIS3 169792 HP:0000007 Autosomal recessive inheritance OMIM:188030 FCGR2C 9103 HP:0000006 Autosomal dominant inheritance OMIM:188030 FCGR2C 9103 HP:0001873 Thrombocytopenia OMIM:188030 FCGR2C 9103 HP:0003454 Platelet antibody positive OMIM:188030 FCGR2C 9103 HP:0001892 Abnormal bleeding OMIM:222300 WFS1 7466 HP:0000407 Sensorineural hearing impairment OMIM:222300 WFS1 7466 HP:0000126 Hydronephrosis OMIM:222300 WFS1 7466 HP:0002015 Dysphagia OMIM:222300 WFS1 7466 HP:0000648 Optic atrophy OMIM:222300 WFS1 7466 HP:0000580 Pigmentary retinopathy OMIM:222300 WFS1 7466 HP:0001924 Sideroblastic anemia OMIM:222300 WFS1 7466 HP:0000708 Behavioral abnormality OMIM:222300 WFS1 7466 HP:0001249 Intellectual disability OMIM:222300 WFS1 7466 HP:0000819 Diabetes mellitus OMIM:222300 WFS1 7466 HP:0001250 Seizures OMIM:222300 WFS1 7466 HP:0001337 Tremor OMIM:222300 WFS1 7466 HP:0000029 Testicular atrophy OMIM:222300 WFS1 7466 HP:0000508 Ptosis OMIM:222300 WFS1 7466 HP:0000821 Hypothyroidism OMIM:222300 WFS1 7466 HP:0001889 Megaloblastic anemia OMIM:222300 WFS1 7466 HP:0001638 Cardiomyopathy OMIM:222300 WFS1 7466 HP:0000639 Nystagmus OMIM:222300 WFS1 7466 HP:0001873 Thrombocytopenia OMIM:222300 WFS1 7466 HP:0000072 Hydroureter OMIM:222300 WFS1 7466 HP:0006217 Limited mobility of proximal interphalangeal joint OMIM:222300 WFS1 7466 HP:0000007 Autosomal recessive inheritance OMIM:222300 WFS1 7466 HP:0001251 Ataxia OMIM:222300 WFS1 7466 HP:0002059 Cerebral atrophy OMIM:222300 WFS1 7466 HP:0002401 Stroke-like episodes OMIM:222300 WFS1 7466 HP:0001260 Dysarthria OMIM:222300 WFS1 7466 HP:0000011 Neurogenic bladder OMIM:222300 WFS1 7466 HP:0000873 Diabetes insipidus OMIM:222300 WFS1 7466 HP:0001510 Growth delay OMIM:602459 POU4F3 5459 HP:0000006 Autosomal dominant inheritance OMIM:602459 POU4F3 5459 HP:0000365 Hearing impairment OMIM:169500 LMNB1 4001 HP:0007371 Corpus callosum atrophy OMIM:169500 LMNB1 4001 HP:0001276 Hypertonia OMIM:169500 LMNB1 4001 HP:0007480 Decreased sweating due to autonomic dysfunction OMIM:169500 LMNB1 4001 HP:0000079 Abnormality of the urinary system OMIM:169500 LMNB1 4001 HP:0008872 Feeding difficulties in infancy OMIM:169500 LMNB1 4001 HP:0006994 Diffuse leukoencephalopathy OMIM:169500 LMNB1 4001 HP:0001337 Tremor OMIM:169500 LMNB1 4001 HP:0001251 Ataxia OMIM:169500 LMNB1 4001 HP:0005341 Autonomic bladder dysfunction OMIM:169500 LMNB1 4001 HP:0003487 Babinski sign OMIM:169500 LMNB1 4001 HP:0000639 Nystagmus OMIM:169500 LMNB1 4001 HP:0001288 Gait disturbance OMIM:169500 LMNB1 4001 HP:0007024 Pseudobulbar paralysis OMIM:169500 LMNB1 4001 HP:0000365 Hearing impairment OMIM:169500 LMNB1 4001 HP:0003581 Adult onset OMIM:169500 LMNB1 4001 HP:0000006 Autosomal dominant inheritance OMIM:169500 LMNB1 4001 HP:0003676 Progressive disorder OMIM:169500 LMNB1 4001 HP:0000505 Visual impairment OMIM:169500 LMNB1 4001 HP:0002019 Constipation OMIM:169500 LMNB1 4001 HP:0001257 Spasticity OMIM:169500 LMNB1 4001 HP:0001347 Hyperreflexia OMIM:169500 LMNB1 4001 HP:0002120 Cerebral cortical atrophy OMIM:169500 LMNB1 4001 HP:0002311 Incoordination OMIM:169500 LMNB1 4001 HP:0002344 Progressive neurologic deterioration OMIM:169500 LMNB1 4001 HP:0002916 Abnormality of chromosome segregation OMIM:169500 LMNB1 4001 HP:0002415 Leukodystrophy OMIM:169500 LMNB1 4001 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:169500 LMNB1 4001 HP:0100543 Cognitive impairment OMIM:169500 LMNB1 4001 HP:0008652 Autonomic erectile dysfunction OMIM:169500 LMNB1 4001 HP:0000966 Hypohidrosis OMIM:169500 LMNB1 4001 HP:0002615 Hypotension OMIM:169500 LMNB1 4001 HP:0004926 Orthostatic hypotension due to autonomic dysfunction OMIM:169500 LMNB1 4001 HP:0000802 Impotence OMIM:169500 LMNB1 4001 HP:0002171 Gliosis OMIM:169500 LMNB1 4001 HP:0007262 Symmetric peripheral demyelination OMIM:169500 LMNB1 4001 HP:0000751 Personality changes OMIM:169500 LMNB1 4001 HP:0002167 Neurological speech impairment OMIM:614066 AP4B1 10717 HP:0000007 Autosomal recessive inheritance OMIM:614066 AP4B1 10717 HP:0010864 Intellectual disability, severe OMIM:614066 AP4B1 10717 HP:0001763 Pes planus OMIM:614066 AP4B1 10717 HP:0000252 Microcephaly OMIM:614066 AP4B1 10717 HP:0001260 Dysarthria OMIM:614066 AP4B1 10717 HP:0000750 Delayed speech and language development OMIM:614066 AP4B1 10717 HP:0001263 Global developmental delay OMIM:614066 AP4B1 10717 HP:0001347 Hyperreflexia OMIM:614066 AP4B1 10717 HP:0001258 Spastic paraplegia OMIM:614066 AP4B1 10717 HP:0004322 Short stature OMIM:614066 AP4B1 10717 HP:0003677 Slow progression OMIM:614066 AP4B1 10717 HP:0003487 Babinski sign OMIM:614066 AP4B1 10717 HP:0003577 Congenital onset OMIM:614066 AP4B1 10717 HP:0002816 Genu recurvatum OMIM:614066 AP4B1 10717 HP:0002518 Abnormality of the periventricular white matter OMIM:614066 AP4B1 10717 HP:0002079 Hypoplasia of the corpus callosum OMIM:614066 AP4B1 10717 HP:0000431 Wide nasal bridge OMIM:614066 AP4B1 10717 HP:0002515 Waddling gait OMIM:614066 AP4B1 10717 HP:0000218 High palate OMIM:614066 AP4B1 10717 HP:0001332 Dystonia OMIM:614066 AP4B1 10717 HP:0001319 Neonatal hypotonia ORPHANET:231242 HBB 3043 HP:0001935 Microcytic anemia ORPHANET:231242 HBB 3043 HP:0010472 Abnormality of the heme biosynthetic pathway ORPHANET:231242 HBB 3043 HP:0001744 Splenomegaly OMIM:176310 PBX1 5087 HP:0004812 Pre-B-cell acute lymphoblastic leukemia OMIM:608089 MSH6 2956 HP:0012114 Endometrial carcinoma OMIM:608089 PTEN 5728 HP:0012114 Endometrial carcinoma OMIM:608089 CDH1 999 HP:0012114 Endometrial carcinoma OMIM:211900 KL 9365 HP:0005571 Increased renal tubular phosphate reabsorption OMIM:211900 KL 9365 HP:0000951 Abnormality of the skin OMIM:211900 KL 9365 HP:0000121 Nephrocalcinosis OMIM:211900 KL 9365 HP:0000679 Taurodontia OMIM:211900 KL 9365 HP:0003771 Pulp stones OMIM:211900 KL 9365 HP:0007799 Conjunctival whitish salt-like deposits OMIM:211900 KL 9365 HP:0006297 Hypoplasia of dental enamel OMIM:211900 KL 9365 HP:0003761 Calcinosis OMIM:211900 KL 9365 HP:0000007 Autosomal recessive inheritance OMIM:211900 KL 9365 HP:0002905 Hyperphosphatemia OMIM:211900 KL 9365 HP:0005572 Decreased renal tubular phosphate excretion OMIM:211900 KL 9365 HP:0003621 Juvenile onset OMIM:211900 KL 9365 HP:0004934 Vascular calcification OMIM:211900 KL 9365 HP:0001102 Angioid streaks of the retina OMIM:211900 GALNT3 2591 HP:0005571 Increased renal tubular phosphate reabsorption OMIM:211900 GALNT3 2591 HP:0000951 Abnormality of the skin OMIM:211900 GALNT3 2591 HP:0000121 Nephrocalcinosis OMIM:211900 GALNT3 2591 HP:0000679 Taurodontia OMIM:211900 GALNT3 2591 HP:0003771 Pulp stones OMIM:211900 GALNT3 2591 HP:0007799 Conjunctival whitish salt-like deposits OMIM:211900 GALNT3 2591 HP:0006297 Hypoplasia of dental enamel OMIM:211900 GALNT3 2591 HP:0003761 Calcinosis OMIM:211900 GALNT3 2591 HP:0000007 Autosomal recessive inheritance OMIM:211900 GALNT3 2591 HP:0002905 Hyperphosphatemia OMIM:211900 GALNT3 2591 HP:0005572 Decreased renal tubular phosphate excretion OMIM:211900 GALNT3 2591 HP:0003621 Juvenile onset OMIM:211900 GALNT3 2591 HP:0004934 Vascular calcification OMIM:211900 GALNT3 2591 HP:0001102 Angioid streaks of the retina OMIM:211900 FGF23 8074 HP:0005571 Increased renal tubular phosphate reabsorption OMIM:211900 FGF23 8074 HP:0000951 Abnormality of the skin OMIM:211900 FGF23 8074 HP:0000121 Nephrocalcinosis OMIM:211900 FGF23 8074 HP:0000679 Taurodontia OMIM:211900 FGF23 8074 HP:0003771 Pulp stones OMIM:211900 FGF23 8074 HP:0007799 Conjunctival whitish salt-like deposits OMIM:211900 FGF23 8074 HP:0006297 Hypoplasia of dental enamel OMIM:211900 FGF23 8074 HP:0003761 Calcinosis OMIM:211900 FGF23 8074 HP:0000007 Autosomal recessive inheritance OMIM:211900 FGF23 8074 HP:0002905 Hyperphosphatemia OMIM:211900 FGF23 8074 HP:0005572 Decreased renal tubular phosphate excretion OMIM:211900 FGF23 8074 HP:0003621 Juvenile onset OMIM:211900 FGF23 8074 HP:0004934 Vascular calcification OMIM:211900 FGF23 8074 HP:0001102 Angioid streaks of the retina OMIM:615960 LAMA1 284217 HP:0001252 Muscular hypotonia OMIM:615960 LAMA1 284217 HP:0002518 Abnormality of the periventricular white matter OMIM:615960 LAMA1 284217 HP:0000750 Delayed speech and language development OMIM:615960 LAMA1 284217 HP:0000556 Retinal dystrophy OMIM:615960 LAMA1 284217 HP:0001270 Motor delay OMIM:615960 LAMA1 284217 HP:0001320 Cerebellar vermis hypoplasia OMIM:615960 LAMA1 284217 HP:0030329 Retinal thinning OMIM:615960 LAMA1 284217 HP:0000639 Nystagmus OMIM:615960 LAMA1 284217 HP:0007033 Cerebellar dysplasia OMIM:615960 LAMA1 284217 HP:0002350 Cerebellar cyst OMIM:615960 LAMA1 284217 HP:0000486 Strabismus OMIM:615960 LAMA1 284217 HP:0002198 Dilated fourth ventricle OMIM:615960 LAMA1 284217 HP:0000545 Myopia OMIM:615960 LAMA1 284217 HP:0000657 Oculomotor apraxia OMIM:615960 LAMA1 284217 HP:0001105 Retinal atrophy OMIM:615960 LAMA1 284217 HP:0000007 Autosomal recessive inheritance OMIM:615960 LAMA1 284217 HP:0000646 Amblyopia OMIM:609820 EGLN1 54583 HP:0000006 Autosomal dominant inheritance OMIM:609820 EGLN1 54583 HP:0001900 Increased hemoglobin OMIM:609820 EGLN1 54583 HP:0001899 Increased hematocrit OMIM:609820 EGLN1 54583 HP:0001898 Increased red blood cell mass OMIM:309400 ATP7A 538 HP:0000974 Hyperextensible skin OMIM:309400 ATP7A 538 HP:0004349 Reduced bone mineral density OMIM:309400 ATP7A 538 HP:0001511 Intrauterine growth retardation OMIM:309400 ATP7A 538 HP:0002017 Nausea and vomiting OMIM:309400 ATP7A 538 HP:0100777 Exostoses OMIM:309400 ATP7A 538 HP:0008070 Sparse hair OMIM:309400 ATP7A 538 HP:0001392 Abnormality of the liver OMIM:309400 ATP7A 538 HP:0001943 Hypoglycemia OMIM:309400 ATP7A 538 HP:0001276 Hypertonia OMIM:309400 ATP7A 538 HP:0000271 Abnormality of the face OMIM:309400 ATP7A 538 HP:0002024 Malabsorption OMIM:309400 ATP7A 538 HP:0002224 Woolly hair OMIM:309400 ATP7A 538 HP:0002754 Osteomyelitis OMIM:309400 ATP7A 538 HP:0001252 Muscular hypotonia OMIM:309400 ATP7A 538 HP:0000973 Cutis laxa OMIM:309400 ATP7A 538 HP:0000767 Pectus excavatum OMIM:309400 ATP7A 538 HP:0001419 X-linked recessive inheritance OMIM:309400 ATP7A 538 HP:0000934 Chondrocalcinosis OMIM:309400 ATP7A 538 HP:0000293 Full cheeks OMIM:309400 ATP7A 538 HP:0001010 Hypopigmentation of the skin OMIM:309400 ATP7A 538 HP:0000252 Microcephaly OMIM:309400 ATP7A 538 HP:0000269 Prominent occiput OMIM:309400 ATP7A 538 HP:0002239 Gastrointestinal hemorrhage OMIM:309400 ATP7A 538 HP:0008872 Feeding difficulties in infancy OMIM:309400 ATP7A 538 HP:0000987 Atypical scarring of skin OMIM:309400 ATP7A 538 HP:0001249 Intellectual disability OMIM:309400 ATP7A 538 HP:0006487 Bowing of the long bones OMIM:309400 ATP7A 538 HP:0002617 Aneurysm OMIM:309400 ATP7A 538 HP:0002645 Wormian bones OMIM:309400 ATP7A 538 HP:0003016 Metaphyseal widening OMIM:309400 ATP7A 538 HP:0005344 Abnormality of the carotid arteries OMIM:309400 ATP7A 538 HP:0100545 Arterial stenosis OMIM:309400 ATP7A 538 HP:0000248 Brachycephaly OMIM:309400 ATP7A 538 HP:0001537 Umbilical hernia OMIM:309400 ATP7A 538 HP:0100543 Cognitive impairment OMIM:309400 ATP7A 538 HP:0002170 Intracranial hemorrhage OMIM:309400 ATP7A 538 HP:0005293 Venous insufficiency OMIM:309400 ATP7A 538 HP:0000958 Dry skin OMIM:309400 ATP7A 538 HP:0000298 Mask-like facies OMIM:309400 ATP7A 538 HP:0000939 Osteoporosis OMIM:309400 ATP7A 538 HP:0000174 Abnormality of the palate OMIM:309400 ATP7A 538 HP:0002757 Recurrent fractures OMIM:309400 ATP7A 538 HP:0002376 Developmental regression OMIM:309400 ATP7A 538 HP:0007420 Spontaneous hematomas OMIM:309400 ATP7A 538 HP:0001388 Joint laxity OMIM:309400 ATP7A 538 HP:0004322 Short stature OMIM:309400 ATP7A 538 HP:0001324 Muscle weakness OMIM:309400 ATP7A 538 HP:0000015 Bladder diverticulum OMIM:309400 ATP7A 538 HP:0002072 Chorea OMIM:309400 ATP7A 538 HP:0002045 Hypothermia OMIM:309400 ATP7A 538 HP:0008368 Tarsal synostosis OMIM:309400 ATP7A 538 HP:0000774 Narrow chest OMIM:309400 ATP7A 538 HP:0011362 Abnormal hair quantity OMIM:309400 ATP7A 538 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature OMIM:309400 ATP7A 538 HP:0005054 Metaphyseal spurs OMIM:309400 ATP7A 538 HP:0001072 Thickened skin OMIM:309400 ATP7A 538 HP:0001382 Joint hypermobility OMIM:309400 ATP7A 538 HP:0100806 Sepsis OMIM:309400 ATP7A 538 HP:0000708 Behavioral abnormality OMIM:309400 ATP7A 538 HP:0000347 Micrognathia OMIM:309400 ATP7A 538 HP:0001250 Seizures OMIM:309400 ATP7A 538 HP:0005599 Hypopigmentation of hair OMIM:309400 ATP7A 538 HP:0003819 Death in childhood OMIM:609981 MCM4 4173 HP:0008897 Postnatal growth retardation OMIM:609981 MCM4 4173 HP:0005523 Lymphoproliferative disorder OMIM:609981 MCM4 4173 HP:0002716 Lymphadenopathy OMIM:609981 MCM4 4173 HP:0001744 Splenomegaly OMIM:609981 MCM4 4173 HP:0004429 Recurrent viral infections OMIM:609981 MCM4 4173 HP:0002205 Recurrent respiratory infections OMIM:609981 MCM4 4173 HP:0000846 Adrenal insufficiency OMIM:609981 MCM4 4173 HP:0002878 Respiratory failure OMIM:609981 MCM4 4173 HP:0000007 Autosomal recessive inheritance OMIM:609981 MCM4 4173 HP:0001511 Intrauterine growth retardation OMIM:609981 MCM4 4173 HP:0000252 Microcephaly OMIM:609981 MCM4 4173 HP:0002240 Hepatomegaly OMIM:133701 EXT2 2132 HP:0003276 Pelvic bone exostoses OMIM:133701 EXT2 2132 HP:0002857 Genu valgum OMIM:133701 EXT2 2132 HP:0000918 Scapular exostoses OMIM:133701 EXT2 2132 HP:0003621 Juvenile onset OMIM:133701 EXT2 2132 HP:0002318 Cervical myelopathy OMIM:133701 EXT2 2132 HP:0006765 Chondrosarcoma OMIM:133701 EXT2 2132 HP:0003068 Madelung-like forearm deformities OMIM:133701 EXT2 2132 HP:0002812 Coxa vara OMIM:133701 EXT2 2132 HP:0003105 Protuberances at ends of long bones OMIM:133701 EXT2 2132 HP:0000896 Rib exostoses OMIM:133701 EXT2 2132 HP:0010049 Short metacarpal OMIM:133701 EXT2 2132 HP:0000006 Autosomal dominant inheritance OMIM:133701 EXT2 2132 HP:0003406 Peripheral nerve compression OMIM:133701 EXT2 2132 HP:0004322 Short stature OMIM:600858 PRKAG2 51422 HP:0001716 Wolff-Parkinson-White syndrome OMIM:600858 PRKAG2 51422 HP:0011713 Left bundle branch block OMIM:600858 PRKAG2 51422 HP:0000006 Autosomal dominant inheritance OMIM:600858 PRKAG2 51422 HP:0004309 Ventricular preexcitation OMIM:600858 PRKAG2 51422 HP:0001678 Atrioventricular block OMIM:600858 PRKAG2 51422 HP:0001688 Sinus bradycardia OMIM:600858 PRKAG2 51422 HP:0001670 Asymmetric septal hypertrophy OMIM:600858 PRKAG2 51422 HP:0001639 Hypertrophic cardiomyopathy OMIM:600858 PRKAG2 51422 HP:0005110 Atrial fibrillation OMIM:608030 FUS 2521 HP:0007126 Proximal amyotrophy OMIM:608030 FUS 2521 HP:0002529 Neuronal loss in central nervous system OMIM:608030 FUS 2521 HP:0002380 Fasciculations OMIM:608030 FUS 2521 HP:0001265 Hyporeflexia OMIM:608030 FUS 2521 HP:0007354 Amyotrophic lateral sclerosis OMIM:608030 FUS 2521 HP:0000006 Autosomal dominant inheritance OMIM:608030 FUS 2521 HP:0001288 Gait disturbance OMIM:615190 RTEL1 51750 HP:0001321 Cerebellar hypoplasia OMIM:615190 RTEL1 51750 HP:0001511 Intrauterine growth retardation OMIM:615190 RTEL1 51750 HP:0000252 Microcephaly OMIM:615190 RTEL1 51750 HP:0008404 Nail dystrophy OMIM:615190 RTEL1 51750 HP:0005528 Bone marrow hypocellularity OMIM:615190 RTEL1 51750 HP:0001263 Global developmental delay OMIM:615190 RTEL1 51750 HP:0008897 Postnatal growth retardation OMIM:615190 RTEL1 51750 HP:0000007 Autosomal recessive inheritance ORPHANET:2136 CCBE1 147372 HP:0001697 Abnormality of the pericardium ORPHANET:2136 CCBE1 147372 HP:0011069 Increased number of teeth ORPHANET:2136 CCBE1 147372 HP:0000405 Conductive hearing impairment ORPHANET:2136 CCBE1 147372 HP:0005280 Depressed nasal bridge ORPHANET:2136 CCBE1 147372 HP:0002021 Pyloric stenosis ORPHANET:2136 CCBE1 147372 HP:0000684 Delayed eruption of teeth ORPHANET:2136 CCBE1 147372 HP:0001363 Craniosynostosis ORPHANET:2136 CCBE1 147372 HP:0001541 Ascites ORPHANET:2136 CCBE1 147372 HP:0001789 Hydrops fetalis ORPHANET:2136 CCBE1 147372 HP:0002024 Malabsorption ORPHANET:2136 CCBE1 147372 HP:0000322 Short philtrum ORPHANET:2136 CCBE1 147372 HP:0100835 Benign neoplasm of the central nervous system ORPHANET:2136 CCBE1 147372 HP:0100026 Arteriovenous malformation ORPHANET:2136 CCBE1 147372 HP:0001760 Abnormality of the foot ORPHANET:2136 CCBE1 147372 HP:0002716 Lymphadenopathy ORPHANET:2136 CCBE1 147372 HP:0002269 Abnormality of neuronal migration ORPHANET:2136 CCBE1 147372 HP:0002093 Respiratory insufficiency ORPHANET:2136 CCBE1 147372 HP:0002103 Abnormality of the pleura ORPHANET:2136 CCBE1 147372 HP:0000286 Epicanthus ORPHANET:2136 CCBE1 147372 HP:0100490 Camptodactyly of finger ORPHANET:2136 CCBE1 147372 HP:0001250 Seizures ORPHANET:2136 CCBE1 147372 HP:0008572 External ear malformation ORPHANET:2136 CCBE1 147372 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2136 CCBE1 147372 HP:0009804 Reduced number of teeth ORPHANET:2136 CCBE1 147372 HP:0002901 Hypocalcemia ORPHANET:2136 CCBE1 147372 HP:0000501 Glaucoma ORPHANET:2136 CCBE1 147372 HP:0004313 Hypogammaglobulinemia ORPHANET:2136 CCBE1 147372 HP:0000272 Malar flattening ORPHANET:2136 CCBE1 147372 HP:0000774 Narrow chest ORPHANET:2136 CCBE1 147372 HP:0000316 Hypertelorism ORPHANET:2136 CCBE1 147372 HP:0100764 Lymphangioma ORPHANET:2136 CCBE1 147372 HP:0006101 Finger syndactyly ORPHANET:2136 CCBE1 147372 HP:0006482 Abnormality of dental morphology ORPHANET:2136 CCBE1 147372 HP:0100543 Cognitive impairment ORPHANET:2136 CCBE1 147372 HP:0001888 Lymphopenia ORPHANET:2136 CCBE1 147372 HP:0100542 Abnormal localization of kidney ORPHANET:2136 CCBE1 147372 HP:0000337 Broad forehead ORPHANET:2136 CCBE1 147372 HP:0000212 Gingival overgrowth ORPHANET:2136 CCBE1 147372 HP:0000160 Narrow mouth ORPHANET:2136 CCBE1 147372 HP:0001055 Erysipelas ORPHANET:2136 CCBE1 147372 HP:0002205 Recurrent respiratory infections ORPHANET:2136 CCBE1 147372 HP:0000347 Micrognathia ORPHANET:2136 CCBE1 147372 HP:0000078 Abnormality of the genital system ORPHANET:2136 CCBE1 147372 HP:0001004 Lymphedema ORPHANET:2136 CCBE1 147372 HP:0001744 Splenomegaly ORPHANET:2136 FAT4 79633 HP:0001697 Abnormality of the pericardium ORPHANET:2136 FAT4 79633 HP:0011069 Increased number of teeth ORPHANET:2136 FAT4 79633 HP:0000405 Conductive hearing impairment ORPHANET:2136 FAT4 79633 HP:0005280 Depressed nasal bridge ORPHANET:2136 FAT4 79633 HP:0002021 Pyloric stenosis ORPHANET:2136 FAT4 79633 HP:0000684 Delayed eruption of teeth ORPHANET:2136 FAT4 79633 HP:0001363 Craniosynostosis ORPHANET:2136 FAT4 79633 HP:0001541 Ascites ORPHANET:2136 FAT4 79633 HP:0001789 Hydrops fetalis ORPHANET:2136 FAT4 79633 HP:0002024 Malabsorption ORPHANET:2136 FAT4 79633 HP:0000322 Short philtrum ORPHANET:2136 FAT4 79633 HP:0100835 Benign neoplasm of the central nervous system ORPHANET:2136 FAT4 79633 HP:0100026 Arteriovenous malformation ORPHANET:2136 FAT4 79633 HP:0001760 Abnormality of the foot ORPHANET:2136 FAT4 79633 HP:0002716 Lymphadenopathy ORPHANET:2136 FAT4 79633 HP:0002269 Abnormality of neuronal migration ORPHANET:2136 FAT4 79633 HP:0002093 Respiratory insufficiency ORPHANET:2136 FAT4 79633 HP:0002103 Abnormality of the pleura ORPHANET:2136 FAT4 79633 HP:0000286 Epicanthus ORPHANET:2136 FAT4 79633 HP:0100490 Camptodactyly of finger ORPHANET:2136 FAT4 79633 HP:0001250 Seizures ORPHANET:2136 FAT4 79633 HP:0008572 External ear malformation ORPHANET:2136 FAT4 79633 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2136 FAT4 79633 HP:0009804 Reduced number of teeth ORPHANET:2136 FAT4 79633 HP:0002901 Hypocalcemia ORPHANET:2136 FAT4 79633 HP:0000501 Glaucoma ORPHANET:2136 FAT4 79633 HP:0004313 Hypogammaglobulinemia ORPHANET:2136 FAT4 79633 HP:0000272 Malar flattening ORPHANET:2136 FAT4 79633 HP:0000774 Narrow chest ORPHANET:2136 FAT4 79633 HP:0000316 Hypertelorism ORPHANET:2136 FAT4 79633 HP:0100764 Lymphangioma ORPHANET:2136 FAT4 79633 HP:0006101 Finger syndactyly ORPHANET:2136 FAT4 79633 HP:0006482 Abnormality of dental morphology ORPHANET:2136 FAT4 79633 HP:0100543 Cognitive impairment ORPHANET:2136 FAT4 79633 HP:0001888 Lymphopenia ORPHANET:2136 FAT4 79633 HP:0100542 Abnormal localization of kidney ORPHANET:2136 FAT4 79633 HP:0000337 Broad forehead ORPHANET:2136 FAT4 79633 HP:0000212 Gingival overgrowth ORPHANET:2136 FAT4 79633 HP:0000160 Narrow mouth ORPHANET:2136 FAT4 79633 HP:0001055 Erysipelas ORPHANET:2136 FAT4 79633 HP:0002205 Recurrent respiratory infections ORPHANET:2136 FAT4 79633 HP:0000347 Micrognathia ORPHANET:2136 FAT4 79633 HP:0000078 Abnormality of the genital system ORPHANET:2136 FAT4 79633 HP:0001004 Lymphedema ORPHANET:2136 FAT4 79633 HP:0001744 Splenomegaly OMIM:614521 JAK2 3717 HP:0001894 Thrombocytosis OMIM:614521 JAK2 3717 HP:0000006 Autosomal dominant inheritance OMIM:614521 JAK2 3717 HP:0001428 Somatic mutation OMIM:139090 NBEAL2 23218 HP:0001873 Thrombocytopenia OMIM:139090 NBEAL2 23218 HP:0008330 Reduced von Willebrand factor activity OMIM:139090 NBEAL2 23218 HP:0000006 Autosomal dominant inheritance OMIM:139090 NBEAL2 23218 HP:0012147 Reduced quantity of Von Willebrand factor OMIM:139090 NBEAL2 23218 HP:0000007 Autosomal recessive inheritance OMIM:139090 NBEAL2 23218 HP:0000978 Bruising susceptibility OMIM:139090 NBEAL2 23218 HP:0003010 Prolonged bleeding time OMIM:139090 NBEAL2 23218 HP:0011872 Impaired thrombin-induced platelet aggregation OMIM:139090 NBEAL2 23218 HP:0003676 Progressive disorder OMIM:139090 NBEAL2 23218 HP:0008320 Impaired collagen-induced platelet aggregation OMIM:139090 NBEAL2 23218 HP:0011974 Myelofibrosis OMIM:139090 NBEAL2 23218 HP:0000132 Menorrhagia OMIM:139090 NBEAL2 23218 HP:0000421 Epistaxis OMIM:139090 NBEAL2 23218 HP:0001744 Splenomegaly OMIM:168820 PON1 5444 HP:0001939 Abnormality of metabolism/homeostasis OMIM:168820 PON1 5444 HP:0000006 Autosomal dominant inheritance OMIM:613027 PHKG2 5261 HP:0001252 Muscular hypotonia OMIM:613027 PHKG2 5261 HP:0001408 Bile duct proliferation OMIM:613027 PHKG2 5261 HP:0001510 Growth delay OMIM:613027 PHKG2 5261 HP:0002155 Hypertriglyceridemia OMIM:613027 PHKG2 5261 HP:0003128 Lactic acidosis OMIM:613027 PHKG2 5261 HP:0002910 Elevated hepatic transaminases OMIM:613027 PHKG2 5261 HP:0001744 Splenomegaly OMIM:613027 PHKG2 5261 HP:0000007 Autosomal recessive inheritance OMIM:613027 PHKG2 5261 HP:0001270 Motor delay OMIM:613027 PHKG2 5261 HP:0001394 Cirrhosis OMIM:613027 PHKG2 5261 HP:0003593 Infantile onset OMIM:613027 PHKG2 5261 HP:0002240 Hepatomegaly OMIM:613027 PHKG2 5261 HP:0003162 Fasting hypoglycemia OMIM:613027 PHKG2 5261 HP:0001946 Ketosis OMIM:159001 LMNA 4000 HP:0002355 Difficulty walking OMIM:159001 LMNA 4000 HP:0001692 Primary atrial arrhythmia OMIM:159001 LMNA 4000 HP:0003551 Difficulty climbing stairs OMIM:159001 LMNA 4000 HP:0000006 Autosomal dominant inheritance OMIM:159001 LMNA 4000 HP:0001371 Flexion contracture OMIM:159001 LMNA 4000 HP:0008946 Pelvic girdle amyotrophy OMIM:159001 LMNA 4000 HP:0001662 Bradycardia OMIM:159001 LMNA 4000 HP:0003677 Slow progression OMIM:159001 LMNA 4000 HP:0003749 Pelvic girdle muscle weakness OMIM:159001 LMNA 4000 HP:0003458 EMG: myopathic abnormalities OMIM:159001 LMNA 4000 HP:0001645 Sudden cardiac death OMIM:159001 LMNA 4000 HP:0003560 Muscular dystrophy OMIM:159001 LMNA 4000 HP:0001644 Dilated cardiomyopathy OMIM:159001 LMNA 4000 HP:0003547 Shoulder girdle muscle weakness OMIM:159001 LMNA 4000 HP:0005150 Abnormal atrioventricular conduction OMIM:159001 LMNA 4000 HP:0003236 Elevated serum creatine phosphokinase OMIM:610370 NEUROG3 50674 HP:0003623 Neonatal onset OMIM:610370 NEUROG3 50674 HP:0000007 Autosomal recessive inheritance OMIM:610370 NEUROG3 50674 HP:0001508 Failure to thrive OMIM:610370 NEUROG3 50674 HP:0002014 Diarrhea OMIM:610370 NEUROG3 50674 HP:0002013 Vomiting OMIM:610370 NEUROG3 50674 HP:0004918 Hyperchloremic metabolic acidosis OMIM:610370 NEUROG3 50674 HP:0001944 Dehydration OMIM:245200 GALC 2581 HP:0000639 Nystagmus OMIM:245200 GALC 2581 HP:0000762 Decreased nerve conduction velocity OMIM:245200 GALC 2581 HP:0000648 Optic atrophy OMIM:245200 GALC 2581 HP:0007928 Abnormal flash visual evoked potentials OMIM:245200 GALC 2581 HP:0001508 Failure to thrive OMIM:245200 GALC 2581 HP:0000618 Blindness OMIM:245200 GALC 2581 HP:0002506 Diffuse cerebral atrophy OMIM:245200 GALC 2581 HP:0007141 Sensorimotor neuropathy OMIM:245200 GALC 2581 HP:0011096 Peripheral demyelination OMIM:245200 GALC 2581 HP:0001954 Episodic fever OMIM:245200 GALC 2581 HP:0001250 Seizures OMIM:245200 GALC 2581 HP:0007305 CNS demyelination OMIM:245200 GALC 2581 HP:0000007 Autosomal recessive inheritance OMIM:245200 GALC 2581 HP:0002191 Progressive spasticity OMIM:245200 GALC 2581 HP:0001276 Hypertonia OMIM:245200 GALC 2581 HP:0002376 Developmental regression OMIM:245200 GALC 2581 HP:0002333 Motor deterioration OMIM:245200 GALC 2581 HP:0002353 EEG abnormality OMIM:245200 GALC 2581 HP:0002922 Increased CSF protein OMIM:245200 GALC 2581 HP:0002013 Vomiting OMIM:245200 GALC 2581 HP:0002180 Neurodegeneration OMIM:245200 GALC 2581 HP:0001973 Autoimmune thrombocytopenia OMIM:245200 GALC 2581 HP:0000238 Hydrocephalus OMIM:245200 GALC 2581 HP:0006801 Hyperactive deep tendon reflexes OMIM:245200 GALC 2581 HP:0001252 Muscular hypotonia OMIM:245200 GALC 2581 HP:0000365 Hearing impairment OMIM:602088 INVS 27130 HP:0001696 Situs inversus totalis OMIM:602088 INVS 27130 HP:0005976 Hyperkalemic metabolic acidosis OMIM:602088 INVS 27130 HP:0000007 Autosomal recessive inheritance OMIM:602088 INVS 27130 HP:0002089 Pulmonary hypoplasia OMIM:602088 INVS 27130 HP:0003774 Stage 5 chronic kidney disease OMIM:602088 INVS 27130 HP:0010444 Pulmonary insufficiency OMIM:602088 INVS 27130 HP:0002878 Respiratory failure OMIM:602088 INVS 27130 HP:0005564 Absence of renal corticomedullary differentiation OMIM:602088 INVS 27130 HP:0004734 Renal cortical microcysts OMIM:602088 INVS 27130 HP:0004743 Chronic tubulointerstitial nephritis OMIM:602088 INVS 27130 HP:0000105 Enlarged kidneys OMIM:602088 INVS 27130 HP:0002153 Hyperkalemia OMIM:602088 INVS 27130 HP:0000822 Hypertension OMIM:602088 INVS 27130 HP:0004719 Hyperechogenic kidneys OMIM:602088 INVS 27130 HP:0001562 Oligohydramnios OMIM:602088 INVS 27130 HP:0003259 Elevated serum creatinine OMIM:602088 INVS 27130 HP:0000090 Nephronophthisis OMIM:605285 HK1 3098 HP:0001265 Hyporeflexia OMIM:605285 HK1 3098 HP:0003387 Decreased number of large peripheral myelinated nerve fibers OMIM:605285 HK1 3098 HP:0001760 Abnormality of the foot OMIM:605285 HK1 3098 HP:0003676 Progressive disorder OMIM:605285 HK1 3098 HP:0002650 Scoliosis OMIM:605285 HK1 3098 HP:0007182 Peripheral hypomyelination OMIM:605285 HK1 3098 HP:0000007 Autosomal recessive inheritance OMIM:605285 HK1 3098 HP:0003431 Decreased motor nerve conduction velocity OMIM:605285 HK1 3098 HP:0009830 Peripheral neuropathy OMIM:605285 HK1 3098 HP:0002355 Difficulty walking OMIM:605285 HK1 3098 HP:0001155 Abnormality of the hand OMIM:605285 HK1 3098 HP:0002460 Distal muscle weakness OMIM:605285 HK1 3098 HP:0003450 Axonal regeneration OMIM:117300 ITM2B 9445 HP:0002185 Neurofibrillary tangles OMIM:117300 ITM2B 9445 HP:0000709 Psychosis OMIM:117300 ITM2B 9445 HP:0000365 Hearing impairment OMIM:117300 ITM2B 9445 HP:0000726 Dementia OMIM:117300 ITM2B 9445 HP:0001251 Ataxia OMIM:117300 ITM2B 9445 HP:0002080 Intention tremor OMIM:117300 ITM2B 9445 HP:0001115 Posterior polar cataract OMIM:117300 ITM2B 9445 HP:0000006 Autosomal dominant inheritance OMIM:117300 ITM2B 9445 HP:0001257 Spasticity OMIM:117300 ITM2B 9445 HP:0011970 Cerebral amyloid angiopathy OMIM:609265 CHEK2 11200 HP:0009733 Glioma OMIM:609265 CHEK2 11200 HP:0012126 Stomach cancer OMIM:609265 CHEK2 11200 HP:0000006 Autosomal dominant inheritance OMIM:609265 CHEK2 11200 HP:0002858 Meningioma OMIM:609265 CHEK2 11200 HP:0003002 Breast carcinoma OMIM:609265 CHEK2 11200 HP:0100242 Sarcoma OMIM:153650 MYH9 4627 HP:0000822 Hypertension OMIM:153650 MYH9 4627 HP:0000093 Proteinuria OMIM:153650 MYH9 4627 HP:0001873 Thrombocytopenia OMIM:153650 MYH9 4627 HP:0002907 Microscopic hematuria OMIM:153650 MYH9 4627 HP:0001902 Giant platelets OMIM:153650 MYH9 4627 HP:0001757 High-frequency sensorineural hearing impairment OMIM:153650 MYH9 4627 HP:0002239 Gastrointestinal hemorrhage OMIM:153650 MYH9 4627 HP:0000006 Autosomal dominant inheritance OMIM:153650 MYH9 4627 HP:0000518 Cataract OMIM:153650 MYH9 4627 HP:0000421 Epistaxis OMIM:153650 MYH9 4627 HP:0008619 Bilateral sensorineural hearing impairment OMIM:153650 MYH9 4627 HP:0000123 Nephritis OMIM:153650 MYH9 4627 HP:0003774 Stage 5 chronic kidney disease OMIM:604250 TFR2 7036 HP:0003281 Increased serum ferritin OMIM:604250 TFR2 7036 HP:0001394 Cirrhosis OMIM:604250 TFR2 7036 HP:0000953 Hyperpigmentation of the skin OMIM:604250 TFR2 7036 HP:0000007 Autosomal recessive inheritance OMIM:604250 TFR2 7036 HP:0000044 Hypogonadotrophic hypogonadism OMIM:604250 TFR2 7036 HP:0002910 Elevated hepatic transaminases OMIM:606002 SETX 23064 HP:0006254 Elevated alpha-fetoprotein OMIM:606002 SETX 23064 HP:0003477 Peripheral axonal neuropathy OMIM:606002 SETX 23064 HP:0002460 Distal muscle weakness OMIM:606002 SETX 23064 HP:0001265 Hyporeflexia OMIM:606002 SETX 23064 HP:0007256 Abnormal pyramidal signs OMIM:606002 SETX 23064 HP:0001152 Saccadic smooth pursuit OMIM:606002 SETX 23064 HP:0001284 Areflexia OMIM:606002 SETX 23064 HP:0003828 Variable expressivity OMIM:606002 SETX 23064 HP:0010831 Impaired proprioception OMIM:606002 SETX 23064 HP:0002346 Head tremor OMIM:606002 SETX 23064 HP:0000640 Gaze-evoked nystagmus OMIM:606002 SETX 23064 HP:0003676 Progressive disorder OMIM:606002 SETX 23064 HP:0003693 Distal amyotrophy OMIM:606002 SETX 23064 HP:0001337 Tremor OMIM:606002 SETX 23064 HP:0000007 Autosomal recessive inheritance OMIM:606002 SETX 23064 HP:0002015 Dysphagia OMIM:606002 SETX 23064 HP:0000486 Strabismus OMIM:606002 SETX 23064 HP:0002072 Chorea OMIM:606002 SETX 23064 HP:0010702 Hypergammaglobulinemia OMIM:606002 SETX 23064 HP:0007240 Progressive gait ataxia OMIM:606002 SETX 23064 HP:0000657 Oculomotor apraxia OMIM:606002 SETX 23064 HP:0001271 Polyneuropathy OMIM:606002 SETX 23064 HP:0002066 Gait ataxia OMIM:606002 SETX 23064 HP:0006886 Impaired distal vibration sensation OMIM:606002 SETX 23064 HP:0001260 Dysarthria OMIM:606002 SETX 23064 HP:0001332 Dystonia OMIM:606002 SETX 23064 HP:0006879 Pontocerebellar atrophy OMIM:606002 SETX 23064 HP:0003236 Elevated serum creatine phosphokinase OMIM:606002 SETX 23064 HP:0003431 Decreased motor nerve conduction velocity OMIM:606002 SETX 23064 HP:0001272 Cerebellar atrophy OMIM:606002 SETX 23064 HP:0001761 Pes cavus OMIM:606002 SETX 23064 HP:0000639 Nystagmus OMIM:606002 SETX 23064 HP:0000524 Conjunctival telangiectasia OMIM:606002 SETX 23064 HP:0006937 Impaired distal tactile sensation OMIM:606002 SETX 23064 HP:0002070 Limb ataxia OMIM:606002 SETX 23064 HP:0002650 Scoliosis OMIM:255125 ISCU 23479 HP:0011923 Decreased activity of mitochondrial complex I OMIM:255125 ISCU 23479 HP:0003198 Myopathy OMIM:255125 ISCU 23479 HP:0011924 Decreased activity of mitochondrial complex III OMIM:255125 ISCU 23479 HP:0008306 Abnormal iron deposition in mitochondria OMIM:255125 ISCU 23479 HP:0008314 Decreased activity of mitochondrial complex II OMIM:255125 ISCU 23479 HP:0002094 Dyspnea OMIM:255125 ISCU 23479 HP:0000007 Autosomal recessive inheritance OMIM:255125 ISCU 23479 HP:0012240 Increased intramyocellular lipid droplets OMIM:255125 ISCU 23479 HP:0003201 Rhabdomyolysis OMIM:255125 ISCU 23479 HP:0002913 Myoglobinuria OMIM:255125 ISCU 23479 HP:0003236 Elevated serum creatine phosphokinase OMIM:255125 ISCU 23479 HP:0003128 Lactic acidosis OMIM:255125 ISCU 23479 HP:0003737 Mitochondrial myopathy OMIM:255125 ISCU 23479 HP:0003548 Subsarcolemmal accumulations of abnormally shaped mitochondria OMIM:255125 ISCU 23479 HP:0001324 Muscle weakness OMIM:255125 ISCU 23479 HP:0003546 Exercise intolerance OMIM:255125 ISCU 23479 HP:0003394 Muscle cramps OMIM:255125 ISCU 23479 HP:0001924 Sideroblastic anemia OMIM:255125 ISCU 23479 HP:0001962 Palpitations OMIM:255125 ISCU 23479 HP:0003621 Juvenile onset OMIM:255125 ISCU 23479 HP:0002151 Increased serum lactate OMIM:186100 GJA1 2697 HP:0000006 Autosomal dominant inheritance OMIM:186100 GJA1 2697 HP:0001831 Short toe OMIM:186100 GJA1 2697 HP:0100490 Camptodactyly of finger OMIM:186100 GJA1 2697 HP:0010705 4-5 finger syndactyly OMIM:186100 GJA1 2697 HP:0009162 Absent middle phalanx of 5th finger OMIM:186100 GJA1 2697 HP:0009237 Short 5th finger OMIM:253010 GLB1 2720 HP:0012069 Keratan sulfate excretion in urine OMIM:253010 GLB1 2720 HP:0003016 Metaphyseal widening OMIM:253010 GLB1 2720 HP:0001388 Joint laxity OMIM:253010 GLB1 2720 HP:0008166 Decreased beta-galactosidase activity OMIM:253010 GLB1 2720 HP:0002857 Genu valgum OMIM:253010 GLB1 2720 HP:0000670 Carious teeth OMIM:253010 GLB1 2720 HP:0003053 Epiphyseal deformities of tubular bones OMIM:253010 GLB1 2720 HP:0005292 Intimal thickening in the coronary arteries OMIM:253010 GLB1 2720 HP:0000939 Osteoporosis OMIM:253010 GLB1 2720 HP:0003311 Hypoplasia of the odontoid process OMIM:253010 GLB1 2720 HP:0003049 Ulnar deviation of the wrist OMIM:253010 GLB1 2720 HP:0003307 Hyperlordosis OMIM:253010 GLB1 2720 HP:0000687 Widely spaced teeth OMIM:253010 GLB1 2720 HP:0000884 Prominent sternum OMIM:253010 GLB1 2720 HP:0000365 Hearing impairment OMIM:253010 GLB1 2720 HP:0002788 Recurrent upper respiratory tract infections OMIM:253010 GLB1 2720 HP:0001650 Aortic valve stenosis OMIM:253010 GLB1 2720 HP:0002673 Coxa valga OMIM:253010 GLB1 2720 HP:0000926 Platyspondyly OMIM:253010 GLB1 2720 HP:0003308 Cervical subluxation OMIM:253010 GLB1 2720 HP:0003521 Disproportionate short-trunk short stature OMIM:253010 GLB1 2720 HP:0002808 Kyphosis OMIM:253010 GLB1 2720 HP:0000007 Autosomal recessive inheritance OMIM:253010 GLB1 2720 HP:0003277 Constricted iliac wings OMIM:253010 GLB1 2720 HP:0000280 Coarse facial features OMIM:253010 GLB1 2720 HP:0002240 Hepatomegaly OMIM:253010 GLB1 2720 HP:0001223 Pointed proximal second through fifth metacarpals OMIM:253010 GLB1 2720 HP:0003621 Juvenile onset OMIM:253010 GLB1 2720 HP:0002091 Restrictive lung disease OMIM:253010 GLB1 2720 HP:0000154 Wide mouth OMIM:253010 GLB1 2720 HP:0007759 Opacification of the corneal stroma OMIM:253010 GLB1 2720 HP:0003300 Ovoid vertebral bodies OMIM:253010 GLB1 2720 HP:0000904 Flaring of rib cage OMIM:253010 GLB1 2720 HP:0000683 Grayish enamel OMIM:253010 GLB1 2720 HP:0000303 Mandibular prognathia OMIM:253010 GLB1 2720 HP:0002318 Cervical myelopathy OMIM:253010 GLB1 2720 HP:0002650 Scoliosis OMIM:253010 GLB1 2720 HP:0000023 Inguinal hernia OMIM:214700 SLC26A3 1811 HP:0200114 Metabolic alkalosis OMIM:214700 SLC26A3 1811 HP:0002902 Hyponatremia OMIM:214700 SLC26A3 1811 HP:0000841 Hyperactive renin-angiotensin system OMIM:214700 SLC26A3 1811 HP:0001561 Polyhydramnios OMIM:214700 SLC26A3 1811 HP:0001622 Premature birth OMIM:214700 SLC26A3 1811 HP:0001508 Failure to thrive OMIM:214700 SLC26A3 1811 HP:0001626 Abnormality of the cardiovascular system OMIM:214700 SLC26A3 1811 HP:0002014 Diarrhea OMIM:214700 SLC26A3 1811 HP:0003113 Hypochloremia OMIM:214700 SLC26A3 1811 HP:0003270 Abdominal distention OMIM:214700 SLC26A3 1811 HP:0000007 Autosomal recessive inheritance OMIM:214700 SLC26A3 1811 HP:0002900 Hypokalemia OMIM:214700 SLC26A3 1811 HP:0000859 Hyperaldosteronism OMIM:214700 SLC26A3 1811 HP:0001944 Dehydration OMIM:214700 SLC26A3 1811 HP:0001510 Growth delay OMIM:614075 HPS6 79803 HP:0011883 Abnormal platelet granules OMIM:614075 HPS6 79803 HP:0001022 Albinism OMIM:614075 HPS6 79803 HP:0001107 Ocular albinism OMIM:614075 HPS6 79803 HP:0000421 Epistaxis OMIM:614075 HPS6 79803 HP:0004866 Impaired ADP-induced platelet aggregation OMIM:614075 HPS6 79803 HP:0000007 Autosomal recessive inheritance OMIM:612847 PAPSS2 9060 HP:0002651 Spondyloepimetaphyseal dysplasia OMIM:612847 PAPSS2 9060 HP:0000007 Autosomal recessive inheritance OMIM:612847 PAPSS2 9060 HP:0000926 Platyspondyly OMIM:612847 PAPSS2 9060 HP:0001061 Acne OMIM:612847 PAPSS2 9060 HP:0001007 Hirsutism OMIM:612847 PAPSS2 9060 HP:0002979 Bowing of the legs OMIM:612847 PAPSS2 9060 HP:0004322 Short stature OMIM:612847 PAPSS2 9060 HP:0004626 Lumbar scoliosis OMIM:612847 PAPSS2 9060 HP:0002751 Kyphoscoliosis OMIM:612847 PAPSS2 9060 HP:0001156 Brachydactyly syndrome OMIM:612847 PAPSS2 9060 HP:0000869 Secondary amenorrhea OMIM:612847 PAPSS2 9060 HP:0009816 Lower limb undergrowth OMIM:612847 PAPSS2 9060 HP:0003301 Irregular vertebral endplates OMIM:606574 SLC45A2 51151 HP:0007703 Abnormal retinal pigmentation OMIM:606574 SLC45A2 51151 HP:0000639 Nystagmus OMIM:606574 SLC45A2 51151 HP:0001022 Albinism OMIM:606574 SLC45A2 51151 HP:0000613 Photophobia OMIM:606574 SLC45A2 51151 HP:0007894 Hypopigmentation of the fundus OMIM:606574 SLC45A2 51151 HP:0005599 Hypopigmentation of hair OMIM:606574 SLC45A2 51151 HP:0000505 Visual impairment OMIM:606574 SLC45A2 51151 HP:0000486 Strabismus OMIM:606574 SLC45A2 51151 HP:0008069 Neoplasm of the skin OMIM:606574 SLC45A2 51151 HP:0001104 Macular hypoplasia OMIM:606574 SLC45A2 51151 HP:0001107 Ocular albinism OMIM:606574 SLC45A2 51151 HP:0000648 Optic atrophy OMIM:606574 SLC45A2 51151 HP:0000635 Blue irides OMIM:606574 SLC45A2 51151 HP:0000007 Autosomal recessive inheritance OMIM:606574 SLC45A2 51151 HP:0007513 Generalized hypopigmentation OMIM:611788 ACTA2 59 HP:0000006 Autosomal dominant inheritance OMIM:611788 ACTA2 59 HP:0004933 Ascending aortic dissection OMIM:611788 ACTA2 59 HP:0005181 Premature coronary artery disease OMIM:611788 ACTA2 59 HP:0011834 Moyamoya phenomenon OMIM:611788 ACTA2 59 HP:0004942 Aortic aneurysm OMIM:608874 MSX1 4487 HP:0000204 Cleft upper lip OMIM:608874 MSX1 4487 HP:0000175 Cleft palate OMIM:608874 MSX1 4487 HP:0000006 Autosomal dominant inheritance OMIM:615504 CCDC65 85478 HP:0012265 Ciliary dyskinesia OMIM:615504 CCDC65 85478 HP:0000007 Autosomal recessive inheritance OMIM:615504 CCDC65 85478 HP:0002110 Bronchiectasis OMIM:615504 CCDC65 85478 HP:0012384 Rhinitis OMIM:615504 CCDC65 85478 HP:0004469 Chronic bronchitis OMIM:615504 CCDC65 85478 HP:0200073 Respiratory insufficiency due to defective ciliary clearance OMIM:615504 CCDC65 85478 HP:0000403 Recurrent otitis media OMIM:615504 CCDC65 85478 HP:0000246 Sinusitis OMIM:176270 SNRPN 6638 HP:0007874 Almond-shaped palpebral fissure OMIM:176270 SNRPN 6638 HP:0005599 Hypopigmentation of hair OMIM:176270 SNRPN 6638 HP:0001250 Seizures OMIM:176270 SNRPN 6638 HP:0000824 Growth hormone deficiency OMIM:176270 SNRPN 6638 HP:0002205 Recurrent respiratory infections OMIM:176270 SNRPN 6638 HP:0000219 Thin upper lip vermilion OMIM:176270 SNRPN 6638 HP:0007010 Poor fine motor coordination OMIM:176270 SNRPN 6638 HP:0003199 Decreased muscle mass OMIM:176270 SNRPN 6638 HP:0002791 Hypoventilation OMIM:176270 SNRPN 6638 HP:0000823 Delayed puberty OMIM:176270 SNRPN 6638 HP:0001263 Global developmental delay OMIM:176270 SNRPN 6638 HP:0002591 Polyphagia OMIM:176270 SNRPN 6638 HP:0007018 Attention deficit hyperactivity disorder OMIM:176270 SNRPN 6638 HP:0001531 Failure to thrive in infancy OMIM:176270 SNRPN 6638 HP:0004283 Narrow palm OMIM:176270 SNRPN 6638 HP:0004322 Short stature OMIM:176270 SNRPN 6638 HP:0030084 Clinodactyly OMIM:176270 SNRPN 6638 HP:0001328 Specific learning disability OMIM:176270 SNRPN 6638 HP:0007730 Iris hypopigmentation OMIM:176270 SNRPN 6638 HP:0000717 Autism OMIM:176270 SNRPN 6638 HP:0001513 Obesity OMIM:176270 SNRPN 6638 HP:0000750 Delayed speech and language development OMIM:176270 SNRPN 6638 HP:0000341 Narrow forehead OMIM:176270 SNRPN 6638 HP:0001385 Hip dysplasia OMIM:176270 SNRPN 6638 HP:0000786 Primary amenorrhea OMIM:176270 SNRPN 6638 HP:0007513 Generalized hypopigmentation OMIM:176270 SNRPN 6638 HP:0001290 Generalized hypotonia OMIM:176270 SNRPN 6638 HP:0000545 Myopia OMIM:176270 SNRPN 6638 HP:0001010 Hypopigmentation of the skin OMIM:176270 SNRPN 6638 HP:0001558 Decreased fetal movement OMIM:176270 SNRPN 6638 HP:0000582 Upslanted palpebral fissure OMIM:176270 SNRPN 6638 HP:0001159 Syndactyly OMIM:176270 SNRPN 6638 HP:0010535 Sleep apnea OMIM:176270 SNRPN 6638 HP:0000028 Cryptorchidism OMIM:176270 SNRPN 6638 HP:0000846 Adrenal insufficiency OMIM:176270 SNRPN 6638 HP:0001270 Motor delay OMIM:176270 SNRPN 6638 HP:0012743 Abdominal obesity OMIM:176270 SNRPN 6638 HP:0002808 Kyphosis OMIM:176270 SNRPN 6638 HP:0000064 Hypoplastic labia minora OMIM:176270 SNRPN 6638 HP:0000938 Osteopenia OMIM:176270 SNRPN 6638 HP:0000939 Osteoporosis OMIM:176270 SNRPN 6638 HP:0000670 Carious teeth OMIM:176270 SNRPN 6638 HP:0000046 Scrotal hypoplasia OMIM:176270 SNRPN 6638 HP:0000446 Narrow nasal bridge OMIM:176270 SNRPN 6638 HP:0001773 Short foot OMIM:176270 SNRPN 6638 HP:0002119 Ventriculomegaly OMIM:176270 SNRPN 6638 HP:0002236 Frontal upsweep of hair OMIM:176270 SNRPN 6638 HP:0002714 Downturned corners of mouth OMIM:176270 SNRPN 6638 HP:0001611 Nasal speech OMIM:176270 SNRPN 6638 HP:0007328 Impaired pain sensation OMIM:176270 SNRPN 6638 HP:0000054 Micropenis OMIM:176270 SNRPN 6638 HP:0002650 Scoliosis OMIM:176270 SNRPN 6638 HP:0005968 Temperature instability OMIM:176270 SNRPN 6638 HP:0000565 Esotropia OMIM:176270 SNRPN 6638 HP:0009466 Radial deviation of finger OMIM:176270 SNRPN 6638 HP:0005978 Type II diabetes mellitus OMIM:176270 SNRPN 6638 HP:0007015 Poor gross motor coordination OMIM:176270 SNRPN 6638 HP:0003745 Sporadic OMIM:176270 SNRPN 6638 HP:0000709 Psychosis OMIM:176270 SNRPN 6638 HP:0002033 Poor suck OMIM:176270 SNRPN 6638 HP:0000842 Hyperinsulinemia OMIM:176270 SNRPN 6638 HP:0000876 Oligomenorrhea OMIM:176270 SNRPN 6638 HP:0000826 Precocious puberty OMIM:176270 SNRPN 6638 HP:0000060 Clitoral hypoplasia OMIM:176270 SNRPN 6638 HP:0000540 Hypermetropia OMIM:176270 SNRPN 6638 HP:0000992 Cutaneous photosensitivity OMIM:176270 SNRPN 6638 HP:0000268 Dolichocephaly OMIM:176270 SNRPN 6638 HP:0000044 Hypogonadotrophic hypogonadism OMIM:176270 SNRPN 6638 HP:0004279 Short palm OMIM:176270 SNRPN 6638 HP:0000789 Infertility OMIM:176270 NDN 4692 HP:0007874 Almond-shaped palpebral fissure OMIM:176270 NDN 4692 HP:0005599 Hypopigmentation of hair OMIM:176270 NDN 4692 HP:0001250 Seizures OMIM:176270 NDN 4692 HP:0000824 Growth hormone deficiency OMIM:176270 NDN 4692 HP:0002205 Recurrent respiratory infections OMIM:176270 NDN 4692 HP:0000219 Thin upper lip vermilion OMIM:176270 NDN 4692 HP:0007010 Poor fine motor coordination OMIM:176270 NDN 4692 HP:0003199 Decreased muscle mass OMIM:176270 NDN 4692 HP:0002791 Hypoventilation OMIM:176270 NDN 4692 HP:0000823 Delayed puberty OMIM:176270 NDN 4692 HP:0001263 Global developmental delay OMIM:176270 NDN 4692 HP:0002591 Polyphagia OMIM:176270 NDN 4692 HP:0007018 Attention deficit hyperactivity disorder OMIM:176270 NDN 4692 HP:0001531 Failure to thrive in infancy OMIM:176270 NDN 4692 HP:0004283 Narrow palm OMIM:176270 NDN 4692 HP:0004322 Short stature OMIM:176270 NDN 4692 HP:0030084 Clinodactyly OMIM:176270 NDN 4692 HP:0001328 Specific learning disability OMIM:176270 NDN 4692 HP:0007730 Iris hypopigmentation OMIM:176270 NDN 4692 HP:0000717 Autism OMIM:176270 NDN 4692 HP:0001513 Obesity OMIM:176270 NDN 4692 HP:0000750 Delayed speech and language development OMIM:176270 NDN 4692 HP:0000341 Narrow forehead OMIM:176270 NDN 4692 HP:0001385 Hip dysplasia OMIM:176270 NDN 4692 HP:0000786 Primary amenorrhea OMIM:176270 NDN 4692 HP:0007513 Generalized hypopigmentation OMIM:176270 NDN 4692 HP:0001290 Generalized hypotonia OMIM:176270 NDN 4692 HP:0000545 Myopia OMIM:176270 NDN 4692 HP:0001010 Hypopigmentation of the skin OMIM:176270 NDN 4692 HP:0001558 Decreased fetal movement OMIM:176270 NDN 4692 HP:0000582 Upslanted palpebral fissure OMIM:176270 NDN 4692 HP:0001159 Syndactyly OMIM:176270 NDN 4692 HP:0010535 Sleep apnea OMIM:176270 NDN 4692 HP:0000028 Cryptorchidism OMIM:176270 NDN 4692 HP:0000846 Adrenal insufficiency OMIM:176270 NDN 4692 HP:0001270 Motor delay OMIM:176270 NDN 4692 HP:0012743 Abdominal obesity OMIM:176270 NDN 4692 HP:0002808 Kyphosis OMIM:176270 NDN 4692 HP:0000064 Hypoplastic labia minora OMIM:176270 NDN 4692 HP:0000938 Osteopenia OMIM:176270 NDN 4692 HP:0000939 Osteoporosis OMIM:176270 NDN 4692 HP:0000670 Carious teeth OMIM:176270 NDN 4692 HP:0000046 Scrotal hypoplasia OMIM:176270 NDN 4692 HP:0000446 Narrow nasal bridge OMIM:176270 NDN 4692 HP:0001773 Short foot OMIM:176270 NDN 4692 HP:0002119 Ventriculomegaly OMIM:176270 NDN 4692 HP:0002236 Frontal upsweep of hair OMIM:176270 NDN 4692 HP:0002714 Downturned corners of mouth OMIM:176270 NDN 4692 HP:0001611 Nasal speech OMIM:176270 NDN 4692 HP:0007328 Impaired pain sensation OMIM:176270 NDN 4692 HP:0000054 Micropenis OMIM:176270 NDN 4692 HP:0002650 Scoliosis OMIM:176270 NDN 4692 HP:0005968 Temperature instability OMIM:176270 NDN 4692 HP:0000565 Esotropia OMIM:176270 NDN 4692 HP:0009466 Radial deviation of finger OMIM:176270 NDN 4692 HP:0005978 Type II diabetes mellitus OMIM:176270 NDN 4692 HP:0007015 Poor gross motor coordination OMIM:176270 NDN 4692 HP:0003745 Sporadic OMIM:176270 NDN 4692 HP:0000709 Psychosis OMIM:176270 NDN 4692 HP:0002033 Poor suck OMIM:176270 NDN 4692 HP:0000842 Hyperinsulinemia OMIM:176270 NDN 4692 HP:0000876 Oligomenorrhea OMIM:176270 NDN 4692 HP:0000826 Precocious puberty OMIM:176270 NDN 4692 HP:0000060 Clitoral hypoplasia OMIM:176270 NDN 4692 HP:0000540 Hypermetropia OMIM:176270 NDN 4692 HP:0000992 Cutaneous photosensitivity OMIM:176270 NDN 4692 HP:0000268 Dolichocephaly OMIM:176270 NDN 4692 HP:0000044 Hypogonadotrophic hypogonadism OMIM:176270 NDN 4692 HP:0004279 Short palm OMIM:176270 NDN 4692 HP:0000789 Infertility OMIM:600045 DDB1 1642 HP:0000007 Autosomal recessive inheritance OMIM:600045 DDB1 1642 HP:0001939 Abnormality of metabolism/homeostasis OMIM:600045 DDB1 1642 HP:0000951 Abnormality of the skin OMIM:204690 FAM20A 54757 HP:0006302 Dagger-shaped pulp calcifications OMIM:204690 FAM20A 54757 HP:0000705 Amelogenesis imperfecta OMIM:204690 FAM20A 54757 HP:0000121 Nephrocalcinosis OMIM:204690 FAM20A 54757 HP:0000805 Enuresis OMIM:204690 FAM20A 54757 HP:0011073 Abnormality of dental color OMIM:204690 FAM20A 54757 HP:0000682 Abnormality of dental enamel OMIM:204690 FAM20A 54757 HP:0004727 Impaired renal concentrating ability OMIM:204690 FAM20A 54757 HP:0000083 Renal insufficiency OMIM:204690 FAM20A 54757 HP:0000212 Gingival overgrowth OMIM:204690 FAM20A 54757 HP:0000007 Autosomal recessive inheritance OMIM:204690 FAM20A 54757 HP:0001548 Overgrowth OMIM:204690 FAM20A 54757 HP:0000112 Nephropathy OMIM:204690 FAM20A 54757 HP:0000696 Delayed eruption of permanent teeth OMIM:204690 FAM20A 54757 HP:0000103 Polyuria OMIM:204690 FAM20A 54757 HP:0100530 Abnormality of calcium-phosphate metabolism OMIM:204690 FAM20A 54757 HP:0000684 Delayed eruption of teeth OMIM:608456 MUTYH 4595 HP:0003003 Colon cancer OMIM:608456 MUTYH 4595 HP:0005227 Adenomatous colonic polyposis OMIM:608456 MUTYH 4595 HP:0000007 Autosomal recessive inheritance OMIM:613702 GDF3 9573 HP:0002650 Scoliosis OMIM:613702 GDF3 9573 HP:0004635 Cervical vertebrae fusion (C5/C6) OMIM:613702 GDF3 9573 HP:0007748 Irido-fundal coloboma OMIM:613702 GDF3 9573 HP:0000006 Autosomal dominant inheritance OMIM:176873 CDK11B 984 HP:0000006 Autosomal dominant inheritance OMIM:176873 CDK11B 984 HP:0002664 Neoplasm OMIM:614049 GJA5 2702 HP:0005110 Atrial fibrillation OMIM:614049 GJA5 2702 HP:0000006 Autosomal dominant inheritance OMIM:614153 NOP56 10528 HP:0002066 Gait ataxia OMIM:614153 NOP56 10528 HP:0000006 Autosomal dominant inheritance OMIM:614153 NOP56 10528 HP:0001308 Tongue fasciculations OMIM:614153 NOP56 10528 HP:0000514 Slow saccadic eye movements OMIM:614153 NOP56 10528 HP:0003487 Babinski sign OMIM:614153 NOP56 10528 HP:0002070 Limb ataxia OMIM:614153 NOP56 10528 HP:0007772 Impaired smooth pursuit OMIM:614153 NOP56 10528 HP:0001347 Hyperreflexia OMIM:614153 NOP56 10528 HP:0001260 Dysarthria OMIM:614153 NOP56 10528 HP:0012473 Tongue atrophy OMIM:614153 NOP56 10528 HP:0003676 Progressive disorder OMIM:614153 NOP56 10528 HP:0002311 Incoordination OMIM:614153 NOP56 10528 HP:0001272 Cerebellar atrophy OMIM:264350 SCNN1G 6340 HP:0001944 Dehydration OMIM:264350 SCNN1G 6340 HP:0002153 Hyperkalemia OMIM:264350 SCNN1G 6340 HP:0002902 Hyponatremia OMIM:264350 SCNN1G 6340 HP:0000841 Hyperactive renin-angiotensin system OMIM:264350 SCNN1G 6340 HP:0000127 Renal salt wasting OMIM:264350 SCNN1G 6340 HP:0002615 Hypotension OMIM:264350 SCNN1G 6340 HP:0000007 Autosomal recessive inheritance OMIM:264350 SCNN1G 6340 HP:0001508 Failure to thrive OMIM:264350 SCNN1G 6340 HP:0001942 Metabolic acidosis OMIM:264350 SCNN1G 6340 HP:0008872 Feeding difficulties in infancy OMIM:264350 SCNN1G 6340 HP:0000859 Hyperaldosteronism OMIM:264350 SCNN1G 6340 HP:0002013 Vomiting OMIM:264350 SCNN1G 6340 HP:0008242 Pseudohypoaldosteronism OMIM:264350 SCNN1G 6340 HP:0002205 Recurrent respiratory infections OMIM:264350 SCNN1G 6340 HP:0003593 Infantile onset OMIM:264350 SCNN1G 6340 HP:0002014 Diarrhea OMIM:264350 SCNN1A 6337 HP:0001944 Dehydration OMIM:264350 SCNN1A 6337 HP:0002153 Hyperkalemia OMIM:264350 SCNN1A 6337 HP:0002902 Hyponatremia OMIM:264350 SCNN1A 6337 HP:0000841 Hyperactive renin-angiotensin system OMIM:264350 SCNN1A 6337 HP:0000127 Renal salt wasting OMIM:264350 SCNN1A 6337 HP:0002615 Hypotension OMIM:264350 SCNN1A 6337 HP:0000007 Autosomal recessive inheritance OMIM:264350 SCNN1A 6337 HP:0001508 Failure to thrive OMIM:264350 SCNN1A 6337 HP:0001942 Metabolic acidosis OMIM:264350 SCNN1A 6337 HP:0008872 Feeding difficulties in infancy OMIM:264350 SCNN1A 6337 HP:0000859 Hyperaldosteronism OMIM:264350 SCNN1A 6337 HP:0002013 Vomiting OMIM:264350 SCNN1A 6337 HP:0008242 Pseudohypoaldosteronism OMIM:264350 SCNN1A 6337 HP:0002205 Recurrent respiratory infections OMIM:264350 SCNN1A 6337 HP:0003593 Infantile onset OMIM:264350 SCNN1A 6337 HP:0002014 Diarrhea OMIM:264350 SCNN1B 6338 HP:0001944 Dehydration OMIM:264350 SCNN1B 6338 HP:0002153 Hyperkalemia OMIM:264350 SCNN1B 6338 HP:0002902 Hyponatremia OMIM:264350 SCNN1B 6338 HP:0000841 Hyperactive renin-angiotensin system OMIM:264350 SCNN1B 6338 HP:0000127 Renal salt wasting OMIM:264350 SCNN1B 6338 HP:0002615 Hypotension OMIM:264350 SCNN1B 6338 HP:0000007 Autosomal recessive inheritance OMIM:264350 SCNN1B 6338 HP:0001508 Failure to thrive OMIM:264350 SCNN1B 6338 HP:0001942 Metabolic acidosis OMIM:264350 SCNN1B 6338 HP:0008872 Feeding difficulties in infancy OMIM:264350 SCNN1B 6338 HP:0000859 Hyperaldosteronism OMIM:264350 SCNN1B 6338 HP:0002013 Vomiting OMIM:264350 SCNN1B 6338 HP:0008242 Pseudohypoaldosteronism OMIM:264350 SCNN1B 6338 HP:0002205 Recurrent respiratory infections OMIM:264350 SCNN1B 6338 HP:0003593 Infantile onset OMIM:264350 SCNN1B 6338 HP:0002014 Diarrhea OMIM:182000 PIK3CA 5290 HP:0000006 Autosomal dominant inheritance OMIM:182000 PIK3CA 5290 HP:0200043 Verrucae OMIM:215100 PEX7 5191 HP:0000272 Malar flattening OMIM:215100 PEX7 5191 HP:0012368 Flat face OMIM:215100 PEX7 5191 HP:0000407 Sensorineural hearing impairment OMIM:215100 PEX7 5191 HP:0002188 Delayed CNS myelination OMIM:215100 PEX7 5191 HP:0005841 Calcific stippling of infantile cartilaginous skeleton OMIM:215100 PEX7 5191 HP:0000252 Microcephaly OMIM:215100 PEX7 5191 HP:0000519 Congenital cataract OMIM:215100 PEX7 5191 HP:0002007 Frontal bossing OMIM:215100 PEX7 5191 HP:0002751 Kyphoscoliosis OMIM:215100 PEX7 5191 HP:0001525 Severe failure to thrive OMIM:215100 PEX7 5191 HP:0008064 Ichthyosis OMIM:215100 PEX7 5191 HP:0001371 Flexion contracture OMIM:215100 PEX7 5191 HP:0001596 Alopecia OMIM:215100 PEX7 5191 HP:0000007 Autosomal recessive inheritance OMIM:215100 PEX7 5191 HP:0000175 Cleft palate OMIM:215100 PEX7 5191 HP:0005280 Depressed nasal bridge OMIM:215100 PEX7 5191 HP:0000347 Micrognathia OMIM:215100 PEX7 5191 HP:0001257 Spasticity OMIM:215100 PEX7 5191 HP:0010655 Epiphyseal stippling OMIM:215100 PEX7 5191 HP:0003015 Flared metaphysis OMIM:215100 PEX7 5191 HP:0008905 Rhizomelia OMIM:215100 PEX7 5191 HP:0000582 Upslanted palpebral fissure OMIM:215100 PEX7 5191 HP:0001939 Abnormality of metabolism/homeostasis OMIM:215100 PEX7 5191 HP:0001249 Intellectual disability OMIM:215100 PEX7 5191 HP:0003417 Coronal cleft vertebrae OMIM:215100 PEX7 5191 HP:0002120 Cerebral cortical atrophy OMIM:215100 PEX7 5191 HP:0001250 Seizures OMIM:215100 PEX7 5191 HP:0003510 Severe short stature OMIM:215100 PEX7 5191 HP:0002093 Respiratory insufficiency OMIM:614871 PEX10 5192 HP:0001265 Hyporeflexia OMIM:614871 PEX10 5192 HP:0007772 Impaired smooth pursuit OMIM:614871 PEX10 5192 HP:0000556 Retinal dystrophy OMIM:614871 PEX10 5192 HP:0001410 Decreased liver function OMIM:614871 PEX10 5192 HP:0001761 Pes cavus OMIM:614871 PEX10 5192 HP:0001260 Dysarthria OMIM:614871 PEX10 5192 HP:0000505 Visual impairment OMIM:614871 PEX10 5192 HP:0001319 Neonatal hypotonia OMIM:614871 PEX10 5192 HP:0000641 Dysmetric saccades OMIM:614871 PEX10 5192 HP:0001272 Cerebellar atrophy OMIM:614871 PEX10 5192 HP:0000639 Nystagmus OMIM:614871 PEX10 5192 HP:0002936 Distal sensory impairment OMIM:614871 PEX10 5192 HP:0003693 Distal amyotrophy OMIM:614871 PEX10 5192 HP:0002500 Abnormality of the cerebral white matter OMIM:614871 PEX10 5192 HP:0000007 Autosomal recessive inheritance OMIM:614871 PEX10 5192 HP:0000407 Sensorineural hearing impairment OMIM:614871 PEX10 5192 HP:0001263 Global developmental delay OMIM:614871 PEX10 5192 HP:0001251 Ataxia OMIM:614871 PEX10 5192 HP:0002080 Intention tremor OMIM:613153 FKRP 79147 HP:0003560 Muscular dystrophy OMIM:613153 FKRP 79147 HP:0001321 Cerebellar hypoplasia OMIM:613153 FKRP 79147 HP:0001270 Motor delay OMIM:613153 FKRP 79147 HP:0007260 Type II lissencephaly OMIM:613153 FKRP 79147 HP:0001302 Pachygyria OMIM:613153 FKRP 79147 HP:0001712 Left ventricular hypertrophy OMIM:613153 FKRP 79147 HP:0003577 Congenital onset OMIM:613153 FKRP 79147 HP:0003236 Elevated serum creatine phosphokinase OMIM:613153 FKRP 79147 HP:0000541 Retinal detachment OMIM:613153 FKRP 79147 HP:0000568 Microphthalmos OMIM:613153 FKRP 79147 HP:0012110 Hypoplasia of the pons OMIM:613153 FKRP 79147 HP:0000238 Hydrocephalus OMIM:613153 FKRP 79147 HP:0003819 Death in childhood OMIM:613153 FKRP 79147 HP:0002187 Intellectual disability, profound OMIM:613153 FKRP 79147 HP:0002093 Respiratory insufficiency OMIM:613153 FKRP 79147 HP:0007033 Cerebellar dysplasia OMIM:613153 FKRP 79147 HP:0001305 Dandy-Walker malformation OMIM:613153 FKRP 79147 HP:0007957 Corneal opacity OMIM:613153 FKRP 79147 HP:0002500 Abnormality of the cerebral white matter OMIM:613153 FKRP 79147 HP:0000007 Autosomal recessive inheritance OMIM:613153 FKRP 79147 HP:0006829 Severe muscular hypotonia OMIM:613153 FKRP 79147 HP:0002365 Hypoplasia of the brainstem OMIM:613153 FKRP 79147 HP:0000545 Myopia OMIM:613153 FKRP 79147 HP:0000589 Coloboma OMIM:400003 DAZ1 1617 HP:0000027 Azoospermia OMIM:400003 DAZ1 1617 HP:0001450 Y-linked inheritance OMIM:400003 DAZ1 1617 HP:0001939 Abnormality of metabolism/homeostasis OMIM:612645 GJB6 10804 HP:0001751 Vestibular dysfunction OMIM:612645 GJB6 10804 HP:0000365 Hearing impairment OMIM:612645 GJB6 10804 HP:0000007 Autosomal recessive inheritance OMIM:253270 HLCS 3141 HP:0001942 Metabolic acidosis OMIM:253270 HLCS 3141 HP:0002017 Nausea and vomiting OMIM:253270 HLCS 3141 HP:0002793 Abnormal pattern of respiration OMIM:253270 HLCS 3141 HP:0002883 Hyperventilation OMIM:253270 HLCS 3141 HP:0001824 Weight loss OMIM:253270 HLCS 3141 HP:0001596 Alopecia OMIM:253270 HLCS 3141 HP:0000708 Behavioral abnormality OMIM:253270 HLCS 3141 HP:0000988 Skin rash OMIM:253270 HLCS 3141 HP:0008872 Feeding difficulties in infancy OMIM:253270 HLCS 3141 HP:0001252 Muscular hypotonia OMIM:253270 HLCS 3141 HP:0002013 Vomiting OMIM:253270 HLCS 3141 HP:0001987 Hyperammonemia OMIM:253270 HLCS 3141 HP:0001254 Lethargy OMIM:253270 HLCS 3141 HP:0000737 Irritability OMIM:253270 HLCS 3141 HP:0004372 Reduced consciousness/confusion OMIM:253270 HLCS 3141 HP:0000007 Autosomal recessive inheritance OMIM:253270 HLCS 3141 HP:0001873 Thrombocytopenia OMIM:253270 HLCS 3141 HP:0001992 Organic aciduria OMIM:253270 HLCS 3141 HP:0001263 Global developmental delay OMIM:253270 HLCS 3141 HP:0001250 Seizures OMIM:253270 HLCS 3141 HP:0002789 Tachypnea OMIM:253270 HLCS 3141 HP:0100825 Cheilitis OMIM:253270 HLCS 3141 HP:0100533 Inflammatory abnormality of the eye OMIM:253270 HLCS 3141 HP:0001259 Coma OMIM:253270 HLCS 3141 HP:0002311 Incoordination OMIM:253270 HLCS 3141 HP:0002093 Respiratory insufficiency OMIM:253270 HLCS 3141 HP:0000958 Dry skin OMIM:253270 HLCS 3141 HP:0001276 Hypertonia OMIM:222800 BPGM 669 HP:0001082 Cholecystitis OMIM:222800 BPGM 669 HP:0000952 Jaundice OMIM:222800 BPGM 669 HP:0001744 Splenomegaly OMIM:222800 BPGM 669 HP:0000007 Autosomal recessive inheritance OMIM:222800 BPGM 669 HP:0001939 Abnormality of metabolism/homeostasis OMIM:222800 BPGM 669 HP:0001895 Normochromic anemia OMIM:222800 BPGM 669 HP:0001081 Cholelithiasis OMIM:222800 BPGM 669 HP:0001930 Nonspherocytic hemolytic anemia OMIM:222800 BPGM 669 HP:0001897 Normocytic anemia OMIM:615412 TUBG1 7283 HP:0000006 Autosomal dominant inheritance OMIM:615412 TUBG1 7283 HP:0001263 Global developmental delay OMIM:615412 TUBG1 7283 HP:0002539 Cortical dysplasia OMIM:615412 TUBG1 7283 HP:0003828 Variable expressivity OMIM:615412 TUBG1 7283 HP:0002510 Spastic tetraplegia OMIM:615412 TUBG1 7283 HP:0000518 Cataract OMIM:615412 TUBG1 7283 HP:0000252 Microcephaly OMIM:615412 TUBG1 7283 HP:0001250 Seizures ORPHANET:1388 TGDS 23483 HP:0010296 Ankyloglossia ORPHANET:1388 TGDS 23483 HP:0000767 Pectus excavatum ORPHANET:1388 TGDS 23483 HP:0002119 Ventriculomegaly ORPHANET:1388 TGDS 23483 HP:0000293 Full cheeks ORPHANET:1388 TGDS 23483 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:1388 TGDS 23483 HP:0100490 Camptodactyly of finger ORPHANET:1388 TGDS 23483 HP:0004322 Short stature ORPHANET:1388 TGDS 23483 HP:0001376 Limitation of joint mobility ORPHANET:1388 TGDS 23483 HP:0005930 Abnormality of epiphysis morphology ORPHANET:1388 TGDS 23483 HP:0004209 Clinodactyly of the 5th finger ORPHANET:1388 TGDS 23483 HP:0001883 Talipes ORPHANET:1388 TGDS 23483 HP:0001629 Ventricular septal defect ORPHANET:1388 TGDS 23483 HP:0002650 Scoliosis ORPHANET:1388 TGDS 23483 HP:0001382 Joint hypermobility ORPHANET:1388 TGDS 23483 HP:0001631 Defect in the atrial septum ORPHANET:1388 TGDS 23483 HP:0000175 Cleft palate ORPHANET:1388 TGDS 23483 HP:0000162 Glossoptosis ORPHANET:1388 TGDS 23483 HP:0000347 Micrognathia ORPHANET:1388 TGDS 23483 HP:0000388 Otitis media ORPHANET:1388 TGDS 23483 HP:0002553 Highly arched eyebrow ORPHANET:1388 TGDS 23483 HP:0000316 Hypertelorism ORPHANET:1388 IMPAD1 54928 HP:0010296 Ankyloglossia ORPHANET:1388 IMPAD1 54928 HP:0000767 Pectus excavatum ORPHANET:1388 IMPAD1 54928 HP:0002119 Ventriculomegaly ORPHANET:1388 IMPAD1 54928 HP:0000293 Full cheeks ORPHANET:1388 IMPAD1 54928 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:1388 IMPAD1 54928 HP:0100490 Camptodactyly of finger ORPHANET:1388 IMPAD1 54928 HP:0004322 Short stature ORPHANET:1388 IMPAD1 54928 HP:0001376 Limitation of joint mobility ORPHANET:1388 IMPAD1 54928 HP:0005930 Abnormality of epiphysis morphology ORPHANET:1388 IMPAD1 54928 HP:0004209 Clinodactyly of the 5th finger ORPHANET:1388 IMPAD1 54928 HP:0001883 Talipes ORPHANET:1388 IMPAD1 54928 HP:0001629 Ventricular septal defect ORPHANET:1388 IMPAD1 54928 HP:0002650 Scoliosis ORPHANET:1388 IMPAD1 54928 HP:0001382 Joint hypermobility ORPHANET:1388 IMPAD1 54928 HP:0001631 Defect in the atrial septum ORPHANET:1388 IMPAD1 54928 HP:0000175 Cleft palate ORPHANET:1388 IMPAD1 54928 HP:0000162 Glossoptosis ORPHANET:1388 IMPAD1 54928 HP:0000347 Micrognathia ORPHANET:1388 IMPAD1 54928 HP:0000388 Otitis media ORPHANET:1388 IMPAD1 54928 HP:0002553 Highly arched eyebrow ORPHANET:1388 IMPAD1 54928 HP:0000316 Hypertelorism OMIM:300558 PAK3 5063 HP:0003828 Variable expressivity OMIM:300558 PAK3 5063 HP:0002194 Delayed gross motor development OMIM:300558 PAK3 5063 HP:0000218 High palate OMIM:300558 PAK3 5063 HP:0000750 Delayed speech and language development OMIM:300558 PAK3 5063 HP:0000252 Microcephaly OMIM:300558 PAK3 5063 HP:0000219 Thin upper lip vermilion OMIM:300558 PAK3 5063 HP:0000736 Short attention span OMIM:300558 PAK3 5063 HP:0000752 Hyperactivity OMIM:300558 PAK3 5063 HP:0000739 Anxiety OMIM:300558 PAK3 5063 HP:0000709 Psychosis OMIM:300558 PAK3 5063 HP:0000400 Macrotia OMIM:300558 PAK3 5063 HP:0012368 Flat face OMIM:300558 PAK3 5063 HP:0003196 Short nose OMIM:300558 PAK3 5063 HP:0000194 Open mouth OMIM:300558 PAK3 5063 HP:0002307 Drooling OMIM:300558 PAK3 5063 HP:0001419 X-linked recessive inheritance OMIM:300558 PAK3 5063 HP:0001249 Intellectual disability OMIM:300558 PAK3 5063 HP:0000713 Agitation OMIM:300558 PAK3 5063 HP:0001250 Seizures OMIM:300558 PAK3 5063 HP:0000463 Anteverted nares OMIM:300558 PAK3 5063 HP:0000718 Aggressive behavior OMIM:219800 CTNS 1497 HP:0004911 Episodic metabolic acidosis OMIM:219800 CTNS 1497 HP:0001738 Exocrine pancreatic insufficiency OMIM:219800 CTNS 1497 HP:0002015 Dysphagia OMIM:219800 CTNS 1497 HP:0001608 Abnormality of the voice OMIM:219800 CTNS 1497 HP:0003251 Male infertility OMIM:219800 CTNS 1497 HP:0000832 Primary hypothyroidism OMIM:219800 CTNS 1497 HP:0002909 Generalized aminoaciduria OMIM:219800 CTNS 1497 HP:0000787 Nephrolithiasis OMIM:219800 CTNS 1497 HP:0001744 Splenomegaly OMIM:219800 CTNS 1497 HP:0002240 Hepatomegaly OMIM:219800 CTNS 1497 HP:0002059 Cerebral atrophy OMIM:219800 CTNS 1497 HP:0000103 Polyuria OMIM:219800 CTNS 1497 HP:0000083 Renal insufficiency OMIM:219800 CTNS 1497 HP:0003198 Myopathy OMIM:219800 CTNS 1497 HP:0000093 Proteinuria OMIM:219800 CTNS 1497 HP:0003076 Glycosuria OMIM:219800 CTNS 1497 HP:0002007 Frontal bossing OMIM:219800 CTNS 1497 HP:0002907 Microscopic hematuria OMIM:219800 CTNS 1497 HP:0001010 Hypopigmentation of the skin OMIM:219800 CTNS 1497 HP:0003234 Decreased plasma carnitine OMIM:219800 CTNS 1497 HP:0000531 Corneal crystals OMIM:219800 CTNS 1497 HP:0001944 Dehydration OMIM:219800 CTNS 1497 HP:0000505 Visual impairment OMIM:219800 CTNS 1497 HP:0002344 Progressive neurologic deterioration OMIM:219800 CTNS 1497 HP:0001959 Polydipsia OMIM:219800 CTNS 1497 HP:0007869 Peripheral retinopathy OMIM:219800 CTNS 1497 HP:0000007 Autosomal recessive inheritance OMIM:219800 CTNS 1497 HP:0000966 Hypohidrosis OMIM:219800 CTNS 1497 HP:0001531 Failure to thrive in infancy OMIM:219800 CTNS 1497 HP:0005599 Hypopigmentation of hair OMIM:219800 CTNS 1497 HP:0003016 Metaphyseal widening OMIM:219800 CTNS 1497 HP:0000613 Photophobia OMIM:219800 CTNS 1497 HP:0003202 Skeletal muscle atrophy OMIM:219800 CTNS 1497 HP:0000495 Recurrent corneal erosions OMIM:219800 CTNS 1497 HP:0001994 Renal Fanconi syndrome OMIM:219800 CTNS 1497 HP:0002902 Hyponatremia OMIM:219800 CTNS 1497 HP:0004322 Short stature OMIM:219800 CTNS 1497 HP:0002857 Genu valgum OMIM:219800 CTNS 1497 HP:0002750 Delayed skeletal maturation OMIM:219800 CTNS 1497 HP:0000823 Delayed puberty OMIM:219800 CTNS 1497 HP:0000897 Rachitic rosary OMIM:219800 CTNS 1497 HP:0004912 Hypophosphatemic rickets OMIM:219800 CTNS 1497 HP:0003358 Elevated intracellular cystine OMIM:219800 CTNS 1497 HP:0000819 Diabetes mellitus OMIM:614830 POMGNT2 84892 HP:0007973 Retinal dysplasia OMIM:614830 POMGNT2 84892 HP:0001321 Cerebellar hypoplasia OMIM:614830 POMGNT2 84892 HP:0002119 Ventriculomegaly OMIM:614830 POMGNT2 84892 HP:0000238 Hydrocephalus OMIM:614830 POMGNT2 84892 HP:0000568 Microphthalmos OMIM:614830 POMGNT2 84892 HP:0000007 Autosomal recessive inheritance OMIM:614830 POMGNT2 84892 HP:0003560 Muscular dystrophy OMIM:614830 POMGNT2 84892 HP:0007260 Type II lissencephaly OMIM:614830 POMGNT2 84892 HP:0001263 Global developmental delay OMIM:614830 POMGNT2 84892 HP:0001252 Muscular hypotonia OMIM:600512 LGI1 9211 HP:0007334 Bilateral convulsive seizures OMIM:600512 LGI1 9211 HP:0003829 Incomplete penetrance OMIM:600512 LGI1 9211 HP:0000006 Autosomal dominant inheritance OMIM:600512 LGI1 9211 HP:0002349 Focal seizures without impairment of consciousness or awareness OMIM:600512 LGI1 9211 HP:0011158 Auditory auras OMIM:600512 LGI1 9211 HP:0002384 Focal seizures with impairment of consciousness or awareness OMIM:615228 ATP5A1 498 HP:0002104 Apnea OMIM:615228 ATP5A1 498 HP:0002089 Pulmonary hypoplasia OMIM:615228 ATP5A1 498 HP:0003577 Congenital onset OMIM:615228 ATP5A1 498 HP:0000737 Irritability OMIM:615228 ATP5A1 498 HP:0000639 Nystagmus OMIM:615228 ATP5A1 498 HP:0000007 Autosomal recessive inheritance OMIM:615228 ATP5A1 498 HP:0001298 Encephalopathy OMIM:258900 UMPS 7372 HP:0001629 Ventricular septal defect OMIM:258900 UMPS 7372 HP:0001263 Global developmental delay OMIM:258900 UMPS 7372 HP:0000368 Low-set, posteriorly rotated ears OMIM:258900 UMPS 7372 HP:0001744 Splenomegaly OMIM:258900 UMPS 7372 HP:0004447 Poikilocytosis OMIM:258900 UMPS 7372 HP:0001508 Failure to thrive OMIM:258900 UMPS 7372 HP:0008388 Abnormality of the toenails OMIM:258900 UMPS 7372 HP:0005435 Impaired T cell function OMIM:258900 UMPS 7372 HP:0004826 Folate-unresponsive megaloblastic anemia OMIM:258900 UMPS 7372 HP:0010935 Abnormality of the upper urinary tract OMIM:258900 UMPS 7372 HP:0000494 Downslanted palpebral fissures OMIM:258900 UMPS 7372 HP:0100543 Cognitive impairment OMIM:258900 UMPS 7372 HP:0001643 Patent ductus arteriosus OMIM:258900 UMPS 7372 HP:0003526 Orotic acid crystalluria OMIM:258900 UMPS 7372 HP:0000007 Autosomal recessive inheritance OMIM:258900 UMPS 7372 HP:0003218 Oroticaciduria OMIM:258900 UMPS 7372 HP:0011273 Anisocytosis OMIM:258900 UMPS 7372 HP:0000316 Hypertelorism OMIM:258900 UMPS 7372 HP:0003272 Abnormality of the hip bone OMIM:258900 UMPS 7372 HP:0000790 Hematuria OMIM:258900 UMPS 7372 HP:0000431 Wide nasal bridge OMIM:258900 UMPS 7372 HP:0001631 Defect in the atrial septum OMIM:258900 UMPS 7372 HP:0002205 Recurrent respiratory infections OMIM:258900 UMPS 7372 HP:0003355 Aminoaciduria OMIM:258900 UMPS 7372 HP:0003339 Pyrimidine-responsive megaloblastic anemia OMIM:258900 UMPS 7372 HP:0003267 Reduced orotidine 5-prime phosphate decarboxylase activity OMIM:612109 HMX1 3166 HP:0000568 Microphthalmos OMIM:612109 HMX1 3166 HP:0000482 Microcornea OMIM:612109 HMX1 3166 HP:0000007 Autosomal recessive inheritance OMIM:612109 HMX1 3166 HP:0000589 Coloboma OMIM:612109 HMX1 3166 HP:0012376 Microphakia OMIM:612109 HMX1 3166 HP:0007906 Increased intraocular pressure OMIM:612109 HMX1 3166 HP:0001104 Macular hypoplasia OMIM:612109 HMX1 3166 HP:0000518 Cataract OMIM:612109 HMX1 3166 HP:0000647 Sclerocornea OMIM:612109 HMX1 3166 HP:0000639 Nystagmus OMIM:614613 PDE4D 5144 HP:0001249 Intellectual disability OMIM:614613 PDE4D 5144 HP:0003502 Mild short stature OMIM:614613 PDE4D 5144 HP:0000635 Blue irides OMIM:614613 PDE4D 5144 HP:0011800 Midface retrusion OMIM:614613 PDE4D 5144 HP:0000819 Diabetes mellitus OMIM:614613 PDE4D 5144 HP:0000272 Malar flattening OMIM:614613 PDE4D 5144 HP:0002297 Red hair OMIM:614613 PDE4D 5144 HP:0000750 Delayed speech and language development OMIM:614613 PDE4D 5144 HP:0001156 Brachydactyly syndrome OMIM:614613 PDE4D 5144 HP:0003196 Short nose OMIM:614613 PDE4D 5144 HP:0000047 Hypospadias OMIM:614613 PDE4D 5144 HP:0001513 Obesity OMIM:614613 PDE4D 5144 HP:0002286 Fair hair OMIM:614613 PDE4D 5144 HP:0003577 Congenital onset OMIM:614613 PDE4D 5144 HP:0000851 Congenital hypothyroidism OMIM:614613 PDE4D 5144 HP:0000752 Hyperactivity OMIM:614613 PDE4D 5144 HP:0005280 Depressed nasal bridge OMIM:614613 PDE4D 5144 HP:0009803 Short phalanx of finger OMIM:614613 PDE4D 5144 HP:0000717 Autism OMIM:614613 PDE4D 5144 HP:0010049 Short metacarpal OMIM:614613 PDE4D 5144 HP:0001511 Intrauterine growth retardation OMIM:614613 PDE4D 5144 HP:0000006 Autosomal dominant inheritance OMIM:614613 PDE4D 5144 HP:0000463 Anteverted nares OMIM:614613 PDE4D 5144 HP:0010743 Short metatarsal OMIM:614613 PDE4D 5144 HP:0001263 Global developmental delay OMIM:614613 PDE4D 5144 HP:0003416 Spinal canal stenosis OMIM:614613 PDE4D 5144 HP:0000311 Round face OMIM:614613 PDE4D 5144 HP:0010579 Cone-shaped epiphysis OMIM:614613 PDE4D 5144 HP:0005616 Accelerated skeletal maturation OMIM:614613 PDE4D 5144 HP:0000028 Cryptorchidism OMIM:300696 FHL1 2273 HP:0011675 Arrhythmia OMIM:300696 FHL1 2273 HP:0002093 Respiratory insufficiency OMIM:300696 FHL1 2273 HP:0003306 Spinal rigidity OMIM:300696 FHL1 2273 HP:0001639 Hypertrophic cardiomyopathy OMIM:300696 FHL1 2273 HP:0003691 Scapular winging OMIM:300696 FHL1 2273 HP:0003805 Rimmed vacuoles OMIM:300696 FHL1 2273 HP:0001371 Flexion contracture OMIM:300696 FHL1 2273 HP:0003704 Scapuloperoneal weakness OMIM:300696 FHL1 2273 HP:0000470 Short neck OMIM:300696 FHL1 2273 HP:0003236 Elevated serum creatine phosphokinase OMIM:300696 FHL1 2273 HP:0003676 Progressive disorder OMIM:300696 FHL1 2273 HP:0001419 X-linked recessive inheritance OMIM:300696 FHL1 2273 HP:0003701 Proximal muscle weakness OMIM:300696 FHL1 2273 HP:0003418 Back pain OMIM:275350 TCN2 6948 HP:0000737 Irritability OMIM:275350 TCN2 6948 HP:0001249 Intellectual disability OMIM:275350 TCN2 6948 HP:0000153 Abnormality of the mouth OMIM:275350 TCN2 6948 HP:0003220 Abnormality of chromosome stability OMIM:275350 TCN2 6948 HP:0001251 Ataxia OMIM:275350 TCN2 6948 HP:0001324 Muscle weakness OMIM:275350 TCN2 6948 HP:0001972 Macrocytic anemia OMIM:275350 TCN2 6948 HP:0001876 Pancytopenia OMIM:275350 TCN2 6948 HP:0004313 Hypogammaglobulinemia OMIM:275350 TCN2 6948 HP:0002720 IgA deficiency OMIM:275350 TCN2 6948 HP:0001875 Neutropenia OMIM:275350 TCN2 6948 HP:0002850 IgM deficiency OMIM:275350 TCN2 6948 HP:0002013 Vomiting OMIM:275350 TCN2 6948 HP:0012120 Methylmalonic aciduria OMIM:275350 TCN2 6948 HP:0001896 Reticulocytopenia OMIM:275350 TCN2 6948 HP:0001980 Megaloblastic bone marrow OMIM:275350 TCN2 6948 HP:0001508 Failure to thrive OMIM:275350 TCN2 6948 HP:0002014 Diarrhea OMIM:275350 TCN2 6948 HP:0004315 IgG deficiency OMIM:275350 TCN2 6948 HP:0001254 Lethargy OMIM:275350 TCN2 6948 HP:0001903 Anemia OMIM:275350 TCN2 6948 HP:0000007 Autosomal recessive inheritance OMIM:275350 TCN2 6948 HP:0001888 Lymphopenia OMIM:275350 TCN2 6948 HP:0001873 Thrombocytopenia OMIM:275350 TCN2 6948 HP:0001874 Abnormality of neutrophils OMIM:610253 EHMT1 79813 HP:0000272 Malar flattening OMIM:610253 EHMT1 79813 HP:0001679 Abnormality of the aorta OMIM:610253 EHMT1 79813 HP:0002119 Ventriculomegaly OMIM:610253 EHMT1 79813 HP:0001249 Intellectual disability OMIM:610253 EHMT1 79813 HP:0010806 U-Shaped upper lip vermilion OMIM:610253 EHMT1 79813 HP:0002360 Sleep disturbance OMIM:610253 EHMT1 79813 HP:0000083 Renal insufficiency OMIM:610253 EHMT1 79813 HP:0002019 Constipation OMIM:610253 EHMT1 79813 HP:0000717 Autism OMIM:610253 EHMT1 79813 HP:0001250 Seizures OMIM:610253 EHMT1 79813 HP:0002558 Supernumerary nipple OMIM:610253 EHMT1 79813 HP:0002205 Recurrent respiratory infections OMIM:610253 EHMT1 79813 HP:0000028 Cryptorchidism OMIM:610253 EHMT1 79813 HP:0011800 Midface retrusion OMIM:610253 EHMT1 79813 HP:0002714 Downturned corners of mouth OMIM:610253 EHMT1 79813 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:610253 EHMT1 79813 HP:0002120 Cerebral cortical atrophy OMIM:610253 EHMT1 79813 HP:0100790 Hernia OMIM:610253 EHMT1 79813 HP:0000337 Broad forehead OMIM:610253 EHMT1 79813 HP:0000733 Stereotypic behavior OMIM:610253 EHMT1 79813 HP:0001376 Limitation of joint mobility OMIM:610253 EHMT1 79813 HP:0002553 Highly arched eyebrow OMIM:610253 EHMT1 79813 HP:0000252 Microcephaly OMIM:610253 EHMT1 79813 HP:0002607 Bowel incontinence OMIM:610253 EHMT1 79813 HP:0000232 Everted lower lip vermilion OMIM:610253 EHMT1 79813 HP:0001156 Brachydactyly syndrome OMIM:610253 EHMT1 79813 HP:0002020 Gastroesophageal reflux OMIM:610253 EHMT1 79813 HP:0000006 Autosomal dominant inheritance OMIM:610253 EHMT1 79813 HP:0000248 Brachycephaly OMIM:610253 EHMT1 79813 HP:0004414 Abnormality of the pulmonary artery OMIM:610253 EHMT1 79813 HP:0000388 Otitis media OMIM:610253 EHMT1 79813 HP:0000391 Thickened helices OMIM:610253 EHMT1 79813 HP:0000303 Mandibular prognathia OMIM:610253 EHMT1 79813 HP:0000684 Delayed eruption of teeth OMIM:610253 EHMT1 79813 HP:0012368 Flat face OMIM:610253 EHMT1 79813 HP:0000718 Aggressive behavior OMIM:610253 EHMT1 79813 HP:0000582 Upslanted palpebral fissure OMIM:610253 EHMT1 79813 HP:0001762 Talipes equinovarus OMIM:610253 EHMT1 79813 HP:0002093 Respiratory insufficiency OMIM:610253 EHMT1 79813 HP:0000316 Hypertelorism OMIM:610253 EHMT1 79813 HP:0000664 Synophrys OMIM:610253 EHMT1 79813 HP:0003745 Sporadic OMIM:610253 EHMT1 79813 HP:0000695 Natal tooth OMIM:610253 EHMT1 79813 HP:0004322 Short stature OMIM:610253 EHMT1 79813 HP:0000047 Hypospadias OMIM:610253 EHMT1 79813 HP:0000158 Macroglossia OMIM:610253 EHMT1 79813 HP:0000280 Coarse facial features OMIM:610253 EHMT1 79813 HP:0001629 Ventricular septal defect OMIM:610253 EHMT1 79813 HP:0002650 Scoliosis OMIM:610253 EHMT1 79813 HP:0000750 Delayed speech and language development OMIM:610253 EHMT1 79813 HP:0001513 Obesity OMIM:610253 EHMT1 79813 HP:0010864 Intellectual disability, severe OMIM:610253 EHMT1 79813 HP:0002021 Pyloric stenosis OMIM:610253 EHMT1 79813 HP:0000054 Micropenis OMIM:610253 EHMT1 79813 HP:0002167 Neurological speech impairment OMIM:610253 EHMT1 79813 HP:0000107 Renal cyst OMIM:610253 EHMT1 79813 HP:0100716 Self-injurious behavior OMIM:610253 EHMT1 79813 HP:0000324 Facial asymmetry OMIM:610253 EHMT1 79813 HP:0000741 Apathy OMIM:610253 EHMT1 79813 HP:0011675 Arrhythmia OMIM:610253 EHMT1 79813 HP:0010804 Tented upper lip vermilion OMIM:610253 EHMT1 79813 HP:0000722 Obsessive-compulsive behavior OMIM:610253 EHMT1 79813 HP:0002786 Tracheobronchomalacia OMIM:610253 EHMT1 79813 HP:0000954 Single transverse palmar crease OMIM:610253 EHMT1 79813 HP:0100543 Cognitive impairment OMIM:610253 EHMT1 79813 HP:0001646 Abnormality of the aortic valve OMIM:610253 EHMT1 79813 HP:0001252 Muscular hypotonia OMIM:610253 EHMT1 79813 HP:0003196 Short nose OMIM:610253 EHMT1 79813 HP:0001636 Tetralogy of Fallot OMIM:610253 EHMT1 79813 HP:0000365 Hearing impairment OMIM:610253 EHMT1 79813 HP:0000463 Anteverted nares OMIM:610253 EHMT1 79813 HP:0010808 Protruding tongue OMIM:610253 EHMT1 79813 HP:0006335 Persistence of primary teeth OMIM:610253 EHMT1 79813 HP:0000076 Vesicoureteral reflux OMIM:610253 EHMT1 79813 HP:0002376 Developmental regression OMIM:613794 RPE65 6121 HP:0007843 Attenuation of retinal blood vessels OMIM:613794 RPE65 6121 HP:0000505 Visual impairment OMIM:613794 RPE65 6121 HP:0000007 Autosomal recessive inheritance OMIM:613794 RPE65 6121 HP:0000510 Retinitis pigmentosa OMIM:613794 RPE65 6121 HP:0000662 Night blindness OMIM:616117 TNNI3K 51086 HP:0011711 Left anterior fascicular block OMIM:616117 TNNI3K 51086 HP:0001692 Primary atrial arrhythmia OMIM:616117 TNNI3K 51086 HP:0001644 Dilated cardiomyopathy OMIM:616117 TNNI3K 51086 HP:0000006 Autosomal dominant inheritance OMIM:607736 MPZ 4359 HP:0001265 Hyporeflexia OMIM:607736 MPZ 4359 HP:0001761 Pes cavus OMIM:607736 MPZ 4359 HP:0011096 Peripheral demyelination OMIM:607736 MPZ 4359 HP:0000006 Autosomal dominant inheritance OMIM:607736 MPZ 4359 HP:0002936 Distal sensory impairment OMIM:607736 MPZ 4359 HP:0003376 Steppage gait OMIM:607736 MPZ 4359 HP:0002015 Dysphagia OMIM:607736 MPZ 4359 HP:0003693 Distal amyotrophy OMIM:607736 MPZ 4359 HP:0000478 Abnormality of the eye OMIM:607736 MPZ 4359 HP:0002460 Distal muscle weakness OMIM:607736 MPZ 4359 HP:0002086 Abnormality of the respiratory system OMIM:607736 MPZ 4359 HP:0009027 Foot dorsiflexor weakness OMIM:607736 MPZ 4359 HP:0001284 Areflexia OMIM:607736 MPZ 4359 HP:0003378 Axonal degeneration/regeneration OMIM:607736 MPZ 4359 HP:0000407 Sensorineural hearing impairment OMIM:607736 MPZ 4359 HP:0000408 Progressive sensorineural hearing impairment OMIM:611938 CASQ2 845 HP:0004756 Ventricular tachycardia OMIM:611938 CASQ2 845 HP:0001699 Sudden death OMIM:611938 CASQ2 845 HP:0001279 Syncope OMIM:611938 CASQ2 845 HP:0001250 Seizures OMIM:611938 CASQ2 845 HP:0000007 Autosomal recessive inheritance OMIM:600231 AQP5 362 HP:0200042 Skin ulcer OMIM:600231 AQP5 362 HP:0008066 Abnormal blistering of the skin OMIM:600231 AQP5 362 HP:0000982 Palmoplantar keratoderma OMIM:600231 AQP5 362 HP:0000989 Pruritus OMIM:600231 AQP5 362 HP:0007435 Diffuse palmoplantar keratoderma OMIM:600231 AQP5 362 HP:0000006 Autosomal dominant inheritance ORPHANET:474 IFT140 9742 HP:0002644 Abnormality of pelvic girdle bone morphology ORPHANET:474 IFT140 9742 HP:0000083 Renal insufficiency ORPHANET:474 IFT140 9742 HP:0000772 Abnormality of the ribs ORPHANET:474 IFT140 9742 HP:0006703 Aplasia/Hypoplasia of the lungs ORPHANET:474 IFT140 9742 HP:0002983 Micromelia ORPHANET:474 IFT140 9742 HP:0010579 Cone-shaped epiphysis ORPHANET:474 IFT140 9742 HP:0002093 Respiratory insufficiency ORPHANET:474 IFT140 9742 HP:0000889 Abnormality of the clavicle ORPHANET:474 IFT140 9742 HP:0004322 Short stature ORPHANET:474 IFT140 9742 HP:0001831 Short toe ORPHANET:474 IFT140 9742 HP:0000944 Abnormality of the metaphyses ORPHANET:474 IFT140 9742 HP:0000112 Nephropathy ORPHANET:474 IFT140 9742 HP:0001156 Brachydactyly syndrome ORPHANET:474 IFT140 9742 HP:0001392 Abnormality of the liver ORPHANET:474 IFT140 9742 HP:0002652 Skeletal dysplasia ORPHANET:474 IFT140 9742 HP:0001830 Postaxial foot polydactyly ORPHANET:474 IFT140 9742 HP:0001770 Toe syndactyly ORPHANET:474 IFT140 9742 HP:0000766 Abnormality of the sternum ORPHANET:474 IFT140 9742 HP:0000774 Narrow chest ORPHANET:474 IFT140 9742 HP:0008872 Feeding difficulties in infancy ORPHANET:474 IFT140 9742 HP:0001162 Postaxial hand polydactyly ORPHANET:474 IFT140 9742 HP:0007703 Abnormal retinal pigmentation ORPHANET:474 IFT140 9742 HP:0010306 Short thorax ORPHANET:474 TTC21B 79809 HP:0002644 Abnormality of pelvic girdle bone morphology ORPHANET:474 TTC21B 79809 HP:0000083 Renal insufficiency ORPHANET:474 TTC21B 79809 HP:0000772 Abnormality of the ribs ORPHANET:474 TTC21B 79809 HP:0006703 Aplasia/Hypoplasia of the lungs ORPHANET:474 TTC21B 79809 HP:0002983 Micromelia ORPHANET:474 TTC21B 79809 HP:0010579 Cone-shaped epiphysis ORPHANET:474 TTC21B 79809 HP:0002093 Respiratory insufficiency ORPHANET:474 TTC21B 79809 HP:0000889 Abnormality of the clavicle ORPHANET:474 TTC21B 79809 HP:0004322 Short stature ORPHANET:474 TTC21B 79809 HP:0001831 Short toe ORPHANET:474 TTC21B 79809 HP:0000944 Abnormality of the metaphyses ORPHANET:474 TTC21B 79809 HP:0000112 Nephropathy ORPHANET:474 TTC21B 79809 HP:0001156 Brachydactyly syndrome ORPHANET:474 TTC21B 79809 HP:0001392 Abnormality of the liver ORPHANET:474 TTC21B 79809 HP:0002652 Skeletal dysplasia ORPHANET:474 TTC21B 79809 HP:0001830 Postaxial foot polydactyly ORPHANET:474 TTC21B 79809 HP:0001770 Toe syndactyly ORPHANET:474 TTC21B 79809 HP:0000766 Abnormality of the sternum ORPHANET:474 TTC21B 79809 HP:0000774 Narrow chest ORPHANET:474 TTC21B 79809 HP:0008872 Feeding difficulties in infancy ORPHANET:474 TTC21B 79809 HP:0001162 Postaxial hand polydactyly ORPHANET:474 TTC21B 79809 HP:0007703 Abnormal retinal pigmentation ORPHANET:474 TTC21B 79809 HP:0010306 Short thorax ORPHANET:474 WDR19 57728 HP:0002644 Abnormality of pelvic girdle bone morphology ORPHANET:474 WDR19 57728 HP:0000083 Renal insufficiency ORPHANET:474 WDR19 57728 HP:0000772 Abnormality of the ribs ORPHANET:474 WDR19 57728 HP:0006703 Aplasia/Hypoplasia of the lungs ORPHANET:474 WDR19 57728 HP:0002983 Micromelia ORPHANET:474 WDR19 57728 HP:0010579 Cone-shaped epiphysis ORPHANET:474 WDR19 57728 HP:0002093 Respiratory insufficiency ORPHANET:474 WDR19 57728 HP:0000889 Abnormality of the clavicle ORPHANET:474 WDR19 57728 HP:0004322 Short stature ORPHANET:474 WDR19 57728 HP:0001831 Short toe ORPHANET:474 WDR19 57728 HP:0000944 Abnormality of the metaphyses ORPHANET:474 WDR19 57728 HP:0000112 Nephropathy ORPHANET:474 WDR19 57728 HP:0001156 Brachydactyly syndrome ORPHANET:474 WDR19 57728 HP:0001392 Abnormality of the liver ORPHANET:474 WDR19 57728 HP:0002652 Skeletal dysplasia ORPHANET:474 WDR19 57728 HP:0001830 Postaxial foot polydactyly ORPHANET:474 WDR19 57728 HP:0001770 Toe syndactyly ORPHANET:474 WDR19 57728 HP:0000766 Abnormality of the sternum ORPHANET:474 WDR19 57728 HP:0000774 Narrow chest ORPHANET:474 WDR19 57728 HP:0008872 Feeding difficulties in infancy ORPHANET:474 WDR19 57728 HP:0001162 Postaxial hand polydactyly ORPHANET:474 WDR19 57728 HP:0007703 Abnormal retinal pigmentation ORPHANET:474 WDR19 57728 HP:0010306 Short thorax ORPHANET:474 DYNC2H1 79659 HP:0002644 Abnormality of pelvic girdle bone morphology ORPHANET:474 DYNC2H1 79659 HP:0000083 Renal insufficiency ORPHANET:474 DYNC2H1 79659 HP:0000772 Abnormality of the ribs ORPHANET:474 DYNC2H1 79659 HP:0006703 Aplasia/Hypoplasia of the lungs ORPHANET:474 DYNC2H1 79659 HP:0002983 Micromelia ORPHANET:474 DYNC2H1 79659 HP:0010579 Cone-shaped epiphysis ORPHANET:474 DYNC2H1 79659 HP:0002093 Respiratory insufficiency ORPHANET:474 DYNC2H1 79659 HP:0000889 Abnormality of the clavicle ORPHANET:474 DYNC2H1 79659 HP:0004322 Short stature ORPHANET:474 DYNC2H1 79659 HP:0001831 Short toe ORPHANET:474 DYNC2H1 79659 HP:0000944 Abnormality of the metaphyses ORPHANET:474 DYNC2H1 79659 HP:0000112 Nephropathy ORPHANET:474 DYNC2H1 79659 HP:0001156 Brachydactyly syndrome ORPHANET:474 DYNC2H1 79659 HP:0001392 Abnormality of the liver ORPHANET:474 DYNC2H1 79659 HP:0002652 Skeletal dysplasia ORPHANET:474 DYNC2H1 79659 HP:0001830 Postaxial foot polydactyly ORPHANET:474 DYNC2H1 79659 HP:0001770 Toe syndactyly ORPHANET:474 DYNC2H1 79659 HP:0000766 Abnormality of the sternum ORPHANET:474 DYNC2H1 79659 HP:0000774 Narrow chest ORPHANET:474 DYNC2H1 79659 HP:0008872 Feeding difficulties in infancy ORPHANET:474 DYNC2H1 79659 HP:0001162 Postaxial hand polydactyly ORPHANET:474 DYNC2H1 79659 HP:0007703 Abnormal retinal pigmentation ORPHANET:474 DYNC2H1 79659 HP:0010306 Short thorax ORPHANET:474 IFT172 26160 HP:0002644 Abnormality of pelvic girdle bone morphology ORPHANET:474 IFT172 26160 HP:0000083 Renal insufficiency ORPHANET:474 IFT172 26160 HP:0000772 Abnormality of the ribs ORPHANET:474 IFT172 26160 HP:0006703 Aplasia/Hypoplasia of the lungs ORPHANET:474 IFT172 26160 HP:0002983 Micromelia ORPHANET:474 IFT172 26160 HP:0010579 Cone-shaped epiphysis ORPHANET:474 IFT172 26160 HP:0002093 Respiratory insufficiency ORPHANET:474 IFT172 26160 HP:0000889 Abnormality of the clavicle ORPHANET:474 IFT172 26160 HP:0004322 Short stature ORPHANET:474 IFT172 26160 HP:0001831 Short toe ORPHANET:474 IFT172 26160 HP:0000944 Abnormality of the metaphyses ORPHANET:474 IFT172 26160 HP:0000112 Nephropathy ORPHANET:474 IFT172 26160 HP:0001156 Brachydactyly syndrome ORPHANET:474 IFT172 26160 HP:0001392 Abnormality of the liver ORPHANET:474 IFT172 26160 HP:0002652 Skeletal dysplasia ORPHANET:474 IFT172 26160 HP:0001830 Postaxial foot polydactyly ORPHANET:474 IFT172 26160 HP:0001770 Toe syndactyly ORPHANET:474 IFT172 26160 HP:0000766 Abnormality of the sternum ORPHANET:474 IFT172 26160 HP:0000774 Narrow chest ORPHANET:474 IFT172 26160 HP:0008872 Feeding difficulties in infancy ORPHANET:474 IFT172 26160 HP:0001162 Postaxial hand polydactyly ORPHANET:474 IFT172 26160 HP:0007703 Abnormal retinal pigmentation ORPHANET:474 IFT172 26160 HP:0010306 Short thorax ORPHANET:474 CEP120 153241 HP:0002644 Abnormality of pelvic girdle bone morphology ORPHANET:474 CEP120 153241 HP:0000083 Renal insufficiency ORPHANET:474 CEP120 153241 HP:0000772 Abnormality of the ribs ORPHANET:474 CEP120 153241 HP:0006703 Aplasia/Hypoplasia of the lungs ORPHANET:474 CEP120 153241 HP:0002983 Micromelia ORPHANET:474 CEP120 153241 HP:0010579 Cone-shaped epiphysis ORPHANET:474 CEP120 153241 HP:0002093 Respiratory insufficiency ORPHANET:474 CEP120 153241 HP:0000889 Abnormality of the clavicle ORPHANET:474 CEP120 153241 HP:0004322 Short stature ORPHANET:474 CEP120 153241 HP:0001831 Short toe ORPHANET:474 CEP120 153241 HP:0000944 Abnormality of the metaphyses ORPHANET:474 CEP120 153241 HP:0000112 Nephropathy ORPHANET:474 CEP120 153241 HP:0001156 Brachydactyly syndrome ORPHANET:474 CEP120 153241 HP:0001392 Abnormality of the liver ORPHANET:474 CEP120 153241 HP:0002652 Skeletal dysplasia ORPHANET:474 CEP120 153241 HP:0001830 Postaxial foot polydactyly ORPHANET:474 CEP120 153241 HP:0001770 Toe syndactyly ORPHANET:474 CEP120 153241 HP:0000766 Abnormality of the sternum ORPHANET:474 CEP120 153241 HP:0000774 Narrow chest ORPHANET:474 CEP120 153241 HP:0008872 Feeding difficulties in infancy ORPHANET:474 CEP120 153241 HP:0001162 Postaxial hand polydactyly ORPHANET:474 CEP120 153241 HP:0007703 Abnormal retinal pigmentation ORPHANET:474 CEP120 153241 HP:0010306 Short thorax ORPHANET:474 IFT80 57560 HP:0002644 Abnormality of pelvic girdle bone morphology ORPHANET:474 IFT80 57560 HP:0000083 Renal insufficiency ORPHANET:474 IFT80 57560 HP:0000772 Abnormality of the ribs ORPHANET:474 IFT80 57560 HP:0006703 Aplasia/Hypoplasia of the lungs ORPHANET:474 IFT80 57560 HP:0002983 Micromelia ORPHANET:474 IFT80 57560 HP:0010579 Cone-shaped epiphysis ORPHANET:474 IFT80 57560 HP:0002093 Respiratory insufficiency ORPHANET:474 IFT80 57560 HP:0000889 Abnormality of the clavicle ORPHANET:474 IFT80 57560 HP:0004322 Short stature ORPHANET:474 IFT80 57560 HP:0001831 Short toe ORPHANET:474 IFT80 57560 HP:0000944 Abnormality of the metaphyses ORPHANET:474 IFT80 57560 HP:0000112 Nephropathy ORPHANET:474 IFT80 57560 HP:0001156 Brachydactyly syndrome ORPHANET:474 IFT80 57560 HP:0001392 Abnormality of the liver ORPHANET:474 IFT80 57560 HP:0002652 Skeletal dysplasia ORPHANET:474 IFT80 57560 HP:0001830 Postaxial foot polydactyly ORPHANET:474 IFT80 57560 HP:0001770 Toe syndactyly ORPHANET:474 IFT80 57560 HP:0000766 Abnormality of the sternum ORPHANET:474 IFT80 57560 HP:0000774 Narrow chest ORPHANET:474 IFT80 57560 HP:0008872 Feeding difficulties in infancy ORPHANET:474 IFT80 57560 HP:0001162 Postaxial hand polydactyly ORPHANET:474 IFT80 57560 HP:0007703 Abnormal retinal pigmentation ORPHANET:474 IFT80 57560 HP:0010306 Short thorax ORPHANET:474 WDR34 89891 HP:0002644 Abnormality of pelvic girdle bone morphology ORPHANET:474 WDR34 89891 HP:0000083 Renal insufficiency ORPHANET:474 WDR34 89891 HP:0000772 Abnormality of the ribs ORPHANET:474 WDR34 89891 HP:0006703 Aplasia/Hypoplasia of the lungs ORPHANET:474 WDR34 89891 HP:0002983 Micromelia ORPHANET:474 WDR34 89891 HP:0010579 Cone-shaped epiphysis ORPHANET:474 WDR34 89891 HP:0002093 Respiratory insufficiency ORPHANET:474 WDR34 89891 HP:0000889 Abnormality of the clavicle ORPHANET:474 WDR34 89891 HP:0004322 Short stature ORPHANET:474 WDR34 89891 HP:0001831 Short toe ORPHANET:474 WDR34 89891 HP:0000944 Abnormality of the metaphyses ORPHANET:474 WDR34 89891 HP:0000112 Nephropathy ORPHANET:474 WDR34 89891 HP:0001156 Brachydactyly syndrome ORPHANET:474 WDR34 89891 HP:0001392 Abnormality of the liver ORPHANET:474 WDR34 89891 HP:0002652 Skeletal dysplasia ORPHANET:474 WDR34 89891 HP:0001830 Postaxial foot polydactyly ORPHANET:474 WDR34 89891 HP:0001770 Toe syndactyly ORPHANET:474 WDR34 89891 HP:0000766 Abnormality of the sternum ORPHANET:474 WDR34 89891 HP:0000774 Narrow chest ORPHANET:474 WDR34 89891 HP:0008872 Feeding difficulties in infancy ORPHANET:474 WDR34 89891 HP:0001162 Postaxial hand polydactyly ORPHANET:474 WDR34 89891 HP:0007703 Abnormal retinal pigmentation ORPHANET:474 WDR34 89891 HP:0010306 Short thorax ORPHANET:474 WDR60 55112 HP:0002644 Abnormality of pelvic girdle bone morphology ORPHANET:474 WDR60 55112 HP:0000083 Renal insufficiency ORPHANET:474 WDR60 55112 HP:0000772 Abnormality of the ribs ORPHANET:474 WDR60 55112 HP:0006703 Aplasia/Hypoplasia of the lungs ORPHANET:474 WDR60 55112 HP:0002983 Micromelia ORPHANET:474 WDR60 55112 HP:0010579 Cone-shaped epiphysis ORPHANET:474 WDR60 55112 HP:0002093 Respiratory insufficiency ORPHANET:474 WDR60 55112 HP:0000889 Abnormality of the clavicle ORPHANET:474 WDR60 55112 HP:0004322 Short stature ORPHANET:474 WDR60 55112 HP:0001831 Short toe ORPHANET:474 WDR60 55112 HP:0000944 Abnormality of the metaphyses ORPHANET:474 WDR60 55112 HP:0000112 Nephropathy ORPHANET:474 WDR60 55112 HP:0001156 Brachydactyly syndrome ORPHANET:474 WDR60 55112 HP:0001392 Abnormality of the liver ORPHANET:474 WDR60 55112 HP:0002652 Skeletal dysplasia ORPHANET:474 WDR60 55112 HP:0001830 Postaxial foot polydactyly ORPHANET:474 WDR60 55112 HP:0001770 Toe syndactyly ORPHANET:474 WDR60 55112 HP:0000766 Abnormality of the sternum ORPHANET:474 WDR60 55112 HP:0000774 Narrow chest ORPHANET:474 WDR60 55112 HP:0008872 Feeding difficulties in infancy ORPHANET:474 WDR60 55112 HP:0001162 Postaxial hand polydactyly ORPHANET:474 WDR60 55112 HP:0007703 Abnormal retinal pigmentation ORPHANET:474 WDR60 55112 HP:0010306 Short thorax OMIM:192605 GNAI2 2771 HP:0000006 Autosomal dominant inheritance OMIM:192605 GNAI2 2771 HP:0001645 Sudden cardiac death OMIM:192605 GNAI2 2771 HP:0004751 Paroxysmal ventricular tachycardia OMIM:192605 GNAI2 2771 HP:0001939 Abnormality of metabolism/homeostasis OMIM:615725 SLC7A14 57709 HP:0000662 Night blindness OMIM:615725 SLC7A14 57709 HP:0000007 Autosomal recessive inheritance OMIM:615725 SLC7A14 57709 HP:0000510 Retinitis pigmentosa OMIM:615725 SLC7A14 57709 HP:0001105 Retinal atrophy OMIM:615725 SLC7A14 57709 HP:0001123 Visual field defect OMIM:516020 CYTB 4519 HP:0001427 Mitochondrial inheritance OMIM:516020 CYTB 4519 HP:0002315 Headache OMIM:516020 CYTB 4519 HP:0000543 Optic disc pallor OMIM:516020 CYTB 4519 HP:0001129 Large central visual field defect OMIM:516020 CYTB 4519 HP:0001085 Papilledema OMIM:516020 CYTB 4519 HP:0003674 Onset OMIM:516020 CYTB 4519 HP:0001939 Abnormality of metabolism/homeostasis OMIM:516020 CYTB 4519 HP:0001112 Leber optic atrophy OMIM:516020 CYTB 4519 HP:0001117 Sudden central visual loss OMIM:613495 MS4A1 931 HP:0000007 Autosomal recessive inheritance OMIM:613495 MS4A1 931 HP:0002718 Recurrent bacterial infections OMIM:613495 MS4A1 931 HP:0004313 Hypogammaglobulinemia OMIM:613495 MS4A1 931 HP:0002721 Immunodeficiency OMIM:613495 MS4A1 931 HP:0002205 Recurrent respiratory infections OMIM:516030 COX1 4512 HP:0002315 Headache OMIM:516030 COX1 4512 HP:0001129 Large central visual field defect OMIM:516030 COX1 4512 HP:0001112 Leber optic atrophy OMIM:516030 COX1 4512 HP:0001939 Abnormality of metabolism/homeostasis OMIM:516030 COX1 4512 HP:0003674 Onset OMIM:516030 COX1 4512 HP:0001117 Sudden central visual loss OMIM:516030 COX1 4512 HP:0000543 Optic disc pallor OMIM:516030 COX1 4512 HP:0001427 Mitochondrial inheritance OMIM:516030 COX1 4512 HP:0001085 Papilledema OMIM:223900 IKBKAP 8518 HP:0001063 Acrocyanosis OMIM:223900 IKBKAP 8518 HP:0012804 Corneal ulceration OMIM:223900 IKBKAP 8518 HP:0002650 Scoliosis OMIM:223900 IKBKAP 8518 HP:0002103 Abnormality of the pleura OMIM:223900 IKBKAP 8518 HP:0001252 Muscular hypotonia OMIM:223900 IKBKAP 8518 HP:0001100 Heterochromia iridis OMIM:223900 IKBKAP 8518 HP:0000083 Renal insufficiency OMIM:223900 IKBKAP 8518 HP:0000975 Hyperhidrosis OMIM:223900 IKBKAP 8518 HP:0008000 Decreased corneal reflex OMIM:223900 IKBKAP 8518 HP:0012211 Abnormal renal physiology OMIM:223900 IKBKAP 8518 HP:0001288 Gait disturbance OMIM:223900 IKBKAP 8518 HP:0002311 Incoordination OMIM:223900 IKBKAP 8518 HP:0000522 Alacrima OMIM:223900 IKBKAP 8518 HP:0002902 Hyponatremia OMIM:223900 IKBKAP 8518 HP:0003259 Elevated serum creatinine OMIM:223900 IKBKAP 8518 HP:0011675 Arrhythmia OMIM:223900 IKBKAP 8518 HP:0002020 Gastroesophageal reflux OMIM:223900 IKBKAP 8518 HP:0002047 Malignant hyperthermia OMIM:223900 IKBKAP 8518 HP:0002585 Abnormality of the peritoneum OMIM:223900 IKBKAP 8518 HP:0007328 Impaired pain sensation OMIM:223900 IKBKAP 8518 HP:0003387 Decreased number of large peripheral myelinated nerve fibers OMIM:223900 IKBKAP 8518 HP:0002013 Vomiting OMIM:223900 IKBKAP 8518 HP:0004891 Recurrent infections due to aspiration OMIM:223900 IKBKAP 8518 HP:0000615 Abnormality of the pupil OMIM:223900 IKBKAP 8518 HP:0000822 Hypertension OMIM:223900 IKBKAP 8518 HP:0000648 Optic atrophy OMIM:223900 IKBKAP 8518 HP:0001649 Tachycardia OMIM:223900 IKBKAP 8518 HP:0001954 Episodic fever OMIM:223900 IKBKAP 8518 HP:0001250 Seizures OMIM:223900 IKBKAP 8518 HP:0000007 Autosomal recessive inheritance OMIM:223900 IKBKAP 8518 HP:0002014 Diarrhea OMIM:223900 IKBKAP 8518 HP:0001315 Reduced tendon reflexes OMIM:223900 IKBKAP 8518 HP:0003138 Increased blood urea nitrogen (BUN) OMIM:223900 IKBKAP 8518 HP:0005947 Decreased sensitivity to hypoxemia OMIM:223900 IKBKAP 8518 HP:0000708 Behavioral abnormality OMIM:223900 IKBKAP 8518 HP:0001510 Growth delay OMIM:223900 IKBKAP 8518 HP:0000966 Hypohidrosis OMIM:223900 IKBKAP 8518 HP:0002019 Constipation OMIM:223900 IKBKAP 8518 HP:0003457 EMG abnormality OMIM:223900 IKBKAP 8518 HP:0000096 Glomerulosclerosis OMIM:223900 IKBKAP 8518 HP:0002797 Osteolysis OMIM:223900 IKBKAP 8518 HP:0000545 Myopia OMIM:223900 IKBKAP 8518 HP:0010885 Aseptic necrosis OMIM:223900 IKBKAP 8518 HP:0008872 Feeding difficulties in infancy OMIM:223900 IKBKAP 8518 HP:0007759 Opacification of the corneal stroma OMIM:223900 IKBKAP 8518 HP:0002757 Recurrent fractures OMIM:223900 IKBKAP 8518 HP:0002615 Hypotension OMIM:223900 IKBKAP 8518 HP:0001069 Episodic hyperhidrosis OMIM:223900 IKBKAP 8518 HP:0002821 Neuropathic arthropathy OMIM:223900 IKBKAP 8518 HP:0002205 Recurrent respiratory infections OMIM:223900 IKBKAP 8518 HP:0200020 Corneal erosion OMIM:223900 IKBKAP 8518 HP:0001278 Orthostatic hypotension OMIM:223900 IKBKAP 8518 HP:0000224 Decreased taste sensation OMIM:223900 IKBKAP 8518 HP:0001265 Hyporeflexia OMIM:223900 IKBKAP 8518 HP:0000712 Emotional lability OMIM:223900 IKBKAP 8518 HP:0003676 Progressive disorder OMIM:223900 IKBKAP 8518 HP:0100820 Glomerulopathy OMIM:223900 IKBKAP 8518 HP:0003577 Congenital onset OMIM:223900 IKBKAP 8518 HP:0000495 Recurrent corneal erosions OMIM:611291 NHEJ1 79840 HP:0005105 Abnormal nasal morphology OMIM:611291 NHEJ1 79840 HP:0000444 Convex nasal ridge OMIM:611291 NHEJ1 79840 HP:0000252 Microcephaly OMIM:611291 NHEJ1 79840 HP:0005374 Cellular immunodeficiency OMIM:611291 NHEJ1 79840 HP:0002960 Autoimmunity OMIM:611291 NHEJ1 79840 HP:0000347 Micrognathia OMIM:611291 NHEJ1 79840 HP:0001888 Lymphopenia OMIM:611291 NHEJ1 79840 HP:0004313 Hypogammaglobulinemia OMIM:611291 NHEJ1 79840 HP:0001903 Anemia OMIM:611291 NHEJ1 79840 HP:0000340 Sloping forehead OMIM:611291 NHEJ1 79840 HP:0001873 Thrombocytopenia OMIM:300243 SLC9A6 10479 HP:0002487 Hyperkinesis OMIM:300243 SLC9A6 10479 HP:0000276 Long face OMIM:300243 SLC9A6 10479 HP:0002078 Truncal ataxia OMIM:300243 SLC9A6 10479 HP:0006887 Intellectual disability, progressive OMIM:300243 SLC9A6 10479 HP:0000020 Urinary incontinence OMIM:300243 SLC9A6 10479 HP:0001263 Global developmental delay OMIM:300243 SLC9A6 10479 HP:0001250 Seizures OMIM:300243 SLC9A6 10479 HP:0001371 Flexion contracture OMIM:300243 SLC9A6 10479 HP:0100543 Cognitive impairment OMIM:300243 SLC9A6 10479 HP:0000252 Microcephaly OMIM:300243 SLC9A6 10479 HP:0000490 Deeply set eye OMIM:300243 SLC9A6 10479 HP:0010864 Intellectual disability, severe OMIM:300243 SLC9A6 10479 HP:0000400 Macrotia OMIM:300243 SLC9A6 10479 HP:0000774 Narrow chest OMIM:300243 SLC9A6 10479 HP:0001423 X-linked dominant inheritance OMIM:300243 SLC9A6 10479 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:300243 SLC9A6 10479 HP:0000574 Thick eyebrow OMIM:300243 SLC9A6 10479 HP:0002607 Bowel incontinence OMIM:300243 SLC9A6 10479 HP:0004325 Decreased body weight OMIM:300243 SLC9A6 10479 HP:0006794 Loss of ability to walk in first decade OMIM:300243 SLC9A6 10479 HP:0000486 Strabismus OMIM:300243 SLC9A6 10479 HP:0000767 Pectus excavatum OMIM:300243 SLC9A6 10479 HP:0001344 Absent speech OMIM:300243 SLC9A6 10479 HP:0002167 Neurological speech impairment OMIM:300243 SLC9A6 10479 HP:0000602 Ophthalmoplegia OMIM:300243 SLC9A6 10479 HP:0000597 Ophthalmoparesis OMIM:300243 SLC9A6 10479 HP:0002015 Dysphagia OMIM:300243 SLC9A6 10479 HP:0000303 Mandibular prognathia OMIM:300243 SLC9A6 10479 HP:0003202 Skeletal muscle atrophy OMIM:300243 SLC9A6 10479 HP:0000275 Narrow face OMIM:300243 SLC9A6 10479 HP:0001181 Adducted thumb OMIM:300243 SLC9A6 10479 HP:0007207 Photosensitive tonic-clonic seizures OMIM:300243 SLC9A6 10479 HP:0002119 Ventriculomegaly OMIM:300243 SLC9A6 10479 HP:0002804 Arthrogryposis multiplex congenita OMIM:300243 SLC9A6 10479 HP:0000717 Autism OMIM:300243 SLC9A6 10479 HP:0002360 Sleep disturbance OMIM:300243 SLC9A6 10479 HP:0002120 Cerebral cortical atrophy OMIM:300243 SLC9A6 10479 HP:0002529 Neuronal loss in central nervous system OMIM:300243 SLC9A6 10479 HP:0001760 Abnormality of the foot OMIM:300243 SLC9A6 10479 HP:0002300 Mutism OMIM:300243 SLC9A6 10479 HP:0000639 Nystagmus OMIM:300243 SLC9A6 10479 HP:0001238 Slender finger OMIM:300243 SLC9A6 10479 HP:0003189 Long nose OMIM:300243 SLC9A6 10479 HP:0001288 Gait disturbance OMIM:300243 SLC9A6 10479 HP:0002311 Incoordination OMIM:300243 SLC9A6 10479 HP:0001272 Cerebellar atrophy OMIM:300243 SLC9A6 10479 HP:0000194 Open mouth OMIM:300243 SLC9A6 10479 HP:0008872 Feeding difficulties in infancy OMIM:300243 SLC9A6 10479 HP:0001382 Joint hypermobility OMIM:300243 SLC9A6 10479 HP:0002307 Drooling OMIM:300243 SLC9A6 10479 HP:0040082 Happy demeanor OMIM:300243 SLC9A6 10479 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:300243 SLC9A6 10479 HP:0001252 Muscular hypotonia OMIM:163950 PTPN11 5781 HP:0000508 Ptosis OMIM:163950 PTPN11 5781 HP:0004859 Amegakaryocytic thrombocytopenia OMIM:163950 PTPN11 5781 HP:0001680 Coarctation of aorta OMIM:163950 PTPN11 5781 HP:0002162 Low posterior hairline OMIM:163950 PTPN11 5781 HP:0000006 Autosomal dominant inheritance OMIM:163950 PTPN11 5781 HP:0001631 Defect in the atrial septum OMIM:163950 PTPN11 5781 HP:0001249 Intellectual disability OMIM:163950 PTPN11 5781 HP:0008897 Postnatal growth retardation OMIM:163950 PTPN11 5781 HP:0002967 Cubitus valgus OMIM:163950 PTPN11 5781 HP:0001642 Pulmonic stenosis OMIM:163950 PTPN11 5781 HP:0000218 High palate OMIM:163950 PTPN11 5781 HP:0001643 Patent ductus arteriosus OMIM:163950 PTPN11 5781 HP:0000316 Hypertelorism OMIM:163950 PTPN11 5781 HP:0001639 Hypertrophic cardiomyopathy OMIM:163950 PTPN11 5781 HP:0000347 Micrognathia OMIM:163950 PTPN11 5781 HP:0004322 Short stature OMIM:163950 PTPN11 5781 HP:0000494 Downslanted palpebral fissures OMIM:163950 PTPN11 5781 HP:0001425 Heterogeneous OMIM:163950 PTPN11 5781 HP:0100769 Synovitis OMIM:163950 PTPN11 5781 HP:0003251 Male infertility OMIM:163950 PTPN11 5781 HP:0000917 Superior pectus carinatum OMIM:163950 PTPN11 5781 HP:0100697 Neurofibrosarcoma OMIM:163950 PTPN11 5781 HP:0001156 Brachydactyly syndrome OMIM:163950 PTPN11 5781 HP:0009466 Radial deviation of finger OMIM:163950 PTPN11 5781 HP:0001531 Failure to thrive in infancy OMIM:163950 PTPN11 5781 HP:0000286 Epicanthus OMIM:163950 PTPN11 5781 HP:0002751 Kyphoscoliosis OMIM:163950 PTPN11 5781 HP:0000135 Hypogonadism OMIM:163950 PTPN11 5781 HP:0000407 Sensorineural hearing impairment OMIM:163950 PTPN11 5781 HP:0000545 Myopia OMIM:163950 PTPN11 5781 HP:0030084 Clinodactyly OMIM:163950 PTPN11 5781 HP:0001892 Abnormal bleeding OMIM:163950 PTPN11 5781 HP:0001629 Ventricular septal defect OMIM:163950 PTPN11 5781 HP:0008357 Reduced factor XIII activity OMIM:163950 PTPN11 5781 HP:0000915 Pectus excavatum of inferior sternum OMIM:163950 PTPN11 5781 HP:0000465 Webbed neck OMIM:163950 PTPN11 5781 HP:0000325 Triangular face OMIM:163950 PTPN11 5781 HP:0001004 Lymphedema OMIM:163950 PTPN11 5781 HP:0000914 Shield chest OMIM:163950 PTPN11 5781 HP:0004841 Reduced factor XII activity OMIM:163950 PTPN11 5781 HP:0000476 Cystic hygroma OMIM:163950 PTPN11 5781 HP:0000470 Short neck OMIM:163950 PTPN11 5781 HP:0000368 Low-set, posteriorly rotated ears OMIM:163950 PTPN11 5781 HP:0000028 Cryptorchidism OMIM:163950 PTPN11 5781 HP:0000689 Dental malocclusion OMIM:137600 PITX2 5308 HP:0007990 Hypoplastic iris stroma OMIM:137600 PITX2 5308 HP:0007730 Iris hypopigmentation OMIM:137600 PITX2 5308 HP:0000501 Glaucoma OMIM:137600 PITX2 5308 HP:0000164 Abnormality of the teeth OMIM:137600 PITX2 5308 HP:0000006 Autosomal dominant inheritance OMIM:137600 PITX2 5308 HP:0001999 Abnormal facial shape ORPHANET:3286 RYR2 6262 HP:0002321 Vertigo ORPHANET:3286 RYR2 6262 HP:0001645 Sudden cardiac death ORPHANET:3286 CALM1 801 HP:0002321 Vertigo ORPHANET:3286 CALM1 801 HP:0001645 Sudden cardiac death ORPHANET:3286 TRDN 10345 HP:0002321 Vertigo ORPHANET:3286 TRDN 10345 HP:0001645 Sudden cardiac death ORPHANET:3286 CASQ2 845 HP:0002321 Vertigo ORPHANET:3286 CASQ2 845 HP:0001645 Sudden cardiac death OMIM:136680 WT1 7490 HP:0000100 Nephrotic syndrome OMIM:136680 WT1 7490 HP:0100820 Glomerulopathy OMIM:136680 WT1 7490 HP:0000786 Primary amenorrhea OMIM:136680 WT1 7490 HP:0000037 Male pseudohermaphroditism OMIM:136680 WT1 7490 HP:0000133 Gonadal dysgenesis OMIM:136680 WT1 7490 HP:0000006 Autosomal dominant inheritance OMIM:136680 WT1 7490 HP:0003774 Stage 5 chronic kidney disease OMIM:136680 WT1 7490 HP:0000097 Focal segmental glomerulosclerosis OMIM:136680 WT1 7490 HP:0000083 Renal insufficiency OMIM:136680 WT1 7490 HP:0001428 Somatic mutation OMIM:136680 WT1 7490 HP:0000093 Proteinuria OMIM:136680 WT1 7490 HP:0000149 Ovarian gonadoblastoma OMIM:158580 SLC5A7 60482 HP:0003693 Distal amyotrophy OMIM:158580 SLC5A7 60482 HP:0003674 Onset OMIM:158580 SLC5A7 60482 HP:0001265 Hyporeflexia OMIM:158580 SLC5A7 60482 HP:0001604 Vocal cord paresis OMIM:158580 SLC5A7 60482 HP:0001605 Vocal cord paralysis OMIM:158580 SLC5A7 60482 HP:0001761 Pes cavus OMIM:158580 SLC5A7 60482 HP:0002355 Difficulty walking OMIM:158580 SLC5A7 60482 HP:0001337 Tremor OMIM:158580 SLC5A7 60482 HP:0009830 Peripheral neuropathy OMIM:158580 SLC5A7 60482 HP:0003677 Slow progression OMIM:158580 SLC5A7 60482 HP:0000006 Autosomal dominant inheritance OMIM:158580 SLC5A7 60482 HP:0002460 Distal muscle weakness OMIM:137440 PRNP 5621 HP:0001300 Parkinsonism OMIM:137440 PRNP 5621 HP:0003812 Phenotypic variability OMIM:137440 PRNP 5621 HP:0000751 Personality changes OMIM:137440 PRNP 5621 HP:0000718 Aggressive behavior OMIM:137440 PRNP 5621 HP:0001260 Dysarthria OMIM:137440 PRNP 5621 HP:0002070 Limb ataxia OMIM:137440 PRNP 5621 HP:0003678 Rapidly progressive OMIM:137440 PRNP 5621 HP:0002063 Rigidity OMIM:137440 PRNP 5621 HP:0030223 Perseveration OMIM:137440 PRNP 5621 HP:0001272 Cerebellar atrophy OMIM:137440 PRNP 5621 HP:0001336 Myoclonus OMIM:137440 PRNP 5621 HP:0001347 Hyperreflexia OMIM:137440 PRNP 5621 HP:0000726 Dementia OMIM:137440 PRNP 5621 HP:0000709 Psychosis OMIM:137440 PRNP 5621 HP:0000006 Autosomal dominant inheritance OMIM:137440 PRNP 5621 HP:0001337 Tremor OMIM:137440 PRNP 5621 HP:0002066 Gait ataxia OMIM:137440 PRNP 5621 HP:0002186 Apraxia OMIM:137440 PRNP 5621 HP:0007340 Lower limb muscle weakness OMIM:137440 PRNP 5621 HP:0000716 Depression OMIM:137440 PRNP 5621 HP:0001284 Areflexia OMIM:137440 PRNP 5621 HP:0002078 Truncal ataxia OMIM:137440 PRNP 5621 HP:0002185 Neurofibrillary tangles OMIM:137440 PRNP 5621 HP:0007772 Impaired smooth pursuit OMIM:137440 PRNP 5621 HP:0000712 Emotional lability OMIM:137440 PRNP 5621 HP:0001824 Weight loss OMIM:137440 PRNP 5621 HP:0001257 Spasticity OMIM:137440 PRNP 5621 HP:0002354 Memory impairment OMIM:137440 PRNP 5621 HP:0003581 Adult onset OMIM:137440 PRNP 5621 HP:0002067 Bradykinesia OMIM:616271 CLPB 81570 HP:0002719 Recurrent infections OMIM:616271 CLPB 81570 HP:0000252 Microcephaly OMIM:616271 CLPB 81570 HP:0001250 Seizures OMIM:616271 CLPB 81570 HP:0002059 Cerebral atrophy OMIM:616271 CLPB 81570 HP:0002376 Developmental regression OMIM:616271 CLPB 81570 HP:0001272 Cerebellar atrophy OMIM:616271 CLPB 81570 HP:0011968 Feeding difficulties OMIM:616271 CLPB 81570 HP:0001263 Global developmental delay OMIM:616271 CLPB 81570 HP:0001249 Intellectual disability OMIM:616271 CLPB 81570 HP:0001252 Muscular hypotonia OMIM:616271 CLPB 81570 HP:0001875 Neutropenia OMIM:616271 CLPB 81570 HP:0001999 Abnormal facial shape OMIM:616271 CLPB 81570 HP:0000518 Cataract OMIM:616271 CLPB 81570 HP:0001257 Spasticity OMIM:616271 CLPB 81570 HP:0007256 Abnormal pyramidal signs OMIM:616271 CLPB 81570 HP:0002071 Abnormality of extrapyramidal motor function OMIM:616271 CLPB 81570 HP:0001510 Growth delay OMIM:271400 RPSA 3921 HP:0003593 Infantile onset OMIM:271400 RPSA 3921 HP:0001894 Thrombocytosis OMIM:271400 RPSA 3921 HP:0000006 Autosomal dominant inheritance OMIM:271400 RPSA 3921 HP:0001939 Abnormality of metabolism/homeostasis OMIM:271400 RPSA 3921 HP:0001746 Asplenia OMIM:271400 RPSA 3921 HP:0000007 Autosomal recessive inheritance OMIM:145500 PTGIS 5740 HP:0005117 Elevated diastolic blood pressure OMIM:145500 PTGIS 5740 HP:0004421 Elevated systolic blood pressure OMIM:145500 PTGIS 5740 HP:0004972 Elevated mean arterial pressure OMIM:145500 PTGIS 5740 HP:0001426 Multifactorial inheritance OMIM:614381 POLR3B 55703 HP:0000677 Oligodontia OMIM:614381 POLR3B 55703 HP:0001310 Dysmetria OMIM:614381 POLR3B 55703 HP:0000007 Autosomal recessive inheritance OMIM:614381 POLR3B 55703 HP:0002415 Leukodystrophy OMIM:614381 POLR3B 55703 HP:0006808 Cerebral hypomyelination OMIM:614381 POLR3B 55703 HP:0002080 Intention tremor OMIM:614381 POLR3B 55703 HP:0001151 Impaired horizontal smooth pursuit OMIM:614381 POLR3B 55703 HP:0000044 Hypogonadotrophic hypogonadism OMIM:614381 POLR3B 55703 HP:0001347 Hyperreflexia OMIM:614381 POLR3B 55703 HP:0001260 Dysarthria OMIM:614381 POLR3B 55703 HP:0001256 Intellectual disability, mild OMIM:614381 POLR3B 55703 HP:0000666 Horizontal nystagmus OMIM:227600 F10 2159 HP:0002170 Intracranial hemorrhage OMIM:227600 F10 2159 HP:0012233 Intramuscular hematoma OMIM:227600 F10 2159 HP:0008321 Reduced factor X activity OMIM:227600 F10 2159 HP:0008151 Prolonged prothrombin time OMIM:227600 F10 2159 HP:0000225 Gingival bleeding OMIM:227600 F10 2159 HP:0000421 Epistaxis OMIM:227600 F10 2159 HP:0003645 Prolonged partial thromboplastin time OMIM:227600 F10 2159 HP:0005261 Joint hemorrhage OMIM:227600 F10 2159 HP:0000132 Menorrhagia OMIM:227600 F10 2159 HP:0003828 Variable expressivity OMIM:227600 F10 2159 HP:0000007 Autosomal recessive inheritance OMIM:607855 LAMA2 3908 HP:0003577 Congenital onset OMIM:607855 LAMA2 3908 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:607855 LAMA2 3908 HP:0001249 Intellectual disability OMIM:607855 LAMA2 3908 HP:0002751 Kyphoscoliosis OMIM:607855 LAMA2 3908 HP:0003741 Congenital muscular dystrophy OMIM:607855 LAMA2 3908 HP:0001284 Areflexia OMIM:607855 LAMA2 3908 HP:0000602 Ophthalmoplegia OMIM:607855 LAMA2 3908 HP:0007103 Hypointensity of cerebral white matter on MRI OMIM:607855 LAMA2 3908 HP:0001371 Flexion contracture OMIM:607855 LAMA2 3908 HP:0002536 Abnormal cortical gyration OMIM:607855 LAMA2 3908 HP:0000007 Autosomal recessive inheritance OMIM:607855 LAMA2 3908 HP:0001250 Seizures OMIM:607855 LAMA2 3908 HP:0001270 Motor delay OMIM:607855 LAMA2 3908 HP:0001252 Muscular hypotonia OMIM:607855 LAMA2 3908 HP:0008872 Feeding difficulties in infancy OMIM:607855 LAMA2 3908 HP:0003560 Muscular dystrophy OMIM:607855 LAMA2 3908 HP:0003236 Elevated serum creatine phosphokinase OMIM:614732 CDKN1C 1028 HP:0008897 Postnatal growth retardation OMIM:614732 CDKN1C 1028 HP:0000824 Growth hormone deficiency OMIM:614732 CDKN1C 1028 HP:0000369 Low-set ears OMIM:614732 CDKN1C 1028 HP:0003072 Hypercalcemia OMIM:614732 CDKN1C 1028 HP:0005280 Depressed nasal bridge OMIM:614732 CDKN1C 1028 HP:0100255 Metaphyseal dysplasia OMIM:614732 CDKN1C 1028 HP:0000835 Adrenal hypoplasia OMIM:614732 CDKN1C 1028 HP:0002007 Frontal bossing OMIM:614732 CDKN1C 1028 HP:0000028 Cryptorchidism OMIM:614732 CDKN1C 1028 HP:0100627 Displacement of the external urethral meatus OMIM:614732 CDKN1C 1028 HP:0000834 Abnormality of the adrenal glands OMIM:614732 CDKN1C 1028 HP:0001511 Intrauterine growth retardation OMIM:614732 CDKN1C 1028 HP:0000256 Macrocephaly OMIM:614732 CDKN1C 1028 HP:0001252 Muscular hypotonia OMIM:614732 CDKN1C 1028 HP:0002750 Delayed skeletal maturation OMIM:614732 CDKN1C 1028 HP:0011220 Prominent forehead OMIM:614732 CDKN1C 1028 HP:0000006 Autosomal dominant inheritance OMIM:614732 CDKN1C 1028 HP:0002150 Hypercalciuria OMIM:614732 CDKN1C 1028 HP:0002656 Epiphyseal dysplasia OMIM:614732 CDKN1C 1028 HP:0001263 Global developmental delay OMIM:614732 CDKN1C 1028 HP:0002983 Micromelia OMIM:614732 CDKN1C 1028 HP:0000047 Hypospadias OMIM:614732 CDKN1C 1028 HP:0010935 Abnormality of the upper urinary tract OMIM:614732 CDKN1C 1028 HP:0000368 Low-set, posteriorly rotated ears OMIM:614732 CDKN1C 1028 HP:0000054 Micropenis OMIM:614732 CDKN1C 1028 HP:0003196 Short nose OMIM:276300 MSH2 4436 HP:0003401 Paresthesia OMIM:276300 MSH2 4436 HP:0001123 Visual field defect OMIM:276300 MSH2 4436 HP:0007256 Abnormal pyramidal signs OMIM:276300 MSH2 4436 HP:0004374 Hemiplegia/hemiparesis OMIM:276300 MSH2 4436 HP:0001288 Gait disturbance OMIM:276300 MSH2 4436 HP:0100273 Neoplasm of the colon OMIM:276300 MSH2 4436 HP:0002017 Nausea and vomiting OMIM:276300 MSH2 4436 HP:0008069 Neoplasm of the skin OMIM:276300 MSH2 4436 HP:0010524 Agnosia OMIM:276300 MSH2 4436 HP:0007018 Attention deficit hyperactivity disorder OMIM:276300 MSH2 4436 HP:0002896 Neoplasm of the liver OMIM:276300 MSH2 4436 HP:0001034 Hypermelanotic macule OMIM:276300 MSH2 4436 HP:0100843 Glioblastoma OMIM:276300 MSH2 4436 HP:0002516 Increased intracranial pressure OMIM:276300 MSH2 4436 HP:0200008 Intestinal polyposis OMIM:276300 MSH2 4436 HP:0100743 Neoplasm of the rectum OMIM:276300 MSH2 4436 HP:0001276 Hypertonia OMIM:276300 MSH2 4436 HP:0100031 Neoplasm of the thyroid gland OMIM:276300 MSH2 4436 HP:0100242 Sarcoma OMIM:276300 MSH2 4436 HP:0001438 Abnormality of the abdomen OMIM:276300 MSH2 4436 HP:0001252 Muscular hypotonia OMIM:276300 MSH2 4436 HP:0000997 Axillary freckling OMIM:276300 MSH2 4436 HP:0002076 Migraine OMIM:276300 MSH2 4436 HP:0002859 Rhabdomyosarcoma OMIM:276300 MSH2 4436 HP:0000957 Cafe-au-lait spot OMIM:276300 MSH2 4436 HP:0000738 Hallucinations OMIM:276300 MSH2 4436 HP:0100576 Amaurosis fugax OMIM:276300 MSH2 4436 HP:0002665 Lymphoma OMIM:276300 MSH2 4436 HP:0002027 Abdominal pain OMIM:276300 MSH2 4436 HP:0010622 Neoplasm of the skeletal system OMIM:276300 MSH2 4436 HP:0002376 Developmental regression OMIM:276300 MSH2 4436 HP:0002885 Medulloblastoma OMIM:276300 MSH2 4436 HP:0002239 Gastrointestinal hemorrhage OMIM:276300 MSH2 4436 HP:0002019 Constipation OMIM:276300 MSH2 4436 HP:0002671 Basal cell carcinoma OMIM:276300 MSH2 4436 HP:0002894 Neoplasm of the pancreas OMIM:276300 MSH2 4436 HP:0002167 Neurological speech impairment OMIM:276300 MSH2 4436 HP:0003006 Neuroblastoma OMIM:276300 MSH2 4436 HP:0001824 Weight loss OMIM:276300 MSH2 4436 HP:0100835 Benign neoplasm of the central nervous system OMIM:276300 MSH2 4436 HP:0001909 Leukemia OMIM:276300 MSH2 4436 HP:0001371 Flexion contracture OMIM:276300 MSH2 4436 HP:0002888 Ependymoma OMIM:276300 MSH2 4436 HP:0001250 Seizures OMIM:276300 MSH2 4436 HP:0010784 Uterine neoplasm OMIM:276300 MSH2 4436 HP:0009733 Glioma OMIM:276300 MSH2 4436 HP:0100615 Ovarian neoplasm OMIM:276300 MSH2 4436 HP:0010786 Urinary tract neoplasm OMIM:276300 MSH2 4436 HP:0000007 Autosomal recessive inheritance OMIM:276300 MSH2 4436 HP:0002354 Memory impairment OMIM:276300 MSH2 4436 HP:0001274 Agenesis of corpus callosum OMIM:276300 MSH2 4436 HP:0002024 Malabsorption OMIM:276300 MSH6 2956 HP:0003401 Paresthesia OMIM:276300 MSH6 2956 HP:0001123 Visual field defect OMIM:276300 MSH6 2956 HP:0007256 Abnormal pyramidal signs OMIM:276300 MSH6 2956 HP:0004374 Hemiplegia/hemiparesis OMIM:276300 MSH6 2956 HP:0001288 Gait disturbance OMIM:276300 MSH6 2956 HP:0100273 Neoplasm of the colon OMIM:276300 MSH6 2956 HP:0002017 Nausea and vomiting OMIM:276300 MSH6 2956 HP:0008069 Neoplasm of the skin OMIM:276300 MSH6 2956 HP:0010524 Agnosia OMIM:276300 MSH6 2956 HP:0007018 Attention deficit hyperactivity disorder OMIM:276300 MSH6 2956 HP:0002896 Neoplasm of the liver OMIM:276300 MSH6 2956 HP:0001034 Hypermelanotic macule OMIM:276300 MSH6 2956 HP:0100843 Glioblastoma OMIM:276300 MSH6 2956 HP:0002516 Increased intracranial pressure OMIM:276300 MSH6 2956 HP:0200008 Intestinal polyposis OMIM:276300 MSH6 2956 HP:0100743 Neoplasm of the rectum OMIM:276300 MSH6 2956 HP:0001276 Hypertonia OMIM:276300 MSH6 2956 HP:0100031 Neoplasm of the thyroid gland OMIM:276300 MSH6 2956 HP:0100242 Sarcoma OMIM:276300 MSH6 2956 HP:0001438 Abnormality of the abdomen OMIM:276300 MSH6 2956 HP:0001252 Muscular hypotonia OMIM:276300 MSH6 2956 HP:0000997 Axillary freckling OMIM:276300 MSH6 2956 HP:0002076 Migraine OMIM:276300 MSH6 2956 HP:0002859 Rhabdomyosarcoma OMIM:276300 MSH6 2956 HP:0000957 Cafe-au-lait spot OMIM:276300 MSH6 2956 HP:0000738 Hallucinations OMIM:276300 MSH6 2956 HP:0100576 Amaurosis fugax OMIM:276300 MSH6 2956 HP:0002665 Lymphoma OMIM:276300 MSH6 2956 HP:0002027 Abdominal pain OMIM:276300 MSH6 2956 HP:0010622 Neoplasm of the skeletal system OMIM:276300 MSH6 2956 HP:0002376 Developmental regression OMIM:276300 MSH6 2956 HP:0002885 Medulloblastoma OMIM:276300 MSH6 2956 HP:0002239 Gastrointestinal hemorrhage OMIM:276300 MSH6 2956 HP:0002019 Constipation OMIM:276300 MSH6 2956 HP:0002671 Basal cell carcinoma OMIM:276300 MSH6 2956 HP:0002894 Neoplasm of the pancreas OMIM:276300 MSH6 2956 HP:0002167 Neurological speech impairment OMIM:276300 MSH6 2956 HP:0003006 Neuroblastoma OMIM:276300 MSH6 2956 HP:0001824 Weight loss OMIM:276300 MSH6 2956 HP:0100835 Benign neoplasm of the central nervous system OMIM:276300 MSH6 2956 HP:0001909 Leukemia OMIM:276300 MSH6 2956 HP:0001371 Flexion contracture OMIM:276300 MSH6 2956 HP:0002888 Ependymoma OMIM:276300 MSH6 2956 HP:0001250 Seizures OMIM:276300 MSH6 2956 HP:0010784 Uterine neoplasm OMIM:276300 MSH6 2956 HP:0009733 Glioma OMIM:276300 MSH6 2956 HP:0100615 Ovarian neoplasm OMIM:276300 MSH6 2956 HP:0010786 Urinary tract neoplasm OMIM:276300 MSH6 2956 HP:0000007 Autosomal recessive inheritance OMIM:276300 MSH6 2956 HP:0002354 Memory impairment OMIM:276300 MSH6 2956 HP:0001274 Agenesis of corpus callosum OMIM:276300 MSH6 2956 HP:0002024 Malabsorption OMIM:276300 MLH1 4292 HP:0003401 Paresthesia OMIM:276300 MLH1 4292 HP:0001123 Visual field defect OMIM:276300 MLH1 4292 HP:0007256 Abnormal pyramidal signs OMIM:276300 MLH1 4292 HP:0004374 Hemiplegia/hemiparesis OMIM:276300 MLH1 4292 HP:0001288 Gait disturbance OMIM:276300 MLH1 4292 HP:0100273 Neoplasm of the colon OMIM:276300 MLH1 4292 HP:0002017 Nausea and vomiting OMIM:276300 MLH1 4292 HP:0008069 Neoplasm of the skin OMIM:276300 MLH1 4292 HP:0010524 Agnosia OMIM:276300 MLH1 4292 HP:0007018 Attention deficit hyperactivity disorder OMIM:276300 MLH1 4292 HP:0002896 Neoplasm of the liver OMIM:276300 MLH1 4292 HP:0001034 Hypermelanotic macule OMIM:276300 MLH1 4292 HP:0100843 Glioblastoma OMIM:276300 MLH1 4292 HP:0002516 Increased intracranial pressure OMIM:276300 MLH1 4292 HP:0200008 Intestinal polyposis OMIM:276300 MLH1 4292 HP:0100743 Neoplasm of the rectum OMIM:276300 MLH1 4292 HP:0001276 Hypertonia OMIM:276300 MLH1 4292 HP:0100031 Neoplasm of the thyroid gland OMIM:276300 MLH1 4292 HP:0100242 Sarcoma OMIM:276300 MLH1 4292 HP:0001438 Abnormality of the abdomen OMIM:276300 MLH1 4292 HP:0001252 Muscular hypotonia OMIM:276300 MLH1 4292 HP:0000997 Axillary freckling OMIM:276300 MLH1 4292 HP:0002076 Migraine OMIM:276300 MLH1 4292 HP:0002859 Rhabdomyosarcoma OMIM:276300 MLH1 4292 HP:0000957 Cafe-au-lait spot OMIM:276300 MLH1 4292 HP:0000738 Hallucinations OMIM:276300 MLH1 4292 HP:0100576 Amaurosis fugax OMIM:276300 MLH1 4292 HP:0002665 Lymphoma OMIM:276300 MLH1 4292 HP:0002027 Abdominal pain OMIM:276300 MLH1 4292 HP:0010622 Neoplasm of the skeletal system OMIM:276300 MLH1 4292 HP:0002376 Developmental regression OMIM:276300 MLH1 4292 HP:0002885 Medulloblastoma OMIM:276300 MLH1 4292 HP:0002239 Gastrointestinal hemorrhage OMIM:276300 MLH1 4292 HP:0002019 Constipation OMIM:276300 MLH1 4292 HP:0002671 Basal cell carcinoma OMIM:276300 MLH1 4292 HP:0002894 Neoplasm of the pancreas OMIM:276300 MLH1 4292 HP:0002167 Neurological speech impairment OMIM:276300 MLH1 4292 HP:0003006 Neuroblastoma OMIM:276300 MLH1 4292 HP:0001824 Weight loss OMIM:276300 MLH1 4292 HP:0100835 Benign neoplasm of the central nervous system OMIM:276300 MLH1 4292 HP:0001909 Leukemia OMIM:276300 MLH1 4292 HP:0001371 Flexion contracture OMIM:276300 MLH1 4292 HP:0002888 Ependymoma OMIM:276300 MLH1 4292 HP:0001250 Seizures OMIM:276300 MLH1 4292 HP:0010784 Uterine neoplasm OMIM:276300 MLH1 4292 HP:0009733 Glioma OMIM:276300 MLH1 4292 HP:0100615 Ovarian neoplasm OMIM:276300 MLH1 4292 HP:0010786 Urinary tract neoplasm OMIM:276300 MLH1 4292 HP:0000007 Autosomal recessive inheritance OMIM:276300 MLH1 4292 HP:0002354 Memory impairment OMIM:276300 MLH1 4292 HP:0001274 Agenesis of corpus callosum OMIM:276300 MLH1 4292 HP:0002024 Malabsorption OMIM:276300 PMS2 5395 HP:0003401 Paresthesia OMIM:276300 PMS2 5395 HP:0001123 Visual field defect OMIM:276300 PMS2 5395 HP:0007256 Abnormal pyramidal signs OMIM:276300 PMS2 5395 HP:0004374 Hemiplegia/hemiparesis OMIM:276300 PMS2 5395 HP:0001288 Gait disturbance OMIM:276300 PMS2 5395 HP:0100273 Neoplasm of the colon OMIM:276300 PMS2 5395 HP:0002017 Nausea and vomiting OMIM:276300 PMS2 5395 HP:0008069 Neoplasm of the skin OMIM:276300 PMS2 5395 HP:0010524 Agnosia OMIM:276300 PMS2 5395 HP:0007018 Attention deficit hyperactivity disorder OMIM:276300 PMS2 5395 HP:0002896 Neoplasm of the liver OMIM:276300 PMS2 5395 HP:0001034 Hypermelanotic macule OMIM:276300 PMS2 5395 HP:0100843 Glioblastoma OMIM:276300 PMS2 5395 HP:0002516 Increased intracranial pressure OMIM:276300 PMS2 5395 HP:0200008 Intestinal polyposis OMIM:276300 PMS2 5395 HP:0100743 Neoplasm of the rectum OMIM:276300 PMS2 5395 HP:0001276 Hypertonia OMIM:276300 PMS2 5395 HP:0100031 Neoplasm of the thyroid gland OMIM:276300 PMS2 5395 HP:0100242 Sarcoma OMIM:276300 PMS2 5395 HP:0001438 Abnormality of the abdomen OMIM:276300 PMS2 5395 HP:0001252 Muscular hypotonia OMIM:276300 PMS2 5395 HP:0000997 Axillary freckling OMIM:276300 PMS2 5395 HP:0002076 Migraine OMIM:276300 PMS2 5395 HP:0002859 Rhabdomyosarcoma OMIM:276300 PMS2 5395 HP:0000957 Cafe-au-lait spot OMIM:276300 PMS2 5395 HP:0000738 Hallucinations OMIM:276300 PMS2 5395 HP:0100576 Amaurosis fugax OMIM:276300 PMS2 5395 HP:0002665 Lymphoma OMIM:276300 PMS2 5395 HP:0002027 Abdominal pain OMIM:276300 PMS2 5395 HP:0010622 Neoplasm of the skeletal system OMIM:276300 PMS2 5395 HP:0002376 Developmental regression OMIM:276300 PMS2 5395 HP:0002885 Medulloblastoma OMIM:276300 PMS2 5395 HP:0002239 Gastrointestinal hemorrhage OMIM:276300 PMS2 5395 HP:0002019 Constipation OMIM:276300 PMS2 5395 HP:0002671 Basal cell carcinoma OMIM:276300 PMS2 5395 HP:0002894 Neoplasm of the pancreas OMIM:276300 PMS2 5395 HP:0002167 Neurological speech impairment OMIM:276300 PMS2 5395 HP:0003006 Neuroblastoma OMIM:276300 PMS2 5395 HP:0001824 Weight loss OMIM:276300 PMS2 5395 HP:0100835 Benign neoplasm of the central nervous system OMIM:276300 PMS2 5395 HP:0001909 Leukemia OMIM:276300 PMS2 5395 HP:0001371 Flexion contracture OMIM:276300 PMS2 5395 HP:0002888 Ependymoma OMIM:276300 PMS2 5395 HP:0001250 Seizures OMIM:276300 PMS2 5395 HP:0010784 Uterine neoplasm OMIM:276300 PMS2 5395 HP:0009733 Glioma OMIM:276300 PMS2 5395 HP:0100615 Ovarian neoplasm OMIM:276300 PMS2 5395 HP:0010786 Urinary tract neoplasm OMIM:276300 PMS2 5395 HP:0000007 Autosomal recessive inheritance OMIM:276300 PMS2 5395 HP:0002354 Memory impairment OMIM:276300 PMS2 5395 HP:0001274 Agenesis of corpus callosum OMIM:276300 PMS2 5395 HP:0002024 Malabsorption OMIM:612933 LDHA 3939 HP:0003542 Increased serum pyruvate OMIM:612933 LDHA 3939 HP:0000007 Autosomal recessive inheritance OMIM:612933 LDHA 3939 HP:0003621 Juvenile onset OMIM:612933 LDHA 3939 HP:0003394 Muscle cramps OMIM:612933 LDHA 3939 HP:0002151 Increased serum lactate OMIM:612933 LDHA 3939 HP:0003201 Rhabdomyolysis OMIM:612933 LDHA 3939 HP:0000083 Renal insufficiency OMIM:612933 LDHA 3939 HP:0002913 Myoglobinuria OMIM:612933 LDHA 3939 HP:0003546 Exercise intolerance OMIM:612933 LDHA 3939 HP:0003236 Elevated serum creatine phosphokinase OMIM:612933 LDHA 3939 HP:0003326 Myalgia OMIM:612933 LDHA 3939 HP:0002063 Rigidity OMIM:612933 LDHA 3939 HP:0003552 Muscle stiffness OMIM:131100 MEN1 4221 HP:0003072 Hypercalcemia OMIM:131100 MEN1 4221 HP:0100633 Esophagitis OMIM:131100 MEN1 4221 HP:0100570 Carcinoid tumor OMIM:131100 MEN1 4221 HP:0004295 Abnormality of the gastric mucosa OMIM:131100 MEN1 4221 HP:0001012 Multiple lipomas OMIM:131100 MEN1 4221 HP:0007449 Confetti-like hypopigmented macules OMIM:131100 MEN1 4221 HP:0000006 Autosomal dominant inheritance OMIM:131100 MEN1 4221 HP:0030404 Glucagonoma OMIM:131100 MEN1 4221 HP:0002014 Diarrhea OMIM:131100 MEN1 4221 HP:0001738 Exocrine pancreatic insufficiency OMIM:131100 MEN1 4221 HP:0000845 Growth hormone excess OMIM:131100 MEN1 4221 HP:0002044 Zollinger-Ellison syndrome OMIM:131100 MEN1 4221 HP:0002897 Parathyroid adenoma OMIM:131100 MEN1 4221 HP:0000820 Abnormality of the thyroid gland OMIM:131100 MEN1 4221 HP:0001578 Hypercortisolism OMIM:131100 MEN1 4221 HP:0004398 Peptic ulcer OMIM:131100 MEN1 4221 HP:0008256 Adrenocortical adenoma OMIM:131100 MEN1 4221 HP:0000843 Hyperparathyroidism OMIM:131100 MEN1 4221 HP:0009720 Adenoma sebaceum OMIM:131100 MEN1 4221 HP:0001943 Hypoglycemia OMIM:131100 MEN1 4221 HP:0000957 Cafe-au-lait spot OMIM:131100 MEN1 4221 HP:0006767 Pituitary prolactin cell adenoma OMIM:131100 MEN1 4221 HP:0012197 Insulinoma OMIM:131100 MEN1 4221 HP:0001031 Subcutaneous lipoma OMIM:131100 MEN1 4221 HP:0002893 Pituitary adenoma OMIM:235730 ZEB2 9839 HP:0000494 Downslanted palpebral fissures OMIM:235730 ZEB2 9839 HP:0000684 Delayed eruption of teeth OMIM:235730 ZEB2 9839 HP:0100543 Cognitive impairment OMIM:235730 ZEB2 9839 HP:0009909 Uplifted earlobe OMIM:235730 ZEB2 9839 HP:0000768 Pectus carinatum OMIM:235730 ZEB2 9839 HP:0000006 Autosomal dominant inheritance OMIM:235730 ZEB2 9839 HP:0000767 Pectus excavatum OMIM:235730 ZEB2 9839 HP:0001344 Absent speech OMIM:235730 ZEB2 9839 HP:0000252 Microcephaly OMIM:235730 ZEB2 9839 HP:0009765 Low hanging columella OMIM:235730 ZEB2 9839 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:235730 ZEB2 9839 HP:0000348 High forehead OMIM:235730 ZEB2 9839 HP:0001822 Hallux valgus OMIM:235730 ZEB2 9839 HP:0000194 Open mouth OMIM:235730 ZEB2 9839 HP:0002019 Constipation OMIM:235730 ZEB2 9839 HP:0001629 Ventricular septal defect OMIM:235730 ZEB2 9839 HP:0000565 Esotropia OMIM:235730 ZEB2 9839 HP:0000232 Everted lower lip vermilion OMIM:235730 ZEB2 9839 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:235730 ZEB2 9839 HP:0000612 Iris coloboma OMIM:235730 ZEB2 9839 HP:0011229 Broad eyebrow OMIM:235730 ZEB2 9839 HP:0009748 Large earlobe OMIM:235730 ZEB2 9839 HP:0002307 Drooling OMIM:235730 ZEB2 9839 HP:0000368 Low-set, posteriorly rotated ears OMIM:235730 ZEB2 9839 HP:0002213 Fine hair OMIM:235730 ZEB2 9839 HP:0000286 Epicanthus OMIM:235730 ZEB2 9839 HP:0000307 Pointed chin OMIM:235730 ZEB2 9839 HP:0000047 Hypospadias OMIM:235730 ZEB2 9839 HP:0002251 Aganglionic megacolon OMIM:235730 ZEB2 9839 HP:0100627 Displacement of the external urethral meatus OMIM:235730 ZEB2 9839 HP:0001636 Tetralogy of Fallot OMIM:235730 ZEB2 9839 HP:0010761 Broad columella OMIM:235730 ZEB2 9839 HP:0004322 Short stature OMIM:235730 ZEB2 9839 HP:0000490 Deeply set eye OMIM:235730 ZEB2 9839 HP:0000486 Strabismus OMIM:235730 ZEB2 9839 HP:0000175 Cleft palate OMIM:235730 ZEB2 9839 HP:0001643 Patent ductus arteriosus OMIM:235730 ZEB2 9839 HP:0000431 Wide nasal bridge OMIM:235730 ZEB2 9839 HP:0001252 Muscular hypotonia OMIM:235730 ZEB2 9839 HP:0001841 Preaxial foot polydactyly OMIM:235730 ZEB2 9839 HP:0004298 Abnormality of the abdominal wall OMIM:235730 ZEB2 9839 HP:0002342 Intellectual disability, moderate OMIM:235730 ZEB2 9839 HP:0004961 Pulmonary artery sling OMIM:235730 ZEB2 9839 HP:0100542 Abnormal localization of kidney OMIM:235730 ZEB2 9839 HP:0001547 Abnormality of the rib cage OMIM:235730 ZEB2 9839 HP:0003720 Generalized muscle hypertrophy OMIM:235730 ZEB2 9839 HP:0001939 Abnormality of metabolism/homeostasis OMIM:235730 ZEB2 9839 HP:0000639 Nystagmus OMIM:235730 ZEB2 9839 HP:0001249 Intellectual disability OMIM:235730 ZEB2 9839 HP:0001642 Pulmonic stenosis OMIM:235730 ZEB2 9839 HP:0003270 Abdominal distention OMIM:235730 ZEB2 9839 HP:0000028 Cryptorchidism OMIM:235730 ZEB2 9839 HP:0001250 Seizures OMIM:235730 ZEB2 9839 HP:0040082 Happy demeanor OMIM:235730 ZEB2 9839 HP:0002079 Hypoplasia of the corpus callosum OMIM:235730 ZEB2 9839 HP:0002558 Supernumerary nipple OMIM:235730 ZEB2 9839 HP:0001270 Motor delay OMIM:235730 ZEB2 9839 HP:0000687 Widely spaced teeth OMIM:235730 ZEB2 9839 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:235730 ZEB2 9839 HP:0005274 Prominent nasal tip OMIM:235730 ZEB2 9839 HP:0001869 Deep plantar creases OMIM:235730 ZEB2 9839 HP:0002119 Ventriculomegaly OMIM:235730 ZEB2 9839 HP:0002120 Cerebral cortical atrophy OMIM:235730 ZEB2 9839 HP:0000048 Bifid scrotum OMIM:235730 ZEB2 9839 HP:0004415 Pulmonary artery stenosis OMIM:235730 ZEB2 9839 HP:0002013 Vomiting OMIM:235730 ZEB2 9839 HP:0000204 Cleft upper lip OMIM:235730 ZEB2 9839 HP:0000378 Cupped ear OMIM:235730 ZEB2 9839 HP:0008572 External ear malformation OMIM:235730 ZEB2 9839 HP:0001274 Agenesis of corpus callosum OMIM:235730 ZEB2 9839 HP:0000316 Hypertelorism OMIM:235730 ZEB2 9839 HP:0006101 Finger syndactyly OMIM:235730 ZEB2 9839 HP:0002007 Frontal bossing OMIM:235730 ZEB2 9839 HP:0100490 Camptodactyly of finger OMIM:235730 ZEB2 9839 HP:0000176 Submucous cleft hard palate OMIM:235730 ZEB2 9839 HP:0000508 Ptosis OMIM:235730 ZEB2 9839 HP:0001631 Defect in the atrial septum OMIM:235730 ZEB2 9839 HP:0001182 Tapered finger OMIM:235730 ZEB2 9839 HP:0000076 Vesicoureteral reflux OMIM:235730 ZEB2 9839 HP:0000534 Abnormality of the eyebrow OMIM:305620 FLNA 2316 HP:0002987 Elbow flexion contracture OMIM:305620 FLNA 2316 HP:0000405 Conductive hearing impairment OMIM:305620 FLNA 2316 HP:0001592 Selective tooth agenesis OMIM:305620 FLNA 2316 HP:0000072 Hydroureter OMIM:305620 FLNA 2316 HP:0001249 Intellectual disability OMIM:305620 FLNA 2316 HP:0009768 Broad phalanges of the hand OMIM:305620 FLNA 2316 HP:0006335 Persistence of primary teeth OMIM:305620 FLNA 2316 HP:0001376 Limitation of joint mobility OMIM:305620 FLNA 2316 HP:0000689 Dental malocclusion OMIM:305620 FLNA 2316 HP:0002777 Tracheal stenosis OMIM:305620 FLNA 2316 HP:0001007 Hirsutism OMIM:305620 FLNA 2316 HP:0000684 Delayed eruption of teeth OMIM:305620 FLNA 2316 HP:0000316 Hypertelorism OMIM:305620 FLNA 2316 HP:0003202 Skeletal muscle atrophy OMIM:305620 FLNA 2316 HP:0006665 Coat hanger sign of ribs OMIM:305620 FLNA 2316 HP:0006466 Ankle contracture OMIM:305620 FLNA 2316 HP:0001166 Arachnodactyly OMIM:305620 FLNA 2316 HP:0100490 Camptodactyly of finger OMIM:305620 FLNA 2316 HP:0000126 Hydronephrosis OMIM:305620 FLNA 2316 HP:0006155 Long phalanx of finger OMIM:305620 FLNA 2316 HP:0000795 Abnormality of the urethra OMIM:305620 FLNA 2316 HP:0002857 Genu valgum OMIM:305620 FLNA 2316 HP:0006440 Increased density of long bone diaphyses OMIM:305620 FLNA 2316 HP:0005048 Synostosis of carpal bones OMIM:305620 FLNA 2316 HP:0010307 Stridor OMIM:305620 FLNA 2316 HP:0000307 Pointed chin OMIM:305620 FLNA 2316 HP:0003691 Scapular winging OMIM:305620 FLNA 2316 HP:0001648 Cor pulmonale OMIM:305620 FLNA 2316 HP:0001634 Mitral valve prolapse OMIM:305620 FLNA 2316 HP:0000494 Downslanted palpebral fissures OMIM:305620 FLNA 2316 HP:0006380 Knee flexion contracture OMIM:305620 FLNA 2316 HP:0000280 Coarse facial features OMIM:305620 FLNA 2316 HP:0002673 Coxa valga OMIM:305620 FLNA 2316 HP:0000071 Ureteral stenosis OMIM:305620 FLNA 2316 HP:0001419 X-linked recessive inheritance OMIM:305620 FLNA 2316 HP:0001833 Long foot OMIM:305620 FLNA 2316 HP:0006487 Bowing of the long bones OMIM:305620 FLNA 2316 HP:0000944 Abnormality of the metaphyses OMIM:305620 FLNA 2316 HP:0005616 Accelerated skeletal maturation OMIM:305620 FLNA 2316 HP:0001674 Complete atrioventricular canal defect OMIM:305620 FLNA 2316 HP:0002650 Scoliosis OMIM:305620 FLNA 2316 HP:0002700 Large foramen magnum OMIM:305620 FLNA 2316 HP:0009465 Ulnar deviation of finger OMIM:305620 FLNA 2316 HP:0003312 Abnormal form of the vertebral bodies OMIM:305620 FLNA 2316 HP:0006482 Abnormality of dental morphology OMIM:305620 FLNA 2316 HP:0000407 Sensorineural hearing impairment OMIM:305620 FLNA 2316 HP:0003042 Elbow dislocation OMIM:305620 FLNA 2316 HP:0003779 Antegonial notching of mandible OMIM:305620 FLNA 2316 HP:0000336 Prominent supraorbital ridges OMIM:305620 FLNA 2316 HP:0006207 Partial fusion of carpals OMIM:305620 FLNA 2316 HP:0001239 Wrist flexion contracture OMIM:305620 FLNA 2316 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:305620 FLNA 2316 HP:0004493 Craniofacial hyperostosis OMIM:305620 FLNA 2316 HP:0008097 Partial fusion of tarsals OMIM:305620 FLNA 2316 HP:0000431 Wide nasal bridge OMIM:305620 FLNA 2316 HP:0002687 Abnormality of the frontal sinuses OMIM:305620 FLNA 2316 HP:0000174 Abnormality of the palate OMIM:305620 FLNA 2316 HP:0000331 Short chin OMIM:305620 FLNA 2316 HP:0001363 Craniosynostosis OMIM:305620 FLNA 2316 HP:0000218 High palate OMIM:305620 FLNA 2316 HP:0001600 Abnormality of the larynx OMIM:305620 FLNA 2316 HP:0004608 Anteriorly placed odontoid process OMIM:305620 FLNA 2316 HP:0002949 Fused cervical vertebrae OMIM:305620 FLNA 2316 HP:0000347 Micrognathia OMIM:610798 LAMTOR2 28956 HP:0000280 Coarse facial features OMIM:610798 LAMTOR2 28956 HP:0005374 Cellular immunodeficiency OMIM:610798 LAMTOR2 28956 HP:0002850 IgM deficiency OMIM:610798 LAMTOR2 28956 HP:0007513 Generalized hypopigmentation OMIM:610798 LAMTOR2 28956 HP:0005599 Hypopigmentation of hair OMIM:610798 LAMTOR2 28956 HP:0001875 Neutropenia OMIM:610798 LAMTOR2 28956 HP:0004322 Short stature OMIM:610798 LAMTOR2 28956 HP:0000007 Autosomal recessive inheritance OMIM:610798 LAMTOR2 28956 HP:0006538 Recurrent bronchopulmonary infections ORPHANET:86814 ADRA2B 151 HP:0002353 EEG abnormality ORPHANET:86814 ADRA2B 151 HP:0100576 Amaurosis fugax ORPHANET:86814 ADRA2B 151 HP:0001337 Tremor ORPHANET:86814 ADRA2B 151 HP:0001250 Seizures ORPHANET:86814 ADRA2B 151 HP:0002076 Migraine ORPHANET:86814 ADRA2B 151 HP:0004305 Involuntary movements ORPHANET:86814 ADRA2B 151 HP:0100543 Cognitive impairment ORPHANET:86814 CNTN2 6900 HP:0002353 EEG abnormality ORPHANET:86814 CNTN2 6900 HP:0100576 Amaurosis fugax ORPHANET:86814 CNTN2 6900 HP:0001337 Tremor ORPHANET:86814 CNTN2 6900 HP:0001250 Seizures ORPHANET:86814 CNTN2 6900 HP:0002076 Migraine ORPHANET:86814 CNTN2 6900 HP:0004305 Involuntary movements ORPHANET:86814 CNTN2 6900 HP:0100543 Cognitive impairment OMIM:248450 FREM1 158326 HP:0000007 Autosomal recessive inheritance OMIM:248450 FREM1 158326 HP:0000632 Lacrimation abnormality OMIM:248450 FREM1 158326 HP:0002025 Anal stenosis OMIM:248450 FREM1 158326 HP:0001595 Abnormality of the hair OMIM:248450 FREM1 158326 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:248450 FREM1 158326 HP:0001545 Anteriorly placed anus OMIM:248450 FREM1 158326 HP:0008050 Abnormality of the palpebral fissures OMIM:248450 FREM1 158326 HP:0000316 Hypertelorism OMIM:248450 FREM1 158326 HP:0000568 Microphthalmos OMIM:248450 FREM1 158326 HP:0004397 Ectopic anus OMIM:248450 FREM1 158326 HP:0001539 Omphalocele OMIM:248450 FREM1 158326 HP:0000625 Cleft eyelid OMIM:248450 FREM1 158326 HP:0000579 Nasolacrimal duct obstruction OMIM:248450 FREM1 158326 HP:0004122 Midline defect of the nose OMIM:248450 FREM1 158326 HP:0000528 Anophthalmia OMIM:209500 HR 55806 HP:0007482 Generalized papillary lesions OMIM:209500 HR 55806 HP:0000007 Autosomal recessive inheritance OMIM:209500 HR 55806 HP:0001006 Hypotrichosis OMIM:611783 EPAS1 2034 HP:0001899 Increased hematocrit OMIM:611783 EPAS1 2034 HP:0001900 Increased hemoglobin OMIM:611783 EPAS1 2034 HP:0000006 Autosomal dominant inheritance OMIM:612462 GNAS 2778 HP:0010743 Short metatarsal OMIM:612462 GNAS 2778 HP:0001250 Seizures OMIM:612462 GNAS 2778 HP:0006297 Hypoplasia of dental enamel OMIM:612462 GNAS 2778 HP:0004322 Short stature OMIM:612462 GNAS 2778 HP:0005280 Depressed nasal bridge OMIM:612462 GNAS 2778 HP:0000293 Full cheeks OMIM:612462 GNAS 2778 HP:0001249 Intellectual disability OMIM:612462 GNAS 2778 HP:0003472 Hypocalcemic tetany OMIM:612462 GNAS 2778 HP:0000852 Pseudohypoparathyroidism OMIM:612462 GNAS 2778 HP:0003165 Elevated circulating parathyroid hormone (PTH) level OMIM:612462 GNAS 2778 HP:0000684 Delayed eruption of teeth OMIM:612462 GNAS 2778 HP:0002905 Hyperphosphatemia OMIM:612462 GNAS 2778 HP:0000821 Hypothyroidism OMIM:612462 GNAS 2778 HP:0000939 Osteoporosis OMIM:612462 GNAS 2778 HP:0003456 Low urinary cyclic AMP response to PTH administration OMIM:612462 GNAS 2778 HP:0000639 Nystagmus OMIM:612462 GNAS 2778 HP:0001156 Brachydactyly syndrome OMIM:612462 GNAS 2778 HP:0000135 Hypogonadism OMIM:612462 GNAS 2778 HP:0001513 Obesity OMIM:612462 GNAS 2778 HP:0100543 Cognitive impairment OMIM:612462 GNAS 2778 HP:0000006 Autosomal dominant inheritance OMIM:612462 GNAS 2778 HP:0002135 Basal ganglia calcification OMIM:612462 GNAS 2778 HP:0010049 Short metacarpal OMIM:612462 GNAS 2778 HP:0000518 Cataract OMIM:612462 GNAS 2778 HP:0000470 Short neck OMIM:612462 GNAS 2778 HP:0000311 Round face OMIM:612462 GNAS 2778 HP:0006960 Choroid plexus calcification OMIM:616026 HNF4A 3172 HP:0003109 Hyperphosphaturia OMIM:616026 HNF4A 3172 HP:0001943 Hypoglycemia OMIM:616026 HNF4A 3172 HP:0002240 Hepatomegaly OMIM:616026 HNF4A 3172 HP:0001520 Large for gestational age OMIM:616026 HNF4A 3172 HP:0000819 Diabetes mellitus OMIM:616026 HNF4A 3172 HP:0003537 Hypouricemia OMIM:616026 HNF4A 3172 HP:0003076 Glycosuria OMIM:616026 HNF4A 3172 HP:0000121 Nephrocalcinosis OMIM:616026 HNF4A 3172 HP:0004322 Short stature OMIM:616026 HNF4A 3172 HP:0002748 Rickets OMIM:616026 HNF4A 3172 HP:0003355 Aminoaciduria OMIM:135750 LMBR1 64327 HP:0001161 Hand polydactyly OMIM:135750 LMBR1 64327 HP:0000238 Hydrocephalus OMIM:135750 LMBR1 64327 HP:0001769 Broad foot OMIM:135750 LMBR1 64327 HP:0100524 Limb duplication OMIM:135750 LMBR1 64327 HP:0000316 Hypertelorism OMIM:135750 LMBR1 64327 HP:0000271 Abnormality of the face OMIM:135750 LMBR1 64327 HP:0008368 Tarsal synostosis OMIM:135750 LMBR1 64327 HP:0010503 Fibular duplication OMIM:135750 LMBR1 64327 HP:0001163 Abnormality of the metacarpal bones OMIM:135750 LMBR1 64327 HP:0009556 Absent tibia OMIM:135750 LMBR1 64327 HP:0001770 Toe syndactyly OMIM:135750 LMBR1 64327 HP:0001177 Preaxial hand polydactyly OMIM:135750 LMBR1 64327 HP:0002992 Abnormality of the tibia OMIM:135750 LMBR1 64327 HP:0001199 Triphalangeal thumb OMIM:135750 LMBR1 64327 HP:0001376 Limitation of joint mobility OMIM:135750 LMBR1 64327 HP:0006101 Finger syndactyly OMIM:135750 LMBR1 64327 HP:0003019 Abnormality of the wrist OMIM:135750 LMBR1 64327 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:135750 LMBR1 64327 HP:0000430 Underdeveloped nasal alae OMIM:135750 LMBR1 64327 HP:0001252 Muscular hypotonia OMIM:135750 LMBR1 64327 HP:0006443 Patellar aplasia OMIM:135750 LMBR1 64327 HP:0100543 Cognitive impairment OMIM:135750 LMBR1 64327 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:135750 LMBR1 64327 HP:0000028 Cryptorchidism OMIM:135750 LMBR1 64327 HP:0001841 Preaxial foot polydactyly OMIM:135750 LMBR1 64327 HP:0001883 Talipes OMIM:135750 LMBR1 64327 HP:0001773 Short foot OMIM:135750 LMBR1 64327 HP:0002714 Downturned corners of mouth OMIM:135750 LMBR1 64327 HP:0000006 Autosomal dominant inheritance OMIM:135750 LMBR1 64327 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:135750 LMBR1 64327 HP:0001159 Syndactyly OMIM:135750 LMBR1 64327 HP:0003974 Absent radius OMIM:204300 CLN6 54982 HP:0001250 Seizures OMIM:204300 CLN6 54982 HP:0002071 Abnormality of extrapyramidal motor function OMIM:204300 CLN6 54982 HP:0003657 Granular osmiophilic deposits (GROD) in cells OMIM:204300 CLN6 54982 HP:0001251 Ataxia OMIM:204300 CLN6 54982 HP:0000007 Autosomal recessive inheritance OMIM:204300 CLN6 54982 HP:0002367 Visual hallucinations OMIM:204300 CLN6 54982 HP:0003226 Rectilinear intracellular accumulation of autofluorescent lipopigment storage material OMIM:204300 CLN6 54982 HP:0002059 Cerebral atrophy OMIM:204300 CLN6 54982 HP:0000726 Dementia OMIM:204300 CLN6 54982 HP:0003205 Curvilinear intracellular accumulation of autofluorescent lipopigment storage material OMIM:204300 CLN6 54982 HP:0003581 Adult onset OMIM:204300 CLN6 54982 HP:0003208 Fingerprint intracellular accumulation of autofluorescent lipopigment storage material OMIM:204300 CLN6 54982 HP:0000716 Depression OMIM:204300 CLN6 54982 HP:0002352 Leukoencephalopathy OMIM:204300 CLN6 54982 HP:0001336 Myoclonus OMIM:204300 CLN6 54982 HP:0008765 Auditory hallucinations OMIM:204300 CLN6 54982 HP:0002074 Increased neuronal autofluorescent lipopigment OMIM:607078 MATN3 4148 HP:0001216 Delayed ossification of carpal bones OMIM:607078 MATN3 4148 HP:0002656 Epiphyseal dysplasia OMIM:607078 MATN3 4148 HP:0003025 Metaphyseal irregularity OMIM:607078 MATN3 4148 HP:0001376 Limitation of joint mobility OMIM:607078 MATN3 4148 HP:0002983 Micromelia OMIM:607078 MATN3 4148 HP:0002857 Genu valgum OMIM:607078 MATN3 4148 HP:0002970 Genu varum OMIM:607078 MATN3 4148 HP:0100864 Short femoral neck OMIM:607078 MATN3 4148 HP:0001288 Gait disturbance OMIM:607078 MATN3 4148 HP:0003088 Premature osteoarthritis OMIM:607078 MATN3 4148 HP:0010582 Irregular epiphyses OMIM:607078 MATN3 4148 HP:0003365 Arthralgia of the hip OMIM:607078 MATN3 4148 HP:0010585 Small epiphyses OMIM:607078 MATN3 4148 HP:0008103 Delayed tarsal ossification OMIM:607078 MATN3 4148 HP:0006429 Broad femoral neck OMIM:607078 MATN3 4148 HP:0002829 Arthralgia OMIM:607078 MATN3 4148 HP:0002654 Multiple epiphyseal dysplasia OMIM:607078 MATN3 4148 HP:0000006 Autosomal dominant inheritance OMIM:607078 MATN3 4148 HP:0002812 Coxa vara OMIM:607078 MATN3 4148 HP:0004322 Short stature OMIM:607078 MATN3 4148 HP:0003090 Hypoplasia of the capital femoral epiphysis OMIM:152200 LPA 4018 HP:0002621 Atherosclerosis OMIM:152200 LPA 4018 HP:0001939 Abnormality of metabolism/homeostasis OMIM:152200 LPA 4018 HP:0000006 Autosomal dominant inheritance OMIM:615235 LAMA4 3910 HP:0000006 Autosomal dominant inheritance OMIM:615235 LAMA4 3910 HP:0001644 Dilated cardiomyopathy OMIM:300352 SLC6A8 6535 HP:0010669 Cheekbone underdevelopment OMIM:300352 SLC6A8 6535 HP:0002167 Neurological speech impairment OMIM:300352 SLC6A8 6535 HP:0005214 Intestinal obstruction OMIM:300352 SLC6A8 6535 HP:0000298 Mask-like facies OMIM:300352 SLC6A8 6535 HP:0000735 Impaired social interactions OMIM:300352 SLC6A8 6535 HP:0000717 Autism OMIM:300352 SLC6A8 6535 HP:0001250 Seizures OMIM:300352 SLC6A8 6535 HP:0000252 Microcephaly OMIM:300352 SLC6A8 6535 HP:0100543 Cognitive impairment OMIM:300352 SLC6A8 6535 HP:0000508 Ptosis OMIM:300352 SLC6A8 6535 HP:0002013 Vomiting OMIM:300352 SLC6A8 6535 HP:0008583 Underfolded superior helices OMIM:300352 SLC6A8 6535 HP:0000272 Malar flattening OMIM:300352 SLC6A8 6535 HP:0001382 Joint hypermobility OMIM:300352 SLC6A8 6535 HP:0011800 Midface retrusion OMIM:300352 SLC6A8 6535 HP:0002058 Myopathic facies OMIM:300352 SLC6A8 6535 HP:0000733 Stereotypic behavior OMIM:300352 SLC6A8 6535 HP:0001939 Abnormality of metabolism/homeostasis OMIM:300352 SLC6A8 6535 HP:0000577 Exotropia OMIM:300352 SLC6A8 6535 HP:0007057 Poor hand-eye coordination OMIM:300352 SLC6A8 6535 HP:0000718 Aggressive behavior OMIM:300352 SLC6A8 6535 HP:0001270 Motor delay OMIM:300352 SLC6A8 6535 HP:0002251 Aganglionic megacolon OMIM:300352 SLC6A8 6535 HP:0002595 Ileus OMIM:300352 SLC6A8 6535 HP:0000303 Mandibular prognathia OMIM:300352 SLC6A8 6535 HP:0001319 Neonatal hypotonia OMIM:300352 SLC6A8 6535 HP:0001288 Gait disturbance OMIM:300352 SLC6A8 6535 HP:0008872 Feeding difficulties in infancy OMIM:300352 SLC6A8 6535 HP:0007018 Attention deficit hyperactivity disorder OMIM:300352 SLC6A8 6535 HP:0001263 Global developmental delay OMIM:300352 SLC6A8 6535 HP:0012448 Delayed myelination OMIM:300352 SLC6A8 6535 HP:0002019 Constipation OMIM:300352 SLC6A8 6535 HP:0004322 Short stature OMIM:300352 SLC6A8 6535 HP:0001257 Spasticity OMIM:300352 SLC6A8 6535 HP:0001249 Intellectual disability OMIM:300352 SLC6A8 6535 HP:0000540 Hypermetropia OMIM:300352 SLC6A8 6535 HP:0100022 Abnormality of movement OMIM:300352 SLC6A8 6535 HP:0001252 Muscular hypotonia OMIM:300352 SLC6A8 6535 HP:0000276 Long face OMIM:300352 SLC6A8 6535 HP:0000098 Tall stature OMIM:300352 SLC6A8 6535 HP:0004325 Decreased body weight OMIM:300352 SLC6A8 6535 HP:0000275 Narrow face OMIM:300352 SLC6A8 6535 HP:0001508 Failure to thrive OMIM:300352 SLC6A8 6535 HP:0002311 Incoordination OMIM:300352 SLC6A8 6535 HP:0003593 Infantile onset OMIM:300352 SLC6A8 6535 HP:0000973 Cutis laxa OMIM:300352 SLC6A8 6535 HP:0002079 Hypoplasia of the corpus callosum OMIM:300352 SLC6A8 6535 HP:0000337 Broad forehead OMIM:300352 SLC6A8 6535 HP:0000194 Open mouth OMIM:300352 SLC6A8 6535 HP:0001332 Dystonia OMIM:300352 SLC6A8 6535 HP:0001419 X-linked recessive inheritance OMIM:300352 SLC6A8 6535 HP:0001761 Pes cavus OMIM:300352 SLC6A8 6535 HP:0000750 Delayed speech and language development OMIM:300352 SLC6A8 6535 HP:0001276 Hypertonia OMIM:613843 TULP1 7287 HP:0000639 Nystagmus OMIM:613843 TULP1 7287 HP:0000505 Visual impairment OMIM:613843 TULP1 7287 HP:0000540 Hypermetropia OMIM:613843 TULP1 7287 HP:0000510 Retinitis pigmentosa OMIM:613843 TULP1 7287 HP:0000543 Optic disc pallor OMIM:613843 TULP1 7287 HP:0000007 Autosomal recessive inheritance OMIM:613843 TULP1 7287 HP:0000662 Night blindness OMIM:613843 TULP1 7287 HP:0000488 Retinopathy OMIM:613843 TULP1 7287 HP:0000545 Myopia OMIM:612703 STIL 6491 HP:0000252 Microcephaly OMIM:612703 STIL 6491 HP:0001249 Intellectual disability OMIM:612703 STIL 6491 HP:0000007 Autosomal recessive inheritance OMIM:208150 DOK7 285489 HP:0001331 Absent septum pellucidum OMIM:208150 DOK7 285489 HP:0001989 Fetal akinesia sequence OMIM:208150 DOK7 285489 HP:0000007 Autosomal recessive inheritance OMIM:208150 DOK7 285489 HP:0001511 Intrauterine growth retardation OMIM:208150 DOK7 285489 HP:0000238 Hydrocephalus OMIM:208150 DOK7 285489 HP:0001196 Short umbilical cord OMIM:208150 DOK7 285489 HP:0001321 Cerebellar hypoplasia OMIM:208150 DOK7 285489 HP:0100490 Camptodactyly of finger OMIM:208150 DOK7 285489 HP:0002804 Arthrogryposis multiplex congenita OMIM:208150 DOK7 285489 HP:0001518 Small for gestational age OMIM:208150 DOK7 285489 HP:0001193 Ulnar deviation of the hand or of fingers of the hand OMIM:208150 DOK7 285489 HP:0012745 Short palpebral fissure OMIM:208150 DOK7 285489 HP:0002089 Pulmonary hypoplasia OMIM:208150 DOK7 285489 HP:0000581 Blepharophimosis OMIM:208150 DOK7 285489 HP:0002389 Cavum septum pellucidum OMIM:208150 DOK7 285489 HP:0000437 Depressed nasal tip OMIM:208150 DOK7 285489 HP:0001438 Abnormality of the abdomen OMIM:208150 DOK7 285489 HP:0001762 Talipes equinovarus OMIM:208150 DOK7 285489 HP:0000506 Telecanthus OMIM:208150 DOK7 285489 HP:0000347 Micrognathia OMIM:208150 DOK7 285489 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:208150 DOK7 285489 HP:0000218 High palate OMIM:208150 DOK7 285489 HP:0003700 Generalized amyotrophy OMIM:208150 DOK7 285489 HP:0000316 Hypertelorism OMIM:208150 DOK7 285489 HP:0000358 Posteriorly rotated ears OMIM:208150 DOK7 285489 HP:0000470 Short neck OMIM:208150 DOK7 285489 HP:0000160 Narrow mouth OMIM:208150 DOK7 285489 HP:0000508 Ptosis OMIM:208150 DOK7 285489 HP:0001838 Rocker bottom foot OMIM:208150 DOK7 285489 HP:0001561 Polyhydramnios OMIM:208150 DOK7 285489 HP:0000343 Long philtrum OMIM:208150 DOK7 285489 HP:0001622 Premature birth OMIM:208150 DOK7 285489 HP:0000028 Cryptorchidism OMIM:208150 DOK7 285489 HP:0003826 Stillbirth OMIM:208150 DOK7 285489 HP:0003100 Slender long bone OMIM:208150 DOK7 285489 HP:0000883 Thin ribs OMIM:208150 DOK7 285489 HP:0000520 Proptosis OMIM:208150 DOK7 285489 HP:0006266 Small placenta OMIM:208150 DOK7 285489 HP:0000175 Cleft palate OMIM:208150 DOK7 285489 HP:0005257 Thoracic hypoplasia OMIM:208150 DOK7 285489 HP:0003070 Elbow ankylosis OMIM:208150 RAPSN 5913 HP:0001331 Absent septum pellucidum OMIM:208150 RAPSN 5913 HP:0001989 Fetal akinesia sequence OMIM:208150 RAPSN 5913 HP:0000007 Autosomal recessive inheritance OMIM:208150 RAPSN 5913 HP:0001511 Intrauterine growth retardation OMIM:208150 RAPSN 5913 HP:0000238 Hydrocephalus OMIM:208150 RAPSN 5913 HP:0001196 Short umbilical cord OMIM:208150 RAPSN 5913 HP:0001321 Cerebellar hypoplasia OMIM:208150 RAPSN 5913 HP:0100490 Camptodactyly of finger OMIM:208150 RAPSN 5913 HP:0002804 Arthrogryposis multiplex congenita OMIM:208150 RAPSN 5913 HP:0001518 Small for gestational age OMIM:208150 RAPSN 5913 HP:0001193 Ulnar deviation of the hand or of fingers of the hand OMIM:208150 RAPSN 5913 HP:0012745 Short palpebral fissure OMIM:208150 RAPSN 5913 HP:0002089 Pulmonary hypoplasia OMIM:208150 RAPSN 5913 HP:0000581 Blepharophimosis OMIM:208150 RAPSN 5913 HP:0002389 Cavum septum pellucidum OMIM:208150 RAPSN 5913 HP:0000437 Depressed nasal tip OMIM:208150 RAPSN 5913 HP:0001438 Abnormality of the abdomen OMIM:208150 RAPSN 5913 HP:0001762 Talipes equinovarus OMIM:208150 RAPSN 5913 HP:0000506 Telecanthus OMIM:208150 RAPSN 5913 HP:0000347 Micrognathia OMIM:208150 RAPSN 5913 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:208150 RAPSN 5913 HP:0000218 High palate OMIM:208150 RAPSN 5913 HP:0003700 Generalized amyotrophy OMIM:208150 RAPSN 5913 HP:0000316 Hypertelorism OMIM:208150 RAPSN 5913 HP:0000358 Posteriorly rotated ears OMIM:208150 RAPSN 5913 HP:0000470 Short neck OMIM:208150 RAPSN 5913 HP:0000160 Narrow mouth OMIM:208150 RAPSN 5913 HP:0000508 Ptosis OMIM:208150 RAPSN 5913 HP:0001838 Rocker bottom foot OMIM:208150 RAPSN 5913 HP:0001561 Polyhydramnios OMIM:208150 RAPSN 5913 HP:0000343 Long philtrum OMIM:208150 RAPSN 5913 HP:0001622 Premature birth OMIM:208150 RAPSN 5913 HP:0000028 Cryptorchidism OMIM:208150 RAPSN 5913 HP:0003826 Stillbirth OMIM:208150 RAPSN 5913 HP:0003100 Slender long bone OMIM:208150 RAPSN 5913 HP:0000883 Thin ribs OMIM:208150 RAPSN 5913 HP:0000520 Proptosis OMIM:208150 RAPSN 5913 HP:0006266 Small placenta OMIM:208150 RAPSN 5913 HP:0000175 Cleft palate OMIM:208150 RAPSN 5913 HP:0005257 Thoracic hypoplasia OMIM:208150 RAPSN 5913 HP:0003070 Elbow ankylosis OMIM:611953 CST3 1471 HP:0010982 Polygenic inheritance OMIM:611953 CST3 1471 HP:0007868 Age-related macular degeneration OMIM:609637 ZIC2 7546 HP:0000006 Autosomal dominant inheritance OMIM:609637 ZIC2 7546 HP:0001999 Abnormal facial shape OMIM:609637 ZIC2 7546 HP:0001360 Holoprosencephaly OMIM:609637 ZIC2 7546 HP:0001249 Intellectual disability OMIM:609637 ZIC2 7546 HP:0000238 Hydrocephalus OMIM:609637 ZIC2 7546 HP:0000243 Trigonocephaly OMIM:609637 ZIC2 7546 HP:0000316 Hypertelorism OMIM:609637 ZIC2 7546 HP:0000601 Hypotelorism OMIM:609637 ZIC2 7546 HP:0000341 Narrow forehead OMIM:609637 ZIC2 7546 HP:0005280 Depressed nasal bridge OMIM:609637 ZIC2 7546 HP:0000664 Synophrys OMIM:609637 ZIC2 7546 HP:0000252 Microcephaly OMIM:609637 ZIC2 7546 HP:0001263 Global developmental delay OMIM:609637 ZIC2 7546 HP:0000202 Oral cleft OMIM:609637 ZIC2 7546 HP:0000582 Upslanted palpebral fissure OMIM:609637 ZIC2 7546 HP:0000400 Macrotia OMIM:609637 ZIC2 7546 HP:0000218 High palate OMIM:601626 ARHGEF12 23365 HP:0000006 Autosomal dominant inheritance OMIM:601626 ARHGEF12 23365 HP:0004808 Acute myeloid leukemia OMIM:601626 NSD1 64324 HP:0000006 Autosomal dominant inheritance OMIM:601626 NSD1 64324 HP:0004808 Acute myeloid leukemia OMIM:601626 PICALM 8301 HP:0000006 Autosomal dominant inheritance OMIM:601626 PICALM 8301 HP:0004808 Acute myeloid leukemia OMIM:601626 RUNX1 861 HP:0000006 Autosomal dominant inheritance OMIM:601626 RUNX1 861 HP:0004808 Acute myeloid leukemia OMIM:601626 GMPS 8833 HP:0000006 Autosomal dominant inheritance OMIM:601626 GMPS 8833 HP:0004808 Acute myeloid leukemia OMIM:601626 MLF1 4291 HP:0000006 Autosomal dominant inheritance OMIM:601626 MLF1 4291 HP:0004808 Acute myeloid leukemia OMIM:601626 JAK2 3717 HP:0000006 Autosomal dominant inheritance OMIM:601626 JAK2 3717 HP:0004808 Acute myeloid leukemia OMIM:601626 CBFB 865 HP:0000006 Autosomal dominant inheritance OMIM:601626 CBFB 865 HP:0004808 Acute myeloid leukemia OMIM:601626 FLT3 2322 HP:0000006 Autosomal dominant inheritance OMIM:601626 FLT3 2322 HP:0004808 Acute myeloid leukemia OMIM:601626 NPM1 4869 HP:0000006 Autosomal dominant inheritance OMIM:601626 NPM1 4869 HP:0004808 Acute myeloid leukemia OMIM:601626 CEBPA 1050 HP:0000006 Autosomal dominant inheritance OMIM:601626 CEBPA 1050 HP:0004808 Acute myeloid leukemia OMIM:601626 KIT 3815 HP:0000006 Autosomal dominant inheritance OMIM:601626 KIT 3815 HP:0004808 Acute myeloid leukemia OMIM:601626 MLLT10 8028 HP:0000006 Autosomal dominant inheritance OMIM:601626 MLLT10 8028 HP:0004808 Acute myeloid leukemia OMIM:601626 SH3GL1 6455 HP:0000006 Autosomal dominant inheritance OMIM:601626 SH3GL1 6455 HP:0004808 Acute myeloid leukemia OMIM:601626 ETV6 2120 HP:0000006 Autosomal dominant inheritance OMIM:601626 ETV6 2120 HP:0004808 Acute myeloid leukemia OMIM:601626 LPP 4026 HP:0000006 Autosomal dominant inheritance OMIM:601626 LPP 4026 HP:0004808 Acute myeloid leukemia OMIM:601626 WHSC1L1 54904 HP:0000006 Autosomal dominant inheritance OMIM:601626 WHSC1L1 54904 HP:0004808 Acute myeloid leukemia OMIM:601626 NUP214 8021 HP:0000006 Autosomal dominant inheritance OMIM:601626 NUP214 8021 HP:0004808 Acute myeloid leukemia OMIM:311510 RAB39B 116442 HP:0100660 Dyskinesia OMIM:311510 RAB39B 116442 HP:0002167 Neurological speech impairment OMIM:311510 RAB39B 116442 HP:0002362 Shuffling gait OMIM:311510 RAB39B 116442 HP:0001276 Hypertonia OMIM:311510 RAB39B 116442 HP:0002396 Cogwheel rigidity OMIM:311510 RAB39B 116442 HP:0100543 Cognitive impairment OMIM:311510 RAB39B 116442 HP:0001417 X-linked inheritance OMIM:311510 RAB39B 116442 HP:0002007 Frontal bossing OMIM:311510 RAB39B 116442 HP:0000256 Macrocephaly OMIM:311510 RAB39B 116442 HP:0001249 Intellectual disability OMIM:311510 RAB39B 116442 HP:0000726 Dementia OMIM:311510 RAB39B 116442 HP:0001250 Seizures OMIM:311510 RAB39B 116442 HP:0000486 Strabismus OMIM:311510 RAB39B 116442 HP:0001355 Megalencephaly OMIM:311510 RAB39B 116442 HP:0001260 Dysarthria OMIM:311510 RAB39B 116442 HP:0002465 Poor speech OMIM:311510 RAB39B 116442 HP:0002067 Bradykinesia OMIM:311510 RAB39B 116442 HP:0002322 Resting tremor OMIM:311510 RAB39B 116442 HP:0001263 Global developmental delay OMIM:311510 RAB39B 116442 HP:0001300 Parkinsonism OMIM:610006 ACADSB 36 HP:0001263 Global developmental delay OMIM:610006 ACADSB 36 HP:0001250 Seizures OMIM:610006 ACADSB 36 HP:0005949 Apneic episodes in infancy OMIM:610006 ACADSB 36 HP:0002045 Hypothermia OMIM:610006 ACADSB 36 HP:0001270 Motor delay OMIM:610006 ACADSB 36 HP:0003593 Infantile onset OMIM:610006 ACADSB 36 HP:0000007 Autosomal recessive inheritance OMIM:610006 ACADSB 36 HP:0000577 Exotropia OMIM:610006 ACADSB 36 HP:0001943 Hypoglycemia OMIM:610006 ACADSB 36 HP:0003700 Generalized amyotrophy OMIM:610006 ACADSB 36 HP:0001252 Muscular hypotonia OMIM:610006 ACADSB 36 HP:0001254 Lethargy OMIM:610006 ACADSB 36 HP:0000252 Microcephaly OMIM:153600 MYD88 4615 HP:0001909 Leukemia OMIM:153600 MYD88 4615 HP:0000006 Autosomal dominant inheritance OMIM:153600 MYD88 4615 HP:0002665 Lymphoma OMIM:153600 MYD88 4615 HP:0003347 Impaired lymphocyte transformation with phytohemagglutinin OMIM:153600 MYD88 4615 HP:0001271 Polyneuropathy OMIM:153600 MYD88 4615 HP:0005508 Waldenstrom macroglobulinemia OMIM:153600 MYD88 4615 HP:0003459 Polyclonal elevation of IgM OMIM:165500 OPA1 4976 HP:0000006 Autosomal dominant inheritance OMIM:165500 OPA1 4976 HP:0000576 Centrocecal scotoma OMIM:165500 OPA1 4976 HP:0000603 Central scotoma OMIM:165500 OPA1 4976 HP:0000590 Progressive external ophthalmoplegia OMIM:165500 OPA1 4976 HP:0000505 Visual impairment OMIM:165500 OPA1 4976 HP:0000666 Horizontal nystagmus OMIM:165500 OPA1 4976 HP:0000650 Reduced amplitude of pattern visual evoked potentials OMIM:165500 OPA1 4976 HP:0003587 Insidious onset OMIM:165500 OPA1 4976 HP:0003829 Incomplete penetrance OMIM:165500 OPA1 4976 HP:0001251 Ataxia OMIM:165500 OPA1 4976 HP:0000552 Tritanomaly OMIM:165500 OPA1 4976 HP:0003701 Proximal muscle weakness OMIM:165500 OPA1 4976 HP:0000642 Red-green dyschromatopsia OMIM:165500 OPA1 4976 HP:0000486 Strabismus OMIM:165500 OPA1 4976 HP:0000648 Optic atrophy OMIM:300434 SHROOM4 57477 HP:0004322 Short stature OMIM:300434 SHROOM4 57477 HP:0002187 Intellectual disability, profound OMIM:300434 SHROOM4 57477 HP:0002827 Hip dislocation OMIM:166700 LEMD3 23592 HP:0100542 Abnormal localization of kidney OMIM:166700 LEMD3 23592 HP:0100335 Non-midline cleft lip OMIM:166700 LEMD3 23592 HP:0005930 Abnormality of epiphysis morphology OMIM:166700 LEMD3 23592 HP:0000486 Strabismus OMIM:166700 LEMD3 23592 HP:0000246 Sinusitis OMIM:166700 LEMD3 23592 HP:0001387 Joint stiffness OMIM:166700 LEMD3 23592 HP:0100242 Sarcoma OMIM:166700 LEMD3 23592 HP:0001371 Flexion contracture OMIM:166700 LEMD3 23592 HP:0000944 Abnormality of the metaphyses OMIM:166700 LEMD3 23592 HP:0001608 Abnormality of the voice OMIM:166700 LEMD3 23592 HP:0001609 Hoarse voice OMIM:166700 LEMD3 23592 HP:0000365 Hearing impairment OMIM:166700 LEMD3 23592 HP:0003326 Myalgia OMIM:166700 LEMD3 23592 HP:0011001 Increased bone mineral density OMIM:166700 LEMD3 23592 HP:0100651 Type I diabetes mellitus OMIM:166700 LEMD3 23592 HP:0000252 Microcephaly OMIM:166700 LEMD3 23592 HP:0000006 Autosomal dominant inheritance OMIM:166700 LEMD3 23592 HP:0007513 Generalized hypopigmentation OMIM:166700 LEMD3 23592 HP:0000505 Visual impairment OMIM:166700 LEMD3 23592 HP:0001679 Abnormality of the aorta OMIM:166700 LEMD3 23592 HP:0002653 Bone pain OMIM:166700 LEMD3 23592 HP:0010739 Osteopoikilosis OMIM:166700 LEMD3 23592 HP:0002829 Arthralgia OMIM:166700 LEMD3 23592 HP:0001369 Arthritis OMIM:166700 LEMD3 23592 HP:0002757 Recurrent fractures OMIM:166700 LEMD3 23592 HP:0000940 Abnormal diaphysis morphology OMIM:166700 LEMD3 23592 HP:0000164 Abnormality of the teeth OMIM:166700 LEMD3 23592 HP:0100721 Mediastinal lymphadenopathy OMIM:166700 LEMD3 23592 HP:0000982 Palmoplantar keratoderma OMIM:166700 LEMD3 23592 HP:0002652 Skeletal dysplasia OMIM:166700 LEMD3 23592 HP:0100774 Hyperostosis OMIM:166700 LEMD3 23592 HP:0000987 Atypical scarring of skin OMIM:166700 LEMD3 23592 HP:0004322 Short stature OMIM:166700 LEMD3 23592 HP:0000995 Melanocytic nevus OMIM:166700 LEMD3 23592 HP:0003764 Nevus OMIM:300495 NLGN4X 57502 HP:0001249 Intellectual disability OMIM:300495 NLGN4X 57502 HP:0000717 Autism OMIM:300495 NLGN4X 57502 HP:0002353 EEG abnormality OMIM:300495 NLGN4X 57502 HP:0001417 X-linked inheritance OMIM:300495 NLGN4X 57502 HP:0000758 Impaired use of nonverbal behaviors OMIM:300495 NLGN4X 57502 HP:0003745 Sporadic OMIM:300495 NLGN4X 57502 HP:0000721 Lack of spontaneous play OMIM:300495 NLGN4X 57502 HP:0000723 Restrictive behavior OMIM:300495 NLGN4X 57502 HP:0000733 Stereotypic behavior OMIM:300495 NLGN4X 57502 HP:0011463 Childhood onset OMIM:300495 NLGN4X 57502 HP:0000732 Inflexible adherence to routines or rituals OMIM:300495 NLGN4X 57502 HP:0003144 Increased serum serotonin OMIM:300495 NLGN4X 57502 HP:0001250 Seizures OMIM:300495 NLGN4X 57502 HP:0002332 Lack of peer relationships OMIM:300495 NLGN4X 57502 HP:0000750 Delayed speech and language development OMIM:300495 NLGN4X 57502 HP:0001426 Multifactorial inheritance OMIM:615084 MGME1 92667 HP:0011675 Arrhythmia OMIM:615084 MGME1 92667 HP:0001611 Nasal speech OMIM:615084 MGME1 92667 HP:0001618 Dysphonia OMIM:615084 MGME1 92667 HP:0003676 Progressive disorder OMIM:615084 MGME1 92667 HP:0000252 Microcephaly OMIM:615084 MGME1 92667 HP:0002014 Diarrhea OMIM:615084 MGME1 92667 HP:0000590 Progressive external ophthalmoplegia OMIM:615084 MGME1 92667 HP:0003306 Spinal rigidity OMIM:615084 MGME1 92667 HP:0002719 Recurrent infections OMIM:615084 MGME1 92667 HP:0003388 Easy fatigability OMIM:615084 MGME1 92667 HP:0001265 Hyporeflexia OMIM:615084 MGME1 92667 HP:0003700 Generalized amyotrophy OMIM:615084 MGME1 92667 HP:0010628 Facial palsy OMIM:615084 MGME1 92667 HP:0000508 Ptosis OMIM:615084 MGME1 92667 HP:0002094 Dyspnea OMIM:615084 MGME1 92667 HP:0003236 Elevated serum creatine phosphokinase OMIM:615084 MGME1 92667 HP:0002808 Kyphosis OMIM:615084 MGME1 92667 HP:0001644 Dilated cardiomyopathy OMIM:615084 MGME1 92667 HP:0001321 Cerebellar hypoplasia OMIM:615084 MGME1 92667 HP:0001249 Intellectual disability OMIM:615084 MGME1 92667 HP:0008443 Spinal deformities OMIM:615084 MGME1 92667 HP:0000007 Autosomal recessive inheritance OMIM:615084 MGME1 92667 HP:0007126 Proximal amyotrophy OMIM:615084 MGME1 92667 HP:0003546 Exercise intolerance OMIM:615084 MGME1 92667 HP:0002018 Nausea ORPHANET:1775 NOP10 55505 HP:0100543 Cognitive impairment ORPHANET:1775 NOP10 55505 HP:0000819 Diabetes mellitus ORPHANET:1775 NOP10 55505 HP:0100670 Rough bone trabeculation ORPHANET:1775 NOP10 55505 HP:0005528 Bone marrow hypocellularity ORPHANET:1775 NOP10 55505 HP:0010624 Aplastic/hypoplastic toenail ORPHANET:1775 NOP10 55505 HP:0005599 Hypopigmentation of hair ORPHANET:1775 NOP10 55505 HP:0002575 Tracheoesophageal fistula ORPHANET:1775 NOP10 55505 HP:0001231 Abnormality of the fingernails ORPHANET:1775 NOP10 55505 HP:0001399 Hepatic failure ORPHANET:1775 NOP10 55505 HP:0002024 Malabsorption ORPHANET:1775 NOP10 55505 HP:0000982 Palmoplantar keratoderma ORPHANET:1775 NOP10 55505 HP:0000518 Cataract ORPHANET:1775 NOP10 55505 HP:0001928 Abnormality of coagulation ORPHANET:1775 NOP10 55505 HP:0002216 Premature graying of hair ORPHANET:1775 NOP10 55505 HP:0001596 Alopecia ORPHANET:1775 NOP10 55505 HP:0100585 Teleangiectasia of the skin ORPHANET:1775 NOP10 55505 HP:0001873 Thrombocytopenia ORPHANET:1775 NOP10 55505 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:1775 NOP10 55505 HP:0001034 Hypermelanotic macule ORPHANET:1775 NOP10 55505 HP:0004349 Reduced bone mineral density ORPHANET:1775 NOP10 55505 HP:0000035 Abnormality of the testis ORPHANET:1775 NOP10 55505 HP:0002894 Neoplasm of the pancreas ORPHANET:1775 NOP10 55505 HP:0000975 Hyperhidrosis ORPHANET:1775 NOP10 55505 HP:0000534 Abnormality of the eyebrow ORPHANET:1775 NOP10 55505 HP:0000600 Abnormality of the pharynx ORPHANET:1775 NOP10 55505 HP:0100533 Inflammatory abnormality of the eye ORPHANET:1775 NOP10 55505 HP:0002240 Hepatomegaly ORPHANET:1775 NOP10 55505 HP:0002650 Scoliosis ORPHANET:1775 NOP10 55505 HP:0008066 Abnormal blistering of the skin ORPHANET:1775 NOP10 55505 HP:0000008 Abnormality of female internal genitalia ORPHANET:1775 NOP10 55505 HP:0002757 Recurrent fractures ORPHANET:1775 NOP10 55505 HP:0001394 Cirrhosis ORPHANET:1775 NOP10 55505 HP:0000670 Carious teeth ORPHANET:1775 NOP10 55505 HP:0001874 Abnormality of neutrophils ORPHANET:1775 NOP10 55505 HP:0002665 Lymphoma ORPHANET:1775 NOP10 55505 HP:0001053 Hypopigmented skin patches ORPHANET:1775 NOP10 55505 HP:0001903 Anemia ORPHANET:1775 NOP10 55505 HP:0002205 Recurrent respiratory infections ORPHANET:1775 NOP10 55505 HP:0001744 Splenomegaly ORPHANET:1775 NOP10 55505 HP:0000365 Hearing impairment ORPHANET:1775 NOP10 55505 HP:0001798 Anonychia ORPHANET:1775 NOP10 55505 HP:0005374 Cellular immunodeficiency ORPHANET:1775 NOP10 55505 HP:0002514 Cerebral calcification ORPHANET:1775 NOP10 55505 HP:0100627 Displacement of the external urethral meatus ORPHANET:1775 NOP10 55505 HP:0004322 Short stature ORPHANET:1775 NOP10 55505 HP:0200042 Skin ulcer ORPHANET:1775 NOP10 55505 HP:0010885 Aseptic necrosis ORPHANET:1775 NOP10 55505 HP:0001511 Intrauterine growth retardation ORPHANET:1775 TINF2 26277 HP:0100543 Cognitive impairment ORPHANET:1775 TINF2 26277 HP:0000819 Diabetes mellitus ORPHANET:1775 TINF2 26277 HP:0100670 Rough bone trabeculation ORPHANET:1775 TINF2 26277 HP:0005528 Bone marrow hypocellularity ORPHANET:1775 TINF2 26277 HP:0010624 Aplastic/hypoplastic toenail ORPHANET:1775 TINF2 26277 HP:0005599 Hypopigmentation of hair ORPHANET:1775 TINF2 26277 HP:0002575 Tracheoesophageal fistula ORPHANET:1775 TINF2 26277 HP:0001231 Abnormality of the fingernails ORPHANET:1775 TINF2 26277 HP:0001399 Hepatic failure ORPHANET:1775 TINF2 26277 HP:0002024 Malabsorption ORPHANET:1775 TINF2 26277 HP:0000982 Palmoplantar keratoderma ORPHANET:1775 TINF2 26277 HP:0000518 Cataract ORPHANET:1775 TINF2 26277 HP:0001928 Abnormality of coagulation ORPHANET:1775 TINF2 26277 HP:0002216 Premature graying of hair ORPHANET:1775 TINF2 26277 HP:0001596 Alopecia ORPHANET:1775 TINF2 26277 HP:0100585 Teleangiectasia of the skin ORPHANET:1775 TINF2 26277 HP:0001873 Thrombocytopenia ORPHANET:1775 TINF2 26277 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:1775 TINF2 26277 HP:0001034 Hypermelanotic macule ORPHANET:1775 TINF2 26277 HP:0004349 Reduced bone mineral density ORPHANET:1775 TINF2 26277 HP:0000035 Abnormality of the testis ORPHANET:1775 TINF2 26277 HP:0002894 Neoplasm of the pancreas ORPHANET:1775 TINF2 26277 HP:0000975 Hyperhidrosis ORPHANET:1775 TINF2 26277 HP:0000534 Abnormality of the eyebrow ORPHANET:1775 TINF2 26277 HP:0000600 Abnormality of the pharynx ORPHANET:1775 TINF2 26277 HP:0100533 Inflammatory abnormality of the eye ORPHANET:1775 TINF2 26277 HP:0002240 Hepatomegaly ORPHANET:1775 TINF2 26277 HP:0002650 Scoliosis ORPHANET:1775 TINF2 26277 HP:0008066 Abnormal blistering of the skin ORPHANET:1775 TINF2 26277 HP:0000008 Abnormality of female internal genitalia ORPHANET:1775 TINF2 26277 HP:0002757 Recurrent fractures ORPHANET:1775 TINF2 26277 HP:0001394 Cirrhosis ORPHANET:1775 TINF2 26277 HP:0000670 Carious teeth ORPHANET:1775 TINF2 26277 HP:0001874 Abnormality of neutrophils ORPHANET:1775 TINF2 26277 HP:0002665 Lymphoma ORPHANET:1775 TINF2 26277 HP:0001053 Hypopigmented skin patches ORPHANET:1775 TINF2 26277 HP:0001903 Anemia ORPHANET:1775 TINF2 26277 HP:0002205 Recurrent respiratory infections ORPHANET:1775 TINF2 26277 HP:0001744 Splenomegaly ORPHANET:1775 TINF2 26277 HP:0000365 Hearing impairment ORPHANET:1775 TINF2 26277 HP:0001798 Anonychia ORPHANET:1775 TINF2 26277 HP:0005374 Cellular immunodeficiency ORPHANET:1775 TINF2 26277 HP:0002514 Cerebral calcification ORPHANET:1775 TINF2 26277 HP:0100627 Displacement of the external urethral meatus ORPHANET:1775 TINF2 26277 HP:0004322 Short stature ORPHANET:1775 TINF2 26277 HP:0200042 Skin ulcer ORPHANET:1775 TINF2 26277 HP:0010885 Aseptic necrosis ORPHANET:1775 TINF2 26277 HP:0001511 Intrauterine growth retardation ORPHANET:1775 TERC 7012 HP:0100543 Cognitive impairment ORPHANET:1775 TERC 7012 HP:0000819 Diabetes mellitus ORPHANET:1775 TERC 7012 HP:0100670 Rough bone trabeculation ORPHANET:1775 TERC 7012 HP:0005528 Bone marrow hypocellularity ORPHANET:1775 TERC 7012 HP:0010624 Aplastic/hypoplastic toenail ORPHANET:1775 TERC 7012 HP:0005599 Hypopigmentation of hair ORPHANET:1775 TERC 7012 HP:0002575 Tracheoesophageal fistula ORPHANET:1775 TERC 7012 HP:0001231 Abnormality of the fingernails ORPHANET:1775 TERC 7012 HP:0001399 Hepatic failure ORPHANET:1775 TERC 7012 HP:0002024 Malabsorption ORPHANET:1775 TERC 7012 HP:0000982 Palmoplantar keratoderma ORPHANET:1775 TERC 7012 HP:0000518 Cataract ORPHANET:1775 TERC 7012 HP:0001928 Abnormality of coagulation ORPHANET:1775 TERC 7012 HP:0002216 Premature graying of hair ORPHANET:1775 TERC 7012 HP:0001596 Alopecia ORPHANET:1775 TERC 7012 HP:0100585 Teleangiectasia of the skin ORPHANET:1775 TERC 7012 HP:0001873 Thrombocytopenia ORPHANET:1775 TERC 7012 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:1775 TERC 7012 HP:0001034 Hypermelanotic macule ORPHANET:1775 TERC 7012 HP:0004349 Reduced bone mineral density ORPHANET:1775 TERC 7012 HP:0000035 Abnormality of the testis ORPHANET:1775 TERC 7012 HP:0002894 Neoplasm of the pancreas ORPHANET:1775 TERC 7012 HP:0000975 Hyperhidrosis ORPHANET:1775 TERC 7012 HP:0000534 Abnormality of the eyebrow ORPHANET:1775 TERC 7012 HP:0000600 Abnormality of the pharynx ORPHANET:1775 TERC 7012 HP:0100533 Inflammatory abnormality of the eye ORPHANET:1775 TERC 7012 HP:0002240 Hepatomegaly ORPHANET:1775 TERC 7012 HP:0002650 Scoliosis ORPHANET:1775 TERC 7012 HP:0008066 Abnormal blistering of the skin ORPHANET:1775 TERC 7012 HP:0000008 Abnormality of female internal genitalia ORPHANET:1775 TERC 7012 HP:0002757 Recurrent fractures ORPHANET:1775 TERC 7012 HP:0001394 Cirrhosis ORPHANET:1775 TERC 7012 HP:0000670 Carious teeth ORPHANET:1775 TERC 7012 HP:0001874 Abnormality of neutrophils ORPHANET:1775 TERC 7012 HP:0002665 Lymphoma ORPHANET:1775 TERC 7012 HP:0001053 Hypopigmented skin patches ORPHANET:1775 TERC 7012 HP:0001903 Anemia ORPHANET:1775 TERC 7012 HP:0002205 Recurrent respiratory infections ORPHANET:1775 TERC 7012 HP:0001744 Splenomegaly ORPHANET:1775 TERC 7012 HP:0000365 Hearing impairment ORPHANET:1775 TERC 7012 HP:0001798 Anonychia ORPHANET:1775 TERC 7012 HP:0005374 Cellular immunodeficiency ORPHANET:1775 TERC 7012 HP:0002514 Cerebral calcification ORPHANET:1775 TERC 7012 HP:0100627 Displacement of the external urethral meatus ORPHANET:1775 TERC 7012 HP:0004322 Short stature ORPHANET:1775 TERC 7012 HP:0200042 Skin ulcer ORPHANET:1775 TERC 7012 HP:0010885 Aseptic necrosis ORPHANET:1775 TERC 7012 HP:0001511 Intrauterine growth retardation ORPHANET:1775 TERT 7015 HP:0100543 Cognitive impairment ORPHANET:1775 TERT 7015 HP:0000819 Diabetes mellitus ORPHANET:1775 TERT 7015 HP:0100670 Rough bone trabeculation ORPHANET:1775 TERT 7015 HP:0005528 Bone marrow hypocellularity ORPHANET:1775 TERT 7015 HP:0010624 Aplastic/hypoplastic toenail ORPHANET:1775 TERT 7015 HP:0005599 Hypopigmentation of hair ORPHANET:1775 TERT 7015 HP:0002575 Tracheoesophageal fistula ORPHANET:1775 TERT 7015 HP:0001231 Abnormality of the fingernails ORPHANET:1775 TERT 7015 HP:0001399 Hepatic failure ORPHANET:1775 TERT 7015 HP:0002024 Malabsorption ORPHANET:1775 TERT 7015 HP:0000982 Palmoplantar keratoderma ORPHANET:1775 TERT 7015 HP:0000518 Cataract ORPHANET:1775 TERT 7015 HP:0001928 Abnormality of coagulation ORPHANET:1775 TERT 7015 HP:0002216 Premature graying of hair ORPHANET:1775 TERT 7015 HP:0001596 Alopecia ORPHANET:1775 TERT 7015 HP:0100585 Teleangiectasia of the skin ORPHANET:1775 TERT 7015 HP:0001873 Thrombocytopenia ORPHANET:1775 TERT 7015 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:1775 TERT 7015 HP:0001034 Hypermelanotic macule ORPHANET:1775 TERT 7015 HP:0004349 Reduced bone mineral density ORPHANET:1775 TERT 7015 HP:0000035 Abnormality of the testis ORPHANET:1775 TERT 7015 HP:0002894 Neoplasm of the pancreas ORPHANET:1775 TERT 7015 HP:0000975 Hyperhidrosis ORPHANET:1775 TERT 7015 HP:0000534 Abnormality of the eyebrow ORPHANET:1775 TERT 7015 HP:0000600 Abnormality of the pharynx ORPHANET:1775 TERT 7015 HP:0100533 Inflammatory abnormality of the eye ORPHANET:1775 TERT 7015 HP:0002240 Hepatomegaly ORPHANET:1775 TERT 7015 HP:0002650 Scoliosis ORPHANET:1775 TERT 7015 HP:0008066 Abnormal blistering of the skin ORPHANET:1775 TERT 7015 HP:0000008 Abnormality of female internal genitalia ORPHANET:1775 TERT 7015 HP:0002757 Recurrent fractures ORPHANET:1775 TERT 7015 HP:0001394 Cirrhosis ORPHANET:1775 TERT 7015 HP:0000670 Carious teeth ORPHANET:1775 TERT 7015 HP:0001874 Abnormality of neutrophils ORPHANET:1775 TERT 7015 HP:0002665 Lymphoma ORPHANET:1775 TERT 7015 HP:0001053 Hypopigmented skin patches ORPHANET:1775 TERT 7015 HP:0001903 Anemia ORPHANET:1775 TERT 7015 HP:0002205 Recurrent respiratory infections ORPHANET:1775 TERT 7015 HP:0001744 Splenomegaly ORPHANET:1775 TERT 7015 HP:0000365 Hearing impairment ORPHANET:1775 TERT 7015 HP:0001798 Anonychia ORPHANET:1775 TERT 7015 HP:0005374 Cellular immunodeficiency ORPHANET:1775 TERT 7015 HP:0002514 Cerebral calcification ORPHANET:1775 TERT 7015 HP:0100627 Displacement of the external urethral meatus ORPHANET:1775 TERT 7015 HP:0004322 Short stature ORPHANET:1775 TERT 7015 HP:0200042 Skin ulcer ORPHANET:1775 TERT 7015 HP:0010885 Aseptic necrosis ORPHANET:1775 TERT 7015 HP:0001511 Intrauterine growth retardation ORPHANET:1775 WRAP53 55135 HP:0100543 Cognitive impairment ORPHANET:1775 WRAP53 55135 HP:0000819 Diabetes mellitus ORPHANET:1775 WRAP53 55135 HP:0100670 Rough bone trabeculation ORPHANET:1775 WRAP53 55135 HP:0005528 Bone marrow hypocellularity ORPHANET:1775 WRAP53 55135 HP:0010624 Aplastic/hypoplastic toenail ORPHANET:1775 WRAP53 55135 HP:0005599 Hypopigmentation of hair ORPHANET:1775 WRAP53 55135 HP:0002575 Tracheoesophageal fistula ORPHANET:1775 WRAP53 55135 HP:0001231 Abnormality of the fingernails ORPHANET:1775 WRAP53 55135 HP:0001399 Hepatic failure ORPHANET:1775 WRAP53 55135 HP:0002024 Malabsorption ORPHANET:1775 WRAP53 55135 HP:0000982 Palmoplantar keratoderma ORPHANET:1775 WRAP53 55135 HP:0000518 Cataract ORPHANET:1775 WRAP53 55135 HP:0001928 Abnormality of coagulation ORPHANET:1775 WRAP53 55135 HP:0002216 Premature graying of hair ORPHANET:1775 WRAP53 55135 HP:0001596 Alopecia ORPHANET:1775 WRAP53 55135 HP:0100585 Teleangiectasia of the skin ORPHANET:1775 WRAP53 55135 HP:0001873 Thrombocytopenia ORPHANET:1775 WRAP53 55135 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:1775 WRAP53 55135 HP:0001034 Hypermelanotic macule ORPHANET:1775 WRAP53 55135 HP:0004349 Reduced bone mineral density ORPHANET:1775 WRAP53 55135 HP:0000035 Abnormality of the testis ORPHANET:1775 WRAP53 55135 HP:0002894 Neoplasm of the pancreas ORPHANET:1775 WRAP53 55135 HP:0000975 Hyperhidrosis ORPHANET:1775 WRAP53 55135 HP:0000534 Abnormality of the eyebrow ORPHANET:1775 WRAP53 55135 HP:0000600 Abnormality of the pharynx ORPHANET:1775 WRAP53 55135 HP:0100533 Inflammatory abnormality of the eye ORPHANET:1775 WRAP53 55135 HP:0002240 Hepatomegaly ORPHANET:1775 WRAP53 55135 HP:0002650 Scoliosis ORPHANET:1775 WRAP53 55135 HP:0008066 Abnormal blistering of the skin ORPHANET:1775 WRAP53 55135 HP:0000008 Abnormality of female internal genitalia ORPHANET:1775 WRAP53 55135 HP:0002757 Recurrent fractures ORPHANET:1775 WRAP53 55135 HP:0001394 Cirrhosis ORPHANET:1775 WRAP53 55135 HP:0000670 Carious teeth ORPHANET:1775 WRAP53 55135 HP:0001874 Abnormality of neutrophils ORPHANET:1775 WRAP53 55135 HP:0002665 Lymphoma ORPHANET:1775 WRAP53 55135 HP:0001053 Hypopigmented skin patches ORPHANET:1775 WRAP53 55135 HP:0001903 Anemia ORPHANET:1775 WRAP53 55135 HP:0002205 Recurrent respiratory infections ORPHANET:1775 WRAP53 55135 HP:0001744 Splenomegaly ORPHANET:1775 WRAP53 55135 HP:0000365 Hearing impairment ORPHANET:1775 WRAP53 55135 HP:0001798 Anonychia ORPHANET:1775 WRAP53 55135 HP:0005374 Cellular immunodeficiency ORPHANET:1775 WRAP53 55135 HP:0002514 Cerebral calcification ORPHANET:1775 WRAP53 55135 HP:0100627 Displacement of the external urethral meatus ORPHANET:1775 WRAP53 55135 HP:0004322 Short stature ORPHANET:1775 WRAP53 55135 HP:0200042 Skin ulcer ORPHANET:1775 WRAP53 55135 HP:0010885 Aseptic necrosis ORPHANET:1775 WRAP53 55135 HP:0001511 Intrauterine growth retardation ORPHANET:1775 DKC1 1736 HP:0100543 Cognitive impairment ORPHANET:1775 DKC1 1736 HP:0000819 Diabetes mellitus ORPHANET:1775 DKC1 1736 HP:0100670 Rough bone trabeculation ORPHANET:1775 DKC1 1736 HP:0005528 Bone marrow hypocellularity ORPHANET:1775 DKC1 1736 HP:0010624 Aplastic/hypoplastic toenail ORPHANET:1775 DKC1 1736 HP:0005599 Hypopigmentation of hair ORPHANET:1775 DKC1 1736 HP:0002575 Tracheoesophageal fistula ORPHANET:1775 DKC1 1736 HP:0001231 Abnormality of the fingernails ORPHANET:1775 DKC1 1736 HP:0001399 Hepatic failure ORPHANET:1775 DKC1 1736 HP:0002024 Malabsorption ORPHANET:1775 DKC1 1736 HP:0000982 Palmoplantar keratoderma ORPHANET:1775 DKC1 1736 HP:0000518 Cataract ORPHANET:1775 DKC1 1736 HP:0001928 Abnormality of coagulation ORPHANET:1775 DKC1 1736 HP:0002216 Premature graying of hair ORPHANET:1775 DKC1 1736 HP:0001596 Alopecia ORPHANET:1775 DKC1 1736 HP:0100585 Teleangiectasia of the skin ORPHANET:1775 DKC1 1736 HP:0001873 Thrombocytopenia ORPHANET:1775 DKC1 1736 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:1775 DKC1 1736 HP:0001034 Hypermelanotic macule ORPHANET:1775 DKC1 1736 HP:0004349 Reduced bone mineral density ORPHANET:1775 DKC1 1736 HP:0000035 Abnormality of the testis ORPHANET:1775 DKC1 1736 HP:0002894 Neoplasm of the pancreas ORPHANET:1775 DKC1 1736 HP:0000975 Hyperhidrosis ORPHANET:1775 DKC1 1736 HP:0000534 Abnormality of the eyebrow ORPHANET:1775 DKC1 1736 HP:0000600 Abnormality of the pharynx ORPHANET:1775 DKC1 1736 HP:0100533 Inflammatory abnormality of the eye ORPHANET:1775 DKC1 1736 HP:0002240 Hepatomegaly ORPHANET:1775 DKC1 1736 HP:0002650 Scoliosis ORPHANET:1775 DKC1 1736 HP:0008066 Abnormal blistering of the skin ORPHANET:1775 DKC1 1736 HP:0000008 Abnormality of female internal genitalia ORPHANET:1775 DKC1 1736 HP:0002757 Recurrent fractures ORPHANET:1775 DKC1 1736 HP:0001394 Cirrhosis ORPHANET:1775 DKC1 1736 HP:0000670 Carious teeth ORPHANET:1775 DKC1 1736 HP:0001874 Abnormality of neutrophils ORPHANET:1775 DKC1 1736 HP:0002665 Lymphoma ORPHANET:1775 DKC1 1736 HP:0001053 Hypopigmented skin patches ORPHANET:1775 DKC1 1736 HP:0001903 Anemia ORPHANET:1775 DKC1 1736 HP:0002205 Recurrent respiratory infections ORPHANET:1775 DKC1 1736 HP:0001744 Splenomegaly ORPHANET:1775 DKC1 1736 HP:0000365 Hearing impairment ORPHANET:1775 DKC1 1736 HP:0001798 Anonychia ORPHANET:1775 DKC1 1736 HP:0005374 Cellular immunodeficiency ORPHANET:1775 DKC1 1736 HP:0002514 Cerebral calcification ORPHANET:1775 DKC1 1736 HP:0100627 Displacement of the external urethral meatus ORPHANET:1775 DKC1 1736 HP:0004322 Short stature ORPHANET:1775 DKC1 1736 HP:0200042 Skin ulcer ORPHANET:1775 DKC1 1736 HP:0010885 Aseptic necrosis ORPHANET:1775 DKC1 1736 HP:0001511 Intrauterine growth retardation ORPHANET:1775 PARN 5073 HP:0100543 Cognitive impairment ORPHANET:1775 PARN 5073 HP:0000819 Diabetes mellitus ORPHANET:1775 PARN 5073 HP:0100670 Rough bone trabeculation ORPHANET:1775 PARN 5073 HP:0005528 Bone marrow hypocellularity ORPHANET:1775 PARN 5073 HP:0010624 Aplastic/hypoplastic toenail ORPHANET:1775 PARN 5073 HP:0005599 Hypopigmentation of hair ORPHANET:1775 PARN 5073 HP:0002575 Tracheoesophageal fistula ORPHANET:1775 PARN 5073 HP:0001231 Abnormality of the fingernails ORPHANET:1775 PARN 5073 HP:0001399 Hepatic failure ORPHANET:1775 PARN 5073 HP:0002024 Malabsorption ORPHANET:1775 PARN 5073 HP:0000982 Palmoplantar keratoderma ORPHANET:1775 PARN 5073 HP:0000518 Cataract ORPHANET:1775 PARN 5073 HP:0001928 Abnormality of coagulation ORPHANET:1775 PARN 5073 HP:0002216 Premature graying of hair ORPHANET:1775 PARN 5073 HP:0001596 Alopecia ORPHANET:1775 PARN 5073 HP:0100585 Teleangiectasia of the skin ORPHANET:1775 PARN 5073 HP:0001873 Thrombocytopenia ORPHANET:1775 PARN 5073 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:1775 PARN 5073 HP:0001034 Hypermelanotic macule ORPHANET:1775 PARN 5073 HP:0004349 Reduced bone mineral density ORPHANET:1775 PARN 5073 HP:0000035 Abnormality of the testis ORPHANET:1775 PARN 5073 HP:0002894 Neoplasm of the pancreas ORPHANET:1775 PARN 5073 HP:0000975 Hyperhidrosis ORPHANET:1775 PARN 5073 HP:0000534 Abnormality of the eyebrow ORPHANET:1775 PARN 5073 HP:0000600 Abnormality of the pharynx ORPHANET:1775 PARN 5073 HP:0100533 Inflammatory abnormality of the eye ORPHANET:1775 PARN 5073 HP:0002240 Hepatomegaly ORPHANET:1775 PARN 5073 HP:0002650 Scoliosis ORPHANET:1775 PARN 5073 HP:0008066 Abnormal blistering of the skin ORPHANET:1775 PARN 5073 HP:0000008 Abnormality of female internal genitalia ORPHANET:1775 PARN 5073 HP:0002757 Recurrent fractures ORPHANET:1775 PARN 5073 HP:0001394 Cirrhosis ORPHANET:1775 PARN 5073 HP:0000670 Carious teeth ORPHANET:1775 PARN 5073 HP:0001874 Abnormality of neutrophils ORPHANET:1775 PARN 5073 HP:0002665 Lymphoma ORPHANET:1775 PARN 5073 HP:0001053 Hypopigmented skin patches ORPHANET:1775 PARN 5073 HP:0001903 Anemia ORPHANET:1775 PARN 5073 HP:0002205 Recurrent respiratory infections ORPHANET:1775 PARN 5073 HP:0001744 Splenomegaly ORPHANET:1775 PARN 5073 HP:0000365 Hearing impairment ORPHANET:1775 PARN 5073 HP:0001798 Anonychia ORPHANET:1775 PARN 5073 HP:0005374 Cellular immunodeficiency ORPHANET:1775 PARN 5073 HP:0002514 Cerebral calcification ORPHANET:1775 PARN 5073 HP:0100627 Displacement of the external urethral meatus ORPHANET:1775 PARN 5073 HP:0004322 Short stature ORPHANET:1775 PARN 5073 HP:0200042 Skin ulcer ORPHANET:1775 PARN 5073 HP:0010885 Aseptic necrosis ORPHANET:1775 PARN 5073 HP:0001511 Intrauterine growth retardation ORPHANET:1775 NHP2 55651 HP:0100543 Cognitive impairment ORPHANET:1775 NHP2 55651 HP:0000819 Diabetes mellitus ORPHANET:1775 NHP2 55651 HP:0100670 Rough bone trabeculation ORPHANET:1775 NHP2 55651 HP:0005528 Bone marrow hypocellularity ORPHANET:1775 NHP2 55651 HP:0010624 Aplastic/hypoplastic toenail ORPHANET:1775 NHP2 55651 HP:0005599 Hypopigmentation of hair ORPHANET:1775 NHP2 55651 HP:0002575 Tracheoesophageal fistula ORPHANET:1775 NHP2 55651 HP:0001231 Abnormality of the fingernails ORPHANET:1775 NHP2 55651 HP:0001399 Hepatic failure ORPHANET:1775 NHP2 55651 HP:0002024 Malabsorption ORPHANET:1775 NHP2 55651 HP:0000982 Palmoplantar keratoderma ORPHANET:1775 NHP2 55651 HP:0000518 Cataract ORPHANET:1775 NHP2 55651 HP:0001928 Abnormality of coagulation ORPHANET:1775 NHP2 55651 HP:0002216 Premature graying of hair ORPHANET:1775 NHP2 55651 HP:0001596 Alopecia ORPHANET:1775 NHP2 55651 HP:0100585 Teleangiectasia of the skin ORPHANET:1775 NHP2 55651 HP:0001873 Thrombocytopenia ORPHANET:1775 NHP2 55651 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:1775 NHP2 55651 HP:0001034 Hypermelanotic macule ORPHANET:1775 NHP2 55651 HP:0004349 Reduced bone mineral density ORPHANET:1775 NHP2 55651 HP:0000035 Abnormality of the testis ORPHANET:1775 NHP2 55651 HP:0002894 Neoplasm of the pancreas ORPHANET:1775 NHP2 55651 HP:0000975 Hyperhidrosis ORPHANET:1775 NHP2 55651 HP:0000534 Abnormality of the eyebrow ORPHANET:1775 NHP2 55651 HP:0000600 Abnormality of the pharynx ORPHANET:1775 NHP2 55651 HP:0100533 Inflammatory abnormality of the eye ORPHANET:1775 NHP2 55651 HP:0002240 Hepatomegaly ORPHANET:1775 NHP2 55651 HP:0002650 Scoliosis ORPHANET:1775 NHP2 55651 HP:0008066 Abnormal blistering of the skin ORPHANET:1775 NHP2 55651 HP:0000008 Abnormality of female internal genitalia ORPHANET:1775 NHP2 55651 HP:0002757 Recurrent fractures ORPHANET:1775 NHP2 55651 HP:0001394 Cirrhosis ORPHANET:1775 NHP2 55651 HP:0000670 Carious teeth ORPHANET:1775 NHP2 55651 HP:0001874 Abnormality of neutrophils ORPHANET:1775 NHP2 55651 HP:0002665 Lymphoma ORPHANET:1775 NHP2 55651 HP:0001053 Hypopigmented skin patches ORPHANET:1775 NHP2 55651 HP:0001903 Anemia ORPHANET:1775 NHP2 55651 HP:0002205 Recurrent respiratory infections ORPHANET:1775 NHP2 55651 HP:0001744 Splenomegaly ORPHANET:1775 NHP2 55651 HP:0000365 Hearing impairment ORPHANET:1775 NHP2 55651 HP:0001798 Anonychia ORPHANET:1775 NHP2 55651 HP:0005374 Cellular immunodeficiency ORPHANET:1775 NHP2 55651 HP:0002514 Cerebral calcification ORPHANET:1775 NHP2 55651 HP:0100627 Displacement of the external urethral meatus ORPHANET:1775 NHP2 55651 HP:0004322 Short stature ORPHANET:1775 NHP2 55651 HP:0200042 Skin ulcer ORPHANET:1775 NHP2 55651 HP:0010885 Aseptic necrosis ORPHANET:1775 NHP2 55651 HP:0001511 Intrauterine growth retardation ORPHANET:1775 CTC1 80169 HP:0100543 Cognitive impairment ORPHANET:1775 CTC1 80169 HP:0000819 Diabetes mellitus ORPHANET:1775 CTC1 80169 HP:0100670 Rough bone trabeculation ORPHANET:1775 CTC1 80169 HP:0005528 Bone marrow hypocellularity ORPHANET:1775 CTC1 80169 HP:0010624 Aplastic/hypoplastic toenail ORPHANET:1775 CTC1 80169 HP:0005599 Hypopigmentation of hair ORPHANET:1775 CTC1 80169 HP:0002575 Tracheoesophageal fistula ORPHANET:1775 CTC1 80169 HP:0001231 Abnormality of the fingernails ORPHANET:1775 CTC1 80169 HP:0001399 Hepatic failure ORPHANET:1775 CTC1 80169 HP:0002024 Malabsorption ORPHANET:1775 CTC1 80169 HP:0000982 Palmoplantar keratoderma ORPHANET:1775 CTC1 80169 HP:0000518 Cataract ORPHANET:1775 CTC1 80169 HP:0001928 Abnormality of coagulation ORPHANET:1775 CTC1 80169 HP:0002216 Premature graying of hair ORPHANET:1775 CTC1 80169 HP:0001596 Alopecia ORPHANET:1775 CTC1 80169 HP:0100585 Teleangiectasia of the skin ORPHANET:1775 CTC1 80169 HP:0001873 Thrombocytopenia ORPHANET:1775 CTC1 80169 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:1775 CTC1 80169 HP:0001034 Hypermelanotic macule ORPHANET:1775 CTC1 80169 HP:0004349 Reduced bone mineral density ORPHANET:1775 CTC1 80169 HP:0000035 Abnormality of the testis ORPHANET:1775 CTC1 80169 HP:0002894 Neoplasm of the pancreas ORPHANET:1775 CTC1 80169 HP:0000975 Hyperhidrosis ORPHANET:1775 CTC1 80169 HP:0000534 Abnormality of the eyebrow ORPHANET:1775 CTC1 80169 HP:0000600 Abnormality of the pharynx ORPHANET:1775 CTC1 80169 HP:0100533 Inflammatory abnormality of the eye ORPHANET:1775 CTC1 80169 HP:0002240 Hepatomegaly ORPHANET:1775 CTC1 80169 HP:0002650 Scoliosis ORPHANET:1775 CTC1 80169 HP:0008066 Abnormal blistering of the skin ORPHANET:1775 CTC1 80169 HP:0000008 Abnormality of female internal genitalia ORPHANET:1775 CTC1 80169 HP:0002757 Recurrent fractures ORPHANET:1775 CTC1 80169 HP:0001394 Cirrhosis ORPHANET:1775 CTC1 80169 HP:0000670 Carious teeth ORPHANET:1775 CTC1 80169 HP:0001874 Abnormality of neutrophils ORPHANET:1775 CTC1 80169 HP:0002665 Lymphoma ORPHANET:1775 CTC1 80169 HP:0001053 Hypopigmented skin patches ORPHANET:1775 CTC1 80169 HP:0001903 Anemia ORPHANET:1775 CTC1 80169 HP:0002205 Recurrent respiratory infections ORPHANET:1775 CTC1 80169 HP:0001744 Splenomegaly ORPHANET:1775 CTC1 80169 HP:0000365 Hearing impairment ORPHANET:1775 CTC1 80169 HP:0001798 Anonychia ORPHANET:1775 CTC1 80169 HP:0005374 Cellular immunodeficiency ORPHANET:1775 CTC1 80169 HP:0002514 Cerebral calcification ORPHANET:1775 CTC1 80169 HP:0100627 Displacement of the external urethral meatus ORPHANET:1775 CTC1 80169 HP:0004322 Short stature ORPHANET:1775 CTC1 80169 HP:0200042 Skin ulcer ORPHANET:1775 CTC1 80169 HP:0010885 Aseptic necrosis ORPHANET:1775 CTC1 80169 HP:0001511 Intrauterine growth retardation ORPHANET:1775 RTEL1 51750 HP:0100543 Cognitive impairment ORPHANET:1775 RTEL1 51750 HP:0000819 Diabetes mellitus ORPHANET:1775 RTEL1 51750 HP:0100670 Rough bone trabeculation ORPHANET:1775 RTEL1 51750 HP:0005528 Bone marrow hypocellularity ORPHANET:1775 RTEL1 51750 HP:0010624 Aplastic/hypoplastic toenail ORPHANET:1775 RTEL1 51750 HP:0005599 Hypopigmentation of hair ORPHANET:1775 RTEL1 51750 HP:0002575 Tracheoesophageal fistula ORPHANET:1775 RTEL1 51750 HP:0001231 Abnormality of the fingernails ORPHANET:1775 RTEL1 51750 HP:0001399 Hepatic failure ORPHANET:1775 RTEL1 51750 HP:0002024 Malabsorption ORPHANET:1775 RTEL1 51750 HP:0000982 Palmoplantar keratoderma ORPHANET:1775 RTEL1 51750 HP:0000518 Cataract ORPHANET:1775 RTEL1 51750 HP:0001928 Abnormality of coagulation ORPHANET:1775 RTEL1 51750 HP:0002216 Premature graying of hair ORPHANET:1775 RTEL1 51750 HP:0001596 Alopecia ORPHANET:1775 RTEL1 51750 HP:0100585 Teleangiectasia of the skin ORPHANET:1775 RTEL1 51750 HP:0001873 Thrombocytopenia ORPHANET:1775 RTEL1 51750 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:1775 RTEL1 51750 HP:0001034 Hypermelanotic macule ORPHANET:1775 RTEL1 51750 HP:0004349 Reduced bone mineral density ORPHANET:1775 RTEL1 51750 HP:0000035 Abnormality of the testis ORPHANET:1775 RTEL1 51750 HP:0002894 Neoplasm of the pancreas ORPHANET:1775 RTEL1 51750 HP:0000975 Hyperhidrosis ORPHANET:1775 RTEL1 51750 HP:0000534 Abnormality of the eyebrow ORPHANET:1775 RTEL1 51750 HP:0000600 Abnormality of the pharynx ORPHANET:1775 RTEL1 51750 HP:0100533 Inflammatory abnormality of the eye ORPHANET:1775 RTEL1 51750 HP:0002240 Hepatomegaly ORPHANET:1775 RTEL1 51750 HP:0002650 Scoliosis ORPHANET:1775 RTEL1 51750 HP:0008066 Abnormal blistering of the skin ORPHANET:1775 RTEL1 51750 HP:0000008 Abnormality of female internal genitalia ORPHANET:1775 RTEL1 51750 HP:0002757 Recurrent fractures ORPHANET:1775 RTEL1 51750 HP:0001394 Cirrhosis ORPHANET:1775 RTEL1 51750 HP:0000670 Carious teeth ORPHANET:1775 RTEL1 51750 HP:0001874 Abnormality of neutrophils ORPHANET:1775 RTEL1 51750 HP:0002665 Lymphoma ORPHANET:1775 RTEL1 51750 HP:0001053 Hypopigmented skin patches ORPHANET:1775 RTEL1 51750 HP:0001903 Anemia ORPHANET:1775 RTEL1 51750 HP:0002205 Recurrent respiratory infections ORPHANET:1775 RTEL1 51750 HP:0001744 Splenomegaly ORPHANET:1775 RTEL1 51750 HP:0000365 Hearing impairment ORPHANET:1775 RTEL1 51750 HP:0001798 Anonychia ORPHANET:1775 RTEL1 51750 HP:0005374 Cellular immunodeficiency ORPHANET:1775 RTEL1 51750 HP:0002514 Cerebral calcification ORPHANET:1775 RTEL1 51750 HP:0100627 Displacement of the external urethral meatus ORPHANET:1775 RTEL1 51750 HP:0004322 Short stature ORPHANET:1775 RTEL1 51750 HP:0200042 Skin ulcer ORPHANET:1775 RTEL1 51750 HP:0010885 Aseptic necrosis ORPHANET:1775 RTEL1 51750 HP:0001511 Intrauterine growth retardation ORPHANET:1775 USB1 79650 HP:0100543 Cognitive impairment ORPHANET:1775 USB1 79650 HP:0000819 Diabetes mellitus ORPHANET:1775 USB1 79650 HP:0100670 Rough bone trabeculation ORPHANET:1775 USB1 79650 HP:0005528 Bone marrow hypocellularity ORPHANET:1775 USB1 79650 HP:0010624 Aplastic/hypoplastic toenail ORPHANET:1775 USB1 79650 HP:0005599 Hypopigmentation of hair ORPHANET:1775 USB1 79650 HP:0002575 Tracheoesophageal fistula ORPHANET:1775 USB1 79650 HP:0001231 Abnormality of the fingernails ORPHANET:1775 USB1 79650 HP:0001399 Hepatic failure ORPHANET:1775 USB1 79650 HP:0002024 Malabsorption ORPHANET:1775 USB1 79650 HP:0000982 Palmoplantar keratoderma ORPHANET:1775 USB1 79650 HP:0000518 Cataract ORPHANET:1775 USB1 79650 HP:0001928 Abnormality of coagulation ORPHANET:1775 USB1 79650 HP:0002216 Premature graying of hair ORPHANET:1775 USB1 79650 HP:0001596 Alopecia ORPHANET:1775 USB1 79650 HP:0100585 Teleangiectasia of the skin ORPHANET:1775 USB1 79650 HP:0001873 Thrombocytopenia ORPHANET:1775 USB1 79650 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:1775 USB1 79650 HP:0001034 Hypermelanotic macule ORPHANET:1775 USB1 79650 HP:0004349 Reduced bone mineral density ORPHANET:1775 USB1 79650 HP:0000035 Abnormality of the testis ORPHANET:1775 USB1 79650 HP:0002894 Neoplasm of the pancreas ORPHANET:1775 USB1 79650 HP:0000975 Hyperhidrosis ORPHANET:1775 USB1 79650 HP:0000534 Abnormality of the eyebrow ORPHANET:1775 USB1 79650 HP:0000600 Abnormality of the pharynx ORPHANET:1775 USB1 79650 HP:0100533 Inflammatory abnormality of the eye ORPHANET:1775 USB1 79650 HP:0002240 Hepatomegaly ORPHANET:1775 USB1 79650 HP:0002650 Scoliosis ORPHANET:1775 USB1 79650 HP:0008066 Abnormal blistering of the skin ORPHANET:1775 USB1 79650 HP:0000008 Abnormality of female internal genitalia ORPHANET:1775 USB1 79650 HP:0002757 Recurrent fractures ORPHANET:1775 USB1 79650 HP:0001394 Cirrhosis ORPHANET:1775 USB1 79650 HP:0000670 Carious teeth ORPHANET:1775 USB1 79650 HP:0001874 Abnormality of neutrophils ORPHANET:1775 USB1 79650 HP:0002665 Lymphoma ORPHANET:1775 USB1 79650 HP:0001053 Hypopigmented skin patches ORPHANET:1775 USB1 79650 HP:0001903 Anemia ORPHANET:1775 USB1 79650 HP:0002205 Recurrent respiratory infections ORPHANET:1775 USB1 79650 HP:0001744 Splenomegaly ORPHANET:1775 USB1 79650 HP:0000365 Hearing impairment ORPHANET:1775 USB1 79650 HP:0001798 Anonychia ORPHANET:1775 USB1 79650 HP:0005374 Cellular immunodeficiency ORPHANET:1775 USB1 79650 HP:0002514 Cerebral calcification ORPHANET:1775 USB1 79650 HP:0100627 Displacement of the external urethral meatus ORPHANET:1775 USB1 79650 HP:0004322 Short stature ORPHANET:1775 USB1 79650 HP:0200042 Skin ulcer ORPHANET:1775 USB1 79650 HP:0010885 Aseptic necrosis ORPHANET:1775 USB1 79650 HP:0001511 Intrauterine growth retardation OMIM:615071 LARP7 51574 HP:0000252 Microcephaly OMIM:615071 LARP7 51574 HP:0000322 Short philtrum OMIM:615071 LARP7 51574 HP:0000445 Wide nose OMIM:615071 LARP7 51574 HP:0000272 Malar flattening OMIM:615071 LARP7 51574 HP:0000154 Wide mouth OMIM:615071 LARP7 51574 HP:0000007 Autosomal recessive inheritance OMIM:615071 LARP7 51574 HP:0010864 Intellectual disability, severe OMIM:615071 LARP7 51574 HP:0002650 Scoliosis OMIM:615071 LARP7 51574 HP:0004325 Decreased body weight OMIM:615071 LARP7 51574 HP:0003510 Severe short stature ORPHANET:137608 PTEN 5728 HP:0100764 Lymphangioma ORPHANET:137608 PTEN 5728 HP:0100615 Ovarian neoplasm ORPHANET:137608 PTEN 5728 HP:0001635 Congestive heart failure ORPHANET:137608 PTEN 5728 HP:0100013 Neoplasm of the breast ORPHANET:137608 PTEN 5728 HP:0002757 Recurrent fractures ORPHANET:137608 PTEN 5728 HP:0001883 Talipes ORPHANET:137608 PTEN 5728 HP:0004349 Reduced bone mineral density ORPHANET:137608 PTEN 5728 HP:0004374 Hemiplegia/hemiparesis ORPHANET:137608 PTEN 5728 HP:0100559 Lower limb asymmetry ORPHANET:137608 PTEN 5728 HP:0005293 Venous insufficiency ORPHANET:137608 PTEN 5728 HP:0100026 Arteriovenous malformation ORPHANET:137608 PTEN 5728 HP:0100031 Neoplasm of the thyroid gland ORPHANET:137608 PTEN 5728 HP:0100761 Visceral angiomatosis ORPHANET:137608 PTEN 5728 HP:0000256 Macrocephaly OMIM:612649 RSPH4A 345895 HP:0003546 Exercise intolerance OMIM:612649 RSPH4A 345895 HP:0002110 Bronchiectasis OMIM:612649 RSPH4A 345895 HP:0011108 Recurrent sinusitis OMIM:612649 RSPH4A 345895 HP:0004322 Short stature OMIM:612649 RSPH4A 345895 HP:0012262 Abnormal ciliary motility OMIM:612649 RSPH4A 345895 HP:0002257 Chronic rhinitis OMIM:612649 RSPH4A 345895 HP:0012260 Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649 RSPH4A 345895 HP:0000007 Autosomal recessive inheritance OMIM:612649 RSPH4A 345895 HP:0012265 Ciliary dyskinesia OMIM:609152 TSHR 7253 HP:0001270 Motor delay OMIM:609152 TSHR 7253 HP:0003745 Sporadic OMIM:609152 TSHR 7253 HP:0000853 Goiter OMIM:609152 TSHR 7253 HP:0001622 Premature birth OMIM:609152 TSHR 7253 HP:0000836 Hyperthyroidism OMIM:609152 TSHR 7253 HP:0001939 Abnormality of metabolism/homeostasis OMIM:609152 TSHR 7253 HP:0000750 Delayed speech and language development OMIM:609152 TSHR 7253 HP:0000006 Autosomal dominant inheritance OMIM:609152 TSHR 7253 HP:0000752 Hyperactivity OMIM:609152 TSHR 7253 HP:0005616 Accelerated skeletal maturation OMIM:609152 TSHR 7253 HP:0001649 Tachycardia OMIM:609152 TSHR 7253 HP:0008249 Thyroid hyperplasia OMIM:609152 TSHR 7253 HP:0001518 Small for gestational age OMIM:609152 TSHR 7253 HP:0001249 Intellectual disability OMIM:122880 PAX3 5077 HP:0000494 Downslanted palpebral fissures OMIM:122880 PAX3 5077 HP:0003196 Short nose OMIM:122880 PAX3 5077 HP:0001193 Ulnar deviation of the hand or of fingers of the hand OMIM:122880 PAX3 5077 HP:0003019 Abnormality of the wrist OMIM:122880 PAX3 5077 HP:0100490 Camptodactyly of finger OMIM:122880 PAX3 5077 HP:0000006 Autosomal dominant inheritance OMIM:122880 PAX3 5077 HP:0000327 Hypoplasia of the maxilla OMIM:122880 PAX3 5077 HP:0000272 Malar flattening OMIM:122880 PAX3 5077 HP:0000316 Hypertelorism OMIM:122880 PAX3 5077 HP:0000407 Sensorineural hearing impairment OMIM:122880 PAX3 5077 HP:0000160 Narrow mouth OMIM:122880 PAX3 5077 HP:0000275 Narrow face OMIM:122880 PAX3 5077 HP:0009924 Aplasia/Hypoplasia involving the nose OMIM:122880 PAX3 5077 HP:0012368 Flat face OMIM:122880 PAX3 5077 HP:0005280 Depressed nasal bridge OMIM:122880 PAX3 5077 HP:0000581 Blepharophimosis OMIM:122880 PAX3 5077 HP:0009465 Ulnar deviation of finger OMIM:122880 PAX3 5077 HP:0000632 Lacrimation abnormality OMIM:122880 PAX3 5077 HP:0000457 Depressed nasal ridge OMIM:274900 DUOXA2 405753 HP:0001939 Abnormality of metabolism/homeostasis OMIM:274900 DUOXA2 405753 HP:0000007 Autosomal recessive inheritance OMIM:274900 DUOXA2 405753 HP:0000821 Hypothyroidism OMIM:274900 DUOXA2 405753 HP:0001510 Growth delay OMIM:274900 DUOXA2 405753 HP:0001249 Intellectual disability OMIM:274900 DUOXA2 405753 HP:0000853 Goiter OMIM:188000 ANKRD26 22852 HP:0000978 Bruising susceptibility OMIM:188000 ANKRD26 22852 HP:0000006 Autosomal dominant inheritance OMIM:188000 ANKRD26 22852 HP:0001873 Thrombocytopenia OMIM:188000 MASTL 84930 HP:0000978 Bruising susceptibility OMIM:188000 MASTL 84930 HP:0000006 Autosomal dominant inheritance OMIM:188000 MASTL 84930 HP:0001873 Thrombocytopenia OMIM:607250 TDP1 55775 HP:0003693 Distal amyotrophy OMIM:607250 TDP1 55775 HP:0001761 Pes cavus OMIM:607250 TDP1 55775 HP:0000007 Autosomal recessive inheritance OMIM:607250 TDP1 55775 HP:0003376 Steppage gait OMIM:607250 TDP1 55775 HP:0001251 Ataxia OMIM:607250 TDP1 55775 HP:0003477 Peripheral axonal neuropathy OMIM:174800 GNAS 2778 HP:0000826 Precocious puberty OMIM:174800 GNAS 2778 HP:0000843 Hyperparathyroidism OMIM:174800 GNAS 2778 HP:0000256 Macrocephaly OMIM:174800 GNAS 2778 HP:0000836 Hyperthyroidism OMIM:174800 GNAS 2778 HP:0002652 Skeletal dysplasia OMIM:174800 GNAS 2778 HP:0002756 Pathologic fracture OMIM:174800 GNAS 2778 HP:0001928 Abnormality of coagulation OMIM:174800 GNAS 2778 HP:0000053 Macroorchidism OMIM:174800 GNAS 2778 HP:0001578 Hypercortisolism OMIM:174800 GNAS 2778 HP:0000845 Growth hormone excess OMIM:174800 GNAS 2778 HP:0000870 Prolactin excess OMIM:174800 GNAS 2778 HP:0100031 Neoplasm of the thyroid gland OMIM:174800 GNAS 2778 HP:0002808 Kyphosis OMIM:174800 GNAS 2778 HP:0005605 Large cafe-au-lait macules with irregular margins OMIM:174800 GNAS 2778 HP:0000147 Polycystic ovaries OMIM:174800 GNAS 2778 HP:0002148 Hypophosphatemia OMIM:174800 GNAS 2778 HP:0000098 Tall stature OMIM:174800 GNAS 2778 HP:0003812 Phenotypic variability OMIM:174800 GNAS 2778 HP:0100242 Sarcoma OMIM:174800 GNAS 2778 HP:0000618 Blindness OMIM:174800 GNAS 2778 HP:0002757 Recurrent fractures OMIM:174800 GNAS 2778 HP:0002653 Bone pain OMIM:174800 GNAS 2778 HP:0000648 Optic atrophy OMIM:174800 GNAS 2778 HP:0000303 Mandibular prognathia OMIM:174800 GNAS 2778 HP:0010735 Polyostotic fibrous dysplasia OMIM:174800 GNAS 2778 HP:0007440 Generalized hyperpigmentation OMIM:174800 GNAS 2778 HP:0004349 Reduced bone mineral density OMIM:174800 GNAS 2778 HP:0000682 Abnormality of dental enamel OMIM:174800 GNAS 2778 HP:0200008 Intestinal polyposis OMIM:174800 GNAS 2778 HP:0004493 Craniofacial hyperostosis OMIM:174800 GNAS 2778 HP:0000670 Carious teeth OMIM:174800 GNAS 2778 HP:0000365 Hearing impairment OMIM:174800 GNAS 2778 HP:0000364 Hearing abnormality OMIM:174800 GNAS 2778 HP:0000689 Dental malocclusion OMIM:174800 GNAS 2778 HP:0000324 Facial asymmetry OMIM:174800 GNAS 2778 HP:0100013 Neoplasm of the breast OMIM:174800 GNAS 2778 HP:0010788 Testicular neoplasm OMIM:174800 GNAS 2778 HP:0000957 Cafe-au-lait spot OMIM:174800 GNAS 2778 HP:0000853 Goiter OMIM:174800 GNAS 2778 HP:0000174 Abnormality of the palate OMIM:174800 GNAS 2778 HP:0002910 Elevated hepatic transaminases OMIM:174800 GNAS 2778 HP:0002893 Pituitary adenoma OMIM:174800 GNAS 2778 HP:0000040 Long penis OMIM:174800 GNAS 2778 HP:0001442 Somatic mosaicism OMIM:611093 TUSC3 7991 HP:0001249 Intellectual disability OMIM:611093 TUSC3 7991 HP:0000007 Autosomal recessive inheritance OMIM:609533 PCDH15 65217 HP:0000407 Sensorineural hearing impairment OMIM:609533 PCDH15 65217 HP:0000007 Autosomal recessive inheritance OMIM:609533 PCDH15 65217 HP:0003593 Infantile onset OMIM:606690 TSC1 7248 HP:0004370 Abnormality of temperature regulation OMIM:606690 TSC1 7248 HP:0001250 Seizures OMIM:606690 TSC1 7248 HP:0009594 Retinal hamartoma OMIM:606690 TSC1 7248 HP:0001034 Hypermelanotic macule OMIM:606690 TSC1 7248 HP:0002093 Respiratory insufficiency OMIM:606690 TSC1 7248 HP:0009721 Shagreen patch OMIM:606690 TSC1 7248 HP:0002091 Restrictive lung disease OMIM:606690 TSC1 7248 HP:0000113 Polycystic kidney dysplasia OMIM:606690 TSC1 7248 HP:0002113 Pulmonary infiltrates OMIM:606690 TSC1 7248 HP:0009726 Renal neoplasm OMIM:606690 TSC1 7248 HP:0100750 Atelectasis OMIM:606690 TSC1 7248 HP:0002103 Abnormality of the pleura OMIM:606690 TSC1 7248 HP:0002205 Recurrent respiratory infections OMIM:606690 TSC1 7248 HP:0002105 Hemoptysis OMIM:606690 TSC1 7248 HP:0002716 Lymphadenopathy OMIM:606690 TSC1 7248 HP:0100804 Ungual fibroma OMIM:606690 TSC1 7248 HP:0001697 Abnormality of the pericardium OMIM:606690 TSC1 7248 HP:0000648 Optic atrophy OMIM:606690 TSC1 7248 HP:0100543 Cognitive impairment OMIM:606690 TSC1 7248 HP:0002097 Emphysema OMIM:606690 TSC1 7248 HP:0100749 Chest pain OMIM:606690 TSC1 7248 HP:0000790 Hematuria OMIM:606690 TSC1 7248 HP:0000003 Multicystic kidney dysplasia OMIM:606690 TSC1 7248 HP:0012798 Pulmonary lymphangiomyomatosis OMIM:606690 TSC1 7248 HP:0000238 Hydrocephalus OMIM:606690 TSC1 7248 HP:0002027 Abdominal pain OMIM:606690 TSC1 7248 HP:0001004 Lymphedema OMIM:606690 TSC1 7248 HP:0002239 Gastrointestinal hemorrhage OMIM:606690 TSC1 7248 HP:0000008 Abnormality of female internal genitalia OMIM:606690 TSC1 7248 HP:0001541 Ascites OMIM:606690 TSC2 7249 HP:0004370 Abnormality of temperature regulation OMIM:606690 TSC2 7249 HP:0001250 Seizures OMIM:606690 TSC2 7249 HP:0009594 Retinal hamartoma OMIM:606690 TSC2 7249 HP:0001034 Hypermelanotic macule OMIM:606690 TSC2 7249 HP:0002093 Respiratory insufficiency OMIM:606690 TSC2 7249 HP:0009721 Shagreen patch OMIM:606690 TSC2 7249 HP:0002091 Restrictive lung disease OMIM:606690 TSC2 7249 HP:0000113 Polycystic kidney dysplasia OMIM:606690 TSC2 7249 HP:0002113 Pulmonary infiltrates OMIM:606690 TSC2 7249 HP:0009726 Renal neoplasm OMIM:606690 TSC2 7249 HP:0100750 Atelectasis OMIM:606690 TSC2 7249 HP:0002103 Abnormality of the pleura OMIM:606690 TSC2 7249 HP:0002205 Recurrent respiratory infections OMIM:606690 TSC2 7249 HP:0002105 Hemoptysis OMIM:606690 TSC2 7249 HP:0002716 Lymphadenopathy OMIM:606690 TSC2 7249 HP:0100804 Ungual fibroma OMIM:606690 TSC2 7249 HP:0001697 Abnormality of the pericardium OMIM:606690 TSC2 7249 HP:0000648 Optic atrophy OMIM:606690 TSC2 7249 HP:0100543 Cognitive impairment OMIM:606690 TSC2 7249 HP:0002097 Emphysema OMIM:606690 TSC2 7249 HP:0100749 Chest pain OMIM:606690 TSC2 7249 HP:0000790 Hematuria OMIM:606690 TSC2 7249 HP:0000003 Multicystic kidney dysplasia OMIM:606690 TSC2 7249 HP:0012798 Pulmonary lymphangiomyomatosis OMIM:606690 TSC2 7249 HP:0000238 Hydrocephalus OMIM:606690 TSC2 7249 HP:0002027 Abdominal pain OMIM:606690 TSC2 7249 HP:0001004 Lymphedema OMIM:606690 TSC2 7249 HP:0002239 Gastrointestinal hemorrhage OMIM:606690 TSC2 7249 HP:0000008 Abnormality of female internal genitalia OMIM:606690 TSC2 7249 HP:0001541 Ascites ORPHANET:170 KRT71 112802 HP:0008046 Abnormality of the retinal vasculature ORPHANET:170 KRT71 112802 HP:0000615 Abnormality of the pupil ORPHANET:170 KRT71 112802 HP:0002224 Woolly hair ORPHANET:170 KRT71 112802 HP:0005599 Hypopigmentation of hair ORPHANET:170 KRT71 112802 HP:0002213 Fine hair ORPHANET:170 KRT71 112802 HP:0000518 Cataract ORPHANET:170 KRT71 112802 HP:0011362 Abnormal hair quantity ORPHANET:170 KRT71 112802 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:170 KRT71 112802 HP:0000486 Strabismus ORPHANET:170 KRT71 112802 HP:0002217 Slow-growing hair ORPHANET:170 KRT74 121391 HP:0008046 Abnormality of the retinal vasculature ORPHANET:170 KRT74 121391 HP:0000615 Abnormality of the pupil ORPHANET:170 KRT74 121391 HP:0002224 Woolly hair ORPHANET:170 KRT74 121391 HP:0005599 Hypopigmentation of hair ORPHANET:170 KRT74 121391 HP:0002213 Fine hair ORPHANET:170 KRT74 121391 HP:0000518 Cataract ORPHANET:170 KRT74 121391 HP:0011362 Abnormal hair quantity ORPHANET:170 KRT74 121391 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:170 KRT74 121391 HP:0000486 Strabismus ORPHANET:170 KRT74 121391 HP:0002217 Slow-growing hair ORPHANET:170 LIPH 200879 HP:0008046 Abnormality of the retinal vasculature ORPHANET:170 LIPH 200879 HP:0000615 Abnormality of the pupil ORPHANET:170 LIPH 200879 HP:0002224 Woolly hair ORPHANET:170 LIPH 200879 HP:0005599 Hypopigmentation of hair ORPHANET:170 LIPH 200879 HP:0002213 Fine hair ORPHANET:170 LIPH 200879 HP:0000518 Cataract ORPHANET:170 LIPH 200879 HP:0011362 Abnormal hair quantity ORPHANET:170 LIPH 200879 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:170 LIPH 200879 HP:0000486 Strabismus ORPHANET:170 LIPH 200879 HP:0002217 Slow-growing hair ORPHANET:170 LPAR6 10161 HP:0008046 Abnormality of the retinal vasculature ORPHANET:170 LPAR6 10161 HP:0000615 Abnormality of the pupil ORPHANET:170 LPAR6 10161 HP:0002224 Woolly hair ORPHANET:170 LPAR6 10161 HP:0005599 Hypopigmentation of hair ORPHANET:170 LPAR6 10161 HP:0002213 Fine hair ORPHANET:170 LPAR6 10161 HP:0000518 Cataract ORPHANET:170 LPAR6 10161 HP:0011362 Abnormal hair quantity ORPHANET:170 LPAR6 10161 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:170 LPAR6 10161 HP:0000486 Strabismus ORPHANET:170 LPAR6 10161 HP:0002217 Slow-growing hair OMIM:612020 PNPLA6 10908 HP:0009053 Distal lower limb muscle weakness OMIM:612020 PNPLA6 10908 HP:0001251 Ataxia OMIM:612020 PNPLA6 10908 HP:0007020 Progressive spastic paraplegia OMIM:612020 PNPLA6 10908 HP:0001347 Hyperreflexia OMIM:612020 PNPLA6 10908 HP:0006827 Atrophy of the spinal cord OMIM:612020 PNPLA6 10908 HP:0000007 Autosomal recessive inheritance OMIM:612020 PNPLA6 10908 HP:0003487 Babinski sign OMIM:612020 PNPLA6 10908 HP:0001272 Cerebellar atrophy OMIM:612020 PNPLA6 10908 HP:0001288 Gait disturbance OMIM:612020 PNPLA6 10908 HP:0003693 Distal amyotrophy ORPHANET:1766 CA8 767 HP:0001252 Muscular hypotonia ORPHANET:1766 CA8 767 HP:0000486 Strabismus ORPHANET:1766 CA8 767 HP:0001347 Hyperreflexia ORPHANET:1766 CA8 767 HP:0000518 Cataract ORPHANET:1766 CA8 767 HP:0001250 Seizures ORPHANET:1766 CA8 767 HP:0100543 Cognitive impairment ORPHANET:1766 CA8 767 HP:0004374 Hemiplegia/hemiparesis ORPHANET:1766 CA8 767 HP:0003202 Skeletal muscle atrophy ORPHANET:1766 CA8 767 HP:0001288 Gait disturbance ORPHANET:1766 CA8 767 HP:0004322 Short stature ORPHANET:1766 CA8 767 HP:0002311 Incoordination ORPHANET:1766 VLDLR 7436 HP:0001252 Muscular hypotonia ORPHANET:1766 VLDLR 7436 HP:0000486 Strabismus ORPHANET:1766 VLDLR 7436 HP:0001347 Hyperreflexia ORPHANET:1766 VLDLR 7436 HP:0000518 Cataract ORPHANET:1766 VLDLR 7436 HP:0001250 Seizures ORPHANET:1766 VLDLR 7436 HP:0100543 Cognitive impairment ORPHANET:1766 VLDLR 7436 HP:0004374 Hemiplegia/hemiparesis ORPHANET:1766 VLDLR 7436 HP:0003202 Skeletal muscle atrophy ORPHANET:1766 VLDLR 7436 HP:0001288 Gait disturbance ORPHANET:1766 VLDLR 7436 HP:0004322 Short stature ORPHANET:1766 VLDLR 7436 HP:0002311 Incoordination ORPHANET:1766 ATP8A2 51761 HP:0001252 Muscular hypotonia ORPHANET:1766 ATP8A2 51761 HP:0000486 Strabismus ORPHANET:1766 ATP8A2 51761 HP:0001347 Hyperreflexia ORPHANET:1766 ATP8A2 51761 HP:0000518 Cataract ORPHANET:1766 ATP8A2 51761 HP:0001250 Seizures ORPHANET:1766 ATP8A2 51761 HP:0100543 Cognitive impairment ORPHANET:1766 ATP8A2 51761 HP:0004374 Hemiplegia/hemiparesis ORPHANET:1766 ATP8A2 51761 HP:0003202 Skeletal muscle atrophy ORPHANET:1766 ATP8A2 51761 HP:0001288 Gait disturbance ORPHANET:1766 ATP8A2 51761 HP:0004322 Short stature ORPHANET:1766 ATP8A2 51761 HP:0002311 Incoordination ORPHANET:1766 WDR81 124997 HP:0001252 Muscular hypotonia ORPHANET:1766 WDR81 124997 HP:0000486 Strabismus ORPHANET:1766 WDR81 124997 HP:0001347 Hyperreflexia ORPHANET:1766 WDR81 124997 HP:0000518 Cataract ORPHANET:1766 WDR81 124997 HP:0001250 Seizures ORPHANET:1766 WDR81 124997 HP:0100543 Cognitive impairment ORPHANET:1766 WDR81 124997 HP:0004374 Hemiplegia/hemiparesis ORPHANET:1766 WDR81 124997 HP:0003202 Skeletal muscle atrophy ORPHANET:1766 WDR81 124997 HP:0001288 Gait disturbance ORPHANET:1766 WDR81 124997 HP:0004322 Short stature ORPHANET:1766 WDR81 124997 HP:0002311 Incoordination OMIM:615414 PHC1 1911 HP:0000007 Autosomal recessive inheritance OMIM:615414 PHC1 1911 HP:0004322 Short stature OMIM:615414 PHC1 1911 HP:0000252 Microcephaly OMIM:613616 HOGA1 112817 HP:0000007 Autosomal recessive inheritance OMIM:613616 HOGA1 112817 HP:0003159 Hyperoxaluria OMIM:613616 HOGA1 112817 HP:0008672 Calcium oxalate nephrolithiasis OMIM:613093 PDE6C 5146 HP:0000007 Autosomal recessive inheritance OMIM:613093 PDE6C 5146 HP:0000613 Photophobia OMIM:613093 PDE6C 5146 HP:0000639 Nystagmus OMIM:613093 PDE6C 5146 HP:0000505 Visual impairment OMIM:613943 LIPN 643418 HP:0000962 Hyperkeratosis OMIM:613943 LIPN 643418 HP:0040162 Orthokeratosis OMIM:613943 LIPN 643418 HP:0000007 Autosomal recessive inheritance OMIM:613943 LIPN 643418 HP:0008064 Ichthyosis OMIM:605670 C1QTNF5 114902 HP:0007830 Adult-onset night blindness OMIM:605670 C1QTNF5 114902 HP:0000575 Scotoma OMIM:605670 C1QTNF5 114902 HP:0000546 Retinal degeneration OMIM:605670 C1QTNF5 114902 HP:0000006 Autosomal dominant inheritance OMIM:605670 C1QTNF5 114902 HP:0000572 Visual loss OMIM:605670 C1QTNF5 114902 HP:0000510 Retinitis pigmentosa OMIM:614044 PRSS1 5644 HP:0002023 Anal atresia OMIM:614044 PRSS1 5644 HP:0003075 Hypoproteinemia OMIM:614044 PRSS1 5644 HP:0000007 Autosomal recessive inheritance OMIM:614044 PRSS1 5644 HP:0001508 Failure to thrive OMIM:614470 NRAS 4893 HP:0001876 Pancytopenia OMIM:614470 NRAS 4893 HP:0002729 Follicular hyperplasia OMIM:614470 NRAS 4893 HP:0002665 Lymphoma OMIM:614470 NRAS 4893 HP:0001875 Neutropenia OMIM:614470 NRAS 4893 HP:0001878 Hemolytic anemia OMIM:614470 NRAS 4893 HP:0001973 Autoimmune thrombocytopenia OMIM:614470 NRAS 4893 HP:0002731 Defective lymphocyte apoptosis OMIM:614470 NRAS 4893 HP:0001744 Splenomegaly OMIM:614470 NRAS 4893 HP:0012311 Monocytosis OMIM:614470 NRAS 4893 HP:0001909 Leukemia OMIM:614470 NRAS 4893 HP:0010702 Hypergammaglobulinemia OMIM:614470 NRAS 4893 HP:0002240 Hepatomegaly OMIM:614470 NRAS 4893 HP:0002205 Recurrent respiratory infections OMIM:614470 NRAS 4893 HP:0005523 Lymphoproliferative disorder OMIM:610425 CRYBA4 1413 HP:0000006 Autosomal dominant inheritance OMIM:610425 CRYBA4 1413 HP:0007971 Lamellar cataract OMIM:611209 COG1 9382 HP:0001531 Failure to thrive in infancy OMIM:611209 COG1 9382 HP:0008905 Rhizomelia OMIM:611209 COG1 9382 HP:0000319 Smooth philtrum OMIM:611209 COG1 9382 HP:0003160 Abnormal isoelectric focusing of serum transferrin OMIM:611209 COG1 9382 HP:0000938 Osteopenia OMIM:611209 COG1 9382 HP:0008897 Postnatal growth retardation OMIM:611209 COG1 9382 HP:0000007 Autosomal recessive inheritance OMIM:611209 COG1 9382 HP:0001263 Global developmental delay OMIM:611209 COG1 9382 HP:0000253 Progressive microcephaly OMIM:611209 COG1 9382 HP:0001762 Talipes equinovarus OMIM:611209 COG1 9382 HP:0000368 Low-set, posteriorly rotated ears OMIM:611209 COG1 9382 HP:0001252 Muscular hypotonia OMIM:611209 COG1 9382 HP:0003422 Vertebral segmentation defect OMIM:611209 COG1 9382 HP:0003316 Butterfly vertebrae OMIM:176410 LHCGR 3973 HP:0008734 Decreased testicular size OMIM:176410 LHCGR 3973 HP:0001470 Sex-limited autosomal dominant OMIM:176410 LHCGR 3973 HP:0000098 Tall stature OMIM:176410 LHCGR 3973 HP:0000025 Functional abnormality of male internal genitalia OMIM:176410 LHCGR 3973 HP:0005616 Accelerated skeletal maturation OMIM:176410 LHCGR 3973 HP:0001061 Acne OMIM:176410 LHCGR 3973 HP:0007018 Attention deficit hyperactivity disorder OMIM:176410 LHCGR 3973 HP:0000053 Macroorchidism OMIM:176410 LHCGR 3973 HP:0008185 Precocious puberty in males OMIM:176410 LHCGR 3973 HP:0000040 Long penis OMIM:176410 LHCGR 3973 HP:0000144 Decreased fertility OMIM:218040 HRAS 3265 HP:0000470 Short neck OMIM:218040 HRAS 3265 HP:0009588 Vestibular Schwannoma OMIM:218040 HRAS 3265 HP:0000486 Strabismus OMIM:218040 HRAS 3265 HP:0000238 Hydrocephalus OMIM:218040 HRAS 3265 HP:0000768 Pectus carinatum OMIM:218040 HRAS 3265 HP:0000962 Hyperkeratosis OMIM:218040 HRAS 3265 HP:0001561 Polyhydramnios OMIM:218040 HRAS 3265 HP:0000474 Thickened nuchal skin fold OMIM:218040 HRAS 3265 HP:0001263 Global developmental delay OMIM:218040 HRAS 3265 HP:0003745 Sporadic OMIM:218040 HRAS 3265 HP:0001622 Premature birth OMIM:218040 HRAS 3265 HP:0001633 Abnormality of the mitral valve OMIM:218040 HRAS 3265 HP:0001249 Intellectual disability OMIM:218040 HRAS 3265 HP:0009465 Ulnar deviation of finger OMIM:218040 HRAS 3265 HP:0000280 Coarse facial features OMIM:218040 HRAS 3265 HP:0100679 Lack of skin elasticity OMIM:218040 HRAS 3265 HP:0001548 Overgrowth OMIM:218040 HRAS 3265 HP:0001187 Hyperextensibility of the finger joints OMIM:218040 HRAS 3265 HP:0002750 Delayed skeletal maturation OMIM:218040 HRAS 3265 HP:0001800 Hypoplastic toenails OMIM:218040 HRAS 3265 HP:0001816 Thin nail OMIM:218040 HRAS 3265 HP:0000286 Epicanthus OMIM:218040 HRAS 3265 HP:0000256 Macrocephaly OMIM:218040 HRAS 3265 HP:0000218 High palate OMIM:218040 HRAS 3265 HP:0002120 Cerebral cortical atrophy OMIM:218040 HRAS 3265 HP:0012081 Enlarged cerebellum OMIM:218040 HRAS 3265 HP:0000465 Webbed neck OMIM:218040 HRAS 3265 HP:0001634 Mitral valve prolapse OMIM:218040 HRAS 3265 HP:0000158 Macroglossia OMIM:218040 HRAS 3265 HP:0001631 Defect in the atrial septum OMIM:218040 HRAS 3265 HP:0000316 Hypertelorism OMIM:218040 HRAS 3265 HP:0007440 Generalized hyperpigmentation OMIM:218040 HRAS 3265 HP:0002779 Tracheomalacia OMIM:218040 HRAS 3265 HP:0001943 Hypoglycemia OMIM:218040 HRAS 3265 HP:0005280 Depressed nasal bridge OMIM:218040 HRAS 3265 HP:0001762 Talipes equinovarus OMIM:218040 HRAS 3265 HP:0000307 Pointed chin OMIM:218040 HRAS 3265 HP:0004322 Short stature OMIM:218040 HRAS 3265 HP:0001639 Hypertrophic cardiomyopathy OMIM:218040 HRAS 3265 HP:0002212 Curly hair OMIM:218040 HRAS 3265 HP:0002996 Limited elbow movement OMIM:218040 HRAS 3265 HP:0006191 Deep palmar crease OMIM:218040 HRAS 3265 HP:0000358 Posteriorly rotated ears OMIM:218040 HRAS 3265 HP:0001598 Concave nail OMIM:218040 HRAS 3265 HP:0008070 Sparse hair OMIM:218040 HRAS 3265 HP:0000463 Anteverted nares OMIM:218040 HRAS 3265 HP:0001629 Ventricular septal defect OMIM:218040 HRAS 3265 HP:0200043 Verrucae OMIM:218040 HRAS 3265 HP:0002870 Obstructive sleep apnea OMIM:218040 HRAS 3265 HP:0100689 Decreased corneal thickness OMIM:218040 HRAS 3265 HP:0001231 Abnormality of the fingernails OMIM:218040 HRAS 3265 HP:0000260 Wide anterior fontanel OMIM:218040 HRAS 3265 HP:0001869 Deep plantar creases OMIM:218040 HRAS 3265 HP:0001814 Deep-set nails OMIM:218040 HRAS 3265 HP:0000953 Hyperpigmentation of the skin OMIM:218040 HRAS 3265 HP:0002224 Woolly hair OMIM:218040 HRAS 3265 HP:0000179 Thick lower lip vermilion OMIM:218040 HRAS 3265 HP:0005989 Redundant neck skin OMIM:218040 HRAS 3265 HP:0007099 Arnold-Chiari type I malformation OMIM:218040 HRAS 3265 HP:0009748 Large earlobe OMIM:218040 HRAS 3265 HP:0002878 Respiratory failure OMIM:218040 HRAS 3265 HP:0008872 Feeding difficulties in infancy OMIM:218040 HRAS 3265 HP:0011675 Arrhythmia OMIM:218040 HRAS 3265 HP:0000083 Renal insufficiency OMIM:218040 HRAS 3265 HP:0002859 Rhabdomyosarcoma OMIM:218040 HRAS 3265 HP:0000157 Abnormality of the tongue OMIM:218040 HRAS 3265 HP:0002021 Pyloric stenosis OMIM:218040 HRAS 3265 HP:0000973 Cutis laxa OMIM:218040 HRAS 3265 HP:0100729 Large face OMIM:218040 HRAS 3265 HP:0000956 Acanthosis nigricans OMIM:218040 HRAS 3265 HP:0100543 Cognitive impairment OMIM:218040 HRAS 3265 HP:0000494 Downslanted palpebral fissures OMIM:218040 HRAS 3265 HP:0002862 Bladder carcinoma OMIM:218040 HRAS 3265 HP:0001642 Pulmonic stenosis OMIM:218040 HRAS 3265 HP:0001508 Failure to thrive OMIM:218040 HRAS 3265 HP:0001382 Joint hypermobility OMIM:218040 HRAS 3265 HP:0000293 Full cheeks OMIM:218040 HRAS 3265 HP:0007477 Abnormal dermatoglyphics OMIM:218040 HRAS 3265 HP:0003764 Nevus OMIM:218040 HRAS 3265 HP:0000028 Cryptorchidism OMIM:218040 HRAS 3265 HP:0002107 Pneumothorax OMIM:218040 HRAS 3265 HP:0000174 Abnormality of the palate OMIM:218040 HRAS 3265 HP:0100261 Abnormal tendon morphology OMIM:218040 HRAS 3265 HP:0001641 Abnormality of the pulmonary valve OMIM:218040 HRAS 3265 HP:0001552 Barrel-shaped chest OMIM:218040 HRAS 3265 HP:0000682 Abnormality of dental enamel OMIM:218040 HRAS 3265 HP:0000006 Autosomal dominant inheritance OMIM:218040 HRAS 3265 HP:0001771 Achilles tendon contracture OMIM:218040 HRAS 3265 HP:0002059 Cerebral atrophy OMIM:218040 HRAS 3265 HP:0002780 Bronchomalacia OMIM:218040 HRAS 3265 HP:0000369 Low-set ears OMIM:218040 HRAS 3265 HP:0001609 Hoarse voice OMIM:218040 HRAS 3265 HP:0001808 Fragile nails OMIM:218040 HRAS 3265 HP:0002119 Ventriculomegaly OMIM:218040 HRAS 3265 HP:0001699 Sudden death OMIM:218040 HRAS 3265 HP:0000347 Micrognathia OMIM:218040 HRAS 3265 HP:0000368 Low-set, posteriorly rotated ears OMIM:218040 HRAS 3265 HP:0000508 Ptosis OMIM:218040 HRAS 3265 HP:0002033 Poor suck OMIM:230200 GALK1 2584 HP:0000518 Cataract OMIM:230200 GALK1 2584 HP:0012024 Hypergalactosemia OMIM:230200 GALK1 2584 HP:0006579 Prolonged neonatal jaundice OMIM:230200 GALK1 2584 HP:0012023 Galactosuria OMIM:230200 GALK1 2584 HP:0002516 Increased intracranial pressure OMIM:230200 GALK1 2584 HP:0000007 Autosomal recessive inheritance OMIM:605130 KMT2A 4297 HP:0000445 Wide nose OMIM:605130 KMT2A 4297 HP:0000527 Long eyelashes OMIM:605130 KMT2A 4297 HP:0002136 Broad-based gait OMIM:605130 KMT2A 4297 HP:0000218 High palate OMIM:605130 KMT2A 4297 HP:0000581 Blepharophimosis OMIM:605130 KMT2A 4297 HP:0000316 Hypertelorism OMIM:605130 KMT2A 4297 HP:0004209 Clinodactyly of the 5th finger OMIM:605130 KMT2A 4297 HP:0000664 Synophrys OMIM:605130 KMT2A 4297 HP:0000343 Long philtrum OMIM:605130 KMT2A 4297 HP:0000286 Epicanthus OMIM:605130 KMT2A 4297 HP:0000219 Thin upper lip vermilion OMIM:605130 KMT2A 4297 HP:0001250 Seizures OMIM:605130 KMT2A 4297 HP:0001182 Tapered finger OMIM:605130 KMT2A 4297 HP:0000574 Thick eyebrow OMIM:605130 KMT2A 4297 HP:0001249 Intellectual disability OMIM:605130 KMT2A 4297 HP:0001252 Muscular hypotonia OMIM:605130 KMT2A 4297 HP:0002750 Delayed skeletal maturation OMIM:605130 KMT2A 4297 HP:0000750 Delayed speech and language development OMIM:605130 KMT2A 4297 HP:0001831 Short toe OMIM:605130 KMT2A 4297 HP:0000369 Low-set ears OMIM:605130 KMT2A 4297 HP:0001508 Failure to thrive OMIM:605130 KMT2A 4297 HP:0004322 Short stature OMIM:605130 KMT2A 4297 HP:0002019 Constipation OMIM:605130 KMT2A 4297 HP:0005819 Short middle phalanx of finger OMIM:605130 KMT2A 4297 HP:0000494 Downslanted palpebral fissures OMIM:605130 KMT2A 4297 HP:0012368 Flat face OMIM:605130 KMT2A 4297 HP:0000960 Sacral dimple OMIM:605130 KMT2A 4297 HP:0000486 Strabismus OMIM:605130 KMT2A 4297 HP:0000718 Aggressive behavior OMIM:179618 RCVRN 5957 HP:0000478 Abnormality of the eye OMIM:179618 RCVRN 5957 HP:0000006 Autosomal dominant inheritance OMIM:257270 GRM6 2916 HP:0000545 Myopia OMIM:257270 GRM6 2916 HP:0012047 Hemeralopia OMIM:257270 GRM6 2916 HP:0007642 Congenital stationary night blindness OMIM:257270 GRM6 2916 HP:0000007 Autosomal recessive inheritance ORPHANET:2598 PUS1 80324 HP:0100543 Cognitive impairment ORPHANET:2598 PUS1 80324 HP:0003202 Skeletal muscle atrophy ORPHANET:2598 PUS1 80324 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:2598 PUS1 80324 HP:0000347 Micrognathia ORPHANET:2598 PUS1 80324 HP:0003457 EMG abnormality ORPHANET:2598 PUS1 80324 HP:0001252 Muscular hypotonia ORPHANET:2598 PUS1 80324 HP:0003196 Short nose ORPHANET:2598 PUS1 80324 HP:0009743 Distichiasis ORPHANET:2598 PUS1 80324 HP:0000078 Abnormality of the genital system ORPHANET:2598 PUS1 80324 HP:0000343 Long philtrum ORPHANET:2598 PUS1 80324 HP:0002650 Scoliosis ORPHANET:2598 PUS1 80324 HP:0000252 Microcephaly ORPHANET:2598 PUS1 80324 HP:0001903 Anemia ORPHANET:2598 PUS1 80324 HP:0000501 Glaucoma ORPHANET:2598 PUS1 80324 HP:0003198 Myopathy ORPHANET:2598 PUS1 80324 HP:0000174 Abnormality of the palate ORPHANET:2598 PUS1 80324 HP:0002808 Kyphosis ORPHANET:2598 YARS2 51067 HP:0100543 Cognitive impairment ORPHANET:2598 YARS2 51067 HP:0003202 Skeletal muscle atrophy ORPHANET:2598 YARS2 51067 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:2598 YARS2 51067 HP:0000347 Micrognathia ORPHANET:2598 YARS2 51067 HP:0003457 EMG abnormality ORPHANET:2598 YARS2 51067 HP:0001252 Muscular hypotonia ORPHANET:2598 YARS2 51067 HP:0003196 Short nose ORPHANET:2598 YARS2 51067 HP:0009743 Distichiasis ORPHANET:2598 YARS2 51067 HP:0000078 Abnormality of the genital system ORPHANET:2598 YARS2 51067 HP:0000343 Long philtrum ORPHANET:2598 YARS2 51067 HP:0002650 Scoliosis ORPHANET:2598 YARS2 51067 HP:0000252 Microcephaly ORPHANET:2598 YARS2 51067 HP:0001903 Anemia ORPHANET:2598 YARS2 51067 HP:0000501 Glaucoma ORPHANET:2598 YARS2 51067 HP:0003198 Myopathy ORPHANET:2598 YARS2 51067 HP:0000174 Abnormality of the palate ORPHANET:2598 YARS2 51067 HP:0002808 Kyphosis OMIM:212720 RAB3GAP2 25782 HP:0000286 Epicanthus OMIM:212720 RAB3GAP2 25782 HP:0001831 Short toe OMIM:212720 RAB3GAP2 25782 HP:0002162 Low posterior hairline OMIM:212720 RAB3GAP2 25782 HP:0002779 Tracheomalacia OMIM:212720 RAB3GAP2 25782 HP:0007477 Abnormal dermatoglyphics OMIM:212720 RAB3GAP2 25782 HP:0000164 Abnormality of the teeth OMIM:212720 RAB3GAP2 25782 HP:0001635 Congestive heart failure OMIM:212720 RAB3GAP2 25782 HP:0007495 Prematurely aged appearance OMIM:212720 RAB3GAP2 25782 HP:0000232 Everted lower lip vermilion OMIM:212720 RAB3GAP2 25782 HP:0004322 Short stature OMIM:212720 RAB3GAP2 25782 HP:0005280 Depressed nasal bridge OMIM:212720 RAB3GAP2 25782 HP:0002120 Cerebral cortical atrophy OMIM:212720 RAB3GAP2 25782 HP:0010049 Short metacarpal OMIM:212720 RAB3GAP2 25782 HP:0000767 Pectus excavatum OMIM:212720 RAB3GAP2 25782 HP:0000494 Downslanted palpebral fissures OMIM:212720 RAB3GAP2 25782 HP:0002650 Scoliosis OMIM:212720 RAB3GAP2 25782 HP:0003307 Hyperlordosis OMIM:212720 RAB3GAP2 25782 HP:0000347 Micrognathia OMIM:212720 RAB3GAP2 25782 HP:0000322 Short philtrum OMIM:212720 RAB3GAP2 25782 HP:0001638 Cardiomyopathy OMIM:212720 RAB3GAP2 25782 HP:0002205 Recurrent respiratory infections OMIM:212720 RAB3GAP2 25782 HP:0009465 Ulnar deviation of finger OMIM:212720 RAB3GAP2 25782 HP:0000601 Hypotelorism OMIM:212720 RAB3GAP2 25782 HP:0008593 Prominent antitragus OMIM:212720 RAB3GAP2 25782 HP:0008388 Abnormality of the toenails OMIM:212720 RAB3GAP2 25782 HP:0000252 Microcephaly OMIM:212720 RAB3GAP2 25782 HP:0000272 Malar flattening OMIM:212720 RAB3GAP2 25782 HP:0009832 Abnormality of the distal phalanx of finger OMIM:212720 RAB3GAP2 25782 HP:0000327 Hypoplasia of the maxilla OMIM:212720 RAB3GAP2 25782 HP:0004405 Prominent nipples OMIM:212720 RAB3GAP2 25782 HP:0002938 Lumbar hyperlordosis OMIM:212720 RAB3GAP2 25782 HP:0000768 Pectus carinatum OMIM:212720 RAB3GAP2 25782 HP:0000692 Misalignment of teeth OMIM:212720 RAB3GAP2 25782 HP:0000044 Hypogonadotrophic hypogonadism OMIM:212720 RAB3GAP2 25782 HP:0000218 High palate OMIM:212720 RAB3GAP2 25782 HP:0001840 Metatarsus adductus OMIM:212720 RAB3GAP2 25782 HP:0004279 Short palm OMIM:212720 RAB3GAP2 25782 HP:0010669 Cheekbone underdevelopment OMIM:212720 RAB3GAP2 25782 HP:0000368 Low-set, posteriorly rotated ears OMIM:212720 RAB3GAP2 25782 HP:0000455 Broad nasal tip OMIM:212720 RAB3GAP2 25782 HP:0000221 Furrowed tongue OMIM:212720 RAB3GAP2 25782 HP:0100543 Cognitive impairment OMIM:212720 RAB3GAP2 25782 HP:0000518 Cataract OMIM:212720 RAB3GAP2 25782 HP:0000028 Cryptorchidism OMIM:212720 RAB3GAP2 25782 HP:0011300 Broad fingertip OMIM:212720 RAB3GAP2 25782 HP:0009803 Short phalanx of finger OMIM:212720 RAB3GAP2 25782 HP:0006887 Intellectual disability, progressive OMIM:212720 RAB3GAP2 25782 HP:0009738 Abnormality of the antihelix OMIM:212720 RAB3GAP2 25782 HP:0004684 Talipes valgus OMIM:212720 RAB3GAP2 25782 HP:0000174 Abnormality of the palate OMIM:212720 RAB3GAP2 25782 HP:0003992 Slender ulna OMIM:212720 RAB3GAP2 25782 HP:0000007 Autosomal recessive inheritance OMIM:212720 RAB3GAP2 25782 HP:0000358 Posteriorly rotated ears OMIM:212720 RAB3GAP2 25782 HP:0008872 Feeding difficulties in infancy OMIM:212720 RAB3GAP2 25782 HP:0002648 Abnormality of calvarial morphology OMIM:212720 RAB3GAP2 25782 HP:0010864 Intellectual disability, severe OMIM:212720 RAB3GAP2 25782 HP:0000054 Micropenis OMIM:212720 RAB3GAP2 25782 HP:0001762 Talipes equinovarus OMIM:212720 RAB3GAP2 25782 HP:0000248 Brachycephaly OMIM:609136 SOX10 6663 HP:0002019 Constipation OMIM:609136 SOX10 6663 HP:0000426 Prominent nasal bridge OMIM:609136 SOX10 6663 HP:0000534 Abnormality of the eyebrow OMIM:609136 SOX10 6663 HP:0002271 Autonomic dysregulation OMIM:609136 SOX10 6663 HP:0011285 Long-segment aganglionic megacolon OMIM:609136 SOX10 6663 HP:0007108 Demyelinating peripheral neuropathy OMIM:609136 SOX10 6663 HP:0001100 Heterochromia iridis OMIM:609136 SOX10 6663 HP:0001284 Areflexia OMIM:609136 SOX10 6663 HP:0002460 Distal muscle weakness OMIM:609136 SOX10 6663 HP:0011096 Peripheral demyelination OMIM:609136 SOX10 6663 HP:0000028 Cryptorchidism OMIM:609136 SOX10 6663 HP:0002227 White eyelashes OMIM:609136 SOX10 6663 HP:0000522 Alacrima OMIM:609136 SOX10 6663 HP:0000407 Sensorineural hearing impairment OMIM:609136 SOX10 6663 HP:0001319 Neonatal hypotonia OMIM:609136 SOX10 6663 HP:0007266 Cerebral dysmyelination OMIM:609136 SOX10 6663 HP:0002313 Spastic paraparesis OMIM:609136 SOX10 6663 HP:0002027 Abdominal pain OMIM:609136 SOX10 6663 HP:0001761 Pes cavus OMIM:609136 SOX10 6663 HP:0001053 Hypopigmented skin patches OMIM:609136 SOX10 6663 HP:0009830 Peripheral neuropathy OMIM:609136 SOX10 6663 HP:0001252 Muscular hypotonia OMIM:609136 SOX10 6663 HP:0002211 White forelock OMIM:609136 SOX10 6663 HP:0000006 Autosomal dominant inheritance OMIM:609136 SOX10 6663 HP:0000639 Nystagmus OMIM:609136 SOX10 6663 HP:0011675 Arrhythmia OMIM:609136 SOX10 6663 HP:0001265 Hyporeflexia OMIM:609136 SOX10 6663 HP:0001276 Hypertonia OMIM:609136 SOX10 6663 HP:0002936 Distal sensory impairment OMIM:609136 SOX10 6663 HP:0006978 Dysmyelinating leukodystrophy OMIM:609136 SOX10 6663 HP:0001250 Seizures OMIM:609136 SOX10 6663 HP:0011382 Hypoplasia of the semicircular canal OMIM:609136 SOX10 6663 HP:0100543 Cognitive impairment OMIM:609136 SOX10 6663 HP:0001744 Splenomegaly OMIM:609136 SOX10 6663 HP:0002251 Aganglionic megacolon OMIM:609136 SOX10 6663 HP:0000430 Underdeveloped nasal alae OMIM:609136 SOX10 6663 HP:0100811 Aplasia/Hypoplasia of the colon OMIM:609136 SOX10 6663 HP:0007256 Abnormal pyramidal signs OMIM:609136 SOX10 6663 HP:0001251 Ataxia OMIM:609136 SOX10 6663 HP:0000762 Decreased nerve conduction velocity OMIM:609136 SOX10 6663 HP:0002311 Incoordination OMIM:609136 SOX10 6663 HP:0007182 Peripheral hypomyelination OMIM:609136 SOX10 6663 HP:0001249 Intellectual disability OMIM:609136 SOX10 6663 HP:0000506 Telecanthus OMIM:609136 SOX10 6663 HP:0004336 Myelin outfoldings OMIM:609136 SOX10 6663 HP:0000078 Abnormality of the genital system OMIM:609136 SOX10 6663 HP:0002216 Premature graying of hair OMIM:609136 SOX10 6663 HP:0005599 Hypopigmentation of hair OMIM:609136 SOX10 6663 HP:0002804 Arthrogryposis multiplex congenita OMIM:609136 SOX10 6663 HP:0003693 Distal amyotrophy OMIM:609136 SOX10 6663 HP:0001263 Global developmental delay OMIM:609136 SOX10 6663 HP:0004463 Absent brainstem auditory responses OMIM:609136 SOX10 6663 HP:0002226 White eyebrow OMIM:609136 SOX10 6663 HP:0005214 Intestinal obstruction OMIM:609136 SOX10 6663 HP:0002510 Spastic tetraplegia OMIM:609136 SOX10 6663 HP:0000458 Anosmia OMIM:609136 SOX10 6663 HP:0000966 Hypohidrosis OMIM:609136 SOX10 6663 HP:0002240 Hepatomegaly OMIM:609136 SOX10 6663 HP:0100684 Salivary gland neoplasm OMIM:128235 ATP1A3 478 HP:0003829 Incomplete penetrance OMIM:128235 ATP1A3 478 HP:0000006 Autosomal dominant inheritance OMIM:128235 ATP1A3 478 HP:0001300 Parkinsonism OMIM:128235 ATP1A3 478 HP:0000739 Anxiety OMIM:128235 ATP1A3 478 HP:0000473 Torticollis OMIM:128235 ATP1A3 478 HP:0001260 Dysarthria OMIM:128235 ATP1A3 478 HP:0002172 Postural instability OMIM:128235 ATP1A3 478 HP:0002300 Mutism OMIM:128235 ATP1A3 478 HP:0002317 Unsteady gait OMIM:128235 ATP1A3 478 HP:0000338 Hypomimic face OMIM:128235 ATP1A3 478 HP:0002307 Drooling OMIM:128235 ATP1A3 478 HP:0000716 Depression OMIM:128235 ATP1A3 478 HP:0002067 Bradykinesia OMIM:128235 ATP1A3 478 HP:0011462 Young adult onset OMIM:128235 ATP1A3 478 HP:0000712 Emotional lability OMIM:128235 ATP1A3 478 HP:0002015 Dysphagia OMIM:125800 AQP2 359 HP:0000007 Autosomal recessive inheritance OMIM:125800 AQP2 359 HP:0008872 Feeding difficulties in infancy OMIM:125800 AQP2 359 HP:0003228 Hypernatremia OMIM:125800 AQP2 359 HP:0000103 Polyuria OMIM:125800 AQP2 359 HP:0001250 Seizures OMIM:125800 AQP2 359 HP:0001508 Failure to thrive OMIM:125800 AQP2 359 HP:0002013 Vomiting OMIM:125800 AQP2 359 HP:0004322 Short stature OMIM:125800 AQP2 359 HP:0003623 Neonatal onset OMIM:125800 AQP2 359 HP:0009806 Nephrogenic diabetes insipidus OMIM:125800 AQP2 359 HP:0000737 Irritability OMIM:125800 AQP2 359 HP:0001249 Intellectual disability OMIM:125800 AQP2 359 HP:0000006 Autosomal dominant inheritance OMIM:125800 AQP2 359 HP:0001959 Polydipsia OMIM:125800 AQP2 359 HP:0001986 Hypertonic dehydration OMIM:125800 AQP2 359 HP:0002019 Constipation OMIM:125800 AQP2 359 HP:0000021 Megacystis OMIM:125800 AQP2 359 HP:0001955 Unexplained fevers OMIM:270450 IGF1R 3480 HP:0000767 Pectus excavatum OMIM:270450 IGF1R 3480 HP:0000233 Thin vermilion border OMIM:270450 IGF1R 3480 HP:0004325 Decreased body weight OMIM:270450 IGF1R 3480 HP:0000750 Delayed speech and language development OMIM:270450 IGF1R 3480 HP:0002750 Delayed skeletal maturation OMIM:270450 IGF1R 3480 HP:0001156 Brachydactyly syndrome OMIM:270450 IGF1R 3480 HP:0000252 Microcephaly OMIM:270450 IGF1R 3480 HP:0001270 Motor delay OMIM:270450 IGF1R 3480 HP:0000006 Autosomal dominant inheritance OMIM:270450 IGF1R 3480 HP:0000713 Agitation OMIM:270450 IGF1R 3480 HP:0030269 Increased serum insulin-like growth factor 1 {comment="HPO:probinson"} OMIM:270450 IGF1R 3480 HP:0000007 Autosomal recessive inheritance OMIM:270450 IGF1R 3480 HP:0000431 Wide nasal bridge OMIM:270450 IGF1R 3480 HP:0001547 Abnormality of the rib cage OMIM:270450 IGF1R 3480 HP:0000219 Thin upper lip vermilion OMIM:270450 IGF1R 3480 HP:0009466 Radial deviation of finger OMIM:270450 IGF1R 3480 HP:0100543 Cognitive impairment OMIM:270450 IGF1R 3480 HP:0000232 Everted lower lip vermilion OMIM:270450 IGF1R 3480 HP:0001511 Intrauterine growth retardation OMIM:270450 IGF1R 3480 HP:0004322 Short stature OMIM:270450 IGF1R 3480 HP:0030084 Clinodactyly OMIM:270450 IGF1R 3480 HP:0000319 Smooth philtrum OMIM:270450 IGF1R 3480 HP:0004404 Abnormality of the nipple OMIM:270450 IGF1R 3480 HP:0000739 Anxiety OMIM:270450 IGF1R 3480 HP:0001999 Abnormal facial shape OMIM:270450 IGF1R 3480 HP:0000343 Long philtrum OMIM:270450 IGF1R 3480 HP:0003577 Congenital onset OMIM:260500 TP53 7157 HP:0000007 Autosomal recessive inheritance OMIM:260500 TP53 7157 HP:0001250 Seizures OMIM:260500 TP53 7157 HP:0004374 Hemiplegia/hemiparesis OMIM:260500 TP53 7157 HP:0000238 Hydrocephalus OMIM:260500 TP53 7157 HP:0200022 Choroid plexus papilloma OMIM:260500 TP53 7157 HP:0012740 Papilloma OMIM:260500 TP53 7157 HP:0100543 Cognitive impairment OMIM:260500 TP53 7157 HP:0004375 Neoplasm of the nervous system OMIM:260500 TP53 7157 HP:0000505 Visual impairment OMIM:260500 TP53 7157 HP:0001276 Hypertonia OMIM:190440 FGFR1 2260 HP:0002245 Meckel diverticulum OMIM:190440 FGFR1 2260 HP:0000252 Microcephaly OMIM:190440 FGFR1 2260 HP:0000601 Hypotelorism OMIM:190440 FGFR1 2260 HP:0008439 Lumbar hemivertebrae OMIM:190440 FGFR1 2260 HP:0000006 Autosomal dominant inheritance OMIM:190440 FGFR1 2260 HP:0000040 Long penis OMIM:190440 FGFR1 2260 HP:0000664 Synophrys OMIM:190440 FGFR1 2260 HP:0000384 Preauricular skin tag OMIM:190440 FGFR1 2260 HP:0000243 Trigonocephaly OMIM:190440 FGFR1 2260 HP:0001539 Omphalocele OMIM:190440 FGFR1 2260 HP:0001363 Craniosynostosis OMIM:613731 RHO 6010 HP:0000006 Autosomal dominant inheritance OMIM:613731 RHO 6010 HP:0000510 Retinitis pigmentosa OMIM:613731 RHO 6010 HP:0000007 Autosomal recessive inheritance OMIM:613731 RHO 6010 HP:0000580 Pigmentary retinopathy OMIM:613731 RHO 6010 HP:0000662 Night blindness OMIM:613731 RHO 6010 HP:0000518 Cataract OMIM:613731 RHO 6010 HP:0001123 Visual field defect OMIM:613731 RHO 6010 HP:0000512 Abnormal electroretinogram OMIM:614416 CYP26B1 56603 HP:0012165 Oligodactyly OMIM:614416 CYP26B1 56603 HP:0000007 Autosomal recessive inheritance OMIM:614416 CYP26B1 56603 HP:0001166 Arachnodactyly OMIM:614416 CYP26B1 56603 HP:0003041 Humeroradial synostosis OMIM:614416 CYP26B1 56603 HP:0001363 Craniosynostosis OMIM:614416 CYP26B1 56603 HP:0000248 Brachycephaly OMIM:614416 CYP26B1 56603 HP:0002085 Occipital encephalocele OMIM:232220 SLC37A4 2542 HP:0000093 Proteinuria OMIM:232220 SLC37A4 2542 HP:0003128 Lactic acidosis OMIM:232220 SLC37A4 2542 HP:0001875 Neutropenia OMIM:232220 SLC37A4 2542 HP:0000660 Lipemia retinalis OMIM:232220 SLC37A4 2542 HP:0000822 Hypertension OMIM:232220 SLC37A4 2542 HP:0002240 Hepatomegaly OMIM:232220 SLC37A4 2542 HP:0000007 Autosomal recessive inheritance OMIM:232220 SLC37A4 2542 HP:0000155 Oral ulcer OMIM:232220 SLC37A4 2542 HP:0001538 Protuberant abdomen OMIM:232220 SLC37A4 2542 HP:0000823 Delayed puberty OMIM:232220 SLC37A4 2542 HP:0000939 Osteoporosis OMIM:232220 SLC37A4 2542 HP:0000787 Nephrolithiasis OMIM:232220 SLC37A4 2542 HP:0000991 Xanthomatosis OMIM:232220 SLC37A4 2542 HP:0003077 Hyperlipidemia OMIM:232220 SLC37A4 2542 HP:0000105 Enlarged kidneys OMIM:232220 SLC37A4 2542 HP:0002718 Recurrent bacterial infections OMIM:232220 SLC37A4 2542 HP:0002910 Elevated hepatic transaminases OMIM:232220 SLC37A4 2542 HP:0004322 Short stature OMIM:232220 SLC37A4 2542 HP:0000097 Focal segmental glomerulosclerosis OMIM:232220 SLC37A4 2542 HP:0001997 Gout OMIM:232220 SLC37A4 2542 HP:0001402 Hepatocellular carcinoma OMIM:232220 SLC37A4 2542 HP:0001733 Pancreatitis OMIM:232220 SLC37A4 2542 HP:0001943 Hypoglycemia OMIM:232220 SLC37A4 2542 HP:0012213 Decreased glomerular filtration rate OMIM:232220 SLC37A4 2542 HP:0000295 Doll-like facies OMIM:227645 FANCC 2176 HP:0003974 Absent radius OMIM:227645 FANCC 2176 HP:0001909 Leukemia OMIM:227645 FANCC 2176 HP:0001875 Neutropenia OMIM:227645 FANCC 2176 HP:0009943 Complete duplication of thumb phalanx OMIM:227645 FANCC 2176 HP:0000815 Hypergonadotropic hypogonadism OMIM:227645 FANCC 2176 HP:0000086 Ectopic kidney OMIM:227645 FANCC 2176 HP:0001249 Intellectual disability OMIM:227645 FANCC 2176 HP:0003214 Prolonged G2 phase of cell cycle OMIM:227645 FANCC 2176 HP:0000957 Cafe-au-lait spot OMIM:227645 FANCC 2176 HP:0000978 Bruising susceptibility OMIM:227645 FANCC 2176 HP:0000085 Horseshoe kidney OMIM:227645 FANCC 2176 HP:0001896 Reticulocytopenia OMIM:227645 FANCC 2176 HP:0000568 Microphthalmos OMIM:227645 FANCC 2176 HP:0001017 Anemic pallor OMIM:227645 FANCC 2176 HP:0009777 Absent thumb OMIM:227645 FANCC 2176 HP:0009778 Short thumb OMIM:227645 FANCC 2176 HP:0000104 Renal agenesis OMIM:227645 FANCC 2176 HP:0000486 Strabismus OMIM:227645 FANCC 2176 HP:0001518 Small for gestational age OMIM:227645 FANCC 2176 HP:0004322 Short stature OMIM:227645 FANCC 2176 HP:0001000 Abnormality of skin pigmentation OMIM:227645 FANCC 2176 HP:0000252 Microcephaly OMIM:227645 FANCC 2176 HP:0001903 Anemia OMIM:227645 FANCC 2176 HP:0000028 Cryptorchidism OMIM:227645 FANCC 2176 HP:0000007 Autosomal recessive inheritance OMIM:227645 FANCC 2176 HP:0002564 Malformation of the heart and great vessels OMIM:227645 FANCC 2176 HP:0000365 Hearing impairment OMIM:227645 FANCC 2176 HP:0001873 Thrombocytopenia OMIM:227645 FANCC 2176 HP:0003221 Chromosomal breakage induced by crosslinking agents OMIM:227645 FANCC 2176 HP:0000081 Duplicated collecting system OMIM:227645 FANCC 2176 HP:0003213 Deficient excision of UV-induced pyrimidine dimers in DNA OMIM:227645 FANCC 2176 HP:0001876 Pancytopenia OMIM:613863 SCN9A 6335 HP:0002069 Generalized tonic-clonic seizures OMIM:613863 SCN9A 6335 HP:0007359 Focal seizures OMIM:613863 SCN9A 6335 HP:0002373 Febrile seizures OMIM:613863 SCN9A 6335 HP:0010819 Atonic seizures OMIM:613863 SCN9A 6335 HP:0002121 Absence seizures OMIM:613863 SCN9A 6335 HP:0003828 Variable expressivity OMIM:613863 SCN9A 6335 HP:0000006 Autosomal dominant inheritance OMIM:243150 TTC7A 57217 HP:0002566 Intestinal malrotation OMIM:243150 TTC7A 57217 HP:0100867 Duodenal stenosis OMIM:243150 TTC7A 57217 HP:0001561 Polyhydramnios OMIM:243150 TTC7A 57217 HP:0001629 Ventricular septal defect OMIM:243150 TTC7A 57217 HP:0000778 Hypoplasia of the thymus OMIM:243150 TTC7A 57217 HP:0001890 Autoimmune hemolytic anemia OMIM:243150 TTC7A 57217 HP:0000007 Autosomal recessive inheritance OMIM:243150 TTC7A 57217 HP:0001539 Omphalocele OMIM:243150 TTC7A 57217 HP:0000924 Abnormality of the skeletal system OMIM:243150 TTC7A 57217 HP:0002573 Hematochezia OMIM:243150 TTC7A 57217 HP:0001511 Intrauterine growth retardation OMIM:243150 TTC7A 57217 HP:0011100 Intestinal atresia OMIM:243150 TTC7A 57217 HP:0003765 Psoriasis OMIM:604400 TMEM43 79188 HP:0011663 Right ventricular cardiomyopathy OMIM:604400 TMEM43 79188 HP:0004756 Ventricular tachycardia OMIM:604400 TMEM43 79188 HP:0000006 Autosomal dominant inheritance OMIM:604400 TMEM43 79188 HP:0006682 Ventricular extrasystoles OMIM:604400 TMEM43 79188 HP:0001645 Sudden cardiac death OMIM:604400 TMEM43 79188 HP:0006677 Prolonged QRS complex OMIM:604400 TMEM43 79188 HP:0001962 Palpitations OMIM:615386 SPTBN2 6712 HP:0002080 Intention tremor OMIM:615386 SPTBN2 6712 HP:0000571 Hypometric saccades OMIM:615386 SPTBN2 6712 HP:0000639 Nystagmus OMIM:615386 SPTBN2 6712 HP:0001310 Dysmetria OMIM:615386 SPTBN2 6712 HP:0002066 Gait ataxia OMIM:615386 SPTBN2 6712 HP:0000007 Autosomal recessive inheritance OMIM:615386 SPTBN2 6712 HP:0002075 Dysdiadochokinesis OMIM:615386 SPTBN2 6712 HP:0003677 Slow progression OMIM:615386 SPTBN2 6712 HP:0001263 Global developmental delay OMIM:615386 SPTBN2 6712 HP:0001347 Hyperreflexia OMIM:615386 SPTBN2 6712 HP:0000750 Delayed speech and language development OMIM:615386 SPTBN2 6712 HP:0008003 Jerky ocular pursuit movements OMIM:615386 SPTBN2 6712 HP:0001257 Spasticity OMIM:615386 SPTBN2 6712 HP:0001272 Cerebellar atrophy OMIM:615386 SPTBN2 6712 HP:0003593 Infantile onset OMIM:225753 TSEN54 283989 HP:0003577 Congenital onset OMIM:225753 TSEN54 283989 HP:0000252 Microcephaly OMIM:225753 TSEN54 283989 HP:0000007 Autosomal recessive inheritance OMIM:225753 TSEN54 283989 HP:0002803 Congenital contracture OMIM:225753 TSEN54 283989 HP:0001939 Abnormality of metabolism/homeostasis OMIM:225753 TSEN54 283989 HP:0001561 Polyhydramnios OMIM:225753 TSEN54 283989 HP:0001336 Myoclonus OMIM:225753 TSEN54 283989 HP:0007105 Infantile encephalopathy OMIM:225753 TSEN54 283989 HP:0001257 Spasticity OMIM:225753 TSEN54 283989 HP:0001321 Cerebellar hypoplasia OMIM:225753 TSEN54 283989 HP:0002171 Gliosis OMIM:225753 TSEN54 283989 HP:0001522 Death in infancy OMIM:225753 TSEN54 283989 HP:0012110 Hypoplasia of the pons OMIM:225753 TSEN54 283989 HP:0007001 Loss of Purkinje cells in the cerebellar vermis OMIM:225753 TSEN54 283989 HP:0002365 Hypoplasia of the brainstem OMIM:225753 TSEN54 283989 HP:0001250 Seizures OMIM:225753 TSEN54 283989 HP:0011344 Severe global developmental delay OMIM:600001 GATA6 2627 HP:0001537 Umbilical hernia OMIM:600001 GATA6 2627 HP:0001643 Patent ductus arteriosus OMIM:600001 GATA6 2627 HP:0000023 Inguinal hernia OMIM:600001 GATA6 2627 HP:0005912 Biliary atresia OMIM:600001 GATA6 2627 HP:0001642 Pulmonic stenosis OMIM:600001 GATA6 2627 HP:0003076 Glycosuria OMIM:600001 GATA6 2627 HP:0001508 Failure to thrive OMIM:600001 GATA6 2627 HP:0001195 Single umbilical artery OMIM:600001 GATA6 2627 HP:0000006 Autosomal dominant inheritance OMIM:600001 GATA6 2627 HP:0011682 Perimembranous ventricular septal defect OMIM:600001 GATA6 2627 HP:0001263 Global developmental delay OMIM:600001 GATA6 2627 HP:0001636 Tetralogy of Fallot OMIM:600001 GATA6 2627 HP:0001511 Intrauterine growth retardation OMIM:600001 GATA6 2627 HP:0001250 Seizures OMIM:600001 GATA6 2627 HP:0000252 Microcephaly OMIM:600001 GATA6 2627 HP:0000073 Ureteral duplication OMIM:600001 GATA6 2627 HP:0000776 Congenital diaphragmatic hernia OMIM:600001 GATA6 2627 HP:0003074 Hyperglycemia OMIM:600001 GATA6 2627 HP:0004388 Microcolon OMIM:600001 GATA6 2627 HP:0001669 Transposition of the great arteries OMIM:600001 GATA6 2627 HP:0001655 Patent foramen ovale OMIM:600001 GATA6 2627 HP:0011611 Interrupted aortic arch OMIM:600001 GATA6 2627 HP:0002566 Intestinal malrotation OMIM:600001 GATA6 2627 HP:0002594 Pancreatic hypoplasia OMIM:600001 GATA6 2627 HP:0000819 Diabetes mellitus OMIM:600001 GATA6 2627 HP:0001660 Truncus arteriosus OMIM:613546 CYP19A1 1588 HP:0001513 Obesity OMIM:613546 CYP19A1 1588 HP:0002857 Genu valgum OMIM:613546 CYP19A1 1588 HP:0005930 Abnormality of epiphysis morphology OMIM:613546 CYP19A1 1588 HP:0000815 Hypergonadotropic hypogonadism OMIM:613546 CYP19A1 1588 HP:0010458 Female pseudohermaphroditism OMIM:613546 CYP19A1 1588 HP:0000786 Primary amenorrhea OMIM:613546 CYP19A1 1588 HP:0000007 Autosomal recessive inheritance OMIM:613546 CYP19A1 1588 HP:0000035 Abnormality of the testis OMIM:613546 CYP19A1 1588 HP:0002750 Delayed skeletal maturation OMIM:613546 CYP19A1 1588 HP:0003782 Eunuchoid habitus OMIM:613546 CYP19A1 1588 HP:0000138 Ovarian cyst OMIM:613546 CYP19A1 1588 HP:0000144 Decreased fertility OMIM:613546 CYP19A1 1588 HP:0001939 Abnormality of metabolism/homeostasis OMIM:613546 CYP19A1 1588 HP:0004349 Reduced bone mineral density OMIM:613546 CYP19A1 1588 HP:0001399 Hepatic failure OMIM:600101 KCNQ4 9132 HP:0000006 Autosomal dominant inheritance OMIM:600101 KCNQ4 9132 HP:0003676 Progressive disorder OMIM:600101 KCNQ4 9132 HP:0000360 Tinnitus OMIM:600101 KCNQ4 9132 HP:0000365 Hearing impairment OMIM:604326 PPP2R2B 5521 HP:0002530 Axial dystonia OMIM:604326 PPP2R2B 5521 HP:0000739 Anxiety OMIM:604326 PPP2R2B 5521 HP:0001347 Hyperreflexia OMIM:604326 PPP2R2B 5521 HP:0000746 Delusions OMIM:604326 PPP2R2B 5521 HP:0001272 Cerebellar atrophy OMIM:604326 PPP2R2B 5521 HP:0002073 Progressive cerebellar ataxia OMIM:604326 PPP2R2B 5521 HP:0000726 Dementia OMIM:604326 PPP2R2B 5521 HP:0001310 Dysmetria OMIM:604326 PPP2R2B 5521 HP:0001300 Parkinsonism OMIM:604326 PPP2R2B 5521 HP:0000496 Abnormality of eye movement OMIM:604326 PPP2R2B 5521 HP:0002345 Action tremor OMIM:604326 PPP2R2B 5521 HP:0000006 Autosomal dominant inheritance OMIM:604326 PPP2R2B 5521 HP:0007141 Sensorimotor neuropathy OMIM:604326 PPP2R2B 5521 HP:0000317 Facial myokymia OMIM:604326 PPP2R2B 5521 HP:0002346 Head tremor OMIM:604326 PPP2R2B 5521 HP:0002075 Dysdiadochokinesis OMIM:604326 PPP2R2B 5521 HP:0000716 Depression OMIM:604326 PPP2R2B 5521 HP:0002120 Cerebral cortical atrophy OMIM:604326 PPP2R2B 5521 HP:0001260 Dysarthria OMIM:616140 RARS 5917 HP:0000639 Nystagmus OMIM:616140 RARS 5917 HP:0001347 Hyperreflexia OMIM:616140 RARS 5917 HP:0000252 Microcephaly OMIM:616140 RARS 5917 HP:0002080 Intention tremor OMIM:616140 RARS 5917 HP:0002415 Leukodystrophy OMIM:616140 RARS 5917 HP:0001260 Dysarthria OMIM:616140 RARS 5917 HP:0002079 Hypoplasia of the corpus callosum OMIM:616140 RARS 5917 HP:0001263 Global developmental delay OMIM:616140 RARS 5917 HP:0002071 Abnormality of extrapyramidal motor function OMIM:616140 RARS 5917 HP:0001310 Dysmetria OMIM:259730 CA2 760 HP:0002135 Basal ganglia calcification OMIM:259730 CA2 760 HP:0004437 Cranial hyperostosis OMIM:259730 CA2 760 HP:0000572 Visual loss OMIM:259730 CA2 760 HP:0001249 Intellectual disability OMIM:259730 CA2 760 HP:0001903 Anemia OMIM:259730 CA2 760 HP:0011002 Osteopetrosis OMIM:259730 CA2 760 HP:0001978 Extramedullary hematopoiesis OMIM:259730 CA2 760 HP:0003034 Diaphyseal sclerosis OMIM:259730 CA2 760 HP:0007807 Optic nerve compression OMIM:259730 CA2 760 HP:0001433 Hepatosplenomegaly OMIM:259730 CA2 760 HP:0008341 Distal renal tubular acidosis OMIM:259730 CA2 760 HP:0003148 Elevated serum acid phosphatase OMIM:259730 CA2 760 HP:0008153 Periodic hypokalemic paresis OMIM:259730 CA2 760 HP:0004322 Short stature OMIM:259730 CA2 760 HP:0000689 Dental malocclusion OMIM:259730 CA2 760 HP:0000007 Autosomal recessive inheritance OMIM:311790 PFKFB1 5207 HP:0001939 Abnormality of metabolism/homeostasis OMIM:311790 PFKFB1 5207 HP:0001417 X-linked inheritance OMIM:116700 GCNT2 2651 HP:0010700 Total cataract OMIM:116700 GCNT2 2651 HP:0000006 Autosomal dominant inheritance OMIM:116700 GCNT2 2651 HP:0000519 Congenital cataract OMIM:615688 CECR1 51816 HP:0002301 Hemiplegia OMIM:615688 CECR1 51816 HP:0001744 Splenomegaly OMIM:615688 CECR1 51816 HP:0000713 Agitation OMIM:615688 CECR1 51816 HP:0002315 Headache OMIM:615688 CECR1 51816 HP:0001251 Ataxia OMIM:615688 CECR1 51816 HP:0000979 Purpura OMIM:615688 CECR1 51816 HP:0004313 Hypogammaglobulinemia OMIM:615688 CECR1 51816 HP:0001882 Leukopenia OMIM:615688 CECR1 51816 HP:0001974 Leukocytosis OMIM:615688 CECR1 51816 HP:0001369 Arthritis OMIM:615688 CECR1 51816 HP:0002910 Elevated hepatic transaminases OMIM:615688 CECR1 51816 HP:0000822 Hypertension OMIM:615688 CECR1 51816 HP:0003326 Myalgia OMIM:615688 CECR1 51816 HP:0001945 Fever OMIM:615688 CECR1 51816 HP:0000602 Ophthalmoplegia OMIM:615688 CECR1 51816 HP:0012490 Panniculitis OMIM:615688 CECR1 51816 HP:0003828 Variable expressivity OMIM:615688 CECR1 51816 HP:0001894 Thrombocytosis OMIM:615688 CECR1 51816 HP:0000007 Autosomal recessive inheritance OMIM:615688 CECR1 51816 HP:0000648 Optic atrophy OMIM:615688 CECR1 51816 HP:0009830 Peripheral neuropathy OMIM:615688 CECR1 51816 HP:0002240 Hepatomegaly OMIM:615688 CECR1 51816 HP:0001903 Anemia OMIM:615688 CECR1 51816 HP:0002617 Aneurysm OMIM:615688 CECR1 51816 HP:0000965 Cutis marmorata OMIM:615688 CECR1 51816 HP:0002721 Immunodeficiency OMIM:615688 CECR1 51816 HP:0012219 Erythema nodosum OMIM:615688 CECR1 51816 HP:0002381 Aphasia OMIM:300659 BRWD3 254065 HP:0011220 Prominent forehead OMIM:300659 BRWD3 254065 HP:0000276 Long face OMIM:300659 BRWD3 254065 HP:0000028 Cryptorchidism OMIM:300659 BRWD3 254065 HP:0001256 Intellectual disability, mild OMIM:300659 BRWD3 254065 HP:0001252 Muscular hypotonia OMIM:300659 BRWD3 254065 HP:0002007 Frontal bossing OMIM:300659 BRWD3 254065 HP:0000750 Delayed speech and language development OMIM:300659 BRWD3 254065 HP:0001763 Pes planus OMIM:300659 BRWD3 254065 HP:0000256 Macrocephaly OMIM:300659 BRWD3 254065 HP:0000378 Cupped ear OMIM:300659 BRWD3 254065 HP:0001419 X-linked recessive inheritance OMIM:300659 BRWD3 254065 HP:0000400 Macrotia OMIM:610445 RHO 6010 HP:0000654 Decreased electroretinogram (ERG) amplitude OMIM:610445 RHO 6010 HP:0007642 Congenital stationary night blindness OMIM:610445 RHO 6010 HP:0001123 Visual field defect OMIM:610445 RHO 6010 HP:0007737 Bony spicule pigmentary retinopathy OMIM:615803 CLP1 10978 HP:0012448 Delayed myelination OMIM:615803 CLP1 10978 HP:0001347 Hyperreflexia OMIM:615803 CLP1 10978 HP:0001510 Growth delay OMIM:615803 CLP1 10978 HP:0001263 Global developmental delay OMIM:615803 CLP1 10978 HP:0000219 Thin upper lip vermilion OMIM:615803 CLP1 10978 HP:0000520 Proptosis OMIM:615803 CLP1 10978 HP:0000430 Underdeveloped nasal alae OMIM:615803 CLP1 10978 HP:0000565 Esotropia OMIM:615803 CLP1 10978 HP:0001257 Spasticity OMIM:615803 CLP1 10978 HP:0003196 Short nose OMIM:615803 CLP1 10978 HP:0000817 Poor eye contact OMIM:615803 CLP1 10978 HP:0002120 Cerebral cortical atrophy OMIM:615803 CLP1 10978 HP:0001298 Encephalopathy OMIM:615803 CLP1 10978 HP:0001344 Absent speech OMIM:615803 CLP1 10978 HP:0000218 High palate OMIM:615803 CLP1 10978 HP:0000639 Nystagmus OMIM:615803 CLP1 10978 HP:0000431 Wide nasal bridge OMIM:615803 CLP1 10978 HP:0002119 Ventriculomegaly OMIM:615803 CLP1 10978 HP:0000637 Long palpebral fissure OMIM:615803 CLP1 10978 HP:0000028 Cryptorchidism OMIM:615803 CLP1 10978 HP:0002079 Hypoplasia of the corpus callosum OMIM:615803 CLP1 10978 HP:0000527 Long eyelashes OMIM:615803 CLP1 10978 HP:0002553 Highly arched eyebrow OMIM:615803 CLP1 10978 HP:0009879 Cortical gyral simplification OMIM:615803 CLP1 10978 HP:0000252 Microcephaly OMIM:615065 ECEL1 9427 HP:0012385 Camptodactyly OMIM:615065 ECEL1 9427 HP:0000347 Micrognathia OMIM:615065 ECEL1 9427 HP:0000221 Furrowed tongue OMIM:615065 ECEL1 9427 HP:0000463 Anteverted nares OMIM:615065 ECEL1 9427 HP:0002804 Arthrogryposis multiplex congenita OMIM:615065 ECEL1 9427 HP:0001181 Adducted thumb OMIM:615065 ECEL1 9427 HP:0002553 Highly arched eyebrow OMIM:615065 ECEL1 9427 HP:0004322 Short stature OMIM:615065 ECEL1 9427 HP:0000470 Short neck OMIM:615065 ECEL1 9427 HP:0001762 Talipes equinovarus OMIM:615065 ECEL1 9427 HP:0001848 Calcaneovalgus deformity OMIM:615065 ECEL1 9427 HP:0000414 Bulbous nose OMIM:615065 ECEL1 9427 HP:0000007 Autosomal recessive inheritance OMIM:615065 ECEL1 9427 HP:0003307 Hyperlordosis OMIM:615065 ECEL1 9427 HP:0002987 Elbow flexion contracture OMIM:615065 ECEL1 9427 HP:0000059 Hypoplastic labia majora OMIM:615065 ECEL1 9427 HP:0000175 Cleft palate OMIM:615065 ECEL1 9427 HP:0000311 Round face OMIM:615887 SLC24A4 123041 HP:0000705 Amelogenesis imperfecta OMIM:615887 SLC24A4 123041 HP:0000670 Carious teeth OMIM:601718 ABCA4 24 HP:0000980 Pallor OMIM:601718 ABCA4 24 HP:0000510 Retinitis pigmentosa OMIM:601718 ABCA4 24 HP:0007737 Bony spicule pigmentary retinopathy OMIM:601718 ABCA4 24 HP:0007980 Absent retinal pigment epithelium OMIM:601718 ABCA4 24 HP:0007843 Attenuation of retinal blood vessels OMIM:609528 SNAP29 9342 HP:0000407 Sensorineural hearing impairment OMIM:609528 SNAP29 9342 HP:0006887 Intellectual disability, progressive OMIM:609528 SNAP29 9342 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:609528 SNAP29 9342 HP:0000457 Depressed nasal ridge OMIM:609528 SNAP29 9342 HP:0005280 Depressed nasal bridge OMIM:609528 SNAP29 9342 HP:0000276 Long face OMIM:609528 SNAP29 9342 HP:0001697 Abnormality of the pericardium OMIM:609528 SNAP29 9342 HP:0000268 Dolichocephaly OMIM:609528 SNAP29 9342 HP:0000496 Abnormality of eye movement OMIM:609528 SNAP29 9342 HP:0001639 Hypertrophic cardiomyopathy OMIM:609528 SNAP29 9342 HP:0000648 Optic atrophy OMIM:609528 SNAP29 9342 HP:0000316 Hypertelorism OMIM:609528 SNAP29 9342 HP:0001252 Muscular hypotonia OMIM:609528 SNAP29 9342 HP:0002269 Abnormality of neuronal migration OMIM:609528 SNAP29 9342 HP:0100543 Cognitive impairment OMIM:609528 SNAP29 9342 HP:0000494 Downslanted palpebral fissures OMIM:609528 SNAP29 9342 HP:0010864 Intellectual disability, severe OMIM:609528 SNAP29 9342 HP:0000007 Autosomal recessive inheritance OMIM:609528 SNAP29 9342 HP:0008064 Ichthyosis OMIM:609528 SNAP29 9342 HP:0000762 Decreased nerve conduction velocity OMIM:609528 SNAP29 9342 HP:0000253 Progressive microcephaly OMIM:609528 SNAP29 9342 HP:0002637 Cerebral ischemia OMIM:609528 SNAP29 9342 HP:0003593 Infantile onset OMIM:609528 SNAP29 9342 HP:0002539 Cortical dysplasia OMIM:609528 SNAP29 9342 HP:0001302 Pachygyria OMIM:609528 SNAP29 9342 HP:0002126 Polymicrogyria OMIM:609528 SNAP29 9342 HP:0000400 Macrotia OMIM:609528 SNAP29 9342 HP:0001635 Congestive heart failure OMIM:609528 SNAP29 9342 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature OMIM:609528 SNAP29 9342 HP:0007766 Optic disc hypoplasia OMIM:609528 SNAP29 9342 HP:0000078 Abnormality of the genital system OMIM:609528 SNAP29 9342 HP:0004322 Short stature OMIM:609528 SNAP29 9342 HP:0009830 Peripheral neuropathy OMIM:609528 SNAP29 9342 HP:0000982 Palmoplantar keratoderma OMIM:609528 SNAP29 9342 HP:0002311 Incoordination OMIM:609528 SNAP29 9342 HP:0001271 Polyneuropathy OMIM:609528 SNAP29 9342 HP:0001284 Areflexia OMIM:609528 SNAP29 9342 HP:0002239 Gastrointestinal hemorrhage OMIM:609528 SNAP29 9342 HP:0000100 Nephrotic syndrome OMIM:609528 SNAP29 9342 HP:0000093 Proteinuria OMIM:609528 SNAP29 9342 HP:0002421 Poor head control OMIM:609528 SNAP29 9342 HP:0000164 Abnormality of the teeth OMIM:609528 SNAP29 9342 HP:0000252 Microcephaly OMIM:609528 SNAP29 9342 HP:0001273 Abnormality of the corpus callosum OMIM:609528 SNAP29 9342 HP:0001250 Seizures OMIM:609528 SNAP29 9342 HP:0001263 Global developmental delay OMIM:609528 SNAP29 9342 HP:0001508 Failure to thrive OMIM:609528 SNAP29 9342 HP:0001315 Reduced tendon reflexes OMIM:609528 SNAP29 9342 HP:0000431 Wide nasal bridge OMIM:609528 SNAP29 9342 HP:0000426 Prominent nasal bridge OMIM:219000 FRAS1 80144 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:219000 FRAS1 80144 HP:0000777 Abnormality of the thymus OMIM:219000 FRAS1 80144 HP:0000369 Low-set ears OMIM:219000 FRAS1 80144 HP:0007993 Malformed lacrimal ducts OMIM:219000 FRAS1 80144 HP:0000007 Autosomal recessive inheritance OMIM:219000 FRAS1 80144 HP:0007633 Bilateral microphthalmos OMIM:219000 FRAS1 80144 HP:0000046 Scrotal hypoplasia OMIM:219000 FRAS1 80144 HP:0000430 Underdeveloped nasal alae OMIM:219000 FRAS1 80144 HP:0000431 Wide nasal bridge OMIM:219000 FRAS1 80144 HP:0000528 Anophthalmia OMIM:219000 FRAS1 80144 HP:0001600 Abnormality of the larynx OMIM:219000 FRAS1 80144 HP:0100543 Cognitive impairment OMIM:219000 FRAS1 80144 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:219000 FRAS1 80144 HP:0000405 Conductive hearing impairment OMIM:219000 FRAS1 80144 HP:0000678 Dental crowding OMIM:219000 FRAS1 80144 HP:0000054 Micropenis OMIM:219000 FRAS1 80144 HP:0000316 Hypertelorism OMIM:219000 FRAS1 80144 HP:0004122 Midline defect of the nose OMIM:219000 FRAS1 80144 HP:0000057 Clitoromegaly OMIM:219000 FRAS1 80144 HP:0005352 Severe T-cell immunodeficiency OMIM:219000 FRAS1 80144 HP:0001249 Intellectual disability OMIM:219000 FRAS1 80144 HP:0001770 Toe syndactyly OMIM:219000 FRAS1 80144 HP:0007957 Corneal opacity OMIM:219000 FRAS1 80144 HP:0005325 Extension of hair growth on temples to lateral eyebrow OMIM:219000 FRAS1 80144 HP:0002101 Abnormal lung lobation OMIM:219000 FRAS1 80144 HP:0006101 Finger syndactyly OMIM:219000 FRAS1 80144 HP:0000204 Cleft upper lip OMIM:219000 FRAS1 80144 HP:0000378 Cupped ear OMIM:219000 FRAS1 80144 HP:0010458 Female pseudohermaphroditism OMIM:219000 FRAS1 80144 HP:0000413 Atresia of the external auditory canal OMIM:219000 FRAS1 80144 HP:0000062 Ambiguous genitalia OMIM:219000 FRAS1 80144 HP:0008559 Hypoplastic superior helix OMIM:219000 FRAS1 80144 HP:0002084 Encephalocele OMIM:219000 FRAS1 80144 HP:0005280 Depressed nasal bridge OMIM:219000 FRAS1 80144 HP:0000238 Hydrocephalus OMIM:219000 FRAS1 80144 HP:0003183 Wide pubic symphysis OMIM:219000 FRAS1 80144 HP:0000252 Microcephaly OMIM:219000 FRAS1 80144 HP:0000813 Bicornuate uterus OMIM:219000 FRAS1 80144 HP:0000445 Wide nose OMIM:219000 FRAS1 80144 HP:0001551 Abnormality of the umbilicus OMIM:219000 FRAS1 80144 HP:0002475 Myelomeningocele OMIM:219000 FRAS1 80144 HP:0000368 Low-set, posteriorly rotated ears OMIM:219000 FRAS1 80144 HP:0100589 Urogenital fistula OMIM:219000 FRAS1 80144 HP:0003191 Cleft ala nasi OMIM:219000 FRAS1 80144 HP:0004397 Ectopic anus OMIM:219000 FRAS1 80144 HP:0000175 Cleft palate OMIM:219000 FRAS1 80144 HP:0002089 Pulmonary hypoplasia OMIM:219000 FRAS1 80144 HP:0003422 Vertebral segmentation defect OMIM:219000 FRAS1 80144 HP:0000632 Lacrimation abnormality OMIM:219000 FRAS1 80144 HP:0000452 Choanal stenosis OMIM:219000 FRAS1 80144 HP:0000148 Vaginal atresia OMIM:219000 FRAS1 80144 HP:0000089 Renal hypoplasia OMIM:219000 FRAS1 80144 HP:0008678 Renal hypoplasia/aplasia OMIM:219000 FRAS1 80144 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:219000 FRAS1 80144 HP:0008750 Laryngeal atresia OMIM:219000 FRAS1 80144 HP:0000028 Cryptorchidism OMIM:219000 FRAS1 80144 HP:0000377 Abnormality of the pinna OMIM:219000 FRAS1 80144 HP:0000164 Abnormality of the teeth OMIM:219000 FRAS1 80144 HP:0001539 Omphalocele OMIM:219000 FRAS1 80144 HP:0002777 Tracheal stenosis OMIM:219000 FRAS1 80144 HP:0002223 Absent eyebrow OMIM:219000 FRAS1 80144 HP:0004378 Abnormality of the anus OMIM:219000 FRAS1 80144 HP:0002244 Abnormality of the small intestine OMIM:219000 FRAS1 80144 HP:0000174 Abnormality of the palate OMIM:219000 FRAS1 80144 HP:0007925 Lacrimal duct aplasia OMIM:219000 FRAS1 80144 HP:0010297 Bifid tongue OMIM:219000 FRAS1 80144 HP:0005950 Laryngeal web OMIM:219000 FRAS1 80144 HP:0001627 Abnormality of cardiac morphology OMIM:219000 FRAS1 80144 HP:0000183 Difficulty in tongue movements OMIM:219000 FRAS1 80144 HP:0002006 Facial cleft OMIM:219000 FRAS1 80144 HP:0002564 Malformation of the heart and great vessels OMIM:219000 FRAS1 80144 HP:0000142 Abnormality of the vagina OMIM:219000 FRAS1 80144 HP:0000689 Dental malocclusion OMIM:219000 FRAS1 80144 HP:0000003 Multicystic kidney dysplasia OMIM:219000 FRAS1 80144 HP:0000618 Blindness OMIM:219000 FRAS1 80144 HP:0004112 Midline nasal groove OMIM:219000 FRAS1 80144 HP:0001126 Cryptophthalmos OMIM:219000 FRAS1 80144 HP:0002536 Abnormal cortical gyration OMIM:219000 FRAS1 80144 HP:0006714 Aplasia/Hypoplasia of the sternum OMIM:219000 FRAS1 80144 HP:0009767 Aplasia/Hypoplasia of the phalanges of the hand OMIM:219000 FRAS1 80144 HP:0001602 Laryngeal stenosis OMIM:219000 FRAS1 80144 HP:0100627 Displacement of the external urethral meatus OMIM:219000 FRAS1 80144 HP:0010554 Cutaneous finger syndactyly OMIM:219000 FRAS1 80144 HP:0001362 Skull defect OMIM:219000 FRAS1 80144 HP:0001607 Subglottic stenosis OMIM:219000 FRAS1 80144 HP:0000561 Absent eyelashes OMIM:219000 FRAS1 80144 HP:0006610 Wide intermamillary distance OMIM:219000 FRAS1 80144 HP:0008050 Abnormality of the palpebral fissures OMIM:219000 FRAS1 80144 HP:0000636 Upper eyelid coloboma OMIM:219000 FRAS1 80144 HP:0008736 Hypoplasia of penis OMIM:219000 FRAS1 80144 HP:0000505 Visual impairment OMIM:219000 FRAS1 80144 HP:0001537 Umbilical hernia OMIM:219000 FRAS1 80144 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:219000 FRAS1 80144 HP:0000047 Hypospadias OMIM:219000 FRAS1 80144 HP:0004404 Abnormality of the nipple OMIM:219000 FRAS1 80144 HP:0008609 Morphological abnormality of the middle ear OMIM:219000 GRIP1 23426 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:219000 GRIP1 23426 HP:0000777 Abnormality of the thymus OMIM:219000 GRIP1 23426 HP:0000369 Low-set ears OMIM:219000 GRIP1 23426 HP:0007993 Malformed lacrimal ducts OMIM:219000 GRIP1 23426 HP:0000007 Autosomal recessive inheritance OMIM:219000 GRIP1 23426 HP:0007633 Bilateral microphthalmos OMIM:219000 GRIP1 23426 HP:0000046 Scrotal hypoplasia OMIM:219000 GRIP1 23426 HP:0000430 Underdeveloped nasal alae OMIM:219000 GRIP1 23426 HP:0000431 Wide nasal bridge OMIM:219000 GRIP1 23426 HP:0000528 Anophthalmia OMIM:219000 GRIP1 23426 HP:0001600 Abnormality of the larynx OMIM:219000 GRIP1 23426 HP:0100543 Cognitive impairment OMIM:219000 GRIP1 23426 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:219000 GRIP1 23426 HP:0000405 Conductive hearing impairment OMIM:219000 GRIP1 23426 HP:0000678 Dental crowding OMIM:219000 GRIP1 23426 HP:0000054 Micropenis OMIM:219000 GRIP1 23426 HP:0000316 Hypertelorism OMIM:219000 GRIP1 23426 HP:0004122 Midline defect of the nose OMIM:219000 GRIP1 23426 HP:0000057 Clitoromegaly OMIM:219000 GRIP1 23426 HP:0005352 Severe T-cell immunodeficiency OMIM:219000 GRIP1 23426 HP:0001249 Intellectual disability OMIM:219000 GRIP1 23426 HP:0001770 Toe syndactyly OMIM:219000 GRIP1 23426 HP:0007957 Corneal opacity OMIM:219000 GRIP1 23426 HP:0005325 Extension of hair growth on temples to lateral eyebrow OMIM:219000 GRIP1 23426 HP:0002101 Abnormal lung lobation OMIM:219000 GRIP1 23426 HP:0006101 Finger syndactyly OMIM:219000 GRIP1 23426 HP:0000204 Cleft upper lip OMIM:219000 GRIP1 23426 HP:0000378 Cupped ear OMIM:219000 GRIP1 23426 HP:0010458 Female pseudohermaphroditism OMIM:219000 GRIP1 23426 HP:0000413 Atresia of the external auditory canal OMIM:219000 GRIP1 23426 HP:0000062 Ambiguous genitalia OMIM:219000 GRIP1 23426 HP:0008559 Hypoplastic superior helix OMIM:219000 GRIP1 23426 HP:0002084 Encephalocele OMIM:219000 GRIP1 23426 HP:0005280 Depressed nasal bridge OMIM:219000 GRIP1 23426 HP:0000238 Hydrocephalus OMIM:219000 GRIP1 23426 HP:0003183 Wide pubic symphysis OMIM:219000 GRIP1 23426 HP:0000252 Microcephaly OMIM:219000 GRIP1 23426 HP:0000813 Bicornuate uterus OMIM:219000 GRIP1 23426 HP:0000445 Wide nose OMIM:219000 GRIP1 23426 HP:0001551 Abnormality of the umbilicus OMIM:219000 GRIP1 23426 HP:0002475 Myelomeningocele OMIM:219000 GRIP1 23426 HP:0000368 Low-set, posteriorly rotated ears OMIM:219000 GRIP1 23426 HP:0100589 Urogenital fistula OMIM:219000 GRIP1 23426 HP:0003191 Cleft ala nasi OMIM:219000 GRIP1 23426 HP:0004397 Ectopic anus OMIM:219000 GRIP1 23426 HP:0000175 Cleft palate OMIM:219000 GRIP1 23426 HP:0002089 Pulmonary hypoplasia OMIM:219000 GRIP1 23426 HP:0003422 Vertebral segmentation defect OMIM:219000 GRIP1 23426 HP:0000632 Lacrimation abnormality OMIM:219000 GRIP1 23426 HP:0000452 Choanal stenosis OMIM:219000 GRIP1 23426 HP:0000148 Vaginal atresia OMIM:219000 GRIP1 23426 HP:0000089 Renal hypoplasia OMIM:219000 GRIP1 23426 HP:0008678 Renal hypoplasia/aplasia OMIM:219000 GRIP1 23426 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:219000 GRIP1 23426 HP:0008750 Laryngeal atresia OMIM:219000 GRIP1 23426 HP:0000028 Cryptorchidism OMIM:219000 GRIP1 23426 HP:0000377 Abnormality of the pinna OMIM:219000 GRIP1 23426 HP:0000164 Abnormality of the teeth OMIM:219000 GRIP1 23426 HP:0001539 Omphalocele OMIM:219000 GRIP1 23426 HP:0002777 Tracheal stenosis OMIM:219000 GRIP1 23426 HP:0002223 Absent eyebrow OMIM:219000 GRIP1 23426 HP:0004378 Abnormality of the anus OMIM:219000 GRIP1 23426 HP:0002244 Abnormality of the small intestine OMIM:219000 GRIP1 23426 HP:0000174 Abnormality of the palate OMIM:219000 GRIP1 23426 HP:0007925 Lacrimal duct aplasia OMIM:219000 GRIP1 23426 HP:0010297 Bifid tongue OMIM:219000 GRIP1 23426 HP:0005950 Laryngeal web OMIM:219000 GRIP1 23426 HP:0001627 Abnormality of cardiac morphology OMIM:219000 GRIP1 23426 HP:0000183 Difficulty in tongue movements OMIM:219000 GRIP1 23426 HP:0002006 Facial cleft OMIM:219000 GRIP1 23426 HP:0002564 Malformation of the heart and great vessels OMIM:219000 GRIP1 23426 HP:0000142 Abnormality of the vagina OMIM:219000 GRIP1 23426 HP:0000689 Dental malocclusion OMIM:219000 GRIP1 23426 HP:0000003 Multicystic kidney dysplasia OMIM:219000 GRIP1 23426 HP:0000618 Blindness OMIM:219000 GRIP1 23426 HP:0004112 Midline nasal groove OMIM:219000 GRIP1 23426 HP:0001126 Cryptophthalmos OMIM:219000 GRIP1 23426 HP:0002536 Abnormal cortical gyration OMIM:219000 GRIP1 23426 HP:0006714 Aplasia/Hypoplasia of the sternum OMIM:219000 GRIP1 23426 HP:0009767 Aplasia/Hypoplasia of the phalanges of the hand OMIM:219000 GRIP1 23426 HP:0001602 Laryngeal stenosis OMIM:219000 GRIP1 23426 HP:0100627 Displacement of the external urethral meatus OMIM:219000 GRIP1 23426 HP:0010554 Cutaneous finger syndactyly OMIM:219000 GRIP1 23426 HP:0001362 Skull defect OMIM:219000 GRIP1 23426 HP:0001607 Subglottic stenosis OMIM:219000 GRIP1 23426 HP:0000561 Absent eyelashes OMIM:219000 GRIP1 23426 HP:0006610 Wide intermamillary distance OMIM:219000 GRIP1 23426 HP:0008050 Abnormality of the palpebral fissures OMIM:219000 GRIP1 23426 HP:0000636 Upper eyelid coloboma OMIM:219000 GRIP1 23426 HP:0008736 Hypoplasia of penis OMIM:219000 GRIP1 23426 HP:0000505 Visual impairment OMIM:219000 GRIP1 23426 HP:0001537 Umbilical hernia OMIM:219000 GRIP1 23426 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:219000 GRIP1 23426 HP:0000047 Hypospadias OMIM:219000 GRIP1 23426 HP:0004404 Abnormality of the nipple OMIM:219000 GRIP1 23426 HP:0008609 Morphological abnormality of the middle ear OMIM:219000 FREM2 341640 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:219000 FREM2 341640 HP:0000777 Abnormality of the thymus OMIM:219000 FREM2 341640 HP:0000369 Low-set ears OMIM:219000 FREM2 341640 HP:0007993 Malformed lacrimal ducts OMIM:219000 FREM2 341640 HP:0000007 Autosomal recessive inheritance OMIM:219000 FREM2 341640 HP:0007633 Bilateral microphthalmos OMIM:219000 FREM2 341640 HP:0000046 Scrotal hypoplasia OMIM:219000 FREM2 341640 HP:0000430 Underdeveloped nasal alae OMIM:219000 FREM2 341640 HP:0000431 Wide nasal bridge OMIM:219000 FREM2 341640 HP:0000528 Anophthalmia OMIM:219000 FREM2 341640 HP:0001600 Abnormality of the larynx OMIM:219000 FREM2 341640 HP:0100543 Cognitive impairment OMIM:219000 FREM2 341640 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:219000 FREM2 341640 HP:0000405 Conductive hearing impairment OMIM:219000 FREM2 341640 HP:0000678 Dental crowding OMIM:219000 FREM2 341640 HP:0000054 Micropenis OMIM:219000 FREM2 341640 HP:0000316 Hypertelorism OMIM:219000 FREM2 341640 HP:0004122 Midline defect of the nose OMIM:219000 FREM2 341640 HP:0000057 Clitoromegaly OMIM:219000 FREM2 341640 HP:0005352 Severe T-cell immunodeficiency OMIM:219000 FREM2 341640 HP:0001249 Intellectual disability OMIM:219000 FREM2 341640 HP:0001770 Toe syndactyly OMIM:219000 FREM2 341640 HP:0007957 Corneal opacity OMIM:219000 FREM2 341640 HP:0005325 Extension of hair growth on temples to lateral eyebrow OMIM:219000 FREM2 341640 HP:0002101 Abnormal lung lobation OMIM:219000 FREM2 341640 HP:0006101 Finger syndactyly OMIM:219000 FREM2 341640 HP:0000204 Cleft upper lip OMIM:219000 FREM2 341640 HP:0000378 Cupped ear OMIM:219000 FREM2 341640 HP:0010458 Female pseudohermaphroditism OMIM:219000 FREM2 341640 HP:0000413 Atresia of the external auditory canal OMIM:219000 FREM2 341640 HP:0000062 Ambiguous genitalia OMIM:219000 FREM2 341640 HP:0008559 Hypoplastic superior helix OMIM:219000 FREM2 341640 HP:0002084 Encephalocele OMIM:219000 FREM2 341640 HP:0005280 Depressed nasal bridge OMIM:219000 FREM2 341640 HP:0000238 Hydrocephalus OMIM:219000 FREM2 341640 HP:0003183 Wide pubic symphysis OMIM:219000 FREM2 341640 HP:0000252 Microcephaly OMIM:219000 FREM2 341640 HP:0000813 Bicornuate uterus OMIM:219000 FREM2 341640 HP:0000445 Wide nose OMIM:219000 FREM2 341640 HP:0001551 Abnormality of the umbilicus OMIM:219000 FREM2 341640 HP:0002475 Myelomeningocele OMIM:219000 FREM2 341640 HP:0000368 Low-set, posteriorly rotated ears OMIM:219000 FREM2 341640 HP:0100589 Urogenital fistula OMIM:219000 FREM2 341640 HP:0003191 Cleft ala nasi OMIM:219000 FREM2 341640 HP:0004397 Ectopic anus OMIM:219000 FREM2 341640 HP:0000175 Cleft palate OMIM:219000 FREM2 341640 HP:0002089 Pulmonary hypoplasia OMIM:219000 FREM2 341640 HP:0003422 Vertebral segmentation defect OMIM:219000 FREM2 341640 HP:0000632 Lacrimation abnormality OMIM:219000 FREM2 341640 HP:0000452 Choanal stenosis OMIM:219000 FREM2 341640 HP:0000148 Vaginal atresia OMIM:219000 FREM2 341640 HP:0000089 Renal hypoplasia OMIM:219000 FREM2 341640 HP:0008678 Renal hypoplasia/aplasia OMIM:219000 FREM2 341640 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:219000 FREM2 341640 HP:0008750 Laryngeal atresia OMIM:219000 FREM2 341640 HP:0000028 Cryptorchidism OMIM:219000 FREM2 341640 HP:0000377 Abnormality of the pinna OMIM:219000 FREM2 341640 HP:0000164 Abnormality of the teeth OMIM:219000 FREM2 341640 HP:0001539 Omphalocele OMIM:219000 FREM2 341640 HP:0002777 Tracheal stenosis OMIM:219000 FREM2 341640 HP:0002223 Absent eyebrow OMIM:219000 FREM2 341640 HP:0004378 Abnormality of the anus OMIM:219000 FREM2 341640 HP:0002244 Abnormality of the small intestine OMIM:219000 FREM2 341640 HP:0000174 Abnormality of the palate OMIM:219000 FREM2 341640 HP:0007925 Lacrimal duct aplasia OMIM:219000 FREM2 341640 HP:0010297 Bifid tongue OMIM:219000 FREM2 341640 HP:0005950 Laryngeal web OMIM:219000 FREM2 341640 HP:0001627 Abnormality of cardiac morphology OMIM:219000 FREM2 341640 HP:0000183 Difficulty in tongue movements OMIM:219000 FREM2 341640 HP:0002006 Facial cleft OMIM:219000 FREM2 341640 HP:0002564 Malformation of the heart and great vessels OMIM:219000 FREM2 341640 HP:0000142 Abnormality of the vagina OMIM:219000 FREM2 341640 HP:0000689 Dental malocclusion OMIM:219000 FREM2 341640 HP:0000003 Multicystic kidney dysplasia OMIM:219000 FREM2 341640 HP:0000618 Blindness OMIM:219000 FREM2 341640 HP:0004112 Midline nasal groove OMIM:219000 FREM2 341640 HP:0001126 Cryptophthalmos OMIM:219000 FREM2 341640 HP:0002536 Abnormal cortical gyration OMIM:219000 FREM2 341640 HP:0006714 Aplasia/Hypoplasia of the sternum OMIM:219000 FREM2 341640 HP:0009767 Aplasia/Hypoplasia of the phalanges of the hand OMIM:219000 FREM2 341640 HP:0001602 Laryngeal stenosis OMIM:219000 FREM2 341640 HP:0100627 Displacement of the external urethral meatus OMIM:219000 FREM2 341640 HP:0010554 Cutaneous finger syndactyly OMIM:219000 FREM2 341640 HP:0001362 Skull defect OMIM:219000 FREM2 341640 HP:0001607 Subglottic stenosis OMIM:219000 FREM2 341640 HP:0000561 Absent eyelashes OMIM:219000 FREM2 341640 HP:0006610 Wide intermamillary distance OMIM:219000 FREM2 341640 HP:0008050 Abnormality of the palpebral fissures OMIM:219000 FREM2 341640 HP:0000636 Upper eyelid coloboma OMIM:219000 FREM2 341640 HP:0008736 Hypoplasia of penis OMIM:219000 FREM2 341640 HP:0000505 Visual impairment OMIM:219000 FREM2 341640 HP:0001537 Umbilical hernia OMIM:219000 FREM2 341640 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:219000 FREM2 341640 HP:0000047 Hypospadias OMIM:219000 FREM2 341640 HP:0004404 Abnormality of the nipple OMIM:219000 FREM2 341640 HP:0008609 Morphological abnormality of the middle ear OMIM:311070 PRPS1 5631 HP:0002522 Areflexia of lower limbs OMIM:311070 PRPS1 5631 HP:0000762 Decreased nerve conduction velocity OMIM:311070 PRPS1 5631 HP:0001337 Tremor OMIM:311070 PRPS1 5631 HP:0000365 Hearing impairment OMIM:311070 PRPS1 5631 HP:0002650 Scoliosis OMIM:311070 PRPS1 5631 HP:0001288 Gait disturbance OMIM:311070 PRPS1 5631 HP:0000648 Optic atrophy OMIM:311070 PRPS1 5631 HP:0001761 Pes cavus OMIM:311070 PRPS1 5631 HP:0004372 Reduced consciousness/confusion OMIM:311070 PRPS1 5631 HP:0007328 Impaired pain sensation OMIM:311070 PRPS1 5631 HP:0000529 Progressive visual loss OMIM:311070 PRPS1 5631 HP:0000407 Sensorineural hearing impairment OMIM:311070 PRPS1 5631 HP:0001419 X-linked recessive inheritance OMIM:311070 PRPS1 5631 HP:0002167 Neurological speech impairment OMIM:311070 PRPS1 5631 HP:0003481 Segmental peripheral demyelination/remyelination OMIM:311070 PRPS1 5631 HP:0002808 Kyphosis OMIM:311070 PRPS1 5631 HP:0001315 Reduced tendon reflexes OMIM:311070 PRPS1 5631 HP:0001270 Motor delay OMIM:311070 PRPS1 5631 HP:0011463 Childhood onset OMIM:311070 PRPS1 5631 HP:0004374 Hemiplegia/hemiparesis OMIM:311070 PRPS1 5631 HP:0002460 Distal muscle weakness OMIM:311070 PRPS1 5631 HP:0002311 Incoordination OMIM:311070 PRPS1 5631 HP:0002936 Distal sensory impairment OMIM:311070 PRPS1 5631 HP:0003383 Onion bulb formation OMIM:311070 PRPS1 5631 HP:0003693 Distal amyotrophy ORPHANET:963 GPR101 83550 HP:0001061 Acne ORPHANET:963 GPR101 83550 HP:0100021 Cerebral palsy ORPHANET:963 GPR101 83550 HP:0000164 Abnormality of the teeth ORPHANET:963 GPR101 83550 HP:0002007 Frontal bossing ORPHANET:963 GPR101 83550 HP:0000664 Synophrys ORPHANET:963 GPR101 83550 HP:0000956 Acanthosis nigricans ORPHANET:963 GPR101 83550 HP:0000819 Diabetes mellitus ORPHANET:963 GPR101 83550 HP:0100540 Palpebral edema ORPHANET:963 GPR101 83550 HP:0000157 Abnormality of the tongue ORPHANET:963 GPR101 83550 HP:0000975 Hyperhidrosis ORPHANET:963 GPR101 83550 HP:0002076 Migraine ORPHANET:963 GPR101 83550 HP:0100568 Neoplasm of the endocrine system ORPHANET:963 GPR101 83550 HP:0000822 Hypertension ORPHANET:963 GPR101 83550 HP:0001633 Abnormality of the mitral valve ORPHANET:963 GPR101 83550 HP:0002808 Kyphosis ORPHANET:963 GPR101 83550 HP:0001869 Deep plantar creases ORPHANET:963 GPR101 83550 HP:0001608 Abnormality of the voice ORPHANET:963 GPR101 83550 HP:0002758 Osteoarthritis ORPHANET:963 GPR101 83550 HP:0001386 Joint swelling ORPHANET:963 GPR101 83550 HP:0100639 Erectile abnormalities ORPHANET:963 GPR101 83550 HP:0003416 Spinal canal stenosis ORPHANET:963 GPR101 83550 HP:0000337 Broad forehead ORPHANET:963 GPR101 83550 HP:0100829 Galactorrhea ORPHANET:963 GPR101 83550 HP:0100746 Macrodactyly of finger ORPHANET:963 GPR101 83550 HP:0000366 Abnormality of the nose ORPHANET:963 GPR101 83550 HP:0008388 Abnormality of the toenails ORPHANET:963 GPR101 83550 HP:0000179 Thick lower lip vermilion ORPHANET:963 GPR101 83550 HP:0000293 Full cheeks ORPHANET:963 GPR101 83550 HP:0004372 Reduced consciousness/confusion ORPHANET:963 GPR101 83550 HP:0003401 Paresthesia ORPHANET:963 GPR101 83550 HP:0000140 Abnormality of the menstrual cycle ORPHANET:963 GPR101 83550 HP:0000303 Mandibular prognathia ORPHANET:963 GPR101 83550 HP:0002104 Apnea ORPHANET:963 GPR101 83550 HP:0001231 Abnormality of the fingernails ORPHANET:963 GPR101 83550 HP:0001769 Broad foot ORPHANET:963 GPR101 83550 HP:0000830 Anterior hypopituitarism ORPHANET:963 GPR101 83550 HP:0012211 Abnormal renal physiology ORPHANET:963 GPR101 83550 HP:0002829 Arthralgia ORPHANET:963 GPR101 83550 HP:0000080 Abnormality of reproductive system physiology ORPHANET:963 GPR101 83550 HP:0007440 Generalized hyperpigmentation ORPHANET:963 GPR101 83550 HP:0000708 Behavioral abnormality ORPHANET:963 GPR101 83550 HP:0000098 Tall stature ORPHANET:963 GPR101 83550 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:963 GPR101 83550 HP:0006191 Deep palmar crease ORPHANET:963 GPR101 83550 HP:0000280 Coarse facial features ORPHANET:963 AIP 9049 HP:0001061 Acne ORPHANET:963 AIP 9049 HP:0100021 Cerebral palsy ORPHANET:963 AIP 9049 HP:0000164 Abnormality of the teeth ORPHANET:963 AIP 9049 HP:0002007 Frontal bossing ORPHANET:963 AIP 9049 HP:0000664 Synophrys ORPHANET:963 AIP 9049 HP:0000956 Acanthosis nigricans ORPHANET:963 AIP 9049 HP:0000819 Diabetes mellitus ORPHANET:963 AIP 9049 HP:0100540 Palpebral edema ORPHANET:963 AIP 9049 HP:0000157 Abnormality of the tongue ORPHANET:963 AIP 9049 HP:0000975 Hyperhidrosis ORPHANET:963 AIP 9049 HP:0002076 Migraine ORPHANET:963 AIP 9049 HP:0100568 Neoplasm of the endocrine system ORPHANET:963 AIP 9049 HP:0000822 Hypertension ORPHANET:963 AIP 9049 HP:0001633 Abnormality of the mitral valve ORPHANET:963 AIP 9049 HP:0002808 Kyphosis ORPHANET:963 AIP 9049 HP:0001869 Deep plantar creases ORPHANET:963 AIP 9049 HP:0001608 Abnormality of the voice ORPHANET:963 AIP 9049 HP:0002758 Osteoarthritis ORPHANET:963 AIP 9049 HP:0001386 Joint swelling ORPHANET:963 AIP 9049 HP:0100639 Erectile abnormalities ORPHANET:963 AIP 9049 HP:0003416 Spinal canal stenosis ORPHANET:963 AIP 9049 HP:0000337 Broad forehead ORPHANET:963 AIP 9049 HP:0100829 Galactorrhea ORPHANET:963 AIP 9049 HP:0100746 Macrodactyly of finger ORPHANET:963 AIP 9049 HP:0000366 Abnormality of the nose ORPHANET:963 AIP 9049 HP:0008388 Abnormality of the toenails ORPHANET:963 AIP 9049 HP:0000179 Thick lower lip vermilion ORPHANET:963 AIP 9049 HP:0000293 Full cheeks ORPHANET:963 AIP 9049 HP:0004372 Reduced consciousness/confusion ORPHANET:963 AIP 9049 HP:0003401 Paresthesia ORPHANET:963 AIP 9049 HP:0000140 Abnormality of the menstrual cycle ORPHANET:963 AIP 9049 HP:0000303 Mandibular prognathia ORPHANET:963 AIP 9049 HP:0002104 Apnea ORPHANET:963 AIP 9049 HP:0001231 Abnormality of the fingernails ORPHANET:963 AIP 9049 HP:0001769 Broad foot ORPHANET:963 AIP 9049 HP:0000830 Anterior hypopituitarism ORPHANET:963 AIP 9049 HP:0012211 Abnormal renal physiology ORPHANET:963 AIP 9049 HP:0002829 Arthralgia ORPHANET:963 AIP 9049 HP:0000080 Abnormality of reproductive system physiology ORPHANET:963 AIP 9049 HP:0007440 Generalized hyperpigmentation ORPHANET:963 AIP 9049 HP:0000708 Behavioral abnormality ORPHANET:963 AIP 9049 HP:0000098 Tall stature ORPHANET:963 AIP 9049 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:963 AIP 9049 HP:0006191 Deep palmar crease ORPHANET:963 AIP 9049 HP:0000280 Coarse facial features OMIM:148210 GJB2 2706 HP:0001128 Trichiasis OMIM:148210 GJB2 2706 HP:0000407 Sensorineural hearing impairment OMIM:148210 GJB2 2706 HP:0011492 Abnormality of corneal stroma OMIM:148210 GJB2 2706 HP:0002745 Oral leukoplakia OMIM:148210 GJB2 2706 HP:0000006 Autosomal dominant inheritance OMIM:148210 GJB2 2706 HP:0000559 Corneal scarring OMIM:148210 GJB2 2706 HP:0008064 Ichthyosis OMIM:148210 GJB2 2706 HP:0000653 Sparse eyelashes OMIM:148210 GJB2 2706 HP:0008404 Nail dystrophy OMIM:148210 GJB2 2706 HP:0001097 Keratoconjunctivitis sicca OMIM:148210 GJB2 2706 HP:0000613 Photophobia OMIM:148210 GJB2 2706 HP:0005406 Recurrent bacterial skin infections OMIM:148210 GJB2 2706 HP:0012804 Corneal ulceration OMIM:148210 GJB2 2706 HP:0002987 Elbow flexion contracture OMIM:148210 GJB2 2706 HP:0002860 Squamous cell carcinoma OMIM:148210 GJB2 2706 HP:0000221 Furrowed tongue OMIM:148210 GJB2 2706 HP:0002164 Nail dysplasia OMIM:148210 GJB2 2706 HP:0000495 Recurrent corneal erosions OMIM:148210 GJB2 2706 HP:0000966 Hypohidrosis OMIM:148210 GJB2 2706 HP:0000618 Blindness OMIM:148210 GJB2 2706 HP:0000535 Sparse eyebrow OMIM:148210 GJB2 2706 HP:0001761 Pes cavus OMIM:148210 GJB2 2706 HP:0000962 Hyperkeratosis OMIM:148210 GJB2 2706 HP:0006380 Knee flexion contracture OMIM:613826 RPGRIP1 57096 HP:0012043 Pendular nystagmus OMIM:613826 RPGRIP1 57096 HP:0000550 Abolished electroretinogram (ERG) OMIM:613826 RPGRIP1 57096 HP:0000518 Cataract OMIM:613826 RPGRIP1 57096 HP:0000613 Photophobia OMIM:613826 RPGRIP1 57096 HP:0000007 Autosomal recessive inheritance OMIM:613826 RPGRIP1 57096 HP:0000563 Keratoconus OMIM:613826 RPGRIP1 57096 HP:0008499 High-grade hypermetropia OMIM:613826 RPGRIP1 57096 HP:0007843 Attenuation of retinal blood vessels OMIM:613826 RPGRIP1 57096 HP:0001141 Severe visual impairment OMIM:277470 TSEN54 283989 HP:0012110 Hypoplasia of the pons OMIM:277470 TSEN54 283989 HP:0001321 Cerebellar hypoplasia OMIM:277470 TSEN54 283989 HP:0002120 Cerebral cortical atrophy OMIM:277470 TSEN54 283989 HP:0002033 Poor suck OMIM:277470 TSEN54 283989 HP:0002179 Opisthotonus OMIM:277470 TSEN54 283989 HP:0002518 Abnormality of the periventricular white matter OMIM:277470 TSEN54 283989 HP:0000253 Progressive microcephaly OMIM:277470 TSEN54 283989 HP:0000007 Autosomal recessive inheritance OMIM:277470 TSEN54 283989 HP:0002171 Gliosis OMIM:277470 TSEN54 283989 HP:0011344 Severe global developmental delay OMIM:277470 TSEN54 283989 HP:0003819 Death in childhood OMIM:277470 TSEN54 283989 HP:0003577 Congenital onset OMIM:277470 TSEN54 283989 HP:0007308 Extrapyramidal dyskinesia OMIM:277470 TSEN54 283989 HP:0001250 Seizures OMIM:277470 TSEN54 283989 HP:0007772 Impaired smooth pursuit OMIM:277470 TSEN54 283989 HP:0000711 Restlessness OMIM:616366 KCNA2 3737 HP:0200134 Epileptic encephalopathy OMIM:616366 KCNA2 3737 HP:0001337 Tremor OMIM:616366 KCNA2 3737 HP:0001250 Seizures OMIM:616366 KCNA2 3737 HP:0001251 Ataxia OMIM:616366 KCNA2 3737 HP:0001336 Myoclonus OMIM:615294 DRC1 92749 HP:0012265 Ciliary dyskinesia OMIM:615294 DRC1 92749 HP:0000246 Sinusitis OMIM:615294 DRC1 92749 HP:0000403 Recurrent otitis media OMIM:615294 DRC1 92749 HP:0100750 Atelectasis OMIM:615294 DRC1 92749 HP:0000007 Autosomal recessive inheritance OMIM:615294 DRC1 92749 HP:0002110 Bronchiectasis OMIM:186550 PITX1 5307 HP:0001156 Brachydactyly syndrome OMIM:186550 PITX1 5307 HP:0001376 Limitation of joint mobility OMIM:186550 PITX1 5307 HP:0003016 Metaphyseal widening OMIM:186550 PITX1 5307 HP:0002997 Abnormality of the ulna OMIM:186550 PITX1 5307 HP:0006190 Radially deviated wrists OMIM:186550 PITX1 5307 HP:0001233 2-3 finger syndactyly OMIM:186550 PITX1 5307 HP:0003063 Abnormality of the humerus OMIM:186550 PITX1 5307 HP:0001231 Abnormality of the fingernails OMIM:186550 PITX1 5307 HP:0009832 Abnormality of the distal phalanx of finger OMIM:186550 PITX1 5307 HP:0004209 Clinodactyly of the 5th finger OMIM:186550 PITX1 5307 HP:0009183 Joint contracture of the 5th finger OMIM:186550 PITX1 5307 HP:0002987 Elbow flexion contracture OMIM:186550 PITX1 5307 HP:0003042 Elbow dislocation OMIM:186550 PITX1 5307 HP:0005048 Synostosis of carpal bones OMIM:186550 PITX1 5307 HP:0000256 Macrocephaly OMIM:186550 PITX1 5307 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:186550 PITX1 5307 HP:0000006 Autosomal dominant inheritance OMIM:611498 GLIS2 84662 HP:0000092 Tubular atrophy OMIM:611498 GLIS2 84662 HP:0000007 Autosomal recessive inheritance OMIM:611498 GLIS2 84662 HP:0003774 Stage 5 chronic kidney disease OMIM:611498 GLIS2 84662 HP:0000090 Nephronophthisis OMIM:615510 GMPPA 29926 HP:0003474 Sensory impairment OMIM:615510 GMPPA 29926 HP:0001263 Global developmental delay OMIM:615510 GMPPA 29926 HP:0000639 Nystagmus OMIM:615510 GMPPA 29926 HP:0009916 Anisocoria OMIM:615510 GMPPA 29926 HP:0002571 Achalasia OMIM:615510 GMPPA 29926 HP:0002015 Dysphagia OMIM:615510 GMPPA 29926 HP:0000365 Hearing impairment OMIM:615510 GMPPA 29926 HP:0011968 Feeding difficulties OMIM:615510 GMPPA 29926 HP:0002459 Dysautonomia OMIM:615510 GMPPA 29926 HP:0001611 Nasal speech OMIM:615510 GMPPA 29926 HP:0001278 Orthostatic hypotension OMIM:615510 GMPPA 29926 HP:0000486 Strabismus OMIM:615510 GMPPA 29926 HP:0000966 Hypohidrosis OMIM:615510 GMPPA 29926 HP:0000522 Alacrima OMIM:615510 GMPPA 29926 HP:0000007 Autosomal recessive inheritance OMIM:615510 GMPPA 29926 HP:0001249 Intellectual disability OMIM:615510 GMPPA 29926 HP:0001288 Gait disturbance OMIM:615510 GMPPA 29926 HP:0001252 Muscular hypotonia OMIM:615510 GMPPA 29926 HP:0000962 Hyperkeratosis ORPHANET:99872 BRAF 673 HP:0002797 Osteolysis ORPHANET:99872 BRAF 673 HP:0002240 Hepatomegaly ORPHANET:99872 BRAF 673 HP:0002665 Lymphoma ORPHANET:99872 BRAF 673 HP:0001744 Splenomegaly ORPHANET:99872 BRAF 673 HP:0005264 Abnormality of the gallbladder ORPHANET:99872 BRAF 673 HP:0000639 Nystagmus ORPHANET:99872 BRAF 673 HP:0100730 Bronchogenic cyst ORPHANET:99872 BRAF 673 HP:0002910 Elevated hepatic transaminases ORPHANET:99872 BRAF 673 HP:0002311 Incoordination ORPHANET:99872 BRAF 673 HP:0005528 Bone marrow hypocellularity ORPHANET:99872 BRAF 673 HP:0002754 Osteomyelitis ORPHANET:99872 BRAF 673 HP:0001034 Hypermelanotic macule ORPHANET:99872 BRAF 673 HP:0002167 Neurological speech impairment ORPHANET:99872 BRAF 673 HP:0002488 Acute leukemia ORPHANET:99872 BRAF 673 HP:0002716 Lymphadenopathy ORPHANET:99872 BRAF 673 HP:0000163 Abnormality of the oral cavity ORPHANET:99872 BRAF 673 HP:0011001 Increased bone mineral density ORPHANET:99872 BRAF 673 HP:0006824 Cranial nerve paralysis ORPHANET:99872 BRAF 673 HP:0001399 Hepatic failure OMIM:601457 RAG2 5897 HP:0004430 Severe combined immunodeficiency OMIM:601457 RAG2 5897 HP:0008866 Failure to thrive secondary to recurrent infections OMIM:601457 RAG2 5897 HP:0005379 Severe T lymphocytopenia OMIM:601457 RAG2 5897 HP:0000509 Conjunctivitis OMIM:601457 RAG2 5897 HP:0010976 B lymphocytopenia OMIM:601457 RAG2 5897 HP:0000007 Autosomal recessive inheritance OMIM:601457 RAG2 5897 HP:0000388 Otitis media OMIM:601457 RAG2 5897 HP:0000265 Mastoiditis OMIM:601457 RAG2 5897 HP:0001369 Arthritis OMIM:601457 RAG2 5897 HP:0003139 Panhypogammaglobulinemia OMIM:601457 RAG2 5897 HP:0001508 Failure to thrive OMIM:601457 RAG2 5897 HP:0005390 Recurrent opportunistic infections OMIM:601457 RAG2 5897 HP:0002014 Diarrhea OMIM:601457 RAG2 5897 HP:0000271 Abnormality of the face OMIM:601457 RAG2 5897 HP:0001287 Meningitis OMIM:601457 RAG2 5897 HP:0002090 Pneumonia OMIM:601457 RAG1 5896 HP:0004430 Severe combined immunodeficiency OMIM:601457 RAG1 5896 HP:0008866 Failure to thrive secondary to recurrent infections OMIM:601457 RAG1 5896 HP:0005379 Severe T lymphocytopenia OMIM:601457 RAG1 5896 HP:0000509 Conjunctivitis OMIM:601457 RAG1 5896 HP:0010976 B lymphocytopenia OMIM:601457 RAG1 5896 HP:0000007 Autosomal recessive inheritance OMIM:601457 RAG1 5896 HP:0000388 Otitis media OMIM:601457 RAG1 5896 HP:0000265 Mastoiditis OMIM:601457 RAG1 5896 HP:0001369 Arthritis OMIM:601457 RAG1 5896 HP:0003139 Panhypogammaglobulinemia OMIM:601457 RAG1 5896 HP:0001508 Failure to thrive OMIM:601457 RAG1 5896 HP:0005390 Recurrent opportunistic infections OMIM:601457 RAG1 5896 HP:0002014 Diarrhea OMIM:601457 RAG1 5896 HP:0000271 Abnormality of the face OMIM:601457 RAG1 5896 HP:0001287 Meningitis OMIM:601457 RAG1 5896 HP:0002090 Pneumonia OMIM:616022 JAGN1 84522 HP:0001508 Failure to thrive OMIM:616022 JAGN1 84522 HP:0002718 Recurrent bacterial infections OMIM:616022 JAGN1 84522 HP:0001875 Neutropenia OMIM:616022 JAGN1 84522 HP:0000403 Recurrent otitis media OMIM:616022 JAGN1 84522 HP:0002205 Recurrent respiratory infections OMIM:616022 JAGN1 84522 HP:0004322 Short stature OMIM:603860 UMOD 7369 HP:0008659 Multiple small medullary renal cysts OMIM:607554 KCNQ1 3784 HP:0005110 Atrial fibrillation OMIM:607554 KCNQ1 3784 HP:0000006 Autosomal dominant inheritance OMIM:607554 KCNQ1 3784 HP:0001727 Thromboembolic stroke OMIM:607554 KCNQ1 3784 HP:0001649 Tachycardia OMIM:607015 IDUA 3425 HP:0002652 Skeletal dysplasia OMIM:607015 IDUA 3425 HP:0001654 Abnormality of the heart valves OMIM:607015 IDUA 3425 HP:0002650 Scoliosis OMIM:607015 IDUA 3425 HP:0001639 Hypertrophic cardiomyopathy OMIM:607015 IDUA 3425 HP:0001744 Splenomegaly OMIM:607015 IDUA 3425 HP:0002240 Hepatomegaly OMIM:607015 IDUA 3425 HP:0000762 Decreased nerve conduction velocity OMIM:607015 IDUA 3425 HP:0000347 Micrognathia OMIM:607015 IDUA 3425 HP:0002808 Kyphosis OMIM:607015 IDUA 3425 HP:0000007 Autosomal recessive inheritance OMIM:607015 IDUA 3425 HP:0007957 Corneal opacity OMIM:607015 IDUA 3425 HP:0001653 Mitral regurgitation OMIM:607015 IDUA 3425 HP:0002092 Pulmonary hypertension OMIM:607015 IDUA 3425 HP:0004322 Short stature OMIM:607015 IDUA 3425 HP:0000246 Sinusitis OMIM:607015 IDUA 3425 HP:0100790 Hernia OMIM:607015 IDUA 3425 HP:0100765 Abnormality of the tonsils OMIM:607015 IDUA 3425 HP:0001387 Joint stiffness OMIM:607015 IDUA 3425 HP:0003416 Spinal canal stenosis OMIM:607015 IDUA 3425 HP:0001537 Umbilical hernia OMIM:607015 IDUA 3425 HP:0005280 Depressed nasal bridge OMIM:607015 IDUA 3425 HP:0007256 Abnormal pyramidal signs OMIM:607015 IDUA 3425 HP:0007759 Opacification of the corneal stroma OMIM:607015 IDUA 3425 HP:0000998 Hypertrichosis OMIM:607015 IDUA 3425 HP:0000407 Sensorineural hearing impairment OMIM:607015 IDUA 3425 HP:0001659 Aortic regurgitation OMIM:607015 IDUA 3425 HP:0003312 Abnormal form of the vertebral bodies OMIM:607015 IDUA 3425 HP:0002870 Obstructive sleep apnea OMIM:607015 IDUA 3425 HP:0002777 Tracheal stenosis OMIM:607015 IDUA 3425 HP:0001376 Limitation of joint mobility OMIM:607015 IDUA 3425 HP:0001007 Hirsutism OMIM:607015 IDUA 3425 HP:0000943 Dysostosis multiplex OMIM:607015 IDUA 3425 HP:0000280 Coarse facial features OMIM:607015 IDUA 3425 HP:0002205 Recurrent respiratory infections OMIM:607015 IDUA 3425 HP:0012471 Thick vermilion border OMIM:615575 FBXO38 81545 HP:0001761 Pes cavus OMIM:615575 FBXO38 81545 HP:0007269 Spinal muscular atrophy OMIM:615575 FBXO38 81545 HP:0002355 Difficulty walking OMIM:615575 FBXO38 81545 HP:0003828 Variable expressivity OMIM:615575 FBXO38 81545 HP:0000006 Autosomal dominant inheritance OMIM:615575 FBXO38 81545 HP:0009005 Weakness of the intrinsic hand muscles OMIM:615575 FBXO38 81545 HP:0009046 Difficulty running OMIM:615575 FBXO38 81545 HP:0007340 Lower limb muscle weakness OMIM:615575 FBXO38 81545 HP:0002380 Fasciculations OMIM:615575 FBXO38 81545 HP:0003677 Slow progression OMIM:615575 FBXO38 81545 HP:0003394 Muscle cramps OMIM:300400 IL2RG 3561 HP:0009098 Chronic oral candidiasis OMIM:300400 IL2RG 3561 HP:0004432 Agammaglobulinemia OMIM:300400 IL2RG 3561 HP:0002028 Chronic diarrhea OMIM:300400 IL2RG 3561 HP:0004430 Severe combined immunodeficiency OMIM:300400 IL2RG 3561 HP:0001508 Failure to thrive OMIM:300400 IL2RG 3561 HP:0000988 Skin rash OMIM:300400 IL2RG 3561 HP:0001419 X-linked recessive inheritance OMIM:300400 IL2RG 3561 HP:0002841 Recurrent fungal infections OMIM:300400 IL2RG 3561 HP:0002090 Pneumonia OMIM:300400 IL2RG 3561 HP:0000778 Hypoplasia of the thymus OMIM:300400 IL2RG 3561 HP:0007274 Recurrent bacterial meningitis OMIM:300400 IL2RG 3561 HP:0002240 Hepatomegaly ORPHANET:1377 GJA8 2703 HP:0001131 Corneal dystrophy ORPHANET:1377 GJA8 2703 HP:0000612 Iris coloboma ORPHANET:1377 GJA8 2703 HP:0000545 Myopia ORPHANET:1377 GJA8 2703 HP:0000518 Cataract ORPHANET:1377 GJA8 2703 HP:0007759 Opacification of the corneal stroma ORPHANET:1377 GJA8 2703 HP:0000639 Nystagmus ORPHANET:1377 GJA8 2703 HP:0000482 Microcornea ORPHANET:1377 CRYAA 1409 HP:0001131 Corneal dystrophy ORPHANET:1377 CRYAA 1409 HP:0000612 Iris coloboma ORPHANET:1377 CRYAA 1409 HP:0000545 Myopia ORPHANET:1377 CRYAA 1409 HP:0000518 Cataract ORPHANET:1377 CRYAA 1409 HP:0007759 Opacification of the corneal stroma ORPHANET:1377 CRYAA 1409 HP:0000639 Nystagmus ORPHANET:1377 CRYAA 1409 HP:0000482 Microcornea ORPHANET:1377 CRYBB2 1415 HP:0001131 Corneal dystrophy ORPHANET:1377 CRYBB2 1415 HP:0000612 Iris coloboma ORPHANET:1377 CRYBB2 1415 HP:0000545 Myopia ORPHANET:1377 CRYBB2 1415 HP:0000518 Cataract ORPHANET:1377 CRYBB2 1415 HP:0007759 Opacification of the corneal stroma ORPHANET:1377 CRYBB2 1415 HP:0000639 Nystagmus ORPHANET:1377 CRYBB2 1415 HP:0000482 Microcornea ORPHANET:1377 CRYBB1 1414 HP:0001131 Corneal dystrophy ORPHANET:1377 CRYBB1 1414 HP:0000612 Iris coloboma ORPHANET:1377 CRYBB1 1414 HP:0000545 Myopia ORPHANET:1377 CRYBB1 1414 HP:0000518 Cataract ORPHANET:1377 CRYBB1 1414 HP:0007759 Opacification of the corneal stroma ORPHANET:1377 CRYBB1 1414 HP:0000639 Nystagmus ORPHANET:1377 CRYBB1 1414 HP:0000482 Microcornea ORPHANET:1377 CRYBA4 1413 HP:0001131 Corneal dystrophy ORPHANET:1377 CRYBA4 1413 HP:0000612 Iris coloboma ORPHANET:1377 CRYBA4 1413 HP:0000545 Myopia ORPHANET:1377 CRYBA4 1413 HP:0000518 Cataract ORPHANET:1377 CRYBA4 1413 HP:0007759 Opacification of the corneal stroma ORPHANET:1377 CRYBA4 1413 HP:0000639 Nystagmus ORPHANET:1377 CRYBA4 1413 HP:0000482 Microcornea ORPHANET:1377 MAF 4094 HP:0001131 Corneal dystrophy ORPHANET:1377 MAF 4094 HP:0000612 Iris coloboma ORPHANET:1377 MAF 4094 HP:0000545 Myopia ORPHANET:1377 MAF 4094 HP:0000518 Cataract ORPHANET:1377 MAF 4094 HP:0007759 Opacification of the corneal stroma ORPHANET:1377 MAF 4094 HP:0000639 Nystagmus ORPHANET:1377 MAF 4094 HP:0000482 Microcornea ORPHANET:1377 CRYGD 1421 HP:0001131 Corneal dystrophy ORPHANET:1377 CRYGD 1421 HP:0000612 Iris coloboma ORPHANET:1377 CRYGD 1421 HP:0000545 Myopia ORPHANET:1377 CRYGD 1421 HP:0000518 Cataract ORPHANET:1377 CRYGD 1421 HP:0007759 Opacification of the corneal stroma ORPHANET:1377 CRYGD 1421 HP:0000639 Nystagmus ORPHANET:1377 CRYGD 1421 HP:0000482 Microcornea ORPHANET:1377 CRYGC 1420 HP:0001131 Corneal dystrophy ORPHANET:1377 CRYGC 1420 HP:0000612 Iris coloboma ORPHANET:1377 CRYGC 1420 HP:0000545 Myopia ORPHANET:1377 CRYGC 1420 HP:0000518 Cataract ORPHANET:1377 CRYGC 1420 HP:0007759 Opacification of the corneal stroma ORPHANET:1377 CRYGC 1420 HP:0000639 Nystagmus ORPHANET:1377 CRYGC 1420 HP:0000482 Microcornea OMIM:143095 CHST3 9469 HP:0009882 Short distal phalanx of finger OMIM:143095 CHST3 9469 HP:0005180 Tricuspid regurgitation OMIM:143095 CHST3 9469 HP:0003090 Hypoplasia of the capital femoral epiphysis OMIM:143095 CHST3 9469 HP:0000218 High palate OMIM:143095 CHST3 9469 HP:0100490 Camptodactyly of finger OMIM:143095 CHST3 9469 HP:0002655 Spondyloepiphyseal dysplasia OMIM:143095 CHST3 9469 HP:0006067 Multiple carpal ossification centers OMIM:143095 CHST3 9469 HP:0000684 Delayed eruption of teeth OMIM:143095 CHST3 9469 HP:0002938 Lumbar hyperlordosis OMIM:143095 CHST3 9469 HP:0003417 Coronal cleft vertebrae OMIM:143095 CHST3 9469 HP:0002194 Delayed gross motor development OMIM:143095 CHST3 9469 HP:0001650 Aortic valve stenosis OMIM:143095 CHST3 9469 HP:0002857 Genu valgum OMIM:143095 CHST3 9469 HP:0008551 Microtia OMIM:143095 CHST3 9469 HP:0002553 Highly arched eyebrow OMIM:143095 CHST3 9469 HP:0009803 Short phalanx of finger OMIM:143095 CHST3 9469 HP:0003093 Limited hip extension OMIM:143095 CHST3 9469 HP:0001552 Barrel-shaped chest OMIM:143095 CHST3 9469 HP:0010446 Tricuspid stenosis OMIM:143095 CHST3 9469 HP:0000365 Hearing impairment OMIM:143095 CHST3 9469 HP:0000343 Long philtrum OMIM:143095 CHST3 9469 HP:0001763 Pes planus OMIM:143095 CHST3 9469 HP:0001714 Ventricular hypertrophy OMIM:143095 CHST3 9469 HP:0002967 Cubitus valgus OMIM:143095 CHST3 9469 HP:0002945 Intervertebral space narrowing OMIM:143095 CHST3 9469 HP:0003031 Ulnar bowing OMIM:143095 CHST3 9469 HP:0001156 Brachydactyly syndrome OMIM:143095 CHST3 9469 HP:0001629 Ventricular septal defect OMIM:143095 CHST3 9469 HP:0000007 Autosomal recessive inheritance OMIM:143095 CHST3 9469 HP:0003301 Irregular vertebral endplates OMIM:143095 CHST3 9469 HP:0001718 Mitral stenosis OMIM:143095 CHST3 9469 HP:0003042 Elbow dislocation OMIM:143095 CHST3 9469 HP:0000470 Short neck OMIM:143095 CHST3 9469 HP:0003022 Hypoplasia of the ulna OMIM:143095 CHST3 9469 HP:0001762 Talipes equinovarus OMIM:143095 CHST3 9469 HP:0003184 Decreased hip abduction OMIM:143095 CHST3 9469 HP:0008450 Narrow vertebral interpedicular distance OMIM:143095 CHST3 9469 HP:0007598 Bilateral single transverse palmar creases OMIM:143095 CHST3 9469 HP:0000687 Widely spaced teeth OMIM:143095 CHST3 9469 HP:0006462 Generalized bone demineralization OMIM:143095 CHST3 9469 HP:0001642 Pulmonic stenosis OMIM:143095 CHST3 9469 HP:0003071 Flattened epiphysis OMIM:143095 CHST3 9469 HP:0009179 Deviation of the 5th finger OMIM:143095 CHST3 9469 HP:0003834 Shoulder dislocation OMIM:143095 CHST3 9469 HP:0002092 Pulmonary hypertension OMIM:143095 CHST3 9469 HP:0010585 Small epiphyses OMIM:143095 CHST3 9469 HP:0000006 Autosomal dominant inheritance OMIM:143095 CHST3 9469 HP:0000535 Sparse eyebrow OMIM:143095 CHST3 9469 HP:0002515 Waddling gait OMIM:143095 CHST3 9469 HP:0003040 Arthropathy OMIM:143095 CHST3 9469 HP:0010049 Short metacarpal OMIM:143095 CHST3 9469 HP:0006471 Fixed elbow flexion OMIM:143095 CHST3 9469 HP:0008905 Rhizomelia OMIM:143095 CHST3 9469 HP:0002751 Kyphoscoliosis OMIM:143095 CHST3 9469 HP:0100864 Short femoral neck OMIM:143095 CHST3 9469 HP:0002982 Tibial bowing OMIM:143095 CHST3 9469 HP:0004976 Knee dislocation OMIM:143095 CHST3 9469 HP:0002750 Delayed skeletal maturation OMIM:143095 CHST3 9469 HP:0002829 Arthralgia OMIM:143095 CHST3 9469 HP:0001659 Aortic regurgitation OMIM:143095 CHST3 9469 HP:0000316 Hypertelorism OMIM:143095 CHST3 9469 HP:0006610 Wide intermamillary distance OMIM:143095 CHST3 9469 HP:0001653 Mitral regurgitation OMIM:143095 CHST3 9469 HP:0000337 Broad forehead OMIM:143095 CHST3 9469 HP:0000691 Microdontia OMIM:612446 C6 729 HP:0005381 Recurrent meningococcal disease OMIM:612446 C6 729 HP:0004431 Complement deficiency OMIM:612446 C6 729 HP:0000007 Autosomal recessive inheritance OMIM:109400 SUFU 51684 HP:0000316 Hypertelorism OMIM:109400 SUFU 51684 HP:0001156 Brachydactyly syndrome OMIM:109400 SUFU 51684 HP:0000256 Macrocephaly OMIM:109400 SUFU 51684 HP:0009650 Short distal phalanx of the thumb OMIM:109400 SUFU 51684 HP:0000772 Abnormality of the ribs OMIM:109400 SUFU 51684 HP:0006101 Finger syndactyly OMIM:109400 SUFU 51684 HP:0100615 Ovarian neoplasm OMIM:109400 SUFU 51684 HP:0002797 Osteolysis OMIM:109400 SUFU 51684 HP:0000588 Optic nerve coloboma OMIM:109400 SUFU 51684 HP:0010610 Palmar pits OMIM:109400 SUFU 51684 HP:0100544 Neoplasm of the heart OMIM:109400 SUFU 51684 HP:0010442 Polydactyly OMIM:109400 SUFU 51684 HP:0010044 Short 4th metacarpal OMIM:109400 SUFU 51684 HP:0000773 Short ribs OMIM:109400 SUFU 51684 HP:0003312 Abnormal form of the vertebral bodies OMIM:109400 SUFU 51684 HP:0002007 Frontal bossing OMIM:109400 SUFU 51684 HP:0000612 Iris coloboma OMIM:109400 SUFU 51684 HP:0000303 Mandibular prognathia OMIM:109400 SUFU 51684 HP:0010617 Cardiac fibroma OMIM:109400 SUFU 51684 HP:0000766 Abnormality of the sternum OMIM:109400 SUFU 51684 HP:0000204 Cleft upper lip OMIM:109400 SUFU 51684 HP:0002650 Scoliosis OMIM:109400 SUFU 51684 HP:0002937 Hemivertebrae OMIM:109400 SUFU 51684 HP:0008422 Vertebral wedging OMIM:109400 SUFU 51684 HP:0005462 Calcification of falx cerebri OMIM:109400 SUFU 51684 HP:0000892 Bifid ribs OMIM:109400 SUFU 51684 HP:0000431 Wide nasal bridge OMIM:109400 SUFU 51684 HP:0003828 Variable expressivity OMIM:109400 SUFU 51684 HP:0000464 Abnormality of the neck OMIM:109400 SUFU 51684 HP:0009729 Cardiac rhabdomyoma OMIM:109400 SUFU 51684 HP:0009733 Glioma OMIM:109400 SUFU 51684 HP:0100730 Bronchogenic cyst OMIM:109400 SUFU 51684 HP:0012062 Bone cyst OMIM:109400 SUFU 51684 HP:0000670 Carious teeth OMIM:109400 SUFU 51684 HP:0004408 Abnormality of the sense of smell OMIM:109400 SUFU 51684 HP:0200042 Skin ulcer OMIM:109400 SUFU 51684 HP:0001161 Hand polydactyly OMIM:109400 SUFU 51684 HP:0001056 Milia OMIM:109400 SUFU 51684 HP:0000280 Coarse facial features OMIM:109400 SUFU 51684 HP:0000242 Parietal bossing OMIM:109400 SUFU 51684 HP:0004280 Irregular ossification of hand bones OMIM:109400 SUFU 51684 HP:0000501 Glaucoma OMIM:109400 SUFU 51684 HP:0000505 Visual impairment OMIM:109400 SUFU 51684 HP:0200021 Down-sloping shoulders OMIM:109400 SUFU 51684 HP:0005815 Supernumerary ribs OMIM:109400 SUFU 51684 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:109400 SUFU 51684 HP:0000486 Strabismus OMIM:109400 SUFU 51684 HP:0010612 Plantar pits OMIM:109400 SUFU 51684 HP:0001250 Seizures OMIM:109400 SUFU 51684 HP:0002414 Spina bifida OMIM:109400 SUFU 51684 HP:0000238 Hydrocephalus OMIM:109400 SUFU 51684 HP:0000771 Gynecomastia OMIM:109400 SUFU 51684 HP:0001249 Intellectual disability OMIM:109400 SUFU 51684 HP:0002948 Vertebral fusion OMIM:109400 SUFU 51684 HP:0002751 Kyphoscoliosis OMIM:109400 SUFU 51684 HP:0100242 Sarcoma OMIM:109400 SUFU 51684 HP:0000518 Cataract OMIM:109400 SUFU 51684 HP:0002858 Meningioma OMIM:109400 SUFU 51684 HP:0010609 Skin tags OMIM:109400 SUFU 51684 HP:0100543 Cognitive impairment OMIM:109400 SUFU 51684 HP:0000202 Oral cleft OMIM:109400 SUFU 51684 HP:0002885 Medulloblastoma OMIM:109400 SUFU 51684 HP:0000982 Palmoplantar keratoderma OMIM:109400 SUFU 51684 HP:0010767 Sacrococcygeal pilonidal abnormality OMIM:109400 SUFU 51684 HP:0003298 Spina bifida occulta OMIM:109400 SUFU 51684 HP:0002671 Basal cell carcinoma OMIM:109400 SUFU 51684 HP:0002103 Abnormality of the pleura OMIM:109400 SUFU 51684 HP:0000520 Proptosis OMIM:109400 SUFU 51684 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:109400 SUFU 51684 HP:0008069 Neoplasm of the skin OMIM:109400 SUFU 51684 HP:0001166 Arachnodactyly OMIM:109400 SUFU 51684 HP:0000107 Renal cyst OMIM:109400 SUFU 51684 HP:0000286 Epicanthus OMIM:109400 SUFU 51684 HP:0004795 Hamartomatous stomach polyps OMIM:109400 SUFU 51684 HP:0000506 Telecanthus OMIM:109400 SUFU 51684 HP:0200008 Intestinal polyposis OMIM:109400 SUFU 51684 HP:0000175 Cleft palate OMIM:109400 SUFU 51684 HP:0000405 Conductive hearing impairment OMIM:109400 SUFU 51684 HP:0003422 Vertebral segmentation defect OMIM:109400 SUFU 51684 HP:0000147 Polycystic ovaries OMIM:109400 SUFU 51684 HP:0001144 Orbital cyst OMIM:109400 SUFU 51684 HP:0001270 Motor delay OMIM:109400 SUFU 51684 HP:0001425 Heterogeneous OMIM:109400 SUFU 51684 HP:0010603 Keratocystic odontogenic tumor OMIM:109400 SUFU 51684 HP:0000006 Autosomal dominant inheritance OMIM:109400 SUFU 51684 HP:0000682 Abnormality of dental enamel OMIM:109400 SUFU 51684 HP:0000995 Melanocytic nevus OMIM:109400 SUFU 51684 HP:0005344 Abnormality of the carotid arteries OMIM:109400 SUFU 51684 HP:0000639 Nystagmus OMIM:109400 SUFU 51684 HP:0005449 Bridged sella turcica OMIM:109400 SUFU 51684 HP:0000028 Cryptorchidism OMIM:109400 SUFU 51684 HP:0010618 Ovarian fibroma OMIM:109400 SUFU 51684 HP:0000098 Tall stature OMIM:109400 SUFU 51684 HP:0000912 Sprengel anomaly OMIM:109400 SUFU 51684 HP:0000568 Microphthalmos OMIM:109400 SUFU 51684 HP:0001163 Abnormality of the metacarpal bones OMIM:109400 SUFU 51684 HP:0002072 Chorea OMIM:109400 PTCH1 5727 HP:0000316 Hypertelorism OMIM:109400 PTCH1 5727 HP:0001156 Brachydactyly syndrome OMIM:109400 PTCH1 5727 HP:0000256 Macrocephaly OMIM:109400 PTCH1 5727 HP:0009650 Short distal phalanx of the thumb OMIM:109400 PTCH1 5727 HP:0000772 Abnormality of the ribs OMIM:109400 PTCH1 5727 HP:0006101 Finger syndactyly OMIM:109400 PTCH1 5727 HP:0100615 Ovarian neoplasm OMIM:109400 PTCH1 5727 HP:0002797 Osteolysis OMIM:109400 PTCH1 5727 HP:0000588 Optic nerve coloboma OMIM:109400 PTCH1 5727 HP:0010610 Palmar pits OMIM:109400 PTCH1 5727 HP:0100544 Neoplasm of the heart OMIM:109400 PTCH1 5727 HP:0010442 Polydactyly OMIM:109400 PTCH1 5727 HP:0010044 Short 4th metacarpal OMIM:109400 PTCH1 5727 HP:0000773 Short ribs OMIM:109400 PTCH1 5727 HP:0003312 Abnormal form of the vertebral bodies OMIM:109400 PTCH1 5727 HP:0002007 Frontal bossing OMIM:109400 PTCH1 5727 HP:0000612 Iris coloboma OMIM:109400 PTCH1 5727 HP:0000303 Mandibular prognathia OMIM:109400 PTCH1 5727 HP:0010617 Cardiac fibroma OMIM:109400 PTCH1 5727 HP:0000766 Abnormality of the sternum OMIM:109400 PTCH1 5727 HP:0000204 Cleft upper lip OMIM:109400 PTCH1 5727 HP:0002650 Scoliosis OMIM:109400 PTCH1 5727 HP:0002937 Hemivertebrae OMIM:109400 PTCH1 5727 HP:0008422 Vertebral wedging OMIM:109400 PTCH1 5727 HP:0005462 Calcification of falx cerebri OMIM:109400 PTCH1 5727 HP:0000892 Bifid ribs OMIM:109400 PTCH1 5727 HP:0000431 Wide nasal bridge OMIM:109400 PTCH1 5727 HP:0003828 Variable expressivity OMIM:109400 PTCH1 5727 HP:0000464 Abnormality of the neck OMIM:109400 PTCH1 5727 HP:0009729 Cardiac rhabdomyoma OMIM:109400 PTCH1 5727 HP:0009733 Glioma OMIM:109400 PTCH1 5727 HP:0100730 Bronchogenic cyst OMIM:109400 PTCH1 5727 HP:0012062 Bone cyst OMIM:109400 PTCH1 5727 HP:0000670 Carious teeth OMIM:109400 PTCH1 5727 HP:0004408 Abnormality of the sense of smell OMIM:109400 PTCH1 5727 HP:0200042 Skin ulcer OMIM:109400 PTCH1 5727 HP:0001161 Hand polydactyly OMIM:109400 PTCH1 5727 HP:0001056 Milia OMIM:109400 PTCH1 5727 HP:0000280 Coarse facial features OMIM:109400 PTCH1 5727 HP:0000242 Parietal bossing OMIM:109400 PTCH1 5727 HP:0004280 Irregular ossification of hand bones OMIM:109400 PTCH1 5727 HP:0000501 Glaucoma OMIM:109400 PTCH1 5727 HP:0000505 Visual impairment OMIM:109400 PTCH1 5727 HP:0200021 Down-sloping shoulders OMIM:109400 PTCH1 5727 HP:0005815 Supernumerary ribs OMIM:109400 PTCH1 5727 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:109400 PTCH1 5727 HP:0000486 Strabismus OMIM:109400 PTCH1 5727 HP:0010612 Plantar pits OMIM:109400 PTCH1 5727 HP:0001250 Seizures OMIM:109400 PTCH1 5727 HP:0002414 Spina bifida OMIM:109400 PTCH1 5727 HP:0000238 Hydrocephalus OMIM:109400 PTCH1 5727 HP:0000771 Gynecomastia OMIM:109400 PTCH1 5727 HP:0001249 Intellectual disability OMIM:109400 PTCH1 5727 HP:0002948 Vertebral fusion OMIM:109400 PTCH1 5727 HP:0002751 Kyphoscoliosis OMIM:109400 PTCH1 5727 HP:0100242 Sarcoma OMIM:109400 PTCH1 5727 HP:0000518 Cataract OMIM:109400 PTCH1 5727 HP:0002858 Meningioma OMIM:109400 PTCH1 5727 HP:0010609 Skin tags OMIM:109400 PTCH1 5727 HP:0100543 Cognitive impairment OMIM:109400 PTCH1 5727 HP:0000202 Oral cleft OMIM:109400 PTCH1 5727 HP:0002885 Medulloblastoma OMIM:109400 PTCH1 5727 HP:0000982 Palmoplantar keratoderma OMIM:109400 PTCH1 5727 HP:0010767 Sacrococcygeal pilonidal abnormality OMIM:109400 PTCH1 5727 HP:0003298 Spina bifida occulta OMIM:109400 PTCH1 5727 HP:0002671 Basal cell carcinoma OMIM:109400 PTCH1 5727 HP:0002103 Abnormality of the pleura OMIM:109400 PTCH1 5727 HP:0000520 Proptosis OMIM:109400 PTCH1 5727 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:109400 PTCH1 5727 HP:0008069 Neoplasm of the skin OMIM:109400 PTCH1 5727 HP:0001166 Arachnodactyly OMIM:109400 PTCH1 5727 HP:0000107 Renal cyst OMIM:109400 PTCH1 5727 HP:0000286 Epicanthus OMIM:109400 PTCH1 5727 HP:0004795 Hamartomatous stomach polyps OMIM:109400 PTCH1 5727 HP:0000506 Telecanthus OMIM:109400 PTCH1 5727 HP:0200008 Intestinal polyposis OMIM:109400 PTCH1 5727 HP:0000175 Cleft palate OMIM:109400 PTCH1 5727 HP:0000405 Conductive hearing impairment OMIM:109400 PTCH1 5727 HP:0003422 Vertebral segmentation defect OMIM:109400 PTCH1 5727 HP:0000147 Polycystic ovaries OMIM:109400 PTCH1 5727 HP:0001144 Orbital cyst OMIM:109400 PTCH1 5727 HP:0001270 Motor delay OMIM:109400 PTCH1 5727 HP:0001425 Heterogeneous OMIM:109400 PTCH1 5727 HP:0010603 Keratocystic odontogenic tumor OMIM:109400 PTCH1 5727 HP:0000006 Autosomal dominant inheritance OMIM:109400 PTCH1 5727 HP:0000682 Abnormality of dental enamel OMIM:109400 PTCH1 5727 HP:0000995 Melanocytic nevus OMIM:109400 PTCH1 5727 HP:0005344 Abnormality of the carotid arteries OMIM:109400 PTCH1 5727 HP:0000639 Nystagmus OMIM:109400 PTCH1 5727 HP:0005449 Bridged sella turcica OMIM:109400 PTCH1 5727 HP:0000028 Cryptorchidism OMIM:109400 PTCH1 5727 HP:0010618 Ovarian fibroma OMIM:109400 PTCH1 5727 HP:0000098 Tall stature OMIM:109400 PTCH1 5727 HP:0000912 Sprengel anomaly OMIM:109400 PTCH1 5727 HP:0000568 Microphthalmos OMIM:109400 PTCH1 5727 HP:0001163 Abnormality of the metacarpal bones OMIM:109400 PTCH1 5727 HP:0002072 Chorea OMIM:109400 PTCH2 8643 HP:0000316 Hypertelorism OMIM:109400 PTCH2 8643 HP:0001156 Brachydactyly syndrome OMIM:109400 PTCH2 8643 HP:0000256 Macrocephaly OMIM:109400 PTCH2 8643 HP:0009650 Short distal phalanx of the thumb OMIM:109400 PTCH2 8643 HP:0000772 Abnormality of the ribs OMIM:109400 PTCH2 8643 HP:0006101 Finger syndactyly OMIM:109400 PTCH2 8643 HP:0100615 Ovarian neoplasm OMIM:109400 PTCH2 8643 HP:0002797 Osteolysis OMIM:109400 PTCH2 8643 HP:0000588 Optic nerve coloboma OMIM:109400 PTCH2 8643 HP:0010610 Palmar pits OMIM:109400 PTCH2 8643 HP:0100544 Neoplasm of the heart OMIM:109400 PTCH2 8643 HP:0010442 Polydactyly OMIM:109400 PTCH2 8643 HP:0010044 Short 4th metacarpal OMIM:109400 PTCH2 8643 HP:0000773 Short ribs OMIM:109400 PTCH2 8643 HP:0003312 Abnormal form of the vertebral bodies OMIM:109400 PTCH2 8643 HP:0002007 Frontal bossing OMIM:109400 PTCH2 8643 HP:0000612 Iris coloboma OMIM:109400 PTCH2 8643 HP:0000303 Mandibular prognathia OMIM:109400 PTCH2 8643 HP:0010617 Cardiac fibroma OMIM:109400 PTCH2 8643 HP:0000766 Abnormality of the sternum OMIM:109400 PTCH2 8643 HP:0000204 Cleft upper lip OMIM:109400 PTCH2 8643 HP:0002650 Scoliosis OMIM:109400 PTCH2 8643 HP:0002937 Hemivertebrae OMIM:109400 PTCH2 8643 HP:0008422 Vertebral wedging OMIM:109400 PTCH2 8643 HP:0005462 Calcification of falx cerebri OMIM:109400 PTCH2 8643 HP:0000892 Bifid ribs OMIM:109400 PTCH2 8643 HP:0000431 Wide nasal bridge OMIM:109400 PTCH2 8643 HP:0003828 Variable expressivity OMIM:109400 PTCH2 8643 HP:0000464 Abnormality of the neck OMIM:109400 PTCH2 8643 HP:0009729 Cardiac rhabdomyoma OMIM:109400 PTCH2 8643 HP:0009733 Glioma OMIM:109400 PTCH2 8643 HP:0100730 Bronchogenic cyst OMIM:109400 PTCH2 8643 HP:0012062 Bone cyst OMIM:109400 PTCH2 8643 HP:0000670 Carious teeth OMIM:109400 PTCH2 8643 HP:0004408 Abnormality of the sense of smell OMIM:109400 PTCH2 8643 HP:0200042 Skin ulcer OMIM:109400 PTCH2 8643 HP:0001161 Hand polydactyly OMIM:109400 PTCH2 8643 HP:0001056 Milia OMIM:109400 PTCH2 8643 HP:0000280 Coarse facial features OMIM:109400 PTCH2 8643 HP:0000242 Parietal bossing OMIM:109400 PTCH2 8643 HP:0004280 Irregular ossification of hand bones OMIM:109400 PTCH2 8643 HP:0000501 Glaucoma OMIM:109400 PTCH2 8643 HP:0000505 Visual impairment OMIM:109400 PTCH2 8643 HP:0200021 Down-sloping shoulders OMIM:109400 PTCH2 8643 HP:0005815 Supernumerary ribs OMIM:109400 PTCH2 8643 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:109400 PTCH2 8643 HP:0000486 Strabismus OMIM:109400 PTCH2 8643 HP:0010612 Plantar pits OMIM:109400 PTCH2 8643 HP:0001250 Seizures OMIM:109400 PTCH2 8643 HP:0002414 Spina bifida OMIM:109400 PTCH2 8643 HP:0000238 Hydrocephalus OMIM:109400 PTCH2 8643 HP:0000771 Gynecomastia OMIM:109400 PTCH2 8643 HP:0001249 Intellectual disability OMIM:109400 PTCH2 8643 HP:0002948 Vertebral fusion OMIM:109400 PTCH2 8643 HP:0002751 Kyphoscoliosis OMIM:109400 PTCH2 8643 HP:0100242 Sarcoma OMIM:109400 PTCH2 8643 HP:0000518 Cataract OMIM:109400 PTCH2 8643 HP:0002858 Meningioma OMIM:109400 PTCH2 8643 HP:0010609 Skin tags OMIM:109400 PTCH2 8643 HP:0100543 Cognitive impairment OMIM:109400 PTCH2 8643 HP:0000202 Oral cleft OMIM:109400 PTCH2 8643 HP:0002885 Medulloblastoma OMIM:109400 PTCH2 8643 HP:0000982 Palmoplantar keratoderma OMIM:109400 PTCH2 8643 HP:0010767 Sacrococcygeal pilonidal abnormality OMIM:109400 PTCH2 8643 HP:0003298 Spina bifida occulta OMIM:109400 PTCH2 8643 HP:0002671 Basal cell carcinoma OMIM:109400 PTCH2 8643 HP:0002103 Abnormality of the pleura OMIM:109400 PTCH2 8643 HP:0000520 Proptosis OMIM:109400 PTCH2 8643 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:109400 PTCH2 8643 HP:0008069 Neoplasm of the skin OMIM:109400 PTCH2 8643 HP:0001166 Arachnodactyly OMIM:109400 PTCH2 8643 HP:0000107 Renal cyst OMIM:109400 PTCH2 8643 HP:0000286 Epicanthus OMIM:109400 PTCH2 8643 HP:0004795 Hamartomatous stomach polyps OMIM:109400 PTCH2 8643 HP:0000506 Telecanthus OMIM:109400 PTCH2 8643 HP:0200008 Intestinal polyposis OMIM:109400 PTCH2 8643 HP:0000175 Cleft palate OMIM:109400 PTCH2 8643 HP:0000405 Conductive hearing impairment OMIM:109400 PTCH2 8643 HP:0003422 Vertebral segmentation defect OMIM:109400 PTCH2 8643 HP:0000147 Polycystic ovaries OMIM:109400 PTCH2 8643 HP:0001144 Orbital cyst OMIM:109400 PTCH2 8643 HP:0001270 Motor delay OMIM:109400 PTCH2 8643 HP:0001425 Heterogeneous OMIM:109400 PTCH2 8643 HP:0010603 Keratocystic odontogenic tumor OMIM:109400 PTCH2 8643 HP:0000006 Autosomal dominant inheritance OMIM:109400 PTCH2 8643 HP:0000682 Abnormality of dental enamel OMIM:109400 PTCH2 8643 HP:0000995 Melanocytic nevus OMIM:109400 PTCH2 8643 HP:0005344 Abnormality of the carotid arteries OMIM:109400 PTCH2 8643 HP:0000639 Nystagmus OMIM:109400 PTCH2 8643 HP:0005449 Bridged sella turcica OMIM:109400 PTCH2 8643 HP:0000028 Cryptorchidism OMIM:109400 PTCH2 8643 HP:0010618 Ovarian fibroma OMIM:109400 PTCH2 8643 HP:0000098 Tall stature OMIM:109400 PTCH2 8643 HP:0000912 Sprengel anomaly OMIM:109400 PTCH2 8643 HP:0000568 Microphthalmos OMIM:109400 PTCH2 8643 HP:0001163 Abnormality of the metacarpal bones OMIM:109400 PTCH2 8643 HP:0002072 Chorea OMIM:616139 GRIN2B 2904 HP:0200134 Epileptic encephalopathy OMIM:616139 GRIN2B 2904 HP:0001249 Intellectual disability OMIM:616139 GRIN2B 2904 HP:0001263 Global developmental delay OMIM:616139 GRIN2B 2904 HP:0001344 Absent speech OMIM:616139 GRIN2B 2904 HP:0001252 Muscular hypotonia OMIM:616139 GRIN2B 2904 HP:0001250 Seizures OMIM:231680 ETFDH 2110 HP:0003530 Glutaric acidemia OMIM:231680 ETFDH 2110 HP:0000803 Renal cortical cysts OMIM:231680 ETFDH 2110 HP:0002614 Hepatic periportal necrosis OMIM:231680 ETFDH 2110 HP:0003647 Electron transfer flavoprotein-ubiquinone oxidoreductase defect OMIM:231680 ETFDH 2110 HP:0002013 Vomiting OMIM:231680 ETFDH 2110 HP:0000377 Abnormality of the pinna OMIM:231680 ETFDH 2110 HP:0000078 Abnormality of the genital system OMIM:231680 ETFDH 2110 HP:0002089 Pulmonary hypoplasia OMIM:231680 ETFDH 2110 HP:0002018 Nausea OMIM:231680 ETFDH 2110 HP:0001252 Muscular hypotonia OMIM:231680 ETFDH 2110 HP:0000348 High forehead OMIM:231680 ETFDH 2110 HP:0001325 Hypoglycemic coma OMIM:231680 ETFDH 2110 HP:0003490 Defective dehydrogenation of isovaleryl CoA and butyryl CoA OMIM:231680 ETFDH 2110 HP:0000506 Telecanthus OMIM:231680 ETFDH 2110 HP:0001324 Muscle weakness OMIM:231680 ETFDH 2110 HP:0000260 Wide anterior fontanel OMIM:231680 ETFDH 2110 HP:0000114 Proximal tubulopathy OMIM:231680 ETFDH 2110 HP:0000952 Jaundice OMIM:231680 ETFDH 2110 HP:0001943 Hypoglycemia OMIM:231680 ETFDH 2110 HP:0002171 Gliosis OMIM:231680 ETFDH 2110 HP:0002240 Hepatomegaly OMIM:231680 ETFDH 2110 HP:0000113 Polycystic kidney dysplasia OMIM:231680 ETFDH 2110 HP:0001999 Abnormal facial shape OMIM:231680 ETFDH 2110 HP:0003150 Glutaric aciduria OMIM:231680 ETFDH 2110 HP:0000007 Autosomal recessive inheritance OMIM:231680 ETFDH 2110 HP:0002909 Generalized aminoaciduria OMIM:231680 ETFDH 2110 HP:0001302 Pachygyria OMIM:231680 ETFDH 2110 HP:0002098 Respiratory distress OMIM:231680 ETFDH 2110 HP:0003811 Neonatal death OMIM:231680 ETFDH 2110 HP:0000256 Macrocephaly OMIM:231680 ETFDH 2110 HP:0005280 Depressed nasal bridge OMIM:231680 ETFDH 2110 HP:0001397 Hepatic steatosis OMIM:231680 ETFDH 2110 HP:0003076 Glycosuria OMIM:231680 ETFDH 2110 HP:0003219 Ethylmalonic aciduria OMIM:231680 ETFDH 2110 HP:0000519 Congenital cataract OMIM:231680 ETFB 2109 HP:0003530 Glutaric acidemia OMIM:231680 ETFB 2109 HP:0000803 Renal cortical cysts OMIM:231680 ETFB 2109 HP:0002614 Hepatic periportal necrosis OMIM:231680 ETFB 2109 HP:0003647 Electron transfer flavoprotein-ubiquinone oxidoreductase defect OMIM:231680 ETFB 2109 HP:0002013 Vomiting OMIM:231680 ETFB 2109 HP:0000377 Abnormality of the pinna OMIM:231680 ETFB 2109 HP:0000078 Abnormality of the genital system OMIM:231680 ETFB 2109 HP:0002089 Pulmonary hypoplasia OMIM:231680 ETFB 2109 HP:0002018 Nausea OMIM:231680 ETFB 2109 HP:0001252 Muscular hypotonia OMIM:231680 ETFB 2109 HP:0000348 High forehead OMIM:231680 ETFB 2109 HP:0001325 Hypoglycemic coma OMIM:231680 ETFB 2109 HP:0003490 Defective dehydrogenation of isovaleryl CoA and butyryl CoA OMIM:231680 ETFB 2109 HP:0000506 Telecanthus OMIM:231680 ETFB 2109 HP:0001324 Muscle weakness OMIM:231680 ETFB 2109 HP:0000260 Wide anterior fontanel OMIM:231680 ETFB 2109 HP:0000114 Proximal tubulopathy OMIM:231680 ETFB 2109 HP:0000952 Jaundice OMIM:231680 ETFB 2109 HP:0001943 Hypoglycemia OMIM:231680 ETFB 2109 HP:0002171 Gliosis OMIM:231680 ETFB 2109 HP:0002240 Hepatomegaly OMIM:231680 ETFB 2109 HP:0000113 Polycystic kidney dysplasia OMIM:231680 ETFB 2109 HP:0001999 Abnormal facial shape OMIM:231680 ETFB 2109 HP:0003150 Glutaric aciduria OMIM:231680 ETFB 2109 HP:0000007 Autosomal recessive inheritance OMIM:231680 ETFB 2109 HP:0002909 Generalized aminoaciduria OMIM:231680 ETFB 2109 HP:0001302 Pachygyria OMIM:231680 ETFB 2109 HP:0002098 Respiratory distress OMIM:231680 ETFB 2109 HP:0003811 Neonatal death OMIM:231680 ETFB 2109 HP:0000256 Macrocephaly OMIM:231680 ETFB 2109 HP:0005280 Depressed nasal bridge OMIM:231680 ETFB 2109 HP:0001397 Hepatic steatosis OMIM:231680 ETFB 2109 HP:0003076 Glycosuria OMIM:231680 ETFB 2109 HP:0003219 Ethylmalonic aciduria OMIM:231680 ETFB 2109 HP:0000519 Congenital cataract OMIM:231680 ETFA 2108 HP:0003530 Glutaric acidemia OMIM:231680 ETFA 2108 HP:0000803 Renal cortical cysts OMIM:231680 ETFA 2108 HP:0002614 Hepatic periportal necrosis OMIM:231680 ETFA 2108 HP:0003647 Electron transfer flavoprotein-ubiquinone oxidoreductase defect OMIM:231680 ETFA 2108 HP:0002013 Vomiting OMIM:231680 ETFA 2108 HP:0000377 Abnormality of the pinna OMIM:231680 ETFA 2108 HP:0000078 Abnormality of the genital system OMIM:231680 ETFA 2108 HP:0002089 Pulmonary hypoplasia OMIM:231680 ETFA 2108 HP:0002018 Nausea OMIM:231680 ETFA 2108 HP:0001252 Muscular hypotonia OMIM:231680 ETFA 2108 HP:0000348 High forehead OMIM:231680 ETFA 2108 HP:0001325 Hypoglycemic coma OMIM:231680 ETFA 2108 HP:0003490 Defective dehydrogenation of isovaleryl CoA and butyryl CoA OMIM:231680 ETFA 2108 HP:0000506 Telecanthus OMIM:231680 ETFA 2108 HP:0001324 Muscle weakness OMIM:231680 ETFA 2108 HP:0000260 Wide anterior fontanel OMIM:231680 ETFA 2108 HP:0000114 Proximal tubulopathy OMIM:231680 ETFA 2108 HP:0000952 Jaundice OMIM:231680 ETFA 2108 HP:0001943 Hypoglycemia OMIM:231680 ETFA 2108 HP:0002171 Gliosis OMIM:231680 ETFA 2108 HP:0002240 Hepatomegaly OMIM:231680 ETFA 2108 HP:0000113 Polycystic kidney dysplasia OMIM:231680 ETFA 2108 HP:0001999 Abnormal facial shape OMIM:231680 ETFA 2108 HP:0003150 Glutaric aciduria OMIM:231680 ETFA 2108 HP:0000007 Autosomal recessive inheritance OMIM:231680 ETFA 2108 HP:0002909 Generalized aminoaciduria OMIM:231680 ETFA 2108 HP:0001302 Pachygyria OMIM:231680 ETFA 2108 HP:0002098 Respiratory distress OMIM:231680 ETFA 2108 HP:0003811 Neonatal death OMIM:231680 ETFA 2108 HP:0000256 Macrocephaly OMIM:231680 ETFA 2108 HP:0005280 Depressed nasal bridge OMIM:231680 ETFA 2108 HP:0001397 Hepatic steatosis OMIM:231680 ETFA 2108 HP:0003076 Glycosuria OMIM:231680 ETFA 2108 HP:0003219 Ethylmalonic aciduria OMIM:231680 ETFA 2108 HP:0000519 Congenital cataract OMIM:615287 B4GAT1 11041 HP:0002365 Hypoplasia of the brainstem OMIM:615287 B4GAT1 11041 HP:0007973 Retinal dysplasia OMIM:615287 B4GAT1 11041 HP:0003577 Congenital onset OMIM:615287 B4GAT1 11041 HP:0000110 Renal dysplasia OMIM:615287 B4GAT1 11041 HP:0001321 Cerebellar hypoplasia OMIM:615287 B4GAT1 11041 HP:0002539 Cortical dysplasia OMIM:615287 B4GAT1 11041 HP:0000007 Autosomal recessive inheritance OMIM:615287 B4GAT1 11041 HP:0001274 Agenesis of corpus callosum OMIM:615287 B4GAT1 11041 HP:0008734 Decreased testicular size OMIM:615287 B4GAT1 11041 HP:0001263 Global developmental delay OMIM:615287 B4GAT1 11041 HP:0001250 Seizures OMIM:615287 B4GAT1 11041 HP:0001305 Dandy-Walker malformation OMIM:615287 B4GAT1 11041 HP:0003560 Muscular dystrophy OMIM:615287 B4GAT1 11041 HP:0000238 Hydrocephalus OMIM:615287 B4GAT1 11041 HP:0003236 Elevated serum creatine phosphokinase OMIM:615287 B4GAT1 11041 HP:0006829 Severe muscular hypotonia OMIM:615287 B4GAT1 11041 HP:0000107 Renal cyst OMIM:615287 B4GAT1 11041 HP:0007260 Type II lissencephaly OMIM:615524 RARB 5915 HP:0000006 Autosomal dominant inheritance OMIM:615524 RARB 5915 HP:0000455 Broad nasal tip OMIM:615524 RARB 5915 HP:0000028 Cryptorchidism OMIM:615524 RARB 5915 HP:0001249 Intellectual disability OMIM:615524 RARB 5915 HP:0001629 Ventricular septal defect OMIM:615524 RARB 5915 HP:0000431 Wide nasal bridge OMIM:615524 RARB 5915 HP:0000776 Congenital diaphragmatic hernia OMIM:615524 RARB 5915 HP:0002089 Pulmonary hypoplasia OMIM:615524 RARB 5915 HP:0000528 Anophthalmia OMIM:615524 RARB 5915 HP:0000568 Microphthalmos OMIM:615524 RARB 5915 HP:0000813 Bicornuate uterus OMIM:615524 RARB 5915 HP:0000278 Retrognathia OMIM:615524 RARB 5915 HP:0005156 Hypoplastic left atrium OMIM:615524 RARB 5915 HP:0000347 Micrognathia OMIM:612119 TREH 11181 HP:0000007 Autosomal recessive inheritance OMIM:612119 TREH 11181 HP:0002014 Diarrhea OMIM:615122 CD27 939 HP:0001915 Aplastic anemia OMIM:615122 CD27 939 HP:0000007 Autosomal recessive inheritance OMIM:615122 CD27 939 HP:0002665 Lymphoma OMIM:615122 CD27 939 HP:0005523 Lymphoproliferative disorder OMIM:615122 CD27 939 HP:0004313 Hypogammaglobulinemia OMIM:615122 CD27 939 HP:0002240 Hepatomegaly OMIM:615122 CD27 939 HP:0002716 Lymphadenopathy OMIM:615122 CD27 939 HP:0001744 Splenomegaly OMIM:615122 CD27 939 HP:0001541 Ascites OMIM:615122 CD27 939 HP:0001945 Fever OMIM:615122 CD27 939 HP:0012156 Hemophagocytosis OMIM:615122 CD27 939 HP:0003828 Variable expressivity OMIM:615184 CRYAB 1410 HP:0001653 Mitral regurgitation OMIM:615184 CRYAB 1410 HP:0000006 Autosomal dominant inheritance OMIM:615184 CRYAB 1410 HP:0001644 Dilated cardiomyopathy OMIM:265100 SLC34A2 10568 HP:0003677 Slow progression OMIM:265100 SLC34A2 10568 HP:0003674 Onset OMIM:265100 SLC34A2 10568 HP:0002111 Restrictive respiratory insufficiency OMIM:265100 SLC34A2 10568 HP:0006514 Intraalveolar nodular calcifications OMIM:265100 SLC34A2 10568 HP:0006520 Progressive pulmonary function impairment OMIM:265100 SLC34A2 10568 HP:0000007 Autosomal recessive inheritance OMIM:613767 CNGB1 1258 HP:0007994 Peripheral visual field loss OMIM:613767 CNGB1 1258 HP:0000662 Night blindness OMIM:613767 CNGB1 1258 HP:0000007 Autosomal recessive inheritance OMIM:613767 CNGB1 1258 HP:0007737 Bony spicule pigmentary retinopathy OMIM:613767 CNGB1 1258 HP:0000510 Retinitis pigmentosa OMIM:607236 PANK2 80025 HP:0003621 Juvenile onset OMIM:607236 PANK2 80025 HP:0003677 Slow progression OMIM:607236 PANK2 80025 HP:0001260 Dysarthria OMIM:607236 PANK2 80025 HP:0001927 Acanthocytosis OMIM:607236 PANK2 80025 HP:0001332 Dystonia OMIM:607236 PANK2 80025 HP:0002310 Orofacial dyskinesia OMIM:607236 PANK2 80025 HP:0002015 Dysphagia OMIM:607236 PANK2 80025 HP:0007132 Pallidal degeneration OMIM:607236 PANK2 80025 HP:0001257 Spasticity OMIM:607236 PANK2 80025 HP:0002454 Eye of the tiger anomaly of globus pallidus OMIM:607236 PANK2 80025 HP:0000007 Autosomal recessive inheritance OMIM:607236 PANK2 80025 HP:0000510 Retinitis pigmentosa OMIM:607236 PANK2 80025 HP:0003563 Hypobetalipoproteinemia OMIM:607236 PANK2 80025 HP:0000726 Dementia OMIM:202300 TP53 7157 HP:0006744 Adrenocortical carcinoma OMIM:202300 TP53 7157 HP:0000007 Autosomal recessive inheritance OMIM:614462 LIAS 11019 HP:0001250 Seizures OMIM:614462 LIAS 11019 HP:0002510 Spastic tetraplegia OMIM:614462 LIAS 11019 HP:0000007 Autosomal recessive inheritance OMIM:614462 LIAS 11019 HP:0000252 Microcephaly OMIM:614462 LIAS 11019 HP:0002093 Respiratory insufficiency OMIM:614462 LIAS 11019 HP:0001510 Growth delay OMIM:614462 LIAS 11019 HP:0003128 Lactic acidosis OMIM:614462 LIAS 11019 HP:0001298 Encephalopathy OMIM:614462 LIAS 11019 HP:0001639 Hypertrophic cardiomyopathy OMIM:614462 LIAS 11019 HP:0002151 Increased serum lactate OMIM:614462 LIAS 11019 HP:0011344 Severe global developmental delay OMIM:614462 LIAS 11019 HP:0002360 Sleep disturbance OMIM:614462 LIAS 11019 HP:0001371 Flexion contracture OMIM:614462 LIAS 11019 HP:0002104 Apnea OMIM:614462 LIAS 11019 HP:0001270 Motor delay OMIM:614462 LIAS 11019 HP:0011968 Feeding difficulties OMIM:614462 LIAS 11019 HP:0001252 Muscular hypotonia ORPHANET:261190 MEIS2 4212 HP:0000444 Convex nasal ridge ORPHANET:261190 MEIS2 4212 HP:0000426 Prominent nasal bridge ORPHANET:261190 MEIS2 4212 HP:0000252 Microcephaly ORPHANET:261190 MEIS2 4212 HP:0002808 Kyphosis ORPHANET:261190 MEIS2 4212 HP:0001061 Acne ORPHANET:261190 MEIS2 4212 HP:0100543 Cognitive impairment ORPHANET:261190 MEIS2 4212 HP:0001601 Laryngomalacia ORPHANET:261190 MEIS2 4212 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:261190 MEIS2 4212 HP:0000717 Autism ORPHANET:261190 MEIS2 4212 HP:0010978 Abnormality of immune system physiology ORPHANET:261190 MEIS2 4212 HP:0001629 Ventricular septal defect ORPHANET:261190 MEIS2 4212 HP:0002650 Scoliosis ORPHANET:261190 MEIS2 4212 HP:0004299 Hernia of the abdominal wall ORPHANET:261190 MEIS2 4212 HP:0001631 Defect in the atrial septum ORPHANET:261190 MEIS2 4212 HP:0000322 Short philtrum ORPHANET:261190 MEIS2 4212 HP:0000343 Long philtrum ORPHANET:261190 MEIS2 4212 HP:0000164 Abnormality of the teeth ORPHANET:261190 MEIS2 4212 HP:0000276 Long face ORPHANET:261190 MEIS2 4212 HP:0000341 Narrow forehead ORPHANET:261190 MEIS2 4212 HP:0002167 Neurological speech impairment ORPHANET:261190 MEIS2 4212 HP:0000307 Pointed chin ORPHANET:261190 MEIS2 4212 HP:0000490 Deeply set eye ORPHANET:261190 MEIS2 4212 HP:0001250 Seizures ORPHANET:261190 MEIS2 4212 HP:0000175 Cleft palate ORPHANET:261190 MEIS2 4212 HP:0004322 Short stature OMIM:615833 NECAP1 25977 HP:0200134 Epileptic encephalopathy OMIM:615833 NECAP1 25977 HP:0001263 Global developmental delay OMIM:615833 NECAP1 25977 HP:0001558 Decreased fetal movement OMIM:615833 NECAP1 25977 HP:0011968 Feeding difficulties OMIM:615833 NECAP1 25977 HP:0008936 Muscular hypotonia of the trunk ORPHANET:701 HR 55806 HP:0001596 Alopecia ORPHANET:701 HR 55806 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:701 HR 55806 HP:0000499 Abnormality of the eyelashes OMIM:609054 BRIP1 83990 HP:0000568 Microphthalmos OMIM:609054 BRIP1 83990 HP:0000007 Autosomal recessive inheritance OMIM:609054 BRIP1 83990 HP:0007565 Multiple cafe-au-lait spots OMIM:609054 BRIP1 83990 HP:0008897 Postnatal growth retardation OMIM:609054 BRIP1 83990 HP:0001263 Global developmental delay OMIM:609054 BRIP1 83990 HP:0001511 Intrauterine growth retardation OMIM:609054 BRIP1 83990 HP:0005528 Bone marrow hypocellularity OMIM:609054 BRIP1 83990 HP:0009778 Short thumb OMIM:609054 BRIP1 83990 HP:0003221 Chromosomal breakage induced by crosslinking agents OMIM:615578 SFXN4 119559 HP:0003128 Lactic acidosis OMIM:615578 SFXN4 119559 HP:0001337 Tremor OMIM:615578 SFXN4 119559 HP:0001310 Dysmetria OMIM:615578 SFXN4 119559 HP:0001252 Muscular hypotonia OMIM:615578 SFXN4 119559 HP:0003202 Skeletal muscle atrophy OMIM:615578 SFXN4 119559 HP:0001511 Intrauterine growth retardation OMIM:615578 SFXN4 119559 HP:0000007 Autosomal recessive inheritance OMIM:615578 SFXN4 119559 HP:0001249 Intellectual disability OMIM:615578 SFXN4 119559 HP:0000505 Visual impairment OMIM:615578 SFXN4 119559 HP:0003828 Variable expressivity OMIM:615578 SFXN4 119559 HP:0000750 Delayed speech and language development OMIM:615578 SFXN4 119559 HP:0002151 Increased serum lactate OMIM:615578 SFXN4 119559 HP:0001972 Macrocytic anemia OMIM:611879 TNNC1 7134 HP:0000006 Autosomal dominant inheritance OMIM:611879 TNNC1 7134 HP:0001644 Dilated cardiomyopathy OMIM:253200 ARSB 411 HP:0000158 Macroglossia OMIM:253200 ARSB 411 HP:0100543 Cognitive impairment OMIM:253200 ARSB 411 HP:0000943 Dysostosis multiplex OMIM:253200 ARSB 411 HP:0000179 Thick lower lip vermilion OMIM:253200 ARSB 411 HP:0002788 Recurrent upper respiratory tract infections OMIM:253200 ARSB 411 HP:0008155 Mucopolysacchariduria OMIM:253200 ARSB 411 HP:0003521 Disproportionate short-trunk short stature OMIM:253200 ARSB 411 HP:0001638 Cardiomyopathy OMIM:253200 ARSB 411 HP:0000238 Hydrocephalus OMIM:253200 ARSB 411 HP:0007759 Opacification of the corneal stroma OMIM:253200 ARSB 411 HP:0001654 Abnormality of the heart valves OMIM:253200 ARSB 411 HP:0002808 Kyphosis OMIM:253200 ARSB 411 HP:0002857 Genu valgum OMIM:253200 ARSB 411 HP:0000007 Autosomal recessive inheritance OMIM:253200 ARSB 411 HP:0000501 Glaucoma OMIM:253200 ARSB 411 HP:0002869 Flared iliac wings OMIM:253200 ARSB 411 HP:0001385 Hip dysplasia OMIM:253200 ARSB 411 HP:0000388 Otitis media OMIM:253200 ARSB 411 HP:0002866 Hypoplastic iliac wing OMIM:253200 ARSB 411 HP:0004322 Short stature OMIM:253200 ARSB 411 HP:0000256 Macrocephaly OMIM:253200 ARSB 411 HP:0000268 Dolichocephaly OMIM:253200 ARSB 411 HP:0000884 Prominent sternum OMIM:253200 ARSB 411 HP:0003300 Ovoid vertebral bodies OMIM:253200 ARSB 411 HP:0008432 Anterior wedging of L1 OMIM:253200 ARSB 411 HP:0003025 Metaphyseal irregularity OMIM:253200 ARSB 411 HP:0002240 Hepatomegaly OMIM:253200 ARSB 411 HP:0002318 Cervical myelopathy OMIM:253200 ARSB 411 HP:0001744 Splenomegaly OMIM:253200 ARSB 411 HP:0005280 Depressed nasal bridge OMIM:253200 ARSB 411 HP:0000246 Sinusitis OMIM:253200 ARSB 411 HP:0000772 Abnormality of the ribs OMIM:253200 ARSB 411 HP:0002938 Lumbar hyperlordosis OMIM:253200 ARSB 411 HP:0008301 Dermatan sulfate excretion in urine OMIM:253200 ARSB 411 HP:0001007 Hirsutism OMIM:253200 ARSB 411 HP:0000365 Hearing impairment OMIM:253200 ARSB 411 HP:0001537 Umbilical hernia OMIM:253200 ARSB 411 HP:0005930 Abnormality of epiphysis morphology OMIM:253200 ARSB 411 HP:0003274 Hypoplastic acetabulae OMIM:253200 ARSB 411 HP:0000505 Visual impairment OMIM:253200 ARSB 411 HP:0001171 Split hand OMIM:253200 ARSB 411 HP:0002656 Epiphyseal dysplasia OMIM:253200 ARSB 411 HP:0011941 Anterior wedging of L2 OMIM:253200 ARSB 411 HP:0001387 Joint stiffness OMIM:253200 ARSB 411 HP:0000429 Abnormality of the nasal alae OMIM:253200 ARSB 411 HP:0001376 Limitation of joint mobility OMIM:253200 ARSB 411 HP:0000470 Short neck OMIM:253200 ARSB 411 HP:0100790 Hernia OMIM:253200 ARSB 411 HP:0000885 Broad ribs OMIM:253200 ARSB 411 HP:0003016 Metaphyseal widening OMIM:253200 ARSB 411 HP:0003311 Hypoplasia of the odontoid process OMIM:253200 ARSB 411 HP:0000280 Coarse facial features OMIM:253200 ARSB 411 HP:0000023 Inguinal hernia OMIM:253200 ARSB 411 HP:0000157 Abnormality of the tongue OMIM:614067 AP4S1 11154 HP:0004322 Short stature OMIM:614067 AP4S1 11154 HP:0006957 Loss of ability to walk OMIM:614067 AP4S1 11154 HP:0000154 Wide mouth OMIM:614067 AP4S1 11154 HP:0000414 Bulbous nose OMIM:614067 AP4S1 11154 HP:0100021 Cerebral palsy OMIM:614067 AP4S1 11154 HP:0001263 Global developmental delay OMIM:614067 AP4S1 11154 HP:0000007 Autosomal recessive inheritance OMIM:614067 AP4S1 11154 HP:0000280 Coarse facial features OMIM:614067 AP4S1 11154 HP:0001347 Hyperreflexia OMIM:614067 AP4S1 11154 HP:0010864 Intellectual disability, severe OMIM:614067 AP4S1 11154 HP:0001258 Spastic paraplegia OMIM:614067 AP4S1 11154 HP:0001762 Talipes equinovarus OMIM:614067 AP4S1 11154 HP:0003487 Babinski sign OMIM:614067 AP4S1 11154 HP:0000252 Microcephaly OMIM:614067 AP4S1 11154 HP:0000448 Prominent nose OMIM:614067 AP4S1 11154 HP:0001371 Flexion contracture OMIM:614067 AP4S1 11154 HP:0003577 Congenital onset ORPHANET:55654 RPL21 6144 HP:0000989 Pruritus ORPHANET:55654 RPL21 6144 HP:0000962 Hyperkeratosis ORPHANET:55654 RPL21 6144 HP:0001596 Alopecia ORPHANET:55654 RPL21 6144 HP:0000499 Abnormality of the eyelashes ORPHANET:55654 RPL21 6144 HP:0002224 Woolly hair ORPHANET:55654 RPL21 6144 HP:0004540 Congenital, generalized hypertrichosis ORPHANET:55654 RPL21 6144 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:55654 DSG4 147409 HP:0000989 Pruritus ORPHANET:55654 DSG4 147409 HP:0000962 Hyperkeratosis ORPHANET:55654 DSG4 147409 HP:0001596 Alopecia ORPHANET:55654 DSG4 147409 HP:0000499 Abnormality of the eyelashes ORPHANET:55654 DSG4 147409 HP:0002224 Woolly hair ORPHANET:55654 DSG4 147409 HP:0004540 Congenital, generalized hypertrichosis ORPHANET:55654 DSG4 147409 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:55654 APCDD1 147495 HP:0000989 Pruritus ORPHANET:55654 APCDD1 147495 HP:0000962 Hyperkeratosis ORPHANET:55654 APCDD1 147495 HP:0001596 Alopecia ORPHANET:55654 APCDD1 147495 HP:0000499 Abnormality of the eyelashes ORPHANET:55654 APCDD1 147495 HP:0002224 Woolly hair ORPHANET:55654 APCDD1 147495 HP:0004540 Congenital, generalized hypertrichosis ORPHANET:55654 APCDD1 147495 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:55654 LIPH 200879 HP:0000989 Pruritus ORPHANET:55654 LIPH 200879 HP:0000962 Hyperkeratosis ORPHANET:55654 LIPH 200879 HP:0001596 Alopecia ORPHANET:55654 LIPH 200879 HP:0000499 Abnormality of the eyelashes ORPHANET:55654 LIPH 200879 HP:0002224 Woolly hair ORPHANET:55654 LIPH 200879 HP:0004540 Congenital, generalized hypertrichosis ORPHANET:55654 LIPH 200879 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:55654 SNRPE 6635 HP:0000989 Pruritus ORPHANET:55654 SNRPE 6635 HP:0000962 Hyperkeratosis ORPHANET:55654 SNRPE 6635 HP:0001596 Alopecia ORPHANET:55654 SNRPE 6635 HP:0000499 Abnormality of the eyelashes ORPHANET:55654 SNRPE 6635 HP:0002224 Woolly hair ORPHANET:55654 SNRPE 6635 HP:0004540 Congenital, generalized hypertrichosis ORPHANET:55654 SNRPE 6635 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:55654 LPAR6 10161 HP:0000989 Pruritus ORPHANET:55654 LPAR6 10161 HP:0000962 Hyperkeratosis ORPHANET:55654 LPAR6 10161 HP:0001596 Alopecia ORPHANET:55654 LPAR6 10161 HP:0000499 Abnormality of the eyelashes ORPHANET:55654 LPAR6 10161 HP:0002224 Woolly hair ORPHANET:55654 LPAR6 10161 HP:0004540 Congenital, generalized hypertrichosis ORPHANET:55654 LPAR6 10161 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:116800 HSF4 3299 HP:0010920 Zonular cataract OMIM:116800 HSF4 3299 HP:0001134 Anterior polar cataract OMIM:116800 HSF4 3299 HP:0007971 Lamellar cataract OMIM:116800 HSF4 3299 HP:0000006 Autosomal dominant inheritance OMIM:116800 HSF4 3299 HP:0001167 Abnormality of finger OMIM:116800 HSF4 3299 HP:0100018 Nuclear cataract OMIM:116800 HSF4 3299 HP:0010693 Pulverulent Cataract OMIM:613161 UPB1 51733 HP:0001332 Dystonia OMIM:613161 UPB1 51733 HP:0002023 Anal atresia OMIM:613161 UPB1 51733 HP:0002521 Hypsarrhythmia OMIM:613161 UPB1 51733 HP:0000252 Microcephaly OMIM:613161 UPB1 51733 HP:0001249 Intellectual disability OMIM:613161 UPB1 51733 HP:0003593 Infantile onset OMIM:613161 UPB1 51733 HP:0002167 Neurological speech impairment OMIM:613161 UPB1 51733 HP:0002650 Scoliosis OMIM:613161 UPB1 51733 HP:0000007 Autosomal recessive inheritance OMIM:613161 UPB1 51733 HP:0002133 Status epilepticus OMIM:613161 UPB1 51733 HP:0002836 Bladder exstrophy OMIM:613161 UPB1 51733 HP:0000048 Bifid scrotum OMIM:613161 UPB1 51733 HP:0002188 Delayed CNS myelination OMIM:613161 UPB1 51733 HP:0001319 Neonatal hypotonia OMIM:137760 OPTN 10133 HP:0012108 Primary open angle glaucoma OMIM:137760 OPTN 10133 HP:0000006 Autosomal dominant inheritance OMIM:137760 OPTN 10133 HP:0000545 Myopia OMIM:607330 SC5D 6309 HP:0001249 Intellectual disability OMIM:607330 SC5D 6309 HP:0200133 Lumbosacral meningocele OMIM:607330 SC5D 6309 HP:0001927 Acanthocytosis OMIM:607330 SC5D 6309 HP:0000343 Long philtrum OMIM:607330 SC5D 6309 HP:0002475 Myelomeningocele OMIM:607330 SC5D 6309 HP:0000463 Anteverted nares OMIM:607330 SC5D 6309 HP:0000007 Autosomal recessive inheritance OMIM:607330 SC5D 6309 HP:0001399 Hepatic failure OMIM:607330 SC5D 6309 HP:0000215 Thick upper lip vermilion OMIM:607330 SC5D 6309 HP:0002904 Hyperbilirubinemia OMIM:607330 SC5D 6309 HP:0001770 Toe syndactyly OMIM:607330 SC5D 6309 HP:0000431 Wide nasal bridge OMIM:607330 SC5D 6309 HP:0000347 Micrognathia OMIM:607330 SC5D 6309 HP:0001162 Postaxial hand polydactyly OMIM:607330 SC5D 6309 HP:0001981 Schistocytosis OMIM:607330 SC5D 6309 HP:0001873 Thrombocytopenia OMIM:607330 SC5D 6309 HP:0005608 Bilobate gallbladder OMIM:607330 SC5D 6309 HP:0001250 Seizures OMIM:607330 SC5D 6309 HP:0000482 Microcornea OMIM:607330 SC5D 6309 HP:0001511 Intrauterine growth retardation OMIM:607330 SC5D 6309 HP:0003609 Foam cells with lamellar inclusion bodies OMIM:607330 SC5D 6309 HP:0001830 Postaxial foot polydactyly OMIM:607330 SC5D 6309 HP:0003155 Elevated alkaline phosphatase OMIM:607330 SC5D 6309 HP:0000494 Downslanted palpebral fissures OMIM:607330 SC5D 6309 HP:0100542 Abnormal localization of kidney OMIM:607330 SC5D 6309 HP:0000212 Gingival overgrowth OMIM:607330 SC5D 6309 HP:0007759 Opacification of the corneal stroma OMIM:607330 SC5D 6309 HP:0000341 Narrow forehead OMIM:607330 SC5D 6309 HP:0001762 Talipes equinovarus OMIM:607330 SC5D 6309 HP:0001433 Hepatosplenomegaly OMIM:607330 SC5D 6309 HP:0004823 Anisopoikilocytosis OMIM:607330 SC5D 6309 HP:0002756 Pathologic fracture OMIM:607330 SC5D 6309 HP:0000286 Epicanthus OMIM:607330 SC5D 6309 HP:0003196 Short nose OMIM:607330 SC5D 6309 HP:0000252 Microcephaly OMIM:607330 SC5D 6309 HP:0001406 Intrahepatic cholestasis OMIM:607330 SC5D 6309 HP:0000518 Cataract OMIM:607330 SC5D 6309 HP:0002435 Meningocele OMIM:607330 SC5D 6309 HP:0000508 Ptosis OMIM:607330 SC5D 6309 HP:0000218 High palate OMIM:607330 SC5D 6309 HP:0005487 Prominent metopic ridge OMIM:607330 SC5D 6309 HP:0001510 Growth delay OMIM:607330 SC5D 6309 HP:0008736 Hypoplasia of penis OMIM:607330 SC5D 6309 HP:0011877 Increased mean platelet volume OMIM:607330 SC5D 6309 HP:0002308 Arnold-Chiari malformation OMIM:607330 SC5D 6309 HP:0000174 Abnormality of the palate OMIM:607330 SC5D 6309 HP:0000033 Ambiguous genitalia, male OMIM:607330 SC5D 6309 HP:0001252 Muscular hypotonia OMIM:607330 SC5D 6309 HP:0003316 Butterfly vertebrae OMIM:607330 SC5D 6309 HP:0001877 Abnormality of erythrocytes OMIM:607330 SC5D 6309 HP:0000405 Conductive hearing impairment OMIM:607330 SC5D 6309 HP:0000340 Sloping forehead OMIM:607330 SC5D 6309 HP:0002910 Elevated hepatic transaminases OMIM:607330 SC5D 6309 HP:0000939 Osteoporosis OMIM:607330 SC5D 6309 HP:0001883 Talipes OMIM:607330 SC5D 6309 HP:0100543 Cognitive impairment OMIM:607330 SC5D 6309 HP:0002120 Cerebral cortical atrophy OMIM:607330 SC5D 6309 HP:0004305 Involuntary movements OMIM:607330 SC5D 6309 HP:0000085 Horseshoe kidney OMIM:607330 SC5D 6309 HP:0002240 Hepatomegaly OMIM:607330 SC5D 6309 HP:0002059 Cerebral atrophy OMIM:607330 SC5D 6309 HP:0002714 Downturned corners of mouth OMIM:607330 SC5D 6309 HP:0003107 Abnormality of cholesterol metabolism OMIM:607330 SC5D 6309 HP:0000233 Thin vermilion border OMIM:607330 SC5D 6309 HP:0000365 Hearing impairment OMIM:607330 SC5D 6309 HP:0002514 Cerebral calcification OMIM:607330 SC5D 6309 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:168829 BRCA1 672 HP:0002585 Abnormality of the peritoneum ORPHANET:168829 BRCA1 672 HP:0100615 Ovarian neoplasm ORPHANET:168829 BRCA1 672 HP:0004298 Abnormality of the abdominal wall ORPHANET:168829 BRCA1 672 HP:0002019 Constipation ORPHANET:168829 BRCA1 672 HP:0001824 Weight loss ORPHANET:168829 BRCA1 672 HP:0002017 Nausea and vomiting ORPHANET:168829 BRCA1 672 HP:0002027 Abdominal pain OMIM:259450 FKBP10 60681 HP:0002650 Scoliosis OMIM:259450 FKBP10 60681 HP:0001388 Joint laxity OMIM:259450 FKBP10 60681 HP:0006466 Ankle contracture OMIM:259450 FKBP10 60681 HP:0000926 Platyspondyly OMIM:259450 FKBP10 60681 HP:0003273 Hip contracture OMIM:259450 FKBP10 60681 HP:0002987 Elbow flexion contracture OMIM:259450 FKBP10 60681 HP:0006380 Knee flexion contracture OMIM:259450 FKBP10 60681 HP:0002659 Increased susceptibility to fractures OMIM:259450 FKBP10 60681 HP:0004322 Short stature OMIM:259450 FKBP10 60681 HP:0000007 Autosomal recessive inheritance OMIM:259450 FKBP10 60681 HP:0001762 Talipes equinovarus OMIM:259450 FKBP10 60681 HP:0002808 Kyphosis OMIM:259450 FKBP10 60681 HP:0002812 Coxa vara OMIM:259450 FKBP10 60681 HP:0000939 Osteoporosis OMIM:259450 FKBP10 60681 HP:0003179 Protrusio acetabuli OMIM:259450 FKBP10 60681 HP:0001059 Pterygium OMIM:259450 FKBP10 60681 HP:0008422 Vertebral wedging OMIM:259450 FKBP10 60681 HP:0000768 Pectus carinatum OMIM:615721 FGF20 26281 HP:0000007 Autosomal recessive inheritance OMIM:615721 FGF20 26281 HP:0002009 Potter facies OMIM:615721 FGF20 26281 HP:0002089 Pulmonary hypoplasia OMIM:615721 FGF20 26281 HP:0001582 Redundant skin OMIM:614042 ACTA2 59 HP:0005111 Dilatation of the ascending aorta OMIM:614042 ACTA2 59 HP:0000006 Autosomal dominant inheritance OMIM:614042 ACTA2 59 HP:0011834 Moyamoya phenomenon OMIM:612247 FGFR3 2261 HP:0100533 Inflammatory abnormality of the eye OMIM:612247 FGFR3 2261 HP:0000520 Proptosis OMIM:612247 FGFR3 2261 HP:0003312 Abnormal form of the vertebral bodies OMIM:612247 FGFR3 2261 HP:0000444 Convex nasal ridge OMIM:612247 FGFR3 2261 HP:0000648 Optic atrophy OMIM:612247 FGFR3 2261 HP:0001156 Brachydactyly syndrome OMIM:612247 FGFR3 2261 HP:0000272 Malar flattening OMIM:612247 FGFR3 2261 HP:0000238 Hydrocephalus OMIM:612247 FGFR3 2261 HP:0000505 Visual impairment OMIM:612247 FGFR3 2261 HP:0000348 High forehead OMIM:612247 FGFR3 2261 HP:0000174 Abnormality of the palate OMIM:612247 FGFR3 2261 HP:0000956 Acanthosis nigricans OMIM:612247 FGFR3 2261 HP:0005107 Abnormality of the sacrum OMIM:612247 FGFR3 2261 HP:0002007 Frontal bossing OMIM:612247 FGFR3 2261 HP:0000453 Choanal atresia OMIM:612247 FGFR3 2261 HP:0000508 Ptosis OMIM:612247 FGFR3 2261 HP:0000316 Hypertelorism OMIM:612247 FGFR3 2261 HP:0000405 Conductive hearing impairment OMIM:612247 FGFR3 2261 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:612247 FGFR3 2261 HP:0001163 Abnormality of the metacarpal bones OMIM:612247 FGFR3 2261 HP:0002076 Migraine OMIM:612247 FGFR3 2261 HP:0000486 Strabismus OMIM:612247 FGFR3 2261 HP:0002516 Increased intracranial pressure OMIM:612247 FGFR3 2261 HP:0002308 Arnold-Chiari malformation OMIM:612247 FGFR3 2261 HP:0002093 Respiratory insufficiency OMIM:227650 FANCA 2175 HP:0009943 Complete duplication of thumb phalanx OMIM:227650 FANCA 2175 HP:0000086 Ectopic kidney OMIM:227650 FANCA 2175 HP:0004322 Short stature OMIM:227650 FANCA 2175 HP:0001000 Abnormality of skin pigmentation OMIM:227650 FANCA 2175 HP:0003221 Chromosomal breakage induced by crosslinking agents OMIM:227650 FANCA 2175 HP:0000252 Microcephaly OMIM:227650 FANCA 2175 HP:0000815 Hypergonadotropic hypogonadism OMIM:227650 FANCA 2175 HP:0003214 Prolonged G2 phase of cell cycle OMIM:227650 FANCA 2175 HP:0001896 Reticulocytopenia OMIM:227650 FANCA 2175 HP:0000568 Microphthalmos OMIM:227650 FANCA 2175 HP:0001876 Pancytopenia OMIM:227650 FANCA 2175 HP:0000085 Horseshoe kidney OMIM:227650 FANCA 2175 HP:0001518 Small for gestational age OMIM:227650 FANCA 2175 HP:0009777 Absent thumb OMIM:227650 FANCA 2175 HP:0000486 Strabismus OMIM:227650 FANCA 2175 HP:0001873 Thrombocytopenia OMIM:227650 FANCA 2175 HP:0000081 Duplicated collecting system OMIM:227650 FANCA 2175 HP:0001903 Anemia OMIM:227650 FANCA 2175 HP:0003974 Absent radius OMIM:227650 FANCA 2175 HP:0001017 Anemic pallor OMIM:227650 FANCA 2175 HP:0000978 Bruising susceptibility OMIM:227650 FANCA 2175 HP:0000365 Hearing impairment OMIM:227650 FANCA 2175 HP:0000104 Renal agenesis OMIM:227650 FANCA 2175 HP:0001909 Leukemia OMIM:227650 FANCA 2175 HP:0003213 Deficient excision of UV-induced pyrimidine dimers in DNA OMIM:227650 FANCA 2175 HP:0009778 Short thumb OMIM:227650 FANCA 2175 HP:0001249 Intellectual disability OMIM:227650 FANCA 2175 HP:0000957 Cafe-au-lait spot OMIM:227650 FANCA 2175 HP:0001875 Neutropenia OMIM:227650 FANCA 2175 HP:0002564 Malformation of the heart and great vessels OMIM:227650 FANCA 2175 HP:0000028 Cryptorchidism OMIM:600972 SLC26A2 1836 HP:0003826 Stillbirth OMIM:600972 SLC26A2 1836 HP:0000463 Anteverted nares OMIM:600972 SLC26A2 1836 HP:0000476 Cystic hygroma OMIM:600972 SLC26A2 1836 HP:0000343 Long philtrum OMIM:600972 SLC26A2 1836 HP:0002983 Micromelia OMIM:600972 SLC26A2 1836 HP:0001883 Talipes OMIM:600972 SLC26A2 1836 HP:0001537 Umbilical hernia OMIM:600972 SLC26A2 1836 HP:0000969 Edema OMIM:600972 SLC26A2 1836 HP:0001789 Hydrops fetalis OMIM:600972 SLC26A2 1836 HP:0004599 Absent or minimally ossified vertebral bodies OMIM:600972 SLC26A2 1836 HP:0004348 Abnormality of bone mineral density OMIM:600972 SLC26A2 1836 HP:0002564 Malformation of the heart and great vessels OMIM:600972 SLC26A2 1836 HP:0001156 Brachydactyly syndrome OMIM:600972 SLC26A2 1836 HP:0000272 Malar flattening OMIM:600972 SLC26A2 1836 HP:0001623 Breech presentation OMIM:600972 SLC26A2 1836 HP:0003196 Short nose OMIM:600972 SLC26A2 1836 HP:0002007 Frontal bossing OMIM:600972 SLC26A2 1836 HP:0003270 Abdominal distention OMIM:600972 SLC26A2 1836 HP:0000774 Narrow chest OMIM:600972 SLC26A2 1836 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:600972 SLC26A2 1836 HP:0000007 Autosomal recessive inheritance OMIM:600972 SLC26A2 1836 HP:0000256 Macrocephaly OMIM:600972 SLC26A2 1836 HP:0000946 Hypoplastic ilia OMIM:600972 SLC26A2 1836 HP:0012368 Flat face OMIM:600972 SLC26A2 1836 HP:0000023 Inguinal hernia OMIM:600972 SLC26A2 1836 HP:0002093 Respiratory insufficiency OMIM:600972 SLC26A2 1836 HP:0001831 Short toe OMIM:600972 SLC26A2 1836 HP:0001561 Polyhydramnios OMIM:600972 SLC26A2 1836 HP:0000347 Micrognathia OMIM:600972 SLC26A2 1836 HP:0008921 Neonatal short-limb short stature OMIM:600972 SLC26A2 1836 HP:0000470 Short neck OMIM:600972 SLC26A2 1836 HP:0000772 Abnormality of the ribs OMIM:600972 SLC26A2 1836 HP:0002652 Skeletal dysplasia OMIM:600972 SLC26A2 1836 HP:0004322 Short stature OMIM:600972 SLC26A2 1836 HP:0000474 Thickened nuchal skin fold OMIM:600972 SLC26A2 1836 HP:0010306 Short thorax OMIM:600972 SLC26A2 1836 HP:0000773 Short ribs OMIM:278000 LIPA 3988 HP:0004333 Bone-marrow foam cells OMIM:278000 LIPA 3988 HP:0002612 Congenital hepatic fibrosis OMIM:278000 LIPA 3988 HP:0001538 Protuberant abdomen OMIM:278000 LIPA 3988 HP:0001508 Failure to thrive OMIM:278000 LIPA 3988 HP:0001744 Splenomegaly OMIM:278000 LIPA 3988 HP:0002017 Nausea and vomiting OMIM:278000 LIPA 3988 HP:0000834 Abnormality of the adrenal glands OMIM:278000 LIPA 3988 HP:0001903 Anemia OMIM:278000 LIPA 3988 HP:0100543 Cognitive impairment OMIM:278000 LIPA 3988 HP:0001012 Multiple lipomas OMIM:278000 LIPA 3988 HP:0001395 Hepatic fibrosis OMIM:278000 LIPA 3988 HP:0002024 Malabsorption OMIM:278000 LIPA 3988 HP:0003124 Hypercholesterolemia OMIM:278000 LIPA 3988 HP:0001433 Hepatosplenomegaly OMIM:278000 LIPA 3988 HP:0002013 Vomiting OMIM:278000 LIPA 3988 HP:0002040 Esophageal varix OMIM:278000 LIPA 3988 HP:0001541 Ascites OMIM:278000 LIPA 3988 HP:0001522 Death in infancy OMIM:278000 LIPA 3988 HP:0010512 Adrenal calcification OMIM:278000 LIPA 3988 HP:0002092 Pulmonary hypertension OMIM:278000 LIPA 3988 HP:0001399 Hepatic failure OMIM:278000 LIPA 3988 HP:0002570 Steatorrhea OMIM:278000 LIPA 3988 HP:0001922 Vacuolated lymphocytes OMIM:278000 LIPA 3988 HP:0004372 Reduced consciousness/confusion OMIM:278000 LIPA 3988 HP:0002240 Hepatomegaly OMIM:278000 LIPA 3988 HP:0000007 Autosomal recessive inheritance OMIM:278000 LIPA 3988 HP:0002027 Abdominal pain OMIM:278000 LIPA 3988 HP:0001824 Weight loss OMIM:278000 LIPA 3988 HP:0000962 Hyperkeratosis OMIM:278000 LIPA 3988 HP:0002014 Diarrhea OMIM:278000 LIPA 3988 HP:0000989 Pruritus OMIM:278000 LIPA 3988 HP:0004370 Abnormality of temperature regulation OMIM:278000 LIPA 3988 HP:0002621 Atherosclerosis OMIM:278000 LIPA 3988 HP:0001394 Cirrhosis OMIM:151100 PTPN11 5781 HP:0000122 Unilateral renal agenesis OMIM:151100 PTPN11 5781 HP:0001642 Pulmonic stenosis OMIM:151100 PTPN11 5781 HP:0003691 Scapular winging OMIM:151100 PTPN11 5781 HP:0000175 Cleft palate OMIM:151100 PTPN11 5781 HP:0000767 Pectus excavatum OMIM:151100 PTPN11 5781 HP:0008724 Hypoplasia of the ovary OMIM:151100 PTPN11 5781 HP:0010463 Aplasia of the ovary OMIM:151100 PTPN11 5781 HP:0000369 Low-set ears OMIM:151100 PTPN11 5781 HP:0000768 Pectus carinatum OMIM:151100 PTPN11 5781 HP:0000411 Protruding ear OMIM:151100 PTPN11 5781 HP:0002996 Limited elbow movement OMIM:151100 PTPN11 5781 HP:0003298 Spina bifida occulta OMIM:151100 PTPN11 5781 HP:0000054 Micropenis OMIM:151100 PTPN11 5781 HP:0002967 Cubitus valgus OMIM:151100 PTPN11 5781 HP:0000242 Parietal bossing OMIM:151100 PTPN11 5781 HP:0000823 Delayed puberty OMIM:151100 PTPN11 5781 HP:0000316 Hypertelorism OMIM:151100 PTPN11 5781 HP:0000325 Triangular face OMIM:151100 PTPN11 5781 HP:0000457 Depressed nasal ridge OMIM:151100 PTPN11 5781 HP:0000465 Webbed neck OMIM:151100 PTPN11 5781 HP:0011710 Bundle branch block OMIM:151100 PTPN11 5781 HP:0000047 Hypospadias OMIM:151100 PTPN11 5781 HP:0000508 Ptosis OMIM:151100 PTPN11 5781 HP:0004409 Hyposmia OMIM:151100 PTPN11 5781 HP:0000358 Posteriorly rotated ears OMIM:151100 PTPN11 5781 HP:0000303 Mandibular prognathia OMIM:151100 PTPN11 5781 HP:0002751 Kyphoscoliosis OMIM:151100 PTPN11 5781 HP:0000286 Epicanthus OMIM:151100 PTPN11 5781 HP:0001709 Third degree atrioventricular block OMIM:151100 PTPN11 5781 HP:0000006 Autosomal dominant inheritance OMIM:151100 PTPN11 5781 HP:0000028 Cryptorchidism OMIM:151100 PTPN11 5781 HP:0000486 Strabismus OMIM:151100 PTPN11 5781 HP:0001256 Intellectual disability, mild OMIM:151100 PTPN11 5781 HP:0001003 Multiple lentigines OMIM:151100 PTPN11 5781 HP:0000957 Cafe-au-lait spot OMIM:151100 PTPN11 5781 HP:0000470 Short neck OMIM:151100 PTPN11 5781 HP:0000921 Missing ribs OMIM:151100 PTPN11 5781 HP:0012569 Delayed menarche OMIM:151100 PTPN11 5781 HP:0001639 Hypertrophic cardiomyopathy OMIM:151100 PTPN11 5781 HP:0001682 Subaortic stenosis OMIM:151100 PTPN11 5781 HP:0000407 Sensorineural hearing impairment OMIM:151100 PTPN11 5781 HP:0004322 Short stature OMIM:615067 CCDC114 93233 HP:0000007 Autosomal recessive inheritance OMIM:615067 CCDC114 93233 HP:0012256 Absent outer dynein arms OMIM:615067 CCDC114 93233 HP:0012265 Ciliary dyskinesia OMIM:615067 CCDC114 93233 HP:0000403 Recurrent otitis media OMIM:615067 CCDC114 93233 HP:0100750 Atelectasis OMIM:615067 CCDC114 93233 HP:0011108 Recurrent sinusitis OMIM:615067 CCDC114 93233 HP:0002110 Bronchiectasis OMIM:615067 CCDC114 93233 HP:0001696 Situs inversus totalis OMIM:615067 CCDC114 93233 HP:0012735 Cough OMIM:615067 CCDC114 93233 HP:0200073 Respiratory insufficiency due to defective ciliary clearance OMIM:615067 CCDC114 93233 HP:0006532 Recurrent pneumonia OMIM:180849 CREBBP 1387 HP:0001135 Chorioretinal dystrophy OMIM:180849 CREBBP 1387 HP:0000574 Thick eyebrow OMIM:180849 CREBBP 1387 HP:0002553 Highly arched eyebrow OMIM:180849 CREBBP 1387 HP:0010066 Duplication of phalanx of hallux OMIM:180849 CREBBP 1387 HP:0001249 Intellectual disability OMIM:180849 CREBBP 1387 HP:0001643 Patent ductus arteriosus OMIM:180849 CREBBP 1387 HP:0000756 Agoraphobia OMIM:180849 CREBBP 1387 HP:0000752 Hyperactivity OMIM:180849 CREBBP 1387 HP:0002144 Tethered cord OMIM:180849 CREBBP 1387 HP:0000589 Coloboma OMIM:180849 CREBBP 1387 HP:0008872 Feeding difficulties in infancy OMIM:180849 CREBBP 1387 HP:0000508 Ptosis OMIM:180849 CREBBP 1387 HP:0001250 Seizures OMIM:180849 CREBBP 1387 HP:0009765 Low hanging columella OMIM:180849 CREBBP 1387 HP:0001631 Defect in the atrial septum OMIM:180849 CREBBP 1387 HP:0000689 Dental malocclusion OMIM:180849 CREBBP 1387 HP:0003319 Abnormality of the cervical spine OMIM:180849 CREBBP 1387 HP:0005306 Capillary hemangiomas OMIM:180849 CREBBP 1387 HP:0000218 High palate OMIM:180849 CREBBP 1387 HP:0005895 Radial deviation of thumb terminal phalanx OMIM:180849 CREBBP 1387 HP:0001388 Joint laxity OMIM:180849 CREBBP 1387 HP:0002650 Scoliosis OMIM:180849 CREBBP 1387 HP:0003298 Spina bifida occulta OMIM:180849 CREBBP 1387 HP:0000501 Glaucoma OMIM:180849 CREBBP 1387 HP:0001252 Muscular hypotonia OMIM:180849 CREBBP 1387 HP:0000028 Cryptorchidism OMIM:180849 CREBBP 1387 HP:0000717 Autism OMIM:180849 CREBBP 1387 HP:0002750 Delayed skeletal maturation OMIM:180849 CREBBP 1387 HP:0001347 Hyperreflexia OMIM:180849 CREBBP 1387 HP:0002869 Flared iliac wings OMIM:180849 CREBBP 1387 HP:0001508 Failure to thrive OMIM:180849 CREBBP 1387 HP:0005743 Avascular necrosis of the capital femoral epiphysis OMIM:180849 CREBBP 1387 HP:0001561 Polyhydramnios OMIM:180849 CREBBP 1387 HP:0001335 Bimanual synkinesia OMIM:180849 CREBBP 1387 HP:0002007 Frontal bossing OMIM:180849 CREBBP 1387 HP:0000678 Dental crowding OMIM:180849 CREBBP 1387 HP:0000490 Deeply set eye OMIM:180849 CREBBP 1387 HP:0001629 Ventricular septal defect OMIM:180849 CREBBP 1387 HP:0000520 Proptosis OMIM:180849 CREBBP 1387 HP:0002019 Constipation OMIM:180849 CREBBP 1387 HP:0000347 Micrognathia OMIM:180849 CREBBP 1387 HP:0010055 Broad hallux OMIM:180849 CREBBP 1387 HP:0002162 Low posterior hairline OMIM:180849 CREBBP 1387 HP:0003828 Variable expressivity OMIM:180849 CREBBP 1387 HP:0000494 Downslanted palpebral fissures OMIM:180849 CREBBP 1387 HP:0000294 Low anterior hairline OMIM:180849 CREBBP 1387 HP:0001425 Heterogeneous OMIM:180849 CREBBP 1387 HP:0000365 Hearing impairment OMIM:180849 CREBBP 1387 HP:0002183 Phonophobia OMIM:180849 CREBBP 1387 HP:0008107 Plantar crease between first and second toes OMIM:180849 CREBBP 1387 HP:0001601 Laryngomalacia OMIM:180849 CREBBP 1387 HP:0000750 Delayed speech and language development OMIM:180849 CREBBP 1387 HP:0000369 Low-set ears OMIM:180849 CREBBP 1387 HP:0000286 Epicanthus OMIM:180849 CREBBP 1387 HP:0000047 Hypospadias OMIM:180849 CREBBP 1387 HP:0003083 Dislocated radial head OMIM:180849 CREBBP 1387 HP:0002251 Aganglionic megacolon OMIM:180849 CREBBP 1387 HP:0011087 Talon cusp OMIM:180849 CREBBP 1387 HP:0000957 Cafe-au-lait spot OMIM:180849 CREBBP 1387 HP:0000327 Hypoplasia of the maxilla OMIM:180849 CREBBP 1387 HP:0004209 Clinodactyly of the 5th finger OMIM:180849 CREBBP 1387 HP:0001212 Prominent fingertip pads OMIM:180849 CREBBP 1387 HP:0000486 Strabismus OMIM:180849 CREBBP 1387 HP:0000733 Stereotypic behavior OMIM:180849 CREBBP 1387 HP:0003745 Sporadic OMIM:180849 CREBBP 1387 HP:0010314 Premature thelarche OMIM:180849 CREBBP 1387 HP:0001763 Pes planus OMIM:180849 CREBBP 1387 HP:0001956 Truncal obesity OMIM:180849 CREBBP 1387 HP:0004322 Short stature OMIM:180849 CREBBP 1387 HP:0006297 Hypoplasia of dental enamel OMIM:180849 CREBBP 1387 HP:0002370 Poor coordination OMIM:180849 CREBBP 1387 HP:0002700 Large foramen magnum OMIM:180849 CREBBP 1387 HP:0000077 Abnormality of the kidney OMIM:180849 CREBBP 1387 HP:0000278 Retrognathia OMIM:180849 CREBBP 1387 HP:0002317 Unsteady gait OMIM:180849 CREBBP 1387 HP:0000742 Self-mutilation OMIM:180849 CREBBP 1387 HP:0002870 Obstructive sleep apnea OMIM:180849 CREBBP 1387 HP:0000049 Shawl scrotum OMIM:180849 CREBBP 1387 HP:0002353 EEG abnormality OMIM:180849 CREBBP 1387 HP:0002999 Patellar dislocation OMIM:180849 CREBBP 1387 HP:0000518 Cataract OMIM:180849 CREBBP 1387 HP:0002880 Respiratory difficulties OMIM:180849 CREBBP 1387 HP:0000444 Convex nasal ridge OMIM:180849 CREBBP 1387 HP:0010562 Keloids OMIM:180849 CREBBP 1387 HP:0000431 Wide nasal bridge OMIM:180849 CREBBP 1387 HP:0001042 High axial triradius OMIM:180849 CREBBP 1387 HP:0000160 Narrow mouth OMIM:180849 CREBBP 1387 HP:0000260 Wide anterior fontanel OMIM:180849 CREBBP 1387 HP:0009921 Duane anomaly OMIM:180849 CREBBP 1387 HP:0000954 Single transverse palmar crease OMIM:180849 CREBBP 1387 HP:0000579 Nasolacrimal duct obstruction OMIM:180849 CREBBP 1387 HP:0100710 Impulsivity OMIM:180849 CREBBP 1387 HP:0002866 Hypoplastic iliac wing OMIM:180849 CREBBP 1387 HP:0004411 Deviated nasal septum OMIM:180849 CREBBP 1387 HP:0000527 Long eyelashes OMIM:180849 CREBBP 1387 HP:0009715 Papillary cystadenoma of the epididymis OMIM:180849 CREBBP 1387 HP:0000189 Narrow palate OMIM:180849 CREBBP 1387 HP:0008897 Postnatal growth retardation OMIM:180849 CREBBP 1387 HP:0001159 Syndactyly OMIM:180849 CREBBP 1387 HP:0000270 Delayed cranial suture closure OMIM:180849 CREBBP 1387 HP:0001274 Agenesis of corpus callosum OMIM:180849 CREBBP 1387 HP:0006483 Abnormal number of teeth OMIM:180849 CREBBP 1387 HP:0002236 Frontal upsweep of hair OMIM:180849 CREBBP 1387 HP:0011304 Broad thumb OMIM:180849 CREBBP 1387 HP:0000539 Abnormality of refraction OMIM:180849 CREBBP 1387 HP:0002697 Parietal foramina OMIM:180849 CREBBP 1387 HP:0000736 Short attention span OMIM:180849 CREBBP 1387 HP:0000006 Autosomal dominant inheritance OMIM:180849 CREBBP 1387 HP:0000481 Abnormality of the cornea OMIM:180849 CREBBP 1387 HP:0000252 Microcephaly OMIM:180849 CREBBP 1387 HP:0001371 Flexion contracture OMIM:180849 CREBBP 1387 HP:0001007 Hirsutism OMIM:180849 CREBBP 1387 HP:0011675 Arrhythmia OMIM:180849 CREBBP 1387 HP:0010775 Vascular ring OMIM:180849 CREBBP 1387 HP:0000377 Abnormality of the pinna OMIM:180849 CREBBP 1387 HP:0010442 Polydactyly OMIM:180849 CREBBP 1387 HP:0002788 Recurrent upper respiratory tract infections OMIM:180849 CREBBP 1387 HP:0000767 Pectus excavatum OMIM:180849 CREBBP 1387 HP:0000136 Bifid uterus OMIM:180849 CREBBP 1387 HP:0000273 Facial grimacing OMIM:613737 PSEN1 5663 HP:0100838 Recurrent cutaneous abscess formation OMIM:613737 PSEN1 5663 HP:0011132 Chronic furunculosis OMIM:613737 PSEN1 5663 HP:0012322 Perifolliculitis OMIM:253250 TRIM37 4591 HP:0000483 Astigmatism OMIM:253250 TRIM37 4591 HP:0001252 Muscular hypotonia OMIM:253250 TRIM37 4591 HP:0002688 Absent frontal sinuses OMIM:253250 TRIM37 4591 HP:0004325 Decreased body weight OMIM:253250 TRIM37 4591 HP:0007659 Decreased retinal pigmentation with dispersion OMIM:253250 TRIM37 4591 HP:0001511 Intrauterine growth retardation OMIM:253250 TRIM37 4591 HP:0002007 Frontal bossing OMIM:253250 TRIM37 4591 HP:0000325 Triangular face OMIM:253250 TRIM37 4591 HP:0000316 Hypertelorism OMIM:253250 TRIM37 4591 HP:0000678 Dental crowding OMIM:253250 TRIM37 4591 HP:0002240 Hepatomegaly OMIM:253250 TRIM37 4591 HP:0000256 Macrocephaly OMIM:253250 TRIM37 4591 HP:0001635 Congestive heart failure OMIM:253250 TRIM37 4591 HP:0000268 Dolichocephaly OMIM:253250 TRIM37 4591 HP:0000171 Microglossia OMIM:253250 TRIM37 4591 HP:0002119 Ventriculomegaly OMIM:253250 TRIM37 4591 HP:0005132 Pericardial constriction OMIM:253250 TRIM37 4591 HP:0001620 High pitched voice OMIM:253250 TRIM37 4591 HP:0000486 Strabismus OMIM:253250 TRIM37 4591 HP:0004322 Short stature OMIM:253250 TRIM37 4591 HP:0000007 Autosomal recessive inheritance OMIM:253250 TRIM37 4591 HP:0001685 Myocardial fibrosis OMIM:253250 TRIM37 4591 HP:0000668 Hypodontia OMIM:253250 TRIM37 4591 HP:0007757 Hypoplasia of choroid OMIM:253250 TRIM37 4591 HP:0000431 Wide nasal bridge OMIM:253250 TRIM37 4591 HP:0002738 Hypoplastic frontal sinuses OMIM:253250 TRIM37 4591 HP:0001315 Reduced tendon reflexes OMIM:253250 TRIM37 4591 HP:0002680 J-shaped sella turcica OMIM:253250 TRIM37 4591 HP:0001260 Dysarthria OMIM:253250 TRIM37 4591 HP:0002667 Nephroblastoma (Wilms tumor) OMIM:253250 TRIM37 4591 HP:0001621 Weak voice OMIM:253250 TRIM37 4591 HP:0005280 Depressed nasal bridge OMIM:253250 TRIM37 4591 HP:0003764 Nevus OMIM:108900 NKX2-5 1482 HP:0001684 Secundum atrial septal defect OMIM:108900 NKX2-5 1482 HP:0004935 Pulmonary artery atresia OMIM:108900 NKX2-5 1482 HP:0001636 Tetralogy of Fallot OMIM:108900 NKX2-5 1482 HP:0001712 Left ventricular hypertrophy OMIM:108900 NKX2-5 1482 HP:0001629 Ventricular septal defect OMIM:108900 NKX2-5 1482 HP:0012248 Prolonged PR interval OMIM:108900 NKX2-5 1482 HP:0005110 Atrial fibrillation OMIM:108900 NKX2-5 1482 HP:0001682 Subaortic stenosis OMIM:108900 NKX2-5 1482 HP:0000006 Autosomal dominant inheritance OMIM:615411 KIF2A 3796 HP:0002539 Cortical dysplasia OMIM:615411 KIF2A 3796 HP:0001339 Lissencephaly OMIM:615411 KIF2A 3796 HP:0001263 Global developmental delay OMIM:615411 KIF2A 3796 HP:0000252 Microcephaly OMIM:615411 KIF2A 3796 HP:0002079 Hypoplasia of the corpus callosum OMIM:615411 KIF2A 3796 HP:0000639 Nystagmus OMIM:615411 KIF2A 3796 HP:0001511 Intrauterine growth retardation OMIM:615411 KIF2A 3796 HP:0000006 Autosomal dominant inheritance OMIM:615411 KIF2A 3796 HP:0002510 Spastic tetraplegia OMIM:615411 KIF2A 3796 HP:0001250 Seizures OMIM:615411 KIF2A 3796 HP:0001302 Pachygyria OMIM:246700 SAR1B 51128 HP:0002495 Impaired vibratory sensation OMIM:246700 SAR1B 51128 HP:0001315 Reduced tendon reflexes OMIM:246700 SAR1B 51128 HP:0002570 Steatorrhea OMIM:246700 SAR1B 51128 HP:0001510 Growth delay OMIM:246700 SAR1B 51128 HP:0000007 Autosomal recessive inheritance OMIM:246700 SAR1B 51128 HP:0000478 Abnormality of the eye OMIM:246700 SAR1B 51128 HP:0002014 Diarrhea OMIM:246700 SAR1B 51128 HP:0003146 Hypocholesterolemia OMIM:246700 SAR1B 51128 HP:0001249 Intellectual disability OMIM:246700 SAR1B 51128 HP:0003073 Hypoalbuminemia OMIM:246700 SAR1B 51128 HP:0004395 Malnutrition OMIM:246700 SAR1B 51128 HP:0003593 Infantile onset OMIM:246700 SAR1B 51128 HP:0002013 Vomiting OMIM:246700 SAR1B 51128 HP:0003563 Hypobetalipoproteinemia OMIM:246700 SAR1B 51128 HP:0001871 Abnormality of blood and blood-forming tissues OMIM:246700 SAR1B 51128 HP:0001508 Failure to thrive OMIM:610293 PIGM 93183 HP:0002240 Hepatomegaly OMIM:610293 PIGM 93183 HP:0001744 Splenomegaly OMIM:610293 PIGM 93183 HP:0001250 Seizures OMIM:610293 PIGM 93183 HP:0030242 Portal vein thrombosis OMIM:610293 PIGM 93183 HP:0000007 Autosomal recessive inheritance OMIM:610293 PIGM 93183 HP:0001409 Portal hypertension OMIM:602722 ATP6V0A4 50617 HP:0002013 Vomiting OMIM:602722 ATP6V0A4 50617 HP:0000121 Nephrocalcinosis OMIM:602722 ATP6V0A4 50617 HP:0000007 Autosomal recessive inheritance OMIM:602722 ATP6V0A4 50617 HP:0001944 Dehydration OMIM:602722 ATP6V0A4 50617 HP:0008341 Distal renal tubular acidosis OMIM:602722 ATP6V0A4 50617 HP:0008619 Bilateral sensorineural hearing impairment OMIM:602722 ATP6V0A4 50617 HP:0001508 Failure to thrive OMIM:602722 ATP6V0A4 50617 HP:0001510 Growth delay OMIM:601665 PPARG 5468 HP:0012340 Decreased resting energy expenditure OMIM:601665 PPARG 5468 HP:0010982 Polygenic inheritance OMIM:601665 PPARG 5468 HP:0001513 Obesity OMIM:601665 NR0B2 8431 HP:0012340 Decreased resting energy expenditure OMIM:601665 NR0B2 8431 HP:0010982 Polygenic inheritance OMIM:601665 NR0B2 8431 HP:0001513 Obesity OMIM:601665 MC4R 4160 HP:0012340 Decreased resting energy expenditure OMIM:601665 MC4R 4160 HP:0010982 Polygenic inheritance OMIM:601665 MC4R 4160 HP:0001513 Obesity OMIM:601665 SIM1 6492 HP:0012340 Decreased resting energy expenditure OMIM:601665 SIM1 6492 HP:0010982 Polygenic inheritance OMIM:601665 SIM1 6492 HP:0001513 Obesity OMIM:615555 PRLR 5618 HP:0000876 Oligomenorrhea OMIM:615555 PRLR 5618 HP:0000132 Menorrhagia OMIM:615555 PRLR 5618 HP:0100829 Galactorrhea OMIM:615555 PRLR 5618 HP:0000789 Infertility OMIM:615555 PRLR 5618 HP:0000870 Prolactin excess OMIM:615555 PRLR 5618 HP:0000006 Autosomal dominant inheritance OMIM:615673 MICU1 10367 HP:0002072 Chorea OMIM:615673 MICU1 10367 HP:0002071 Abnormality of extrapyramidal motor function OMIM:615673 MICU1 10367 HP:0001337 Tremor OMIM:615673 MICU1 10367 HP:0003701 Proximal muscle weakness OMIM:615673 MICU1 10367 HP:0001332 Dystonia OMIM:615673 MICU1 10367 HP:0000007 Autosomal recessive inheritance OMIM:615673 MICU1 10367 HP:0001328 Specific learning disability OMIM:615673 MICU1 10367 HP:0002310 Orofacial dyskinesia OMIM:614872 PEX26 55670 HP:0011968 Feeding difficulties OMIM:614872 PEX26 55670 HP:0008935 Generalized neonatal hypotonia OMIM:614872 PEX26 55670 HP:0000007 Autosomal recessive inheritance OMIM:614872 PEX26 55670 HP:0002240 Hepatomegaly OMIM:614872 PEX26 55670 HP:0001522 Death in infancy OMIM:614872 PEX26 55670 HP:0010655 Epiphyseal stippling OMIM:614872 PEX26 55670 HP:0001250 Seizures OMIM:613079 LOXHD1 125336 HP:0000007 Autosomal recessive inheritance OMIM:613079 LOXHD1 125336 HP:0000365 Hearing impairment OMIM:256370 WT1 7490 HP:0011463 Childhood onset OMIM:256370 WT1 7490 HP:0000007 Autosomal recessive inheritance OMIM:256370 WT1 7490 HP:0000083 Renal insufficiency OMIM:256370 WT1 7490 HP:0001967 Diffuse mesangial sclerosis OMIM:256370 WT1 7490 HP:0000100 Nephrotic syndrome OMIM:256370 WT1 7490 HP:0003676 Progressive disorder OMIM:256370 WT1 7490 HP:0002667 Nephroblastoma (Wilms tumor) OMIM:256370 WT1 7490 HP:0000097 Focal segmental glomerulosclerosis OMIM:614889 IFNGR2 3460 HP:0011274 Recurrent mycobacterial infections OMIM:614889 IFNGR2 3460 HP:0000007 Autosomal recessive inheritance OMIM:615851 VPS53 55275 HP:0001249 Intellectual disability OMIM:615851 VPS53 55275 HP:0001319 Neonatal hypotonia OMIM:615851 VPS53 55275 HP:0002179 Opisthotonus OMIM:615851 VPS53 55275 HP:0004322 Short stature OMIM:615851 VPS53 55275 HP:0002059 Cerebral atrophy OMIM:615851 VPS53 55275 HP:0001250 Seizures OMIM:615851 VPS53 55275 HP:0000737 Irritability OMIM:615851 VPS53 55275 HP:0000252 Microcephaly OMIM:615851 VPS53 55275 HP:0000939 Osteoporosis OMIM:615851 VPS53 55275 HP:0001272 Cerebellar atrophy OMIM:615851 VPS53 55275 HP:0002079 Hypoplasia of the corpus callosum OMIM:615851 VPS53 55275 HP:0002510 Spastic tetraplegia OMIM:615851 VPS53 55275 HP:0001371 Flexion contracture OMIM:615851 VPS53 55275 HP:0002650 Scoliosis OMIM:615851 VPS53 55275 HP:0001263 Global developmental delay OMIM:224100 SEC23B 10483 HP:0001923 Reticulocytosis OMIM:224100 SEC23B 10483 HP:0003655 Reduced activity of N-acetylglucosaminyltransferase II OMIM:224100 SEC23B 10483 HP:0001081 Cholelithiasis OMIM:224100 SEC23B 10483 HP:0001744 Splenomegaly OMIM:224100 SEC23B 10483 HP:0010972 Anemia of inadequate production OMIM:224100 SEC23B 10483 HP:0003352 Endopolyploidy on chromosome studies of bone marrow OMIM:224100 SEC23B 10483 HP:0000007 Autosomal recessive inheritance OMIM:224100 SEC23B 10483 HP:0000952 Jaundice OMIM:604290 CP 1356 HP:0001635 Congestive heart failure OMIM:604290 CP 1356 HP:0002167 Neurological speech impairment OMIM:604290 CP 1356 HP:0002354 Memory impairment OMIM:604290 CP 1356 HP:0000643 Blepharospasm OMIM:604290 CP 1356 HP:0000726 Dementia OMIM:604290 CP 1356 HP:0001276 Hypertonia OMIM:604290 CP 1356 HP:0003281 Increased serum ferritin OMIM:604290 CP 1356 HP:0000473 Torticollis OMIM:604290 CP 1356 HP:0002376 Developmental regression OMIM:604290 CP 1356 HP:0002072 Chorea OMIM:604290 CP 1356 HP:0002168 Scanning speech OMIM:604290 CP 1356 HP:0000708 Behavioral abnormality OMIM:604290 CP 1356 HP:0000819 Diabetes mellitus OMIM:604290 CP 1356 HP:0000488 Retinopathy OMIM:604290 CP 1356 HP:0002311 Incoordination OMIM:604290 CP 1356 HP:0001251 Ataxia OMIM:604290 CP 1356 HP:0001903 Anemia OMIM:604290 CP 1356 HP:0002396 Cogwheel rigidity OMIM:604290 CP 1356 HP:0000821 Hypothyroidism OMIM:604290 CP 1356 HP:0011031 Abnormality of iron homeostasis OMIM:604290 CP 1356 HP:0000546 Retinal degeneration OMIM:604290 CP 1356 HP:0002071 Abnormality of extrapyramidal motor function OMIM:604290 CP 1356 HP:0003581 Adult onset OMIM:604290 CP 1356 HP:0001260 Dysarthria OMIM:604290 CP 1356 HP:0001337 Tremor OMIM:604290 CP 1356 HP:0000007 Autosomal recessive inheritance OMIM:604290 CP 1356 HP:0012211 Abnormal renal physiology OMIM:608931 CHRNE 1145 HP:0001558 Decreased fetal movement OMIM:608931 CHRNE 1145 HP:0003391 Gowers sign OMIM:608931 CHRNE 1145 HP:0010628 Facial palsy OMIM:608931 CHRNE 1145 HP:0003593 Infantile onset OMIM:608931 CHRNE 1145 HP:0000486 Strabismus OMIM:608931 CHRNE 1145 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:608931 CHRNE 1145 HP:0003828 Variable expressivity OMIM:608931 CHRNE 1145 HP:0003199 Decreased muscle mass OMIM:608931 CHRNE 1145 HP:0000689 Dental malocclusion OMIM:608931 CHRNE 1145 HP:0002715 Abnormality of the immune system OMIM:608931 CHRNE 1145 HP:0001270 Motor delay OMIM:608931 CHRNE 1145 HP:0001252 Muscular hypotonia OMIM:608931 CHRNE 1145 HP:0000597 Ophthalmoparesis OMIM:608931 CHRNE 1145 HP:0001260 Dysarthria OMIM:608931 CHRNE 1145 HP:0000508 Ptosis OMIM:608931 CHRNE 1145 HP:0000303 Mandibular prognathia OMIM:608931 CHRNE 1145 HP:0002015 Dysphagia OMIM:608931 CHRNE 1145 HP:0003202 Skeletal muscle atrophy OMIM:608931 CHRNE 1145 HP:0011968 Feeding difficulties OMIM:608931 CHRNE 1145 HP:0003394 Muscle cramps OMIM:608931 CHRNE 1145 HP:0003473 Fatigable weakness OMIM:608931 CHRNE 1145 HP:0002804 Arthrogryposis multiplex congenita OMIM:608931 CHRNE 1145 HP:0003388 Easy fatigability OMIM:608931 CHRNE 1145 HP:0000276 Long face OMIM:608931 CHRNE 1145 HP:0003680 Nonprogressive disorder OMIM:608931 CHRNE 1145 HP:0000218 High palate OMIM:608931 CHRNE 1145 HP:0000007 Autosomal recessive inheritance OMIM:608931 CHRNE 1145 HP:0001612 Weak cry OMIM:608931 CHRNE 1145 HP:0003403 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation OMIM:608931 CHRNE 1145 HP:0003554 Type 2 muscle fiber atrophy OMIM:608931 CHRNE 1145 HP:0003443 Decreased size of nerve terminals OMIM:611174 IRX5 10265 HP:0000431 Wide nasal bridge OMIM:611174 IRX5 10265 HP:0005338 Sparse lateral eyebrow OMIM:611174 IRX5 10265 HP:0001631 Defect in the atrial septum OMIM:611174 IRX5 10265 HP:0000248 Brachycephaly OMIM:611174 IRX5 10265 HP:0000154 Wide mouth OMIM:611174 IRX5 10265 HP:0000028 Cryptorchidism OMIM:611174 IRX5 10265 HP:0000023 Inguinal hernia OMIM:611174 IRX5 10265 HP:0001653 Mitral regurgitation OMIM:611174 IRX5 10265 HP:0000767 Pectus excavatum OMIM:611174 IRX5 10265 HP:0010511 Long toe OMIM:611174 IRX5 10265 HP:0000829 Hypoparathyroidism OMIM:611174 IRX5 10265 HP:0000007 Autosomal recessive inheritance OMIM:611174 IRX5 10265 HP:0000465 Webbed neck OMIM:611174 IRX5 10265 HP:0000689 Dental malocclusion OMIM:611174 IRX5 10265 HP:0200021 Down-sloping shoulders OMIM:611174 IRX5 10265 HP:0011343 Moderate global developmental delay OMIM:611174 IRX5 10265 HP:0000407 Sensorineural hearing impairment OMIM:611174 IRX5 10265 HP:0000369 Low-set ears OMIM:611174 IRX5 10265 HP:0000938 Osteopenia OMIM:611174 IRX5 10265 HP:0000668 Hypodontia OMIM:611174 IRX5 10265 HP:0009536 Short 2nd finger OMIM:611174 IRX5 10265 HP:0001182 Tapered finger OMIM:611174 IRX5 10265 HP:0001363 Craniosynostosis OMIM:611174 IRX5 10265 HP:0000319 Smooth philtrum OMIM:611174 IRX5 10265 HP:0000384 Preauricular skin tag OMIM:611174 IRX5 10265 HP:0000343 Long philtrum OMIM:611174 IRX5 10265 HP:0001931 Hypochromic anemia OMIM:611174 IRX5 10265 HP:0000316 Hypertelorism OMIM:611174 IRX5 10265 HP:0001159 Syndactyly OMIM:611174 IRX5 10265 HP:0001385 Hip dysplasia OMIM:611174 IRX5 10265 HP:0000218 High palate OMIM:611174 IRX5 10265 HP:0011003 Severe Myopia OMIM:611174 IRX5 10265 HP:0002376 Developmental regression OMIM:611174 IRX5 10265 HP:0001935 Microcytic anemia OMIM:611174 IRX5 10265 HP:0002162 Low posterior hairline OMIM:611174 IRX5 10265 HP:0002015 Dysphagia OMIM:611174 IRX5 10265 HP:0000463 Anteverted nares OMIM:608340 GDAP1 54332 HP:0003387 Decreased number of large peripheral myelinated nerve fibers OMIM:608340 GDAP1 54332 HP:0001265 Hyporeflexia OMIM:608340 GDAP1 54332 HP:0011096 Peripheral demyelination OMIM:608340 GDAP1 54332 HP:0002650 Scoliosis OMIM:608340 GDAP1 54332 HP:0009830 Peripheral neuropathy OMIM:608340 GDAP1 54332 HP:0009027 Foot dorsiflexor weakness OMIM:608340 GDAP1 54332 HP:0001761 Pes cavus OMIM:608340 GDAP1 54332 HP:0002936 Distal sensory impairment OMIM:608340 GDAP1 54332 HP:0000007 Autosomal recessive inheritance OMIM:608340 GDAP1 54332 HP:0003383 Onion bulb formation OMIM:608340 GDAP1 54332 HP:0011463 Childhood onset OMIM:608340 GDAP1 54332 HP:0001178 Ulnar claw OMIM:608340 GDAP1 54332 HP:0003445 EMG: neuropathic changes OMIM:608340 GDAP1 54332 HP:0003693 Distal amyotrophy OMIM:608340 GDAP1 54332 HP:0003690 Limb muscle weakness OMIM:608340 GDAP1 54332 HP:0003376 Steppage gait OMIM:608340 GDAP1 54332 HP:0001762 Talipes equinovarus OMIM:608340 GDAP1 54332 HP:0001284 Areflexia OMIM:125852 INS 3630 HP:0100651 Type I diabetes mellitus OMIM:605389 APCDD1 147495 HP:0001006 Hypotrichosis OMIM:605389 APCDD1 147495 HP:0000007 Autosomal recessive inheritance OMIM:605389 APCDD1 147495 HP:0000006 Autosomal dominant inheritance ORPHANET:77301 PTCH1 5727 HP:0007018 Attention deficit hyperactivity disorder ORPHANET:77301 PTCH1 5727 HP:0009908 Anterior creases of earlobe ORPHANET:77301 PTCH1 5727 HP:0000243 Trigonocephaly ORPHANET:77301 PTCH1 5727 HP:0000098 Tall stature ORPHANET:77301 PTCH1 5727 HP:0000160 Narrow mouth ORPHANET:77301 PTCH1 5727 HP:0008872 Feeding difficulties in infancy ORPHANET:77301 PTCH1 5727 HP:0000684 Delayed eruption of teeth ORPHANET:77301 PTCH1 5727 HP:0001250 Seizures ORPHANET:77301 PTCH1 5727 HP:0001382 Joint hypermobility ORPHANET:77301 PTCH1 5727 HP:0002119 Ventriculomegaly ORPHANET:77301 PTCH1 5727 HP:0000286 Epicanthus ORPHANET:77301 PTCH1 5727 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:77301 PTCH1 5727 HP:0005616 Accelerated skeletal maturation ORPHANET:77301 PTCH1 5727 HP:0000256 Macrocephaly ORPHANET:77301 PTCH1 5727 HP:0000494 Downslanted palpebral fissures ORPHANET:77301 PTCH1 5727 HP:0100543 Cognitive impairment ORPHANET:77301 PTCH1 5727 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:77301 PTCH1 5727 HP:0009748 Large earlobe ORPHANET:77301 PTCH1 5727 HP:0001252 Muscular hypotonia ORPHANET:77301 PTCH1 5727 HP:0001537 Umbilical hernia ORPHANET:77301 PTCH1 5727 HP:0000470 Short neck ORPHANET:77301 PTCH1 5727 HP:0000486 Strabismus ORPHANET:77301 PTCH1 5727 HP:0000767 Pectus excavatum ORPHANET:77301 PTCH1 5727 HP:0002808 Kyphosis OMIM:222900 SI 6476 HP:0002014 Diarrhea OMIM:222900 SI 6476 HP:0000787 Nephrolithiasis OMIM:222900 SI 6476 HP:0000007 Autosomal recessive inheritance OMIM:222900 SI 6476 HP:0002024 Malabsorption OMIM:222900 SI 6476 HP:0001939 Abnormality of metabolism/homeostasis OMIM:615789 CRIPT 9419 HP:0000463 Anteverted nares OMIM:615789 CRIPT 9419 HP:0000938 Osteopenia OMIM:615789 CRIPT 9419 HP:0011927 Short digit OMIM:615789 CRIPT 9419 HP:0001883 Talipes OMIM:615789 CRIPT 9419 HP:0000252 Microcephaly OMIM:615789 CRIPT 9419 HP:0000007 Autosomal recessive inheritance OMIM:615789 CRIPT 9419 HP:0001518 Small for gestational age OMIM:615789 CRIPT 9419 HP:0003510 Severe short stature OMIM:615789 CRIPT 9419 HP:0000348 High forehead OMIM:615789 CRIPT 9419 HP:0005280 Depressed nasal bridge OMIM:615789 CRIPT 9419 HP:0000520 Proptosis OMIM:148700 DSG1 1828 HP:0000975 Hyperhidrosis OMIM:148700 DSG1 1828 HP:0007501 Streaks of hyperkeratosis along each finger onto the palm OMIM:148700 DSG1 1828 HP:0000006 Autosomal dominant inheritance OMIM:148700 DSG1 1828 HP:0000982 Palmoplantar keratoderma OMIM:300633 AR 367 HP:0000051 Perineal hypospadias OMIM:300633 AR 367 HP:0001419 X-linked recessive inheritance OMIM:300807 F9 2158 HP:0100724 Hypercoagulability OMIM:300807 F9 2158 HP:0002625 Deep venous thrombosis OMIM:300807 F9 2158 HP:0001417 X-linked inheritance OMIM:300807 F9 2158 HP:0010989 Abnormality of the intrinsic pathway ORPHANET:220402 CTGF 1490 HP:0002206 Pulmonary fibrosis ORPHANET:220402 CTGF 1490 HP:0000934 Chondrocalcinosis ORPHANET:220402 CTGF 1490 HP:0008872 Feeding difficulties in infancy ORPHANET:220402 CTGF 1490 HP:0100585 Teleangiectasia of the skin ORPHANET:220402 CTGF 1490 HP:0001063 Acrocyanosis ORPHANET:220402 CTGF 1490 HP:0001836 Camptodactyly of toe ORPHANET:220402 CTGF 1490 HP:0001053 Hypopigmented skin patches ORPHANET:220402 CTGF 1490 HP:0002017 Nausea and vomiting ORPHANET:220402 CTGF 1490 HP:0002960 Autoimmunity ORPHANET:220402 CTGF 1490 HP:0200042 Skin ulcer ORPHANET:220402 CTGF 1490 HP:0100579 Mucosal telangiectasiae ORPHANET:220402 CTGF 1490 HP:0000958 Dry skin ORPHANET:220402 CTGF 1490 HP:0002092 Pulmonary hypertension ORPHANET:220402 CCR6 1235 HP:0002206 Pulmonary fibrosis ORPHANET:220402 CCR6 1235 HP:0000934 Chondrocalcinosis ORPHANET:220402 CCR6 1235 HP:0008872 Feeding difficulties in infancy ORPHANET:220402 CCR6 1235 HP:0100585 Teleangiectasia of the skin ORPHANET:220402 CCR6 1235 HP:0001063 Acrocyanosis ORPHANET:220402 CCR6 1235 HP:0001836 Camptodactyly of toe ORPHANET:220402 CCR6 1235 HP:0001053 Hypopigmented skin patches ORPHANET:220402 CCR6 1235 HP:0002017 Nausea and vomiting ORPHANET:220402 CCR6 1235 HP:0002960 Autoimmunity ORPHANET:220402 CCR6 1235 HP:0200042 Skin ulcer ORPHANET:220402 CCR6 1235 HP:0100579 Mucosal telangiectasiae ORPHANET:220402 CCR6 1235 HP:0000958 Dry skin ORPHANET:220402 CCR6 1235 HP:0002092 Pulmonary hypertension ORPHANET:220402 IRF5 3663 HP:0002206 Pulmonary fibrosis ORPHANET:220402 IRF5 3663 HP:0000934 Chondrocalcinosis ORPHANET:220402 IRF5 3663 HP:0008872 Feeding difficulties in infancy ORPHANET:220402 IRF5 3663 HP:0100585 Teleangiectasia of the skin ORPHANET:220402 IRF5 3663 HP:0001063 Acrocyanosis ORPHANET:220402 IRF5 3663 HP:0001836 Camptodactyly of toe ORPHANET:220402 IRF5 3663 HP:0001053 Hypopigmented skin patches ORPHANET:220402 IRF5 3663 HP:0002017 Nausea and vomiting ORPHANET:220402 IRF5 3663 HP:0002960 Autoimmunity ORPHANET:220402 IRF5 3663 HP:0200042 Skin ulcer ORPHANET:220402 IRF5 3663 HP:0100579 Mucosal telangiectasiae ORPHANET:220402 IRF5 3663 HP:0000958 Dry skin ORPHANET:220402 IRF5 3663 HP:0002092 Pulmonary hypertension ORPHANET:220402 HLA-DRB1 3123 HP:0002206 Pulmonary fibrosis ORPHANET:220402 HLA-DRB1 3123 HP:0000934 Chondrocalcinosis ORPHANET:220402 HLA-DRB1 3123 HP:0008872 Feeding difficulties in infancy ORPHANET:220402 HLA-DRB1 3123 HP:0100585 Teleangiectasia of the skin ORPHANET:220402 HLA-DRB1 3123 HP:0001063 Acrocyanosis ORPHANET:220402 HLA-DRB1 3123 HP:0001836 Camptodactyly of toe ORPHANET:220402 HLA-DRB1 3123 HP:0001053 Hypopigmented skin patches ORPHANET:220402 HLA-DRB1 3123 HP:0002017 Nausea and vomiting ORPHANET:220402 HLA-DRB1 3123 HP:0002960 Autoimmunity ORPHANET:220402 HLA-DRB1 3123 HP:0200042 Skin ulcer ORPHANET:220402 HLA-DRB1 3123 HP:0100579 Mucosal telangiectasiae ORPHANET:220402 HLA-DRB1 3123 HP:0000958 Dry skin ORPHANET:220402 HLA-DRB1 3123 HP:0002092 Pulmonary hypertension ORPHANET:220402 CAV1 857 HP:0002206 Pulmonary fibrosis ORPHANET:220402 CAV1 857 HP:0000934 Chondrocalcinosis ORPHANET:220402 CAV1 857 HP:0008872 Feeding difficulties in infancy ORPHANET:220402 CAV1 857 HP:0100585 Teleangiectasia of the skin ORPHANET:220402 CAV1 857 HP:0001063 Acrocyanosis ORPHANET:220402 CAV1 857 HP:0001836 Camptodactyly of toe ORPHANET:220402 CAV1 857 HP:0001053 Hypopigmented skin patches ORPHANET:220402 CAV1 857 HP:0002017 Nausea and vomiting ORPHANET:220402 CAV1 857 HP:0002960 Autoimmunity ORPHANET:220402 CAV1 857 HP:0200042 Skin ulcer ORPHANET:220402 CAV1 857 HP:0100579 Mucosal telangiectasiae ORPHANET:220402 CAV1 857 HP:0000958 Dry skin ORPHANET:220402 CAV1 857 HP:0002092 Pulmonary hypertension ORPHANET:220402 KIAA0319L 79932 HP:0002206 Pulmonary fibrosis ORPHANET:220402 KIAA0319L 79932 HP:0000934 Chondrocalcinosis ORPHANET:220402 KIAA0319L 79932 HP:0008872 Feeding difficulties in infancy ORPHANET:220402 KIAA0319L 79932 HP:0100585 Teleangiectasia of the skin ORPHANET:220402 KIAA0319L 79932 HP:0001063 Acrocyanosis ORPHANET:220402 KIAA0319L 79932 HP:0001836 Camptodactyly of toe ORPHANET:220402 KIAA0319L 79932 HP:0001053 Hypopigmented skin patches ORPHANET:220402 KIAA0319L 79932 HP:0002017 Nausea and vomiting ORPHANET:220402 KIAA0319L 79932 HP:0002960 Autoimmunity ORPHANET:220402 KIAA0319L 79932 HP:0200042 Skin ulcer ORPHANET:220402 KIAA0319L 79932 HP:0100579 Mucosal telangiectasiae ORPHANET:220402 KIAA0319L 79932 HP:0000958 Dry skin ORPHANET:220402 KIAA0319L 79932 HP:0002092 Pulmonary hypertension OMIM:614675 SRP72 6731 HP:0000006 Autosomal dominant inheritance OMIM:614675 SRP72 6731 HP:0002863 Myelodysplasia OMIM:614675 SRP72 6731 HP:0005528 Bone marrow hypocellularity OMIM:614675 SRP72 6731 HP:0001915 Aplastic anemia OMIM:177400 BCHE 590 HP:0000007 Autosomal recessive inheritance OMIM:177400 BCHE 590 HP:0002104 Apnea OMIM:222700 SLC7A7 9056 HP:0012156 Hemophagocytosis OMIM:222700 SLC7A7 9056 HP:0006517 Alveolar proteinosis OMIM:222700 SLC7A7 9056 HP:0002750 Delayed skeletal maturation OMIM:222700 SLC7A7 9056 HP:0001903 Anemia OMIM:222700 SLC7A7 9056 HP:0004395 Malnutrition OMIM:222700 SLC7A7 9056 HP:0001508 Failure to thrive OMIM:222700 SLC7A7 9056 HP:0000725 Psychotic episodes OMIM:222700 SLC7A7 9056 HP:0003774 Stage 5 chronic kidney disease OMIM:222700 SLC7A7 9056 HP:0003281 Increased serum ferritin OMIM:222700 SLC7A7 9056 HP:0001744 Splenomegaly OMIM:222700 SLC7A7 9056 HP:0001873 Thrombocytopenia OMIM:222700 SLC7A7 9056 HP:0001324 Muscle weakness OMIM:222700 SLC7A7 9056 HP:0000973 Cutis laxa OMIM:222700 SLC7A7 9056 HP:0000007 Autosomal recessive inheritance OMIM:222700 SLC7A7 9056 HP:0008070 Sparse hair OMIM:222700 SLC7A7 9056 HP:0003202 Skeletal muscle atrophy OMIM:222700 SLC7A7 9056 HP:0001987 Hyperammonemia OMIM:222700 SLC7A7 9056 HP:0002014 Diarrhea OMIM:222700 SLC7A7 9056 HP:0000974 Hyperextensible skin OMIM:222700 SLC7A7 9056 HP:0002240 Hepatomegaly OMIM:222700 SLC7A7 9056 HP:0004322 Short stature OMIM:222700 SLC7A7 9056 HP:0001733 Pancreatitis OMIM:222700 SLC7A7 9056 HP:0003812 Phenotypic variability OMIM:222700 SLC7A7 9056 HP:0003593 Infantile onset OMIM:222700 SLC7A7 9056 HP:0002213 Fine hair OMIM:222700 SLC7A7 9056 HP:0001956 Truncal obesity OMIM:222700 SLC7A7 9056 HP:0001882 Leukopenia OMIM:222700 SLC7A7 9056 HP:0002013 Vomiting OMIM:222700 SLC7A7 9056 HP:0003218 Oroticaciduria OMIM:222700 SLC7A7 9056 HP:0001252 Muscular hypotonia OMIM:222700 SLC7A7 9056 HP:0002018 Nausea OMIM:222700 SLC7A7 9056 HP:0002093 Respiratory insufficiency OMIM:222700 SLC7A7 9056 HP:0000939 Osteoporosis OMIM:222700 SLC7A7 9056 HP:0003355 Aminoaciduria OMIM:603689 TTN 7273 HP:0003722 Neck flexor weakness OMIM:603689 TTN 7273 HP:0009113 Diaphragmatic weakness OMIM:603689 TTN 7273 HP:0000006 Autosomal dominant inheritance OMIM:603689 TTN 7273 HP:0009027 Foot dorsiflexor weakness OMIM:615554 PRLR 5618 HP:0000006 Autosomal dominant inheritance OMIM:122600 TBX6 6911 HP:0000470 Short neck OMIM:122600 TBX6 6911 HP:0001511 Intrauterine growth retardation OMIM:122600 TBX6 6911 HP:0003419 Low back pain OMIM:122600 TBX6 6911 HP:0002205 Recurrent respiratory infections OMIM:122600 TBX6 6911 HP:0000256 Macrocephaly OMIM:122600 TBX6 6911 HP:0000008 Abnormality of female internal genitalia OMIM:122600 TBX6 6911 HP:0002564 Malformation of the heart and great vessels OMIM:122600 TBX6 6911 HP:0003298 Spina bifida occulta OMIM:122600 TBX6 6911 HP:0000431 Wide nasal bridge OMIM:122600 TBX6 6911 HP:0002948 Vertebral fusion OMIM:122600 TBX6 6911 HP:0004322 Short stature OMIM:122600 TBX6 6911 HP:0000252 Microcephaly OMIM:122600 TBX6 6911 HP:0003307 Hyperlordosis OMIM:122600 TBX6 6911 HP:0003521 Disproportionate short-trunk short stature OMIM:122600 TBX6 6911 HP:0000582 Upslanted palpebral fissure OMIM:122600 TBX6 6911 HP:0002650 Scoliosis OMIM:122600 TBX6 6911 HP:0005107 Abnormality of the sacrum OMIM:122600 TBX6 6911 HP:0002937 Hemivertebrae OMIM:122600 TBX6 6911 HP:0003422 Vertebral segmentation defect OMIM:122600 TBX6 6911 HP:0010306 Short thorax OMIM:122600 TBX6 6911 HP:0000269 Prominent occiput OMIM:122600 TBX6 6911 HP:0000175 Cleft palate OMIM:122600 TBX6 6911 HP:0000006 Autosomal dominant inheritance OMIM:122600 TBX6 6911 HP:0000913 Posterior rib fusion OMIM:122600 TBX6 6911 HP:0000463 Anteverted nares OMIM:122600 TBX6 6911 HP:0003510 Severe short stature OMIM:256800 NTRK1 4914 HP:0100679 Lack of skin elasticity OMIM:256800 NTRK1 4914 HP:0000752 Hyperactivity OMIM:256800 NTRK1 4914 HP:0000708 Behavioral abnormality OMIM:256800 NTRK1 4914 HP:0000742 Self-mutilation OMIM:256800 NTRK1 4914 HP:0200042 Skin ulcer OMIM:256800 NTRK1 4914 HP:0001226 Acral ulceration and osteomyelitis leading to autoamputation of digits OMIM:256800 NTRK1 4914 HP:0001249 Intellectual disability OMIM:256800 NTRK1 4914 HP:0000495 Recurrent corneal erosions OMIM:256800 NTRK1 4914 HP:0003593 Infantile onset OMIM:256800 NTRK1 4914 HP:0007021 Pain insensitivity OMIM:256800 NTRK1 4914 HP:0002715 Abnormality of the immune system OMIM:256800 NTRK1 4914 HP:0000559 Corneal scarring OMIM:256800 NTRK1 4914 HP:0000491 Keratitis OMIM:256800 NTRK1 4914 HP:0005307 Postural hypotension with compensatory tachycardia OMIM:256800 NTRK1 4914 HP:0007249 Decreased number of small peripheral myelinated nerve fibers OMIM:256800 NTRK1 4914 HP:0008404 Nail dystrophy OMIM:256800 NTRK1 4914 HP:0001072 Thickened skin OMIM:256800 NTRK1 4914 HP:0007759 Opacification of the corneal stroma OMIM:256800 NTRK1 4914 HP:0000007 Autosomal recessive inheritance OMIM:256800 NTRK1 4914 HP:0011001 Increased bone mineral density OMIM:256800 NTRK1 4914 HP:0001263 Global developmental delay OMIM:256800 NTRK1 4914 HP:0001954 Episodic fever OMIM:256800 NTRK1 4914 HP:0002164 Nail dysplasia OMIM:256800 NTRK1 4914 HP:0002459 Dysautonomia OMIM:256800 NTRK1 4914 HP:0011073 Abnormality of dental color OMIM:256800 NTRK1 4914 HP:0000970 Anhidrosis OMIM:256800 NTRK1 4914 HP:0004782 Hypotrichosis of the scalp OMIM:256800 NTRK1 4914 HP:0007328 Impaired pain sensation OMIM:256800 NTRK1 4914 HP:0000712 Emotional lability OMIM:256800 NTRK1 4914 HP:0100543 Cognitive impairment OMIM:256800 NTRK1 4914 HP:0012804 Corneal ulceration OMIM:256800 NTRK1 4914 HP:0002821 Neuropathic arthropathy OMIM:256800 NTRK1 4914 HP:0002754 Osteomyelitis OMIM:136880 PRPH2 5961 HP:0000006 Autosomal dominant inheritance OMIM:136880 PRPH2 5961 HP:0000662 Night blindness OMIM:136880 PRPH2 5961 HP:0012045 Retinal flecks OMIM:136880 RHO 6010 HP:0000006 Autosomal dominant inheritance OMIM:136880 RHO 6010 HP:0000662 Night blindness OMIM:136880 RHO 6010 HP:0012045 Retinal flecks OMIM:136880 RLBP1 6017 HP:0000006 Autosomal dominant inheritance OMIM:136880 RLBP1 6017 HP:0000662 Night blindness OMIM:136880 RLBP1 6017 HP:0012045 Retinal flecks OMIM:136880 RDH5 5959 HP:0000006 Autosomal dominant inheritance OMIM:136880 RDH5 5959 HP:0000662 Night blindness OMIM:136880 RDH5 5959 HP:0012045 Retinal flecks OMIM:146590 KRT1 3848 HP:0008064 Ichthyosis OMIM:146590 KRT1 3848 HP:0001371 Flexion contracture OMIM:146590 KRT1 3848 HP:0001939 Abnormality of metabolism/homeostasis OMIM:146590 KRT1 3848 HP:0001231 Abnormality of the fingernails OMIM:146590 KRT1 3848 HP:0000962 Hyperkeratosis OMIM:146590 KRT1 3848 HP:0200042 Skin ulcer OMIM:146590 KRT1 3848 HP:0000006 Autosomal dominant inheritance OMIM:146590 KRT1 3848 HP:0100758 Gangrene OMIM:616084 TRNT1 51095 HP:0004313 Hypogammaglobulinemia OMIM:616084 TRNT1 51095 HP:0000510 Retinitis pigmentosa OMIM:616084 TRNT1 51095 HP:0001924 Sideroblastic anemia OMIM:616084 TRNT1 51095 HP:0000121 Nephrocalcinosis OMIM:616084 TRNT1 51095 HP:0001263 Global developmental delay OMIM:616084 TRNT1 51095 HP:0001638 Cardiomyopathy OMIM:616084 TRNT1 51095 HP:0002299 Brittle hair OMIM:616084 TRNT1 51095 HP:0004840 Hypochromic microcytic anemia OMIM:616084 TRNT1 51095 HP:0001252 Muscular hypotonia OMIM:616084 TRNT1 51095 HP:0003128 Lactic acidosis OMIM:616084 TRNT1 51095 HP:0001510 Growth delay OMIM:616084 TRNT1 51095 HP:0000407 Sensorineural hearing impairment OMIM:616084 TRNT1 51095 HP:0003355 Aminoaciduria OMIM:616084 TRNT1 51095 HP:0001251 Ataxia OMIM:616084 TRNT1 51095 HP:0001250 Seizures OMIM:616084 TRNT1 51095 HP:0002059 Cerebral atrophy OMIM:115900 CRYBA2 1412 HP:0000501 Glaucoma OMIM:115900 CRYBA2 1412 HP:0000006 Autosomal dominant inheritance OMIM:115900 CRYBA2 1412 HP:0000545 Myopia OMIM:115900 CRYBA2 1412 HP:0000519 Congenital cataract OMIM:176000 HMBS 3145 HP:0011675 Arrhythmia OMIM:176000 HMBS 3145 HP:0001649 Tachycardia OMIM:176000 HMBS 3145 HP:0000020 Urinary incontinence OMIM:176000 HMBS 3145 HP:0002018 Nausea OMIM:176000 HMBS 3145 HP:0004372 Reduced consciousness/confusion OMIM:176000 HMBS 3145 HP:0003119 Abnormality of lipid metabolism OMIM:176000 HMBS 3145 HP:0000738 Hallucinations OMIM:176000 HMBS 3145 HP:0002019 Constipation OMIM:176000 HMBS 3145 HP:0002013 Vomiting OMIM:176000 HMBS 3145 HP:0002590 Paralytic ileus OMIM:176000 HMBS 3145 HP:0001250 Seizures OMIM:176000 HMBS 3145 HP:0000716 Depression OMIM:176000 HMBS 3145 HP:0003401 Paresthesia OMIM:176000 HMBS 3145 HP:0002027 Abdominal pain OMIM:176000 HMBS 3145 HP:0002039 Anorexia OMIM:176000 HMBS 3145 HP:0002014 Diarrhea OMIM:176000 HMBS 3145 HP:0000006 Autosomal dominant inheritance OMIM:176000 HMBS 3145 HP:0003110 Abnormality of urine homeostasis OMIM:176000 HMBS 3145 HP:0000739 Anxiety OMIM:176000 HMBS 3145 HP:0000083 Renal insufficiency OMIM:176000 HMBS 3145 HP:0000016 Urinary retention OMIM:176000 HMBS 3145 HP:0004374 Hemiplegia/hemiparesis OMIM:176000 HMBS 3145 HP:0002902 Hyponatremia OMIM:176000 HMBS 3145 HP:0001402 Hepatocellular carcinoma OMIM:176000 HMBS 3145 HP:0001824 Weight loss OMIM:176000 HMBS 3145 HP:0003489 Acute episodes of neuropathic symptoms OMIM:176000 HMBS 3145 HP:0002896 Neoplasm of the liver OMIM:176000 HMBS 3145 HP:0002829 Arthralgia OMIM:176000 HMBS 3145 HP:0000975 Hyperhidrosis OMIM:176000 HMBS 3145 HP:0006597 Diaphragmatic paralysis OMIM:176000 HMBS 3145 HP:0003470 Paralysis OMIM:176000 HMBS 3145 HP:0002203 Respiratory paralysis OMIM:176000 HMBS 3145 HP:0003326 Myalgia OMIM:176000 HMBS 3145 HP:0100785 Insomnia OMIM:176000 HMBS 3145 HP:0100518 Dysuria OMIM:176000 HMBS 3145 HP:0002017 Nausea and vomiting OMIM:176000 HMBS 3145 HP:0100735 Hypertensive crisis OMIM:176000 HMBS 3145 HP:0000822 Hypertension OMIM:176000 HMBS 3145 HP:0003163 Elevated urinary delta-aminolevulinic acid OMIM:176000 HMBS 3145 HP:0000725 Psychotic episodes OMIM:176000 HMBS 3145 HP:0006824 Cranial nerve paralysis OMIM:208085 VPS33B 26276 HP:0008064 Ichthyosis OMIM:208085 VPS33B 26276 HP:0002910 Elevated hepatic transaminases OMIM:208085 VPS33B 26276 HP:0009806 Nephrogenic diabetes insipidus OMIM:208085 VPS33B 26276 HP:0001667 Right ventricular hypertrophy OMIM:208085 VPS33B 26276 HP:0001947 Renal tubular acidosis OMIM:208085 VPS33B 26276 HP:0001339 Lissencephaly OMIM:208085 VPS33B 26276 HP:0000121 Nephrocalcinosis OMIM:208085 VPS33B 26276 HP:0001942 Metabolic acidosis OMIM:208085 VPS33B 26276 HP:0200084 Giant cell hepatitis OMIM:208085 VPS33B 26276 HP:0001263 Global developmental delay OMIM:208085 VPS33B 26276 HP:0001944 Dehydration OMIM:208085 VPS33B 26276 HP:0000252 Microcephaly OMIM:208085 VPS33B 26276 HP:0002804 Arthrogryposis multiplex congenita OMIM:208085 VPS33B 26276 HP:0000369 Low-set ears OMIM:208085 VPS33B 26276 HP:0000952 Jaundice OMIM:208085 VPS33B 26276 HP:0002611 Cholestatic liver disease OMIM:208085 VPS33B 26276 HP:0002908 Conjugated hyperbilirubinemia OMIM:208085 VPS33B 26276 HP:0001631 Defect in the atrial septum OMIM:208085 VPS33B 26276 HP:0001508 Failure to thrive OMIM:208085 VPS33B 26276 HP:0001629 Ventricular septal defect OMIM:208085 VPS33B 26276 HP:0000007 Autosomal recessive inheritance OMIM:208085 VPS33B 26276 HP:0001252 Muscular hypotonia OMIM:208085 VPS33B 26276 HP:0001385 Hip dysplasia OMIM:208085 VPS33B 26276 HP:0001522 Death in infancy OMIM:208085 VPS33B 26276 HP:0001892 Abnormal bleeding OMIM:208085 VPS33B 26276 HP:0000340 Sloping forehead OMIM:208085 VPS33B 26276 HP:0000112 Nephropathy OMIM:208085 VPS33B 26276 HP:0001884 Talipes calcaneovalgus OMIM:208085 VPS33B 26276 HP:0000347 Micrognathia OMIM:300717 FHL1 2273 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:300717 FHL1 2273 HP:0001265 Hyporeflexia OMIM:300717 FHL1 2273 HP:0003701 Proximal muscle weakness OMIM:300717 FHL1 2273 HP:0001423 X-linked dominant inheritance OMIM:300717 FHL1 2273 HP:0001371 Flexion contracture OMIM:300717 FHL1 2273 HP:0003557 Increased variability in muscle fiber diameter OMIM:300717 FHL1 2273 HP:0003678 Rapidly progressive OMIM:300717 FHL1 2273 HP:0003236 Elevated serum creatine phosphokinase OMIM:300717 FHL1 2273 HP:0001284 Areflexia OMIM:600881 CRYBA1 1411 HP:0000519 Congenital cataract OMIM:600881 CRYBA1 1411 HP:0000006 Autosomal dominant inheritance OMIM:600881 CRYBA1 1411 HP:0008031 Posterior Y-sutural cataract OMIM:607341 TSC1 7248 HP:0002539 Cortical dysplasia OMIM:607341 TSC1 7248 HP:0003745 Sporadic OMIM:607341 TSC1 7248 HP:0001269 Hemiparesis OMIM:607341 TSC1 7248 HP:0007042 Focal white matter lesions OMIM:607341 TSC1 7248 HP:0003593 Infantile onset OMIM:607341 TSC1 7248 HP:0002384 Focal seizures with impairment of consciousness or awareness OMIM:607341 TSC1 7248 HP:0003581 Adult onset OMIM:607341 TSC1 7248 HP:0100543 Cognitive impairment OMIM:607341 TSC1 7248 HP:0002446 Astrocytosis OMIM:277900 ATP7B 540 HP:0002758 Osteoarthritis OMIM:277900 ATP7B 540 HP:0001394 Cirrhosis OMIM:277900 ATP7B 540 HP:0000787 Nephrolithiasis OMIM:277900 ATP7B 540 HP:0001382 Joint hypermobility OMIM:277900 ATP7B 540 HP:0003109 Hyperphosphaturia OMIM:277900 ATP7B 540 HP:0010838 High nonceruloplasmin-bound serum copper OMIM:277900 ATP7B 540 HP:0003355 Aminoaciduria OMIM:277900 ATP7B 540 HP:0000934 Chondrocalcinosis OMIM:277900 ATP7B 540 HP:0001271 Polyneuropathy OMIM:277900 ATP7B 540 HP:0002275 Poor motor coordination OMIM:277900 ATP7B 540 HP:0001337 Tremor OMIM:277900 ATP7B 540 HP:0002240 Hepatomegaly OMIM:277900 ATP7B 540 HP:0002040 Esophageal varix OMIM:277900 ATP7B 540 HP:0200032 Kayser-Fleischer ring OMIM:277900 ATP7B 540 HP:0002749 Osteomalacia OMIM:277900 ATP7B 540 HP:0001399 Hepatic failure OMIM:277900 ATP7B 540 HP:0003076 Glycosuria OMIM:277900 ATP7B 540 HP:0000124 Renal tubular dysfunction OMIM:277900 ATP7B 540 HP:0002150 Hypercalciuria OMIM:277900 ATP7B 540 HP:0007327 Mixed demyelinating and axonal polyneuropathy OMIM:277900 ATP7B 540 HP:0000093 Proteinuria OMIM:277900 ATP7B 540 HP:0002307 Drooling OMIM:277900 ATP7B 540 HP:0000007 Autosomal recessive inheritance OMIM:277900 ATP7B 540 HP:0200122 Atypical or prolonged hepatitis OMIM:277900 ATP7B 540 HP:0001259 Coma OMIM:277900 ATP7B 540 HP:0001878 Hemolytic anemia OMIM:277900 ATP7B 540 HP:0000726 Dementia OMIM:277900 ATP7B 540 HP:0001260 Dysarthria OMIM:277900 ATP7B 540 HP:0000751 Personality changes OMIM:277900 ATP7B 540 HP:0002015 Dysphagia OMIM:277900 ATP7B 540 HP:0000939 Osteoporosis OMIM:277900 ATP7B 540 HP:0001332 Dystonia OMIM:277900 ATP7B 540 HP:0000829 Hypoparathyroidism OMIM:271930 NUP62 23636 HP:0002376 Developmental regression OMIM:271930 NUP62 23636 HP:0000007 Autosomal recessive inheritance OMIM:271930 NUP62 23636 HP:0001508 Failure to thrive OMIM:271930 NUP62 23636 HP:0000648 Optic atrophy OMIM:271930 NUP62 23636 HP:0012043 Pendular nystagmus OMIM:271930 NUP62 23636 HP:0001266 Choreoathetosis OMIM:271930 NUP62 23636 HP:0007281 Developmental stagnation OMIM:271930 NUP62 23636 HP:0001257 Spasticity OMIM:271930 NUP62 23636 HP:0001332 Dystonia OMIM:271930 NUP62 23636 HP:0002015 Dysphagia OMIM:271930 NUP62 23636 HP:0001249 Intellectual disability OMIM:175200 STK11 6794 HP:0002035 Rectal prolapse OMIM:175200 STK11 6794 HP:0010788 Testicular neoplasm OMIM:175200 STK11 6794 HP:0001891 Iron deficiency anemia OMIM:175200 STK11 6794 HP:0000771 Gynecomastia OMIM:175200 STK11 6794 HP:0004390 Hamartomatous polyposis OMIM:175200 STK11 6794 HP:0002672 Gastrointestinal carcinoma OMIM:175200 STK11 6794 HP:0100574 Biliary tract neoplasm OMIM:175200 STK11 6794 HP:0002576 Intussusception OMIM:175200 STK11 6794 HP:0005214 Intestinal obstruction OMIM:175200 STK11 6794 HP:0100816 Lip hyperpigmentation OMIM:175200 STK11 6794 HP:0100833 Neoplasm of the small intestine OMIM:175200 STK11 6794 HP:0005244 Gastrointestinal infarctions OMIM:175200 STK11 6794 HP:0001034 Hypermelanotic macule OMIM:175200 STK11 6794 HP:0000153 Abnormality of the mouth OMIM:175200 STK11 6794 HP:0100013 Neoplasm of the breast OMIM:175200 STK11 6794 HP:0002894 Neoplasm of the pancreas OMIM:175200 STK11 6794 HP:0003002 Breast carcinoma OMIM:175200 STK11 6794 HP:0000006 Autosomal dominant inheritance OMIM:175200 STK11 6794 HP:0100582 Nasal polyposis OMIM:175200 STK11 6794 HP:0006753 Neoplasm of the stomach OMIM:175200 STK11 6794 HP:0100751 Esophageal neoplasm OMIM:175200 STK11 6794 HP:0002017 Nausea and vomiting OMIM:175200 STK11 6794 HP:0002027 Abdominal pain OMIM:175200 STK11 6794 HP:0100643 Abnormality of nail color OMIM:175200 STK11 6794 HP:0009726 Renal neoplasm OMIM:175200 STK11 6794 HP:0000069 Abnormality of the ureter OMIM:175200 STK11 6794 HP:0100669 Abnormal pigmentation of the oral mucosa OMIM:175200 STK11 6794 HP:0100615 Ovarian neoplasm OMIM:175200 STK11 6794 HP:0100526 Neoplasm of the lung OMIM:175200 STK11 6794 HP:0001080 Biliary tract abnormality OMIM:175200 STK11 6794 HP:0000138 Ovarian cyst OMIM:175200 STK11 6794 HP:0100759 Clubbing of fingers OMIM:175200 STK11 6794 HP:0100273 Neoplasm of the colon OMIM:175200 STK11 6794 HP:0010784 Uterine neoplasm OMIM:175200 STK11 6794 HP:0002239 Gastrointestinal hemorrhage OMIM:175200 STK11 6794 HP:0002584 Intestinal bleeding OMIM:175200 STK11 6794 HP:0100743 Neoplasm of the rectum OMIM:175200 STK11 6794 HP:0200008 Intestinal polyposis OMIM:175200 STK11 6794 HP:0000995 Melanocytic nevus OMIM:175200 STK11 6794 HP:0008204 Precocious puberty with Sertoli cell tumor OMIM:604004 MLC1 23209 HP:0000256 Macrocephaly OMIM:604004 MLC1 23209 HP:0000007 Autosomal recessive inheritance OMIM:604004 MLC1 23209 HP:0006943 Diffuse spongiform leukoencephalopathy OMIM:604004 MLC1 23209 HP:0001270 Motor delay OMIM:604004 MLC1 23209 HP:0007341 Diffuse swelling of cerebral white matter OMIM:604004 MLC1 23209 HP:0003593 Infantile onset OMIM:604004 MLC1 23209 HP:0001355 Megalencephaly OMIM:604004 MLC1 23209 HP:0001250 Seizures OMIM:604004 MLC1 23209 HP:0001256 Intellectual disability, mild OMIM:604004 MLC1 23209 HP:0001257 Spasticity OMIM:604004 MLC1 23209 HP:0001251 Ataxia OMIM:616371 PARN 5073 HP:0002206 Pulmonary fibrosis OMIM:616371 PARN 5073 HP:0002216 Premature graying of hair OMIM:614036 A2M 2 HP:0000006 Autosomal dominant inheritance OMIM:611038 RAX 30062 HP:0009755 Ankyloblepharon OMIM:611038 RAX 30062 HP:0000568 Microphthalmos OMIM:611038 RAX 30062 HP:0000528 Anophthalmia OMIM:611038 RAX 30062 HP:0000647 Sclerocornea OMIM:611038 RAX 30062 HP:0000007 Autosomal recessive inheritance OMIM:151623 TP53 7157 HP:0002669 Osteosarcoma OMIM:151623 TP53 7157 HP:0100787 Prostate neoplasm OMIM:151623 TP53 7157 HP:0003002 Breast carcinoma OMIM:151623 TP53 7157 HP:0006744 Adrenocortical carcinoma OMIM:151623 TP53 7157 HP:0003003 Colon cancer OMIM:151623 TP53 7157 HP:0002488 Acute leukemia OMIM:151623 TP53 7157 HP:0002667 Nephroblastoma (Wilms tumor) OMIM:151623 TP53 7157 HP:0000006 Autosomal dominant inheritance OMIM:151623 TP53 7157 HP:0030078 Lung adenocarcinoma OMIM:151623 TP53 7157 HP:0002894 Neoplasm of the pancreas OMIM:151623 TP53 7157 HP:0012125 Prostate cancer OMIM:232240 SLC37A4 2542 HP:0012522 Spider hemangioma OMIM:232240 SLC37A4 2542 HP:0001942 Metabolic acidosis OMIM:232240 SLC37A4 2542 HP:0003077 Hyperlipidemia OMIM:232240 SLC37A4 2542 HP:0001402 Hepatocellular carcinoma OMIM:232240 SLC37A4 2542 HP:0002884 Hepatoblastoma OMIM:232240 SLC37A4 2542 HP:0003128 Lactic acidosis OMIM:232240 SLC37A4 2542 HP:0002092 Pulmonary hypertension OMIM:232240 SLC37A4 2542 HP:0000083 Renal insufficiency OMIM:232240 SLC37A4 2542 HP:0000991 Xanthomatosis OMIM:232240 SLC37A4 2542 HP:0006280 Chronic pancreatitis OMIM:232240 SLC37A4 2542 HP:0001943 Hypoglycemia OMIM:232240 SLC37A4 2542 HP:0000007 Autosomal recessive inheritance OMIM:232240 SLC37A4 2542 HP:0000093 Proteinuria OMIM:232240 SLC37A4 2542 HP:0000790 Hematuria OMIM:232240 SLC37A4 2542 HP:0001997 Gout OMIM:232240 SLC37A4 2542 HP:0001946 Ketosis OMIM:232240 SLC37A4 2542 HP:0000822 Hypertension OMIM:232240 SLC37A4 2542 HP:0002240 Hepatomegaly OMIM:232240 SLC37A4 2542 HP:0000097 Focal segmental glomerulosclerosis OMIM:232240 SLC37A4 2542 HP:0000823 Delayed puberty OMIM:232240 SLC37A4 2542 HP:0012213 Decreased glomerular filtration rate OMIM:615837 GRXCR2 643226 HP:0008619 Bilateral sensorineural hearing impairment OMIM:609220 PLOD2 5352 HP:0002980 Femoral bowing OMIM:609220 PLOD2 5352 HP:0003080 Hydroxyprolinuria OMIM:609220 PLOD2 5352 HP:0000768 Pectus carinatum OMIM:609220 PLOD2 5352 HP:0001762 Talipes equinovarus OMIM:609220 PLOD2 5352 HP:0001059 Pterygium OMIM:609220 PLOD2 5352 HP:0004322 Short stature OMIM:609220 PLOD2 5352 HP:0000938 Osteopenia OMIM:609220 PLOD2 5352 HP:0002659 Increased susceptibility to fractures OMIM:609220 PLOD2 5352 HP:0000007 Autosomal recessive inheritance OMIM:609220 PLOD2 5352 HP:0002645 Wormian bones OMIM:609220 PLOD2 5352 HP:0001371 Flexion contracture OMIM:609220 PLOD2 5352 HP:0002987 Elbow flexion contracture OMIM:609220 PLOD2 5352 HP:0006380 Knee flexion contracture OMIM:609220 PLOD2 5352 HP:0000926 Platyspondyly OMIM:609220 PLOD2 5352 HP:0000023 Inguinal hernia ORPHANET:3221 THRB 7068 HP:0010655 Epiphyseal stippling ORPHANET:3221 THRB 7068 HP:0002750 Delayed skeletal maturation ORPHANET:3221 THRB 7068 HP:0000407 Sensorineural hearing impairment ORPHANET:3221 THRB 7068 HP:0000768 Pectus carinatum ORPHANET:3221 THRB 7068 HP:0000912 Sprengel anomaly ORPHANET:3221 THRB 7068 HP:0000820 Abnormality of the thyroid gland ORPHANET:3221 THRB 7068 HP:0000444 Convex nasal ridge OMIM:180750 TWIST1 7291 HP:0000316 Hypertelorism OMIM:180750 TWIST1 7291 HP:0010055 Broad hallux OMIM:180750 TWIST1 7291 HP:0010066 Duplication of phalanx of hallux OMIM:180750 TWIST1 7291 HP:0000006 Autosomal dominant inheritance OMIM:180750 TWIST1 7291 HP:0000586 Shallow orbits OMIM:180750 TWIST1 7291 HP:0003189 Long nose OMIM:180750 TWIST1 7291 HP:0000460 Narrow nose OMIM:180750 TWIST1 7291 HP:0000272 Malar flattening OMIM:180750 TWIST1 7291 HP:0000486 Strabismus OMIM:180750 TWIST1 7291 HP:0001357 Plagiocephaly OMIM:608728 MATN3 4148 HP:0000007 Autosomal recessive inheritance OMIM:608728 MATN3 4148 HP:0003173 Hypoplastic pubic bone OMIM:608728 MATN3 4148 HP:0001377 Limited elbow extension OMIM:608728 MATN3 4148 HP:0005054 Metaphyseal spurs OMIM:608728 MATN3 4148 HP:0000922 Posterior rib cupping OMIM:608728 MATN3 4148 HP:0005257 Thoracic hypoplasia OMIM:608728 MATN3 4148 HP:0002868 Narrow iliac wings OMIM:608728 MATN3 4148 HP:0002979 Bowing of the legs OMIM:608728 MATN3 4148 HP:0008794 Dysplastic iliac wings OMIM:608728 MATN3 4148 HP:0002515 Waddling gait OMIM:608728 MATN3 4148 HP:0010585 Small epiphyses OMIM:608728 MATN3 4148 HP:0002651 Spondyloepimetaphyseal dysplasia OMIM:608728 MATN3 4148 HP:0000926 Platyspondyly OMIM:608728 MATN3 4148 HP:0003026 Short long bone OMIM:608728 MATN3 4148 HP:0010582 Irregular epiphyses OMIM:608728 MATN3 4148 HP:0002938 Lumbar hyperlordosis OMIM:608728 MATN3 4148 HP:0003016 Metaphyseal widening OMIM:608728 MATN3 4148 HP:0003300 Ovoid vertebral bodies OMIM:608728 MATN3 4148 HP:0002983 Micromelia OMIM:608728 MATN3 4148 HP:0003180 Flat acetabular roof OMIM:608728 MATN3 4148 HP:0008873 Disproportionate short-limb short stature OMIM:613217 EPCAM 4072 HP:0002041 Intractable diarrhea OMIM:613217 EPCAM 4072 HP:0011473 Villous atrophy OMIM:613217 EPCAM 4072 HP:0001369 Arthritis OMIM:613217 EPCAM 4072 HP:0000007 Autosomal recessive inheritance OMIM:613217 EPCAM 4072 HP:0001508 Failure to thrive OMIM:613217 EPCAM 4072 HP:0001518 Small for gestational age OMIM:613229 SLITRK1 114798 HP:0001426 Multifactorial inheritance OMIM:613229 SLITRK1 114798 HP:0012167 Hair-pulling OMIM:613229 SLITRK1 114798 HP:0001596 Alopecia OMIM:613229 SLITRK1 114798 HP:0000722 Obsessive-compulsive behavior OMIM:613229 SLITRK1 114798 HP:0000006 Autosomal dominant inheritance OMIM:259100 HPGD 3248 HP:0001376 Limitation of joint mobility OMIM:259100 HPGD 3248 HP:0001519 Disproportionate tall stature OMIM:259100 HPGD 3248 HP:0000767 Pectus excavatum OMIM:259100 HPGD 3248 HP:0003577 Congenital onset OMIM:259100 HPGD 3248 HP:0000972 Palmoplantar hyperkeratosis OMIM:259100 HPGD 3248 HP:0001051 Seborrheic dermatitis OMIM:259100 HPGD 3248 HP:0002758 Osteoarthritis OMIM:259100 HPGD 3248 HP:0002829 Arthralgia OMIM:259100 HPGD 3248 HP:0002645 Wormian bones OMIM:259100 HPGD 3248 HP:0001369 Arthritis OMIM:259100 HPGD 3248 HP:0009771 Osteolytic defects of the phalanges of the hand OMIM:259100 HPGD 3248 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:259100 HPGD 3248 HP:0000976 Eczematoid dermatitis OMIM:259100 HPGD 3248 HP:0000007 Autosomal recessive inheritance OMIM:259100 HPGD 3248 HP:0000975 Hyperhidrosis OMIM:259100 HPGD 3248 HP:0001582 Redundant skin OMIM:259100 HPGD 3248 HP:0000939 Osteoporosis OMIM:259100 HPGD 3248 HP:0003040 Arthropathy OMIM:259100 HPGD 3248 HP:0002684 Thickened calvaria OMIM:259100 HPGD 3248 HP:0000239 Large fontanelles OMIM:259100 HPGD 3248 HP:0001217 Clubbing OMIM:259100 HPGD 3248 HP:0001643 Patent ductus arteriosus OMIM:259100 HPGD 3248 HP:0001386 Joint swelling OMIM:259100 HPGD 3248 HP:0002992 Abnormality of the tibia OMIM:259100 HPGD 3248 HP:0000890 Long clavicles OMIM:259100 HPGD 3248 HP:0000280 Coarse facial features OMIM:259100 HPGD 3248 HP:0004097 Deviation of finger OMIM:259100 HPGD 3248 HP:0000218 High palate OMIM:259100 HPGD 3248 HP:0000508 Ptosis OMIM:259100 HPGD 3248 HP:0003103 Abnormal cortical bone morphology OMIM:259100 HPGD 3248 HP:0000938 Osteopenia OMIM:259100 HPGD 3248 HP:0100760 Clubbing of toes OMIM:259100 HPGD 3248 HP:0002815 Abnormality of the knees OMIM:614080 PIGN 23556 HP:0000347 Micrognathia OMIM:614080 PIGN 23556 HP:0001561 Polyhydramnios OMIM:614080 PIGN 23556 HP:0000286 Epicanthus OMIM:614080 PIGN 23556 HP:0001347 Hyperreflexia OMIM:614080 PIGN 23556 HP:0001265 Hyporeflexia OMIM:614080 PIGN 23556 HP:0000256 Macrocephaly OMIM:614080 PIGN 23556 HP:0002020 Gastroesophageal reflux OMIM:614080 PIGN 23556 HP:0000194 Open mouth OMIM:614080 PIGN 23556 HP:0000007 Autosomal recessive inheritance OMIM:614080 PIGN 23556 HP:0001272 Cerebellar atrophy OMIM:614080 PIGN 23556 HP:0001631 Defect in the atrial septum OMIM:614080 PIGN 23556 HP:0000233 Thin vermilion border OMIM:614080 PIGN 23556 HP:0001252 Muscular hypotonia OMIM:614080 PIGN 23556 HP:0002265 Large fleshy ears OMIM:614080 PIGN 23556 HP:0005280 Depressed nasal bridge OMIM:614080 PIGN 23556 HP:0002023 Anal atresia OMIM:614080 PIGN 23556 HP:0001250 Seizures OMIM:614080 PIGN 23556 HP:0003196 Short nose OMIM:614080 PIGN 23556 HP:0000341 Narrow forehead OMIM:614080 PIGN 23556 HP:0000034 Hydrocele testis OMIM:614080 PIGN 23556 HP:0000396 Overfolded helix OMIM:614080 PIGN 23556 HP:0001643 Patent ductus arteriosus OMIM:614080 PIGN 23556 HP:0001263 Global developmental delay OMIM:614080 PIGN 23556 HP:0000639 Nystagmus OMIM:614080 PIGN 23556 HP:0000343 Long philtrum OMIM:614080 PIGN 23556 HP:0001337 Tremor OMIM:614080 PIGN 23556 HP:0003577 Congenital onset OMIM:614080 PIGN 23556 HP:0000218 High palate OMIM:614080 PIGN 23556 HP:0000076 Vesicoureteral reflux OMIM:614080 PIGN 23556 HP:0001266 Choreoathetosis OMIM:614080 PIGN 23556 HP:0002025 Anal stenosis OMIM:614080 PIGN 23556 HP:0000126 Hydronephrosis OMIM:614080 PIGN 23556 HP:0000280 Coarse facial features ORPHANET:2050 P4HB 5034 HP:0002808 Kyphosis ORPHANET:2050 P4HB 5034 HP:0100543 Cognitive impairment ORPHANET:2050 P4HB 5034 HP:0000520 Proptosis ORPHANET:2050 P4HB 5034 HP:0010299 Abnormality of dentin ORPHANET:2050 P4HB 5034 HP:0002652 Skeletal dysplasia ORPHANET:2050 P4HB 5034 HP:0000272 Malar flattening ORPHANET:2050 P4HB 5034 HP:0000592 Blue sclerae ORPHANET:2050 P4HB 5034 HP:0000347 Micrognathia ORPHANET:2050 P4HB 5034 HP:0001511 Intrauterine growth retardation ORPHANET:2050 P4HB 5034 HP:0001334 Communicating hydrocephalus ORPHANET:2050 P4HB 5034 HP:0001252 Muscular hypotonia ORPHANET:2050 P4HB 5034 HP:0002645 Wormian bones ORPHANET:2050 P4HB 5034 HP:0004349 Reduced bone mineral density ORPHANET:2050 P4HB 5034 HP:0000684 Delayed eruption of teeth ORPHANET:2050 P4HB 5034 HP:0002007 Frontal bossing ORPHANET:2050 P4HB 5034 HP:0002757 Recurrent fractures ORPHANET:2050 P4HB 5034 HP:0001382 Joint hypermobility ORPHANET:2050 P4HB 5034 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:2050 P4HB 5034 HP:0000772 Abnormality of the ribs ORPHANET:2050 P4HB 5034 HP:0002650 Scoliosis ORPHANET:2050 P4HB 5034 HP:0000494 Downslanted palpebral fissures ORPHANET:2050 P4HB 5034 HP:0001608 Abnormality of the voice ORPHANET:2050 P4HB 5034 HP:0006487 Bowing of the long bones ORPHANET:2050 P4HB 5034 HP:0000944 Abnormality of the metaphyses ORPHANET:2050 P4HB 5034 HP:0004322 Short stature ORPHANET:2050 SEC24D 9871 HP:0002808 Kyphosis ORPHANET:2050 SEC24D 9871 HP:0100543 Cognitive impairment ORPHANET:2050 SEC24D 9871 HP:0000520 Proptosis ORPHANET:2050 SEC24D 9871 HP:0010299 Abnormality of dentin ORPHANET:2050 SEC24D 9871 HP:0002652 Skeletal dysplasia ORPHANET:2050 SEC24D 9871 HP:0000272 Malar flattening ORPHANET:2050 SEC24D 9871 HP:0000592 Blue sclerae ORPHANET:2050 SEC24D 9871 HP:0000347 Micrognathia ORPHANET:2050 SEC24D 9871 HP:0001511 Intrauterine growth retardation ORPHANET:2050 SEC24D 9871 HP:0001334 Communicating hydrocephalus ORPHANET:2050 SEC24D 9871 HP:0001252 Muscular hypotonia ORPHANET:2050 SEC24D 9871 HP:0002645 Wormian bones ORPHANET:2050 SEC24D 9871 HP:0004349 Reduced bone mineral density ORPHANET:2050 SEC24D 9871 HP:0000684 Delayed eruption of teeth ORPHANET:2050 SEC24D 9871 HP:0002007 Frontal bossing ORPHANET:2050 SEC24D 9871 HP:0002757 Recurrent fractures ORPHANET:2050 SEC24D 9871 HP:0001382 Joint hypermobility ORPHANET:2050 SEC24D 9871 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:2050 SEC24D 9871 HP:0000772 Abnormality of the ribs ORPHANET:2050 SEC24D 9871 HP:0002650 Scoliosis ORPHANET:2050 SEC24D 9871 HP:0000494 Downslanted palpebral fissures ORPHANET:2050 SEC24D 9871 HP:0001608 Abnormality of the voice ORPHANET:2050 SEC24D 9871 HP:0006487 Bowing of the long bones ORPHANET:2050 SEC24D 9871 HP:0000944 Abnormality of the metaphyses ORPHANET:2050 SEC24D 9871 HP:0004322 Short stature OMIM:613573 PVRL4 81607 HP:0005709 2-3 toe cutaneous syndactyly OMIM:613573 PVRL4 81607 HP:0000535 Sparse eyebrow OMIM:613573 PVRL4 81607 HP:0000968 Ectodermal dysplasia OMIM:613573 PVRL4 81607 HP:0001792 Small nail OMIM:613573 PVRL4 81607 HP:0010554 Cutaneous finger syndactyly OMIM:613573 PVRL4 81607 HP:0006297 Hypoplasia of dental enamel OMIM:613573 PVRL4 81607 HP:0010765 Palmar hyperkeratosis OMIM:613573 PVRL4 81607 HP:0003777 Pili torti OMIM:613573 PVRL4 81607 HP:0000698 Conical tooth OMIM:613573 PVRL4 81607 HP:0002209 Sparse scalp hair OMIM:613573 PVRL4 81607 HP:0000653 Sparse eyelashes OMIM:300489 ATP7A 538 HP:0002936 Distal sensory impairment OMIM:300489 ATP7A 538 HP:0007269 Spinal muscular atrophy OMIM:300489 ATP7A 538 HP:0002317 Unsteady gait OMIM:300489 ATP7A 538 HP:0002460 Distal muscle weakness OMIM:300489 ATP7A 538 HP:0001265 Hyporeflexia OMIM:300489 ATP7A 538 HP:0003621 Juvenile onset OMIM:300489 ATP7A 538 HP:0003693 Distal amyotrophy OMIM:300489 ATP7A 538 HP:0001761 Pes cavus OMIM:300489 ATP7A 538 HP:0000759 Abnormal peripheral nervous system morphology OMIM:300489 ATP7A 538 HP:0003445 EMG: neuropathic changes OMIM:300489 ATP7A 538 HP:0001419 X-linked recessive inheritance OMIM:300489 ATP7A 538 HP:0003677 Slow progression OMIM:261100 AMN 81693 HP:0000093 Proteinuria OMIM:261100 AMN 81693 HP:0000726 Dementia OMIM:261100 AMN 81693 HP:0000007 Autosomal recessive inheritance OMIM:261100 AMN 81693 HP:0200118 Malabsorption of Vitamin B12 OMIM:261100 AMN 81693 HP:0003474 Sensory impairment OMIM:261100 AMN 81693 HP:0001889 Megaloblastic anemia OMIM:261100 AMN 81693 HP:0001289 Confusion OMIM:261100 AMN 81693 HP:0011463 Childhood onset OMIM:261100 AMN 81693 HP:0003401 Paresthesia OMIM:261100 CUBN 8029 HP:0000093 Proteinuria OMIM:261100 CUBN 8029 HP:0000726 Dementia OMIM:261100 CUBN 8029 HP:0000007 Autosomal recessive inheritance OMIM:261100 CUBN 8029 HP:0200118 Malabsorption of Vitamin B12 OMIM:261100 CUBN 8029 HP:0003474 Sensory impairment OMIM:261100 CUBN 8029 HP:0001889 Megaloblastic anemia OMIM:261100 CUBN 8029 HP:0001289 Confusion OMIM:261100 CUBN 8029 HP:0011463 Childhood onset OMIM:261100 CUBN 8029 HP:0003401 Paresthesia OMIM:609311 FGD4 121512 HP:0011096 Peripheral demyelination OMIM:609311 FGD4 121512 HP:0003593 Infantile onset OMIM:609311 FGD4 121512 HP:0001284 Areflexia OMIM:609311 FGD4 121512 HP:0003383 Onion bulb formation OMIM:609311 FGD4 121512 HP:0001265 Hyporeflexia OMIM:609311 FGD4 121512 HP:0001270 Motor delay OMIM:609311 FGD4 121512 HP:0002650 Scoliosis OMIM:609311 FGD4 121512 HP:0001762 Talipes equinovarus OMIM:609311 FGD4 121512 HP:0002515 Waddling gait OMIM:609311 FGD4 121512 HP:0000007 Autosomal recessive inheritance OMIM:609311 FGD4 121512 HP:0002936 Distal sensory impairment OMIM:609311 FGD4 121512 HP:0008944 Distal lower limb amyotrophy OMIM:609311 FGD4 121512 HP:0001761 Pes cavus OMIM:609311 FGD4 121512 HP:0009053 Distal lower limb muscle weakness OMIM:609311 FGD4 121512 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:609311 FGD4 121512 HP:0003431 Decreased motor nerve conduction velocity OMIM:609311 FGD4 121512 HP:0003484 Upper limb muscle weakness OMIM:601455 NDRG1 10397 HP:0002460 Distal muscle weakness OMIM:601455 NDRG1 10397 HP:0006958 Abnormal auditory evoked potentials OMIM:601455 NDRG1 10397 HP:0000649 Abnormality of vision evoked potentials OMIM:601455 NDRG1 10397 HP:0003447 Axonal loss OMIM:601455 NDRG1 10397 HP:0003693 Distal amyotrophy OMIM:601455 NDRG1 10397 HP:0001265 Hyporeflexia OMIM:601455 NDRG1 10397 HP:0000365 Hearing impairment OMIM:601455 NDRG1 10397 HP:0003621 Juvenile onset OMIM:601455 NDRG1 10397 HP:0000007 Autosomal recessive inheritance OMIM:601455 NDRG1 10397 HP:0003481 Segmental peripheral demyelination/remyelination OMIM:601455 NDRG1 10397 HP:0001284 Areflexia OMIM:601455 NDRG1 10397 HP:0006916 Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material OMIM:601455 NDRG1 10397 HP:0001288 Gait disturbance OMIM:601455 NDRG1 10397 HP:0002936 Distal sensory impairment OMIM:601455 NDRG1 10397 HP:0000762 Decreased nerve conduction velocity OMIM:601455 NDRG1 10397 HP:0001155 Abnormality of the hand OMIM:601455 NDRG1 10397 HP:0003383 Onion bulb formation OMIM:601455 NDRG1 10397 HP:0004696 Talipes cavus equinovarus OMIM:269250 SLC35D1 23169 HP:0000912 Sprengel anomaly OMIM:269250 SLC35D1 23169 HP:0003300 Ovoid vertebral bodies OMIM:269250 SLC35D1 23169 HP:0000895 Lateral clavicle hook OMIM:269250 SLC35D1 23169 HP:0000947 Dumbbell-shaped long bone OMIM:269250 SLC35D1 23169 HP:0001156 Brachydactyly syndrome OMIM:269250 SLC35D1 23169 HP:0008368 Tarsal synostosis OMIM:269250 SLC35D1 23169 HP:0000470 Short neck OMIM:269250 SLC35D1 23169 HP:0000272 Malar flattening OMIM:269250 SLC35D1 23169 HP:0003180 Flat acetabular roof OMIM:269250 SLC35D1 23169 HP:0002991 Abnormality of the fibula OMIM:269250 SLC35D1 23169 HP:0000773 Short ribs OMIM:269250 SLC35D1 23169 HP:0008873 Disproportionate short-limb short stature OMIM:269250 SLC35D1 23169 HP:0000774 Narrow chest OMIM:269250 SLC35D1 23169 HP:0000175 Cleft palate OMIM:269250 SLC35D1 23169 HP:0000944 Abnormality of the metaphyses OMIM:269250 SLC35D1 23169 HP:0001004 Lymphedema OMIM:269250 SLC35D1 23169 HP:0001800 Hypoplastic toenails OMIM:269250 SLC35D1 23169 HP:0002983 Micromelia OMIM:269250 SLC35D1 23169 HP:0003025 Metaphyseal irregularity OMIM:269250 SLC35D1 23169 HP:0008108 Advanced tarsal ossification OMIM:269250 SLC35D1 23169 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:269250 SLC35D1 23169 HP:0000882 Hypoplastic scapulae OMIM:269250 SLC35D1 23169 HP:0001231 Abnormality of the fingernails OMIM:269250 SLC35D1 23169 HP:0001561 Polyhydramnios OMIM:269250 SLC35D1 23169 HP:0000256 Macrocephaly OMIM:269250 SLC35D1 23169 HP:0003826 Stillbirth OMIM:269250 SLC35D1 23169 HP:0004233 Advanced ossification of carpal bones OMIM:269250 SLC35D1 23169 HP:0000007 Autosomal recessive inheritance OMIM:269250 SLC35D1 23169 HP:0000907 Anterior rib cupping OMIM:269250 SLC35D1 23169 HP:0000028 Cryptorchidism OMIM:269250 SLC35D1 23169 HP:0000268 Dolichocephaly OMIM:269250 SLC35D1 23169 HP:0005616 Accelerated skeletal maturation OMIM:607523 COL7A1 1294 HP:0000006 Autosomal dominant inheritance OMIM:614934 PNPT1 87178 HP:0000007 Autosomal recessive inheritance OMIM:614934 PNPT1 87178 HP:0000365 Hearing impairment OMIM:212050 CARD9 64170 HP:0000007 Autosomal recessive inheritance OMIM:212050 CARD9 64170 HP:0002721 Immunodeficiency OMIM:212050 CARD9 64170 HP:0001871 Abnormality of blood and blood-forming tissues OMIM:212050 CARD9 64170 HP:0012203 Onychomycosis OMIM:212050 CARD9 64170 HP:0001287 Meningitis OMIM:212050 CARD9 64170 HP:0009098 Chronic oral candidiasis OMIM:212050 CARD9 64170 HP:0001597 Abnormality of the nail OMIM:150250 FLNB 2317 HP:0008127 Bipartite calcaneus OMIM:150250 FLNB 2317 HP:0002779 Tracheomalacia OMIM:150250 FLNB 2317 HP:0002947 Cervical kyphosis OMIM:150250 FLNB 2317 HP:0001724 Aortic dilatation OMIM:150250 FLNB 2317 HP:0000316 Hypertelorism OMIM:150250 FLNB 2317 HP:0000405 Conductive hearing impairment OMIM:150250 FLNB 2317 HP:0002093 Respiratory insufficiency OMIM:150250 FLNB 2317 HP:0001382 Joint hypermobility OMIM:150250 FLNB 2317 HP:0004976 Knee dislocation OMIM:150250 FLNB 2317 HP:0000768 Pectus carinatum OMIM:150250 FLNB 2317 HP:0010743 Short metatarsal OMIM:150250 FLNB 2317 HP:0001626 Abnormality of the cardiovascular system OMIM:150250 FLNB 2317 HP:0003422 Vertebral segmentation defect OMIM:150250 FLNB 2317 HP:0001631 Defect in the atrial septum OMIM:150250 FLNB 2317 HP:0003042 Elbow dislocation OMIM:150250 FLNB 2317 HP:0000028 Cryptorchidism OMIM:150250 FLNB 2317 HP:0002780 Bronchomalacia OMIM:150250 FLNB 2317 HP:0004568 Beaking of vertebral bodies OMIM:150250 FLNB 2317 HP:0003019 Abnormality of the wrist OMIM:150250 FLNB 2317 HP:0000767 Pectus excavatum OMIM:150250 FLNB 2317 HP:0002827 Hip dislocation OMIM:150250 FLNB 2317 HP:0000204 Cleft upper lip OMIM:150250 FLNB 2317 HP:0003304 Spondylolysis OMIM:150250 FLNB 2317 HP:0001762 Talipes equinovarus OMIM:150250 FLNB 2317 HP:0100543 Cognitive impairment OMIM:150250 FLNB 2317 HP:0005280 Depressed nasal bridge OMIM:150250 FLNB 2317 HP:0000175 Cleft palate OMIM:150250 FLNB 2317 HP:0006101 Finger syndactyly OMIM:150250 FLNB 2317 HP:0001388 Joint laxity OMIM:150250 FLNB 2317 HP:0001156 Brachydactyly syndrome OMIM:150250 FLNB 2317 HP:0002650 Scoliosis OMIM:150250 FLNB 2317 HP:0001772 Talipes equinovalgus OMIM:150250 FLNB 2317 HP:0001799 Short nail OMIM:150250 FLNB 2317 HP:0001249 Intellectual disability OMIM:150250 FLNB 2317 HP:0000668 Hypodontia OMIM:150250 FLNB 2317 HP:0012368 Flat face OMIM:150250 FLNB 2317 HP:0001222 Spatulate thumbs OMIM:150250 FLNB 2317 HP:0009602 Abnormality of thumb phalanx OMIM:150250 FLNB 2317 HP:0001629 Ventricular septal defect OMIM:150250 FLNB 2317 HP:0001511 Intrauterine growth retardation OMIM:150250 FLNB 2317 HP:0004322 Short stature OMIM:150250 FLNB 2317 HP:0002007 Frontal bossing OMIM:150250 FLNB 2317 HP:0006067 Multiple carpal ossification centers OMIM:150250 FLNB 2317 HP:0001363 Craniosynostosis OMIM:150250 FLNB 2317 HP:0000006 Autosomal dominant inheritance OMIM:150250 FLNB 2317 HP:0002777 Tracheal stenosis OMIM:150250 FLNB 2317 HP:0002176 Spinal cord compression OMIM:150250 FLNB 2317 HP:0010049 Short metacarpal OMIM:150250 FLNB 2317 HP:0000272 Malar flattening OMIM:150250 FLNB 2317 HP:0008434 Hypoplastic cervical vertebrae OMIM:150250 FLNB 2317 HP:0011220 Prominent forehead OMIM:150250 FLNB 2317 HP:0001798 Anonychia OMIM:150250 FLNB 2317 HP:0005930 Abnormality of epiphysis morphology OMIM:150250 FLNB 2317 HP:0003994 Dislocated wrist OMIM:150250 FLNB 2317 HP:0003298 Spina bifida occulta OMIM:150250 FLNB 2317 HP:0004232 Accessory carpal bones OMIM:150250 FLNB 2317 HP:0007957 Corneal opacity OMIM:150250 FLNB 2317 HP:0000586 Shallow orbits OMIM:150250 FLNB 2317 HP:0001166 Arachnodactyly OMIM:150250 FLNB 2317 HP:0001601 Laryngomalacia OMIM:214150 ERCC6 2074 HP:0001274 Agenesis of corpus callosum OMIM:214150 ERCC6 2074 HP:0000426 Prominent nasal bridge OMIM:214150 ERCC6 2074 HP:0001252 Muscular hypotonia OMIM:214150 ERCC6 2074 HP:0006610 Wide intermamillary distance OMIM:214150 ERCC6 2074 HP:0000347 Micrognathia OMIM:214150 ERCC6 2074 HP:0003819 Death in childhood OMIM:214150 ERCC6 2074 HP:0000639 Nystagmus OMIM:214150 ERCC6 2074 HP:0000343 Long philtrum OMIM:214150 ERCC6 2074 HP:0002987 Elbow flexion contracture OMIM:214150 ERCC6 2074 HP:0001007 Hirsutism OMIM:214150 ERCC6 2074 HP:0008125 Second metatarsal posteriorly placed OMIM:214150 ERCC6 2074 HP:0002673 Coxa valga OMIM:214150 ERCC6 2074 HP:0009473 Joint contracture of the hand OMIM:214150 ERCC6 2074 HP:0006380 Knee flexion contracture OMIM:214150 ERCC6 2074 HP:0001838 Rocker bottom foot OMIM:214150 ERCC6 2074 HP:0000252 Microcephaly OMIM:214150 ERCC6 2074 HP:0000407 Sensorineural hearing impairment OMIM:214150 ERCC6 2074 HP:0002804 Arthrogryposis multiplex congenita OMIM:214150 ERCC6 2074 HP:0002751 Kyphoscoliosis OMIM:214150 ERCC6 2074 HP:0012385 Camptodactyly OMIM:214150 ERCC6 2074 HP:0002187 Intellectual disability, profound OMIM:214150 ERCC6 2074 HP:0000490 Deeply set eye OMIM:214150 ERCC6 2074 HP:0001250 Seizures OMIM:214150 ERCC6 2074 HP:0000007 Autosomal recessive inheritance OMIM:214150 ERCC6 2074 HP:0000581 Blepharophimosis OMIM:214150 ERCC6 2074 HP:0000518 Cataract OMIM:214150 ERCC6 2074 HP:0001321 Cerebellar hypoplasia OMIM:214150 ERCC6 2074 HP:0012448 Delayed myelination OMIM:214150 ERCC6 2074 HP:0004681 Deep longitudinal plantar crease OMIM:214150 ERCC6 2074 HP:0000340 Sloping forehead OMIM:214150 ERCC6 2074 HP:0002171 Gliosis OMIM:214150 ERCC6 2074 HP:0000233 Thin vermilion border OMIM:214150 ERCC6 2074 HP:0000939 Osteoporosis OMIM:214150 ERCC6 2074 HP:0000568 Microphthalmos OMIM:214150 ERCC6 2074 HP:0001508 Failure to thrive OMIM:613244 EPCAM 4072 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:604218 SERPINI1 5274 HP:0002059 Cerebral atrophy OMIM:604218 SERPINI1 5274 HP:0002071 Abnormality of extrapyramidal motor function OMIM:604218 SERPINI1 5274 HP:0000639 Nystagmus OMIM:604218 SERPINI1 5274 HP:0001298 Encephalopathy OMIM:604218 SERPINI1 5274 HP:0002529 Neuronal loss in central nervous system OMIM:604218 SERPINI1 5274 HP:0002171 Gliosis OMIM:604218 SERPINI1 5274 HP:0001250 Seizures OMIM:604218 SERPINI1 5274 HP:0001336 Myoclonus OMIM:604218 SERPINI1 5274 HP:0001260 Dysarthria OMIM:604218 SERPINI1 5274 HP:0002936 Distal sensory impairment OMIM:604218 SERPINI1 5274 HP:0000726 Dementia OMIM:604218 SERPINI1 5274 HP:0000651 Diplopia OMIM:604218 SERPINI1 5274 HP:0000006 Autosomal dominant inheritance OMIM:192600 MYH7 4625 HP:0011675 Arrhythmia OMIM:192600 MYH7 4625 HP:0001939 Abnormality of metabolism/homeostasis OMIM:192600 MYH7 4625 HP:0000006 Autosomal dominant inheritance OMIM:192600 MYH7 4625 HP:0001670 Asymmetric septal hypertrophy OMIM:192600 MYH7 4625 HP:0001682 Subaortic stenosis OMIM:192600 MYH7 4625 HP:0001699 Sudden death OMIM:192600 MYH7 4625 HP:0001635 Congestive heart failure OMIM:192600 CAV3 859 HP:0011675 Arrhythmia OMIM:192600 CAV3 859 HP:0001939 Abnormality of metabolism/homeostasis OMIM:192600 CAV3 859 HP:0000006 Autosomal dominant inheritance OMIM:192600 CAV3 859 HP:0001670 Asymmetric septal hypertrophy OMIM:192600 CAV3 859 HP:0001682 Subaortic stenosis OMIM:192600 CAV3 859 HP:0001699 Sudden death OMIM:192600 CAV3 859 HP:0001635 Congestive heart failure OMIM:192600 MYLK2 85366 HP:0011675 Arrhythmia OMIM:192600 MYLK2 85366 HP:0001939 Abnormality of metabolism/homeostasis OMIM:192600 MYLK2 85366 HP:0000006 Autosomal dominant inheritance OMIM:192600 MYLK2 85366 HP:0001670 Asymmetric septal hypertrophy OMIM:192600 MYLK2 85366 HP:0001682 Subaortic stenosis OMIM:192600 MYLK2 85366 HP:0001699 Sudden death OMIM:192600 MYLK2 85366 HP:0001635 Congestive heart failure OMIM:615537 ADAM10 102 HP:0000006 Autosomal dominant inheritance OMIM:601536 HOXA1 3198 HP:0000496 Abnormality of eye movement OMIM:601536 HOXA1 3198 HP:0002363 Abnormality of brainstem morphology OMIM:601536 HOXA1 3198 HP:0000407 Sensorineural hearing impairment OMIM:601536 HOXA1 3198 HP:0009145 Abnormality of cerebral artery OMIM:601536 HOXA1 3198 HP:0002194 Delayed gross motor development OMIM:607864 AXIN1 8312 HP:0008678 Renal hypoplasia/aplasia OMIM:607864 AXIN1 8312 HP:0100589 Urogenital fistula OMIM:607864 AXIN1 8312 HP:0000028 Cryptorchidism OMIM:607864 AXIN1 8312 HP:0100668 Intestinal duplication OMIM:607864 AXIN1 8312 HP:0003422 Vertebral segmentation defect OMIM:607864 AXIN1 8312 HP:0001539 Omphalocele OMIM:607864 AXIN1 8312 HP:0100561 Spinal cord lesion OMIM:607864 AXIN1 8312 HP:0000073 Ureteral duplication OMIM:607864 AXIN1 8312 HP:0000036 Abnormality of the penis OMIM:607864 AXIN1 8312 HP:0005107 Abnormality of the sacrum OMIM:607864 AXIN1 8312 HP:0003762 Uterus didelphys OMIM:607864 AXIN1 8312 HP:0002475 Myelomeningocele OMIM:147920 KMT2D 8085 HP:0001249 Intellectual disability OMIM:147920 KMT2D 8085 HP:0003468 Abnormality of the vertebrae OMIM:147920 KMT2D 8085 HP:0002024 Malabsorption OMIM:147920 KMT2D 8085 HP:0001973 Autoimmune thrombocytopenia OMIM:147920 KMT2D 8085 HP:0001250 Seizures OMIM:147920 KMT2D 8085 HP:0000535 Sparse eyebrow OMIM:147920 KMT2D 8085 HP:0001631 Defect in the atrial septum OMIM:147920 KMT2D 8085 HP:0004322 Short stature OMIM:147920 KMT2D 8085 HP:0000054 Micropenis OMIM:147920 KMT2D 8085 HP:0007655 Eversion of lateral third of lower eyelids OMIM:147920 KMT2D 8085 HP:0004467 Preauricular pit OMIM:147920 KMT2D 8085 HP:0002566 Intestinal malrotation OMIM:147920 KMT2D 8085 HP:0000252 Microcephaly OMIM:147920 KMT2D 8085 HP:0000508 Ptosis OMIM:147920 KMT2D 8085 HP:0000403 Recurrent otitis media OMIM:147920 KMT2D 8085 HP:0001680 Coarctation of aorta OMIM:147920 KMT2D 8085 HP:0001382 Joint hypermobility OMIM:147920 KMT2D 8085 HP:0000358 Posteriorly rotated ears OMIM:147920 KMT2D 8085 HP:0000592 Blue sclerae OMIM:147920 KMT2D 8085 HP:0001007 Hirsutism OMIM:147920 KMT2D 8085 HP:0000851 Congenital hypothyroidism OMIM:147920 KMT2D 8085 HP:0000175 Cleft palate OMIM:147920 KMT2D 8085 HP:0001263 Global developmental delay OMIM:147920 KMT2D 8085 HP:0000006 Autosomal dominant inheritance OMIM:147920 KMT2D 8085 HP:0001629 Ventricular septal defect OMIM:147920 KMT2D 8085 HP:0005218 Anoperineal fistula OMIM:147920 KMT2D 8085 HP:0002023 Anal atresia OMIM:147920 KMT2D 8085 HP:0000164 Abnormality of the teeth OMIM:147920 KMT2D 8085 HP:0008897 Postnatal growth retardation OMIM:147920 KMT2D 8085 HP:0002025 Anal stenosis OMIM:147920 KMT2D 8085 HP:0002553 Highly arched eyebrow OMIM:147920 KMT2D 8085 HP:0001878 Hemolytic anemia OMIM:147920 KMT2D 8085 HP:0000486 Strabismus OMIM:147920 KMT2D 8085 HP:0000437 Depressed nasal tip OMIM:147920 KMT2D 8085 HP:0002650 Scoliosis OMIM:147920 KMT2D 8085 HP:0001212 Prominent fingertip pads OMIM:147920 KMT2D 8085 HP:0000637 Long palpebral fissure OMIM:147920 KMT2D 8085 HP:0000365 Hearing impairment OMIM:147920 KMT2D 8085 HP:0000431 Wide nasal bridge OMIM:147920 KMT2D 8085 HP:0001374 Congenital hip dislocation OMIM:147920 KMT2D 8085 HP:0000074 Ureteropelvic junction obstruction OMIM:147920 KMT2D 8085 HP:0009237 Short 5th finger OMIM:147920 KMT2D 8085 HP:0000957 Cafe-au-lait spot OMIM:147920 KMT2D 8085 HP:0000028 Cryptorchidism OMIM:147920 KMT2D 8085 HP:0010314 Premature thelarche OMIM:147920 KMT2D 8085 HP:0004736 Crossed fused renal ectopia OMIM:147920 KMT2D 8085 HP:0002100 Recurrent aspiration pneumonia OMIM:147920 KMT2D 8085 HP:0008872 Feeding difficulties in infancy OMIM:147920 KMT2D 8085 HP:0000218 High palate OMIM:147920 KMT2D 8085 HP:0000400 Macrotia OMIM:147920 KMT2D 8085 HP:0001252 Muscular hypotonia OMIM:192950 HOXD10 3236 HP:0001838 Rocker bottom foot OMIM:192950 HOXD10 3236 HP:0000006 Autosomal dominant inheritance OMIM:192950 HOXD10 3236 HP:0008138 Equinus calcaneus OMIM:192950 HOXD10 3236 HP:0003028 Abnormality of the ankles OMIM:192950 HOXD10 3236 HP:0001848 Calcaneovalgus deformity OMIM:192950 HOXD10 3236 HP:0001369 Arthritis OMIM:606705 TMC1 117531 HP:0000006 Autosomal dominant inheritance OMIM:606705 TMC1 117531 HP:0000407 Sensorineural hearing impairment OMIM:606705 TMC1 117531 HP:0000360 Tinnitus OMIM:309860 MAOB 4129 HP:0001939 Abnormality of metabolism/homeostasis OMIM:309860 MAOB 4129 HP:0001417 X-linked inheritance OMIM:248200 CNGB3 54714 HP:0011504 Bull's eye maculopathy OMIM:248200 CNGB3 54714 HP:0000007 Autosomal recessive inheritance OMIM:248200 CNGB3 54714 HP:0008035 Retinitis pigmentosa inversa OMIM:248200 CNGB3 54714 HP:0000608 Macular degeneration OMIM:248200 ABCA4 24 HP:0011504 Bull's eye maculopathy OMIM:248200 ABCA4 24 HP:0000007 Autosomal recessive inheritance OMIM:248200 ABCA4 24 HP:0008035 Retinitis pigmentosa inversa OMIM:248200 ABCA4 24 HP:0000608 Macular degeneration OMIM:605249 MYH9 4627 HP:0001873 Thrombocytopenia OMIM:605249 MYH9 4627 HP:0003010 Prolonged bleeding time OMIM:605249 MYH9 4627 HP:0000421 Epistaxis OMIM:605249 MYH9 4627 HP:0008264 Neutrophil inclusion bodies OMIM:605249 MYH9 4627 HP:0001902 Giant platelets OMIM:605249 MYH9 4627 HP:0000006 Autosomal dominant inheritance OMIM:184840 COL11A2 1302 HP:0002656 Epiphyseal dysplasia OMIM:184840 COL11A2 1302 HP:0002829 Arthralgia OMIM:184840 COL11A2 1302 HP:0000347 Micrognathia OMIM:184840 COL11A2 1302 HP:0000006 Autosomal dominant inheritance OMIM:184840 COL11A2 1302 HP:0000272 Malar flattening OMIM:184840 COL11A2 1302 HP:0003088 Premature osteoarthritis OMIM:184840 COL11A2 1302 HP:0000478 Abnormality of the eye OMIM:184840 COL11A2 1302 HP:0000407 Sensorineural hearing impairment OMIM:184840 COL11A2 1302 HP:0011800 Midface retrusion OMIM:184840 COL11A2 1302 HP:0010580 Enlarged epiphyses OMIM:184840 COL11A2 1302 HP:0000162 Glossoptosis OMIM:184840 COL11A2 1302 HP:0000175 Cleft palate OMIM:184840 COL11A2 1302 HP:0000926 Platyspondyly OMIM:184840 COL11A2 1302 HP:0100777 Exostoses OMIM:184840 COL11A2 1302 HP:0000463 Anteverted nares OMIM:184840 COL11A2 1302 HP:0000343 Long philtrum OMIM:184840 COL11A2 1302 HP:0010669 Cheekbone underdevelopment OMIM:184840 COL11A2 1302 HP:0000768 Pectus carinatum OMIM:184840 COL11A2 1302 HP:0000201 Pierre-Robin sequence OMIM:184840 COL11A2 1302 HP:0002758 Osteoarthritis OMIM:184840 COL11A2 1302 HP:0001163 Abnormality of the metacarpal bones OMIM:184840 COL11A2 1302 HP:0000767 Pectus excavatum OMIM:125500 DSPP 1834 HP:0000006 Autosomal dominant inheritance OMIM:125500 DSPP 1834 HP:0000700 Periapical radiolucency OMIM:125500 DSPP 1834 HP:0000703 Dentinogenesis imperfecta OMIM:125500 DSPP 1834 HP:0000694 Shell teeth OMIM:613630 CHUK 1147 HP:0009939 Mandibular aplasia OMIM:613630 CHUK 1147 HP:0009824 Upper limb undergrowth OMIM:613630 CHUK 1147 HP:0010808 Protruding tongue OMIM:613630 CHUK 1147 HP:0000963 Thin skin OMIM:613630 CHUK 1147 HP:0009892 Anotia OMIM:613630 CHUK 1147 HP:0009816 Lower limb undergrowth OMIM:613630 CHUK 1147 HP:0000252 Microcephaly OMIM:613630 CHUK 1147 HP:0011136 Aplasia of the sweat glands OMIM:613630 CHUK 1147 HP:0000007 Autosomal recessive inheritance OMIM:613630 CHUK 1147 HP:0000042 Absent external genitalia OMIM:613630 CHUK 1147 HP:0001539 Omphalocele OMIM:213300 INPP5E 56623 HP:0011933 Elongated superior cerebellar peduncle OMIM:213300 INPP5E 56623 HP:0007271 Occipital myelomeningocele OMIM:213300 INPP5E 56623 HP:0000256 Macrocephaly OMIM:213300 INPP5E 56623 HP:0001395 Hepatic fibrosis OMIM:213300 INPP5E 56623 HP:0001320 Cerebellar vermis hypoplasia OMIM:213300 INPP5E 56623 HP:0011220 Prominent forehead OMIM:213300 INPP5E 56623 HP:0003812 Phenotypic variability OMIM:213300 INPP5E 56623 HP:0000107 Renal cyst OMIM:213300 INPP5E 56623 HP:0000286 Epicanthus OMIM:213300 INPP5E 56623 HP:0007772 Impaired smooth pursuit OMIM:213300 INPP5E 56623 HP:0000463 Anteverted nares OMIM:213300 INPP5E 56623 HP:0010808 Protruding tongue OMIM:213300 INPP5E 56623 HP:0002508 Brainstem dysplasia OMIM:213300 INPP5E 56623 HP:0000508 Ptosis OMIM:213300 INPP5E 56623 HP:0200096 Triangular-shaped open mouth OMIM:213300 INPP5E 56623 HP:0000752 Hyperactivity OMIM:213300 INPP5E 56623 HP:0001425 Heterogeneous OMIM:213300 INPP5E 56623 HP:0007973 Retinal dysplasia OMIM:213300 INPP5E 56623 HP:0002335 Agenesis of cerebellar vermis OMIM:213300 INPP5E 56623 HP:0001760 Abnormality of the foot OMIM:213300 INPP5E 56623 HP:0002871 Central apnea OMIM:213300 INPP5E 56623 HP:0000007 Autosomal recessive inheritance OMIM:213300 INPP5E 56623 HP:0000570 Abnormality of saccadic eye movements OMIM:213300 INPP5E 56623 HP:0002876 Episodic tachypnea OMIM:213300 INPP5E 56623 HP:0001263 Global developmental delay OMIM:213300 INPP5E 56623 HP:0000567 Chorioretinal coloboma OMIM:213300 INPP5E 56623 HP:0001251 Ataxia OMIM:213300 INPP5E 56623 HP:0002553 Highly arched eyebrow OMIM:213300 INPP5E 56623 HP:0000742 Self-mutilation OMIM:213300 INPP5E 56623 HP:0000158 Macroglossia OMIM:213300 INPP5E 56623 HP:0100951 Enlarged fossa interpeduncularis OMIM:213300 INPP5E 56623 HP:0010828 Hemifacial spasm OMIM:213300 INPP5E 56623 HP:0002419 Molar tooth sign on MRI OMIM:213300 INPP5E 56623 HP:0001249 Intellectual disability OMIM:213300 INPP5E 56623 HP:0000718 Aggressive behavior OMIM:213300 INPP5E 56623 HP:0002365 Hypoplasia of the brainstem OMIM:213300 INPP5E 56623 HP:0002790 Neonatal breathing dysregulation OMIM:213300 INPP5E 56623 HP:0000657 Oculomotor apraxia OMIM:213300 INPP5E 56623 HP:0001162 Postaxial hand polydactyly OMIM:213300 INPP5E 56623 HP:0002195 Dysgenesis of the cerebellar vermis OMIM:213300 INPP5E 56623 HP:0000588 Optic nerve coloboma OMIM:213300 INPP5E 56623 HP:0000556 Retinal dystrophy OMIM:213300 INPP5E 56623 HP:0001252 Muscular hypotonia OMIM:213300 INPP5E 56623 HP:0000369 Low-set ears OMIM:300018 NR0B1 190 HP:0012245 Sex reversal OMIM:300018 NR0B1 190 HP:0001417 X-linked inheritance OMIM:212112 LMNA 4000 HP:0000147 Polycystic ovaries OMIM:212112 LMNA 4000 HP:0001653 Mitral regurgitation OMIM:212112 LMNA 4000 HP:0001249 Intellectual disability OMIM:212112 LMNA 4000 HP:0009125 Lipodystrophy OMIM:212112 LMNA 4000 HP:0000826 Precocious puberty OMIM:212112 LMNA 4000 HP:0000278 Retrognathia OMIM:212112 LMNA 4000 HP:0000894 Short clavicles OMIM:212112 LMNA 4000 HP:0000006 Autosomal dominant inheritance OMIM:212112 LMNA 4000 HP:0000508 Ptosis OMIM:212112 LMNA 4000 HP:0001644 Dilated cardiomyopathy OMIM:212112 LMNA 4000 HP:0200021 Down-sloping shoulders OMIM:212112 LMNA 4000 HP:0000007 Autosomal recessive inheritance OMIM:212112 LMNA 4000 HP:0011362 Abnormal hair quantity OMIM:212112 LMNA 4000 HP:0000366 Abnormality of the nose OMIM:212112 LMNA 4000 HP:0001639 Hypertrophic cardiomyopathy OMIM:212112 LMNA 4000 HP:0000815 Hypergonadotropic hypogonadism OMIM:605362 EYA4 2070 HP:0001645 Sudden cardiac death OMIM:605362 EYA4 2070 HP:0001644 Dilated cardiomyopathy OMIM:605362 EYA4 2070 HP:0000006 Autosomal dominant inheritance OMIM:605362 EYA4 2070 HP:0001635 Congestive heart failure OMIM:605362 EYA4 2070 HP:0000407 Sensorineural hearing impairment OMIM:251100 MMAA 166785 HP:0003210 Decreased methylmalonyl-CoA mutase activity OMIM:251100 MMAA 166785 HP:0001337 Tremor OMIM:251100 MMAA 166785 HP:0001876 Pancytopenia OMIM:251100 MMAA 166785 HP:0000007 Autosomal recessive inheritance OMIM:251100 MMAA 166785 HP:0003593 Infantile onset OMIM:251100 MMAA 166785 HP:0001987 Hyperammonemia OMIM:251100 MMAA 166785 HP:0012120 Methylmalonic aciduria OMIM:251100 MMAA 166785 HP:0001263 Global developmental delay OMIM:251100 MMAA 166785 HP:0001903 Anemia OMIM:251100 MMAA 166785 HP:0002912 Methylmalonic acidemia OMIM:251100 MMAA 166785 HP:0001259 Coma OMIM:251100 MMAA 166785 HP:0001942 Metabolic acidosis OMIM:251100 MMAA 166785 HP:0002013 Vomiting OMIM:251100 MMAA 166785 HP:0002240 Hepatomegaly OMIM:251100 MMAA 166785 HP:0002154 Hyperglycinemia OMIM:251100 MMAA 166785 HP:0008872 Feeding difficulties in infancy OMIM:251100 MMAA 166785 HP:0001875 Neutropenia OMIM:251100 MMAA 166785 HP:0001946 Ketosis OMIM:251100 MMAA 166785 HP:0003145 Decreased adenosylcobalamin OMIM:251100 MMAA 166785 HP:0002098 Respiratory distress OMIM:251100 MMAA 166785 HP:0002919 Ketonuria OMIM:251100 MMAA 166785 HP:0001508 Failure to thrive OMIM:251100 MMAA 166785 HP:0001254 Lethargy OMIM:251100 MMAA 166785 HP:0001252 Muscular hypotonia OMIM:251100 MMAA 166785 HP:0001873 Thrombocytopenia OMIM:251100 MMAA 166785 HP:0001250 Seizures OMIM:251100 MMAA 166785 HP:0001944 Dehydration OMIM:311030 MCF2 4168 HP:0002664 Neoplasm OMIM:311030 MCF2 4168 HP:0001939 Abnormality of metabolism/homeostasis OMIM:311030 MCF2 4168 HP:0001417 X-linked inheritance OMIM:615658 TFG 10342 HP:0001258 Spastic paraplegia OMIM:615658 TFG 10342 HP:0000007 Autosomal recessive inheritance OMIM:615658 TFG 10342 HP:0000572 Visual loss OMIM:615658 TFG 10342 HP:0000648 Optic atrophy OMIM:615658 TFG 10342 HP:0003487 Babinski sign OMIM:615658 TFG 10342 HP:0001347 Hyperreflexia OMIM:248800 SIL1 64374 HP:0003687 Centrally nucleated skeletal muscle fibers OMIM:248800 SIL1 64374 HP:0003202 Skeletal muscle atrophy OMIM:248800 SIL1 64374 HP:0001324 Muscle weakness OMIM:248800 SIL1 64374 HP:0001315 Reduced tendon reflexes OMIM:248800 SIL1 64374 HP:0001371 Flexion contracture OMIM:248800 SIL1 64374 HP:0010743 Short metatarsal OMIM:248800 SIL1 64374 HP:0003236 Elevated serum creatine phosphokinase OMIM:248800 SIL1 64374 HP:0000252 Microcephaly OMIM:248800 SIL1 64374 HP:0003272 Abnormality of the hip bone OMIM:248800 SIL1 64374 HP:0004322 Short stature OMIM:248800 SIL1 64374 HP:0000078 Abnormality of the genital system OMIM:248800 SIL1 64374 HP:0002808 Kyphosis OMIM:248800 SIL1 64374 HP:0001276 Hypertonia OMIM:248800 SIL1 64374 HP:0003323 Progressive muscle weakness OMIM:248800 SIL1 64374 HP:0000486 Strabismus OMIM:248800 SIL1 64374 HP:0002167 Neurological speech impairment OMIM:248800 SIL1 64374 HP:0000815 Hypergonadotropic hypogonadism OMIM:248800 SIL1 64374 HP:0001252 Muscular hypotonia OMIM:248800 SIL1 64374 HP:0000518 Cataract OMIM:248800 SIL1 64374 HP:0000639 Nystagmus OMIM:248800 SIL1 64374 HP:0002070 Limb ataxia OMIM:248800 SIL1 64374 HP:0000768 Pectus carinatum OMIM:248800 SIL1 64374 HP:0001883 Talipes OMIM:248800 SIL1 64374 HP:0000648 Optic atrophy OMIM:248800 SIL1 64374 HP:0002066 Gait ataxia OMIM:248800 SIL1 64374 HP:0001763 Pes planus OMIM:248800 SIL1 64374 HP:0003198 Myopathy OMIM:248800 SIL1 64374 HP:0001508 Failure to thrive OMIM:248800 SIL1 64374 HP:0000007 Autosomal recessive inheritance OMIM:248800 SIL1 64374 HP:0002673 Coxa valga OMIM:248800 SIL1 64374 HP:0100022 Abnormality of movement OMIM:248800 SIL1 64374 HP:0100543 Cognitive impairment OMIM:248800 SIL1 64374 HP:0001260 Dysarthria OMIM:248800 SIL1 64374 HP:0001263 Global developmental delay OMIM:248800 SIL1 64374 HP:0002311 Incoordination OMIM:248800 SIL1 64374 HP:0009830 Peripheral neuropathy OMIM:248800 SIL1 64374 HP:0002650 Scoliosis OMIM:248800 SIL1 64374 HP:0002967 Cubitus valgus OMIM:248800 SIL1 64374 HP:0001249 Intellectual disability OMIM:248800 SIL1 64374 HP:0003593 Infantile onset OMIM:248800 SIL1 64374 HP:0001257 Spasticity OMIM:248800 SIL1 64374 HP:0001156 Brachydactyly syndrome OMIM:248800 SIL1 64374 HP:0010049 Short metacarpal OMIM:248800 SIL1 64374 HP:0008278 Cerebellar cortical atrophy OMIM:248800 SIL1 64374 HP:0000519 Congenital cataract OMIM:248800 SIL1 64374 HP:0001163 Abnormality of the metacarpal bones OMIM:248800 SIL1 64374 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:123000 ANKH 56172 HP:0004975 Erlenmeyer flask deformity of the femurs OMIM:123000 ANKH 56172 HP:0005450 Calvarial osteosclerosis OMIM:123000 ANKH 56172 HP:0004407 Bony paranasal bossing OMIM:123000 ANKH 56172 HP:0001742 Nasal obstruction OMIM:123000 ANKH 56172 HP:0001739 Abnormality of the nasopharynx OMIM:123000 ANKH 56172 HP:0010628 Facial palsy OMIM:123000 ANKH 56172 HP:0002694 Sclerosis of skull base OMIM:123000 ANKH 56172 HP:0000006 Autosomal dominant inheritance OMIM:123000 ANKH 56172 HP:0000303 Mandibular prognathia OMIM:123000 ANKH 56172 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:123000 ANKH 56172 HP:0000692 Misalignment of teeth OMIM:123000 ANKH 56172 HP:0006384 Club-shaped distal femur OMIM:123000 ANKH 56172 HP:0000256 Macrocephaly OMIM:123000 ANKH 56172 HP:0000410 Mixed hearing impairment OMIM:123000 ANKH 56172 HP:0000316 Hypertelorism OMIM:123000 ANKH 56172 HP:0000925 Abnormality of the vertebral column OMIM:123000 ANKH 56172 HP:0003016 Metaphyseal widening OMIM:607417 CRBN 51185 HP:0000007 Autosomal recessive inheritance OMIM:607417 CRBN 51185 HP:0001256 Intellectual disability, mild OMIM:607417 CRBN 51185 HP:0001263 Global developmental delay OMIM:136800 COL8A2 1296 HP:0012040 Corneal stromal edema OMIM:136800 COL8A2 1296 HP:0007705 Corneal degeneration OMIM:136800 COL8A2 1296 HP:0012039 Descemet Membrane Folds OMIM:136800 COL8A2 1296 HP:0001131 Corneal dystrophy OMIM:136800 COL8A2 1296 HP:0012038 Corneal guttata OMIM:136800 COL8A2 1296 HP:0000006 Autosomal dominant inheritance OMIM:161400 HCRT 3060 HP:0002524 Cataplexy OMIM:161400 HCRT 3060 HP:0002330 Paroxysmal drowsiness OMIM:161400 HCRT 3060 HP:0030050 Narcolepsy OMIM:161400 HCRT 3060 HP:0000006 Autosomal dominant inheritance OMIM:161400 HCRT 3060 HP:0002519 Hypnagogic hallucinations OMIM:161400 HCRT 3060 HP:0001425 Heterogeneous OMIM:161400 HCRT 3060 HP:0006896 Hypnopompic hallucinations OMIM:161400 HCRT 3060 HP:0002189 Excessive daytime sleepiness OMIM:161400 HCRT 3060 HP:0002494 Abnormal rapid eye movement (REM) sleep OMIM:609821 P2RY12 64805 HP:0001934 Persistent bleeding after trauma OMIM:609821 P2RY12 64805 HP:0000421 Epistaxis OMIM:609821 P2RY12 64805 HP:0004846 Prolonged bleeding after surgery OMIM:609821 P2RY12 64805 HP:0004866 Impaired ADP-induced platelet aggregation OMIM:609821 P2RY12 64805 HP:0000978 Bruising susceptibility OMIM:609821 P2RY12 64805 HP:0000007 Autosomal recessive inheritance ORPHANET:654 DIS3L2 129563 HP:0100526 Neoplasm of the lung ORPHANET:654 DIS3L2 129563 HP:0000822 Hypertension ORPHANET:654 DIS3L2 129563 HP:0004370 Abnormality of temperature regulation ORPHANET:654 DIS3L2 129563 HP:0002896 Neoplasm of the liver ORPHANET:654 DIS3L2 129563 HP:0009726 Renal neoplasm ORPHANET:654 DIS3L2 129563 HP:0001824 Weight loss ORPHANET:654 DIS3L2 129563 HP:0002027 Abdominal pain ORPHANET:654 DIS3L2 129563 HP:0000790 Hematuria ORPHANET:654 DIS3L2 129563 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:654 DIS3L2 129563 HP:0002716 Lymphadenopathy ORPHANET:654 POU6F2 11281 HP:0100526 Neoplasm of the lung ORPHANET:654 POU6F2 11281 HP:0000822 Hypertension ORPHANET:654 POU6F2 11281 HP:0004370 Abnormality of temperature regulation ORPHANET:654 POU6F2 11281 HP:0002896 Neoplasm of the liver ORPHANET:654 POU6F2 11281 HP:0009726 Renal neoplasm ORPHANET:654 POU6F2 11281 HP:0001824 Weight loss ORPHANET:654 POU6F2 11281 HP:0002027 Abdominal pain ORPHANET:654 POU6F2 11281 HP:0000790 Hematuria ORPHANET:654 POU6F2 11281 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:654 POU6F2 11281 HP:0002716 Lymphadenopathy ORPHANET:654 H19 283120 HP:0100526 Neoplasm of the lung ORPHANET:654 H19 283120 HP:0000822 Hypertension ORPHANET:654 H19 283120 HP:0004370 Abnormality of temperature regulation ORPHANET:654 H19 283120 HP:0002896 Neoplasm of the liver ORPHANET:654 H19 283120 HP:0009726 Renal neoplasm ORPHANET:654 H19 283120 HP:0001824 Weight loss ORPHANET:654 H19 283120 HP:0002027 Abdominal pain ORPHANET:654 H19 283120 HP:0000790 Hematuria ORPHANET:654 H19 283120 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:654 H19 283120 HP:0002716 Lymphadenopathy ORPHANET:654 WT1 7490 HP:0100526 Neoplasm of the lung ORPHANET:654 WT1 7490 HP:0000822 Hypertension ORPHANET:654 WT1 7490 HP:0004370 Abnormality of temperature regulation ORPHANET:654 WT1 7490 HP:0002896 Neoplasm of the liver ORPHANET:654 WT1 7490 HP:0009726 Renal neoplasm ORPHANET:654 WT1 7490 HP:0001824 Weight loss ORPHANET:654 WT1 7490 HP:0002027 Abdominal pain ORPHANET:654 WT1 7490 HP:0000790 Hematuria ORPHANET:654 WT1 7490 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:654 WT1 7490 HP:0002716 Lymphadenopathy OMIM:612447 ZBTB16 7704 HP:0000252 Microcephaly OMIM:612447 ZBTB16 7704 HP:0000233 Thin vermilion border OMIM:612447 ZBTB16 7704 HP:0003038 Fibular hypoplasia OMIM:612447 ZBTB16 7704 HP:0000007 Autosomal recessive inheritance OMIM:612447 ZBTB16 7704 HP:0001249 Intellectual disability OMIM:612447 ZBTB16 7704 HP:0000160 Narrow mouth OMIM:612447 ZBTB16 7704 HP:0000028 Cryptorchidism OMIM:612447 ZBTB16 7704 HP:0005736 Short tibia OMIM:612447 ZBTB16 7704 HP:0002750 Delayed skeletal maturation OMIM:612447 ZBTB16 7704 HP:0003097 Short femur OMIM:612447 ZBTB16 7704 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:612447 ZBTB16 7704 HP:0000054 Micropenis OMIM:612447 ZBTB16 7704 HP:0005815 Supernumerary ribs OMIM:612447 ZBTB16 7704 HP:0000486 Strabismus OMIM:612447 ZBTB16 7704 HP:0009777 Absent thumb OMIM:612447 ZBTB16 7704 HP:0004322 Short stature OMIM:612447 ZBTB16 7704 HP:0003022 Hypoplasia of the ulna OMIM:600965 WFS1 7466 HP:0000408 Progressive sensorineural hearing impairment OMIM:600965 WFS1 7466 HP:0000006 Autosomal dominant inheritance OMIM:600965 WFS1 7466 HP:0008573 Low-frequency sensorineural hearing impairment OMIM:614707 SLC52A2 79581 HP:0002093 Respiratory insufficiency OMIM:614707 SLC52A2 79581 HP:0000718 Aggressive behavior OMIM:614707 SLC52A2 79581 HP:0003700 Generalized amyotrophy OMIM:614707 SLC52A2 79581 HP:0001283 Bulbar palsy OMIM:614707 SLC52A2 79581 HP:0003828 Variable expressivity OMIM:614707 SLC52A2 79581 HP:0001308 Tongue fasciculations OMIM:614707 SLC52A2 79581 HP:0000648 Optic atrophy OMIM:614707 SLC52A2 79581 HP:0001284 Areflexia OMIM:614707 SLC52A2 79581 HP:0002375 Hypokinesia OMIM:614707 SLC52A2 79581 HP:0001252 Muscular hypotonia OMIM:614707 SLC52A2 79581 HP:0010628 Facial palsy OMIM:614707 SLC52A2 79581 HP:0000007 Autosomal recessive inheritance OMIM:614707 SLC52A2 79581 HP:0000467 Neck muscle weakness OMIM:614707 SLC52A2 79581 HP:0002015 Dysphagia OMIM:614707 SLC52A2 79581 HP:0000407 Sensorineural hearing impairment OMIM:614707 SLC52A2 79581 HP:0002751 Kyphoscoliosis OMIM:614707 SLC52A2 79581 HP:0003676 Progressive disorder OMIM:614707 SLC52A2 79581 HP:0002312 Clumsiness OMIM:614707 SLC52A2 79581 HP:0000572 Visual loss OMIM:614707 SLC52A2 79581 HP:0000639 Nystagmus OMIM:614707 SLC52A2 79581 HP:0001992 Organic aciduria OMIM:614707 SLC52A2 79581 HP:0001171 Split hand OMIM:614707 SLC52A2 79581 HP:0001251 Ataxia OMIM:607626 CLDN1 9076 HP:0001409 Portal hypertension OMIM:607626 CLDN1 9076 HP:0000958 Dry skin OMIM:607626 CLDN1 9076 HP:0000956 Acanthosis nigricans OMIM:607626 CLDN1 9076 HP:0000653 Sparse eyelashes OMIM:607626 CLDN1 9076 HP:0002240 Hepatomegaly OMIM:607626 CLDN1 9076 HP:0001006 Hypotrichosis OMIM:607626 CLDN1 9076 HP:0008064 Ichthyosis OMIM:607626 CLDN1 9076 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:607626 CLDN1 9076 HP:0001871 Abnormality of blood and blood-forming tissues OMIM:607626 CLDN1 9076 HP:0001744 Splenomegaly OMIM:607626 CLDN1 9076 HP:0001036 Parakeratosis OMIM:607626 CLDN1 9076 HP:0009804 Reduced number of teeth OMIM:607626 CLDN1 9076 HP:0000952 Jaundice OMIM:607626 CLDN1 9076 HP:0030151 Cholangitis OMIM:607626 CLDN1 9076 HP:0000007 Autosomal recessive inheritance OMIM:607626 CLDN1 9076 HP:0000682 Abnormality of dental enamel OMIM:607626 CLDN1 9076 HP:0000499 Abnormality of the eyelashes OMIM:607626 CLDN1 9076 HP:0001596 Alopecia OMIM:607626 CLDN1 9076 HP:0000668 Hypodontia OMIM:607626 CLDN1 9076 HP:0000677 Oligodontia OMIM:607626 CLDN1 9076 HP:0006297 Hypoplasia of dental enamel OMIM:607626 CLDN1 9076 HP:0040162 Orthokeratosis OMIM:615005 KCNT1 57582 HP:0001249 Intellectual disability OMIM:615005 KCNT1 57582 HP:0000718 Aggressive behavior OMIM:615005 KCNT1 57582 HP:0000709 Psychosis OMIM:615005 KCNT1 57582 HP:0000006 Autosomal dominant inheritance OMIM:615005 KCNT1 57582 HP:0012075 Personality disorder OMIM:615005 KCNT1 57582 HP:0007359 Focal seizures OMIM:615005 KCNT1 57582 HP:0002133 Status epilepticus OMIM:615005 KCNT1 57582 HP:0100543 Cognitive impairment ORPHANET:96147 EHMT1 79813 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:96147 EHMT1 79813 HP:0000316 Hypertelorism ORPHANET:96147 EHMT1 79813 HP:0001671 Abnormality of the cardiac septa ORPHANET:96147 EHMT1 79813 HP:0002648 Abnormality of calvarial morphology ORPHANET:96147 EHMT1 79813 HP:0000083 Renal insufficiency ORPHANET:96147 EHMT1 79813 HP:0001250 Seizures ORPHANET:96147 EHMT1 79813 HP:0001679 Abnormality of the aorta ORPHANET:96147 EHMT1 79813 HP:0001252 Muscular hypotonia ORPHANET:96147 EHMT1 79813 HP:0000272 Malar flattening ORPHANET:96147 EHMT1 79813 HP:0002360 Sleep disturbance ORPHANET:96147 EHMT1 79813 HP:0100543 Cognitive impairment ORPHANET:96147 EHMT1 79813 HP:0002553 Highly arched eyebrow ORPHANET:96147 EHMT1 79813 HP:0000664 Synophrys ORPHANET:96147 EHMT1 79813 HP:0000076 Vesicoureteral reflux ORPHANET:96147 EHMT1 79813 HP:0001513 Obesity ORPHANET:96147 EHMT1 79813 HP:0008736 Hypoplasia of penis ORPHANET:96147 EHMT1 79813 HP:0000157 Abnormality of the tongue ORPHANET:96147 EHMT1 79813 HP:0001537 Umbilical hernia ORPHANET:96147 EHMT1 79813 HP:0002167 Neurological speech impairment ORPHANET:96147 EHMT1 79813 HP:0000463 Anteverted nares ORPHANET:96147 EHMT1 79813 HP:0002120 Cerebral cortical atrophy ORPHANET:96147 EHMT1 79813 HP:0003196 Short nose ORPHANET:96147 EHMT1 79813 HP:0001646 Abnormality of the aortic valve ORPHANET:96147 EHMT1 79813 HP:0001636 Tetralogy of Fallot ORPHANET:96147 EHMT1 79813 HP:0000232 Everted lower lip vermilion ORPHANET:96147 EHMT1 79813 HP:0000028 Cryptorchidism ORPHANET:96147 EHMT1 79813 HP:0002714 Downturned corners of mouth ORPHANET:96147 EHMT1 79813 HP:0000252 Microcephaly ORPHANET:96147 EHMT1 79813 HP:0000365 Hearing impairment ORPHANET:96147 EHMT1 79813 HP:0000717 Autism ORPHANET:96147 EHMT1 79813 HP:0002119 Ventriculomegaly OMIM:133020 SCN9A 6335 HP:0003011 Abnormality of the musculature OMIM:133020 SCN9A 6335 HP:0001962 Palpitations OMIM:133020 SCN9A 6335 HP:0002459 Dysautonomia OMIM:133020 SCN9A 6335 HP:0003621 Juvenile onset OMIM:133020 SCN9A 6335 HP:0000217 Xerostomia OMIM:133020 SCN9A 6335 HP:0003326 Myalgia OMIM:133020 SCN9A 6335 HP:0002014 Diarrhea OMIM:133020 SCN9A 6335 HP:0002019 Constipation OMIM:133020 SCN9A 6335 HP:0012531 Pain OMIM:133020 SCN9A 6335 HP:0000006 Autosomal dominant inheritance OMIM:133020 SCN9A 6335 HP:0000975 Hyperhidrosis OMIM:133020 SCN9A 6335 HP:0000622 Blurred vision OMIM:611884 DNAH11 8701 HP:0012265 Ciliary dyskinesia OMIM:611884 DNAH11 8701 HP:0000007 Autosomal recessive inheritance OMIM:611884 DNAH11 8701 HP:0001696 Situs inversus totalis OMIM:611884 DNAH11 8701 HP:0002205 Recurrent respiratory infections OMIM:611884 DNAH11 8701 HP:0002110 Bronchiectasis OMIM:114000 COL1A1 1277 HP:0000324 Facial asymmetry OMIM:114000 COL1A1 1277 HP:0004490 Calvarial hyperostosis OMIM:114000 COL1A1 1277 HP:0005731 Cortical irregularity OMIM:114000 COL1A1 1277 HP:0004493 Craniofacial hyperostosis OMIM:114000 COL1A1 1277 HP:0010702 Hypergammaglobulinemia OMIM:114000 COL1A1 1277 HP:0100658 Cellulitis OMIM:114000 COL1A1 1277 HP:0000520 Proptosis OMIM:114000 COL1A1 1277 HP:0002650 Scoliosis OMIM:114000 COL1A1 1277 HP:0008872 Feeding difficulties in infancy OMIM:114000 COL1A1 1277 HP:0001945 Fever OMIM:114000 COL1A1 1277 HP:0000708 Behavioral abnormality OMIM:114000 COL1A1 1277 HP:0002093 Respiratory insufficiency OMIM:114000 COL1A1 1277 HP:0006465 Periosteal thickening of long tubular bones OMIM:114000 COL1A1 1277 HP:0001974 Leukocytosis OMIM:114000 COL1A1 1277 HP:0002982 Tibial bowing OMIM:114000 COL1A1 1277 HP:0000006 Autosomal dominant inheritance OMIM:615922 PRPF4 9128 HP:0000543 Optic disc pallor OMIM:615922 PRPF4 9128 HP:0000510 Retinitis pigmentosa OMIM:615922 PRPF4 9128 HP:0000546 Retinal degeneration OMIM:606719 CDKN2A 1029 HP:0002861 Melanoma OMIM:606719 CDKN2A 1029 HP:0006725 Pancreatic adenocarcinoma OMIM:606719 CDKN2A 1029 HP:0002860 Squamous cell carcinoma OMIM:606719 CDKN2A 1029 HP:0100242 Sarcoma OMIM:606719 CDKN2A 1029 HP:0012182 Oropharyngeal squamous cell carcinoma OMIM:606719 CDKN2A 1029 HP:0012142 Pancreatic squamous cell carcinoma OMIM:606719 CDKN2A 1029 HP:0000006 Autosomal dominant inheritance OMIM:211980 ERBB2 2064 HP:0006519 Alveolar cell carcinoma OMIM:211980 ERBB2 2064 HP:0000007 Autosomal recessive inheritance OMIM:211980 EGFR 1956 HP:0006519 Alveolar cell carcinoma OMIM:211980 EGFR 1956 HP:0000007 Autosomal recessive inheritance OMIM:211980 IRF1 3659 HP:0006519 Alveolar cell carcinoma OMIM:211980 IRF1 3659 HP:0000007 Autosomal recessive inheritance OMIM:211980 SLC22A18 5002 HP:0006519 Alveolar cell carcinoma OMIM:211980 SLC22A18 5002 HP:0000007 Autosomal recessive inheritance OMIM:211980 PARK2 5071 HP:0006519 Alveolar cell carcinoma OMIM:211980 PARK2 5071 HP:0000007 Autosomal recessive inheritance OMIM:211980 MAP3K8 1326 HP:0006519 Alveolar cell carcinoma OMIM:211980 MAP3K8 1326 HP:0000007 Autosomal recessive inheritance OMIM:211980 DLEC1 9940 HP:0006519 Alveolar cell carcinoma OMIM:211980 DLEC1 9940 HP:0000007 Autosomal recessive inheritance OMIM:211980 PIK3CA 5290 HP:0006519 Alveolar cell carcinoma OMIM:211980 PIK3CA 5290 HP:0000007 Autosomal recessive inheritance OMIM:211980 KRAS 3845 HP:0006519 Alveolar cell carcinoma OMIM:211980 KRAS 3845 HP:0000007 Autosomal recessive inheritance OMIM:211980 RASSF1 11186 HP:0006519 Alveolar cell carcinoma OMIM:211980 RASSF1 11186 HP:0000007 Autosomal recessive inheritance OMIM:211980 PPP2R1B 5519 HP:0006519 Alveolar cell carcinoma OMIM:211980 PPP2R1B 5519 HP:0000007 Autosomal recessive inheritance OMIM:211980 BRAF 673 HP:0006519 Alveolar cell carcinoma OMIM:211980 BRAF 673 HP:0000007 Autosomal recessive inheritance OMIM:601358 SMARCA2 6595 HP:0001250 Seizures OMIM:601358 SMARCA2 6595 HP:0001344 Absent speech OMIM:601358 SMARCA2 6595 HP:0001852 Sandal gap OMIM:601358 SMARCA2 6595 HP:0000718 Aggressive behavior OMIM:601358 SMARCA2 6595 HP:0000154 Wide mouth OMIM:601358 SMARCA2 6595 HP:0000028 Cryptorchidism OMIM:601358 SMARCA2 6595 HP:0000232 Everted lower lip vermilion OMIM:601358 SMARCA2 6595 HP:0001511 Intrauterine growth retardation OMIM:601358 SMARCA2 6595 HP:0000252 Microcephaly OMIM:601358 SMARCA2 6595 HP:0000174 Abnormality of the palate OMIM:601358 SMARCA2 6595 HP:0002650 Scoliosis OMIM:601358 SMARCA2 6595 HP:0012810 Wide nasal base OMIM:601358 SMARCA2 6595 HP:0002465 Poor speech OMIM:601358 SMARCA2 6595 HP:0001163 Abnormality of the metacarpal bones OMIM:601358 SMARCA2 6595 HP:0001367 Abnormal joint morphology OMIM:601358 SMARCA2 6595 HP:0100760 Clubbing of toes OMIM:601358 SMARCA2 6595 HP:0000343 Long philtrum OMIM:601358 SMARCA2 6595 HP:0001156 Brachydactyly syndrome OMIM:601358 SMARCA2 6595 HP:0100543 Cognitive impairment OMIM:601358 SMARCA2 6595 HP:0001508 Failure to thrive OMIM:601358 SMARCA2 6595 HP:0010049 Short metacarpal OMIM:601358 SMARCA2 6595 HP:0002564 Malformation of the heart and great vessels OMIM:601358 SMARCA2 6595 HP:0000446 Narrow nasal bridge OMIM:601358 SMARCA2 6595 HP:0000289 Broad philtrum OMIM:601358 SMARCA2 6595 HP:0010864 Intellectual disability, severe OMIM:601358 SMARCA2 6595 HP:0000179 Thick lower lip vermilion OMIM:601358 SMARCA2 6595 HP:0000233 Thin vermilion border OMIM:601358 SMARCA2 6595 HP:0007946 Unilateral narrow palpebral fissure OMIM:601358 SMARCA2 6595 HP:0009803 Short phalanx of finger OMIM:601358 SMARCA2 6595 HP:0002167 Neurological speech impairment OMIM:601358 SMARCA2 6595 HP:0000494 Downslanted palpebral fissures OMIM:601358 SMARCA2 6595 HP:0002553 Highly arched eyebrow OMIM:601358 SMARCA2 6595 HP:0004322 Short stature OMIM:601358 SMARCA2 6595 HP:0000325 Triangular face OMIM:601358 SMARCA2 6595 HP:0006237 Prominent interphalangeal joints OMIM:601358 SMARCA2 6595 HP:0000499 Abnormality of the eyelashes OMIM:601358 SMARCA2 6595 HP:0000687 Widely spaced teeth OMIM:601358 SMARCA2 6595 HP:0002750 Delayed skeletal maturation OMIM:601358 SMARCA2 6595 HP:0000294 Low anterior hairline OMIM:601358 SMARCA2 6595 HP:0000463 Anteverted nares OMIM:601358 SMARCA2 6595 HP:0009832 Abnormality of the distal phalanx of finger OMIM:601358 SMARCA2 6595 HP:0011362 Abnormal hair quantity OMIM:601358 SMARCA2 6595 HP:0010743 Short metatarsal OMIM:601358 SMARCA2 6595 HP:0100790 Hernia OMIM:601358 SMARCA2 6595 HP:0000964 Eczema OMIM:601358 SMARCA2 6595 HP:0005930 Abnormality of epiphysis morphology OMIM:601358 SMARCA2 6595 HP:0004404 Abnormality of the nipple OMIM:601358 SMARCA2 6595 HP:0000581 Blepharophimosis OMIM:601358 SMARCA2 6595 HP:0005616 Accelerated skeletal maturation OMIM:601358 SMARCA2 6595 HP:0002209 Sparse scalp hair OMIM:613750 NRL 4901 HP:0000662 Night blindness OMIM:613750 NRL 4901 HP:0000006 Autosomal dominant inheritance OMIM:613750 NRL 4901 HP:0040049 Macular edema OMIM:613750 NRL 4901 HP:0000550 Abolished electroretinogram (ERG) OMIM:613750 NRL 4901 HP:0000510 Retinitis pigmentosa OMIM:613750 NRL 4901 HP:0007950 Peripapillary chorioretinal atrophy OMIM:613750 NRL 4901 HP:0000505 Visual impairment OMIM:613750 NRL 4901 HP:0000533 Chorioretinal atrophy OMIM:147050 SPINK5 11005 HP:0000006 Autosomal dominant inheritance OMIM:147050 SPINK5 11005 HP:0003212 Increased IgE level OMIM:147050 SPINK5 11005 HP:0000964 Eczema OMIM:147050 SPINK5 11005 HP:0002099 Asthma OMIM:607765 HSD3B7 80270 HP:0002240 Hepatomegaly OMIM:607765 HSD3B7 80270 HP:0000007 Autosomal recessive inheritance OMIM:607765 HSD3B7 80270 HP:0001394 Cirrhosis OMIM:607765 HSD3B7 80270 HP:0002910 Elevated hepatic transaminases OMIM:607765 HSD3B7 80270 HP:0002239 Gastrointestinal hemorrhage OMIM:607765 HSD3B7 80270 HP:0001399 Hepatic failure OMIM:607765 HSD3B7 80270 HP:0002014 Diarrhea OMIM:607765 HSD3B7 80270 HP:0003623 Neonatal onset OMIM:607765 HSD3B7 80270 HP:0011985 Acholic stools OMIM:607765 HSD3B7 80270 HP:0001744 Splenomegaly OMIM:607765 HSD3B7 80270 HP:0200084 Giant cell hepatitis OMIM:607765 HSD3B7 80270 HP:0009830 Peripheral neuropathy OMIM:607765 HSD3B7 80270 HP:0004349 Reduced bone mineral density OMIM:607765 HSD3B7 80270 HP:0001406 Intrahepatic cholestasis OMIM:607765 HSD3B7 80270 HP:0003146 Hypocholesterolemia OMIM:607765 HSD3B7 80270 HP:0001928 Abnormality of coagulation OMIM:607765 HSD3B7 80270 HP:0000662 Night blindness OMIM:607765 HSD3B7 80270 HP:0003256 Abnormality of the coagulation cascade OMIM:607765 HSD3B7 80270 HP:0000989 Pruritus OMIM:607765 HSD3B7 80270 HP:0002904 Hyperbilirubinemia OMIM:607765 HSD3B7 80270 HP:0000952 Jaundice OMIM:607765 HSD3B7 80270 HP:0001508 Failure to thrive OMIM:607765 HSD3B7 80270 HP:0002570 Steatorrhea OMIM:138300 GSR 2936 HP:0001878 Hemolytic anemia OMIM:138300 GSR 2936 HP:0000007 Autosomal recessive inheritance OMIM:138300 GSR 2936 HP:0001939 Abnormality of metabolism/homeostasis OMIM:610582 KCNJ11 3767 HP:0000006 Autosomal dominant inheritance OMIM:610582 KCNJ11 3767 HP:0008255 Transient neonatal diabetes mellitus OMIM:613500 IGLL1 3543 HP:0001287 Meningitis OMIM:613500 IGLL1 3543 HP:0003593 Infantile onset OMIM:613500 IGLL1 3543 HP:0002718 Recurrent bacterial infections OMIM:613500 IGLL1 3543 HP:0000007 Autosomal recessive inheritance OMIM:613500 IGLL1 3543 HP:0004432 Agammaglobulinemia OMIM:613500 IGLL1 3543 HP:0006532 Recurrent pneumonia OMIM:614654 COQ9 57017 HP:0001263 Global developmental delay OMIM:614654 COQ9 57017 HP:0001612 Weak cry OMIM:614654 COQ9 57017 HP:0002151 Increased serum lactate OMIM:614654 COQ9 57017 HP:0002059 Cerebral atrophy OMIM:614654 COQ9 57017 HP:0001347 Hyperreflexia OMIM:614654 COQ9 57017 HP:0005484 Postnatal microcephaly OMIM:614654 COQ9 57017 HP:0000007 Autosomal recessive inheritance OMIM:614654 COQ9 57017 HP:0011968 Feeding difficulties OMIM:614654 COQ9 57017 HP:0003128 Lactic acidosis OMIM:614654 COQ9 57017 HP:0001272 Cerebellar atrophy OMIM:614654 COQ9 57017 HP:0001712 Left ventricular hypertrophy OMIM:614654 COQ9 57017 HP:0001250 Seizures OMIM:614654 COQ9 57017 HP:0001252 Muscular hypotonia OMIM:209920 RFX5 5993 HP:0001508 Failure to thrive OMIM:209920 RFX5 5993 HP:0002383 Encephalitis OMIM:209920 RFX5 5993 HP:0003139 Panhypogammaglobulinemia OMIM:209920 RFX5 5993 HP:0002718 Recurrent bacterial infections OMIM:209920 RFX5 5993 HP:0002783 Recurrent lower respiratory tract infections OMIM:209920 RFX5 5993 HP:0002788 Recurrent upper respiratory tract infections OMIM:209920 RFX5 5993 HP:0004385 Protracted diarrhea OMIM:209920 RFX5 5993 HP:0011473 Villous atrophy OMIM:209920 RFX5 5993 HP:0000006 Autosomal dominant inheritance OMIM:209920 RFX5 5993 HP:0006562 Viral hepatitis OMIM:209920 RFX5 5993 HP:0004432 Agammaglobulinemia OMIM:209920 RFX5 5993 HP:0000007 Autosomal recessive inheritance OMIM:209920 RFX5 5993 HP:0001080 Biliary tract abnormality OMIM:209920 RFX5 5993 HP:0002728 Chronic mucocutaneous candidiasis OMIM:209920 RFX5 5993 HP:0004429 Recurrent viral infections OMIM:209920 RFX5 5993 HP:0002841 Recurrent fungal infections OMIM:209920 RFX5 5993 HP:0007041 Chronic lymphocytic meningitis OMIM:209920 RFX5 5993 HP:0005386 Recurrent protozoan infections OMIM:209920 RFX5 5993 HP:0001875 Neutropenia OMIM:209920 RFX5 5993 HP:0000010 Recurrent urinary tract infections OMIM:209920 RFX5 5993 HP:0002024 Malabsorption OMIM:209920 RFX5 5993 HP:0002583 Colitis OMIM:209920 RFX5 5993 HP:0002965 Cutaneous anergy OMIM:209920 RFXAP 5994 HP:0001508 Failure to thrive OMIM:209920 RFXAP 5994 HP:0002383 Encephalitis OMIM:209920 RFXAP 5994 HP:0003139 Panhypogammaglobulinemia OMIM:209920 RFXAP 5994 HP:0002718 Recurrent bacterial infections OMIM:209920 RFXAP 5994 HP:0002783 Recurrent lower respiratory tract infections OMIM:209920 RFXAP 5994 HP:0002788 Recurrent upper respiratory tract infections OMIM:209920 RFXAP 5994 HP:0004385 Protracted diarrhea OMIM:209920 RFXAP 5994 HP:0011473 Villous atrophy OMIM:209920 RFXAP 5994 HP:0000006 Autosomal dominant inheritance OMIM:209920 RFXAP 5994 HP:0006562 Viral hepatitis OMIM:209920 RFXAP 5994 HP:0004432 Agammaglobulinemia OMIM:209920 RFXAP 5994 HP:0000007 Autosomal recessive inheritance OMIM:209920 RFXAP 5994 HP:0001080 Biliary tract abnormality OMIM:209920 RFXAP 5994 HP:0002728 Chronic mucocutaneous candidiasis OMIM:209920 RFXAP 5994 HP:0004429 Recurrent viral infections OMIM:209920 RFXAP 5994 HP:0002841 Recurrent fungal infections OMIM:209920 RFXAP 5994 HP:0007041 Chronic lymphocytic meningitis OMIM:209920 RFXAP 5994 HP:0005386 Recurrent protozoan infections OMIM:209920 RFXAP 5994 HP:0001875 Neutropenia OMIM:209920 RFXAP 5994 HP:0000010 Recurrent urinary tract infections OMIM:209920 RFXAP 5994 HP:0002024 Malabsorption OMIM:209920 RFXAP 5994 HP:0002583 Colitis OMIM:209920 RFXAP 5994 HP:0002965 Cutaneous anergy OMIM:209920 RFXANK 8625 HP:0001508 Failure to thrive OMIM:209920 RFXANK 8625 HP:0002383 Encephalitis OMIM:209920 RFXANK 8625 HP:0003139 Panhypogammaglobulinemia OMIM:209920 RFXANK 8625 HP:0002718 Recurrent bacterial infections OMIM:209920 RFXANK 8625 HP:0002783 Recurrent lower respiratory tract infections OMIM:209920 RFXANK 8625 HP:0002788 Recurrent upper respiratory tract infections OMIM:209920 RFXANK 8625 HP:0004385 Protracted diarrhea OMIM:209920 RFXANK 8625 HP:0011473 Villous atrophy OMIM:209920 RFXANK 8625 HP:0000006 Autosomal dominant inheritance OMIM:209920 RFXANK 8625 HP:0006562 Viral hepatitis OMIM:209920 RFXANK 8625 HP:0004432 Agammaglobulinemia OMIM:209920 RFXANK 8625 HP:0000007 Autosomal recessive inheritance OMIM:209920 RFXANK 8625 HP:0001080 Biliary tract abnormality OMIM:209920 RFXANK 8625 HP:0002728 Chronic mucocutaneous candidiasis OMIM:209920 RFXANK 8625 HP:0004429 Recurrent viral infections OMIM:209920 RFXANK 8625 HP:0002841 Recurrent fungal infections OMIM:209920 RFXANK 8625 HP:0007041 Chronic lymphocytic meningitis OMIM:209920 RFXANK 8625 HP:0005386 Recurrent protozoan infections OMIM:209920 RFXANK 8625 HP:0001875 Neutropenia OMIM:209920 RFXANK 8625 HP:0000010 Recurrent urinary tract infections OMIM:209920 RFXANK 8625 HP:0002024 Malabsorption OMIM:209920 RFXANK 8625 HP:0002583 Colitis OMIM:209920 RFXANK 8625 HP:0002965 Cutaneous anergy OMIM:209920 CIITA 4261 HP:0001508 Failure to thrive OMIM:209920 CIITA 4261 HP:0002383 Encephalitis OMIM:209920 CIITA 4261 HP:0003139 Panhypogammaglobulinemia OMIM:209920 CIITA 4261 HP:0002718 Recurrent bacterial infections OMIM:209920 CIITA 4261 HP:0002783 Recurrent lower respiratory tract infections OMIM:209920 CIITA 4261 HP:0002788 Recurrent upper respiratory tract infections OMIM:209920 CIITA 4261 HP:0004385 Protracted diarrhea OMIM:209920 CIITA 4261 HP:0011473 Villous atrophy OMIM:209920 CIITA 4261 HP:0000006 Autosomal dominant inheritance OMIM:209920 CIITA 4261 HP:0006562 Viral hepatitis OMIM:209920 CIITA 4261 HP:0004432 Agammaglobulinemia OMIM:209920 CIITA 4261 HP:0000007 Autosomal recessive inheritance OMIM:209920 CIITA 4261 HP:0001080 Biliary tract abnormality OMIM:209920 CIITA 4261 HP:0002728 Chronic mucocutaneous candidiasis OMIM:209920 CIITA 4261 HP:0004429 Recurrent viral infections OMIM:209920 CIITA 4261 HP:0002841 Recurrent fungal infections OMIM:209920 CIITA 4261 HP:0007041 Chronic lymphocytic meningitis OMIM:209920 CIITA 4261 HP:0005386 Recurrent protozoan infections OMIM:209920 CIITA 4261 HP:0001875 Neutropenia OMIM:209920 CIITA 4261 HP:0000010 Recurrent urinary tract infections OMIM:209920 CIITA 4261 HP:0002024 Malabsorption OMIM:209920 CIITA 4261 HP:0002583 Colitis OMIM:209920 CIITA 4261 HP:0002965 Cutaneous anergy OMIM:175100 APC 324 HP:0006771 Duodenal adenocarcinoma OMIM:175100 APC 324 HP:0003828 Variable expressivity OMIM:175100 APC 324 HP:0002884 Hepatoblastoma OMIM:175100 APC 324 HP:0006722 Small intestine carcinoid OMIM:175100 APC 324 HP:0004375 Neoplasm of the nervous system OMIM:175100 APC 324 HP:0100612 Odontogenic neoplasm OMIM:175100 APC 324 HP:0002885 Medulloblastoma OMIM:175100 APC 324 HP:0010619 Fibroadenoma of the breast OMIM:175100 APC 324 HP:0007649 Congenital hypertrophy of retinal pigment epithelium OMIM:175100 APC 324 HP:0004783 Duodenal polyposis OMIM:175100 APC 324 HP:0100273 Neoplasm of the colon OMIM:175100 APC 324 HP:0006744 Adrenocortical carcinoma OMIM:175100 APC 324 HP:0001012 Multiple lipomas OMIM:175100 APC 324 HP:0000684 Delayed eruption of teeth OMIM:175100 APC 324 HP:0011068 Odontoma OMIM:175100 APC 324 HP:0000006 Autosomal dominant inheritance OMIM:175100 APC 324 HP:0011069 Increased number of teeth OMIM:175100 APC 324 HP:0010562 Keloids OMIM:175100 APC 324 HP:0002895 Papillary thyroid carcinoma OMIM:175100 APC 324 HP:0200040 Epidermoid cyst OMIM:175100 APC 324 HP:0005227 Adenomatous colonic polyposis OMIM:175100 APC 324 HP:0000706 Unerupted tooth OMIM:175100 APC 324 HP:0100246 Osteoma OMIM:175100 APC 324 HP:0100245 Desmoid tumors OMIM:175100 APC 324 HP:0000670 Carious teeth OMIM:175100 APC 324 HP:0100242 Sarcoma OMIM:175100 APC 324 HP:0008256 Adrenocortical adenoma OMIM:175100 APC 324 HP:0003003 Colon cancer OMIM:175100 APC 324 HP:0007400 Irregular hyperpigmentation OMIM:175100 APC 324 HP:0000953 Hyperpigmentation of the skin OMIM:175100 APC 324 HP:0009592 Astrocytoma OMIM:175100 APC 324 HP:0004394 Multiple gastric polyps OMIM:175100 APC 324 HP:0200008 Intestinal polyposis OMIM:241850 FOXE1 2304 HP:0000453 Choanal atresia OMIM:241850 FOXE1 2304 HP:0000821 Hypothyroidism OMIM:241850 FOXE1 2304 HP:0008191 Thyroid agenesis OMIM:241850 FOXE1 2304 HP:0000175 Cleft palate OMIM:241850 FOXE1 2304 HP:0100543 Cognitive impairment OMIM:241850 FOXE1 2304 HP:0001561 Polyhydramnios OMIM:241850 FOXE1 2304 HP:0000202 Oral cleft OMIM:241850 FOXE1 2304 HP:0000007 Autosomal recessive inheritance OMIM:241850 FOXE1 2304 HP:0000347 Micrognathia OMIM:241850 FOXE1 2304 HP:0003777 Pili torti OMIM:241850 FOXE1 2304 HP:0010564 Bifid epiglottis OMIM:241850 FOXE1 2304 HP:0011362 Abnormal hair quantity OMIM:609141 ZEB1 6935 HP:0012038 Corneal guttata OMIM:609141 ZEB1 6935 HP:0000023 Inguinal hernia OMIM:609141 ZEB1 6935 HP:0001131 Corneal dystrophy OMIM:609141 ZEB1 6935 HP:0000006 Autosomal dominant inheritance OMIM:300143 IL1RAPL1 11141 HP:0001250 Seizures OMIM:300143 IL1RAPL1 11141 HP:0001382 Joint hypermobility OMIM:300143 IL1RAPL1 11141 HP:0003196 Short nose OMIM:300143 IL1RAPL1 11141 HP:0000582 Upslanted palpebral fissure OMIM:300143 IL1RAPL1 11141 HP:0010804 Tented upper lip vermilion OMIM:300143 IL1RAPL1 11141 HP:0000194 Open mouth OMIM:300143 IL1RAPL1 11141 HP:0001419 X-linked recessive inheritance OMIM:300143 IL1RAPL1 11141 HP:0000664 Synophrys OMIM:300143 IL1RAPL1 11141 HP:0000752 Hyperactivity OMIM:300143 IL1RAPL1 11141 HP:0000303 Mandibular prognathia OMIM:300143 IL1RAPL1 11141 HP:0000316 Hypertelorism OMIM:300143 IL1RAPL1 11141 HP:0000678 Dental crowding OMIM:300143 IL1RAPL1 11141 HP:0009909 Uplifted earlobe OMIM:300143 IL1RAPL1 11141 HP:0000717 Autism OMIM:300143 IL1RAPL1 11141 HP:0002342 Intellectual disability, moderate OMIM:611773 COL4A1 1282 HP:0004944 Cerebral aneurysm OMIM:611773 COL4A1 1282 HP:0001297 Stroke OMIM:611773 COL4A1 1282 HP:0000107 Renal cyst OMIM:611773 COL4A1 1282 HP:0000006 Autosomal dominant inheritance OMIM:611773 COL4A1 1282 HP:0000083 Renal insufficiency OMIM:611773 COL4A1 1282 HP:0001136 Retinal arteriolar tortuosity OMIM:611773 COL4A1 1282 HP:0003394 Muscle cramps OMIM:611773 COL4A1 1282 HP:0000573 Retinal hemorrhage OMIM:611773 COL4A1 1282 HP:0002352 Leukoencephalopathy OMIM:611773 COL4A1 1282 HP:0005115 Supraventricular arrhythmia OMIM:611773 COL4A1 1282 HP:0000790 Hematuria OMIM:611773 COL4A1 1282 HP:0000112 Nephropathy OMIM:614152 DIABLO 56616 HP:0000006 Autosomal dominant inheritance OMIM:614152 DIABLO 56616 HP:0003676 Progressive disorder OMIM:614152 DIABLO 56616 HP:0000407 Sensorineural hearing impairment OMIM:612936 AP4M1 9179 HP:0002119 Ventriculomegaly OMIM:612936 AP4M1 9179 HP:0000252 Microcephaly OMIM:612936 AP4M1 9179 HP:0002510 Spastic tetraplegia OMIM:612936 AP4M1 9179 HP:0002200 Pseudobulbar signs OMIM:612936 AP4M1 9179 HP:0002171 Gliosis OMIM:612936 AP4M1 9179 HP:0001272 Cerebellar atrophy OMIM:612936 AP4M1 9179 HP:0001319 Neonatal hypotonia OMIM:612936 AP4M1 9179 HP:0000303 Mandibular prognathia OMIM:612936 AP4M1 9179 HP:0100021 Cerebral palsy OMIM:612936 AP4M1 9179 HP:0003487 Babinski sign OMIM:612936 AP4M1 9179 HP:0002307 Drooling OMIM:612936 AP4M1 9179 HP:0001347 Hyperreflexia OMIM:612936 AP4M1 9179 HP:0001258 Spastic paraplegia OMIM:612936 AP4M1 9179 HP:0006887 Intellectual disability, progressive OMIM:612936 AP4M1 9179 HP:0003577 Congenital onset OMIM:612936 AP4M1 9179 HP:0000486 Strabismus OMIM:612936 AP4M1 9179 HP:0001181 Adducted thumb OMIM:612936 AP4M1 9179 HP:0000007 Autosomal recessive inheritance OMIM:612936 AP4M1 9179 HP:0001762 Talipes equinovarus OMIM:612936 AP4M1 9179 HP:0010864 Intellectual disability, severe OMIM:145410 SPECC1L 23384 HP:0000028 Cryptorchidism OMIM:145410 SPECC1L 23384 HP:0000506 Telecanthus OMIM:145410 SPECC1L 23384 HP:0000267 Cranial asymmetry OMIM:145410 SPECC1L 23384 HP:0000405 Conductive hearing impairment OMIM:145410 SPECC1L 23384 HP:0000219 Thin upper lip vermilion OMIM:145410 SPECC1L 23384 HP:0000486 Strabismus OMIM:145410 SPECC1L 23384 HP:0000319 Smooth philtrum OMIM:145410 SPECC1L 23384 HP:0002036 Hiatus hernia OMIM:145410 SPECC1L 23384 HP:0000286 Epicanthus OMIM:145410 SPECC1L 23384 HP:0001537 Umbilical hernia OMIM:145410 SPECC1L 23384 HP:0001320 Cerebellar vermis hypoplasia OMIM:145410 SPECC1L 23384 HP:0002835 Aspiration OMIM:145410 SPECC1L 23384 HP:0000069 Abnormality of the ureter OMIM:145410 SPECC1L 23384 HP:0000200 Short lingual frenulum OMIM:145410 SPECC1L 23384 HP:0002389 Cavum septum pellucidum OMIM:145410 SPECC1L 23384 HP:0001631 Defect in the atrial septum OMIM:145410 SPECC1L 23384 HP:0011220 Prominent forehead OMIM:145410 SPECC1L 23384 HP:0001629 Ventricular septal defect OMIM:145410 SPECC1L 23384 HP:0000023 Inguinal hernia OMIM:145410 SPECC1L 23384 HP:0002025 Anal stenosis OMIM:145410 SPECC1L 23384 HP:0008751 Laryngeal cleft OMIM:145410 SPECC1L 23384 HP:0001263 Global developmental delay OMIM:145410 SPECC1L 23384 HP:0002575 Tracheoesophageal fistula OMIM:145410 SPECC1L 23384 HP:0000193 Bifid uvula OMIM:145410 SPECC1L 23384 HP:0000494 Downslanted palpebral fissures OMIM:145410 SPECC1L 23384 HP:0001540 Diastasis recti OMIM:145410 SPECC1L 23384 HP:0002089 Pulmonary hypoplasia OMIM:145410 SPECC1L 23384 HP:0002023 Anal atresia OMIM:145410 SPECC1L 23384 HP:0002092 Pulmonary hypertension OMIM:145410 SPECC1L 23384 HP:0000175 Cleft palate OMIM:145410 SPECC1L 23384 HP:0001680 Coarctation of aorta OMIM:145410 SPECC1L 23384 HP:0002119 Ventriculomegaly OMIM:145410 SPECC1L 23384 HP:0001643 Patent ductus arteriosus OMIM:145410 SPECC1L 23384 HP:0000431 Wide nasal bridge OMIM:145410 SPECC1L 23384 HP:0000048 Bifid scrotum OMIM:145410 SPECC1L 23384 HP:0001363 Craniosynostosis OMIM:145410 SPECC1L 23384 HP:0001252 Muscular hypotonia OMIM:145410 SPECC1L 23384 HP:0000006 Autosomal dominant inheritance OMIM:145410 SPECC1L 23384 HP:0000047 Hypospadias OMIM:145410 SPECC1L 23384 HP:0002120 Cerebral cortical atrophy OMIM:145410 SPECC1L 23384 HP:0001612 Weak cry OMIM:145410 SPECC1L 23384 HP:0000358 Posteriorly rotated ears OMIM:145410 SPECC1L 23384 HP:0000218 High palate OMIM:145410 SPECC1L 23384 HP:0000077 Abnormality of the kidney OMIM:145410 SPECC1L 23384 HP:0000204 Cleft upper lip OMIM:145410 SPECC1L 23384 HP:0001274 Agenesis of corpus callosum OMIM:145410 SPECC1L 23384 HP:0006817 Aplasia/Hypoplasia of the cerebellar vermis OMIM:145410 SPECC1L 23384 HP:0001249 Intellectual disability OMIM:145410 SPECC1L 23384 HP:0011467 Absent gallbladder OMIM:145410 SPECC1L 23384 HP:0000349 Widow's peak OMIM:145410 SPECC1L 23384 HP:0002015 Dysphagia OMIM:145410 SPECC1L 23384 HP:0000316 Hypertelorism OMIM:145410 SPECC1L 23384 HP:0000347 Micrognathia OMIM:145410 SPECC1L 23384 HP:0005280 Depressed nasal bridge OMIM:145410 SPECC1L 23384 HP:0002007 Frontal bossing OMIM:609306 EEF2 1938 HP:0003581 Adult onset OMIM:609306 EEF2 1938 HP:0000641 Dysmetric saccades OMIM:609306 EEF2 1938 HP:0001151 Impaired horizontal smooth pursuit OMIM:609306 EEF2 1938 HP:0002066 Gait ataxia OMIM:609306 EEF2 1938 HP:0003677 Slow progression OMIM:609306 EEF2 1938 HP:0002070 Limb ataxia OMIM:609306 EEF2 1938 HP:0002078 Truncal ataxia OMIM:609306 EEF2 1938 HP:0000006 Autosomal dominant inheritance OMIM:609306 EEF2 1938 HP:0002311 Incoordination OMIM:609306 EEF2 1938 HP:0001272 Cerebellar atrophy OMIM:609306 EEF2 1938 HP:0001260 Dysarthria OMIM:609306 EEF2 1938 HP:0000639 Nystagmus OMIM:614373 SIGMAR1 10280 HP:0001347 Hyperreflexia OMIM:614373 SIGMAR1 10280 HP:0001257 Spasticity OMIM:614373 SIGMAR1 10280 HP:0007354 Amyotrophic lateral sclerosis OMIM:614373 SIGMAR1 10280 HP:0002366 Abnormal lower motor neuron morphology OMIM:614373 SIGMAR1 10280 HP:0003677 Slow progression OMIM:614373 SIGMAR1 10280 HP:0000007 Autosomal recessive inheritance OMIM:614373 SIGMAR1 10280 HP:0002127 Abnormal upper motor neuron morphology OMIM:125420 DSPP 1834 HP:0000006 Autosomal dominant inheritance OMIM:125420 DSPP 1834 HP:0011060 Dentinogenesis imperfecta limited to primary teeth OMIM:125420 DSPP 1834 HP:0003771 Pulp stones OMIM:606721 CAV1 857 HP:0007485 Absence of subcutaneous fat OMIM:606721 CAV1 857 HP:0000271 Abnormality of the face OMIM:606721 CAV1 857 HP:0001733 Pancreatitis OMIM:606721 CAV1 857 HP:0003487 Babinski sign OMIM:606721 CAV1 857 HP:0000833 Glucose intolerance OMIM:606721 CAV1 857 HP:0002155 Hypertriglyceridemia OMIM:606721 CAV1 857 HP:0007340 Lower limb muscle weakness OMIM:606721 CAV1 857 HP:0007409 Absence of subcutaneous fat over entire body except buttocks, hips, and thighs OMIM:606721 CAV1 857 HP:0002936 Distal sensory impairment OMIM:606721 CAV1 857 HP:0000519 Congenital cataract OMIM:606721 CAV1 857 HP:0000006 Autosomal dominant inheritance OMIM:606721 CAV1 857 HP:0003828 Variable expressivity OMIM:606721 CAV1 857 HP:0002169 Clonus OMIM:606721 CAV1 857 HP:0000855 Insulin resistance OMIM:606721 CAV1 857 HP:0009125 Lipodystrophy OMIM:606721 CAV1 857 HP:0003124 Hypercholesterolemia OMIM:606721 CAV1 857 HP:0002066 Gait ataxia OMIM:606721 CAV1 857 HP:0000639 Nystagmus OMIM:606721 CAV1 857 HP:0001278 Orthostatic hypotension OMIM:606721 CAV1 857 HP:0000580 Pigmentary retinopathy OMIM:606721 CAV1 857 HP:0001310 Dysmetria OMIM:602032 KRT85 3891 HP:0000561 Absent eyelashes OMIM:602032 KRT85 3891 HP:0002231 Sparse body hair OMIM:602032 KRT85 3891 HP:0008404 Nail dystrophy OMIM:602032 KRT85 3891 HP:0001596 Alopecia OMIM:602032 KRT85 3891 HP:0002223 Absent eyebrow OMIM:602032 KRT85 3891 HP:0007436 Hair-nail ectodermal dysplasia OMIM:602032 KRT85 3891 HP:0003777 Pili torti OMIM:602032 KRT85 3891 HP:0008394 Congenital onychodystrophy OMIM:602032 KRT85 3891 HP:0000006 Autosomal dominant inheritance OMIM:602032 KRT85 3891 HP:0004524 Temporal hypotrichosis OMIM:602032 KRT85 3891 HP:0000007 Autosomal recessive inheritance OMIM:602032 KRT85 3891 HP:0002299 Brittle hair OMIM:602032 KRT85 3891 HP:0001806 Onycholysis OMIM:100650 ALDH2 217 HP:0003533 Delayed oxidation of acetaldehyde OMIM:100650 ALDH2 217 HP:0001033 Facial flushing after alcohol intake OMIM:606966 NPHP4 261734 HP:0001903 Anemia OMIM:606966 NPHP4 261734 HP:0000108 Renal corticomedullary cysts OMIM:606966 NPHP4 261734 HP:0001959 Polydipsia OMIM:606966 NPHP4 261734 HP:0000090 Nephronophthisis OMIM:606966 NPHP4 261734 HP:0005576 Tubulointerstitial fibrosis OMIM:606966 NPHP4 261734 HP:0001510 Growth delay OMIM:606966 NPHP4 261734 HP:0000007 Autosomal recessive inheritance OMIM:606966 NPHP4 261734 HP:0000103 Polyuria OMIM:606966 NPHP4 261734 HP:0000092 Tubular atrophy OMIM:606966 NPHP4 261734 HP:0003774 Stage 5 chronic kidney disease OMIM:610187 ZFPM2 23414 HP:0000776 Congenital diaphragmatic hernia OMIM:610244 ZFYVE27 118813 HP:0001762 Talipes equinovarus OMIM:610244 ZFYVE27 118813 HP:0007340 Lower limb muscle weakness OMIM:610244 ZFYVE27 118813 HP:0003487 Babinski sign OMIM:610244 ZFYVE27 118813 HP:0011448 Ankle clonus OMIM:610244 ZFYVE27 118813 HP:0002064 Spastic gait OMIM:610244 ZFYVE27 118813 HP:0002061 Lower limb spasticity OMIM:610244 ZFYVE27 118813 HP:0001258 Spastic paraplegia OMIM:610244 ZFYVE27 118813 HP:0000006 Autosomal dominant inheritance OMIM:217800 CHST6 4166 HP:0007856 Punctate opacification of the cornea OMIM:217800 CHST6 4166 HP:0001131 Corneal dystrophy OMIM:217800 CHST6 4166 HP:0001939 Abnormality of metabolism/homeostasis OMIM:217800 CHST6 4166 HP:0000613 Photophobia OMIM:217800 CHST6 4166 HP:0000007 Autosomal recessive inheritance OMIM:217800 CHST6 4166 HP:0003621 Juvenile onset OMIM:217800 CHST6 4166 HP:0007754 Macular dystrophy OMIM:217800 CHST6 4166 HP:0000495 Recurrent corneal erosions OMIM:613291 SLC10A2 6555 HP:0001508 Failure to thrive OMIM:613291 SLC10A2 6555 HP:0002630 Fat malabsorption OMIM:613291 SLC10A2 6555 HP:0000007 Autosomal recessive inheritance OMIM:613291 SLC10A2 6555 HP:0003593 Infantile onset OMIM:613291 SLC10A2 6555 HP:0003828 Variable expressivity OMIM:613291 SLC10A2 6555 HP:0001510 Growth delay OMIM:613291 SLC10A2 6555 HP:0002028 Chronic diarrhea OMIM:613291 SLC10A2 6555 HP:0002570 Steatorrhea OMIM:180920 FGF10 2255 HP:0000670 Carious teeth OMIM:180920 FGF10 2255 HP:0000006 Autosomal dominant inheritance OMIM:180920 FGF10 2255 HP:0007656 Lacrimal gland aplasia OMIM:180920 FGF10 2255 HP:0000217 Xerostomia OMIM:180920 FGF10 2255 HP:0001092 Absent lacrimal punctum OMIM:180920 FGF10 2255 HP:0007732 Lacrimal gland hypoplasia ORPHANET:46532 HBG2 3048 HP:0000980 Pallor ORPHANET:46532 HBG2 3048 HP:0000924 Abnormality of the skeletal system ORPHANET:46532 HBG2 3048 HP:0002240 Hepatomegaly ORPHANET:46532 HBG2 3048 HP:0001903 Anemia ORPHANET:46532 HBG2 3048 HP:0001744 Splenomegaly ORPHANET:46532 HBG2 3048 HP:0010472 Abnormality of the heme biosynthetic pathway ORPHANET:46532 HBB 3043 HP:0000980 Pallor ORPHANET:46532 HBB 3043 HP:0000924 Abnormality of the skeletal system ORPHANET:46532 HBB 3043 HP:0002240 Hepatomegaly ORPHANET:46532 HBB 3043 HP:0001903 Anemia ORPHANET:46532 HBB 3043 HP:0001744 Splenomegaly ORPHANET:46532 HBB 3043 HP:0010472 Abnormality of the heme biosynthetic pathway ORPHANET:46532 KLF1 10661 HP:0000980 Pallor ORPHANET:46532 KLF1 10661 HP:0000924 Abnormality of the skeletal system ORPHANET:46532 KLF1 10661 HP:0002240 Hepatomegaly ORPHANET:46532 KLF1 10661 HP:0001903 Anemia ORPHANET:46532 KLF1 10661 HP:0001744 Splenomegaly ORPHANET:46532 KLF1 10661 HP:0010472 Abnormality of the heme biosynthetic pathway ORPHANET:46532 HBG1 3047 HP:0000980 Pallor ORPHANET:46532 HBG1 3047 HP:0000924 Abnormality of the skeletal system ORPHANET:46532 HBG1 3047 HP:0002240 Hepatomegaly ORPHANET:46532 HBG1 3047 HP:0001903 Anemia ORPHANET:46532 HBG1 3047 HP:0001744 Splenomegaly ORPHANET:46532 HBG1 3047 HP:0010472 Abnormality of the heme biosynthetic pathway ORPHANET:46532 BCL11A 53335 HP:0000980 Pallor ORPHANET:46532 BCL11A 53335 HP:0000924 Abnormality of the skeletal system ORPHANET:46532 BCL11A 53335 HP:0002240 Hepatomegaly ORPHANET:46532 BCL11A 53335 HP:0001903 Anemia ORPHANET:46532 BCL11A 53335 HP:0001744 Splenomegaly ORPHANET:46532 BCL11A 53335 HP:0010472 Abnormality of the heme biosynthetic pathway OMIM:241520 DMP1 1758 HP:0000007 Autosomal recessive inheritance OMIM:241520 DMP1 1758 HP:0000407 Sensorineural hearing impairment OMIM:241520 DMP1 1758 HP:0004912 Hypophosphatemic rickets OMIM:241520 DMP1 1758 HP:0002748 Rickets OMIM:241520 DMP1 1758 HP:0001363 Craniosynostosis OMIM:241520 DMP1 1758 HP:0002148 Hypophosphatemia OMIM:241520 DMP1 1758 HP:0011001 Increased bone mineral density OMIM:606243 ASPSCR1 79058 HP:0001428 Somatic mutation OMIM:606243 ASPSCR1 79058 HP:0012218 Alveolar soft part sarcoma OMIM:606217 CRELD1 78987 HP:0001651 Dextrocardia OMIM:606217 CRELD1 78987 HP:0002627 Right aortic arch with mirror image branching OMIM:606217 CRELD1 78987 HP:0000006 Autosomal dominant inheritance OMIM:606217 CRELD1 78987 HP:0003829 Incomplete penetrance OMIM:606217 CRELD1 78987 HP:0004935 Pulmonary artery atresia OMIM:606217 CRELD1 78987 HP:0005298 Atrioventricular canal defect with right ventricle aorta and pulmonary atresia OMIM:206100 SLC11A2 4891 HP:0001903 Anemia OMIM:206100 SLC11A2 4891 HP:0001392 Abnormality of the liver OMIM:206100 SLC11A2 4891 HP:0000007 Autosomal recessive inheritance OMIM:206100 SLC11A2 4891 HP:0001939 Abnormality of metabolism/homeostasis OMIM:613752 AHCY 191 HP:0001263 Global developmental delay OMIM:613752 AHCY 191 HP:0003235 Hypermethioninemia OMIM:613752 AHCY 191 HP:0001638 Cardiomyopathy OMIM:613752 AHCY 191 HP:0001270 Motor delay OMIM:613752 AHCY 191 HP:0001999 Abnormal facial shape OMIM:613752 AHCY 191 HP:0001249 Intellectual disability OMIM:613752 AHCY 191 HP:0000007 Autosomal recessive inheritance OMIM:613752 AHCY 191 HP:0001508 Failure to thrive OMIM:613752 AHCY 191 HP:0000164 Abnormality of the teeth OMIM:280000 PIGL 9487 HP:0000098 Tall stature OMIM:280000 PIGL 9487 HP:0001156 Brachydactyly syndrome OMIM:280000 PIGL 9487 HP:0011362 Abnormal hair quantity OMIM:280000 PIGL 9487 HP:0000717 Autism OMIM:280000 PIGL 9487 HP:0000179 Thick lower lip vermilion OMIM:280000 PIGL 9487 HP:0000431 Wide nasal bridge OMIM:280000 PIGL 9487 HP:0001636 Tetralogy of Fallot OMIM:280000 PIGL 9487 HP:0002213 Fine hair OMIM:280000 PIGL 9487 HP:0009776 Adactyly OMIM:280000 PIGL 9487 HP:0000077 Abnormality of the kidney OMIM:280000 PIGL 9487 HP:0000007 Autosomal recessive inheritance OMIM:280000 PIGL 9487 HP:0000081 Duplicated collecting system OMIM:280000 PIGL 9487 HP:0001833 Long foot OMIM:280000 PIGL 9487 HP:0005280 Depressed nasal bridge OMIM:280000 PIGL 9487 HP:0000322 Short philtrum OMIM:280000 PIGL 9487 HP:0008572 External ear malformation OMIM:280000 PIGL 9487 HP:0003272 Abnormality of the hip bone OMIM:280000 PIGL 9487 HP:0100760 Clubbing of toes OMIM:280000 PIGL 9487 HP:0001249 Intellectual disability OMIM:280000 PIGL 9487 HP:0009804 Reduced number of teeth OMIM:280000 PIGL 9487 HP:0002797 Osteolysis OMIM:280000 PIGL 9487 HP:0002562 Low-set nipples OMIM:280000 PIGL 9487 HP:0002557 Hypoplastic nipples OMIM:280000 PIGL 9487 HP:0000962 Hyperkeratosis OMIM:280000 PIGL 9487 HP:0001250 Seizures OMIM:280000 PIGL 9487 HP:0001252 Muscular hypotonia OMIM:280000 PIGL 9487 HP:0000248 Brachycephaly OMIM:280000 PIGL 9487 HP:0000074 Ureteropelvic junction obstruction OMIM:280000 PIGL 9487 HP:0000486 Strabismus OMIM:280000 PIGL 9487 HP:0006721 Acute lymphatic leukemia OMIM:280000 PIGL 9487 HP:0006709 Aplasia/Hypoplasia of the nipples OMIM:280000 PIGL 9487 HP:0008760 Violent behavior OMIM:280000 PIGL 9487 HP:0001629 Ventricular septal defect OMIM:280000 PIGL 9487 HP:0001669 Transposition of the great arteries OMIM:280000 PIGL 9487 HP:0002488 Acute leukemia OMIM:280000 PIGL 9487 HP:0002136 Broad-based gait OMIM:280000 PIGL 9487 HP:0008064 Ichthyosis OMIM:280000 PIGL 9487 HP:0011069 Increased number of teeth OMIM:280000 PIGL 9487 HP:0004969 Peripheral pulmonary artery stenosis OMIM:280000 PIGL 9487 HP:0000457 Depressed nasal ridge OMIM:280000 PIGL 9487 HP:0000480 Retinal coloboma OMIM:280000 PIGL 9487 HP:0002007 Frontal bossing OMIM:280000 PIGL 9487 HP:0000405 Conductive hearing impairment OMIM:280000 PIGL 9487 HP:0011220 Prominent forehead OMIM:280000 PIGL 9487 HP:0008070 Sparse hair OMIM:280000 PIGL 9487 HP:0000465 Webbed neck OMIM:280000 PIGL 9487 HP:0000508 Ptosis OMIM:280000 PIGL 9487 HP:0002120 Cerebral cortical atrophy OMIM:280000 PIGL 9487 HP:0000286 Epicanthus OMIM:280000 PIGL 9487 HP:0000175 Cleft palate OMIM:280000 PIGL 9487 HP:0000126 Hydronephrosis OMIM:280000 PIGL 9487 HP:0009473 Joint contracture of the hand OMIM:280000 PIGL 9487 HP:0000691 Microdontia OMIM:280000 PIGL 9487 HP:0004209 Clinodactyly of the 5th finger OMIM:280000 PIGL 9487 HP:0000154 Wide mouth OMIM:280000 PIGL 9487 HP:0100543 Cognitive impairment OMIM:280000 PIGL 9487 HP:0007477 Abnormal dermatoglyphics OMIM:280000 PIGL 9487 HP:0000365 Hearing impairment OMIM:280000 PIGL 9487 HP:0001176 Large hands OMIM:280000 PIGL 9487 HP:0200042 Skin ulcer OMIM:280000 PIGL 9487 HP:0001520 Large for gestational age OMIM:280000 PIGL 9487 HP:0002648 Abnormality of calvarial morphology OMIM:280000 PIGL 9487 HP:0000396 Overfolded helix OMIM:280000 PIGL 9487 HP:0000316 Hypertelorism OMIM:280000 PIGL 9487 HP:0002059 Cerebral atrophy OMIM:280000 PIGL 9487 HP:0000889 Abnormality of the clavicle OMIM:280000 PIGL 9487 HP:0000972 Palmoplantar hyperkeratosis OMIM:280000 PIGL 9487 HP:0001641 Abnormality of the pulmonary valve OMIM:280000 PIGL 9487 HP:0000567 Chorioretinal coloboma OMIM:280000 PIGL 9487 HP:0007759 Opacification of the corneal stroma OMIM:280000 PIGL 9487 HP:0000582 Upslanted palpebral fissure OMIM:280000 PIGL 9487 HP:0001831 Short toe OMIM:280000 PIGL 9487 HP:0000687 Widely spaced teeth OMIM:280000 PIGL 9487 HP:0005930 Abnormality of epiphysis morphology ORPHANET:2796 HPGD 3248 HP:0002754 Osteomyelitis ORPHANET:2796 HPGD 3248 HP:0010829 Impaired temperature sensation ORPHANET:2796 HPGD 3248 HP:0002650 Scoliosis ORPHANET:2796 HPGD 3248 HP:0001369 Arthritis ORPHANET:2796 HPGD 3248 HP:0002797 Osteolysis ORPHANET:2796 HPGD 3248 HP:0011362 Abnormal hair quantity ORPHANET:2796 HPGD 3248 HP:0000508 Ptosis ORPHANET:2796 HPGD 3248 HP:0002653 Bone pain ORPHANET:2796 HPGD 3248 HP:0000845 Growth hormone excess ORPHANET:2796 HPGD 3248 HP:0100021 Cerebral palsy ORPHANET:2796 HPGD 3248 HP:0001903 Anemia ORPHANET:2796 HPGD 3248 HP:0005930 Abnormality of epiphysis morphology ORPHANET:2796 HPGD 3248 HP:0004295 Abnormality of the gastric mucosa ORPHANET:2796 HPGD 3248 HP:0002240 Hepatomegaly ORPHANET:2796 HPGD 3248 HP:0001231 Abnormality of the fingernails ORPHANET:2796 HPGD 3248 HP:0004279 Short palm ORPHANET:2796 HPGD 3248 HP:0001744 Splenomegaly ORPHANET:2796 HPGD 3248 HP:0001061 Acne ORPHANET:2796 HPGD 3248 HP:0000982 Palmoplantar keratoderma ORPHANET:2796 HPGD 3248 HP:0000771 Gynecomastia ORPHANET:2796 HPGD 3248 HP:0000975 Hyperhidrosis ORPHANET:2796 HPGD 3248 HP:0002024 Malabsorption ORPHANET:2796 HPGD 3248 HP:0000280 Coarse facial features ORPHANET:2796 HPGD 3248 HP:0002970 Genu varum ORPHANET:2796 HPGD 3248 HP:0002239 Gastrointestinal hemorrhage ORPHANET:2796 HPGD 3248 HP:0004349 Reduced bone mineral density ORPHANET:2796 HPGD 3248 HP:0002829 Arthralgia ORPHANET:2796 HPGD 3248 HP:0100526 Neoplasm of the lung ORPHANET:2796 HPGD 3248 HP:0008069 Neoplasm of the skin ORPHANET:2796 HPGD 3248 HP:0001386 Joint swelling ORPHANET:2796 HPGD 3248 HP:0001051 Seborrheic dermatitis ORPHANET:2796 HPGD 3248 HP:0003103 Abnormal cortical bone morphology ORPHANET:2796 HPGD 3248 HP:0001965 Abnormality of the scalp ORPHANET:2796 HPGD 3248 HP:0001376 Limitation of joint mobility ORPHANET:2796 HPGD 3248 HP:0100760 Clubbing of toes ORPHANET:2796 HPGD 3248 HP:0010885 Aseptic necrosis ORPHANET:2796 SLCO2A1 6578 HP:0002754 Osteomyelitis ORPHANET:2796 SLCO2A1 6578 HP:0010829 Impaired temperature sensation ORPHANET:2796 SLCO2A1 6578 HP:0002650 Scoliosis ORPHANET:2796 SLCO2A1 6578 HP:0001369 Arthritis ORPHANET:2796 SLCO2A1 6578 HP:0002797 Osteolysis ORPHANET:2796 SLCO2A1 6578 HP:0011362 Abnormal hair quantity ORPHANET:2796 SLCO2A1 6578 HP:0000508 Ptosis ORPHANET:2796 SLCO2A1 6578 HP:0002653 Bone pain ORPHANET:2796 SLCO2A1 6578 HP:0000845 Growth hormone excess ORPHANET:2796 SLCO2A1 6578 HP:0100021 Cerebral palsy ORPHANET:2796 SLCO2A1 6578 HP:0001903 Anemia ORPHANET:2796 SLCO2A1 6578 HP:0005930 Abnormality of epiphysis morphology ORPHANET:2796 SLCO2A1 6578 HP:0004295 Abnormality of the gastric mucosa ORPHANET:2796 SLCO2A1 6578 HP:0002240 Hepatomegaly ORPHANET:2796 SLCO2A1 6578 HP:0001231 Abnormality of the fingernails ORPHANET:2796 SLCO2A1 6578 HP:0004279 Short palm ORPHANET:2796 SLCO2A1 6578 HP:0001744 Splenomegaly ORPHANET:2796 SLCO2A1 6578 HP:0001061 Acne ORPHANET:2796 SLCO2A1 6578 HP:0000982 Palmoplantar keratoderma ORPHANET:2796 SLCO2A1 6578 HP:0000771 Gynecomastia ORPHANET:2796 SLCO2A1 6578 HP:0000975 Hyperhidrosis ORPHANET:2796 SLCO2A1 6578 HP:0002024 Malabsorption ORPHANET:2796 SLCO2A1 6578 HP:0000280 Coarse facial features ORPHANET:2796 SLCO2A1 6578 HP:0002970 Genu varum ORPHANET:2796 SLCO2A1 6578 HP:0002239 Gastrointestinal hemorrhage ORPHANET:2796 SLCO2A1 6578 HP:0004349 Reduced bone mineral density ORPHANET:2796 SLCO2A1 6578 HP:0002829 Arthralgia ORPHANET:2796 SLCO2A1 6578 HP:0100526 Neoplasm of the lung ORPHANET:2796 SLCO2A1 6578 HP:0008069 Neoplasm of the skin ORPHANET:2796 SLCO2A1 6578 HP:0001386 Joint swelling ORPHANET:2796 SLCO2A1 6578 HP:0001051 Seborrheic dermatitis ORPHANET:2796 SLCO2A1 6578 HP:0003103 Abnormal cortical bone morphology ORPHANET:2796 SLCO2A1 6578 HP:0001965 Abnormality of the scalp ORPHANET:2796 SLCO2A1 6578 HP:0001376 Limitation of joint mobility ORPHANET:2796 SLCO2A1 6578 HP:0100760 Clubbing of toes ORPHANET:2796 SLCO2A1 6578 HP:0010885 Aseptic necrosis OMIM:604928 CISD2 493856 HP:0002592 Gastric ulcer OMIM:604928 CISD2 493856 HP:0001138 Optic neuropathy OMIM:604928 CISD2 493856 HP:0000007 Autosomal recessive inheritance OMIM:604928 CISD2 493856 HP:0001892 Abnormal bleeding OMIM:604928 CISD2 493856 HP:0000819 Diabetes mellitus OMIM:604928 CISD2 493856 HP:0000648 Optic atrophy OMIM:604928 CISD2 493856 HP:0008320 Impaired collagen-induced platelet aggregation OMIM:604928 CISD2 493856 HP:0000407 Sensorineural hearing impairment OMIM:108985 TEAD1 7003 HP:0007950 Peripapillary chorioretinal atrophy OMIM:108985 TEAD1 7003 HP:0000483 Astigmatism OMIM:108985 TEAD1 7003 HP:0003677 Slow progression OMIM:108985 TEAD1 7003 HP:0000006 Autosomal dominant inheritance OMIM:108985 TEAD1 7003 HP:0000545 Myopia OMIM:612877 DSG2 1829 HP:0001644 Dilated cardiomyopathy OMIM:615397 TMEM231 79583 HP:0002085 Occipital encephalocele OMIM:615397 TMEM231 79583 HP:0000113 Polycystic kidney dysplasia OMIM:615397 TMEM231 79583 HP:0001562 Oligohydramnios OMIM:615397 TMEM231 79583 HP:0000007 Autosomal recessive inheritance OMIM:615397 TMEM231 79583 HP:0010442 Polydactyly OMIM:607602 KRT1 3848 HP:0000972 Palmoplantar hyperkeratosis OMIM:607602 KRT1 3848 HP:0000006 Autosomal dominant inheritance OMIM:607602 KRT1 3848 HP:0010783 Erythema OMIM:607602 KRT1 3848 HP:0007475 Congenital bullous ichthyosiform erythroderma OMIM:607602 KRT10 3858 HP:0000972 Palmoplantar hyperkeratosis OMIM:607602 KRT10 3858 HP:0000006 Autosomal dominant inheritance OMIM:607602 KRT10 3858 HP:0010783 Erythema OMIM:607602 KRT10 3858 HP:0007475 Congenital bullous ichthyosiform erythroderma OMIM:263800 SLC12A3 6559 HP:0003621 Juvenile onset OMIM:263800 SLC12A3 6559 HP:0003470 Paralysis OMIM:263800 SLC12A3 6559 HP:0002917 Hypomagnesemia OMIM:263800 SLC12A3 6559 HP:0000103 Polyuria OMIM:263800 SLC12A3 6559 HP:0002027 Abdominal pain OMIM:263800 SLC12A3 6559 HP:0005567 Renal magnesium wasting OMIM:263800 SLC12A3 6559 HP:0001949 Hypokalemic alkalosis OMIM:263800 SLC12A3 6559 HP:0001281 Tetany OMIM:263800 SLC12A3 6559 HP:0003127 Hypocalciuria OMIM:263800 SLC12A3 6559 HP:0000128 Renal potassium wasting OMIM:263800 SLC12A3 6559 HP:0002900 Hypokalemia OMIM:263800 SLC12A3 6559 HP:0003394 Muscle cramps OMIM:263800 SLC12A3 6559 HP:0000934 Chondrocalcinosis OMIM:263800 SLC12A3 6559 HP:0000007 Autosomal recessive inheritance OMIM:263800 SLC12A3 6559 HP:0003324 Generalized muscle weakness OMIM:263800 SLC12A3 6559 HP:0001959 Polydipsia OMIM:263800 SLC12A3 6559 HP:0000848 Increased circulating renin level OMIM:263800 SLC12A3 6559 HP:0003401 Paresthesia OMIM:263800 SLC12A3 6559 HP:0001250 Seizures OMIM:615030 CYP2U1 113612 HP:0001270 Motor delay OMIM:615030 CYP2U1 113612 HP:0002395 Lower limb hyperreflexia OMIM:615030 CYP2U1 113612 HP:0002317 Unsteady gait OMIM:615030 CYP2U1 113612 HP:0000007 Autosomal recessive inheritance OMIM:615030 CYP2U1 113612 HP:0002135 Basal ganglia calcification OMIM:615030 CYP2U1 113612 HP:0001258 Spastic paraplegia OMIM:615030 CYP2U1 113612 HP:0040083 Toe walking OMIM:615030 CYP2U1 113612 HP:0003828 Variable expressivity OMIM:615030 CYP2U1 113612 HP:0003487 Babinski sign OMIM:615030 CYP2U1 113612 HP:0100543 Cognitive impairment OMIM:615030 CYP2U1 113612 HP:0002079 Hypoplasia of the corpus callosum ORPHANET:635 MYCN 4613 HP:0004375 Neoplasm of the nervous system ORPHANET:635 ALK 238 HP:0004375 Neoplasm of the nervous system ORPHANET:635 LIN28B 389421 HP:0004375 Neoplasm of the nervous system ORPHANET:635 TOP2A 7153 HP:0004375 Neoplasm of the nervous system ORPHANET:635 PHOX2B 8929 HP:0004375 Neoplasm of the nervous system ORPHANET:635 HACE1 57531 HP:0004375 Neoplasm of the nervous system OMIM:614882 PEX3 8504 HP:0000007 Autosomal recessive inheritance OMIM:614882 PEX3 8504 HP:0008935 Generalized neonatal hypotonia OMIM:614882 PEX3 8504 HP:0001522 Death in infancy OMIM:614882 PEX3 8504 HP:0011968 Feeding difficulties OMIM:614882 PEX3 8504 HP:0000348 High forehead OMIM:614882 PEX3 8504 HP:0000337 Broad forehead OMIM:614882 PEX3 8504 HP:0011344 Severe global developmental delay OMIM:614882 PEX3 8504 HP:0010655 Epiphyseal stippling OMIM:614882 PEX3 8504 HP:0001250 Seizures OMIM:614882 PEX3 8504 HP:0000316 Hypertelorism OMIM:614882 PEX3 8504 HP:0007930 Prominent epicanthal folds OMIM:614882 PEX3 8504 HP:0002240 Hepatomegaly OMIM:136900 TIMP3 7078 HP:0000006 Autosomal dominant inheritance OMIM:136900 TIMP3 7078 HP:0007754 Macular dystrophy OMIM:615426 HNRNPA1 3178 HP:0003805 Rimmed vacuoles OMIM:615426 HNRNPA1 3178 HP:0003560 Muscular dystrophy OMIM:615426 HNRNPA1 3178 HP:0003155 Elevated alkaline phosphatase OMIM:615426 HNRNPA1 3178 HP:0100299 Muscle fiber inclusion bodies OMIM:615426 HNRNPA1 3178 HP:0000006 Autosomal dominant inheritance OMIM:300624 FMR1 2332 HP:0005111 Dilatation of the ascending aorta OMIM:300624 FMR1 2332 HP:0000246 Sinusitis OMIM:300624 FMR1 2332 HP:0100716 Self-injurious behavior OMIM:300624 FMR1 2332 HP:0000817 Poor eye contact OMIM:300624 FMR1 2332 HP:0001423 X-linked dominant inheritance OMIM:300624 FMR1 2332 HP:0000053 Macroorchidism OMIM:300624 FMR1 2332 HP:0000717 Autism OMIM:300624 FMR1 2332 HP:0000400 Macrotia OMIM:300624 FMR1 2332 HP:0002457 Abnormal head movements OMIM:300624 FMR1 2332 HP:0003564 Folate-dependent fragile site at Xq28 OMIM:300624 FMR1 2332 HP:0002050 Macroorchidism, postpubertal OMIM:300624 FMR1 2332 HP:0002003 Large forehead OMIM:300624 FMR1 2332 HP:0000276 Long face OMIM:300624 FMR1 2332 HP:0001388 Joint laxity OMIM:300624 FMR1 2332 HP:0000388 Otitis media OMIM:300624 FMR1 2332 HP:0001250 Seizures OMIM:300624 FMR1 2332 HP:0008640 Congenital macroorchidism OMIM:300624 FMR1 2332 HP:0002167 Neurological speech impairment OMIM:300624 FMR1 2332 HP:0001634 Mitral valve prolapse OMIM:300624 FMR1 2332 HP:0000303 Mandibular prognathia OMIM:300624 FMR1 2332 HP:0002120 Cerebral cortical atrophy OMIM:300624 FMR1 2332 HP:0002007 Frontal bossing OMIM:300624 FMR1 2332 HP:0007165 Periventricular gray matter heterotopia OMIM:300624 FMR1 2332 HP:0000486 Strabismus OMIM:300624 FMR1 2332 HP:0002650 Scoliosis OMIM:300624 FMR1 2332 HP:0000275 Narrow face OMIM:300624 FMR1 2332 HP:0007018 Attention deficit hyperactivity disorder OMIM:300624 FMR1 2332 HP:0003829 Incomplete penetrance OMIM:300624 FMR1 2332 HP:0001633 Abnormality of the mitral valve OMIM:300624 FMR1 2332 HP:0000377 Abnormality of the pinna OMIM:300624 FMR1 2332 HP:0002342 Intellectual disability, moderate OMIM:300624 FMR1 2332 HP:0000256 Macrocephaly OMIM:300624 FMR1 2332 HP:0001382 Joint hypermobility OMIM:300624 FMR1 2332 HP:0001763 Pes planus OMIM:300624 FMR1 2332 HP:0100543 Cognitive impairment OMIM:300624 FMR1 2332 HP:0000280 Coarse facial features OMIM:300624 FMR1 2332 HP:0000767 Pectus excavatum OMIM:300624 FMR1 2332 HP:0000752 Hyperactivity OMIM:300624 FMR1 2332 HP:0001252 Muscular hypotonia OMIM:613494 TNFRSF13C 115650 HP:0004315 IgG deficiency OMIM:613494 TNFRSF13C 115650 HP:0002721 Immunodeficiency OMIM:613494 TNFRSF13C 115650 HP:0003581 Adult onset OMIM:613494 TNFRSF13C 115650 HP:0000007 Autosomal recessive inheritance OMIM:613494 TNFRSF13C 115650 HP:0011108 Recurrent sinusitis OMIM:613494 TNFRSF13C 115650 HP:0003812 Phenotypic variability OMIM:613494 TNFRSF13C 115650 HP:0002718 Recurrent bacterial infections OMIM:613494 TNFRSF13C 115650 HP:0006532 Recurrent pneumonia OMIM:612438 TUBB4A 10382 HP:0002465 Poor speech OMIM:612438 TUBB4A 10382 HP:0000639 Nystagmus OMIM:612438 TUBB4A 10382 HP:0002063 Rigidity OMIM:612438 TUBB4A 10382 HP:0001250 Seizures OMIM:612438 TUBB4A 10382 HP:0000006 Autosomal dominant inheritance OMIM:612438 TUBB4A 10382 HP:0000007 Autosomal recessive inheritance OMIM:612438 TUBB4A 10382 HP:0002415 Leukodystrophy OMIM:612438 TUBB4A 10382 HP:0004322 Short stature OMIM:612438 TUBB4A 10382 HP:0008936 Muscular hypotonia of the trunk OMIM:612438 TUBB4A 10382 HP:0001257 Spasticity OMIM:612438 TUBB4A 10382 HP:0000648 Optic atrophy OMIM:612438 TUBB4A 10382 HP:0003745 Sporadic OMIM:612438 TUBB4A 10382 HP:0000365 Hearing impairment OMIM:612438 TUBB4A 10382 HP:0001260 Dysarthria OMIM:612438 TUBB4A 10382 HP:0001251 Ataxia OMIM:612438 TUBB4A 10382 HP:0001249 Intellectual disability OMIM:612438 TUBB4A 10382 HP:0001337 Tremor OMIM:612438 TUBB4A 10382 HP:0001272 Cerebellar atrophy OMIM:612438 TUBB4A 10382 HP:0006808 Cerebral hypomyelination OMIM:612438 TUBB4A 10382 HP:0003676 Progressive disorder OMIM:612438 TUBB4A 10382 HP:0003828 Variable expressivity OMIM:612438 TUBB4A 10382 HP:0000505 Visual impairment OMIM:612438 TUBB4A 10382 HP:0001328 Specific learning disability OMIM:612438 TUBB4A 10382 HP:0001332 Dystonia OMIM:612438 TUBB4A 10382 HP:0000750 Delayed speech and language development OMIM:612438 TUBB4A 10382 HP:0001270 Motor delay OMIM:612438 TUBB4A 10382 HP:0000252 Microcephaly OMIM:612438 TUBB4A 10382 HP:0001266 Choreoathetosis ORPHANET:2785 CA2 760 HP:0002757 Recurrent fractures ORPHANET:2785 CA2 760 HP:0001873 Thrombocytopenia ORPHANET:2785 CA2 760 HP:0002514 Cerebral calcification ORPHANET:2785 CA2 760 HP:0002653 Bone pain ORPHANET:2785 CA2 760 HP:0006482 Abnormality of dental morphology ORPHANET:2785 CA2 760 HP:0004349 Reduced bone mineral density ORPHANET:2785 CA2 760 HP:0000648 Optic atrophy ORPHANET:2785 CA2 760 HP:0001903 Anemia ORPHANET:2785 CA2 760 HP:0001744 Splenomegaly ORPHANET:2785 CA2 760 HP:0011001 Increased bone mineral density ORPHANET:2785 CA2 760 HP:0100543 Cognitive impairment ORPHANET:2785 CA2 760 HP:0002240 Hepatomegaly ORPHANET:2785 CA2 760 HP:0000303 Mandibular prognathia ORPHANET:2785 CA2 760 HP:0002857 Genu valgum ORPHANET:2785 CA2 760 HP:0005930 Abnormality of epiphysis morphology ORPHANET:2785 CA2 760 HP:0000670 Carious teeth ORPHANET:2785 CA2 760 HP:0000091 Abnormality of the renal tubule ORPHANET:2785 CA2 760 HP:0000505 Visual impairment ORPHANET:2785 CA2 760 HP:0010885 Aseptic necrosis ORPHANET:2785 CA2 760 HP:0009830 Peripheral neuropathy OMIM:300486 OPHN1 4983 HP:0007018 Attention deficit hyperactivity disorder OMIM:300486 OPHN1 4983 HP:0002007 Frontal bossing OMIM:300486 OPHN1 4983 HP:0011220 Prominent forehead OMIM:300486 OPHN1 4983 HP:0000400 Macrotia OMIM:300486 OPHN1 4983 HP:0100543 Cognitive impairment OMIM:300486 OPHN1 4983 HP:0001263 Global developmental delay OMIM:300486 OPHN1 4983 HP:0000303 Mandibular prognathia OMIM:300486 OPHN1 4983 HP:0000490 Deeply set eye OMIM:300486 OPHN1 4983 HP:0002311 Incoordination OMIM:300486 OPHN1 4983 HP:0002167 Neurological speech impairment OMIM:300486 OPHN1 4983 HP:0000276 Long face OMIM:300486 OPHN1 4983 HP:0000336 Prominent supraorbital ridges OMIM:300486 OPHN1 4983 HP:0001257 Spasticity OMIM:300486 OPHN1 4983 HP:0007065 Disorganization of the anterior cerebellar vermis OMIM:300486 OPHN1 4983 HP:0000601 Hypotelorism OMIM:300486 OPHN1 4983 HP:0000219 Thin upper lip vermilion OMIM:300486 OPHN1 4983 HP:0003189 Long nose OMIM:300486 OPHN1 4983 HP:0000054 Micropenis OMIM:300486 OPHN1 4983 HP:0002120 Cerebral cortical atrophy OMIM:300486 OPHN1 4983 HP:0001419 X-linked recessive inheritance OMIM:300486 OPHN1 4983 HP:0001249 Intellectual disability OMIM:300486 OPHN1 4983 HP:0000028 Cryptorchidism OMIM:300486 OPHN1 4983 HP:0000486 Strabismus OMIM:300486 OPHN1 4983 HP:0001250 Seizures OMIM:300486 OPHN1 4983 HP:0000752 Hyperactivity OMIM:300486 OPHN1 4983 HP:0000717 Autism OMIM:300486 OPHN1 4983 HP:0000046 Scrotal hypoplasia OMIM:300486 OPHN1 4983 HP:0006951 Retrocerebellar cyst OMIM:300486 OPHN1 4983 HP:0002119 Ventriculomegaly OMIM:300486 OPHN1 4983 HP:0001321 Cerebellar hypoplasia OMIM:300486 OPHN1 4983 HP:0000322 Short philtrum OMIM:300486 OPHN1 4983 HP:0001252 Muscular hypotonia OMIM:300486 OPHN1 4983 HP:0000750 Delayed speech and language development OMIM:300486 OPHN1 4983 HP:0000153 Abnormality of the mouth OMIM:300486 OPHN1 4983 HP:0000256 Macrocephaly OMIM:300486 OPHN1 4983 HP:0000639 Nystagmus OMIM:300486 OPHN1 4983 HP:0002066 Gait ataxia OMIM:300486 OPHN1 4983 HP:0002280 Enlarged cisterna magna OMIM:300486 OPHN1 4983 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:300486 OPHN1 4983 HP:0030260 Microphallus OMIM:300486 OPHN1 4983 HP:0003593 Infantile onset OMIM:600138 PRPF31 26121 HP:0000006 Autosomal dominant inheritance OMIM:600138 PRPF31 26121 HP:0040049 Macular edema OMIM:600138 PRPF31 26121 HP:0000608 Macular degeneration OMIM:600138 PRPF31 26121 HP:0000510 Retinitis pigmentosa OMIM:600138 PRPF31 26121 HP:0003829 Incomplete penetrance OMIM:300770 CSF2RA 1438 HP:0002091 Restrictive lung disease OMIM:300770 CSF2RA 1438 HP:0006517 Alveolar proteinosis OMIM:300770 CSF2RA 1438 HP:0001417 X-linked inheritance OMIM:300770 CSF2RA 1438 HP:0002789 Tachypnea OMIM:600996 RYR2 6262 HP:0011663 Right ventricular cardiomyopathy OMIM:600996 RYR2 6262 HP:0006698 Ventricular aneurysm OMIM:600996 RYR2 6262 HP:0004308 Ventricular arrhythmia OMIM:600996 RYR2 6262 HP:0004758 Effort-induced polymorphic ventricular tachycardias OMIM:600996 RYR2 6262 HP:0001699 Sudden death OMIM:270960 SYCP3 50511 HP:0001939 Abnormality of metabolism/homeostasis OMIM:270960 SYCP3 50511 HP:0000027 Azoospermia OMIM:270960 SYCP3 50511 HP:0200067 Recurrent spontaneous abortion OMIM:270960 SYCP3 50511 HP:0000006 Autosomal dominant inheritance OMIM:270960 SYCP3 50511 HP:0000007 Autosomal recessive inheritance OMIM:614751 REEP1 65055 HP:0001265 Hyporeflexia OMIM:614751 REEP1 65055 HP:0000006 Autosomal dominant inheritance OMIM:614751 REEP1 65055 HP:0003693 Distal amyotrophy OMIM:614751 REEP1 65055 HP:0002460 Distal muscle weakness OMIM:614751 REEP1 65055 HP:0001284 Areflexia OMIM:614751 REEP1 65055 HP:0001761 Pes cavus ORPHANET:93947 PQBP1 10084 HP:0000286 Epicanthus ORPHANET:93947 PQBP1 10084 HP:0001276 Hypertonia ORPHANET:93947 PQBP1 10084 HP:0008572 External ear malformation ORPHANET:93947 PQBP1 10084 HP:0000325 Triangular face ORPHANET:93947 PQBP1 10084 HP:0004322 Short stature ORPHANET:93947 PQBP1 10084 HP:0000276 Long face ORPHANET:93947 PQBP1 10084 HP:0001631 Defect in the atrial septum ORPHANET:93947 PQBP1 10084 HP:0000582 Upslanted palpebral fissure ORPHANET:93947 PQBP1 10084 HP:0000252 Microcephaly ORPHANET:93947 PQBP1 10084 HP:0004374 Hemiplegia/hemiparesis ORPHANET:93947 PQBP1 10084 HP:0100543 Cognitive impairment ORPHANET:93947 PQBP1 10084 HP:0010719 Abnormality of hair texture ORPHANET:93947 PQBP1 10084 HP:0000275 Narrow face ORPHANET:93947 PQBP1 10084 HP:0001250 Seizures OMIM:615849 GLI2 2736 HP:0000054 Micropenis OMIM:615849 GLI2 2736 HP:0010627 Anterior pituitary hypoplasia OMIM:615849 GLI2 2736 HP:0000175 Cleft palate OMIM:615849 GLI2 2736 HP:0040075 Hypopituitarism OMIM:615849 GLI2 2736 HP:0000204 Cleft upper lip OMIM:615849 GLI2 2736 HP:0000601 Hypotelorism OMIM:615849 GLI2 2736 HP:0001263 Global developmental delay OMIM:615849 GLI2 2736 HP:0011755 Ectopic posterior pituitary OMIM:615849 GLI2 2736 HP:0100259 Postaxial polydactyly OMIM:615849 GLI2 2736 HP:0000028 Cryptorchidism OMIM:615849 GLI2 2736 HP:0004322 Short stature OMIM:615849 GLI2 2736 HP:0000873 Diabetes insipidus OMIM:615849 GLI2 2736 HP:0011800 Midface retrusion OMIM:610069 BMPR1A 657 HP:0005227 Adenomatous colonic polyposis OMIM:610069 BMPR1A 657 HP:0012198 Juvenile colonic polyposis OMIM:610069 BMPR1A 657 HP:0012183 Hyperplastic colonic polyposis OMIM:610069 BMPR1A 657 HP:0000006 Autosomal dominant inheritance OMIM:610069 BMPR1A 657 HP:0003003 Colon cancer OMIM:269920 SLC17A5 26503 HP:0000286 Epicanthus OMIM:269920 SLC17A5 26503 HP:0002908 Conjugated hyperbilirubinemia OMIM:269920 SLC17A5 26503 HP:0000238 Hydrocephalus OMIM:269920 SLC17A5 26503 HP:0002680 J-shaped sella turcica OMIM:269920 SLC17A5 26503 HP:0001744 Splenomegaly OMIM:269920 SLC17A5 26503 HP:0000212 Gingival overgrowth OMIM:269920 SLC17A5 26503 HP:0000007 Autosomal recessive inheritance OMIM:269920 SLC17A5 26503 HP:0001250 Seizures OMIM:269920 SLC17A5 26503 HP:0001789 Hydrops fetalis OMIM:269920 SLC17A5 26503 HP:0002286 Fair hair OMIM:269920 SLC17A5 26503 HP:0000938 Osteopenia OMIM:269920 SLC17A5 26503 HP:0000463 Anteverted nares OMIM:269920 SLC17A5 26503 HP:0001263 Global developmental delay OMIM:269920 SLC17A5 26503 HP:0001252 Muscular hypotonia OMIM:269920 SLC17A5 26503 HP:0000508 Ptosis OMIM:269920 SLC17A5 26503 HP:0000100 Nephrotic syndrome OMIM:269920 SLC17A5 26503 HP:0003025 Metaphyseal irregularity OMIM:269920 SLC17A5 26503 HP:0003819 Death in childhood OMIM:269920 SLC17A5 26503 HP:0000280 Coarse facial features OMIM:269920 SLC17A5 26503 HP:0000639 Nystagmus OMIM:269920 SLC17A5 26503 HP:0001622 Premature birth OMIM:269920 SLC17A5 26503 HP:0001760 Abnormality of the foot OMIM:269920 SLC17A5 26503 HP:0001541 Ascites OMIM:269920 SLC17A5 26503 HP:0002240 Hepatomegaly OMIM:269920 SLC17A5 26503 HP:0001640 Cardiomegaly OMIM:269920 SLC17A5 26503 HP:0002059 Cerebral atrophy OMIM:269920 SLC17A5 26503 HP:0001508 Failure to thrive OMIM:269920 SLC17A5 26503 HP:0001010 Hypopigmentation of the skin OMIM:269920 SLC17A5 26503 HP:0000765 Abnormality of the thorax OMIM:269920 SLC17A5 26503 HP:0000218 High palate OMIM:269920 SLC17A5 26503 HP:0001635 Congestive heart failure OMIM:269920 SLC17A5 26503 HP:0001922 Vacuolated lymphocytes OMIM:612219 EWSR1 2130 HP:0001428 Somatic mutation OMIM:612219 EWSR1 2130 HP:0012254 Ewing's sarcoma ORPHANET:2073 TNFSF4 7292 HP:0000738 Hallucinations ORPHANET:2073 TNFSF4 7292 HP:0004372 Reduced consciousness/confusion ORPHANET:2073 TNFSF4 7292 HP:0001324 Muscle weakness ORPHANET:2073 TNFSF4 7292 HP:0002360 Sleep disturbance ORPHANET:2073 TNFSF4 7292 HP:0000496 Abnormality of eye movement ORPHANET:2073 TNFSF4 7292 HP:0002167 Neurological speech impairment ORPHANET:2073 TNFSF4 7292 HP:0002354 Memory impairment ORPHANET:2073 TNFSF4 7292 HP:0001645 Sudden cardiac death ORPHANET:2073 TNFSF4 7292 HP:0001513 Obesity ORPHANET:2073 P2RY11 5032 HP:0000738 Hallucinations ORPHANET:2073 P2RY11 5032 HP:0004372 Reduced consciousness/confusion ORPHANET:2073 P2RY11 5032 HP:0001324 Muscle weakness ORPHANET:2073 P2RY11 5032 HP:0002360 Sleep disturbance ORPHANET:2073 P2RY11 5032 HP:0000496 Abnormality of eye movement ORPHANET:2073 P2RY11 5032 HP:0002167 Neurological speech impairment ORPHANET:2073 P2RY11 5032 HP:0002354 Memory impairment ORPHANET:2073 P2RY11 5032 HP:0001645 Sudden cardiac death ORPHANET:2073 P2RY11 5032 HP:0001513 Obesity ORPHANET:2073 HLA-DQB1 3119 HP:0000738 Hallucinations ORPHANET:2073 HLA-DQB1 3119 HP:0004372 Reduced consciousness/confusion ORPHANET:2073 HLA-DQB1 3119 HP:0001324 Muscle weakness ORPHANET:2073 HLA-DQB1 3119 HP:0002360 Sleep disturbance ORPHANET:2073 HLA-DQB1 3119 HP:0000496 Abnormality of eye movement ORPHANET:2073 HLA-DQB1 3119 HP:0002167 Neurological speech impairment ORPHANET:2073 HLA-DQB1 3119 HP:0002354 Memory impairment ORPHANET:2073 HLA-DQB1 3119 HP:0001645 Sudden cardiac death ORPHANET:2073 HLA-DQB1 3119 HP:0001513 Obesity ORPHANET:2073 HLA-DRB1 3123 HP:0000738 Hallucinations ORPHANET:2073 HLA-DRB1 3123 HP:0004372 Reduced consciousness/confusion ORPHANET:2073 HLA-DRB1 3123 HP:0001324 Muscle weakness ORPHANET:2073 HLA-DRB1 3123 HP:0002360 Sleep disturbance ORPHANET:2073 HLA-DRB1 3123 HP:0000496 Abnormality of eye movement ORPHANET:2073 HLA-DRB1 3123 HP:0002167 Neurological speech impairment ORPHANET:2073 HLA-DRB1 3123 HP:0002354 Memory impairment ORPHANET:2073 HLA-DRB1 3123 HP:0001645 Sudden cardiac death ORPHANET:2073 HLA-DRB1 3123 HP:0001513 Obesity ORPHANET:2073 ZNF365 22891 HP:0000738 Hallucinations ORPHANET:2073 ZNF365 22891 HP:0004372 Reduced consciousness/confusion ORPHANET:2073 ZNF365 22891 HP:0001324 Muscle weakness ORPHANET:2073 ZNF365 22891 HP:0002360 Sleep disturbance ORPHANET:2073 ZNF365 22891 HP:0000496 Abnormality of eye movement ORPHANET:2073 ZNF365 22891 HP:0002167 Neurological speech impairment ORPHANET:2073 ZNF365 22891 HP:0002354 Memory impairment ORPHANET:2073 ZNF365 22891 HP:0001645 Sudden cardiac death ORPHANET:2073 ZNF365 22891 HP:0001513 Obesity ORPHANET:2073 MOG 4340 HP:0000738 Hallucinations ORPHANET:2073 MOG 4340 HP:0004372 Reduced consciousness/confusion ORPHANET:2073 MOG 4340 HP:0001324 Muscle weakness ORPHANET:2073 MOG 4340 HP:0002360 Sleep disturbance ORPHANET:2073 MOG 4340 HP:0000496 Abnormality of eye movement ORPHANET:2073 MOG 4340 HP:0002167 Neurological speech impairment ORPHANET:2073 MOG 4340 HP:0002354 Memory impairment ORPHANET:2073 MOG 4340 HP:0001645 Sudden cardiac death ORPHANET:2073 MOG 4340 HP:0001513 Obesity ORPHANET:2073 HCRT 3060 HP:0000738 Hallucinations ORPHANET:2073 HCRT 3060 HP:0004372 Reduced consciousness/confusion ORPHANET:2073 HCRT 3060 HP:0001324 Muscle weakness ORPHANET:2073 HCRT 3060 HP:0002360 Sleep disturbance ORPHANET:2073 HCRT 3060 HP:0000496 Abnormality of eye movement ORPHANET:2073 HCRT 3060 HP:0002167 Neurological speech impairment ORPHANET:2073 HCRT 3060 HP:0002354 Memory impairment ORPHANET:2073 HCRT 3060 HP:0001645 Sudden cardiac death ORPHANET:2073 HCRT 3060 HP:0001513 Obesity ORPHANET:2073 CTSH 1512 HP:0000738 Hallucinations ORPHANET:2073 CTSH 1512 HP:0004372 Reduced consciousness/confusion ORPHANET:2073 CTSH 1512 HP:0001324 Muscle weakness ORPHANET:2073 CTSH 1512 HP:0002360 Sleep disturbance ORPHANET:2073 CTSH 1512 HP:0000496 Abnormality of eye movement ORPHANET:2073 CTSH 1512 HP:0002167 Neurological speech impairment ORPHANET:2073 CTSH 1512 HP:0002354 Memory impairment ORPHANET:2073 CTSH 1512 HP:0001645 Sudden cardiac death ORPHANET:2073 CTSH 1512 HP:0001513 Obesity OMIM:611263 IFT80 57560 HP:0010049 Short metacarpal OMIM:611263 IFT80 57560 HP:0000007 Autosomal recessive inheritance OMIM:611263 IFT80 57560 HP:0001156 Brachydactyly syndrome OMIM:611263 IFT80 57560 HP:0000774 Narrow chest OMIM:611263 IFT80 57560 HP:0001773 Short foot OMIM:611263 IFT80 57560 HP:0008905 Rhizomelia OMIM:611263 IFT80 57560 HP:0003027 Mesomelia OMIM:611263 IFT80 57560 HP:0001169 Broad palm OMIM:611263 IFT80 57560 HP:0001162 Postaxial hand polydactyly OMIM:608978 WT1 7490 HP:0000776 Congenital diaphragmatic hernia OMIM:608978 WT1 7490 HP:0001643 Patent ductus arteriosus OMIM:608978 WT1 7490 HP:0000142 Abnormality of the vagina OMIM:608978 WT1 7490 HP:0001636 Tetralogy of Fallot OMIM:608978 WT1 7490 HP:0004383 Hypoplastic left heart OMIM:608978 WT1 7490 HP:0001743 Abnormality of the spleen OMIM:608978 WT1 7490 HP:0008736 Hypoplasia of penis OMIM:608978 WT1 7490 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:608978 WT1 7490 HP:0001669 Transposition of the great arteries OMIM:608978 WT1 7490 HP:0010772 Anomalous pulmonary venous return OMIM:608978 WT1 7490 HP:0001631 Defect in the atrial septum OMIM:608978 WT1 7490 HP:0000062 Ambiguous genitalia OMIM:608978 WT1 7490 HP:0001679 Abnormality of the aorta OMIM:608978 WT1 7490 HP:0002101 Abnormal lung lobation OMIM:608978 WT1 7490 HP:0000028 Cryptorchidism OMIM:608978 WT1 7490 HP:0001696 Situs inversus totalis OMIM:608978 WT1 7490 HP:0100542 Abnormal localization of kidney OMIM:608978 WT1 7490 HP:0001629 Ventricular septal defect OMIM:116300 VIM 7431 HP:0000006 Autosomal dominant inheritance OMIM:116300 VIM 7431 HP:0007657 Diffuse nuclear cataract ORPHANET:1522 ANKH 56172 HP:0010628 Facial palsy ORPHANET:1522 ANKH 56172 HP:0000405 Conductive hearing impairment ORPHANET:1522 ANKH 56172 HP:0005280 Depressed nasal bridge ORPHANET:1522 ANKH 56172 HP:0004493 Craniofacial hyperostosis ORPHANET:1522 ANKH 56172 HP:0000431 Wide nasal bridge ORPHANET:1522 ANKH 56172 HP:0000407 Sensorineural hearing impairment ORPHANET:1522 ANKH 56172 HP:0011001 Increased bone mineral density ORPHANET:1522 ANKH 56172 HP:0000944 Abnormality of the metaphyses ORPHANET:1522 ANKH 56172 HP:0000316 Hypertelorism ORPHANET:1522 ANKH 56172 HP:0000506 Telecanthus ORPHANET:1522 ANKH 56172 HP:0002652 Skeletal dysplasia ORPHANET:1522 ANKH 56172 HP:0000505 Visual impairment ORPHANET:1522 GJA1 2697 HP:0010628 Facial palsy ORPHANET:1522 GJA1 2697 HP:0000405 Conductive hearing impairment ORPHANET:1522 GJA1 2697 HP:0005280 Depressed nasal bridge ORPHANET:1522 GJA1 2697 HP:0004493 Craniofacial hyperostosis ORPHANET:1522 GJA1 2697 HP:0000431 Wide nasal bridge ORPHANET:1522 GJA1 2697 HP:0000407 Sensorineural hearing impairment ORPHANET:1522 GJA1 2697 HP:0011001 Increased bone mineral density ORPHANET:1522 GJA1 2697 HP:0000944 Abnormality of the metaphyses ORPHANET:1522 GJA1 2697 HP:0000316 Hypertelorism ORPHANET:1522 GJA1 2697 HP:0000506 Telecanthus ORPHANET:1522 GJA1 2697 HP:0002652 Skeletal dysplasia ORPHANET:1522 GJA1 2697 HP:0000505 Visual impairment OMIM:615007 PDGFRB 5159 HP:0001300 Parkinsonism OMIM:615007 PDGFRB 5159 HP:0000726 Dementia OMIM:615007 PDGFRB 5159 HP:0000006 Autosomal dominant inheritance OMIM:615007 PDGFRB 5159 HP:0002076 Migraine OMIM:615007 PDGFRB 5159 HP:0000639 Nystagmus OMIM:615007 PDGFRB 5159 HP:0002135 Basal ganglia calcification OMIM:156200 MBD5 55777 HP:0002167 Neurological speech impairment OMIM:156200 MBD5 55777 HP:0008897 Postnatal growth retardation OMIM:156200 MBD5 55777 HP:0002648 Abnormality of calvarial morphology OMIM:156200 MBD5 55777 HP:0000272 Malar flattening OMIM:156200 MBD5 55777 HP:0000337 Broad forehead OMIM:156200 MBD5 55777 HP:0008872 Feeding difficulties in infancy OMIM:156200 MBD5 55777 HP:0000505 Visual impairment OMIM:156200 MBD5 55777 HP:0000369 Low-set ears OMIM:156200 MBD5 55777 HP:0001249 Intellectual disability OMIM:156200 MBD5 55777 HP:0000252 Microcephaly OMIM:156200 MBD5 55777 HP:0000687 Widely spaced teeth OMIM:156200 MBD5 55777 HP:0002591 Polyphagia OMIM:156200 MBD5 55777 HP:0000347 Micrognathia OMIM:156200 MBD5 55777 HP:0000378 Cupped ear OMIM:156200 MBD5 55777 HP:0000483 Astigmatism OMIM:156200 MBD5 55777 HP:0100716 Self-injurious behavior OMIM:156200 MBD5 55777 HP:0000565 Esotropia OMIM:156200 MBD5 55777 HP:0000545 Myopia OMIM:156200 MBD5 55777 HP:0000194 Open mouth OMIM:156200 MBD5 55777 HP:0002007 Frontal bossing OMIM:156200 MBD5 55777 HP:0000278 Retrognathia OMIM:156200 MBD5 55777 HP:0000718 Aggressive behavior OMIM:156200 MBD5 55777 HP:0001773 Short foot OMIM:156200 MBD5 55777 HP:0010804 Tented upper lip vermilion OMIM:156200 MBD5 55777 HP:0002463 Language impairment OMIM:156200 MBD5 55777 HP:0001156 Brachydactyly syndrome OMIM:156200 MBD5 55777 HP:0000154 Wide mouth OMIM:156200 MBD5 55777 HP:0001852 Sandal gap OMIM:156200 MBD5 55777 HP:0004322 Short stature OMIM:156200 MBD5 55777 HP:0001252 Muscular hypotonia OMIM:156200 MBD5 55777 HP:0002311 Incoordination OMIM:156200 MBD5 55777 HP:0200055 Small hand OMIM:156200 MBD5 55777 HP:0000178 Abnormality of lower lip OMIM:156200 MBD5 55777 HP:0001270 Motor delay OMIM:156200 MBD5 55777 HP:0002360 Sleep disturbance OMIM:156200 MBD5 55777 HP:0000280 Coarse facial features OMIM:156200 MBD5 55777 HP:0000219 Thin upper lip vermilion OMIM:156200 MBD5 55777 HP:0002553 Highly arched eyebrow OMIM:156200 MBD5 55777 HP:0000331 Short chin OMIM:156200 MBD5 55777 HP:0100738 Abnormal eating behavior OMIM:156200 MBD5 55777 HP:0004209 Clinodactyly of the 5th finger OMIM:156200 MBD5 55777 HP:0000448 Prominent nose OMIM:156200 MBD5 55777 HP:0000414 Bulbous nose OMIM:156200 MBD5 55777 HP:0000664 Synophrys OMIM:156200 MBD5 55777 HP:0003272 Abnormality of the hip bone OMIM:156200 MBD5 55777 HP:0008736 Hypoplasia of penis OMIM:156200 MBD5 55777 HP:0002200 Pseudobulbar signs OMIM:156200 MBD5 55777 HP:0008551 Microtia OMIM:156200 MBD5 55777 HP:0000411 Protruding ear OMIM:156200 MBD5 55777 HP:0002714 Downturned corners of mouth OMIM:156200 MBD5 55777 HP:0000574 Thick eyebrow OMIM:156200 MBD5 55777 HP:0001251 Ataxia OMIM:156200 MBD5 55777 HP:0000232 Everted lower lip vermilion OMIM:156200 MBD5 55777 HP:0002373 Febrile seizures OMIM:156200 MBD5 55777 HP:0001572 Macrodontia OMIM:156200 MBD5 55777 HP:0100543 Cognitive impairment OMIM:156200 MBD5 55777 HP:0000736 Short attention span OMIM:156200 MBD5 55777 HP:0002019 Constipation OMIM:156200 MBD5 55777 HP:0000733 Stereotypic behavior OMIM:156200 MBD5 55777 HP:0000540 Hypermetropia OMIM:156200 MBD5 55777 HP:0000006 Autosomal dominant inheritance OMIM:156200 MBD5 55777 HP:0003196 Short nose OMIM:156200 MBD5 55777 HP:0000028 Cryptorchidism OMIM:609628 LPIN2 9663 HP:0002757 Recurrent fractures OMIM:609628 LPIN2 9663 HP:0100774 Hyperostosis OMIM:609628 LPIN2 9663 HP:0002829 Arthralgia OMIM:609628 LPIN2 9663 HP:0001744 Splenomegaly OMIM:609628 LPIN2 9663 HP:0000093 Proteinuria OMIM:609628 LPIN2 9663 HP:0002024 Malabsorption OMIM:609628 LPIN2 9663 HP:0000790 Hematuria OMIM:609628 LPIN2 9663 HP:0100820 Glomerulopathy OMIM:609628 LPIN2 9663 HP:0002633 Vasculitis OMIM:609628 LPIN2 9663 HP:0004348 Abnormality of bone mineral density OMIM:609628 LPIN2 9663 HP:0001369 Arthritis OMIM:609628 LPIN2 9663 HP:0001974 Leukocytosis OMIM:609628 LPIN2 9663 HP:0002076 Migraine OMIM:609628 LPIN2 9663 HP:0003326 Myalgia OMIM:609628 LPIN2 9663 HP:0002113 Pulmonary infiltrates OMIM:609628 LPIN2 9663 HP:0000988 Skin rash OMIM:609628 LPIN2 9663 HP:0001061 Acne OMIM:609628 LPIN2 9663 HP:0000944 Abnormality of the metaphyses OMIM:609628 LPIN2 9663 HP:0002653 Bone pain OMIM:609628 LPIN2 9663 HP:0001371 Flexion contracture OMIM:609628 LPIN2 9663 HP:0001935 Microcytic anemia OMIM:609628 LPIN2 9663 HP:0200039 Pustule OMIM:609628 LPIN2 9663 HP:0008066 Abnormal blistering of the skin OMIM:609628 LPIN2 9663 HP:0002240 Hepatomegaly OMIM:609628 LPIN2 9663 HP:0004370 Abnormality of temperature regulation OMIM:609628 LPIN2 9663 HP:0001824 Weight loss OMIM:609628 LPIN2 9663 HP:0000969 Edema OMIM:609628 LPIN2 9663 HP:0002754 Osteomyelitis OMIM:609628 LPIN2 9663 HP:0100533 Inflammatory abnormality of the eye OMIM:615821 DSP 1832 HP:0001644 Dilated cardiomyopathy OMIM:615821 DSP 1832 HP:0001279 Syncope OMIM:615821 DSP 1832 HP:0000982 Palmoplantar keratoderma OMIM:615821 DSP 1832 HP:0001820 Leukonychia OMIM:615821 DSP 1832 HP:0002224 Woolly hair OMIM:615821 DSP 1832 HP:0001808 Fragile nails OMIM:124020 CYP2C19 1557 HP:0000007 Autosomal recessive inheritance OMIM:124020 CYP2C19 1557 HP:0001939 Abnormality of metabolism/homeostasis OMIM:193220 BEST1 7439 HP:0008043 Retinal arteriolar constriction OMIM:193220 BEST1 7439 HP:0000648 Optic atrophy OMIM:193220 BEST1 7439 HP:0000541 Retinal detachment OMIM:193220 BEST1 7439 HP:0010693 Pulverulent Cataract OMIM:193220 BEST1 7439 HP:0000568 Microphthalmos OMIM:193220 BEST1 7439 HP:0000006 Autosomal dominant inheritance OMIM:193220 BEST1 7439 HP:0000580 Pigmentary retinopathy OMIM:193220 BEST1 7439 HP:0007661 Chorioretinal hypopigmentation or hyperpigmentation OMIM:193220 BEST1 7439 HP:0008063 Aplasia/Hypoplasia of the lens OMIM:193220 BEST1 7439 HP:0000486 Strabismus OMIM:193220 BEST1 7439 HP:0000501 Glaucoma OMIM:193220 BEST1 7439 HP:0000482 Microcornea OMIM:193220 BEST1 7439 HP:0007703 Abnormal retinal pigmentation OMIM:193220 BEST1 7439 HP:0007985 Retinal arteriolar occlusion OMIM:193220 BEST1 7439 HP:0007902 Vitreous hemorrhage OMIM:193220 BEST1 7439 HP:0000551 Abnormality of color vision OMIM:193220 BEST1 7439 HP:0000639 Nystagmus OMIM:193220 BEST1 7439 HP:0000662 Night blindness OMIM:193220 BEST1 7439 HP:0007641 Dyschromatopsia OMIM:193220 BEST1 7439 HP:0000512 Abnormal electroretinogram OMIM:608569 ABCC9 10060 HP:0004756 Ventricular tachycardia OMIM:608569 ABCC9 10060 HP:0000006 Autosomal dominant inheritance OMIM:608569 ABCC9 10060 HP:0006670 Impaired myocardial contractility OMIM:608569 ABCC9 10060 HP:0001644 Dilated cardiomyopathy OMIM:610448 TREX1 11277 HP:0000006 Autosomal dominant inheritance OMIM:610448 TREX1 11277 HP:0003621 Juvenile onset OMIM:610448 TREX1 11277 HP:0200042 Skin ulcer OMIM:610448 TREX1 11277 HP:0001597 Abnormality of the nail OMIM:610448 TREX1 11277 HP:0003493 Antinuclear antibody positivity OMIM:610448 TREX1 11277 HP:0002829 Arthralgia OMIM:614831 GRM1 2911 HP:0000508 Ptosis OMIM:614831 GRM1 2911 HP:0004322 Short stature OMIM:614831 GRM1 2911 HP:0001249 Intellectual disability OMIM:614831 GRM1 2911 HP:0000571 Hypometric saccades OMIM:614831 GRM1 2911 HP:0002075 Dysdiadochokinesis OMIM:614831 GRM1 2911 HP:0006951 Retrocerebellar cyst OMIM:614831 GRM1 2911 HP:0003593 Infantile onset OMIM:614831 GRM1 2911 HP:0001252 Muscular hypotonia OMIM:614831 GRM1 2911 HP:0001310 Dysmetria OMIM:614831 GRM1 2911 HP:0000666 Horizontal nystagmus OMIM:614831 GRM1 2911 HP:0001763 Pes planus OMIM:614831 GRM1 2911 HP:0001337 Tremor OMIM:614831 GRM1 2911 HP:0000565 Esotropia OMIM:614831 GRM1 2911 HP:0002119 Ventriculomegaly OMIM:614831 GRM1 2911 HP:0001260 Dysarthria OMIM:614831 GRM1 2911 HP:0003677 Slow progression OMIM:614831 GRM1 2911 HP:0001250 Seizures OMIM:614831 GRM1 2911 HP:0001272 Cerebellar atrophy OMIM:614831 GRM1 2911 HP:0007068 Inferior vermis hypoplasia OMIM:614831 GRM1 2911 HP:0001347 Hyperreflexia OMIM:614831 GRM1 2911 HP:0000007 Autosomal recessive inheritance OMIM:614831 GRM1 2911 HP:0001263 Global developmental delay OMIM:264600 SRD5A2 6716 HP:0000033 Ambiguous genitalia, male OMIM:264600 SRD5A2 6716 HP:0000048 Bifid scrotum OMIM:264600 SRD5A2 6716 HP:0000818 Abnormality of the endocrine system OMIM:264600 SRD5A2 6716 HP:0003812 Phenotypic variability OMIM:264600 SRD5A2 6716 HP:0001939 Abnormality of metabolism/homeostasis OMIM:264600 SRD5A2 6716 HP:0100627 Displacement of the external urethral meatus OMIM:264600 SRD5A2 6716 HP:0000037 Male pseudohermaphroditism OMIM:264600 SRD5A2 6716 HP:0000028 Cryptorchidism OMIM:264600 SRD5A2 6716 HP:0000046 Scrotal hypoplasia OMIM:264600 SRD5A2 6716 HP:0008736 Hypoplasia of penis OMIM:264600 SRD5A2 6716 HP:0000007 Autosomal recessive inheritance OMIM:264600 SRD5A2 6716 HP:0100779 Urogenital sinus anomaly OMIM:264600 SRD5A2 6716 HP:0000062 Ambiguous genitalia OMIM:264600 SRD5A2 6716 HP:0000054 Micropenis OMIM:264600 SRD5A2 6716 HP:0000144 Decreased fertility OMIM:264600 SRD5A2 6716 HP:0001608 Abnormality of the voice OMIM:264600 SRD5A2 6716 HP:0000051 Perineal hypospadias OMIM:264600 SRD5A2 6716 HP:0001595 Abnormality of the hair ORPHANET:154 RBM20 282996 HP:0003457 EMG abnormality ORPHANET:154 RBM20 282996 HP:0003198 Myopathy ORPHANET:154 RBM20 282996 HP:0000982 Palmoplantar keratoderma ORPHANET:154 RBM20 282996 HP:0100578 Lipoatrophy ORPHANET:154 RBM20 282996 HP:0001874 Abnormality of neutrophils ORPHANET:154 RBM20 282996 HP:0000407 Sensorineural hearing impairment ORPHANET:154 RBM20 282996 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 PLN 5350 HP:0003457 EMG abnormality ORPHANET:154 PLN 5350 HP:0003198 Myopathy ORPHANET:154 PLN 5350 HP:0000982 Palmoplantar keratoderma ORPHANET:154 PLN 5350 HP:0100578 Lipoatrophy ORPHANET:154 PLN 5350 HP:0001874 Abnormality of neutrophils ORPHANET:154 PLN 5350 HP:0000407 Sensorineural hearing impairment ORPHANET:154 PLN 5350 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 SCN5A 6331 HP:0003457 EMG abnormality ORPHANET:154 SCN5A 6331 HP:0003198 Myopathy ORPHANET:154 SCN5A 6331 HP:0000982 Palmoplantar keratoderma ORPHANET:154 SCN5A 6331 HP:0100578 Lipoatrophy ORPHANET:154 SCN5A 6331 HP:0001874 Abnormality of neutrophils ORPHANET:154 SCN5A 6331 HP:0000407 Sensorineural hearing impairment ORPHANET:154 SCN5A 6331 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 VCL 7414 HP:0003457 EMG abnormality ORPHANET:154 VCL 7414 HP:0003198 Myopathy ORPHANET:154 VCL 7414 HP:0000982 Palmoplantar keratoderma ORPHANET:154 VCL 7414 HP:0100578 Lipoatrophy ORPHANET:154 VCL 7414 HP:0001874 Abnormality of neutrophils ORPHANET:154 VCL 7414 HP:0000407 Sensorineural hearing impairment ORPHANET:154 VCL 7414 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 TMPO 7112 HP:0003457 EMG abnormality ORPHANET:154 TMPO 7112 HP:0003198 Myopathy ORPHANET:154 TMPO 7112 HP:0000982 Palmoplantar keratoderma ORPHANET:154 TMPO 7112 HP:0100578 Lipoatrophy ORPHANET:154 TMPO 7112 HP:0001874 Abnormality of neutrophils ORPHANET:154 TMPO 7112 HP:0000407 Sensorineural hearing impairment ORPHANET:154 TMPO 7112 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 ACTC1 70 HP:0003457 EMG abnormality ORPHANET:154 ACTC1 70 HP:0003198 Myopathy ORPHANET:154 ACTC1 70 HP:0000982 Palmoplantar keratoderma ORPHANET:154 ACTC1 70 HP:0100578 Lipoatrophy ORPHANET:154 ACTC1 70 HP:0001874 Abnormality of neutrophils ORPHANET:154 ACTC1 70 HP:0000407 Sensorineural hearing impairment ORPHANET:154 ACTC1 70 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 MYBPC3 4607 HP:0003457 EMG abnormality ORPHANET:154 MYBPC3 4607 HP:0003198 Myopathy ORPHANET:154 MYBPC3 4607 HP:0000982 Palmoplantar keratoderma ORPHANET:154 MYBPC3 4607 HP:0100578 Lipoatrophy ORPHANET:154 MYBPC3 4607 HP:0001874 Abnormality of neutrophils ORPHANET:154 MYBPC3 4607 HP:0000407 Sensorineural hearing impairment ORPHANET:154 MYBPC3 4607 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 PRDM16 63976 HP:0003457 EMG abnormality ORPHANET:154 PRDM16 63976 HP:0003198 Myopathy ORPHANET:154 PRDM16 63976 HP:0000982 Palmoplantar keratoderma ORPHANET:154 PRDM16 63976 HP:0100578 Lipoatrophy ORPHANET:154 PRDM16 63976 HP:0001874 Abnormality of neutrophils ORPHANET:154 PRDM16 63976 HP:0000407 Sensorineural hearing impairment ORPHANET:154 PRDM16 63976 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 SDHA 6389 HP:0003457 EMG abnormality ORPHANET:154 SDHA 6389 HP:0003198 Myopathy ORPHANET:154 SDHA 6389 HP:0000982 Palmoplantar keratoderma ORPHANET:154 SDHA 6389 HP:0100578 Lipoatrophy ORPHANET:154 SDHA 6389 HP:0001874 Abnormality of neutrophils ORPHANET:154 SDHA 6389 HP:0000407 Sensorineural hearing impairment ORPHANET:154 SDHA 6389 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 SGCD 6444 HP:0003457 EMG abnormality ORPHANET:154 SGCD 6444 HP:0003198 Myopathy ORPHANET:154 SGCD 6444 HP:0000982 Palmoplantar keratoderma ORPHANET:154 SGCD 6444 HP:0100578 Lipoatrophy ORPHANET:154 SGCD 6444 HP:0001874 Abnormality of neutrophils ORPHANET:154 SGCD 6444 HP:0000407 Sensorineural hearing impairment ORPHANET:154 SGCD 6444 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 CRYAB 1410 HP:0003457 EMG abnormality ORPHANET:154 CRYAB 1410 HP:0003198 Myopathy ORPHANET:154 CRYAB 1410 HP:0000982 Palmoplantar keratoderma ORPHANET:154 CRYAB 1410 HP:0100578 Lipoatrophy ORPHANET:154 CRYAB 1410 HP:0001874 Abnormality of neutrophils ORPHANET:154 CRYAB 1410 HP:0000407 Sensorineural hearing impairment ORPHANET:154 CRYAB 1410 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 MYPN 84665 HP:0003457 EMG abnormality ORPHANET:154 MYPN 84665 HP:0003198 Myopathy ORPHANET:154 MYPN 84665 HP:0000982 Palmoplantar keratoderma ORPHANET:154 MYPN 84665 HP:0100578 Lipoatrophy ORPHANET:154 MYPN 84665 HP:0001874 Abnormality of neutrophils ORPHANET:154 MYPN 84665 HP:0000407 Sensorineural hearing impairment ORPHANET:154 MYPN 84665 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 PSEN1 5663 HP:0003457 EMG abnormality ORPHANET:154 PSEN1 5663 HP:0003198 Myopathy ORPHANET:154 PSEN1 5663 HP:0000982 Palmoplantar keratoderma ORPHANET:154 PSEN1 5663 HP:0100578 Lipoatrophy ORPHANET:154 PSEN1 5663 HP:0001874 Abnormality of neutrophils ORPHANET:154 PSEN1 5663 HP:0000407 Sensorineural hearing impairment ORPHANET:154 PSEN1 5663 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 MYH6 4624 HP:0003457 EMG abnormality ORPHANET:154 MYH6 4624 HP:0003198 Myopathy ORPHANET:154 MYH6 4624 HP:0000982 Palmoplantar keratoderma ORPHANET:154 MYH6 4624 HP:0100578 Lipoatrophy ORPHANET:154 MYH6 4624 HP:0001874 Abnormality of neutrophils ORPHANET:154 MYH6 4624 HP:0000407 Sensorineural hearing impairment ORPHANET:154 MYH6 4624 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 TNNC1 7134 HP:0003457 EMG abnormality ORPHANET:154 TNNC1 7134 HP:0003198 Myopathy ORPHANET:154 TNNC1 7134 HP:0000982 Palmoplantar keratoderma ORPHANET:154 TNNC1 7134 HP:0100578 Lipoatrophy ORPHANET:154 TNNC1 7134 HP:0001874 Abnormality of neutrophils ORPHANET:154 TNNC1 7134 HP:0000407 Sensorineural hearing impairment ORPHANET:154 TNNC1 7134 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 MYH7 4625 HP:0003457 EMG abnormality ORPHANET:154 MYH7 4625 HP:0003198 Myopathy ORPHANET:154 MYH7 4625 HP:0000982 Palmoplantar keratoderma ORPHANET:154 MYH7 4625 HP:0100578 Lipoatrophy ORPHANET:154 MYH7 4625 HP:0001874 Abnormality of neutrophils ORPHANET:154 MYH7 4625 HP:0000407 Sensorineural hearing impairment ORPHANET:154 MYH7 4625 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 TTN 7273 HP:0003457 EMG abnormality ORPHANET:154 TTN 7273 HP:0003198 Myopathy ORPHANET:154 TTN 7273 HP:0000982 Palmoplantar keratoderma ORPHANET:154 TTN 7273 HP:0100578 Lipoatrophy ORPHANET:154 TTN 7273 HP:0001874 Abnormality of neutrophils ORPHANET:154 TTN 7273 HP:0000407 Sensorineural hearing impairment ORPHANET:154 TTN 7273 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 GATAD1 57798 HP:0003457 EMG abnormality ORPHANET:154 GATAD1 57798 HP:0003198 Myopathy ORPHANET:154 GATAD1 57798 HP:0000982 Palmoplantar keratoderma ORPHANET:154 GATAD1 57798 HP:0100578 Lipoatrophy ORPHANET:154 GATAD1 57798 HP:0001874 Abnormality of neutrophils ORPHANET:154 GATAD1 57798 HP:0000407 Sensorineural hearing impairment ORPHANET:154 GATAD1 57798 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 RAF1 5894 HP:0003457 EMG abnormality ORPHANET:154 RAF1 5894 HP:0003198 Myopathy ORPHANET:154 RAF1 5894 HP:0000982 Palmoplantar keratoderma ORPHANET:154 RAF1 5894 HP:0100578 Lipoatrophy ORPHANET:154 RAF1 5894 HP:0001874 Abnormality of neutrophils ORPHANET:154 RAF1 5894 HP:0000407 Sensorineural hearing impairment ORPHANET:154 RAF1 5894 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 DSG2 1829 HP:0003457 EMG abnormality ORPHANET:154 DSG2 1829 HP:0003198 Myopathy ORPHANET:154 DSG2 1829 HP:0000982 Palmoplantar keratoderma ORPHANET:154 DSG2 1829 HP:0100578 Lipoatrophy ORPHANET:154 DSG2 1829 HP:0001874 Abnormality of neutrophils ORPHANET:154 DSG2 1829 HP:0000407 Sensorineural hearing impairment ORPHANET:154 DSG2 1829 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 DOLK 22845 HP:0003457 EMG abnormality ORPHANET:154 DOLK 22845 HP:0003198 Myopathy ORPHANET:154 DOLK 22845 HP:0000982 Palmoplantar keratoderma ORPHANET:154 DOLK 22845 HP:0100578 Lipoatrophy ORPHANET:154 DOLK 22845 HP:0001874 Abnormality of neutrophils ORPHANET:154 DOLK 22845 HP:0000407 Sensorineural hearing impairment ORPHANET:154 DOLK 22845 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 ACTN2 88 HP:0003457 EMG abnormality ORPHANET:154 ACTN2 88 HP:0003198 Myopathy ORPHANET:154 ACTN2 88 HP:0000982 Palmoplantar keratoderma ORPHANET:154 ACTN2 88 HP:0100578 Lipoatrophy ORPHANET:154 ACTN2 88 HP:0001874 Abnormality of neutrophils ORPHANET:154 ACTN2 88 HP:0000407 Sensorineural hearing impairment ORPHANET:154 ACTN2 88 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 TXNRD2 10587 HP:0003457 EMG abnormality ORPHANET:154 TXNRD2 10587 HP:0003198 Myopathy ORPHANET:154 TXNRD2 10587 HP:0000982 Palmoplantar keratoderma ORPHANET:154 TXNRD2 10587 HP:0100578 Lipoatrophy ORPHANET:154 TXNRD2 10587 HP:0001874 Abnormality of neutrophils ORPHANET:154 TXNRD2 10587 HP:0000407 Sensorineural hearing impairment ORPHANET:154 TXNRD2 10587 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 BAG3 9531 HP:0003457 EMG abnormality ORPHANET:154 BAG3 9531 HP:0003198 Myopathy ORPHANET:154 BAG3 9531 HP:0000982 Palmoplantar keratoderma ORPHANET:154 BAG3 9531 HP:0100578 Lipoatrophy ORPHANET:154 BAG3 9531 HP:0001874 Abnormality of neutrophils ORPHANET:154 BAG3 9531 HP:0000407 Sensorineural hearing impairment ORPHANET:154 BAG3 9531 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 TNNI3 7137 HP:0003457 EMG abnormality ORPHANET:154 TNNI3 7137 HP:0003198 Myopathy ORPHANET:154 TNNI3 7137 HP:0000982 Palmoplantar keratoderma ORPHANET:154 TNNI3 7137 HP:0100578 Lipoatrophy ORPHANET:154 TNNI3 7137 HP:0001874 Abnormality of neutrophils ORPHANET:154 TNNI3 7137 HP:0000407 Sensorineural hearing impairment ORPHANET:154 TNNI3 7137 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 NEXN 91624 HP:0003457 EMG abnormality ORPHANET:154 NEXN 91624 HP:0003198 Myopathy ORPHANET:154 NEXN 91624 HP:0000982 Palmoplantar keratoderma ORPHANET:154 NEXN 91624 HP:0100578 Lipoatrophy ORPHANET:154 NEXN 91624 HP:0001874 Abnormality of neutrophils ORPHANET:154 NEXN 91624 HP:0000407 Sensorineural hearing impairment ORPHANET:154 NEXN 91624 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 TNNT2 7139 HP:0003457 EMG abnormality ORPHANET:154 TNNT2 7139 HP:0003198 Myopathy ORPHANET:154 TNNT2 7139 HP:0000982 Palmoplantar keratoderma ORPHANET:154 TNNT2 7139 HP:0100578 Lipoatrophy ORPHANET:154 TNNT2 7139 HP:0001874 Abnormality of neutrophils ORPHANET:154 TNNT2 7139 HP:0000407 Sensorineural hearing impairment ORPHANET:154 TNNT2 7139 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 LAMA4 3910 HP:0003457 EMG abnormality ORPHANET:154 LAMA4 3910 HP:0003198 Myopathy ORPHANET:154 LAMA4 3910 HP:0000982 Palmoplantar keratoderma ORPHANET:154 LAMA4 3910 HP:0100578 Lipoatrophy ORPHANET:154 LAMA4 3910 HP:0001874 Abnormality of neutrophils ORPHANET:154 LAMA4 3910 HP:0000407 Sensorineural hearing impairment ORPHANET:154 LAMA4 3910 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 TAZ 6901 HP:0003457 EMG abnormality ORPHANET:154 TAZ 6901 HP:0003198 Myopathy ORPHANET:154 TAZ 6901 HP:0000982 Palmoplantar keratoderma ORPHANET:154 TAZ 6901 HP:0100578 Lipoatrophy ORPHANET:154 TAZ 6901 HP:0001874 Abnormality of neutrophils ORPHANET:154 TAZ 6901 HP:0000407 Sensorineural hearing impairment ORPHANET:154 TAZ 6901 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 PSEN2 5664 HP:0003457 EMG abnormality ORPHANET:154 PSEN2 5664 HP:0003198 Myopathy ORPHANET:154 PSEN2 5664 HP:0000982 Palmoplantar keratoderma ORPHANET:154 PSEN2 5664 HP:0100578 Lipoatrophy ORPHANET:154 PSEN2 5664 HP:0001874 Abnormality of neutrophils ORPHANET:154 PSEN2 5664 HP:0000407 Sensorineural hearing impairment ORPHANET:154 PSEN2 5664 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 DES 1674 HP:0003457 EMG abnormality ORPHANET:154 DES 1674 HP:0003198 Myopathy ORPHANET:154 DES 1674 HP:0000982 Palmoplantar keratoderma ORPHANET:154 DES 1674 HP:0100578 Lipoatrophy ORPHANET:154 DES 1674 HP:0001874 Abnormality of neutrophils ORPHANET:154 DES 1674 HP:0000407 Sensorineural hearing impairment ORPHANET:154 DES 1674 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 FKTN 2218 HP:0003457 EMG abnormality ORPHANET:154 FKTN 2218 HP:0003198 Myopathy ORPHANET:154 FKTN 2218 HP:0000982 Palmoplantar keratoderma ORPHANET:154 FKTN 2218 HP:0100578 Lipoatrophy ORPHANET:154 FKTN 2218 HP:0001874 Abnormality of neutrophils ORPHANET:154 FKTN 2218 HP:0000407 Sensorineural hearing impairment ORPHANET:154 FKTN 2218 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 ABCC9 10060 HP:0003457 EMG abnormality ORPHANET:154 ABCC9 10060 HP:0003198 Myopathy ORPHANET:154 ABCC9 10060 HP:0000982 Palmoplantar keratoderma ORPHANET:154 ABCC9 10060 HP:0100578 Lipoatrophy ORPHANET:154 ABCC9 10060 HP:0001874 Abnormality of neutrophils ORPHANET:154 ABCC9 10060 HP:0000407 Sensorineural hearing impairment ORPHANET:154 ABCC9 10060 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 CSRP3 8048 HP:0003457 EMG abnormality ORPHANET:154 CSRP3 8048 HP:0003198 Myopathy ORPHANET:154 CSRP3 8048 HP:0000982 Palmoplantar keratoderma ORPHANET:154 CSRP3 8048 HP:0100578 Lipoatrophy ORPHANET:154 CSRP3 8048 HP:0001874 Abnormality of neutrophils ORPHANET:154 CSRP3 8048 HP:0000407 Sensorineural hearing impairment ORPHANET:154 CSRP3 8048 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 TPM1 7168 HP:0003457 EMG abnormality ORPHANET:154 TPM1 7168 HP:0003198 Myopathy ORPHANET:154 TPM1 7168 HP:0000982 Palmoplantar keratoderma ORPHANET:154 TPM1 7168 HP:0100578 Lipoatrophy ORPHANET:154 TPM1 7168 HP:0001874 Abnormality of neutrophils ORPHANET:154 TPM1 7168 HP:0000407 Sensorineural hearing impairment ORPHANET:154 TPM1 7168 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 TCAP 8557 HP:0003457 EMG abnormality ORPHANET:154 TCAP 8557 HP:0003198 Myopathy ORPHANET:154 TCAP 8557 HP:0000982 Palmoplantar keratoderma ORPHANET:154 TCAP 8557 HP:0100578 Lipoatrophy ORPHANET:154 TCAP 8557 HP:0001874 Abnormality of neutrophils ORPHANET:154 TCAP 8557 HP:0000407 Sensorineural hearing impairment ORPHANET:154 TCAP 8557 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 DMD 1756 HP:0003457 EMG abnormality ORPHANET:154 DMD 1756 HP:0003198 Myopathy ORPHANET:154 DMD 1756 HP:0000982 Palmoplantar keratoderma ORPHANET:154 DMD 1756 HP:0100578 Lipoatrophy ORPHANET:154 DMD 1756 HP:0001874 Abnormality of neutrophils ORPHANET:154 DMD 1756 HP:0000407 Sensorineural hearing impairment ORPHANET:154 DMD 1756 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 FHL2 2274 HP:0003457 EMG abnormality ORPHANET:154 FHL2 2274 HP:0003198 Myopathy ORPHANET:154 FHL2 2274 HP:0000982 Palmoplantar keratoderma ORPHANET:154 FHL2 2274 HP:0100578 Lipoatrophy ORPHANET:154 FHL2 2274 HP:0001874 Abnormality of neutrophils ORPHANET:154 FHL2 2274 HP:0000407 Sensorineural hearing impairment ORPHANET:154 FHL2 2274 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:154 LDB3 11155 HP:0003457 EMG abnormality ORPHANET:154 LDB3 11155 HP:0003198 Myopathy ORPHANET:154 LDB3 11155 HP:0000982 Palmoplantar keratoderma ORPHANET:154 LDB3 11155 HP:0100578 Lipoatrophy ORPHANET:154 LDB3 11155 HP:0001874 Abnormality of neutrophils ORPHANET:154 LDB3 11155 HP:0000407 Sensorineural hearing impairment ORPHANET:154 LDB3 11155 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:1912 EPHX1 2052 HP:0000316 Hypertelorism ORPHANET:1912 EPHX1 2052 HP:0001199 Triphalangeal thumb ORPHANET:1912 EPHX1 2052 HP:0002208 Coarse hair ORPHANET:1912 EPHX1 2052 HP:0000286 Epicanthus ORPHANET:1912 EPHX1 2052 HP:0000252 Microcephaly ORPHANET:1912 EPHX1 2052 HP:0100790 Hernia ORPHANET:1912 EPHX1 2052 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:1912 EPHX1 2052 HP:0000232 Everted lower lip vermilion ORPHANET:1912 EPHX1 2052 HP:0000474 Thickened nuchal skin fold ORPHANET:1912 EPHX1 2052 HP:0000028 Cryptorchidism ORPHANET:1912 EPHX1 2052 HP:0000364 Hearing abnormality ORPHANET:1912 EPHX1 2052 HP:0004322 Short stature ORPHANET:1912 EPHX1 2052 HP:0000175 Cleft palate ORPHANET:1912 EPHX1 2052 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:1912 EPHX1 2052 HP:0001798 Anonychia ORPHANET:1912 EPHX1 2052 HP:0002162 Low posterior hairline ORPHANET:1912 EPHX1 2052 HP:0003196 Short nose ORPHANET:1912 EPHX1 2052 HP:0100543 Cognitive impairment ORPHANET:1912 EPHX1 2052 HP:0000154 Wide mouth ORPHANET:1912 EPHX1 2052 HP:0001156 Brachydactyly syndrome ORPHANET:1912 EPHX1 2052 HP:0004404 Abnormality of the nipple ORPHANET:1912 EPHX1 2052 HP:0001511 Intrauterine growth retardation ORPHANET:1912 EPHX1 2052 HP:0000457 Depressed nasal ridge ORPHANET:1912 EPHX1 2052 HP:0007477 Abnormal dermatoglyphics ORPHANET:1912 EPHX1 2052 HP:0002664 Neoplasm ORPHANET:1912 EPHX1 2052 HP:0000486 Strabismus ORPHANET:1912 EPHX1 2052 HP:0000048 Bifid scrotum ORPHANET:1912 EPHX1 2052 HP:0000508 Ptosis ORPHANET:1912 EPHX1 2052 HP:0001626 Abnormality of the cardiovascular system OMIM:607936 CSTA 1475 HP:0000962 Hyperkeratosis OMIM:607936 CSTA 1475 HP:0100725 Lichenification OMIM:607936 CSTA 1475 HP:0008064 Ichthyosis OMIM:607936 CSTA 1475 HP:0000007 Autosomal recessive inheritance OMIM:260660 TBX15 6913 HP:0000882 Hypoplastic scapulae OMIM:260660 TBX15 6913 HP:0000890 Long clavicles OMIM:260660 TBX15 6913 HP:0000581 Blepharophimosis OMIM:260660 TBX15 6913 HP:0001591 Bell-shaped thorax OMIM:260660 TBX15 6913 HP:0000238 Hydrocephalus OMIM:260660 TBX15 6913 HP:0009937 Facial hirsutism OMIM:260660 TBX15 6913 HP:0000033 Ambiguous genitalia, male OMIM:260660 TBX15 6913 HP:0003083 Dislocated radial head OMIM:260660 TBX15 6913 HP:0000568 Microphthalmos OMIM:260660 TBX15 6913 HP:0012745 Short palpebral fissure OMIM:260660 TBX15 6913 HP:0002324 Hydranencephaly OMIM:260660 TBX15 6913 HP:0002866 Hypoplastic iliac wing OMIM:260660 TBX15 6913 HP:0004209 Clinodactyly of the 5th finger OMIM:260660 TBX15 6913 HP:0009473 Joint contracture of the hand OMIM:260660 TBX15 6913 HP:0004691 2-3 toe syndactyly OMIM:260660 TBX15 6913 HP:0008472 Prominent protruding coccyx OMIM:260660 TBX15 6913 HP:0003027 Mesomelia OMIM:260660 TBX15 6913 HP:0004692 4-5 toe syndactyly OMIM:260660 TBX15 6913 HP:0000347 Micrognathia OMIM:260660 TBX15 6913 HP:0001999 Abnormal facial shape OMIM:260660 TBX15 6913 HP:0000061 Ambiguous genitalia, female OMIM:260660 TBX15 6913 HP:0003175 Hypoplastic ischia OMIM:260660 TBX15 6913 HP:0000482 Microcornea OMIM:260660 TBX15 6913 HP:0003173 Hypoplastic pubic bone OMIM:260660 TBX15 6913 HP:0000126 Hydronephrosis OMIM:260660 TBX15 6913 HP:0006077 Absent proximal finger flexion creases OMIM:260660 TBX15 6913 HP:0000175 Cleft palate OMIM:260660 TBX15 6913 HP:0009085 Alveolar ridge overgrowth OMIM:260660 TBX15 6913 HP:0001239 Wrist flexion contracture OMIM:260660 TBX15 6913 HP:0012385 Camptodactyly OMIM:260660 TBX15 6913 HP:0002990 Fibular aplasia OMIM:260660 TBX15 6913 HP:0000007 Autosomal recessive inheritance OMIM:260660 TBX15 6913 HP:0008488 Anterior rounding of vertebral bodies OMIM:260660 TBX15 6913 HP:0001770 Toe syndactyly OMIM:260660 TBX15 6913 HP:0011266 Microtia, first degree OMIM:260660 TBX15 6913 HP:0008905 Rhizomelia OMIM:260660 TBX15 6913 HP:0001762 Talipes equinovarus OMIM:260660 TBX15 6913 HP:0000171 Microglossia OMIM:613704 GDF3 9573 HP:0000568 Microphthalmos OMIM:601813 LRP5 4041 HP:0001489 Vitreous detachment OMIM:601813 LRP5 4041 HP:0001147 Retinal exudate OMIM:601813 LRP5 4041 HP:0007685 Peripheral retinal avascularization OMIM:601813 LRP5 4041 HP:0000007 Autosomal recessive inheritance OMIM:601813 LRP5 4041 HP:0000938 Osteopenia OMIM:601813 LRP5 4041 HP:0003593 Infantile onset OMIM:601813 LRP5 4041 HP:0007902 Vitreous hemorrhage OMIM:601813 LRP5 4041 HP:0007917 Tractional retinal detachment OMIM:601813 LRP5 4041 HP:0001493 Falciform retinal fold OMIM:601813 LRP5 4041 HP:0007811 Horizontal pendular nystagmus OMIM:601813 LRP5 4041 HP:0000523 Subcapsular cataract OMIM:601813 LRP5 4041 HP:0000618 Blindness OMIM:601813 LRP5 4041 HP:0000006 Autosomal dominant inheritance OMIM:601813 LRP5 4041 HP:0001146 Pigmentary retinal degeneration OMIM:208540 NPHP3 27031 HP:0001394 Cirrhosis OMIM:208540 NPHP3 27031 HP:0000083 Renal insufficiency OMIM:208540 NPHP3 27031 HP:0001643 Patent ductus arteriosus OMIM:208540 NPHP3 27031 HP:0000007 Autosomal recessive inheritance OMIM:208540 NPHP3 27031 HP:0001746 Asplenia OMIM:208540 NPHP3 27031 HP:0001396 Cholestasis OMIM:208540 NPHP3 27031 HP:0001748 Polysplenia OMIM:208540 NPHP3 27031 HP:0001562 Oligohydramnios OMIM:208540 NPHP3 27031 HP:0005999 Ureteral atresia OMIM:208540 NPHP3 27031 HP:0001737 Pancreatic cysts OMIM:208540 NPHP3 27031 HP:0001395 Hepatic fibrosis OMIM:208540 NPHP3 27031 HP:0001408 Bile duct proliferation OMIM:208540 NPHP3 27031 HP:0000105 Enlarged kidneys OMIM:208540 NPHP3 27031 HP:0000110 Renal dysplasia OMIM:208540 NPHP3 27031 HP:0002240 Hepatomegaly OMIM:208540 NPHP3 27031 HP:0100732 Pancreatic fibrosis OMIM:208540 NPHP3 27031 HP:0000113 Polycystic kidney dysplasia OMIM:208540 NPHP3 27031 HP:0001305 Dandy-Walker malformation OMIM:208540 NPHP3 27031 HP:0002009 Potter facies OMIM:208540 NPHP3 27031 HP:0002613 Biliary cirrhosis OMIM:208540 NPHP3 27031 HP:0002566 Intestinal malrotation OMIM:208540 NPHP3 27031 HP:0001631 Defect in the atrial septum OMIM:208540 NPHP3 27031 HP:0002089 Pulmonary hypoplasia OMIM:208540 NPHP3 27031 HP:0001650 Aortic valve stenosis OMIM:208540 NPHP3 27031 HP:0001407 Hepatic cysts OMIM:614458 TPK1 27010 HP:0003128 Lactic acidosis OMIM:614458 TPK1 27010 HP:0002371 Loss of speech OMIM:614458 TPK1 27010 HP:0001252 Muscular hypotonia OMIM:614458 TPK1 27010 HP:0001257 Spasticity OMIM:614458 TPK1 27010 HP:0001251 Ataxia OMIM:614458 TPK1 27010 HP:0001250 Seizures OMIM:614458 TPK1 27010 HP:0001263 Global developmental delay OMIM:614458 TPK1 27010 HP:0000007 Autosomal recessive inheritance OMIM:614458 TPK1 27010 HP:0002321 Vertigo OMIM:614458 TPK1 27010 HP:0001712 Left ventricular hypertrophy OMIM:614458 TPK1 27010 HP:0001332 Dystonia OMIM:614458 TPK1 27010 HP:0003812 Phenotypic variability OMIM:108500 CACNA1A 773 HP:0003829 Incomplete penetrance OMIM:108500 CACNA1A 773 HP:0006855 Cerebellar vermis atrophy OMIM:108500 CACNA1A 773 HP:0003401 Paresthesia OMIM:108500 CACNA1A 773 HP:0000360 Tinnitus OMIM:108500 CACNA1A 773 HP:0000640 Gaze-evoked nystagmus OMIM:108500 CACNA1A 773 HP:0001332 Dystonia OMIM:108500 CACNA1A 773 HP:0000651 Diplopia OMIM:108500 CACNA1A 773 HP:0001260 Dysarthria OMIM:108500 CACNA1A 773 HP:0001751 Vestibular dysfunction OMIM:108500 CACNA1A 773 HP:0000006 Autosomal dominant inheritance OMIM:108500 CACNA1A 773 HP:0002486 Myotonia OMIM:108500 CACNA1A 773 HP:0002321 Vertigo OMIM:108500 CACNA1A 773 HP:0002076 Migraine OMIM:108500 CACNA1A 773 HP:0010545 Downbeat nystagmus OMIM:108500 CACNA1A 773 HP:0001324 Muscle weakness OMIM:108500 CACNA1A 773 HP:0001152 Saccadic smooth pursuit OMIM:108500 CACNA1A 773 HP:0002073 Progressive cerebellar ataxia OMIM:108500 CACNA1A 773 HP:0002131 Episodic ataxia OMIM:225280 CDH3 1001 HP:0001159 Syndactyly OMIM:225280 CDH3 1001 HP:0000968 Ectodermal dysplasia OMIM:225280 CDH3 1001 HP:0011362 Abnormal hair quantity OMIM:225280 CDH3 1001 HP:0012385 Camptodactyly OMIM:225280 CDH3 1001 HP:0001171 Split hand OMIM:225280 CDH3 1001 HP:0000535 Sparse eyebrow OMIM:225280 CDH3 1001 HP:0006101 Finger syndactyly OMIM:225280 CDH3 1001 HP:0000691 Microdontia OMIM:225280 CDH3 1001 HP:0000687 Widely spaced teeth OMIM:225280 CDH3 1001 HP:0002209 Sparse scalp hair OMIM:225280 CDH3 1001 HP:0009473 Joint contracture of the hand OMIM:225280 CDH3 1001 HP:0000007 Autosomal recessive inheritance OMIM:225280 CDH3 1001 HP:0000488 Retinopathy OMIM:225280 CDH3 1001 HP:0001103 Abnormality of the macula OMIM:225280 CDH3 1001 HP:0007703 Abnormal retinal pigmentation OMIM:225280 CDH3 1001 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:225280 CDH3 1001 HP:0000486 Strabismus OMIM:225280 CDH3 1001 HP:0001592 Selective tooth agenesis OMIM:225280 CDH3 1001 HP:0007754 Macular dystrophy OMIM:225280 CDH3 1001 HP:0000670 Carious teeth OMIM:225280 CDH3 1001 HP:0009804 Reduced number of teeth OMIM:225280 CDH3 1001 HP:0000653 Sparse eyelashes OMIM:610773 SLC25A3 5250 HP:0000007 Autosomal recessive inheritance OMIM:610773 SLC25A3 5250 HP:0002093 Respiratory insufficiency OMIM:610773 SLC25A3 5250 HP:0001252 Muscular hypotonia OMIM:610773 SLC25A3 5250 HP:0012087 Abnormal mitochondrial shape OMIM:610773 SLC25A3 5250 HP:0000961 Cyanosis OMIM:610773 SLC25A3 5250 HP:0003128 Lactic acidosis OMIM:610773 SLC25A3 5250 HP:0001942 Metabolic acidosis OMIM:610773 SLC25A3 5250 HP:0001639 Hypertrophic cardiomyopathy OMIM:314250 TAF1 6872 HP:0001419 X-linked recessive inheritance OMIM:314250 TAF1 6872 HP:0001304 Torsion dystonia OMIM:314250 TAF1 6872 HP:0001337 Tremor OMIM:314250 TAF1 6872 HP:0001336 Myoclonus OMIM:314250 TAF1 6872 HP:0002548 Parkinsonism with favorable response to dopaminergic medication OMIM:314250 TAF1 6872 HP:0003581 Adult onset OMIM:314250 TAF1 6872 HP:0002072 Chorea OMIM:143100 HTT 3064 HP:0000006 Autosomal dominant inheritance OMIM:143100 HTT 3064 HP:0001608 Abnormality of the voice OMIM:143100 HTT 3064 HP:0002529 Neuronal loss in central nervous system OMIM:143100 HTT 3064 HP:0100022 Abnormality of movement OMIM:143100 HTT 3064 HP:0002120 Cerebral cortical atrophy OMIM:143100 HTT 3064 HP:0000751 Personality changes OMIM:143100 HTT 3064 HP:0002376 Developmental regression OMIM:143100 HTT 3064 HP:0000726 Dementia OMIM:143100 HTT 3064 HP:0001276 Hypertonia OMIM:143100 HTT 3064 HP:0000708 Behavioral abnormality OMIM:143100 HTT 3064 HP:0002353 EEG abnormality OMIM:143100 HTT 3064 HP:0000716 Depression OMIM:143100 HTT 3064 HP:0002072 Chorea OMIM:143100 HTT 3064 HP:0002063 Rigidity OMIM:143100 HTT 3064 HP:0002067 Bradykinesia OMIM:143100 HTT 3064 HP:0000496 Abnormality of eye movement OMIM:143100 HTT 3064 HP:0001347 Hyperreflexia OMIM:143100 HTT 3064 HP:0002171 Gliosis OMIM:615369 CHD2 1106 HP:0002121 Absence seizures OMIM:615369 CHD2 1106 HP:0002133 Status epilepticus OMIM:615369 CHD2 1106 HP:0001263 Global developmental delay OMIM:615369 CHD2 1106 HP:0010819 Atonic seizures OMIM:615369 CHD2 1106 HP:0000729 Autistic behavior OMIM:615369 CHD2 1106 HP:0002353 EEG abnormality OMIM:615369 CHD2 1106 HP:0002373 Febrile seizures OMIM:615369 CHD2 1106 HP:0200134 Epileptic encephalopathy OMIM:615369 CHD2 1106 HP:0000006 Autosomal dominant inheritance OMIM:615369 CHD2 1106 HP:0000992 Cutaneous photosensitivity OMIM:615369 CHD2 1106 HP:0001249 Intellectual disability OMIM:615369 CHD2 1106 HP:0002123 Generalized myoclonic seizures OMIM:615369 CHD2 1106 HP:0002376 Developmental regression ORPHANET:3416 SOST 50964 HP:0004493 Craniofacial hyperostosis ORPHANET:3416 SOST 50964 HP:0000889 Abnormality of the clavicle ORPHANET:3416 SOST 50964 HP:0011001 Increased bone mineral density ORPHANET:3416 SOST 50964 HP:0000303 Mandibular prognathia ORPHANET:3416 SOST 50964 HP:0010628 Facial palsy ORPHANET:3416 SOST 50964 HP:0003103 Abnormal cortical bone morphology ORPHANET:3416 SOST 50964 HP:0000407 Sensorineural hearing impairment ORPHANET:3416 LRP5 4041 HP:0004493 Craniofacial hyperostosis ORPHANET:3416 LRP5 4041 HP:0000889 Abnormality of the clavicle ORPHANET:3416 LRP5 4041 HP:0011001 Increased bone mineral density ORPHANET:3416 LRP5 4041 HP:0000303 Mandibular prognathia ORPHANET:3416 LRP5 4041 HP:0010628 Facial palsy ORPHANET:3416 LRP5 4041 HP:0003103 Abnormal cortical bone morphology ORPHANET:3416 LRP5 4041 HP:0000407 Sensorineural hearing impairment OMIM:613243 TNNC1 7134 HP:0001639 Hypertrophic cardiomyopathy OMIM:614034 HMOX1 3162 HP:0002240 Hepatomegaly OMIM:614034 HMOX1 3162 HP:0000093 Proteinuria OMIM:614034 HMOX1 3162 HP:0001510 Growth delay OMIM:614034 HMOX1 3162 HP:0000790 Hematuria OMIM:614034 HMOX1 3162 HP:0000007 Autosomal recessive inheritance OMIM:614034 HMOX1 3162 HP:0001878 Hemolytic anemia OMIM:613206 GJC2 57165 HP:0000514 Slow saccadic eye movements OMIM:613206 GJC2 57165 HP:0001250 Seizures OMIM:613206 GJC2 57165 HP:0002079 Hypoplasia of the corpus callosum OMIM:613206 GJC2 57165 HP:0006986 Upper limb spasticity OMIM:613206 GJC2 57165 HP:0000407 Sensorineural hearing impairment OMIM:613206 GJC2 57165 HP:0002061 Lower limb spasticity OMIM:613206 GJC2 57165 HP:0002936 Distal sensory impairment OMIM:613206 GJC2 57165 HP:0001310 Dysmetria OMIM:613206 GJC2 57165 HP:0002650 Scoliosis OMIM:613206 GJC2 57165 HP:0000007 Autosomal recessive inheritance OMIM:613206 GJC2 57165 HP:0001347 Hyperreflexia OMIM:613206 GJC2 57165 HP:0001761 Pes cavus OMIM:613206 GJC2 57165 HP:0002064 Spastic gait OMIM:613206 GJC2 57165 HP:0002080 Intention tremor OMIM:613206 GJC2 57165 HP:0003487 Babinski sign OMIM:613206 GJC2 57165 HP:0001258 Spastic paraplegia OMIM:613206 GJC2 57165 HP:0002019 Constipation OMIM:613206 GJC2 57165 HP:0000020 Urinary incontinence OMIM:613206 GJC2 57165 HP:0001260 Dysarthria OMIM:615637 KPTN 11133 HP:0000494 Downslanted palpebral fissures OMIM:615637 KPTN 11133 HP:0004209 Clinodactyly of the 5th finger OMIM:615637 KPTN 11133 HP:0000007 Autosomal recessive inheritance OMIM:615637 KPTN 11133 HP:0001250 Seizures OMIM:615637 KPTN 11133 HP:0000739 Anxiety OMIM:615637 KPTN 11133 HP:0000303 Mandibular prognathia OMIM:615637 KPTN 11133 HP:0000733 Stereotypic behavior OMIM:615637 KPTN 11133 HP:0002007 Frontal bossing OMIM:615637 KPTN 11133 HP:0000268 Dolichocephaly OMIM:615637 KPTN 11133 HP:0001263 Global developmental delay OMIM:615637 KPTN 11133 HP:0003577 Congenital onset OMIM:615637 KPTN 11133 HP:0000455 Broad nasal tip OMIM:615637 KPTN 11133 HP:0001249 Intellectual disability OMIM:615637 KPTN 11133 HP:0001252 Muscular hypotonia OMIM:609283 SLC25A4 291 HP:0003581 Adult onset OMIM:609283 SLC25A4 291 HP:0003676 Progressive disorder OMIM:609283 SLC25A4 291 HP:0003688 Decreased activity of cytochrome C oxidase in muscle tissue OMIM:609283 SLC25A4 291 HP:0003324 Generalized muscle weakness OMIM:609283 SLC25A4 291 HP:0003546 Exercise intolerance OMIM:609283 SLC25A4 291 HP:0000006 Autosomal dominant inheritance OMIM:609283 SLC25A4 291 HP:0003200 Ragged-red muscle fibers OMIM:609283 SLC25A4 291 HP:0000407 Sensorineural hearing impairment OMIM:609283 SLC25A4 291 HP:0000590 Progressive external ophthalmoplegia OMIM:609283 SLC25A4 291 HP:0003548 Subsarcolemmal accumulations of abnormally shaped mitochondria OMIM:609283 SLC25A4 291 HP:0003689 Multiple mitochondrial DNA deletions OMIM:609283 SLC25A4 291 HP:0003458 EMG: myopathic abnormalities OMIM:609283 SLC25A4 291 HP:0010628 Facial palsy OMIM:609283 SLC25A4 291 HP:0000508 Ptosis OMIM:614559 ACO2 50 HP:0002079 Hypoplasia of the corpus callosum OMIM:614559 ACO2 50 HP:0011344 Severe global developmental delay OMIM:614559 ACO2 50 HP:0001250 Seizures OMIM:614559 ACO2 50 HP:0000407 Sensorineural hearing impairment OMIM:614559 ACO2 50 HP:0002120 Cerebral cortical atrophy OMIM:614559 ACO2 50 HP:0001272 Cerebellar atrophy OMIM:614559 ACO2 50 HP:0001252 Muscular hypotonia OMIM:614559 ACO2 50 HP:0001508 Failure to thrive OMIM:614559 ACO2 50 HP:0000648 Optic atrophy OMIM:614559 ACO2 50 HP:0000556 Retinal dystrophy OMIM:614559 ACO2 50 HP:0001265 Hyporeflexia OMIM:614559 ACO2 50 HP:0002305 Athetosis OMIM:614559 ACO2 50 HP:0001251 Ataxia OMIM:614559 ACO2 50 HP:0000007 Autosomal recessive inheritance OMIM:614559 ACO2 50 HP:0007108 Demyelinating peripheral neuropathy OMIM:614559 ACO2 50 HP:0000639 Nystagmus OMIM:614559 ACO2 50 HP:0001284 Areflexia OMIM:614559 ACO2 50 HP:0000486 Strabismus OMIM:614559 ACO2 50 HP:0010864 Intellectual disability, severe OMIM:614559 ACO2 50 HP:0000253 Progressive microcephaly OMIM:151430 BCL2 596 HP:0001428 Somatic mutation OMIM:151430 BCL2 596 HP:0012191 B-cell lymphoma OMIM:245570 GRIN2A 2903 HP:0012557 EEG with centrotemporal focal spike waves OMIM:245570 GRIN2A 2903 HP:0002357 Dysphasia OMIM:245570 GRIN2A 2903 HP:0007018 Attention deficit hyperactivity disorder OMIM:245570 GRIN2A 2903 HP:0003828 Variable expressivity OMIM:245570 GRIN2A 2903 HP:0001249 Intellectual disability OMIM:245570 GRIN2A 2903 HP:0010524 Agnosia OMIM:245570 GRIN2A 2903 HP:0002381 Aphasia OMIM:245570 GRIN2A 2903 HP:0001263 Global developmental delay OMIM:245570 GRIN2A 2903 HP:0001250 Seizures OMIM:245570 GRIN2A 2903 HP:0000006 Autosomal dominant inheritance OMIM:245570 GRIN2A 2903 HP:0011098 Speech apraxia OMIM:245570 GRIN2A 2903 HP:0003829 Incomplete penetrance OMIM:245570 GRIN2A 2903 HP:0000750 Delayed speech and language development OMIM:608612 ZMPSTE24 10269 HP:0003635 Loss of subcutaneous adipose tissue in limbs OMIM:608612 ZMPSTE24 10269 HP:0000520 Proptosis OMIM:608612 ZMPSTE24 10269 HP:0000160 Narrow mouth OMIM:608612 ZMPSTE24 10269 HP:0002797 Osteolysis OMIM:608612 ZMPSTE24 10269 HP:0000464 Abnormality of the neck OMIM:608612 ZMPSTE24 10269 HP:0002299 Brittle hair OMIM:608612 ZMPSTE24 10269 HP:0003196 Short nose OMIM:608612 ZMPSTE24 10269 HP:0009882 Short distal phalanx of finger OMIM:608612 ZMPSTE24 10269 HP:0007400 Irregular hyperpigmentation OMIM:608612 ZMPSTE24 10269 HP:0000007 Autosomal recessive inheritance OMIM:608612 ZMPSTE24 10269 HP:0000418 Narrow nasal ridge OMIM:608612 ZMPSTE24 10269 HP:0008070 Sparse hair OMIM:608612 ZMPSTE24 10269 HP:0009839 Osteolytic defects of the distal phalanges of the hand OMIM:608612 ZMPSTE24 10269 HP:0000444 Convex nasal ridge OMIM:608612 ZMPSTE24 10269 HP:0000292 Loss of facial adipose tissue OMIM:608612 ZMPSTE24 10269 HP:0000894 Short clavicles OMIM:608612 ZMPSTE24 10269 HP:0000987 Atypical scarring of skin OMIM:608612 ZMPSTE24 10269 HP:0001597 Abnormality of the nail OMIM:608612 ZMPSTE24 10269 HP:0005995 Decreased adipose tissue around neck OMIM:608612 ZMPSTE24 10269 HP:0009124 Abnormality of adipose tissue OMIM:608612 ZMPSTE24 10269 HP:0001070 Mottled pigmentation OMIM:608612 ZMPSTE24 10269 HP:0003119 Abnormality of lipid metabolism OMIM:608612 ZMPSTE24 10269 HP:0011362 Abnormal hair quantity OMIM:608612 ZMPSTE24 10269 HP:0001870 Acroosteolysis of distal phalanges (feet) OMIM:608612 ZMPSTE24 10269 HP:0004322 Short stature OMIM:608612 ZMPSTE24 10269 HP:0000347 Micrognathia OMIM:608612 ZMPSTE24 10269 HP:0003077 Hyperlipidemia OMIM:608612 ZMPSTE24 10269 HP:0000320 Bird-like facies OMIM:608612 ZMPSTE24 10269 HP:0000833 Glucose intolerance OMIM:608612 ZMPSTE24 10269 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:608612 ZMPSTE24 10269 HP:0000164 Abnormality of the teeth OMIM:608612 ZMPSTE24 10269 HP:0009803 Short phalanx of finger OMIM:608612 ZMPSTE24 10269 HP:0000963 Thin skin OMIM:608612 ZMPSTE24 10269 HP:0000934 Chondrocalcinosis OMIM:608612 ZMPSTE24 10269 HP:0003074 Hyperglycemia OMIM:608612 ZMPSTE24 10269 HP:0000855 Insulin resistance OMIM:608612 ZMPSTE24 10269 HP:0006480 Premature loss of teeth OMIM:608612 ZMPSTE24 10269 HP:0007495 Prematurely aged appearance OMIM:608612 ZMPSTE24 10269 HP:0009064 Generalized lipodystrophy OMIM:608612 ZMPSTE24 10269 HP:0000270 Delayed cranial suture closure OMIM:608612 ZMPSTE24 10269 HP:0000842 Hyperinsulinemia OMIM:608612 ZMPSTE24 10269 HP:0009002 Loss of truncal subcutaneous adipose tissue OMIM:608612 ZMPSTE24 10269 HP:0000078 Abnormality of the genital system OMIM:608612 ZMPSTE24 10269 HP:0001371 Flexion contracture OMIM:608612 ZMPSTE24 10269 HP:0000831 Insulin-resistant diabetes mellitus OMIM:608612 ZMPSTE24 10269 HP:0000678 Dental crowding OMIM:608612 ZMPSTE24 10269 HP:0000905 Progressive clavicular acroosteolysis OMIM:608612 ZMPSTE24 10269 HP:0000889 Abnormality of the clavicle OMIM:608612 ZMPSTE24 10269 HP:0004334 Dermal atrophy OMIM:610102 C7 730 HP:0000007 Autosomal recessive inheritance OMIM:610102 C7 730 HP:0004431 Complement deficiency OMIM:610102 C7 730 HP:0005381 Recurrent meningococcal disease OMIM:610951 MFSD8 256471 HP:0001263 Global developmental delay OMIM:610951 MFSD8 256471 HP:0002059 Cerebral atrophy OMIM:610951 MFSD8 256471 HP:0001272 Cerebellar atrophy OMIM:610951 MFSD8 256471 HP:0002180 Neurodegeneration OMIM:610951 MFSD8 256471 HP:0003678 Rapidly progressive OMIM:610951 MFSD8 256471 HP:0000007 Autosomal recessive inheritance OMIM:610951 MFSD8 256471 HP:0001251 Ataxia OMIM:610951 MFSD8 256471 HP:0002360 Sleep disturbance OMIM:610951 MFSD8 256471 HP:0000618 Blindness OMIM:610951 MFSD8 256471 HP:0001268 Mental deterioration OMIM:610951 MFSD8 256471 HP:0000488 Retinopathy OMIM:610951 MFSD8 256471 HP:0000648 Optic atrophy OMIM:610951 MFSD8 256471 HP:0002353 EEG abnormality OMIM:610951 MFSD8 256471 HP:0000572 Visual loss OMIM:610951 MFSD8 256471 HP:0000750 Delayed speech and language development OMIM:610951 MFSD8 256471 HP:0003621 Juvenile onset OMIM:610951 MFSD8 256471 HP:0002123 Generalized myoclonic seizures OMIM:616200 SPRTN 83932 HP:0009125 Lipodystrophy OMIM:616200 SPRTN 83932 HP:0004322 Short stature OMIM:616200 SPRTN 83932 HP:0000414 Bulbous nose OMIM:616200 SPRTN 83932 HP:0005659 Thoracic kyphoscoliosis OMIM:616200 SPRTN 83932 HP:0002007 Frontal bossing OMIM:616200 SPRTN 83932 HP:0007787 Posterior subcapsular cataract OMIM:616200 SPRTN 83932 HP:0000426 Prominent nasal bridge OMIM:616200 SPRTN 83932 HP:0200021 Down-sloping shoulders OMIM:616200 SPRTN 83932 HP:0004325 Decreased body weight OMIM:616200 SPRTN 83932 HP:0000325 Triangular face OMIM:616200 SPRTN 83932 HP:0003202 Skeletal muscle atrophy OMIM:616200 SPRTN 83932 HP:0000767 Pectus excavatum OMIM:616200 SPRTN 83932 HP:0001402 Hepatocellular carcinoma OMIM:616200 SPRTN 83932 HP:0002750 Delayed skeletal maturation OMIM:616200 SPRTN 83932 HP:0001763 Pes planus OMIM:616200 SPRTN 83932 HP:0002987 Elbow flexion contracture OMIM:616200 SPRTN 83932 HP:0000347 Micrognathia OMIM:613235 F13B 2165 HP:0011884 Abnormal umbilical stump bleeding OMIM:613235 F13B 2165 HP:0008357 Reduced factor XIII activity OMIM:613235 F13B 2165 HP:0003577 Congenital onset OMIM:613235 F13B 2165 HP:0004846 Prolonged bleeding after surgery OMIM:613235 F13B 2165 HP:0000007 Autosomal recessive inheritance OMIM:613235 F13B 2165 HP:0000978 Bruising susceptibility OMIM:182250 IFIH1 64135 HP:0000319 Smooth philtrum OMIM:182250 IFIH1 64135 HP:0100550 Tendon rupture OMIM:182250 IFIH1 64135 HP:0004322 Short stature OMIM:182250 IFIH1 64135 HP:0002673 Coxa valga OMIM:182250 IFIH1 64135 HP:0001806 Onycholysis OMIM:182250 IFIH1 64135 HP:0000545 Myopia OMIM:182250 IFIH1 64135 HP:0006386 Hypoplastic distal radial epiphyses OMIM:182250 IFIH1 64135 HP:0000670 Carious teeth OMIM:182250 IFIH1 64135 HP:0001762 Talipes equinovarus OMIM:182250 IFIH1 64135 HP:0001252 Muscular hypotonia OMIM:182250 IFIH1 64135 HP:0006353 Hypoplasia of the tooth germ OMIM:182250 IFIH1 64135 HP:0006232 Expanded metacarpals with widened medullary cavities OMIM:182250 IFIH1 64135 HP:0030043 Hip Subluxation OMIM:182250 IFIH1 64135 HP:0001324 Muscle weakness OMIM:182250 IFIH1 64135 HP:0001640 Cardiomegaly OMIM:182250 IFIH1 64135 HP:0006112 Expanded phalanges with widened medullary cavities OMIM:182250 IFIH1 64135 HP:0000006 Autosomal dominant inheritance OMIM:182250 IFIH1 64135 HP:0000501 Glaucoma OMIM:182250 IFIH1 64135 HP:0000939 Osteoporosis OMIM:182250 IFIH1 64135 HP:0000706 Unerupted tooth OMIM:182250 IFIH1 64135 HP:0000327 Hypoplasia of the maxilla OMIM:182250 IFIH1 64135 HP:0001682 Subaortic stenosis OMIM:182250 IFIH1 64135 HP:0002205 Recurrent respiratory infections OMIM:182250 IFIH1 64135 HP:0001761 Pes cavus OMIM:182250 IFIH1 64135 HP:0002827 Hip dislocation OMIM:182250 IFIH1 64135 HP:0009890 High anterior hairline OMIM:182250 IFIH1 64135 HP:0008102 Expanded metatarsals with widened medullary cavities OMIM:182250 IFIH1 64135 HP:0004325 Decreased body weight OMIM:182250 IFIH1 64135 HP:0004380 Aortic valve calcification OMIM:182250 IFIH1 64135 HP:0000337 Broad forehead OMIM:182250 IFIH1 64135 HP:0009771 Osteolytic defects of the phalanges of the hand OMIM:182250 IFIH1 64135 HP:0004382 Mitral valve calcification OMIM:182250 IFIH1 64135 HP:0000992 Cutaneous photosensitivity OMIM:182250 IFIH1 64135 HP:0002515 Waddling gait OMIM:182250 IFIH1 64135 HP:0005303 Aortic arch calcification OMIM:182250 IFIH1 64135 HP:0003182 Shallow acetabular fossae OMIM:182250 IFIH1 64135 HP:0001635 Congestive heart failure OMIM:182250 IFIH1 64135 HP:0001650 Aortic valve stenosis OMIM:182250 IFIH1 64135 HP:0002857 Genu valgum OMIM:605676 DSP 1832 HP:0001639 Hypertrophic cardiomyopathy OMIM:605676 DSP 1832 HP:0001635 Congestive heart failure OMIM:605676 DSP 1832 HP:0002224 Woolly hair OMIM:605676 DSP 1832 HP:0000982 Palmoplantar keratoderma OMIM:605676 DSP 1832 HP:0008066 Abnormal blistering of the skin OMIM:263520 NEK1 4750 HP:0005817 Postaxial polysyndactyly of foot OMIM:263520 NEK1 4750 HP:0006644 Thoracic dysplasia OMIM:263520 NEK1 4750 HP:0000161 Median cleft lip OMIM:263520 NEK1 4750 HP:0000113 Polycystic kidney dysplasia OMIM:263520 NEK1 4750 HP:0000175 Cleft palate OMIM:263520 NEK1 4750 HP:0000773 Short ribs OMIM:263520 NEK1 4750 HP:0000171 Microglossia OMIM:263520 NEK1 4750 HP:0001162 Postaxial hand polydactyly OMIM:263520 NEK1 4750 HP:0000007 Autosomal recessive inheritance OMIM:263520 NEK1 4750 HP:0011802 Hamartoma of tongue OMIM:263520 NEK1 4750 HP:0000888 Horizontal ribs OMIM:263520 NEK1 4750 HP:0005873 Polysyndactyly of hallux OMIM:263520 NEK1 4750 HP:0001395 Hepatic fibrosis OMIM:263520 NEK1 4750 HP:0002566 Intestinal malrotation OMIM:263520 NEK1 4750 HP:0005349 Hypoplasia of the epiglottis OMIM:263520 NEK1 4750 HP:0000248 Brachycephaly OMIM:263520 NEK1 4750 HP:0010984 Digenic inheritance OMIM:263520 NEK1 4750 HP:0001631 Defect in the atrial septum OMIM:263520 NEK1 4750 HP:0001302 Pachygyria OMIM:263520 NEK1 4750 HP:0000774 Narrow chest OMIM:263520 NEK1 4750 HP:0006956 Dilation of lateral ventricles OMIM:263520 NEK1 4750 HP:0001789 Hydrops fetalis OMIM:263520 NEK1 4750 HP:0001629 Ventricular septal defect OMIM:263520 NEK1 4750 HP:0005766 Disproportionate shortening of the tibia OMIM:263520 NEK1 4750 HP:0000895 Lateral clavicle hook OMIM:263520 NEK1 4750 HP:0000062 Ambiguous genitalia OMIM:263520 NEK1 4750 HP:0000054 Micropenis OMIM:263520 NEK1 4750 HP:0002089 Pulmonary hypoplasia OMIM:263520 NEK1 4750 HP:0100732 Pancreatic fibrosis OMIM:263520 NEK1 4750 HP:0001177 Preaxial hand polydactyly OMIM:263520 NEK1 4750 HP:0001320 Cerebellar vermis hypoplasia OMIM:613925 HEPACAM 220296 HP:0000007 Autosomal recessive inheritance OMIM:613925 HEPACAM 220296 HP:0000256 Macrocephaly OMIM:613925 HEPACAM 220296 HP:0001257 Spasticity OMIM:613925 HEPACAM 220296 HP:0003677 Slow progression OMIM:613925 HEPACAM 220296 HP:0001249 Intellectual disability OMIM:613925 HEPACAM 220296 HP:0001270 Motor delay OMIM:613925 HEPACAM 220296 HP:0001355 Megalencephaly OMIM:613925 HEPACAM 220296 HP:0001250 Seizures OMIM:613925 HEPACAM 220296 HP:0002059 Cerebral atrophy OMIM:613925 HEPACAM 220296 HP:0007341 Diffuse swelling of cerebral white matter OMIM:613925 HEPACAM 220296 HP:0001272 Cerebellar atrophy OMIM:613925 HEPACAM 220296 HP:0002344 Progressive neurologic deterioration OMIM:613925 HEPACAM 220296 HP:0001251 Ataxia OMIM:613925 HEPACAM 220296 HP:0001260 Dysarthria OMIM:613925 HEPACAM 220296 HP:0002119 Ventriculomegaly OMIM:229200 ZNF469 84627 HP:0001634 Mitral valve prolapse OMIM:229200 ZNF469 84627 HP:0000365 Hearing impairment OMIM:229200 ZNF469 84627 HP:0000545 Myopia OMIM:229200 ZNF469 84627 HP:0000286 Epicanthus OMIM:229200 ZNF469 84627 HP:0000592 Blue sclerae OMIM:229200 ZNF469 84627 HP:0000007 Autosomal recessive inheritance OMIM:229200 ZNF469 84627 HP:0000256 Macrocephaly OMIM:229200 ZNF469 84627 HP:0003302 Spondylolisthesis OMIM:229200 ZNF469 84627 HP:0001388 Joint laxity OMIM:229200 ZNF469 84627 HP:0002297 Red hair OMIM:229200 ZNF469 84627 HP:0007517 Palmoplantar cutis laxa OMIM:229200 ZNF469 84627 HP:0000987 Atypical scarring of skin OMIM:229200 ZNF469 84627 HP:0002650 Scoliosis OMIM:229200 ZNF469 84627 HP:0001519 Disproportionate tall stature OMIM:229200 ZNF469 84627 HP:0001374 Congenital hip dislocation OMIM:229200 ZNF469 84627 HP:0000703 Dentinogenesis imperfecta OMIM:229200 ZNF469 84627 HP:0000563 Keratoconus OMIM:229200 ZNF469 84627 HP:0001119 Keratoglobus OMIM:229200 ZNF469 84627 HP:0000993 Molluscoid pseudotumors OMIM:229200 ZNF469 84627 HP:0100689 Decreased corneal thickness OMIM:229200 ZNF469 84627 HP:0000572 Visual loss OMIM:607432 PAFAH1B1 5048 HP:0005484 Postnatal microcephaly OMIM:607432 PAFAH1B1 5048 HP:0001285 Spastic tetraparesis OMIM:607432 PAFAH1B1 5048 HP:0002365 Hypoplasia of the brainstem OMIM:607432 PAFAH1B1 5048 HP:0002282 Heterotopia OMIM:607432 PAFAH1B1 5048 HP:0001249 Intellectual disability OMIM:607432 PAFAH1B1 5048 HP:0003745 Sporadic OMIM:607432 PAFAH1B1 5048 HP:0002119 Ventriculomegaly OMIM:607432 PAFAH1B1 5048 HP:0001302 Pachygyria OMIM:607432 PAFAH1B1 5048 HP:0001263 Global developmental delay OMIM:607432 PAFAH1B1 5048 HP:0001321 Cerebellar hypoplasia OMIM:607432 PAFAH1B1 5048 HP:0001250 Seizures OMIM:607432 PAFAH1B1 5048 HP:0002500 Abnormality of the cerebral white matter OMIM:607432 PAFAH1B1 5048 HP:0008936 Muscular hypotonia of the trunk OMIM:607432 PAFAH1B1 5048 HP:0001339 Lissencephaly OMIM:607432 PAFAH1B1 5048 HP:0003828 Variable expressivity OMIM:609060 GFM1 85476 HP:0000817 Poor eye contact OMIM:609060 GFM1 85476 HP:0002240 Hepatomegaly OMIM:609060 GFM1 85476 HP:0001396 Cholestasis OMIM:609060 GFM1 85476 HP:0002490 Increased CSF lactate OMIM:609060 GFM1 85476 HP:0002151 Increased serum lactate OMIM:609060 GFM1 85476 HP:0004448 Fulminant hepatic failure OMIM:609060 GFM1 85476 HP:0002375 Hypokinesia OMIM:609060 GFM1 85476 HP:0008936 Muscular hypotonia of the trunk OMIM:609060 GFM1 85476 HP:0011968 Feeding difficulties OMIM:609060 GFM1 85476 HP:0006799 Basal ganglia cysts OMIM:609060 GFM1 85476 HP:0001257 Spasticity OMIM:609060 GFM1 85476 HP:0001270 Motor delay OMIM:609060 GFM1 85476 HP:0001347 Hyperreflexia OMIM:609060 GFM1 85476 HP:0002079 Hypoplasia of the corpus callosum OMIM:609060 GFM1 85476 HP:0012448 Delayed myelination OMIM:609060 GFM1 85476 HP:0001942 Metabolic acidosis OMIM:609060 GFM1 85476 HP:0003577 Congenital onset OMIM:609060 GFM1 85476 HP:0002283 Global brain atrophy OMIM:609060 GFM1 85476 HP:0000007 Autosomal recessive inheritance OMIM:609060 GFM1 85476 HP:0001511 Intrauterine growth retardation OMIM:609060 GFM1 85476 HP:0000252 Microcephaly OMIM:609060 GFM1 85476 HP:0000639 Nystagmus OMIM:609060 GFM1 85476 HP:0001250 Seizures OMIM:278720 XPC 7508 HP:0003079 Defective DNA repair after ultraviolet radiation damage OMIM:278720 XPC 7508 HP:0000491 Keratitis OMIM:278720 XPC 7508 HP:0000613 Photophobia OMIM:278720 XPC 7508 HP:0006739 Squamous cell carcinoma of the skin OMIM:278720 XPC 7508 HP:0004334 Dermal atrophy OMIM:278720 XPC 7508 HP:0000656 Ectropion OMIM:278720 XPC 7508 HP:0012056 Cutaneous melanoma OMIM:278720 XPC 7508 HP:0000007 Autosomal recessive inheritance OMIM:278720 XPC 7508 HP:0001009 Telangiectasia OMIM:278720 XPC 7508 HP:0002671 Basal cell carcinoma OMIM:278720 XPC 7508 HP:0001010 Hypopigmentation of the skin OMIM:278720 XPC 7508 HP:0000621 Entropion OMIM:278720 XPC 7508 HP:0000992 Cutaneous photosensitivity OMIM:278720 XPC 7508 HP:0011463 Childhood onset OMIM:278720 XPC 7508 HP:0001029 Poikiloderma OMIM:278720 XPC 7508 HP:0000509 Conjunctivitis OMIM:609620 KCNH2 3757 HP:0001962 Palpitations OMIM:609620 KCNH2 3757 HP:0000006 Autosomal dominant inheritance OMIM:609620 KCNH2 3757 HP:0012232 Shortened QT interval OMIM:609620 KCNH2 3757 HP:0001279 Syncope OMIM:609620 KCNH2 3757 HP:0001695 Cardiac arrest OMIM:613426 MYH7 4625 HP:0005180 Tricuspid regurgitation OMIM:613426 MYH7 4625 HP:0004308 Ventricular arrhythmia OMIM:613426 MYH7 4625 HP:0000006 Autosomal dominant inheritance OMIM:613426 MYH7 4625 HP:0001647 Bicuspid aortic valve OMIM:613426 MYH7 4625 HP:0001635 Congestive heart failure OMIM:613426 MYH7 4625 HP:0001644 Dilated cardiomyopathy OMIM:613426 MYH7 4625 HP:0004971 Pulmonary artery hypoplasia OMIM:613426 MYH7 4625 HP:0001680 Coarctation of aorta OMIM:613805 CDC6 990 HP:0000007 Autosomal recessive inheritance OMIM:613805 CDC6 990 HP:0006443 Patellar aplasia OMIM:613805 CDC6 990 HP:0001270 Motor delay OMIM:613805 CDC6 990 HP:0001508 Failure to thrive OMIM:613805 CDC6 990 HP:0000369 Low-set ears OMIM:613805 CDC6 990 HP:0003561 Birth length less than 3rd percentile OMIM:613805 CDC6 990 HP:0000385 Small earlobe OMIM:613805 CDC6 990 HP:0011968 Feeding difficulties OMIM:613805 CDC6 990 HP:0008551 Microtia OMIM:613805 CDC6 990 HP:0000252 Microcephaly OMIM:613805 CDC6 990 HP:0000028 Cryptorchidism OMIM:613805 CDC6 990 HP:0000343 Long philtrum OMIM:613805 CDC6 990 HP:0003090 Hypoplasia of the capital femoral epiphysis OMIM:613805 CDC6 990 HP:0003042 Elbow dislocation OMIM:613805 CDC6 990 HP:0000325 Triangular face OMIM:613805 CDC6 990 HP:0002750 Delayed skeletal maturation OMIM:613805 CDC6 990 HP:0000327 Hypoplasia of the maxilla OMIM:613805 CDC6 990 HP:0003100 Slender long bone OMIM:613805 CDC6 990 HP:0005487 Prominent metopic ridge OMIM:613805 CDC6 990 HP:0001263 Global developmental delay OMIM:613805 CDC6 990 HP:0006361 Irregular femoral epiphysis OMIM:613805 CDC6 990 HP:0001511 Intrauterine growth retardation OMIM:613805 CDC6 990 HP:0000054 Micropenis OMIM:613805 CDC6 990 HP:0002020 Gastroesophageal reflux OMIM:613805 CDC6 990 HP:0000347 Micrognathia OMIM:616217 DCDC2 51473 HP:0001395 Hepatic fibrosis OMIM:616217 DCDC2 51473 HP:0001408 Bile duct proliferation OMIM:616217 DCDC2 51473 HP:0001396 Cholestasis OMIM:616217 DCDC2 51473 HP:0001744 Splenomegaly OMIM:616217 DCDC2 51473 HP:0002240 Hepatomegaly OMIM:615508 DSG1 1828 HP:0003228 Hypernatremia OMIM:615508 DSG1 1828 HP:0000007 Autosomal recessive inheritance OMIM:615508 DSG1 1828 HP:0100792 Acantholysis OMIM:615508 DSG1 1828 HP:0001510 Growth delay OMIM:615508 DSG1 1828 HP:0001629 Ventricular septal defect OMIM:615508 DSG1 1828 HP:0001581 Recurrent skin infections OMIM:615508 DSG1 1828 HP:0002205 Recurrent respiratory infections OMIM:615508 DSG1 1828 HP:0001019 Erythroderma OMIM:615508 DSG1 1828 HP:0001006 Hypotrichosis OMIM:610842 GGCX 2677 HP:0001892 Abnormal bleeding OMIM:610842 GGCX 2677 HP:0011858 Reduced factor IX activity OMIM:610842 GGCX 2677 HP:0008321 Reduced factor X activity OMIM:610842 GGCX 2677 HP:0002621 Atherosclerosis OMIM:610842 GGCX 2677 HP:0000007 Autosomal recessive inheritance OMIM:610842 GGCX 2677 HP:0001102 Angioid streaks of the retina OMIM:610842 GGCX 2677 HP:0012201 Reduced prothrombin activity OMIM:610842 GGCX 2677 HP:0000973 Cutis laxa OMIM:610842 GGCX 2677 HP:0008169 Reduced factor VII activity OMIM:610842 GGCX 2677 HP:0000421 Epistaxis ORPHANET:280785 KIT 3815 HP:0001645 Sudden cardiac death ORPHANET:280785 KIT 3815 HP:0100495 Mastocytosis ORPHANET:280785 KIT 3815 HP:0001000 Abnormality of skin pigmentation ORPHANET:280785 KIT 3815 HP:0001025 Urticaria ORPHANET:280785 KIT 3815 HP:0008066 Abnormal blistering of the skin ORPHANET:280785 KIT 3815 HP:0000989 Pruritus OMIM:601042 SLC2A1 6513 HP:0000651 Diplopia OMIM:601042 SLC2A1 6513 HP:0001260 Dysarthria OMIM:601042 SLC2A1 6513 HP:0001266 Choreoathetosis OMIM:601042 SLC2A1 6513 HP:0002131 Episodic ataxia OMIM:601042 SLC2A1 6513 HP:0100660 Dyskinesia OMIM:601042 SLC2A1 6513 HP:0003401 Paresthesia OMIM:601042 SLC2A1 6513 HP:0001332 Dystonia OMIM:601042 SLC2A1 6513 HP:0000006 Autosomal dominant inheritance OMIM:601042 SLC2A1 6513 HP:0001347 Hyperreflexia OMIM:601042 SLC2A1 6513 HP:0002076 Migraine OMIM:601042 SLC2A1 6513 HP:0007256 Abnormal pyramidal signs OMIM:601042 SLC2A1 6513 HP:0001258 Spastic paraplegia OMIM:601042 SLC2A1 6513 HP:0002315 Headache OMIM:601042 SLC2A1 6513 HP:0002062 Morphological abnormality of the pyramidal tract OMIM:601042 SLC2A1 6513 HP:0100543 Cognitive impairment ORPHANET:36412 DNASE1L3 1776 HP:0100533 Inflammatory abnormality of the eye ORPHANET:36412 DNASE1L3 1776 HP:0001654 Abnormality of the heart valves ORPHANET:36412 DNASE1L3 1776 HP:0002093 Respiratory insufficiency ORPHANET:36412 DNASE1L3 1776 HP:0002097 Emphysema ORPHANET:36412 DNASE1L3 1776 HP:0001697 Abnormality of the pericardium ORPHANET:36412 DNASE1L3 1776 HP:0100326 Immunologic hypersensitivity ORPHANET:36412 DNASE1L3 1776 HP:0002716 Lymphadenopathy ORPHANET:36412 DNASE1L3 1776 HP:0003326 Myalgia ORPHANET:36412 DNASE1L3 1776 HP:0001250 Seizures ORPHANET:36412 DNASE1L3 1776 HP:0100820 Glomerulopathy ORPHANET:36412 DNASE1L3 1776 HP:0002103 Abnormality of the pleura ORPHANET:36412 DNASE1L3 1776 HP:0002017 Nausea and vomiting ORPHANET:36412 DNASE1L3 1776 HP:0001315 Reduced tendon reflexes ORPHANET:36412 DNASE1L3 1776 HP:0000790 Hematuria ORPHANET:36412 DNASE1L3 1776 HP:0006510 Chronic obstructive pulmonary disease ORPHANET:36412 DNASE1L3 1776 HP:0003401 Paresthesia ORPHANET:36412 DNASE1L3 1776 HP:0001541 Ascites ORPHANET:36412 DNASE1L3 1776 HP:0001063 Acrocyanosis ORPHANET:36412 DNASE1L3 1776 HP:0002633 Vasculitis ORPHANET:36412 DNASE1L3 1776 HP:0000407 Sensorineural hearing impairment ORPHANET:36412 DNASE1L3 1776 HP:0006824 Cranial nerve paralysis ORPHANET:36412 DNASE1L3 1776 HP:0002240 Hepatomegaly ORPHANET:36412 DNASE1L3 1776 HP:0004374 Hemiplegia/hemiparesis ORPHANET:36412 DNASE1L3 1776 HP:0000093 Proteinuria ORPHANET:36412 DNASE1L3 1776 HP:0100273 Neoplasm of the colon ORPHANET:36412 DNASE1L3 1776 HP:0100021 Cerebral palsy ORPHANET:36412 DNASE1L3 1776 HP:0000083 Renal insufficiency ORPHANET:36412 DNASE1L3 1776 HP:0002091 Restrictive lung disease ORPHANET:36412 DNASE1L3 1776 HP:0002960 Autoimmunity ORPHANET:36412 DNASE1L3 1776 HP:0007400 Irregular hyperpigmentation ORPHANET:36412 DNASE1L3 1776 HP:0002027 Abdominal pain ORPHANET:36412 DNASE1L3 1776 HP:0001744 Splenomegaly ORPHANET:36412 DNASE1L3 1776 HP:0001369 Arthritis ORPHANET:36412 DNASE1L3 1776 HP:0002024 Malabsorption ORPHANET:36412 DNASE1L3 1776 HP:0005339 Abnormality of complement system ORPHANET:36412 DNASE1L3 1776 HP:0000989 Pruritus ORPHANET:36412 DNASE1L3 1776 HP:0000988 Skin rash ORPHANET:36412 DNASE1L3 1776 HP:0001287 Meningitis ORPHANET:36412 DNASE1L3 1776 HP:0002665 Lymphoma ORPHANET:36412 DNASE1L3 1776 HP:0002105 Hemoptysis OMIM:600121 AGPS 8540 HP:0005792 Short humerus OMIM:600121 AGPS 8540 HP:0008905 Rhizomelia OMIM:600121 AGPS 8540 HP:0000007 Autosomal recessive inheritance OMIM:600121 AGPS 8540 HP:0003097 Short femur OMIM:600121 AGPS 8540 HP:0001508 Failure to thrive OMIM:600121 AGPS 8540 HP:0010655 Epiphyseal stippling OMIM:217400 SLC4A11 83959 HP:0007759 Opacification of the corneal stroma OMIM:217400 SLC4A11 83959 HP:0001131 Corneal dystrophy OMIM:217400 SLC4A11 83959 HP:0000007 Autosomal recessive inheritance OMIM:217400 SLC4A11 83959 HP:0000505 Visual impairment OMIM:217400 SLC4A11 83959 HP:0000365 Hearing impairment OMIM:217400 SLC4A11 83959 HP:0000407 Sensorineural hearing impairment OMIM:217400 SLC4A11 83959 HP:0000639 Nystagmus OMIM:603358 BCS1L 617 HP:0010719 Abnormality of hair texture OMIM:603358 BCS1L 617 HP:0003355 Aminoaciduria OMIM:603358 BCS1L 617 HP:0004925 Chronic lactic acidosis OMIM:603358 BCS1L 617 HP:0003281 Increased serum ferritin OMIM:603358 BCS1L 617 HP:0001394 Cirrhosis OMIM:603358 BCS1L 617 HP:0011031 Abnormality of iron homeostasis OMIM:603358 BCS1L 617 HP:0001397 Hepatic steatosis OMIM:603358 BCS1L 617 HP:0003452 Increased serum iron OMIM:603358 BCS1L 617 HP:0001396 Cholestasis OMIM:603358 BCS1L 617 HP:0000091 Abnormality of the renal tubule OMIM:603358 BCS1L 617 HP:0003542 Increased serum pyruvate OMIM:603358 BCS1L 617 HP:0000365 Hearing impairment OMIM:603358 BCS1L 617 HP:0001511 Intrauterine growth retardation OMIM:603358 BCS1L 617 HP:0001319 Neonatal hypotonia OMIM:227260 TWIST2 117581 HP:0100589 Urogenital fistula OMIM:227260 TWIST2 117581 HP:0000957 Cafe-au-lait spot OMIM:227260 TWIST2 117581 HP:0000632 Lacrimation abnormality OMIM:227260 TWIST2 117581 HP:0000007 Autosomal recessive inheritance OMIM:227260 TWIST2 117581 HP:0002023 Anal atresia OMIM:227260 TWIST2 117581 HP:0005280 Depressed nasal bridge OMIM:227260 TWIST2 117581 HP:0002553 Highly arched eyebrow OMIM:227260 TWIST2 117581 HP:0002714 Downturned corners of mouth OMIM:227260 TWIST2 117581 HP:0000457 Depressed nasal ridge OMIM:227260 TWIST2 117581 HP:0010751 Chin dimple OMIM:227260 TWIST2 117581 HP:0011362 Abnormal hair quantity OMIM:227260 TWIST2 117581 HP:0010935 Abnormality of the upper urinary tract OMIM:227260 TWIST2 117581 HP:0000494 Downslanted palpebral fissures OMIM:227260 TWIST2 117581 HP:0000968 Ectodermal dysplasia OMIM:227260 TWIST2 117581 HP:0000629 Periorbital fullness OMIM:227260 TWIST2 117581 HP:0008509 Aged leonine appearance OMIM:227260 TWIST2 117581 HP:0000286 Epicanthus OMIM:227260 TWIST2 117581 HP:0005338 Sparse lateral eyebrow OMIM:227260 TWIST2 117581 HP:0000322 Short philtrum OMIM:227260 TWIST2 117581 HP:0000561 Absent eyelashes OMIM:227260 TWIST2 117581 HP:0007495 Prematurely aged appearance OMIM:227260 TWIST2 117581 HP:0000499 Abnormality of the eyelashes OMIM:227260 TWIST2 117581 HP:0000414 Bulbous nose OMIM:227260 TWIST2 117581 HP:0001053 Hypopigmented skin patches OMIM:227260 TWIST2 117581 HP:0000486 Strabismus OMIM:227260 TWIST2 117581 HP:0008496 Multiple rows of eyelashes OMIM:227260 TWIST2 117581 HP:0010767 Sacrococcygeal pilonidal abnormality OMIM:227260 TWIST2 117581 HP:0008065 Aplasia/Hypoplasia of the skin OMIM:602014 TRPM6 140803 HP:0003593 Infantile onset OMIM:602014 TRPM6 140803 HP:0002917 Hypomagnesemia OMIM:602014 TRPM6 140803 HP:0002901 Hypocalcemia OMIM:602014 TRPM6 140803 HP:0001281 Tetany OMIM:602014 TRPM6 140803 HP:0001250 Seizures OMIM:602014 TRPM6 140803 HP:0000007 Autosomal recessive inheritance OMIM:269400 PXDN 7837 HP:0000482 Microcornea OMIM:269400 PXDN 7837 HP:0000518 Cataract OMIM:269400 PXDN 7837 HP:0000557 Buphthalmos OMIM:269400 PXDN 7837 HP:0007700 Anterior segment dysgenesis OMIM:269400 PXDN 7837 HP:0000647 Sclerocornea OMIM:269400 PXDN 7837 HP:0000007 Autosomal recessive inheritance OMIM:269400 PXDN 7837 HP:0000356 Abnormality of the outer ear OMIM:269400 PXDN 7837 HP:0007906 Increased intraocular pressure OMIM:269400 PXDN 7837 HP:0000568 Microphthalmos OMIM:154020 FXYD2 486 HP:0000006 Autosomal dominant inheritance OMIM:154020 FXYD2 486 HP:0001250 Seizures OMIM:154020 FXYD2 486 HP:0005567 Renal magnesium wasting OMIM:154020 FXYD2 486 HP:0002917 Hypomagnesemia OMIM:400044 SRY 6736 HP:0012245 Sex reversal OMIM:400044 SRY 6736 HP:0000098 Tall stature OMIM:400044 SRY 6736 HP:0000133 Gonadal dysgenesis OMIM:400044 SRY 6736 HP:0000037 Male pseudohermaphroditism OMIM:400044 SRY 6736 HP:0000055 Abnormality of female external genitalia OMIM:400044 SRY 6736 HP:0000786 Primary amenorrhea OMIM:400044 SRY 6736 HP:0008187 Absence of secondary sex characteristics OMIM:615559 PRKCD 5580 HP:0002240 Hepatomegaly OMIM:615559 PRKCD 5580 HP:0002829 Arthralgia OMIM:615559 PRKCD 5580 HP:0002716 Lymphadenopathy OMIM:615559 PRKCD 5580 HP:0001744 Splenomegaly OMIM:615559 PRKCD 5580 HP:0002719 Recurrent infections OMIM:615559 PRKCD 5580 HP:0012578 Membranous nephropathy OMIM:615559 PRKCD 5580 HP:0003593 Infantile onset OMIM:615559 PRKCD 5580 HP:0000007 Autosomal recessive inheritance OMIM:615559 PRKCD 5580 HP:0000100 Nephrotic syndrome OMIM:615559 PRKCD 5580 HP:0001973 Autoimmune thrombocytopenia OMIM:615009 PACS1 55690 HP:0000028 Cryptorchidism OMIM:615009 PACS1 55690 HP:0000664 Synophrys OMIM:615009 PACS1 55690 HP:0000400 Macrotia OMIM:615009 PACS1 55690 HP:0002553 Highly arched eyebrow OMIM:615009 PACS1 55690 HP:0000369 Low-set ears OMIM:615009 PACS1 55690 HP:0002389 Cavum septum pellucidum OMIM:615009 PACS1 55690 HP:0001763 Pes planus OMIM:615009 PACS1 55690 HP:0001250 Seizures OMIM:615009 PACS1 55690 HP:0001263 Global developmental delay OMIM:615009 PACS1 55690 HP:0000527 Long eyelashes OMIM:615009 PACS1 55690 HP:0011098 Speech apraxia OMIM:615009 PACS1 55690 HP:0000494 Downslanted palpebral fissures OMIM:615009 PACS1 55690 HP:0006610 Wide intermamillary distance OMIM:615009 PACS1 55690 HP:0000414 Bulbous nose OMIM:615009 PACS1 55690 HP:0002580 Volvulus OMIM:615009 PACS1 55690 HP:0000006 Autosomal dominant inheritance OMIM:615009 PACS1 55690 HP:0001249 Intellectual disability OMIM:615009 PACS1 55690 HP:0001195 Single umbilical artery OMIM:615009 PACS1 55690 HP:0000316 Hypertelorism OMIM:615009 PACS1 55690 HP:0000319 Smooth philtrum OMIM:615009 PACS1 55690 HP:0000294 Low anterior hairline OMIM:613707 BRAF 673 HP:0100543 Cognitive impairment OMIM:613707 BRAF 673 HP:0000358 Posteriorly rotated ears OMIM:613707 BRAF 673 HP:0001319 Neonatal hypotonia OMIM:613707 BRAF 673 HP:0000914 Shield chest OMIM:613707 BRAF 673 HP:0007565 Multiple cafe-au-lait spots OMIM:613707 BRAF 673 HP:0000465 Webbed neck OMIM:613707 BRAF 673 HP:0001054 Numerous nevi OMIM:613707 BRAF 673 HP:0000962 Hyperkeratosis OMIM:613707 BRAF 673 HP:0001249 Intellectual disability OMIM:613707 BRAF 673 HP:0000006 Autosomal dominant inheritance OMIM:613707 BRAF 673 HP:0001003 Multiple lentigines OMIM:613707 BRAF 673 HP:0001646 Abnormality of the aortic valve OMIM:613707 BRAF 673 HP:0001510 Growth delay OMIM:613707 BRAF 673 HP:0002212 Curly hair OMIM:613707 BRAF 673 HP:0001636 Tetralogy of Fallot OMIM:613707 BRAF 673 HP:0001633 Abnormality of the mitral valve OMIM:613707 BRAF 673 HP:0000316 Hypertelorism OMIM:613707 BRAF 673 HP:0000407 Sensorineural hearing impairment OMIM:613707 BRAF 673 HP:0005280 Depressed nasal bridge OMIM:613707 BRAF 673 HP:0000369 Low-set ears OMIM:613707 BRAF 673 HP:0004322 Short stature OMIM:613707 BRAF 673 HP:0002750 Delayed skeletal maturation OMIM:613707 BRAF 673 HP:0001250 Seizures OMIM:613707 BRAF 673 HP:0000470 Short neck OMIM:301830 UBA1 7317 HP:0100543 Cognitive impairment OMIM:301830 UBA1 7317 HP:0002808 Kyphosis OMIM:301830 UBA1 7317 HP:0000508 Ptosis OMIM:301830 UBA1 7317 HP:0001250 Seizures OMIM:301830 UBA1 7317 HP:0000400 Macrotia OMIM:301830 UBA1 7317 HP:0001376 Limitation of joint mobility OMIM:301830 UBA1 7317 HP:0000054 Micropenis OMIM:301830 UBA1 7317 HP:0001288 Gait disturbance OMIM:301830 UBA1 7317 HP:0000028 Cryptorchidism OMIM:301830 UBA1 7317 HP:0001231 Abnormality of the fingernails OMIM:301830 UBA1 7317 HP:0000343 Long philtrum OMIM:301830 UBA1 7317 HP:0001308 Tongue fasciculations OMIM:301830 UBA1 7317 HP:0002804 Arthrogryposis multiplex congenita OMIM:301830 UBA1 7317 HP:0001284 Areflexia OMIM:301830 UBA1 7317 HP:0000954 Single transverse palmar crease OMIM:301830 UBA1 7317 HP:0003196 Short nose OMIM:301830 UBA1 7317 HP:0100490 Camptodactyly of finger OMIM:301830 UBA1 7317 HP:0002650 Scoliosis OMIM:301830 UBA1 7317 HP:0000347 Micrognathia OMIM:301830 UBA1 7317 HP:0008736 Hypoplasia of penis OMIM:301830 UBA1 7317 HP:0001939 Abnormality of metabolism/homeostasis OMIM:301830 UBA1 7317 HP:0010628 Facial palsy OMIM:301830 UBA1 7317 HP:0007269 Spinal muscular atrophy OMIM:301830 UBA1 7317 HP:0009623 Proximal placement of thumb OMIM:301830 UBA1 7317 HP:0002828 Multiple joint contractures OMIM:301830 UBA1 7317 HP:0000470 Short neck OMIM:301830 UBA1 7317 HP:0002398 Degeneration of anterior horn cells OMIM:301830 UBA1 7317 HP:0000047 Hypospadias OMIM:301830 UBA1 7317 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:301830 UBA1 7317 HP:0000268 Dolichocephaly OMIM:301830 UBA1 7317 HP:0000023 Inguinal hernia OMIM:301830 UBA1 7317 HP:0010767 Sacrococcygeal pilonidal abnormality OMIM:301830 UBA1 7317 HP:0001252 Muscular hypotonia OMIM:301830 UBA1 7317 HP:0006829 Severe muscular hypotonia OMIM:301830 UBA1 7317 HP:0000486 Strabismus OMIM:301830 UBA1 7317 HP:0001181 Adducted thumb OMIM:301830 UBA1 7317 HP:0004404 Abnormality of the nipple OMIM:301830 UBA1 7317 HP:0001419 X-linked recessive inheritance OMIM:301830 UBA1 7317 HP:0003198 Myopathy OMIM:301830 UBA1 7317 HP:0000474 Thickened nuchal skin fold OMIM:301830 UBA1 7317 HP:0002058 Myopathic facies OMIM:301830 UBA1 7317 HP:0001558 Decreased fetal movement OMIM:301830 UBA1 7317 HP:0000194 Open mouth OMIM:301830 UBA1 7317 HP:0000774 Narrow chest OMIM:105550 C9ORF72 203228 HP:0000716 Depression OMIM:105550 C9ORF72 203228 HP:0001260 Dysarthria OMIM:105550 C9ORF72 203228 HP:0003202 Skeletal muscle atrophy OMIM:105550 C9ORF72 203228 HP:0003678 Rapidly progressive OMIM:105550 C9ORF72 203228 HP:0007354 Amyotrophic lateral sclerosis OMIM:105550 C9ORF72 203228 HP:0002273 Tetraparesis OMIM:105550 C9ORF72 203228 HP:0002366 Abnormal lower motor neuron morphology OMIM:105550 C9ORF72 203228 HP:0001300 Parkinsonism OMIM:105550 C9ORF72 203228 HP:0002059 Cerebral atrophy OMIM:105550 C9ORF72 203228 HP:0000741 Apathy OMIM:105550 C9ORF72 203228 HP:0000006 Autosomal dominant inheritance OMIM:105550 C9ORF72 203228 HP:0002145 Frontotemporal dementia OMIM:105550 C9ORF72 203228 HP:0007308 Extrapyramidal dyskinesia OMIM:105550 C9ORF72 203228 HP:0002385 Paraparesis OMIM:105550 C9ORF72 203228 HP:0000738 Hallucinations OMIM:105550 C9ORF72 203228 HP:0002171 Gliosis OMIM:105550 C9ORF72 203228 HP:0002442 Dyscalculia OMIM:105550 C9ORF72 203228 HP:0002186 Apraxia OMIM:105550 C9ORF72 203228 HP:0003581 Adult onset OMIM:105550 C9ORF72 203228 HP:0002529 Neuronal loss in central nervous system OMIM:105550 C9ORF72 203228 HP:0000605 Supranuclear gaze palsy OMIM:105550 C9ORF72 203228 HP:0001324 Muscle weakness OMIM:105550 C9ORF72 203228 HP:0000746 Delusions OMIM:616155 IGHMBP2 3508 HP:0009027 Foot dorsiflexor weakness OMIM:616155 IGHMBP2 3508 HP:0002650 Scoliosis OMIM:616155 IGHMBP2 3508 HP:0003376 Steppage gait OMIM:616155 IGHMBP2 3508 HP:0001284 Areflexia OMIM:616155 IGHMBP2 3508 HP:0001265 Hyporeflexia OMIM:616155 IGHMBP2 3508 HP:0002936 Distal sensory impairment OMIM:616155 IGHMBP2 3508 HP:0040078 Axonal degeneration OMIM:616155 IGHMBP2 3508 HP:0001762 Talipes equinovarus OMIM:615482 DYX1C1 161582 HP:0000789 Infertility OMIM:615482 DYX1C1 161582 HP:0002110 Bronchiectasis OMIM:615482 DYX1C1 161582 HP:0003593 Infantile onset OMIM:615482 DYX1C1 161582 HP:0006510 Chronic obstructive pulmonary disease OMIM:615482 DYX1C1 161582 HP:0002205 Recurrent respiratory infections OMIM:615482 DYX1C1 161582 HP:0000007 Autosomal recessive inheritance OMIM:615482 DYX1C1 161582 HP:0012265 Ciliary dyskinesia OMIM:615482 DYX1C1 161582 HP:0001696 Situs inversus totalis OMIM:615482 DYX1C1 161582 HP:0000246 Sinusitis OMIM:615482 DYX1C1 161582 HP:0012263 Immotile cilia OMIM:232700 PYGL 5836 HP:0006568 Increased hepatic glycogen content OMIM:232700 PYGL 5836 HP:0000007 Autosomal recessive inheritance OMIM:232700 PYGL 5836 HP:0001943 Hypoglycemia OMIM:232700 PYGL 5836 HP:0008897 Postnatal growth retardation OMIM:232700 PYGL 5836 HP:0004322 Short stature OMIM:232700 PYGL 5836 HP:0002240 Hepatomegaly OMIM:154780 COL11A1 1301 HP:0006456 Irregular proximal tibial epiphyses OMIM:154780 COL11A1 1301 HP:0009924 Aplasia/Hypoplasia involving the nose OMIM:154780 COL11A1 1301 HP:0002758 Osteoarthritis OMIM:154780 COL11A1 1301 HP:0100250 Meningeal calcification OMIM:154780 COL11A1 1301 HP:0000655 Vitreoretinal degeneration OMIM:154780 COL11A1 1301 HP:0000541 Retinal detachment OMIM:154780 COL11A1 1301 HP:0012283 Small distal femoral epiphysis OMIM:154780 COL11A1 1301 HP:0006407 Irregular distal femoral epiphysis OMIM:154780 COL11A1 1301 HP:0004322 Short stature OMIM:154780 COL11A1 1301 HP:0000519 Congenital cataract OMIM:154780 COL11A1 1301 HP:0002007 Frontal bossing OMIM:154780 COL11A1 1301 HP:0000501 Glaucoma OMIM:154780 COL11A1 1301 HP:0000966 Hypohidrosis OMIM:154780 COL11A1 1301 HP:0006095 Wide tufts of distal phalanges OMIM:154780 COL11A1 1301 HP:0005462 Calcification of falx cerebri OMIM:154780 COL11A1 1301 HP:0012284 Small proximal tibial epiphyses OMIM:154780 COL11A1 1301 HP:0000407 Sensorineural hearing impairment OMIM:154780 COL11A1 1301 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:154780 COL11A1 1301 HP:0000347 Micrognathia OMIM:154780 COL11A1 1301 HP:0010669 Cheekbone underdevelopment OMIM:154780 COL11A1 1301 HP:0005280 Depressed nasal bridge OMIM:154780 COL11A1 1301 HP:0000520 Proptosis OMIM:154780 COL11A1 1301 HP:0012019 Lens luxation OMIM:154780 COL11A1 1301 HP:0000946 Hypoplastic ilia OMIM:154780 COL11A1 1301 HP:0000343 Long philtrum OMIM:154780 COL11A1 1301 HP:0002986 Radial bowing OMIM:154780 COL11A1 1301 HP:0000369 Low-set ears OMIM:154780 COL11A1 1301 HP:0000286 Epicanthus OMIM:154780 COL11A1 1301 HP:0000272 Malar flattening OMIM:154780 COL11A1 1301 HP:0003196 Short nose OMIM:154780 COL11A1 1301 HP:0000316 Hypertelorism OMIM:154780 COL11A1 1301 HP:0000175 Cleft palate OMIM:154780 COL11A1 1301 HP:0000639 Nystagmus OMIM:154780 COL11A1 1301 HP:0011362 Abnormal hair quantity OMIM:154780 COL11A1 1301 HP:0002673 Coxa valga OMIM:154780 COL11A1 1301 HP:0002857 Genu valgum OMIM:154780 COL11A1 1301 HP:0004327 Abnormality of the vitreous humor OMIM:154780 COL11A1 1301 HP:0000926 Platyspondyly OMIM:154780 COL11A1 1301 HP:0000006 Autosomal dominant inheritance OMIM:154780 COL11A1 1301 HP:0002684 Thickened calvaria OMIM:154780 COL11A1 1301 HP:0000463 Anteverted nares OMIM:154780 COL11A1 1301 HP:0000675 Macrodontia of permanent maxillary central incisor OMIM:154780 COL11A1 1301 HP:0003031 Ulnar bowing OMIM:154780 COL11A1 1301 HP:0000201 Pierre-Robin sequence OMIM:154780 COL11A1 1301 HP:0004493 Craniofacial hyperostosis OMIM:154780 COL11A1 1301 HP:0002829 Arthralgia OMIM:154780 COL11A1 1301 HP:0000215 Thick upper lip vermilion OMIM:154780 COL11A1 1301 HP:0000179 Thick lower lip vermilion OMIM:154780 COL11A1 1301 HP:0000545 Myopia OMIM:154780 COL11A1 1301 HP:0002688 Absent frontal sinuses OMIM:154780 COL11A1 1301 HP:0000505 Visual impairment OMIM:154780 COL11A1 1301 HP:0000565 Esotropia OMIM:601321 NF1 4763 HP:0001263 Global developmental delay OMIM:601321 NF1 4763 HP:0000368 Low-set, posteriorly rotated ears OMIM:601321 NF1 4763 HP:0000286 Epicanthus OMIM:601321 NF1 4763 HP:0000750 Delayed speech and language development OMIM:601321 NF1 4763 HP:0004322 Short stature OMIM:601321 NF1 4763 HP:0000465 Webbed neck OMIM:601321 NF1 4763 HP:0001067 Neurofibromas OMIM:601321 NF1 4763 HP:0000358 Posteriorly rotated ears OMIM:601321 NF1 4763 HP:0000470 Short neck OMIM:601321 NF1 4763 HP:0000028 Cryptorchidism OMIM:601321 NF1 4763 HP:0011800 Midface retrusion OMIM:601321 NF1 4763 HP:0000508 Ptosis OMIM:601321 NF1 4763 HP:0000917 Superior pectus carinatum OMIM:601321 NF1 4763 HP:0002967 Cubitus valgus OMIM:601321 NF1 4763 HP:0001324 Muscle weakness OMIM:601321 NF1 4763 HP:0100543 Cognitive impairment OMIM:601321 NF1 4763 HP:0002162 Low posterior hairline OMIM:601321 NF1 4763 HP:0000256 Macrocephaly OMIM:601321 NF1 4763 HP:0001642 Pulmonic stenosis OMIM:601321 NF1 4763 HP:0000494 Downslanted palpebral fissures OMIM:601321 NF1 4763 HP:0009734 Optic glioma OMIM:601321 NF1 4763 HP:0000272 Malar flattening OMIM:601321 NF1 4763 HP:0030052 Inguinal freckling OMIM:601321 NF1 4763 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature OMIM:601321 NF1 4763 HP:0000957 Cafe-au-lait spot OMIM:601321 NF1 4763 HP:0001928 Abnormality of coagulation OMIM:601321 NF1 4763 HP:0009737 Lisch nodules OMIM:601321 NF1 4763 HP:0001639 Hypertrophic cardiomyopathy OMIM:601321 NF1 4763 HP:0001328 Specific learning disability OMIM:601321 NF1 4763 HP:0000997 Axillary freckling OMIM:601321 NF1 4763 HP:0000369 Low-set ears OMIM:601321 NF1 4763 HP:0000765 Abnormality of the thorax OMIM:601321 NF1 4763 HP:0000316 Hypertelorism OMIM:601321 NF1 4763 HP:0000915 Pectus excavatum of inferior sternum OMIM:601321 NF1 4763 HP:0001641 Abnormality of the pulmonary valve OMIM:601321 NF1 4763 HP:0000006 Autosomal dominant inheritance OMIM:601321 NF1 4763 HP:0008872 Feeding difficulties in infancy OMIM:601321 NF1 4763 HP:0001684 Secundum atrial septal defect OMIM:601321 NF1 4763 HP:0100763 Abnormality of the lymphatic system OMIM:601321 NF1 4763 HP:0011039 Abnormality of the helix OMIM:601321 NF1 4763 HP:0005272 Prominent nasolabial fold OMIM:601321 NF1 4763 HP:0002650 Scoliosis OMIM:188740 LMBR1 64327 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:188740 LMBR1 64327 HP:0006487 Bowing of the long bones OMIM:188740 LMBR1 64327 HP:0006101 Finger syndactyly OMIM:188740 LMBR1 64327 HP:0004209 Clinodactyly of the 5th finger OMIM:188740 LMBR1 64327 HP:0006443 Patellar aplasia OMIM:188740 LMBR1 64327 HP:0000006 Autosomal dominant inheritance OMIM:188740 LMBR1 64327 HP:0001177 Preaxial hand polydactyly OMIM:188740 LMBR1 64327 HP:0001376 Limitation of joint mobility OMIM:188740 LMBR1 64327 HP:0002991 Abnormality of the fibula OMIM:188740 LMBR1 64327 HP:0004322 Short stature OMIM:188740 LMBR1 64327 HP:0009556 Absent tibia OMIM:188740 LMBR1 64327 HP:0002992 Abnormality of the tibia OMIM:188740 LMBR1 64327 HP:0000366 Abnormality of the nose OMIM:188740 LMBR1 64327 HP:0001162 Postaxial hand polydactyly OMIM:188740 LMBR1 64327 HP:0002564 Malformation of the heart and great vessels OMIM:188740 LMBR1 64327 HP:0100490 Camptodactyly of finger OMIM:188740 LMBR1 64327 HP:0005048 Synostosis of carpal bones OMIM:188740 LMBR1 64327 HP:0001161 Hand polydactyly OMIM:188740 LMBR1 64327 HP:0001199 Triphalangeal thumb OMIM:600886 FTL 2512 HP:0008024 Congenital nuclear cataract OMIM:600886 FTL 2512 HP:0010693 Pulverulent Cataract OMIM:600886 FTL 2512 HP:0001939 Abnormality of metabolism/homeostasis OMIM:600886 FTL 2512 HP:0000006 Autosomal dominant inheritance OMIM:600886 FTL 2512 HP:0000518 Cataract OMIM:600886 FTL 2512 HP:0003281 Increased serum ferritin OMIM:300818 PIGA 5277 HP:0004818 Paroxysmal nocturnal hemoglobinuria OMIM:300818 PIGA 5277 HP:0001428 Somatic mutation OMIM:614307 AMACR 23600 HP:0000505 Visual impairment OMIM:614307 AMACR 23600 HP:0007141 Sensorimotor neuropathy OMIM:614307 AMACR 23600 HP:0003812 Phenotypic variability OMIM:614307 AMACR 23600 HP:0002076 Migraine OMIM:614307 AMACR 23600 HP:0001251 Ataxia OMIM:614307 AMACR 23600 HP:0002133 Status epilepticus OMIM:614307 AMACR 23600 HP:0000007 Autosomal recessive inheritance OMIM:614307 AMACR 23600 HP:0001257 Spasticity OMIM:614307 AMACR 23600 HP:0001337 Tremor OMIM:614307 AMACR 23600 HP:0000580 Pigmentary retinopathy OMIM:160565 STIM1 6786 HP:0003581 Adult onset OMIM:160565 STIM1 6786 HP:0000006 Autosomal dominant inheritance OMIM:160565 STIM1 6786 HP:0002522 Areflexia of lower limbs OMIM:160565 STIM1 6786 HP:0003198 Myopathy OMIM:160565 STIM1 6786 HP:0000544 External ophthalmoplegia OMIM:160565 STIM1 6786 HP:0002600 Hyporeflexia of lower limbs OMIM:160565 STIM1 6786 HP:0009046 Difficulty running OMIM:160565 STIM1 6786 HP:0003388 Easy fatigability OMIM:160565 STIM1 6786 HP:0003557 Increased variability in muscle fiber diameter OMIM:160565 STIM1 6786 HP:0000662 Night blindness OMIM:160565 STIM1 6786 HP:0009005 Weakness of the intrinsic hand muscles OMIM:160565 STIM1 6786 HP:0003677 Slow progression OMIM:160565 STIM1 6786 HP:0002359 Frequent falls OMIM:160565 STIM1 6786 HP:0001371 Flexion contracture OMIM:160565 STIM1 6786 HP:0003554 Type 2 muscle fiber atrophy OMIM:160565 STIM1 6786 HP:0003738 Exercise-induced myalgia OMIM:160565 STIM1 6786 HP:0000615 Abnormality of the pupil OMIM:160565 STIM1 6786 HP:0002093 Respiratory insufficiency OMIM:160565 STIM1 6786 HP:0003552 Muscle stiffness OMIM:160565 STIM1 6786 HP:0003236 Elevated serum creatine phosphokinase OMIM:160565 STIM1 6786 HP:0007126 Proximal amyotrophy OMIM:160565 STIM1 6786 HP:0003701 Proximal muscle weakness OMIM:160565 STIM1 6786 HP:0003394 Muscle cramps OMIM:615598 SERPINB7 8710 HP:0000982 Palmoplantar keratoderma OMIM:615598 SERPINB7 8710 HP:0007410 Palmoplantar hyperhidrosis OMIM:615598 SERPINB7 8710 HP:0200042 Skin ulcer OMIM:615598 SERPINB7 8710 HP:0000975 Hyperhidrosis OMIM:615598 SERPINB7 8710 HP:0000007 Autosomal recessive inheritance OMIM:216400 ERCC8 1161 HP:0002135 Basal ganglia calcification OMIM:216400 ERCC8 1161 HP:0011359 Dry hair OMIM:216400 ERCC8 1161 HP:0000540 Hypermetropia OMIM:216400 ERCC8 1161 HP:0000518 Cataract OMIM:216400 ERCC8 1161 HP:0000762 Decreased nerve conduction velocity OMIM:216400 ERCC8 1161 HP:0001511 Intrauterine growth retardation OMIM:216400 ERCC8 1161 HP:0002059 Cerebral atrophy OMIM:216400 ERCC8 1161 HP:0000987 Atypical scarring of skin OMIM:216400 ERCC8 1161 HP:0001000 Abnormality of skin pigmentation OMIM:216400 ERCC8 1161 HP:0000135 Hypogonadism OMIM:216400 ERCC8 1161 HP:0003357 Thymic hormone decreased OMIM:216400 ERCC8 1161 HP:0002808 Kyphosis OMIM:216400 ERCC8 1161 HP:0002545 Patchy demyelination of subcortical white matter OMIM:216400 ERCC8 1161 HP:0007814 Salt and pepper retinopathy OMIM:216400 ERCC8 1161 HP:0000407 Sensorineural hearing impairment OMIM:216400 ERCC8 1161 HP:0010234 Ivory epiphyses of the phalanges of the hand OMIM:216400 ERCC8 1161 HP:0002866 Hypoplastic iliac wing OMIM:216400 ERCC8 1161 HP:0000093 Proteinuria OMIM:216400 ERCC8 1161 HP:0011675 Arrhythmia OMIM:216400 ERCC8 1161 HP:0002343 Normal pressure hydrocephalus OMIM:216400 ERCC8 1161 HP:0006958 Abnormal auditory evoked potentials OMIM:216400 ERCC8 1161 HP:0008839 Hypoplastic pelvis OMIM:216400 ERCC8 1161 HP:0005328 Progeroid facial appearance OMIM:216400 ERCC8 1161 HP:0001251 Ataxia OMIM:216400 ERCC8 1161 HP:0000685 Hypoplasia of teeth OMIM:216400 ERCC8 1161 HP:0000083 Renal insufficiency OMIM:216400 ERCC8 1161 HP:0001250 Seizures OMIM:216400 ERCC8 1161 HP:0001744 Splenomegaly OMIM:216400 ERCC8 1161 HP:0007759 Opacification of the corneal stroma OMIM:216400 ERCC8 1161 HP:0000992 Cutaneous photosensitivity OMIM:216400 ERCC8 1161 HP:0000252 Microcephaly OMIM:216400 ERCC8 1161 HP:0002240 Hepatomegaly OMIM:216400 ERCC8 1161 HP:0001260 Dysarthria OMIM:216400 ERCC8 1161 HP:0003278 Square pelvis bone OMIM:216400 ERCC8 1161 HP:0000417 Slender nose OMIM:216400 ERCC8 1161 HP:0003469 Peripheral dysmyelination OMIM:216400 ERCC8 1161 HP:0001271 Polyneuropathy OMIM:216400 ERCC8 1161 HP:0008070 Sparse hair OMIM:216400 ERCC8 1161 HP:0000958 Dry skin OMIM:216400 ERCC8 1161 HP:0003224 Increased cellular sensitivity to UV light OMIM:216400 ERCC8 1161 HP:0001249 Intellectual disability OMIM:216400 ERCC8 1161 HP:0000649 Abnormality of vision evoked potentials OMIM:216400 ERCC8 1161 HP:0000028 Cryptorchidism OMIM:216400 ERCC8 1161 HP:0001288 Gait disturbance OMIM:216400 ERCC8 1161 HP:0003758 Reduced subcutaneous adipose tissue OMIM:216400 ERCC8 1161 HP:0000726 Dementia OMIM:216400 ERCC8 1161 HP:0000303 Mandibular prognathia OMIM:216400 ERCC8 1161 HP:0000648 Optic atrophy OMIM:216400 ERCC8 1161 HP:0000822 Hypertension OMIM:216400 ERCC8 1161 HP:0002684 Thickened calvaria OMIM:216400 ERCC8 1161 HP:0000580 Pigmentary retinopathy OMIM:216400 ERCC8 1161 HP:0000858 Menstrual irregularities OMIM:216400 ERCC8 1161 HP:0000670 Carious teeth OMIM:216400 ERCC8 1161 HP:0000377 Abnormality of the pinna OMIM:216400 ERCC8 1161 HP:0000486 Strabismus OMIM:216400 ERCC8 1161 HP:0000054 Micropenis OMIM:216400 ERCC8 1161 HP:0000639 Nystagmus OMIM:216400 ERCC8 1161 HP:0000007 Autosomal recessive inheritance OMIM:216400 ERCC8 1161 HP:0000292 Loss of facial adipose tissue OMIM:216400 ERCC8 1161 HP:0000970 Anhidrosis OMIM:216400 ERCC8 1161 HP:0001324 Muscle weakness OMIM:216400 ERCC8 1161 HP:0001337 Tremor OMIM:216400 ERCC8 1161 HP:0008850 Severe postnatal growth retardation OMIM:216400 ERCC8 1161 HP:0000633 Decreased lacrimation OMIM:216400 ERCC8 1161 HP:0000680 Delayed eruption of primary teeth OMIM:216400 ERCC8 1161 HP:0000689 Dental malocclusion OMIM:216400 ERCC8 1161 HP:0001376 Limitation of joint mobility OMIM:113500 TRPV4 59341 HP:0000006 Autosomal dominant inheritance OMIM:113500 TRPV4 59341 HP:0030084 Clinodactyly OMIM:113500 TRPV4 59341 HP:0002176 Spinal cord compression OMIM:113500 TRPV4 59341 HP:0002808 Kyphosis OMIM:113500 TRPV4 59341 HP:0000540 Hypermetropia OMIM:113500 TRPV4 59341 HP:0009466 Radial deviation of finger OMIM:113500 TRPV4 59341 HP:0008922 Childhood-onset short-trunk short stature OMIM:113500 TRPV4 59341 HP:0003411 Proximal femoral metaphyseal irregularity OMIM:113500 TRPV4 59341 HP:0004322 Short stature OMIM:113500 TRPV4 59341 HP:0000470 Short neck OMIM:113500 TRPV4 59341 HP:0000944 Abnormality of the metaphyses OMIM:113500 TRPV4 59341 HP:0002650 Scoliosis OMIM:113500 TRPV4 59341 HP:0000926 Platyspondyly OMIM:113500 TRPV4 59341 HP:0001552 Barrel-shaped chest OMIM:113500 TRPV4 59341 HP:0010306 Short thorax OMIM:113500 TRPV4 59341 HP:0100864 Short femoral neck OMIM:602400 ST14 6768 HP:0000613 Photophobia OMIM:602400 ST14 6768 HP:0000535 Sparse eyebrow OMIM:602400 ST14 6768 HP:0007431 Congenital ichthyosiform erythroderma OMIM:602400 ST14 6768 HP:0011362 Abnormal hair quantity OMIM:602400 ST14 6768 HP:0008070 Sparse hair OMIM:602400 ST14 6768 HP:0007957 Corneal opacity OMIM:602400 ST14 6768 HP:0003777 Pili torti OMIM:602400 ST14 6768 HP:0000007 Autosomal recessive inheritance OMIM:602400 ST14 6768 HP:0002212 Curly hair OMIM:602400 ST14 6768 HP:0000966 Hypohidrosis OMIM:602400 ST14 6768 HP:0008064 Ichthyosis OMIM:602400 ST14 6768 HP:0000498 Blepharitis OMIM:154400 SF3B4 10262 HP:0002126 Polymicrogyria OMIM:154400 SF3B4 10262 HP:0008678 Renal hypoplasia/aplasia OMIM:154400 SF3B4 10262 HP:0000347 Micrognathia OMIM:154400 SF3B4 10262 HP:0000154 Wide mouth OMIM:154400 SF3B4 10262 HP:0000238 Hydrocephalus OMIM:154400 SF3B4 10262 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:154400 SF3B4 10262 HP:0006657 Hypoplasia of first ribs OMIM:154400 SF3B4 10262 HP:0001636 Tetralogy of Fallot OMIM:154400 SF3B4 10262 HP:0001770 Toe syndactyly OMIM:154400 SF3B4 10262 HP:0011800 Midface retrusion OMIM:154400 SF3B4 10262 HP:0010669 Cheekbone underdevelopment OMIM:154400 SF3B4 10262 HP:0000220 Velopharyngeal insufficiency OMIM:154400 SF3B4 10262 HP:0000175 Cleft palate OMIM:154400 SF3B4 10262 HP:0009777 Absent thumb OMIM:154400 SF3B4 10262 HP:0000413 Atresia of the external auditory canal OMIM:154400 SF3B4 10262 HP:0000358 Posteriorly rotated ears OMIM:154400 SF3B4 10262 HP:0000211 Trismus OMIM:154400 SF3B4 10262 HP:0007776 Sparse lower eyelashes OMIM:154400 SF3B4 10262 HP:0002167 Neurological speech impairment OMIM:154400 SF3B4 10262 HP:0001622 Premature birth OMIM:154400 SF3B4 10262 HP:0000252 Microcephaly OMIM:154400 SF3B4 10262 HP:0000494 Downslanted palpebral fissures OMIM:154400 SF3B4 10262 HP:0000652 Lower eyelid coloboma OMIM:154400 SF3B4 10262 HP:0001199 Triphalangeal thumb OMIM:154400 SF3B4 10262 HP:0001376 Limitation of joint mobility OMIM:154400 SF3B4 10262 HP:0001822 Hallux valgus OMIM:154400 SF3B4 10262 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:154400 SF3B4 10262 HP:0002974 Radioulnar synostosis OMIM:154400 SF3B4 10262 HP:0000813 Bicornuate uterus OMIM:154400 SF3B4 10262 HP:0000426 Prominent nasal bridge OMIM:154400 SF3B4 10262 HP:0000384 Preauricular skin tag OMIM:154400 SF3B4 10262 HP:0000278 Retrognathia OMIM:154400 SF3B4 10262 HP:0000508 Ptosis OMIM:154400 SF3B4 10262 HP:0008749 Laryngeal hypoplasia OMIM:154400 SF3B4 10262 HP:0004322 Short stature OMIM:154400 SF3B4 10262 HP:0000272 Malar flattening OMIM:154400 SF3B4 10262 HP:0009466 Radial deviation of finger OMIM:154400 SF3B4 10262 HP:0000122 Unilateral renal agenesis OMIM:154400 SF3B4 10262 HP:0009829 Phocomelia OMIM:154400 SF3B4 10262 HP:0002827 Hip dislocation OMIM:154400 SF3B4 10262 HP:0000204 Cleft upper lip OMIM:154400 SF3B4 10262 HP:0000750 Delayed speech and language development OMIM:154400 SF3B4 10262 HP:0005349 Hypoplasia of the epiglottis OMIM:154400 SF3B4 10262 HP:0002410 Aqueductal stenosis OMIM:154400 SF3B4 10262 HP:0000006 Autosomal dominant inheritance OMIM:154400 SF3B4 10262 HP:0030084 Clinodactyly OMIM:154400 SF3B4 10262 HP:0002650 Scoliosis OMIM:154400 SF3B4 10262 HP:0001643 Patent ductus arteriosus OMIM:154400 SF3B4 10262 HP:0000368 Low-set, posteriorly rotated ears OMIM:154400 SF3B4 10262 HP:0001629 Ventricular septal defect OMIM:154400 SF3B4 10262 HP:0002652 Skeletal dysplasia OMIM:154400 SF3B4 10262 HP:0000369 Low-set ears OMIM:154400 SF3B4 10262 HP:0010055 Broad hallux OMIM:154400 SF3B4 10262 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:154400 SF3B4 10262 HP:0001762 Talipes equinovarus OMIM:154400 SF3B4 10262 HP:0001377 Limited elbow extension OMIM:154400 SF3B4 10262 HP:0000625 Cleft eyelid OMIM:154400 SF3B4 10262 HP:0003974 Absent radius OMIM:154400 SF3B4 10262 HP:0003319 Abnormality of the cervical spine OMIM:154400 SF3B4 10262 HP:0002564 Malformation of the heart and great vessels OMIM:154400 SF3B4 10262 HP:0000365 Hearing impairment OMIM:154400 SF3B4 10262 HP:0100335 Non-midline cleft lip OMIM:154400 SF3B4 10262 HP:0002984 Hypoplasia of the radius OMIM:154400 SF3B4 10262 HP:0001025 Urticaria OMIM:154400 SF3B4 10262 HP:0001849 Oligodactyly (feet) OMIM:154400 SF3B4 10262 HP:0000405 Conductive hearing impairment OMIM:154400 SF3B4 10262 HP:0005105 Abnormal nasal morphology OMIM:154400 SF3B4 10262 HP:0002093 Respiratory insufficiency OMIM:154400 SF3B4 10262 HP:0002251 Aganglionic megacolon OMIM:154400 SF3B4 10262 HP:0001543 Gastroschisis OMIM:154400 SF3B4 10262 HP:0001831 Short toe OMIM:154400 SF3B4 10262 HP:0001845 Overlapping toe OMIM:208000 ENPP1 5167 HP:0001635 Congestive heart failure OMIM:208000 ENPP1 5167 HP:0000007 Autosomal recessive inheritance OMIM:208000 ENPP1 5167 HP:0004912 Hypophosphatemic rickets OMIM:208000 ENPP1 5167 HP:0001717 Coronary artery calcification OMIM:208000 ENPP1 5167 HP:0004322 Short stature OMIM:208000 ENPP1 5167 HP:0000822 Hypertension OMIM:208000 ENPP1 5167 HP:0001658 Myocardial infarction OMIM:208000 ENPP1 5167 HP:0004940 Generalized arterial calcification OMIM:300860 UBE2A 7319 HP:0008404 Nail dystrophy OMIM:300860 UBE2A 7319 HP:0005280 Depressed nasal bridge OMIM:300860 UBE2A 7319 HP:0011800 Midface retrusion OMIM:300860 UBE2A 7319 HP:0011356 Regional abnormality of skin OMIM:300860 UBE2A 7319 HP:0000336 Prominent supraorbital ridges OMIM:300860 UBE2A 7319 HP:0007874 Almond-shaped palpebral fissure OMIM:300860 UBE2A 7319 HP:0000154 Wide mouth OMIM:300860 UBE2A 7319 HP:0001773 Short foot OMIM:300860 UBE2A 7319 HP:0002162 Low posterior hairline OMIM:300860 UBE2A 7319 HP:0001250 Seizures OMIM:300860 UBE2A 7319 HP:0010529 Echolalia OMIM:300860 UBE2A 7319 HP:0000958 Dry skin OMIM:300860 UBE2A 7319 HP:0010055 Broad hallux OMIM:300860 UBE2A 7319 HP:0000272 Malar flattening OMIM:300860 UBE2A 7319 HP:0000233 Thin vermilion border OMIM:300860 UBE2A 7319 HP:0001419 X-linked recessive inheritance OMIM:300860 UBE2A 7319 HP:0000664 Synophrys OMIM:300860 UBE2A 7319 HP:0000256 Macrocephaly OMIM:300860 UBE2A 7319 HP:0001763 Pes planus OMIM:300860 UBE2A 7319 HP:0006610 Wide intermamillary distance OMIM:300860 UBE2A 7319 HP:0000475 Broad neck OMIM:300860 UBE2A 7319 HP:0000054 Micropenis OMIM:300860 UBE2A 7319 HP:0002164 Nail dysplasia OMIM:300860 UBE2A 7319 HP:0000582 Upslanted palpebral fissure OMIM:300860 UBE2A 7319 HP:0002714 Downturned corners of mouth OMIM:300860 UBE2A 7319 HP:0007103 Hypointensity of cerebral white matter on MRI OMIM:300860 UBE2A 7319 HP:0005590 Spotty hypopigmentation OMIM:300860 UBE2A 7319 HP:0000490 Deeply set eye OMIM:300860 UBE2A 7319 HP:0000470 Short neck OMIM:300860 UBE2A 7319 HP:0001007 Hirsutism OMIM:300860 UBE2A 7319 HP:0010721 Abnormal hair whorl OMIM:300860 UBE2A 7319 HP:0004324 Increased body weight OMIM:300860 UBE2A 7319 HP:0001249 Intellectual disability OMIM:300860 UBE2A 7319 HP:0000283 Broad face OMIM:300860 UBE2A 7319 HP:0000718 Aggressive behavior OMIM:300860 UBE2A 7319 HP:0002465 Poor speech ORPHANET:3322 ACD 65057 HP:0007440 Generalized hyperpigmentation ORPHANET:3322 ACD 65057 HP:0001315 Reduced tendon reflexes ORPHANET:3322 ACD 65057 HP:0001933 Subcutaneous hemorrhage ORPHANET:3322 ACD 65057 HP:0001881 Abnormality of leukocytes ORPHANET:3322 ACD 65057 HP:0002120 Cerebral cortical atrophy ORPHANET:3322 ACD 65057 HP:0000163 Abnormality of the oral cavity ORPHANET:3322 ACD 65057 HP:0001597 Abnormality of the nail ORPHANET:3322 ACD 65057 HP:0001928 Abnormality of coagulation ORPHANET:3322 ACD 65057 HP:0002311 Incoordination ORPHANET:3322 ACD 65057 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:3322 ACD 65057 HP:0001276 Hypertonia ORPHANET:3322 ACD 65057 HP:0004322 Short stature ORPHANET:3322 ACD 65057 HP:0005528 Bone marrow hypocellularity ORPHANET:3322 ACD 65057 HP:0002119 Ventriculomegaly ORPHANET:3322 ACD 65057 HP:0100543 Cognitive impairment ORPHANET:3322 ACD 65057 HP:0000252 Microcephaly ORPHANET:3322 ACD 65057 HP:0002514 Cerebral calcification ORPHANET:3322 ACD 65057 HP:0001903 Anemia ORPHANET:3322 ACD 65057 HP:0002664 Neoplasm ORPHANET:3322 ACD 65057 HP:0001511 Intrauterine growth retardation ORPHANET:3322 ACD 65057 HP:0005599 Hypopigmentation of hair ORPHANET:3322 ACD 65057 HP:0011362 Abnormal hair quantity ORPHANET:3322 ACD 65057 HP:0010978 Abnormality of immune system physiology ORPHANET:3322 ACD 65057 HP:0001873 Thrombocytopenia ORPHANET:3322 TINF2 26277 HP:0007440 Generalized hyperpigmentation ORPHANET:3322 TINF2 26277 HP:0001315 Reduced tendon reflexes ORPHANET:3322 TINF2 26277 HP:0001933 Subcutaneous hemorrhage ORPHANET:3322 TINF2 26277 HP:0001881 Abnormality of leukocytes ORPHANET:3322 TINF2 26277 HP:0002120 Cerebral cortical atrophy ORPHANET:3322 TINF2 26277 HP:0000163 Abnormality of the oral cavity ORPHANET:3322 TINF2 26277 HP:0001597 Abnormality of the nail ORPHANET:3322 TINF2 26277 HP:0001928 Abnormality of coagulation ORPHANET:3322 TINF2 26277 HP:0002311 Incoordination ORPHANET:3322 TINF2 26277 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:3322 TINF2 26277 HP:0001276 Hypertonia ORPHANET:3322 TINF2 26277 HP:0004322 Short stature ORPHANET:3322 TINF2 26277 HP:0005528 Bone marrow hypocellularity ORPHANET:3322 TINF2 26277 HP:0002119 Ventriculomegaly ORPHANET:3322 TINF2 26277 HP:0100543 Cognitive impairment ORPHANET:3322 TINF2 26277 HP:0000252 Microcephaly ORPHANET:3322 TINF2 26277 HP:0002514 Cerebral calcification ORPHANET:3322 TINF2 26277 HP:0001903 Anemia ORPHANET:3322 TINF2 26277 HP:0002664 Neoplasm ORPHANET:3322 TINF2 26277 HP:0001511 Intrauterine growth retardation ORPHANET:3322 TINF2 26277 HP:0005599 Hypopigmentation of hair ORPHANET:3322 TINF2 26277 HP:0011362 Abnormal hair quantity ORPHANET:3322 TINF2 26277 HP:0010978 Abnormality of immune system physiology ORPHANET:3322 TINF2 26277 HP:0001873 Thrombocytopenia ORPHANET:3322 TERT 7015 HP:0007440 Generalized hyperpigmentation ORPHANET:3322 TERT 7015 HP:0001315 Reduced tendon reflexes ORPHANET:3322 TERT 7015 HP:0001933 Subcutaneous hemorrhage ORPHANET:3322 TERT 7015 HP:0001881 Abnormality of leukocytes ORPHANET:3322 TERT 7015 HP:0002120 Cerebral cortical atrophy ORPHANET:3322 TERT 7015 HP:0000163 Abnormality of the oral cavity ORPHANET:3322 TERT 7015 HP:0001597 Abnormality of the nail ORPHANET:3322 TERT 7015 HP:0001928 Abnormality of coagulation ORPHANET:3322 TERT 7015 HP:0002311 Incoordination ORPHANET:3322 TERT 7015 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:3322 TERT 7015 HP:0001276 Hypertonia ORPHANET:3322 TERT 7015 HP:0004322 Short stature ORPHANET:3322 TERT 7015 HP:0005528 Bone marrow hypocellularity ORPHANET:3322 TERT 7015 HP:0002119 Ventriculomegaly ORPHANET:3322 TERT 7015 HP:0100543 Cognitive impairment ORPHANET:3322 TERT 7015 HP:0000252 Microcephaly ORPHANET:3322 TERT 7015 HP:0002514 Cerebral calcification ORPHANET:3322 TERT 7015 HP:0001903 Anemia ORPHANET:3322 TERT 7015 HP:0002664 Neoplasm ORPHANET:3322 TERT 7015 HP:0001511 Intrauterine growth retardation ORPHANET:3322 TERT 7015 HP:0005599 Hypopigmentation of hair ORPHANET:3322 TERT 7015 HP:0011362 Abnormal hair quantity ORPHANET:3322 TERT 7015 HP:0010978 Abnormality of immune system physiology ORPHANET:3322 TERT 7015 HP:0001873 Thrombocytopenia ORPHANET:3322 DKC1 1736 HP:0007440 Generalized hyperpigmentation ORPHANET:3322 DKC1 1736 HP:0001315 Reduced tendon reflexes ORPHANET:3322 DKC1 1736 HP:0001933 Subcutaneous hemorrhage ORPHANET:3322 DKC1 1736 HP:0001881 Abnormality of leukocytes ORPHANET:3322 DKC1 1736 HP:0002120 Cerebral cortical atrophy ORPHANET:3322 DKC1 1736 HP:0000163 Abnormality of the oral cavity ORPHANET:3322 DKC1 1736 HP:0001597 Abnormality of the nail ORPHANET:3322 DKC1 1736 HP:0001928 Abnormality of coagulation ORPHANET:3322 DKC1 1736 HP:0002311 Incoordination ORPHANET:3322 DKC1 1736 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:3322 DKC1 1736 HP:0001276 Hypertonia ORPHANET:3322 DKC1 1736 HP:0004322 Short stature ORPHANET:3322 DKC1 1736 HP:0005528 Bone marrow hypocellularity ORPHANET:3322 DKC1 1736 HP:0002119 Ventriculomegaly ORPHANET:3322 DKC1 1736 HP:0100543 Cognitive impairment ORPHANET:3322 DKC1 1736 HP:0000252 Microcephaly ORPHANET:3322 DKC1 1736 HP:0002514 Cerebral calcification ORPHANET:3322 DKC1 1736 HP:0001903 Anemia ORPHANET:3322 DKC1 1736 HP:0002664 Neoplasm ORPHANET:3322 DKC1 1736 HP:0001511 Intrauterine growth retardation ORPHANET:3322 DKC1 1736 HP:0005599 Hypopigmentation of hair ORPHANET:3322 DKC1 1736 HP:0011362 Abnormal hair quantity ORPHANET:3322 DKC1 1736 HP:0010978 Abnormality of immune system physiology ORPHANET:3322 DKC1 1736 HP:0001873 Thrombocytopenia ORPHANET:3322 PARN 5073 HP:0007440 Generalized hyperpigmentation ORPHANET:3322 PARN 5073 HP:0001315 Reduced tendon reflexes ORPHANET:3322 PARN 5073 HP:0001933 Subcutaneous hemorrhage ORPHANET:3322 PARN 5073 HP:0001881 Abnormality of leukocytes ORPHANET:3322 PARN 5073 HP:0002120 Cerebral cortical atrophy ORPHANET:3322 PARN 5073 HP:0000163 Abnormality of the oral cavity ORPHANET:3322 PARN 5073 HP:0001597 Abnormality of the nail ORPHANET:3322 PARN 5073 HP:0001928 Abnormality of coagulation ORPHANET:3322 PARN 5073 HP:0002311 Incoordination ORPHANET:3322 PARN 5073 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:3322 PARN 5073 HP:0001276 Hypertonia ORPHANET:3322 PARN 5073 HP:0004322 Short stature ORPHANET:3322 PARN 5073 HP:0005528 Bone marrow hypocellularity ORPHANET:3322 PARN 5073 HP:0002119 Ventriculomegaly ORPHANET:3322 PARN 5073 HP:0100543 Cognitive impairment ORPHANET:3322 PARN 5073 HP:0000252 Microcephaly ORPHANET:3322 PARN 5073 HP:0002514 Cerebral calcification ORPHANET:3322 PARN 5073 HP:0001903 Anemia ORPHANET:3322 PARN 5073 HP:0002664 Neoplasm ORPHANET:3322 PARN 5073 HP:0001511 Intrauterine growth retardation ORPHANET:3322 PARN 5073 HP:0005599 Hypopigmentation of hair ORPHANET:3322 PARN 5073 HP:0011362 Abnormal hair quantity ORPHANET:3322 PARN 5073 HP:0010978 Abnormality of immune system physiology ORPHANET:3322 PARN 5073 HP:0001873 Thrombocytopenia ORPHANET:3322 RTEL1 51750 HP:0007440 Generalized hyperpigmentation ORPHANET:3322 RTEL1 51750 HP:0001315 Reduced tendon reflexes ORPHANET:3322 RTEL1 51750 HP:0001933 Subcutaneous hemorrhage ORPHANET:3322 RTEL1 51750 HP:0001881 Abnormality of leukocytes ORPHANET:3322 RTEL1 51750 HP:0002120 Cerebral cortical atrophy ORPHANET:3322 RTEL1 51750 HP:0000163 Abnormality of the oral cavity ORPHANET:3322 RTEL1 51750 HP:0001597 Abnormality of the nail ORPHANET:3322 RTEL1 51750 HP:0001928 Abnormality of coagulation ORPHANET:3322 RTEL1 51750 HP:0002311 Incoordination ORPHANET:3322 RTEL1 51750 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:3322 RTEL1 51750 HP:0001276 Hypertonia ORPHANET:3322 RTEL1 51750 HP:0004322 Short stature ORPHANET:3322 RTEL1 51750 HP:0005528 Bone marrow hypocellularity ORPHANET:3322 RTEL1 51750 HP:0002119 Ventriculomegaly ORPHANET:3322 RTEL1 51750 HP:0100543 Cognitive impairment ORPHANET:3322 RTEL1 51750 HP:0000252 Microcephaly ORPHANET:3322 RTEL1 51750 HP:0002514 Cerebral calcification ORPHANET:3322 RTEL1 51750 HP:0001903 Anemia ORPHANET:3322 RTEL1 51750 HP:0002664 Neoplasm ORPHANET:3322 RTEL1 51750 HP:0001511 Intrauterine growth retardation ORPHANET:3322 RTEL1 51750 HP:0005599 Hypopigmentation of hair ORPHANET:3322 RTEL1 51750 HP:0011362 Abnormal hair quantity ORPHANET:3322 RTEL1 51750 HP:0010978 Abnormality of immune system physiology ORPHANET:3322 RTEL1 51750 HP:0001873 Thrombocytopenia OMIM:602093 GUCA1A 2978 HP:0000613 Photophobia OMIM:602093 GUCA1A 2978 HP:0000006 Autosomal dominant inheritance OMIM:615503 WDR60 55112 HP:0005280 Depressed nasal bridge OMIM:615503 WDR60 55112 HP:0001156 Brachydactyly syndrome OMIM:615503 WDR60 55112 HP:0000062 Ambiguous genitalia OMIM:615503 WDR60 55112 HP:0001508 Failure to thrive OMIM:615503 WDR60 55112 HP:0000773 Short ribs OMIM:615503 WDR60 55112 HP:0003026 Short long bone OMIM:615503 WDR60 55112 HP:0006644 Thoracic dysplasia OMIM:615503 WDR60 55112 HP:0001159 Syndactyly OMIM:615503 WDR60 55112 HP:0000774 Narrow chest OMIM:615503 WDR60 55112 HP:0001629 Ventricular septal defect OMIM:615503 WDR60 55112 HP:0002089 Pulmonary hypoplasia OMIM:615503 WDR60 55112 HP:0010454 Acetabular spurs OMIM:615503 WDR60 55112 HP:0004322 Short stature OMIM:615503 WDR60 55112 HP:0100732 Pancreatic fibrosis OMIM:615503 WDR60 55112 HP:0000007 Autosomal recessive inheritance OMIM:615503 WDR60 55112 HP:0000256 Macrocephaly OMIM:615503 WDR60 55112 HP:0100258 Preaxial polydactyly OMIM:615503 WDR60 55112 HP:0100259 Postaxial polydactyly OMIM:615503 WDR60 55112 HP:0001561 Polyhydramnios OMIM:615503 WDR60 55112 HP:0002980 Femoral bowing OMIM:609622 KCNJ2 3759 HP:0001962 Palpitations OMIM:609622 KCNJ2 3759 HP:0001649 Tachycardia OMIM:609622 KCNJ2 3759 HP:0000006 Autosomal dominant inheritance OMIM:609622 KCNJ2 3759 HP:0012232 Shortened QT interval OMIM:614701 RAD21 5885 HP:0000319 Smooth philtrum OMIM:614701 RAD21 5885 HP:0001156 Brachydactyly syndrome OMIM:614701 RAD21 5885 HP:0000574 Thick eyebrow OMIM:614701 RAD21 5885 HP:0004322 Short stature OMIM:614701 RAD21 5885 HP:0000431 Wide nasal bridge OMIM:614701 RAD21 5885 HP:0002020 Gastroesophageal reflux OMIM:614701 RAD21 5885 HP:0100777 Exostoses OMIM:614701 RAD21 5885 HP:0000664 Synophrys OMIM:614701 RAD21 5885 HP:0002553 Highly arched eyebrow OMIM:614701 RAD21 5885 HP:0000006 Autosomal dominant inheritance OMIM:614701 RAD21 5885 HP:0000175 Cleft palate OMIM:614701 RAD21 5885 HP:0000252 Microcephaly OMIM:614701 RAD21 5885 HP:0000219 Thin upper lip vermilion OMIM:614701 RAD21 5885 HP:0000343 Long philtrum OMIM:614701 RAD21 5885 HP:0002937 Hemivertebrae OMIM:614701 RAD21 5885 HP:0001263 Global developmental delay OMIM:614701 RAD21 5885 HP:0003812 Phenotypic variability OMIM:614701 RAD21 5885 HP:0008428 Vertebral clefting OMIM:614701 RAD21 5885 HP:0000965 Cutis marmorata OMIM:614701 RAD21 5885 HP:0001159 Syndactyly OMIM:612313 SATB2 23314 HP:0002360 Sleep disturbance OMIM:612313 SATB2 23314 HP:0002648 Abnormality of calvarial morphology OMIM:612313 SATB2 23314 HP:0040082 Happy demeanor OMIM:612313 SATB2 23314 HP:0001166 Arachnodactyly OMIM:612313 SATB2 23314 HP:0001608 Abnormality of the voice OMIM:612313 SATB2 23314 HP:0000276 Long face OMIM:612313 SATB2 23314 HP:0001883 Talipes OMIM:612313 SATB2 23314 HP:0000677 Oligodontia OMIM:612313 SATB2 23314 HP:0006482 Abnormality of dental morphology OMIM:612313 SATB2 23314 HP:0000444 Convex nasal ridge OMIM:612313 SATB2 23314 HP:0002136 Broad-based gait OMIM:612313 SATB2 23314 HP:0000369 Low-set ears OMIM:612313 SATB2 23314 HP:0004322 Short stature OMIM:612313 SATB2 23314 HP:0001382 Joint hypermobility OMIM:612313 SATB2 23314 HP:0000175 Cleft palate OMIM:612313 SATB2 23314 HP:0011800 Midface retrusion OMIM:612313 SATB2 23314 HP:0000160 Narrow mouth OMIM:612313 SATB2 23314 HP:0000486 Strabismus OMIM:612313 SATB2 23314 HP:0000426 Prominent nasal bridge OMIM:612313 SATB2 23314 HP:0008070 Sparse hair OMIM:612313 SATB2 23314 HP:0000347 Micrognathia OMIM:612313 SATB2 23314 HP:0000218 High palate OMIM:612313 SATB2 23314 HP:0000252 Microcephaly OMIM:612313 SATB2 23314 HP:0000319 Smooth philtrum OMIM:612313 SATB2 23314 HP:0000023 Inguinal hernia OMIM:612313 SATB2 23314 HP:0000752 Hyperactivity OMIM:612313 SATB2 23314 HP:0000324 Facial asymmetry OMIM:612313 SATB2 23314 HP:0001250 Seizures OMIM:612313 SATB2 23314 HP:0100499 Tibial deviation of toes OMIM:612313 SATB2 23314 HP:0002164 Nail dysplasia OMIM:612313 SATB2 23314 HP:0000035 Abnormality of the testis OMIM:612313 SATB2 23314 HP:0001762 Talipes equinovarus OMIM:612313 SATB2 23314 HP:0000272 Malar flattening OMIM:612313 SATB2 23314 HP:0000718 Aggressive behavior OMIM:612313 SATB2 23314 HP:0000494 Downslanted palpebral fissures OMIM:612313 SATB2 23314 HP:0000963 Thin skin OMIM:612313 SATB2 23314 HP:0003189 Long nose OMIM:612313 SATB2 23314 HP:0000414 Bulbous nose OMIM:612313 SATB2 23314 HP:0000750 Delayed speech and language development OMIM:612313 SATB2 23314 HP:0001841 Preaxial foot polydactyly OMIM:612313 SATB2 23314 HP:0001252 Muscular hypotonia OMIM:612313 SATB2 23314 HP:0000348 High forehead OMIM:612313 SATB2 23314 HP:0009804 Reduced number of teeth OMIM:612313 SATB2 23314 HP:0001249 Intellectual disability OMIM:612313 SATB2 23314 HP:0000343 Long philtrum OMIM:612313 SATB2 23314 HP:0007018 Attention deficit hyperactivity disorder OMIM:612313 SATB2 23314 HP:0000368 Low-set, posteriorly rotated ears OMIM:612313 SATB2 23314 HP:0002213 Fine hair OMIM:612313 SATB2 23314 HP:0000233 Thin vermilion border OMIM:612313 SATB2 23314 HP:0000463 Anteverted nares OMIM:612313 SATB2 23314 HP:0000678 Dental crowding OMIM:612313 SATB2 23314 HP:0002167 Neurological speech impairment OMIM:612313 SATB2 23314 HP:0000698 Conical tooth OMIM:612313 SATB2 23314 HP:0009602 Abnormality of thumb phalanx OMIM:612313 SATB2 23314 HP:0002007 Frontal bossing OMIM:612313 SATB2 23314 HP:0100543 Cognitive impairment OMIM:612313 SATB2 23314 HP:0000717 Autism OMIM:612313 SATB2 23314 HP:0012385 Camptodactyly OMIM:612313 SATB2 23314 HP:0004209 Clinodactyly of the 5th finger OMIM:612313 SATB2 23314 HP:0011362 Abnormal hair quantity OMIM:616331 DVL1 1855 HP:0000212 Gingival overgrowth OMIM:616331 DVL1 1855 HP:0011001 Increased bone mineral density OMIM:616331 DVL1 1855 HP:0004322 Short stature OMIM:616331 DVL1 1855 HP:0030084 Clinodactyly OMIM:616331 DVL1 1855 HP:0003027 Mesomelia OMIM:616331 DVL1 1855 HP:0000343 Long philtrum OMIM:616331 DVL1 1855 HP:0001537 Umbilical hernia OMIM:616331 DVL1 1855 HP:0000054 Micropenis OMIM:616331 DVL1 1855 HP:0000316 Hypertelorism OMIM:616331 DVL1 1855 HP:0002007 Frontal bossing OMIM:616331 DVL1 1855 HP:0000520 Proptosis OMIM:616331 DVL1 1855 HP:0000463 Anteverted nares OMIM:616331 DVL1 1855 HP:0003196 Short nose OMIM:616331 DVL1 1855 HP:0000678 Dental crowding OMIM:616331 DVL1 1855 HP:0000348 High forehead OMIM:616331 DVL1 1855 HP:0011304 Broad thumb OMIM:616331 DVL1 1855 HP:0001156 Brachydactyly syndrome OMIM:616331 DVL1 1855 HP:0000028 Cryptorchidism OMIM:616331 DVL1 1855 HP:0000405 Conductive hearing impairment OMIM:616331 DVL1 1855 HP:0009882 Short distal phalanx of finger OMIM:616331 DVL1 1855 HP:0002684 Thickened calvaria OMIM:616331 DVL1 1855 HP:0000207 Triangular mouth OMIM:616331 DVL1 1855 HP:0000219 Thin upper lip vermilion OMIM:616331 DVL1 1855 HP:0011800 Midface retrusion OMIM:616331 DVL1 1855 HP:0000256 Macrocephaly OMIM:616331 DVL1 1855 HP:0000689 Dental malocclusion OMIM:616331 DVL1 1855 HP:0000347 Micrognathia OMIM:616331 DVL1 1855 HP:0000407 Sensorineural hearing impairment OMIM:613877 PLIN1 5346 HP:0002155 Hypertriglyceridemia OMIM:613877 PLIN1 5346 HP:0000876 Oligomenorrhea OMIM:613877 PLIN1 5346 HP:0000006 Autosomal dominant inheritance OMIM:613877 PLIN1 5346 HP:0001397 Hepatic steatosis OMIM:613877 PLIN1 5346 HP:0000819 Diabetes mellitus OMIM:613877 PLIN1 5346 HP:0100578 Lipoatrophy OMIM:613877 PLIN1 5346 HP:0003712 Skeletal muscle hypertrophy OMIM:613877 PLIN1 5346 HP:0000956 Acanthosis nigricans OMIM:613877 PLIN1 5346 HP:0000822 Hypertension OMIM:610154 ADCY1 107 HP:0000399 Prelingual sensorineural hearing impairment OMIM:610154 ADCY1 107 HP:0000007 Autosomal recessive inheritance OMIM:608097 ARFGEF2 10564 HP:0001508 Failure to thrive OMIM:608097 ARFGEF2 10564 HP:0001249 Intellectual disability OMIM:608097 ARFGEF2 10564 HP:0001263 Global developmental delay OMIM:608097 ARFGEF2 10564 HP:0000007 Autosomal recessive inheritance OMIM:608097 ARFGEF2 10564 HP:0007165 Periventricular gray matter heterotopia OMIM:608097 ARFGEF2 10564 HP:0003593 Infantile onset OMIM:608097 ARFGEF2 10564 HP:0001250 Seizures OMIM:608097 ARFGEF2 10564 HP:0002521 Hypsarrhythmia OMIM:608097 ARFGEF2 10564 HP:0000252 Microcephaly OMIM:608097 ARFGEF2 10564 HP:0002079 Hypoplasia of the corpus callosum OMIM:608097 ARFGEF2 10564 HP:0001252 Muscular hypotonia OMIM:608097 ARFGEF2 10564 HP:0000817 Poor eye contact OMIM:608097 ARFGEF2 10564 HP:0002273 Tetraparesis OMIM:183086 CACNA1A 773 HP:0007670 Abnormal vestibulo-ocular reflex OMIM:183086 CACNA1A 773 HP:0003743 Genetic anticipation OMIM:183086 CACNA1A 773 HP:0002076 Migraine OMIM:183086 CACNA1A 773 HP:0000763 Sensory neuropathy OMIM:183086 CACNA1A 773 HP:0002073 Progressive cerebellar ataxia OMIM:183086 CACNA1A 773 HP:0001272 Cerebellar atrophy OMIM:183086 CACNA1A 773 HP:0002015 Dysphagia OMIM:183086 CACNA1A 773 HP:0001260 Dysarthria OMIM:183086 CACNA1A 773 HP:0000006 Autosomal dominant inheritance OMIM:183086 CACNA1A 773 HP:0007772 Impaired smooth pursuit OMIM:183086 CACNA1A 773 HP:0003676 Progressive disorder OMIM:183086 CACNA1A 773 HP:0000640 Gaze-evoked nystagmus OMIM:613451 ALX4 60529 HP:0002697 Parietal foramina OMIM:613451 ALX4 60529 HP:0004122 Midline defect of the nose OMIM:613451 ALX4 60529 HP:0000028 Cryptorchidism OMIM:613451 ALX4 60529 HP:0000639 Nystagmus OMIM:613451 ALX4 60529 HP:0001320 Cerebellar vermis hypoplasia OMIM:613451 ALX4 60529 HP:0000456 Bifid nasal tip OMIM:613451 ALX4 60529 HP:0000486 Strabismus OMIM:613451 ALX4 60529 HP:0001511 Intrauterine growth retardation OMIM:613451 ALX4 60529 HP:0012745 Short palpebral fissure OMIM:613451 ALX4 60529 HP:0000582 Upslanted palpebral fissure OMIM:613451 ALX4 60529 HP:0006482 Abnormality of dental morphology OMIM:613451 ALX4 60529 HP:0000506 Telecanthus OMIM:613451 ALX4 60529 HP:0000966 Hypohidrosis OMIM:613451 ALX4 60529 HP:0000535 Sparse eyebrow OMIM:613451 ALX4 60529 HP:0005280 Depressed nasal bridge OMIM:613451 ALX4 60529 HP:0000653 Sparse eyelashes OMIM:613451 ALX4 60529 HP:0100543 Cognitive impairment OMIM:613451 ALX4 60529 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:613451 ALX4 60529 HP:0000316 Hypertelorism OMIM:613451 ALX4 60529 HP:0000288 Abnormality of the philtrum OMIM:613451 ALX4 60529 HP:0001363 Craniosynostosis OMIM:613451 ALX4 60529 HP:0000457 Depressed nasal ridge OMIM:613451 ALX4 60529 HP:0002079 Hypoplasia of the corpus callosum OMIM:613451 ALX4 60529 HP:0000046 Scrotal hypoplasia OMIM:613451 ALX4 60529 HP:0000463 Anteverted nares OMIM:613451 ALX4 60529 HP:0000581 Blepharophimosis OMIM:613451 ALX4 60529 HP:0000633 Decreased lacrimation OMIM:613451 ALX4 60529 HP:0001596 Alopecia OMIM:613451 ALX4 60529 HP:0001249 Intellectual disability OMIM:613451 ALX4 60529 HP:0000368 Low-set, posteriorly rotated ears OMIM:613451 ALX4 60529 HP:0002084 Encephalocele OMIM:613451 ALX4 60529 HP:0009924 Aplasia/Hypoplasia involving the nose OMIM:613451 ALX4 60529 HP:0002007 Frontal bossing OMIM:613451 ALX4 60529 HP:0001562 Oligohydramnios OMIM:613451 ALX4 60529 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:613451 ALX4 60529 HP:0001362 Skull defect OMIM:613451 ALX4 60529 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:613451 ALX4 60529 HP:0002213 Fine hair OMIM:613451 ALX4 60529 HP:0000431 Wide nasal bridge OMIM:235550 SP110 3431 HP:0000007 Autosomal recessive inheritance OMIM:235550 SP110 3431 HP:0002849 Absence of lymph node germinal center OMIM:235550 SP110 3431 HP:0002721 Immunodeficiency OMIM:235550 SP110 3431 HP:0006685 Endocardial fibrosis OMIM:235550 SP110 3431 HP:0004315 IgG deficiency OMIM:235550 SP110 3431 HP:0000252 Microcephaly OMIM:235550 SP110 3431 HP:0001392 Abnormality of the liver OMIM:614350 MSH6 2956 HP:0012114 Endometrial carcinoma OMIM:614350 MSH6 2956 HP:0000006 Autosomal dominant inheritance OMIM:614350 MSH6 2956 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:612964 NR5A1 2516 HP:0008209 Premature ovarian failure OMIM:612964 NR5A1 2516 HP:0001470 Sex-limited autosomal dominant OMIM:603563 KIAA0196 9897 HP:0002839 Urinary bladder sphincter dysfunction OMIM:603563 KIAA0196 9897 HP:0007340 Lower limb muscle weakness OMIM:603563 KIAA0196 9897 HP:0001347 Hyperreflexia OMIM:603563 KIAA0196 9897 HP:0002314 Degeneration of the lateral corticospinal tracts OMIM:603563 KIAA0196 9897 HP:0002061 Lower limb spasticity OMIM:603563 KIAA0196 9897 HP:0003587 Insidious onset OMIM:603563 KIAA0196 9897 HP:0000020 Urinary incontinence OMIM:603563 KIAA0196 9897 HP:0003676 Progressive disorder OMIM:603563 KIAA0196 9897 HP:0001258 Spastic paraplegia OMIM:603563 KIAA0196 9897 HP:0006986 Upper limb spasticity OMIM:603563 KIAA0196 9897 HP:0002166 Impaired vibration sensation in the lower limbs OMIM:603563 KIAA0196 9897 HP:0000006 Autosomal dominant inheritance OMIM:603563 KIAA0196 9897 HP:0000012 Urinary urgency OMIM:603563 KIAA0196 9897 HP:0002064 Spastic gait OMIM:603563 KIAA0196 9897 HP:0003581 Adult onset OMIM:603563 KIAA0196 9897 HP:0003487 Babinski sign OMIM:603563 KIAA0196 9897 HP:0001761 Pes cavus OMIM:603147 ALG6 29929 HP:0001250 Seizures OMIM:603147 ALG6 29929 HP:0001976 Reduced antithrombin III activity OMIM:603147 ALG6 29929 HP:0001284 Areflexia OMIM:603147 ALG6 29929 HP:0001929 Reduced factor XI activity OMIM:603147 ALG6 29929 HP:0001263 Global developmental delay OMIM:603147 ALG6 29929 HP:0000007 Autosomal recessive inheritance OMIM:603147 ALG6 29929 HP:0008936 Muscular hypotonia of the trunk OMIM:603147 ALG6 29929 HP:0008150 Elevated serum transaminases during infections OMIM:603147 ALG6 29929 HP:0003642 Type I transferrin isoform profile OMIM:603147 ALG6 29929 HP:0100543 Cognitive impairment OMIM:603147 ALG6 29929 HP:0001399 Hepatic failure OMIM:603147 ALG6 29929 HP:0000486 Strabismus OMIM:603147 ALG6 29929 HP:0001252 Muscular hypotonia OMIM:603147 ALG6 29929 HP:0001251 Ataxia OMIM:211400 SCNN1B 6338 HP:0012236 Elevated sweat chloride OMIM:211400 SCNN1B 6338 HP:0002110 Bronchiectasis OMIM:211400 SCNN1B 6338 HP:0000006 Autosomal dominant inheritance OMIM:211400 SCNN1B 6338 HP:0004469 Chronic bronchitis OMIM:609432 BHLHA9 727857 HP:0001770 Toe syndactyly OMIM:609432 BHLHA9 727857 HP:0010185 Aplasia/Hypoplasia of the distal phalanges of the toes OMIM:609432 BHLHA9 727857 HP:0009776 Adactyly OMIM:609432 BHLHA9 727857 HP:0009568 Aplasia/Hypoplasia of the middle phalanx of the 2nd finger OMIM:609432 BHLHA9 727857 HP:0000954 Single transverse palmar crease OMIM:609432 BHLHA9 727857 HP:0010064 Symphalangism affecting the phalanges of the hallux OMIM:609432 BHLHA9 727857 HP:0006097 3-4 finger syndactyly OMIM:609432 BHLHA9 727857 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:609432 BHLHA9 727857 HP:0000007 Autosomal recessive inheritance OMIM:609432 BHLHA9 727857 HP:0009177 Proximal/middle symphalangism of 5th finger OMIM:609432 BHLHA9 727857 HP:0008362 Aplasia/Hypoplasia of the hallux OMIM:609432 BHLHA9 727857 HP:0009773 Symphalangism affecting the phalanges of the hand OMIM:609432 BHLHA9 727857 HP:0001163 Abnormality of the metacarpal bones OMIM:609432 BHLHA9 727857 HP:0009161 Aplasia/Hypoplasia of the middle phalanx of the 5th finger OMIM:609432 BHLHA9 727857 HP:0010109 Short hallux OMIM:609432 BHLHA9 727857 HP:0001156 Brachydactyly syndrome OMIM:609432 BHLHA9 727857 HP:0004209 Clinodactyly of the 5th finger OMIM:609432 BHLHA9 727857 HP:0005048 Synostosis of carpal bones OMIM:610478 CACNA2D4 93589 HP:0000505 Visual impairment OMIM:610478 CACNA2D4 93589 HP:0007984 Reduced amplitude of b-wave (ERG) OMIM:610478 CACNA2D4 93589 HP:0000007 Autosomal recessive inheritance OMIM:605259 KCNC3 3748 HP:0000006 Autosomal dominant inheritance OMIM:605259 KCNC3 3748 HP:0001252 Muscular hypotonia OMIM:605259 KCNC3 3748 HP:0001270 Motor delay OMIM:605259 KCNC3 3748 HP:0001260 Dysarthria OMIM:605259 KCNC3 3748 HP:0001347 Hyperreflexia OMIM:605259 KCNC3 3748 HP:0001249 Intellectual disability OMIM:605259 KCNC3 3748 HP:0002062 Morphological abnormality of the pyramidal tract OMIM:605259 KCNC3 3748 HP:0002406 Limb dysmetria OMIM:605259 KCNC3 3748 HP:0002070 Limb ataxia OMIM:605259 KCNC3 3748 HP:0001272 Cerebellar atrophy OMIM:605259 KCNC3 3748 HP:0002073 Progressive cerebellar ataxia OMIM:605259 KCNC3 3748 HP:0002066 Gait ataxia OMIM:605259 KCNC3 3748 HP:0007256 Abnormal pyramidal signs OMIM:605259 KCNC3 3748 HP:0000639 Nystagmus OMIM:605259 KCNC3 3748 HP:0003677 Slow progression OMIM:614920 PEX11B 8799 HP:0000007 Autosomal recessive inheritance OMIM:614920 PEX11B 8799 HP:0001730 Progressive hearing impairment OMIM:614920 PEX11B 8799 HP:0001256 Intellectual disability, mild OMIM:614920 PEX11B 8799 HP:0001271 Polyneuropathy OMIM:614920 PEX11B 8799 HP:0000519 Congenital cataract OMIM:614920 PEX11B 8799 HP:0002076 Migraine ORPHANET:2697 VIPAS39 63894 HP:0004370 Abnormality of temperature regulation ORPHANET:2697 VIPAS39 63894 HP:0000444 Convex nasal ridge ORPHANET:2697 VIPAS39 63894 HP:0001838 Rocker bottom foot ORPHANET:2697 VIPAS39 63894 HP:0001671 Abnormality of the cardiac septa ORPHANET:2697 VIPAS39 63894 HP:0000407 Sensorineural hearing impairment ORPHANET:2697 VIPAS39 63894 HP:0001883 Talipes ORPHANET:2697 VIPAS39 63894 HP:0000768 Pectus carinatum ORPHANET:2697 VIPAS39 63894 HP:0003272 Abnormality of the hip bone ORPHANET:2697 VIPAS39 63894 HP:0001252 Muscular hypotonia ORPHANET:2697 VIPAS39 63894 HP:0000091 Abnormality of the renal tubule ORPHANET:2697 VIPAS39 63894 HP:0000582 Upslanted palpebral fissure ORPHANET:2697 VIPAS39 63894 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:2697 VIPAS39 63894 HP:0003355 Aminoaciduria ORPHANET:2697 VIPAS39 63894 HP:0000973 Cutis laxa ORPHANET:2697 VIPAS39 63894 HP:0002240 Hepatomegaly ORPHANET:2697 VIPAS39 63894 HP:0001903 Anemia ORPHANET:2697 VIPAS39 63894 HP:0012211 Abnormal renal physiology ORPHANET:2697 VIPAS39 63894 HP:0002804 Arthrogryposis multiplex congenita ORPHANET:2697 VIPAS39 63894 HP:0002808 Kyphosis ORPHANET:2697 VIPAS39 63894 HP:0001872 Abnormality of thrombocytes ORPHANET:2697 VIPAS39 63894 HP:0003202 Skeletal muscle atrophy ORPHANET:2697 VIPAS39 63894 HP:0001928 Abnormality of coagulation ORPHANET:2697 VIPAS39 63894 HP:0000873 Diabetes insipidus ORPHANET:2697 VIPAS39 63894 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2697 VIPAS39 63894 HP:0002757 Recurrent fractures ORPHANET:2697 VIPAS39 63894 HP:0000174 Abnormality of the palate ORPHANET:2697 VIPAS39 63894 HP:0100543 Cognitive impairment ORPHANET:2697 VIPAS39 63894 HP:0008064 Ichthyosis ORPHANET:2697 VIPAS39 63894 HP:0001376 Limitation of joint mobility ORPHANET:2697 VIPAS39 63894 HP:0000787 Nephrolithiasis ORPHANET:2697 VIPAS39 63894 HP:0001562 Oligohydramnios ORPHANET:2697 VIPAS39 63894 HP:0005280 Depressed nasal bridge ORPHANET:2697 VIPAS39 63894 HP:0000821 Hypothyroidism ORPHANET:2697 VIPAS39 63894 HP:0001394 Cirrhosis ORPHANET:2697 VIPAS39 63894 HP:0002024 Malabsorption ORPHANET:2697 VPS33B 26276 HP:0004370 Abnormality of temperature regulation ORPHANET:2697 VPS33B 26276 HP:0000444 Convex nasal ridge ORPHANET:2697 VPS33B 26276 HP:0001838 Rocker bottom foot ORPHANET:2697 VPS33B 26276 HP:0001671 Abnormality of the cardiac septa ORPHANET:2697 VPS33B 26276 HP:0000407 Sensorineural hearing impairment ORPHANET:2697 VPS33B 26276 HP:0001883 Talipes ORPHANET:2697 VPS33B 26276 HP:0000768 Pectus carinatum ORPHANET:2697 VPS33B 26276 HP:0003272 Abnormality of the hip bone ORPHANET:2697 VPS33B 26276 HP:0001252 Muscular hypotonia ORPHANET:2697 VPS33B 26276 HP:0000091 Abnormality of the renal tubule ORPHANET:2697 VPS33B 26276 HP:0000582 Upslanted palpebral fissure ORPHANET:2697 VPS33B 26276 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:2697 VPS33B 26276 HP:0003355 Aminoaciduria ORPHANET:2697 VPS33B 26276 HP:0000973 Cutis laxa ORPHANET:2697 VPS33B 26276 HP:0002240 Hepatomegaly ORPHANET:2697 VPS33B 26276 HP:0001903 Anemia ORPHANET:2697 VPS33B 26276 HP:0012211 Abnormal renal physiology ORPHANET:2697 VPS33B 26276 HP:0002804 Arthrogryposis multiplex congenita ORPHANET:2697 VPS33B 26276 HP:0002808 Kyphosis ORPHANET:2697 VPS33B 26276 HP:0001872 Abnormality of thrombocytes ORPHANET:2697 VPS33B 26276 HP:0003202 Skeletal muscle atrophy ORPHANET:2697 VPS33B 26276 HP:0001928 Abnormality of coagulation ORPHANET:2697 VPS33B 26276 HP:0000873 Diabetes insipidus ORPHANET:2697 VPS33B 26276 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2697 VPS33B 26276 HP:0002757 Recurrent fractures ORPHANET:2697 VPS33B 26276 HP:0000174 Abnormality of the palate ORPHANET:2697 VPS33B 26276 HP:0100543 Cognitive impairment ORPHANET:2697 VPS33B 26276 HP:0008064 Ichthyosis ORPHANET:2697 VPS33B 26276 HP:0001376 Limitation of joint mobility ORPHANET:2697 VPS33B 26276 HP:0000787 Nephrolithiasis ORPHANET:2697 VPS33B 26276 HP:0001562 Oligohydramnios ORPHANET:2697 VPS33B 26276 HP:0005280 Depressed nasal bridge ORPHANET:2697 VPS33B 26276 HP:0000821 Hypothyroidism ORPHANET:2697 VPS33B 26276 HP:0001394 Cirrhosis ORPHANET:2697 VPS33B 26276 HP:0002024 Malabsorption OMIM:613148 IL10RA 3587 HP:0002573 Hematochezia OMIM:613148 IL10RA 3587 HP:0000007 Autosomal recessive inheritance OMIM:613148 IL10RA 3587 HP:0009789 Perianal abscess OMIM:613148 IL10RA 3587 HP:0000999 Pyoderma OMIM:613148 IL10RA 3587 HP:0004387 Enterocolitis OMIM:303800 OPN1MW 2652 HP:0011520 Deuteranomoly OMIM:303800 OPN1MW 2652 HP:0001419 X-linked recessive inheritance OMIM:614894 IRF8 3394 HP:0000007 Autosomal recessive inheritance OMIM:614894 IRF8 3394 HP:0001508 Failure to thrive OMIM:614894 IRF8 3394 HP:0003593 Infantile onset OMIM:614399 MEGF10 84466 HP:0001558 Decreased fetal movement OMIM:614399 MEGF10 84466 HP:0001270 Motor delay OMIM:614399 MEGF10 84466 HP:0002015 Dysphagia OMIM:614399 MEGF10 84466 HP:0002878 Respiratory failure OMIM:614399 MEGF10 84466 HP:0002091 Restrictive lung disease OMIM:614399 MEGF10 84466 HP:0000767 Pectus excavatum OMIM:614399 MEGF10 84466 HP:0100490 Camptodactyly of finger OMIM:614399 MEGF10 84466 HP:0002650 Scoliosis OMIM:614399 MEGF10 84466 HP:0001265 Hyporeflexia OMIM:614399 MEGF10 84466 HP:0001762 Talipes equinovarus OMIM:614399 MEGF10 84466 HP:0003828 Variable expressivity OMIM:614399 MEGF10 84466 HP:0006597 Diaphragmatic paralysis OMIM:614399 MEGF10 84466 HP:0000007 Autosomal recessive inheritance OMIM:614399 MEGF10 84466 HP:0009046 Difficulty running OMIM:614399 MEGF10 84466 HP:0001319 Neonatal hypotonia OMIM:614399 MEGF10 84466 HP:0010628 Facial palsy OMIM:614399 MEGF10 84466 HP:0000218 High palate OMIM:614399 MEGF10 84466 HP:0001508 Failure to thrive OMIM:614399 MEGF10 84466 HP:0001284 Areflexia OMIM:614399 MEGF10 84466 HP:0003577 Congenital onset OMIM:614399 MEGF10 84466 HP:0002421 Poor head control OMIM:614399 MEGF10 84466 HP:0000175 Cleft palate OMIM:614399 MEGF10 84466 HP:0001250 Seizures OMIM:614399 MEGF10 84466 HP:0001611 Nasal speech OMIM:600081 CYP2R1 120227 HP:0002753 Thin bony cortex OMIM:600081 CYP2R1 120227 HP:0000886 Deformed rib cage OMIM:600081 CYP2R1 120227 HP:0002980 Femoral bowing OMIM:600081 CYP2R1 120227 HP:0005469 Flat occiput OMIM:600081 CYP2R1 120227 HP:0002982 Tibial bowing OMIM:600081 CYP2R1 120227 HP:0010502 Fibular bowing OMIM:600081 CYP2R1 120227 HP:0002148 Hypophosphatemia OMIM:600081 CYP2R1 120227 HP:0001252 Muscular hypotonia OMIM:600081 CYP2R1 120227 HP:0004492 Widely patent fontanelles and sutures OMIM:600081 CYP2R1 120227 HP:0001324 Muscle weakness OMIM:600081 CYP2R1 120227 HP:0002663 Delayed epiphyseal ossification OMIM:600081 CYP2R1 120227 HP:0000893 Bulging of the costochondral junction OMIM:600081 CYP2R1 120227 HP:0002757 Recurrent fractures OMIM:600081 CYP2R1 120227 HP:0003025 Metaphyseal irregularity OMIM:600081 CYP2R1 120227 HP:0003020 Enlargement of the wrists OMIM:600081 CYP2R1 120227 HP:0002752 Sparse bone trabeculae OMIM:600081 CYP2R1 120227 HP:0003029 Enlargement of the ankles OMIM:600081 CYP2R1 120227 HP:0001510 Growth delay OMIM:600081 CYP2R1 120227 HP:0003593 Infantile onset OMIM:600081 CYP2R1 120227 HP:0000007 Autosomal recessive inheritance OMIM:600081 CYP2R1 120227 HP:0003155 Elevated alkaline phosphatase OMIM:600081 CYP2R1 120227 HP:0002355 Difficulty walking OMIM:600081 CYP2R1 120227 HP:0003698 Difficulty standing OMIM:600081 CYP2R1 120227 HP:0002653 Bone pain OMIM:600081 CYP2R1 120227 HP:0003013 Bulging epiphyses OMIM:600081 CYP2R1 120227 HP:0002979 Bowing of the legs OMIM:600081 CYP2R1 120227 HP:0000920 Enlargement of the costochondral junction OMIM:600081 CYP2R1 120227 HP:0002748 Rickets OMIM:600081 CYP2R1 120227 HP:0002007 Frontal bossing OMIM:600081 CYP2R1 120227 HP:0001508 Failure to thrive OMIM:257980 WNT10A 80326 HP:0008388 Abnormality of the toenails OMIM:257980 WNT10A 80326 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:257980 WNT10A 80326 HP:0011362 Abnormal hair quantity OMIM:257980 WNT10A 80326 HP:0000958 Dry skin OMIM:257980 WNT10A 80326 HP:0001025 Urticaria OMIM:257980 WNT10A 80326 HP:0001810 Dystrophic toenail OMIM:257980 WNT10A 80326 HP:0008069 Neoplasm of the skin OMIM:257980 WNT10A 80326 HP:0008070 Sparse hair OMIM:257980 WNT10A 80326 HP:0000668 Hypodontia OMIM:257980 WNT10A 80326 HP:0000007 Autosomal recessive inheritance OMIM:257980 WNT10A 80326 HP:0000975 Hyperhidrosis OMIM:257980 WNT10A 80326 HP:0100585 Teleangiectasia of the skin OMIM:257980 WNT10A 80326 HP:0007410 Palmoplantar hyperhidrosis OMIM:257980 WNT10A 80326 HP:0000956 Acanthosis nigricans OMIM:257980 WNT10A 80326 HP:0011359 Dry hair OMIM:257980 WNT10A 80326 HP:0000982 Palmoplantar keratoderma OMIM:257980 WNT10A 80326 HP:0007556 Plantar hyperkeratosis OMIM:257980 WNT10A 80326 HP:0000966 Hypohidrosis OMIM:257980 WNT10A 80326 HP:0000613 Photophobia OMIM:257980 WNT10A 80326 HP:0000992 Cutaneous photosensitivity OMIM:257980 WNT10A 80326 HP:0002209 Sparse scalp hair OMIM:257980 WNT10A 80326 HP:0009804 Reduced number of teeth OMIM:257980 WNT10A 80326 HP:0001231 Abnormality of the fingernails OMIM:257980 WNT10A 80326 HP:0010719 Abnormality of hair texture OMIM:257980 WNT10A 80326 HP:0010298 Smooth tongue OMIM:257980 WNT10A 80326 HP:0006349 Agenesis of permanent teeth OMIM:257980 WNT10A 80326 HP:0006482 Abnormality of dental morphology OMIM:257980 WNT10A 80326 HP:0000535 Sparse eyebrow OMIM:257980 WNT10A 80326 HP:0006481 Abnormality of primary teeth OMIM:257980 WNT10A 80326 HP:0002231 Sparse body hair OMIM:257980 WNT10A 80326 HP:0002164 Nail dysplasia OMIM:257980 WNT10A 80326 HP:0000498 Blepharitis OMIM:257980 WNT10A 80326 HP:0000988 Skin rash OMIM:257980 WNT10A 80326 HP:0000689 Dental malocclusion OMIM:257980 WNT10A 80326 HP:0010783 Erythema OMIM:257980 WNT10A 80326 HP:0001798 Anonychia OMIM:604931 H6PD 9563 HP:0001061 Acne OMIM:604931 H6PD 9563 HP:0001007 Hirsutism OMIM:604931 H6PD 9563 HP:0000876 Oligomenorrhea OMIM:604931 H6PD 9563 HP:0000007 Autosomal recessive inheritance OMIM:604931 H6PD 9563 HP:0001513 Obesity OMIM:604931 H6PD 9563 HP:0000789 Infertility OMIM:604271 GHR 2690 HP:0004322 Short stature OMIM:126600 EFEMP1 2202 HP:0000006 Autosomal dominant inheritance OMIM:126600 EFEMP1 2202 HP:0007937 Honeycomb retinal degeneration OMIM:126600 EFEMP1 2202 HP:0000556 Retinal dystrophy OMIM:610227 ZNF750 79755 HP:0001051 Seborrheic dermatitis OMIM:610227 ZNF750 79755 HP:0000006 Autosomal dominant inheritance OMIM:610227 ZNF750 79755 HP:0000962 Hyperkeratosis OMIM:615715 ERCC6L2 375748 HP:0001319 Neonatal hypotonia OMIM:615715 ERCC6L2 375748 HP:0005528 Bone marrow hypocellularity OMIM:615715 ERCC6L2 375748 HP:0001873 Thrombocytopenia OMIM:615715 ERCC6L2 375748 HP:0000252 Microcephaly OMIM:615715 ERCC6L2 375748 HP:0000007 Autosomal recessive inheritance OMIM:615715 ERCC6L2 375748 HP:0001903 Anemia OMIM:615715 ERCC6L2 375748 HP:0001882 Leukopenia OMIM:312000 SOX3 6658 HP:0000871 Panhypopituitarism OMIM:312000 SOX3 6658 HP:0000839 Pituitary dwarfism OMIM:312000 SOX3 6658 HP:0001417 X-linked inheritance OMIM:613855 CACNB4 785 HP:0000640 Gaze-evoked nystagmus OMIM:613855 CACNB4 785 HP:0000006 Autosomal dominant inheritance OMIM:613855 CACNB4 785 HP:0002131 Episodic ataxia OMIM:613855 CACNB4 785 HP:0001260 Dysarthria OMIM:208530 GDF1 2657 HP:0010772 Anomalous pulmonary venous return OMIM:208530 GDF1 2657 HP:0001746 Asplenia OMIM:208530 GDF1 2657 HP:0011536 Right atrial isomerism OMIM:208530 GDF1 2657 HP:0001274 Agenesis of corpus callosum OMIM:208530 GDF1 2657 HP:0001642 Pulmonic stenosis OMIM:208530 GDF1 2657 HP:0001696 Situs inversus totalis OMIM:208530 GDF1 2657 HP:0001748 Polysplenia OMIM:208530 GDF1 2657 HP:0000007 Autosomal recessive inheritance OMIM:208530 GDF1 2657 HP:0011565 Common atrium OMIM:208530 GDF1 2657 HP:0004935 Pulmonary artery atresia OMIM:208530 GDF1 2657 HP:0002101 Abnormal lung lobation OMIM:208530 GDF1 2657 HP:0001629 Ventricular septal defect OMIM:208530 GDF1 2657 HP:0001631 Defect in the atrial septum OMIM:208530 GDF1 2657 HP:0001674 Complete atrioventricular canal defect ORPHANET:93946 PQBP1 10084 HP:0001631 Defect in the atrial septum ORPHANET:93946 PQBP1 10084 HP:0000252 Microcephaly ORPHANET:93946 PQBP1 10084 HP:0004322 Short stature ORPHANET:93946 PQBP1 10084 HP:0000175 Cleft palate ORPHANET:93946 PQBP1 10084 HP:0000160 Narrow mouth ORPHANET:93946 PQBP1 10084 HP:0005105 Abnormal nasal morphology ORPHANET:93946 PQBP1 10084 HP:0000347 Micrognathia ORPHANET:93946 PQBP1 10084 HP:0008572 External ear malformation ORPHANET:93946 PQBP1 10084 HP:0100543 Cognitive impairment OMIM:605074 MET 4233 HP:0003829 Incomplete penetrance OMIM:605074 MET 4233 HP:0006766 Papillary renal cell carcinoma OMIM:605074 MET 4233 HP:0000006 Autosomal dominant inheritance OMIM:605074 PRCC 5546 HP:0003829 Incomplete penetrance OMIM:605074 PRCC 5546 HP:0006766 Papillary renal cell carcinoma OMIM:605074 PRCC 5546 HP:0000006 Autosomal dominant inheritance OMIM:602481 ATP1A2 477 HP:0002321 Vertigo OMIM:602481 ATP1A2 477 HP:0000006 Autosomal dominant inheritance OMIM:602481 ATP1A2 477 HP:0003829 Incomplete penetrance OMIM:602481 ATP1A2 477 HP:0001249 Intellectual disability OMIM:602481 ATP1A2 477 HP:0002077 Migraine with aura OMIM:602481 ATP1A2 477 HP:0002131 Episodic ataxia OMIM:602481 ATP1A2 477 HP:0002357 Dysphasia OMIM:602481 ATP1A2 477 HP:0001125 Hemianopic blurring of vision OMIM:602481 ATP1A2 477 HP:0001259 Coma OMIM:602481 ATP1A2 477 HP:0000651 Diplopia OMIM:602481 ATP1A2 477 HP:0000622 Blurred vision OMIM:602481 ATP1A2 477 HP:0001250 Seizures OMIM:602481 ATP1A2 477 HP:0002301 Hemiplegia OMIM:602481 ATP1A2 477 HP:0001945 Fever OMIM:602481 ATP1A2 477 HP:0001260 Dysarthria OMIM:602481 ATP1A2 477 HP:0002186 Apraxia OMIM:602481 ATP1A2 477 HP:0002381 Aphasia OMIM:602481 ATP1A2 477 HP:0002329 Drowsiness OMIM:602481 ATP1A2 477 HP:0001289 Confusion OMIM:602481 ATP1A2 477 HP:0001269 Hemiparesis OMIM:612657 PROM1 8842 HP:0000548 Cone-rod dystrophy OMIM:612657 PROM1 8842 HP:0000006 Autosomal dominant inheritance OMIM:612657 PROM1 8842 HP:0008008 Progressive central visual loss OMIM:611876 CACNB2 783 HP:0012232 Shortened QT interval OMIM:611876 CACNB2 783 HP:0005110 Atrial fibrillation OMIM:611876 CACNB2 783 HP:0001279 Syncope OMIM:611876 CACNB2 783 HP:0000006 Autosomal dominant inheritance OMIM:156550 COL2A1 1280 HP:0002663 Delayed epiphyseal ossification OMIM:156550 COL2A1 1280 HP:0200003 Splayed epiphyses OMIM:156550 COL2A1 1280 HP:0000520 Proptosis OMIM:156550 COL2A1 1280 HP:0000175 Cleft palate OMIM:156550 COL2A1 1280 HP:0000272 Malar flattening OMIM:156550 COL2A1 1280 HP:0000545 Myopia OMIM:156550 COL2A1 1280 HP:0000023 Inguinal hernia OMIM:156550 COL2A1 1280 HP:0002652 Skeletal dysplasia OMIM:156550 COL2A1 1280 HP:0002808 Kyphosis OMIM:156550 COL2A1 1280 HP:0002827 Hip dislocation OMIM:156550 COL2A1 1280 HP:0010306 Short thorax OMIM:156550 COL2A1 1280 HP:0005280 Depressed nasal bridge OMIM:156550 COL2A1 1280 HP:0000926 Platyspondyly OMIM:156550 COL2A1 1280 HP:0000403 Recurrent otitis media OMIM:156550 COL2A1 1280 HP:0004619 Lumbar kyphoscoliosis OMIM:156550 COL2A1 1280 HP:0000006 Autosomal dominant inheritance OMIM:156550 COL2A1 1280 HP:0002983 Micromelia OMIM:156550 COL2A1 1280 HP:0003037 Enlarged joints OMIM:156550 COL2A1 1280 HP:0000518 Cataract OMIM:156550 COL2A1 1280 HP:0003272 Abnormality of the hip bone OMIM:156550 COL2A1 1280 HP:0001270 Motor delay OMIM:156550 COL2A1 1280 HP:0000405 Conductive hearing impairment OMIM:156550 COL2A1 1280 HP:0002823 Abnormality of the femur OMIM:156550 COL2A1 1280 HP:0003015 Flared metaphysis OMIM:156550 COL2A1 1280 HP:0002650 Scoliosis OMIM:156550 COL2A1 1280 HP:0006172 Flattened, squared-off epiphyses of tubular bones OMIM:156550 COL2A1 1280 HP:0003273 Hip contracture OMIM:156550 COL2A1 1280 HP:0000470 Short neck OMIM:156550 COL2A1 1280 HP:0100625 Enlarged thorax OMIM:156550 COL2A1 1280 HP:0004327 Abnormality of the vitreous humor OMIM:156550 COL2A1 1280 HP:0000365 Hearing impairment OMIM:156550 COL2A1 1280 HP:0001288 Gait disturbance OMIM:156550 COL2A1 1280 HP:0000311 Round face OMIM:156550 COL2A1 1280 HP:0000501 Glaucoma OMIM:156550 COL2A1 1280 HP:0001083 Ectopia lentis OMIM:156550 COL2A1 1280 HP:0000541 Retinal detachment OMIM:156550 COL2A1 1280 HP:0004322 Short stature OMIM:156550 COL2A1 1280 HP:0000347 Micrognathia OMIM:156550 COL2A1 1280 HP:0003307 Hyperlordosis OMIM:156550 COL2A1 1280 HP:0001537 Umbilical hernia OMIM:156550 COL2A1 1280 HP:0001376 Limitation of joint mobility OMIM:156550 COL2A1 1280 HP:0002777 Tracheal stenosis OMIM:156550 COL2A1 1280 HP:0000947 Dumbbell-shaped long bone OMIM:156550 COL2A1 1280 HP:0002098 Respiratory distress OMIM:156550 COL2A1 1280 HP:0000508 Ptosis OMIM:156550 COL2A1 1280 HP:0002093 Respiratory insufficiency OMIM:156550 COL2A1 1280 HP:0002758 Osteoarthritis OMIM:156550 COL2A1 1280 HP:0000162 Glossoptosis OMIM:156550 COL2A1 1280 HP:0002812 Coxa vara OMIM:156550 COL2A1 1280 HP:0000488 Retinopathy OMIM:156550 COL2A1 1280 HP:0002779 Tracheomalacia OMIM:156550 COL2A1 1280 HP:0003417 Coronal cleft vertebrae OMIM:156550 COL2A1 1280 HP:0008839 Hypoplastic pelvis OMIM:156550 COL2A1 1280 HP:0008271 Abnormal cartilage collagen OMIM:156550 COL2A1 1280 HP:0003521 Disproportionate short-trunk short stature OMIM:601492 HYAL1 3373 HP:0003170 Abnormality of the acetabulum OMIM:601492 HYAL1 3373 HP:0000193 Bifid uvula OMIM:601492 HYAL1 3373 HP:0000951 Abnormality of the skin OMIM:601492 HYAL1 3373 HP:0004322 Short stature OMIM:601492 HYAL1 3373 HP:0000403 Recurrent otitis media OMIM:601492 HYAL1 3373 HP:0000176 Submucous cleft hard palate OMIM:601492 HYAL1 3373 HP:0002159 Heparan sulfate excretion in urine OMIM:601492 HYAL1 3373 HP:0005280 Depressed nasal bridge OMIM:601492 HYAL1 3373 HP:0000007 Autosomal recessive inheritance OMIM:601492 HYAL1 3373 HP:0012069 Keratan sulfate excretion in urine OMIM:615905 SLC13A5 284111 HP:0002133 Status epilepticus OMIM:615905 SLC13A5 284111 HP:0008936 Muscular hypotonia of the trunk OMIM:615905 SLC13A5 284111 HP:0200134 Epileptic encephalopathy OMIM:144200 KRT1 3848 HP:0000964 Eczema OMIM:144200 KRT1 3848 HP:0001231 Abnormality of the fingernails OMIM:144200 KRT1 3848 HP:0200043 Verrucae OMIM:144200 KRT1 3848 HP:0000975 Hyperhidrosis OMIM:144200 KRT1 3848 HP:0000982 Palmoplantar keratoderma OMIM:144200 KRT1 3848 HP:0000972 Palmoplantar hyperkeratosis OMIM:144200 KRT1 3848 HP:0007559 Localized epidermolytic hyperkeratosis OMIM:144200 KRT1 3848 HP:0003212 Increased IgE level OMIM:144200 KRT1 3848 HP:0000006 Autosomal dominant inheritance OMIM:144200 KRT9 3857 HP:0000964 Eczema OMIM:144200 KRT9 3857 HP:0001231 Abnormality of the fingernails OMIM:144200 KRT9 3857 HP:0200043 Verrucae OMIM:144200 KRT9 3857 HP:0000975 Hyperhidrosis OMIM:144200 KRT9 3857 HP:0000982 Palmoplantar keratoderma OMIM:144200 KRT9 3857 HP:0000972 Palmoplantar hyperkeratosis OMIM:144200 KRT9 3857 HP:0007559 Localized epidermolytic hyperkeratosis OMIM:144200 KRT9 3857 HP:0003212 Increased IgE level OMIM:144200 KRT9 3857 HP:0000006 Autosomal dominant inheritance OMIM:614303 MIR184 406960 HP:0000505 Visual impairment OMIM:614303 MIR184 406960 HP:0000006 Autosomal dominant inheritance OMIM:614303 MIR184 406960 HP:0000482 Microcornea OMIM:614303 MIR184 406960 HP:0000483 Astigmatism ORPHANET:1429 NKX2-1 7080 HP:0001288 Gait disturbance OMIM:210600 ATR 545 HP:0000581 Blepharophimosis OMIM:210600 ATR 545 HP:0000678 Dental crowding OMIM:210600 ATR 545 HP:0002827 Hip dislocation OMIM:210600 ATR 545 HP:0006297 Hypoplasia of dental enamel OMIM:210600 ATR 545 HP:0001320 Cerebellar vermis hypoplasia OMIM:210600 ATR 545 HP:0001511 Intrauterine growth retardation OMIM:210600 ATR 545 HP:0006143 Abnormal finger flexion creases OMIM:210600 ATR 545 HP:0003508 Proportionate short stature OMIM:210600 ATR 545 HP:0000347 Micrognathia OMIM:210600 ATR 545 HP:0000007 Autosomal recessive inheritance OMIM:210600 ATR 545 HP:0006442 Hypoplasia of proximal fibula OMIM:210600 ATR 545 HP:0002650 Scoliosis OMIM:210600 ATR 545 HP:0001763 Pes planus OMIM:210600 ATR 545 HP:0000377 Abnormality of the pinna OMIM:210600 ATR 545 HP:0000954 Single transverse palmar crease OMIM:210600 ATR 545 HP:0001302 Pachygyria OMIM:210600 ATR 545 HP:0000237 Small anterior fontanelle OMIM:210600 ATR 545 HP:0003083 Dislocated radial head OMIM:210600 ATR 545 HP:0000752 Hyperactivity OMIM:210600 ATR 545 HP:0001249 Intellectual disability OMIM:210600 ATR 545 HP:0000252 Microcephaly OMIM:210600 ATR 545 HP:0000047 Hypospadias OMIM:210600 ATR 545 HP:0000689 Dental malocclusion OMIM:210600 ATR 545 HP:0000028 Cryptorchidism OMIM:210600 ATR 545 HP:0007048 Large basal ganglia OMIM:210600 ATR 545 HP:0000218 High palate OMIM:210600 ATR 545 HP:0004209 Clinodactyly of the 5th finger OMIM:210600 ATR 545 HP:0000448 Prominent nose OMIM:210600 ATR 545 HP:0000324 Facial asymmetry OMIM:210600 ATR 545 HP:0001883 Talipes OMIM:210600 ATR 545 HP:0000175 Cleft palate OMIM:210600 ATR 545 HP:0002750 Delayed skeletal maturation OMIM:210600 ATR 545 HP:0001852 Sandal gap OMIM:210600 ATR 545 HP:0000340 Sloping forehead OMIM:210600 ATR 545 HP:0010230 Cone-shaped epiphyses of the phalanges of the hand OMIM:210600 ATR 545 HP:0000444 Convex nasal ridge OMIM:210600 ATR 545 HP:0000486 Strabismus OMIM:210600 ATR 545 HP:0001090 Large eyes OMIM:210600 ATR 545 HP:0001592 Selective tooth agenesis OMIM:210600 ATR 545 HP:0000369 Low-set ears OMIM:210600 ATR 545 HP:0006434 Hypoplasia of proximal radius OMIM:210600 ATR 545 HP:0001250 Seizures OMIM:210600 ATR 545 HP:0000878 11 pairs of ribs OMIM:210600 ATR 545 HP:0001876 Pancytopenia OMIM:210600 ATR 545 HP:0000494 Downslanted palpebral fissures OMIM:210600 ATR 545 HP:0002987 Elbow flexion contracture OMIM:210600 ATR 545 HP:0000057 Clitoromegaly OMIM:210600 ATR 545 HP:0010583 Ivory epiphyses OMIM:614417 CPA6 57094 HP:0001250 Seizures OMIM:614417 CPA6 57094 HP:0000006 Autosomal dominant inheritance OMIM:612287 SLC9A3R1 9368 HP:0002659 Increased susceptibility to fractures OMIM:612287 SLC9A3R1 9368 HP:0003109 Hyperphosphaturia OMIM:612287 SLC9A3R1 9368 HP:0000006 Autosomal dominant inheritance OMIM:612287 SLC9A3R1 9368 HP:0000787 Nephrolithiasis OMIM:612287 SLC9A3R1 9368 HP:0000117 Renal phosphate wasting OMIM:612287 SLC9A3R1 9368 HP:0002148 Hypophosphatemia OMIM:612287 SLC9A3R1 9368 HP:0000938 Osteopenia OMIM:612287 SLC9A3R1 9368 HP:0000939 Osteoporosis OMIM:190685 GATA1 2623 HP:0000405 Conductive hearing impairment OMIM:190685 GATA1 2623 HP:0000286 Epicanthus OMIM:190685 GATA1 2623 HP:0003467 Atlantoaxial instability OMIM:190685 GATA1 2623 HP:0003745 Sporadic OMIM:190685 GATA1 2623 HP:0001169 Broad palm OMIM:190685 GATA1 2623 HP:0000582 Upslanted palpebral fissure OMIM:190685 GATA1 2623 HP:0002023 Anal atresia OMIM:190685 GATA1 2623 HP:0001674 Complete atrioventricular canal defect OMIM:190685 GATA1 2623 HP:0000474 Thickened nuchal skin fold OMIM:190685 GATA1 2623 HP:0000158 Macroglossia OMIM:190685 GATA1 2623 HP:0002251 Aganglionic megacolon OMIM:190685 GATA1 2623 HP:0002511 Alzheimer disease OMIM:190685 GATA1 2623 HP:0001088 Brushfield spots OMIM:190685 GATA1 2623 HP:0000821 Hypothyroidism OMIM:190685 GATA1 2623 HP:0004220 Short middle phalanx of the 5th finger OMIM:190685 GATA1 2623 HP:0003182 Shallow acetabular fossae OMIM:190685 GATA1 2623 HP:0000272 Malar flattening OMIM:190685 GATA1 2623 HP:0002866 Hypoplastic iliac wing OMIM:190685 GATA1 2623 HP:0100867 Duodenal stenosis OMIM:190685 GATA1 2623 HP:0010808 Protruding tongue OMIM:190685 GATA1 2623 HP:0008551 Microtia OMIM:190685 GATA1 2623 HP:0005547 Myeloproliferative disorder OMIM:190685 GATA1 2623 HP:0001252 Muscular hypotonia OMIM:190685 GATA1 2623 HP:0001249 Intellectual disability OMIM:190685 GATA1 2623 HP:0001388 Joint laxity OMIM:190685 GATA1 2623 HP:0006733 Acute megakaryocytic leukemia OMIM:190685 GATA1 2623 HP:0012368 Flat face OMIM:190685 GATA1 2623 HP:0000248 Brachycephaly OMIM:190685 GATA1 2623 HP:0000954 Single transverse palmar crease OMIM:190685 GATA1 2623 HP:0004322 Short stature OMIM:190685 GATA1 2623 HP:0004279 Short palm OMIM:615328 COG6 57511 HP:0000966 Hypohidrosis OMIM:615328 COG6 57511 HP:0003577 Congenital onset OMIM:615328 COG6 57511 HP:0000972 Palmoplantar hyperkeratosis OMIM:615328 COG6 57511 HP:0000007 Autosomal recessive inheritance OMIM:615328 COG6 57511 HP:0006297 Hypoplasia of dental enamel OMIM:615328 COG6 57511 HP:0000670 Carious teeth OMIM:615328 COG6 57511 HP:0000252 Microcephaly OMIM:615328 COG6 57511 HP:0001249 Intellectual disability OMIM:615328 COG6 57511 HP:0000750 Delayed speech and language development OMIM:608099 SGCA 6442 HP:0006785 Limb-girdle muscular dystrophy OMIM:608099 SGCA 6442 HP:0003621 Juvenile onset OMIM:608099 SGCA 6442 HP:0000007 Autosomal recessive inheritance OMIM:608099 SGCA 6442 HP:0003676 Progressive disorder OMIM:608099 SGCA 6442 HP:0003236 Elevated serum creatine phosphokinase OMIM:608099 SGCA 6442 HP:0003458 EMG: myopathic abnormalities OMIM:608099 SGCA 6442 HP:0001371 Flexion contracture OMIM:608099 SGCA 6442 HP:0008981 Calf muscle hypertrophy OMIM:608099 SGCA 6442 HP:0003828 Variable expressivity OMIM:608099 SGCA 6442 HP:0001638 Cardiomyopathy OMIM:608099 SGCA 6442 HP:0003797 Limb-girdle muscle atrophy OMIM:608099 SGCA 6442 HP:0003325 Limb-girdle muscle weakness OMIM:608099 SGCA 6442 HP:0002650 Scoliosis OMIM:608099 SGCA 6442 HP:0002317 Unsteady gait ORPHANET:1329 NR2F2 7026 HP:0001671 Abnormality of the cardiac septa OMIM:173100 GH1 2688 HP:0000824 Growth hormone deficiency OMIM:173100 GH1 2688 HP:0000006 Autosomal dominant inheritance OMIM:173100 GH1 2688 HP:0003510 Severe short stature OMIM:173100 GH1 2688 HP:0000839 Pituitary dwarfism OMIM:616335 TUBGCP4 27229 HP:0001145 Chorioretinopathy OMIM:616335 TUBGCP4 27229 HP:0001263 Global developmental delay OMIM:616335 TUBGCP4 27229 HP:0000568 Microphthalmos OMIM:616335 TUBGCP4 27229 HP:0001999 Abnormal facial shape OMIM:616335 TUBGCP4 27229 HP:0000252 Microcephaly OMIM:616335 TUBGCP4 27229 HP:0000639 Nystagmus OMIM:616335 TUBGCP4 27229 HP:0000505 Visual impairment OMIM:604320 IGHMBP2 3508 HP:0002398 Degeneration of anterior horn cells OMIM:604320 IGHMBP2 3508 HP:0005348 Inspiratory stridor OMIM:604320 IGHMBP2 3508 HP:0003693 Distal amyotrophy OMIM:604320 IGHMBP2 3508 HP:0002019 Constipation OMIM:604320 IGHMBP2 3508 HP:0001518 Small for gestational age OMIM:604320 IGHMBP2 3508 HP:0001558 Decreased fetal movement OMIM:604320 IGHMBP2 3508 HP:0001511 Intrauterine growth retardation OMIM:604320 IGHMBP2 3508 HP:0009109 Denervation of the diaphragm OMIM:604320 IGHMBP2 3508 HP:0000764 Peripheral axonal degeneration OMIM:604320 IGHMBP2 3508 HP:0002789 Tachypnea OMIM:604320 IGHMBP2 3508 HP:0100490 Camptodactyly of finger OMIM:604320 IGHMBP2 3508 HP:0000762 Decreased nerve conduction velocity OMIM:604320 IGHMBP2 3508 HP:0003445 EMG: neuropathic changes OMIM:604320 IGHMBP2 3508 HP:0002878 Respiratory failure OMIM:604320 IGHMBP2 3508 HP:0005946 Ventilator dependence with inability to wean OMIM:604320 IGHMBP2 3508 HP:0009110 Diaphragmatic eventration OMIM:604320 IGHMBP2 3508 HP:0003690 Limb muscle weakness OMIM:604320 IGHMBP2 3508 HP:0002460 Distal muscle weakness OMIM:604320 IGHMBP2 3508 HP:0007269 Spinal muscular atrophy OMIM:604320 IGHMBP2 3508 HP:0001612 Weak cry OMIM:604320 IGHMBP2 3508 HP:0000975 Hyperhidrosis OMIM:604320 IGHMBP2 3508 HP:0000020 Urinary incontinence OMIM:604320 IGHMBP2 3508 HP:0001508 Failure to thrive OMIM:604320 IGHMBP2 3508 HP:0001762 Talipes equinovarus OMIM:604320 IGHMBP2 3508 HP:0001265 Hyporeflexia OMIM:604320 IGHMBP2 3508 HP:0006597 Diaphragmatic paralysis OMIM:604320 IGHMBP2 3508 HP:0001622 Premature birth OMIM:604320 IGHMBP2 3508 HP:0000007 Autosomal recessive inheritance OMIM:312170 PDHA1 5160 HP:0003593 Infantile onset OMIM:312170 PDHA1 5160 HP:0003348 Hyperalaninemia OMIM:312170 PDHA1 5160 HP:0002490 Increased CSF lactate OMIM:312170 PDHA1 5160 HP:0002928 Decreased activity of the pyruvate dehydrogenase (PDH) complex OMIM:312170 PDHA1 5160 HP:0001999 Abnormal facial shape OMIM:312170 PDHA1 5160 HP:0006799 Basal ganglia cysts OMIM:312170 PDHA1 5160 HP:0004900 Severe lactic acidosis OMIM:312170 PDHA1 5160 HP:0001263 Global developmental delay OMIM:312170 PDHA1 5160 HP:0002007 Frontal bossing OMIM:312170 PDHA1 5160 HP:0000496 Abnormality of eye movement OMIM:312170 PDHA1 5160 HP:0001518 Small for gestational age OMIM:312170 PDHA1 5160 HP:0002059 Cerebral atrophy OMIM:312170 PDHA1 5160 HP:0001249 Intellectual disability OMIM:312170 PDHA1 5160 HP:0002119 Ventriculomegaly OMIM:312170 PDHA1 5160 HP:0001254 Lethargy OMIM:312170 PDHA1 5160 HP:0002151 Increased serum lactate OMIM:312170 PDHA1 5160 HP:0000463 Anteverted nares OMIM:312170 PDHA1 5160 HP:0001332 Dystonia OMIM:312170 PDHA1 5160 HP:0003812 Phenotypic variability OMIM:312170 PDHA1 5160 HP:0000508 Ptosis OMIM:312170 PDHA1 5160 HP:0004925 Chronic lactic acidosis OMIM:312170 PDHA1 5160 HP:0000454 Flared nostrils OMIM:312170 PDHA1 5160 HP:0000343 Long philtrum OMIM:312170 PDHA1 5160 HP:0001266 Choreoathetosis OMIM:312170 PDHA1 5160 HP:0001252 Muscular hypotonia OMIM:312170 PDHA1 5160 HP:0001250 Seizures OMIM:312170 PDHA1 5160 HP:0000252 Microcephaly OMIM:312170 PDHA1 5160 HP:0001274 Agenesis of corpus callosum OMIM:312170 PDHA1 5160 HP:0002872 Apneic episodes precipitated by illness, fatigue, stress OMIM:312170 PDHA1 5160 HP:0000431 Wide nasal bridge OMIM:312170 PDHA1 5160 HP:0002131 Episodic ataxia OMIM:312170 PDHA1 5160 HP:0001423 X-linked dominant inheritance OMIM:604367 PPP1R3A 5506 HP:0100603 Toxemia of pregnancy OMIM:604367 PPP1R3A 5506 HP:0002155 Hypertriglyceridemia OMIM:604367 PPP1R3A 5506 HP:0003635 Loss of subcutaneous adipose tissue in limbs OMIM:604367 PPP1R3A 5506 HP:0000819 Diabetes mellitus OMIM:604367 PPP1R3A 5506 HP:0002149 Hyperuricemia OMIM:604367 PPP1R3A 5506 HP:0003011 Abnormality of the musculature OMIM:604367 PPP1R3A 5506 HP:0000006 Autosomal dominant inheritance OMIM:604367 PPP1R3A 5506 HP:0003233 Hypoalphalipoproteinemia OMIM:604367 PPP1R3A 5506 HP:0000822 Hypertension OMIM:604367 PPP1R3A 5506 HP:0100602 Preeclampsia OMIM:604367 PPP1R3A 5506 HP:0000998 Hypertrichosis OMIM:604367 PPP1R3A 5506 HP:0001002 Decreased subcutaneous fat OMIM:604367 PPP1R3A 5506 HP:0000147 Polycystic ovaries OMIM:604367 PPP1R3A 5506 HP:0000140 Abnormality of the menstrual cycle OMIM:604367 PPP1R3A 5506 HP:0000831 Insulin-resistant diabetes mellitus OMIM:604367 PPP1R3A 5506 HP:0001394 Cirrhosis OMIM:604367 PPP1R3A 5506 HP:0003119 Abnormality of lipid metabolism OMIM:604367 PPP1R3A 5506 HP:0001677 Coronary artery disease OMIM:604367 PPP1R3A 5506 HP:0001397 Hepatic steatosis OMIM:604367 PPP1R3A 5506 HP:0000786 Primary amenorrhea OMIM:604367 PPP1R3A 5506 HP:0000956 Acanthosis nigricans OMIM:604367 PPP1R3A 5506 HP:0009800 Maternal diabetes OMIM:604367 PPP1R3A 5506 HP:0000876 Oligomenorrhea OMIM:604367 PPP1R3A 5506 HP:0000271 Abnormality of the face OMIM:604367 PPP1R3A 5506 HP:0001015 Prominent superficial veins OMIM:604367 PPP1R3A 5506 HP:0009017 Loss of gluteal subcutaneous adipose tissue OMIM:604367 PPP1R3A 5506 HP:0001007 Hirsutism OMIM:604367 PPP1R3A 5506 HP:0009125 Lipodystrophy OMIM:604367 PPP1R3A 5506 HP:0003074 Hyperglycemia OMIM:604367 PPP1R3A 5506 HP:0000842 Hyperinsulinemia OMIM:604367 PPP1R3A 5506 HP:0000855 Insulin resistance OMIM:604367 PPP1R3A 5506 HP:0000464 Abnormality of the neck OMIM:604367 PPARG 5468 HP:0100603 Toxemia of pregnancy OMIM:604367 PPARG 5468 HP:0002155 Hypertriglyceridemia OMIM:604367 PPARG 5468 HP:0003635 Loss of subcutaneous adipose tissue in limbs OMIM:604367 PPARG 5468 HP:0000819 Diabetes mellitus OMIM:604367 PPARG 5468 HP:0002149 Hyperuricemia OMIM:604367 PPARG 5468 HP:0003011 Abnormality of the musculature OMIM:604367 PPARG 5468 HP:0000006 Autosomal dominant inheritance OMIM:604367 PPARG 5468 HP:0003233 Hypoalphalipoproteinemia OMIM:604367 PPARG 5468 HP:0000822 Hypertension OMIM:604367 PPARG 5468 HP:0100602 Preeclampsia OMIM:604367 PPARG 5468 HP:0000998 Hypertrichosis OMIM:604367 PPARG 5468 HP:0001002 Decreased subcutaneous fat OMIM:604367 PPARG 5468 HP:0000147 Polycystic ovaries OMIM:604367 PPARG 5468 HP:0000140 Abnormality of the menstrual cycle OMIM:604367 PPARG 5468 HP:0000831 Insulin-resistant diabetes mellitus OMIM:604367 PPARG 5468 HP:0001394 Cirrhosis OMIM:604367 PPARG 5468 HP:0003119 Abnormality of lipid metabolism OMIM:604367 PPARG 5468 HP:0001677 Coronary artery disease OMIM:604367 PPARG 5468 HP:0001397 Hepatic steatosis OMIM:604367 PPARG 5468 HP:0000786 Primary amenorrhea OMIM:604367 PPARG 5468 HP:0000956 Acanthosis nigricans OMIM:604367 PPARG 5468 HP:0009800 Maternal diabetes OMIM:604367 PPARG 5468 HP:0000876 Oligomenorrhea OMIM:604367 PPARG 5468 HP:0000271 Abnormality of the face OMIM:604367 PPARG 5468 HP:0001015 Prominent superficial veins OMIM:604367 PPARG 5468 HP:0009017 Loss of gluteal subcutaneous adipose tissue OMIM:604367 PPARG 5468 HP:0001007 Hirsutism OMIM:604367 PPARG 5468 HP:0009125 Lipodystrophy OMIM:604367 PPARG 5468 HP:0003074 Hyperglycemia OMIM:604367 PPARG 5468 HP:0000842 Hyperinsulinemia OMIM:604367 PPARG 5468 HP:0000855 Insulin resistance OMIM:604367 PPARG 5468 HP:0000464 Abnormality of the neck OMIM:615552 SCN11A 11280 HP:0002459 Dysautonomia OMIM:615552 SCN11A 11280 HP:0000006 Autosomal dominant inheritance OMIM:609322 SMARCB1 6598 HP:0100021 Cerebral palsy OMIM:609322 SMARCB1 6598 HP:0004374 Hemiplegia/hemiparesis OMIM:609322 SMARCB1 6598 HP:0001250 Seizures OMIM:609322 SMARCB1 6598 HP:0002311 Incoordination OMIM:609322 SMARCB1 6598 HP:0001324 Muscle weakness OMIM:609322 SMARCB1 6598 HP:0006824 Cranial nerve paralysis OMIM:609322 SMARCB1 6598 HP:0000238 Hydrocephalus OMIM:609322 SMARCB1 6598 HP:0002885 Medulloblastoma OMIM:609322 SMARCB1 6598 HP:0000006 Autosomal dominant inheritance OMIM:609322 SMARCB1 6598 HP:0001376 Limitation of joint mobility OMIM:609322 SMARCB1 6598 HP:0002017 Nausea and vomiting OMIM:609322 SMARCB1 6598 HP:0002514 Cerebral calcification OMIM:609322 SMARCB1 6598 HP:0004375 Neoplasm of the nervous system OMIM:609322 SMARCB1 6598 HP:0030392 Choroid plexus carcinoma OMIM:609322 SMARCB1 6598 HP:0000256 Macrocephaly OMIM:609322 SMARCB1 6598 HP:0002076 Migraine OMIM:609322 SMARCB1 6598 HP:0002360 Sleep disturbance OMIM:607473 VKORC1 79001 HP:0012201 Reduced prothrombin activity OMIM:607473 VKORC1 79001 HP:0008169 Reduced factor VII activity OMIM:607473 VKORC1 79001 HP:0001892 Abnormal bleeding OMIM:607473 VKORC1 79001 HP:0011858 Reduced factor IX activity OMIM:607473 VKORC1 79001 HP:0008321 Reduced factor X activity OMIM:607473 VKORC1 79001 HP:0000007 Autosomal recessive inheritance OMIM:102500 NOTCH2 4853 HP:0001799 Short nail OMIM:102500 NOTCH2 4853 HP:0000343 Long philtrum OMIM:102500 NOTCH2 4853 HP:0000494 Downslanted palpebral fissures OMIM:102500 NOTCH2 4853 HP:0000047 Hypospadias OMIM:102500 NOTCH2 4853 HP:0006180 Crowded carpal bones OMIM:102500 NOTCH2 4853 HP:0002688 Absent frontal sinuses OMIM:102500 NOTCH2 4853 HP:0000006 Autosomal dominant inheritance OMIM:102500 NOTCH2 4853 HP:0000938 Osteopenia OMIM:102500 NOTCH2 4853 HP:0005463 Elongated sella turcica OMIM:102500 NOTCH2 4853 HP:0004322 Short stature OMIM:102500 NOTCH2 4853 HP:0009748 Large earlobe OMIM:102500 NOTCH2 4853 HP:0000664 Synophrys OMIM:102500 NOTCH2 4853 HP:0000293 Full cheeks OMIM:102500 NOTCH2 4853 HP:0000527 Long eyelashes OMIM:102500 NOTCH2 4853 HP:0000939 Osteoporosis OMIM:102500 NOTCH2 4853 HP:0000574 Thick eyebrow OMIM:102500 NOTCH2 4853 HP:0000107 Renal cyst OMIM:102500 NOTCH2 4853 HP:0002645 Wormian bones OMIM:102500 NOTCH2 4853 HP:0000347 Micrognathia OMIM:102500 NOTCH2 4853 HP:0001388 Joint laxity OMIM:102500 NOTCH2 4853 HP:0000463 Anteverted nares OMIM:102500 NOTCH2 4853 HP:0005758 Basilar impression OMIM:102500 NOTCH2 4853 HP:0000506 Telecanthus OMIM:102500 NOTCH2 4853 HP:0000028 Cryptorchidism OMIM:102500 NOTCH2 4853 HP:0001007 Hirsutism OMIM:102500 NOTCH2 4853 HP:0006480 Premature loss of teeth OMIM:102500 NOTCH2 4853 HP:0000405 Conductive hearing impairment OMIM:102500 NOTCH2 4853 HP:0000280 Coarse facial features OMIM:102500 NOTCH2 4853 HP:0000286 Epicanthus OMIM:102500 NOTCH2 4853 HP:0003083 Dislocated radial head OMIM:102500 NOTCH2 4853 HP:0000445 Wide nose OMIM:102500 NOTCH2 4853 HP:0008421 Tall lumbar vertebral bodies OMIM:102500 NOTCH2 4853 HP:0008462 Cervical instability OMIM:102500 NOTCH2 4853 HP:0002857 Genu valgum OMIM:102500 NOTCH2 4853 HP:0001671 Abnormality of the cardiac septa OMIM:102500 NOTCH2 4853 HP:0001842 Acroosteolysis (feet) OMIM:102500 NOTCH2 4853 HP:0002756 Pathologic fracture OMIM:102500 NOTCH2 4853 HP:0002566 Intestinal malrotation OMIM:102500 NOTCH2 4853 HP:0001537 Umbilical hernia OMIM:102500 NOTCH2 4853 HP:0000238 Hydrocephalus OMIM:102500 NOTCH2 4853 HP:0000470 Short neck OMIM:102500 NOTCH2 4853 HP:0000218 High palate OMIM:102500 NOTCH2 4853 HP:0002953 Vertebral compression fractures OMIM:102500 NOTCH2 4853 HP:0004586 Biconcave vertebral bodies OMIM:102500 NOTCH2 4853 HP:0000689 Dental malocclusion OMIM:102500 NOTCH2 4853 HP:0001508 Failure to thrive OMIM:102500 NOTCH2 4853 HP:0001643 Patent ductus arteriosus OMIM:102500 NOTCH2 4853 HP:0000023 Inguinal hernia OMIM:102500 NOTCH2 4853 HP:0002751 Kyphoscoliosis OMIM:102500 NOTCH2 4853 HP:0000369 Low-set ears OMIM:102500 NOTCH2 4853 HP:0009771 Osteolytic defects of the phalanges of the hand OMIM:601820 KCNJ11 3767 HP:0000007 Autosomal recessive inheritance OMIM:601820 KCNJ11 3767 HP:0001520 Large for gestational age OMIM:601820 KCNJ11 3767 HP:0004510 Pancreatic islet-cell hyperplasia OMIM:601820 KCNJ11 3767 HP:0001943 Hypoglycemia OMIM:601820 KCNJ11 3767 HP:0000825 Hyperinsulinemic hypoglycemia OMIM:611302 KIF1C 10749 HP:0001310 Dysmetria OMIM:611302 KIF1C 10749 HP:0002380 Fasciculations OMIM:611302 KIF1C 10749 HP:0001272 Cerebellar atrophy OMIM:611302 KIF1C 10749 HP:0003693 Distal amyotrophy OMIM:611302 KIF1C 10749 HP:0003676 Progressive disorder OMIM:611302 KIF1C 10749 HP:0001257 Spasticity OMIM:611302 KIF1C 10749 HP:0002359 Frequent falls OMIM:611302 KIF1C 10749 HP:0003487 Babinski sign OMIM:611302 KIF1C 10749 HP:0000666 Horizontal nystagmus OMIM:611302 KIF1C 10749 HP:0001347 Hyperreflexia OMIM:611302 KIF1C 10749 HP:0002599 Head titubation OMIM:611302 KIF1C 10749 HP:0002497 Spastic ataxia OMIM:611302 KIF1C 10749 HP:0000007 Autosomal recessive inheritance OMIM:611302 KIF1C 10749 HP:0002066 Gait ataxia OMIM:611302 KIF1C 10749 HP:0001260 Dysarthria OMIM:616079 ITM2B 9445 HP:0000613 Photophobia OMIM:616079 ITM2B 9445 HP:0000662 Night blindness OMIM:616079 ITM2B 9445 HP:0000543 Optic disc pallor OMIM:616079 ITM2B 9445 HP:0000556 Retinal dystrophy OMIM:314980 ZFX 7543 HP:0001417 X-linked inheritance OMIM:124200 ATP2A2 488 HP:0011801 Enlargement of parotid gland OMIM:124200 ATP2A2 488 HP:0100753 Schizophrenia OMIM:124200 ATP2A2 488 HP:0000982 Palmoplantar keratoderma OMIM:124200 ATP2A2 488 HP:0001250 Seizures OMIM:124200 ATP2A2 488 HP:0001034 Hypermelanotic macule OMIM:124200 ATP2A2 488 HP:0001256 Intellectual disability, mild OMIM:124200 ATP2A2 488 HP:0200016 Acrokeratosis OMIM:124200 ATP2A2 488 HP:0000989 Pruritus OMIM:124200 ATP2A2 488 HP:0010612 Plantar pits OMIM:124200 ATP2A2 488 HP:0001807 Ridged nail OMIM:124200 ATP2A2 488 HP:0008066 Abnormal blistering of the skin OMIM:124200 ATP2A2 488 HP:0001597 Abnormality of the nail OMIM:124200 ATP2A2 488 HP:0008410 Subungual hyperkeratotic fragments OMIM:124200 ATP2A2 488 HP:0010610 Palmar pits OMIM:124200 ATP2A2 488 HP:0000006 Autosomal dominant inheritance OMIM:124200 ATP2A2 488 HP:0007302 Bipolar affective disorder OMIM:614929 KRT74 121391 HP:0001806 Onycholysis OMIM:614929 KRT74 121391 HP:0000653 Sparse eyelashes OMIM:614929 KRT74 121391 HP:0001810 Dystrophic toenail OMIM:614929 KRT74 121391 HP:0000007 Autosomal recessive inheritance OMIM:614929 KRT74 121391 HP:0000535 Sparse eyebrow OMIM:614929 KRT74 121391 HP:0008391 Dystrophic fingernails OMIM:614929 KRT74 121391 HP:0007436 Hair-nail ectodermal dysplasia OMIM:614929 KRT74 121391 HP:0001006 Hypotrichosis OMIM:614929 KRT74 121391 HP:0002299 Brittle hair OMIM:604317 WDR62 284403 HP:0002282 Heterotopia OMIM:604317 WDR62 284403 HP:0001249 Intellectual disability OMIM:604317 WDR62 284403 HP:0002079 Hypoplasia of the corpus callosum OMIM:604317 WDR62 284403 HP:0000007 Autosomal recessive inheritance OMIM:604317 WDR62 284403 HP:0000718 Aggressive behavior OMIM:604317 WDR62 284403 HP:0009879 Cortical gyral simplification OMIM:604317 WDR62 284403 HP:0000750 Delayed speech and language development OMIM:604317 WDR62 284403 HP:0001558 Decreased fetal movement OMIM:604317 WDR62 284403 HP:0001269 Hemiparesis OMIM:604317 WDR62 284403 HP:0001339 Lissencephaly OMIM:604317 WDR62 284403 HP:0001285 Spastic tetraparesis OMIM:604317 WDR62 284403 HP:0000752 Hyperactivity OMIM:604317 WDR62 284403 HP:0001302 Pachygyria OMIM:604317 WDR62 284403 HP:0000340 Sloping forehead OMIM:604317 WDR62 284403 HP:0001250 Seizures OMIM:604317 WDR62 284403 HP:0010636 Schizencephaly OMIM:604317 WDR62 284403 HP:0001347 Hyperreflexia OMIM:604317 WDR62 284403 HP:0002126 Polymicrogyria OMIM:604317 WDR62 284403 HP:0000252 Microcephaly OMIM:604317 WDR62 284403 HP:0001263 Global developmental delay OMIM:604317 WDR62 284403 HP:0100710 Impulsivity OMIM:604317 WDR62 284403 HP:0003577 Congenital onset OMIM:615278 KRAS 3845 HP:0000218 High palate OMIM:615278 KRAS 3845 HP:0001634 Mitral valve prolapse OMIM:615278 KRAS 3845 HP:0000508 Ptosis OMIM:615278 KRAS 3845 HP:0000358 Posteriorly rotated ears OMIM:615278 KRAS 3845 HP:0003477 Peripheral axonal neuropathy OMIM:615278 KRAS 3845 HP:0000369 Low-set ears OMIM:615278 KRAS 3845 HP:0000463 Anteverted nares OMIM:615278 KRAS 3845 HP:0001263 Global developmental delay OMIM:615278 KRAS 3845 HP:0002213 Fine hair OMIM:615278 KRAS 3845 HP:0000545 Myopia OMIM:615278 KRAS 3845 HP:0002212 Curly hair OMIM:615278 KRAS 3845 HP:0000006 Autosomal dominant inheritance OMIM:615278 KRAS 3845 HP:0000280 Coarse facial features OMIM:615278 KRAS 3845 HP:0008070 Sparse hair OMIM:615278 KRAS 3845 HP:0002223 Absent eyebrow OMIM:615278 KRAS 3845 HP:0000337 Broad forehead OMIM:614607 ARID1A 8289 HP:0002209 Sparse scalp hair OMIM:614607 ARID1A 8289 HP:0001249 Intellectual disability OMIM:614607 ARID1A 8289 HP:0000280 Coarse facial features OMIM:614607 ARID1A 8289 HP:0001273 Abnormality of the corpus callosum OMIM:614607 ARID1A 8289 HP:0200104 Absent fifth fingernail OMIM:614607 ARID1A 8289 HP:0000154 Wide mouth OMIM:614607 ARID1A 8289 HP:0000179 Thick lower lip vermilion OMIM:614607 ARID1A 8289 HP:0200105 Absent fifth toenail OMIM:614607 ARID1A 8289 HP:0000006 Autosomal dominant inheritance OMIM:614607 ARID1A 8289 HP:0011968 Feeding difficulties OMIM:614607 ARID1A 8289 HP:0002719 Recurrent infections OMIM:614607 ARID1A 8289 HP:0000527 Long eyelashes OMIM:602066 PRRT2 112476 HP:0007359 Focal seizures OMIM:602066 PRRT2 112476 HP:0002268 Paroxysmal dystonia OMIM:602066 PRRT2 112476 HP:0000733 Stereotypic behavior OMIM:602066 PRRT2 112476 HP:0007098 Paroxysmal choreoathetosis OMIM:602066 PRRT2 112476 HP:0000006 Autosomal dominant inheritance OMIM:602066 PRRT2 112476 HP:0001250 Seizures OMIM:602066 PRRT2 112476 HP:0002353 EEG abnormality OMIM:602066 PRRT2 112476 HP:0000739 Anxiety OMIM:602066 PRRT2 112476 HP:0002197 Generalized seizures OMIM:602066 PRRT2 112476 HP:0002372 Normal interictal EEG OMIM:602066 PRRT2 112476 HP:0002311 Incoordination OMIM:602066 PRRT2 112476 HP:0002076 Migraine OMIM:602066 PRRT2 112476 HP:0002072 Chorea OMIM:141900 HBB 3043 HP:0004810 Congenital hypoplastic anemia OMIM:141900 HBB 3043 HP:0011904 Persistence of hemoglobin F OMIM:141900 HBB 3043 HP:0000961 Cyanosis OMIM:141900 HBB 3043 HP:0001878 Hemolytic anemia OMIM:141900 HBB 3043 HP:0001901 Polycythemia OMIM:141900 HBB 3043 HP:0005511 Heinz body anemia OMIM:141900 HBB 3043 HP:0005524 Macrocytic hemolytic disease OMIM:141900 HBB 3043 HP:0001081 Cholelithiasis OMIM:141900 HBB 3043 HP:0001935 Microcytic anemia OMIM:141900 HBB 3043 HP:0200023 Priapism OMIM:141900 HBB 3043 HP:0004727 Impaired renal concentrating ability OMIM:141900 HBB 3043 HP:0010885 Aseptic necrosis OMIM:141900 HBB 3043 HP:0008346 Increased red cell sickling tendency OMIM:141900 HBB 3043 HP:0001744 Splenomegaly OMIM:141900 HBB 3043 HP:0000790 Hematuria OMIM:141900 HBB 3043 HP:0000952 Jaundice OMIM:141900 HBB 3043 HP:0002754 Osteomyelitis OMIM:609338 PPARG 5468 HP:0010982 Polygenic inheritance OMIM:609338 PPARG 5468 HP:0012273 Increased carotid artery intimal medial thickness OMIM:148820 PAX3 5077 HP:0003828 Variable expressivity OMIM:148820 PAX3 5077 HP:0002779 Tracheomalacia OMIM:148820 PAX3 5077 HP:0002251 Aganglionic megacolon OMIM:148820 PAX3 5077 HP:0002211 White forelock OMIM:148820 PAX3 5077 HP:0000303 Mandibular prognathia OMIM:148820 PAX3 5077 HP:0000252 Microcephaly OMIM:148820 PAX3 5077 HP:0000446 Narrow nasal bridge OMIM:148820 PAX3 5077 HP:0000635 Blue irides OMIM:148820 PAX3 5077 HP:0000426 Prominent nasal bridge OMIM:148820 PAX3 5077 HP:0100490 Camptodactyly of finger OMIM:148820 PAX3 5077 HP:0000365 Hearing impairment OMIM:148820 PAX3 5077 HP:0100543 Cognitive impairment OMIM:148820 PAX3 5077 HP:0001258 Spastic paraplegia OMIM:148820 PAX3 5077 HP:0000007 Autosomal recessive inheritance OMIM:148820 PAX3 5077 HP:0000506 Telecanthus OMIM:148820 PAX3 5077 HP:0000581 Blepharophimosis OMIM:148820 PAX3 5077 HP:0010554 Cutaneous finger syndactyly OMIM:148820 PAX3 5077 HP:0001631 Defect in the atrial septum OMIM:148820 PAX3 5077 HP:0007443 Partial albinism OMIM:148820 PAX3 5077 HP:0000494 Downslanted palpebral fissures OMIM:148820 PAX3 5077 HP:0002216 Premature graying of hair OMIM:148820 PAX3 5077 HP:0009702 Carpal synostosis OMIM:148820 PAX3 5077 HP:0001156 Brachydactyly syndrome OMIM:148820 PAX3 5077 HP:0001249 Intellectual disability OMIM:148820 PAX3 5077 HP:0006101 Finger syndactyly OMIM:148820 PAX3 5077 HP:0003691 Scapular winging OMIM:148820 PAX3 5077 HP:0001053 Hypopigmented skin patches OMIM:148820 PAX3 5077 HP:0000407 Sensorineural hearing impairment OMIM:148820 PAX3 5077 HP:0000574 Thick eyebrow OMIM:148820 PAX3 5077 HP:0100750 Atelectasis OMIM:148820 PAX3 5077 HP:0000664 Synophrys OMIM:148820 PAX3 5077 HP:0030084 Clinodactyly OMIM:148820 PAX3 5077 HP:0000431 Wide nasal bridge OMIM:148820 PAX3 5077 HP:0001276 Hypertonia OMIM:148820 PAX3 5077 HP:0001452 Autosomal dominant contiguous gene syndrome OMIM:148820 PAX3 5077 HP:0010804 Tented upper lip vermilion OMIM:148820 PAX3 5077 HP:0005599 Hypopigmentation of hair OMIM:148820 PAX3 5077 HP:0005048 Synostosis of carpal bones OMIM:148820 PAX3 5077 HP:0001063 Acrocyanosis OMIM:148820 PAX3 5077 HP:0001100 Heterochromia iridis OMIM:148820 PAX3 5077 HP:0001376 Limitation of joint mobility OMIM:221750 LHX3 8022 HP:0004322 Short stature OMIM:221750 LHX3 8022 HP:0008213 Gonadotropin deficiency OMIM:221750 LHX3 8022 HP:0001249 Intellectual disability OMIM:221750 LHX3 8022 HP:0000839 Pituitary dwarfism OMIM:221750 LHX3 8022 HP:0000470 Short neck OMIM:221750 LHX3 8022 HP:0000824 Growth hormone deficiency OMIM:221750 LHX3 8022 HP:0000407 Sensorineural hearing impairment OMIM:221750 LHX3 8022 HP:0010627 Anterior pituitary hypoplasia OMIM:221750 LHX3 8022 HP:0000078 Abnormality of the genital system OMIM:221750 LHX3 8022 HP:0000007 Autosomal recessive inheritance OMIM:185800 NOG 9241 HP:0001204 Distal symphalangism (hands) OMIM:185800 NOG 9241 HP:0000405 Conductive hearing impairment OMIM:185800 NOG 9241 HP:0010194 Aplasia/Hypoplasia of the middle phalanges of the toes OMIM:185800 NOG 9241 HP:0000381 Stapes ankylosis OMIM:185800 NOG 9241 HP:0008368 Tarsal synostosis OMIM:185800 NOG 9241 HP:0005880 Metacarpophalangeal synostosis OMIM:185800 NOG 9241 HP:0010047 Short 5th metacarpal OMIM:185800 NOG 9241 HP:0009843 Aplasia/Hypoplasia of the middle phalanges of the hand OMIM:185800 NOG 9241 HP:0009702 Carpal synostosis OMIM:185800 NOG 9241 HP:0006152 Proximal symphalangism (hands) OMIM:185800 NOG 9241 HP:0000006 Autosomal dominant inheritance OMIM:615226 ZNF141 7700 HP:0001162 Postaxial hand polydactyly OMIM:615226 ZNF141 7700 HP:0000007 Autosomal recessive inheritance ORPHANET:2953 DSE 29940 HP:0100542 Abnormal localization of kidney ORPHANET:2953 DSE 29940 HP:0100543 Cognitive impairment ORPHANET:2953 DSE 29940 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:2953 DSE 29940 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2953 DSE 29940 HP:0001883 Talipes ORPHANET:2953 DSE 29940 HP:0001629 Ventricular septal defect ORPHANET:2953 DSE 29940 HP:0001679 Abnormality of the aorta ORPHANET:2953 DSE 29940 HP:0001631 Defect in the atrial septum ORPHANET:2953 DSE 29940 HP:0001166 Arachnodactyly ORPHANET:2953 DSE 29940 HP:0002714 Downturned corners of mouth ORPHANET:2953 DSE 29940 HP:0001181 Adducted thumb ORPHANET:2953 CHST14 113189 HP:0100542 Abnormal localization of kidney ORPHANET:2953 CHST14 113189 HP:0100543 Cognitive impairment ORPHANET:2953 CHST14 113189 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:2953 CHST14 113189 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2953 CHST14 113189 HP:0001883 Talipes ORPHANET:2953 CHST14 113189 HP:0001629 Ventricular septal defect ORPHANET:2953 CHST14 113189 HP:0001679 Abnormality of the aorta ORPHANET:2953 CHST14 113189 HP:0001631 Defect in the atrial septum ORPHANET:2953 CHST14 113189 HP:0001166 Arachnodactyly ORPHANET:2953 CHST14 113189 HP:0002714 Downturned corners of mouth ORPHANET:2953 CHST14 113189 HP:0001181 Adducted thumb OMIM:105830 CDKL5 6792 HP:0000157 Abnormality of the tongue OMIM:105830 CDKL5 6792 HP:0001344 Absent speech OMIM:105830 CDKL5 6792 HP:0000687 Widely spaced teeth OMIM:105830 CDKL5 6792 HP:0001010 Hypopigmentation of the skin OMIM:105830 CDKL5 6792 HP:0005484 Postnatal microcephaly OMIM:105830 CDKL5 6792 HP:0001250 Seizures OMIM:105830 CDKL5 6792 HP:0000154 Wide mouth OMIM:105830 CDKL5 6792 HP:0000486 Strabismus OMIM:105830 CDKL5 6792 HP:0100543 Cognitive impairment OMIM:105830 CDKL5 6792 HP:0002167 Neurological speech impairment OMIM:105830 CDKL5 6792 HP:0200085 Limb tremor OMIM:105830 CDKL5 6792 HP:0001347 Hyperreflexia OMIM:105830 CDKL5 6792 HP:0001270 Motor delay OMIM:105830 CDKL5 6792 HP:0010808 Protruding tongue OMIM:105830 CDKL5 6792 HP:0001513 Obesity OMIM:105830 CDKL5 6792 HP:0001252 Muscular hypotonia OMIM:105830 CDKL5 6792 HP:0010864 Intellectual disability, severe OMIM:105830 CDKL5 6792 HP:0000327 Hypoplasia of the maxilla OMIM:105830 CDKL5 6792 HP:0002311 Incoordination OMIM:105830 CDKL5 6792 HP:0006887 Intellectual disability, progressive OMIM:105830 CDKL5 6792 HP:0002120 Cerebral cortical atrophy OMIM:105830 CDKL5 6792 HP:0002650 Scoliosis OMIM:105830 CDKL5 6792 HP:0005469 Flat occiput OMIM:105830 CDKL5 6792 HP:0002312 Clumsiness OMIM:105830 CDKL5 6792 HP:0000272 Malar flattening OMIM:105830 CDKL5 6792 HP:0003745 Sporadic OMIM:105830 CDKL5 6792 HP:0002136 Broad-based gait OMIM:105830 CDKL5 6792 HP:0002353 EEG abnormality OMIM:105830 CDKL5 6792 HP:0006979 Sleep-wake cycle disturbance OMIM:105830 CDKL5 6792 HP:0000577 Exotropia OMIM:105830 CDKL5 6792 HP:0002286 Fair hair OMIM:105830 CDKL5 6792 HP:0000490 Deeply set eye OMIM:105830 CDKL5 6792 HP:0000708 Behavioral abnormality OMIM:105830 CDKL5 6792 HP:0000639 Nystagmus OMIM:105830 CDKL5 6792 HP:0007240 Progressive gait ataxia OMIM:105830 CDKL5 6792 HP:0000303 Mandibular prognathia OMIM:105830 CDKL5 6792 HP:0008872 Feeding difficulties in infancy OMIM:105830 CDKL5 6792 HP:0001263 Global developmental delay OMIM:105830 CDKL5 6792 HP:0000635 Blue irides OMIM:105830 CDKL5 6792 HP:0000545 Myopia OMIM:105830 CDKL5 6792 HP:0000164 Abnormality of the teeth OMIM:105830 CDKL5 6792 HP:0000248 Brachycephaly OMIM:105830 CDKL5 6792 HP:0002019 Constipation OMIM:105830 CDKL5 6792 HP:0004299 Hernia of the abdominal wall OMIM:105830 CDKL5 6792 HP:0000752 Hyperactivity OMIM:105830 CDKL5 6792 HP:0000749 Paroxysmal bursts of laughter OMIM:105830 CDKL5 6792 HP:0000006 Autosomal dominant inheritance OMIM:105830 CDKL5 6792 HP:0002307 Drooling OMIM:105830 CDKL5 6792 HP:0000158 Macroglossia OMIM:105830 MECP2 4204 HP:0000157 Abnormality of the tongue OMIM:105830 MECP2 4204 HP:0001344 Absent speech OMIM:105830 MECP2 4204 HP:0000687 Widely spaced teeth OMIM:105830 MECP2 4204 HP:0001010 Hypopigmentation of the skin OMIM:105830 MECP2 4204 HP:0005484 Postnatal microcephaly OMIM:105830 MECP2 4204 HP:0001250 Seizures OMIM:105830 MECP2 4204 HP:0000154 Wide mouth OMIM:105830 MECP2 4204 HP:0000486 Strabismus OMIM:105830 MECP2 4204 HP:0100543 Cognitive impairment OMIM:105830 MECP2 4204 HP:0002167 Neurological speech impairment OMIM:105830 MECP2 4204 HP:0200085 Limb tremor OMIM:105830 MECP2 4204 HP:0001347 Hyperreflexia OMIM:105830 MECP2 4204 HP:0001270 Motor delay OMIM:105830 MECP2 4204 HP:0010808 Protruding tongue OMIM:105830 MECP2 4204 HP:0001513 Obesity OMIM:105830 MECP2 4204 HP:0001252 Muscular hypotonia OMIM:105830 MECP2 4204 HP:0010864 Intellectual disability, severe OMIM:105830 MECP2 4204 HP:0000327 Hypoplasia of the maxilla OMIM:105830 MECP2 4204 HP:0002311 Incoordination OMIM:105830 MECP2 4204 HP:0006887 Intellectual disability, progressive OMIM:105830 MECP2 4204 HP:0002120 Cerebral cortical atrophy OMIM:105830 MECP2 4204 HP:0002650 Scoliosis OMIM:105830 MECP2 4204 HP:0005469 Flat occiput OMIM:105830 MECP2 4204 HP:0002312 Clumsiness OMIM:105830 MECP2 4204 HP:0000272 Malar flattening OMIM:105830 MECP2 4204 HP:0003745 Sporadic OMIM:105830 MECP2 4204 HP:0002136 Broad-based gait OMIM:105830 MECP2 4204 HP:0002353 EEG abnormality OMIM:105830 MECP2 4204 HP:0006979 Sleep-wake cycle disturbance OMIM:105830 MECP2 4204 HP:0000577 Exotropia OMIM:105830 MECP2 4204 HP:0002286 Fair hair OMIM:105830 MECP2 4204 HP:0000490 Deeply set eye OMIM:105830 MECP2 4204 HP:0000708 Behavioral abnormality OMIM:105830 MECP2 4204 HP:0000639 Nystagmus OMIM:105830 MECP2 4204 HP:0007240 Progressive gait ataxia OMIM:105830 MECP2 4204 HP:0000303 Mandibular prognathia OMIM:105830 MECP2 4204 HP:0008872 Feeding difficulties in infancy OMIM:105830 MECP2 4204 HP:0001263 Global developmental delay OMIM:105830 MECP2 4204 HP:0000635 Blue irides OMIM:105830 MECP2 4204 HP:0000545 Myopia OMIM:105830 MECP2 4204 HP:0000164 Abnormality of the teeth OMIM:105830 MECP2 4204 HP:0000248 Brachycephaly OMIM:105830 MECP2 4204 HP:0002019 Constipation OMIM:105830 MECP2 4204 HP:0004299 Hernia of the abdominal wall OMIM:105830 MECP2 4204 HP:0000752 Hyperactivity OMIM:105830 MECP2 4204 HP:0000749 Paroxysmal bursts of laughter OMIM:105830 MECP2 4204 HP:0000006 Autosomal dominant inheritance OMIM:105830 MECP2 4204 HP:0002307 Drooling OMIM:105830 MECP2 4204 HP:0000158 Macroglossia OMIM:105830 UBE3A 7337 HP:0000157 Abnormality of the tongue OMIM:105830 UBE3A 7337 HP:0001344 Absent speech OMIM:105830 UBE3A 7337 HP:0000687 Widely spaced teeth OMIM:105830 UBE3A 7337 HP:0001010 Hypopigmentation of the skin OMIM:105830 UBE3A 7337 HP:0005484 Postnatal microcephaly OMIM:105830 UBE3A 7337 HP:0001250 Seizures OMIM:105830 UBE3A 7337 HP:0000154 Wide mouth OMIM:105830 UBE3A 7337 HP:0000486 Strabismus OMIM:105830 UBE3A 7337 HP:0100543 Cognitive impairment OMIM:105830 UBE3A 7337 HP:0002167 Neurological speech impairment OMIM:105830 UBE3A 7337 HP:0200085 Limb tremor OMIM:105830 UBE3A 7337 HP:0001347 Hyperreflexia OMIM:105830 UBE3A 7337 HP:0001270 Motor delay OMIM:105830 UBE3A 7337 HP:0010808 Protruding tongue OMIM:105830 UBE3A 7337 HP:0001513 Obesity OMIM:105830 UBE3A 7337 HP:0001252 Muscular hypotonia OMIM:105830 UBE3A 7337 HP:0010864 Intellectual disability, severe OMIM:105830 UBE3A 7337 HP:0000327 Hypoplasia of the maxilla OMIM:105830 UBE3A 7337 HP:0002311 Incoordination OMIM:105830 UBE3A 7337 HP:0006887 Intellectual disability, progressive OMIM:105830 UBE3A 7337 HP:0002120 Cerebral cortical atrophy OMIM:105830 UBE3A 7337 HP:0002650 Scoliosis OMIM:105830 UBE3A 7337 HP:0005469 Flat occiput OMIM:105830 UBE3A 7337 HP:0002312 Clumsiness OMIM:105830 UBE3A 7337 HP:0000272 Malar flattening OMIM:105830 UBE3A 7337 HP:0003745 Sporadic OMIM:105830 UBE3A 7337 HP:0002136 Broad-based gait OMIM:105830 UBE3A 7337 HP:0002353 EEG abnormality OMIM:105830 UBE3A 7337 HP:0006979 Sleep-wake cycle disturbance OMIM:105830 UBE3A 7337 HP:0000577 Exotropia OMIM:105830 UBE3A 7337 HP:0002286 Fair hair OMIM:105830 UBE3A 7337 HP:0000490 Deeply set eye OMIM:105830 UBE3A 7337 HP:0000708 Behavioral abnormality OMIM:105830 UBE3A 7337 HP:0000639 Nystagmus OMIM:105830 UBE3A 7337 HP:0007240 Progressive gait ataxia OMIM:105830 UBE3A 7337 HP:0000303 Mandibular prognathia OMIM:105830 UBE3A 7337 HP:0008872 Feeding difficulties in infancy OMIM:105830 UBE3A 7337 HP:0001263 Global developmental delay OMIM:105830 UBE3A 7337 HP:0000635 Blue irides OMIM:105830 UBE3A 7337 HP:0000545 Myopia OMIM:105830 UBE3A 7337 HP:0000164 Abnormality of the teeth OMIM:105830 UBE3A 7337 HP:0000248 Brachycephaly OMIM:105830 UBE3A 7337 HP:0002019 Constipation OMIM:105830 UBE3A 7337 HP:0004299 Hernia of the abdominal wall OMIM:105830 UBE3A 7337 HP:0000752 Hyperactivity OMIM:105830 UBE3A 7337 HP:0000749 Paroxysmal bursts of laughter OMIM:105830 UBE3A 7337 HP:0000006 Autosomal dominant inheritance OMIM:105830 UBE3A 7337 HP:0002307 Drooling OMIM:105830 UBE3A 7337 HP:0000158 Macroglossia OMIM:216550 VPS13B 157680 HP:0001557 Prenatal movement abnormality OMIM:216550 VPS13B 157680 HP:0000347 Micrognathia OMIM:216550 VPS13B 157680 HP:0000494 Downslanted palpebral fissures OMIM:216550 VPS13B 157680 HP:0001763 Pes planus OMIM:216550 VPS13B 157680 HP:0001250 Seizures OMIM:216550 VPS13B 157680 HP:0002857 Genu valgum OMIM:216550 VPS13B 157680 HP:0009804 Reduced number of teeth OMIM:216550 VPS13B 157680 HP:0000294 Low anterior hairline OMIM:216550 VPS13B 157680 HP:0000444 Convex nasal ridge OMIM:216550 VPS13B 157680 HP:0001601 Laryngomalacia OMIM:216550 VPS13B 157680 HP:0001634 Mitral valve prolapse OMIM:216550 VPS13B 157680 HP:0010295 Aplasia/Hypoplasia of the tongue OMIM:216550 VPS13B 157680 HP:0001135 Chorioretinal dystrophy OMIM:216550 VPS13B 157680 HP:0000612 Iris coloboma OMIM:216550 VPS13B 157680 HP:0000767 Pectus excavatum OMIM:216550 VPS13B 157680 HP:0001321 Cerebellar hypoplasia OMIM:216550 VPS13B 157680 HP:0000322 Short philtrum OMIM:216550 VPS13B 157680 HP:0001252 Muscular hypotonia OMIM:216550 VPS13B 157680 HP:0000028 Cryptorchidism OMIM:216550 VPS13B 157680 HP:0001182 Tapered finger OMIM:216550 VPS13B 157680 HP:0002943 Thoracic scoliosis OMIM:216550 VPS13B 157680 HP:0000212 Gingival overgrowth OMIM:216550 VPS13B 157680 HP:0001319 Neonatal hypotonia OMIM:216550 VPS13B 157680 HP:0007703 Abnormal retinal pigmentation OMIM:216550 VPS13B 157680 HP:0100543 Cognitive impairment OMIM:216550 VPS13B 157680 HP:0000194 Open mouth OMIM:216550 VPS13B 157680 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:216550 VPS13B 157680 HP:0000327 Hypoplasia of the maxilla OMIM:216550 VPS13B 157680 HP:0000252 Microcephaly OMIM:216550 VPS13B 157680 HP:0001166 Arachnodactyly OMIM:216550 VPS13B 157680 HP:0000648 Optic atrophy OMIM:216550 VPS13B 157680 HP:0001875 Neutropenia OMIM:216550 VPS13B 157680 HP:0006101 Finger syndactyly OMIM:216550 VPS13B 157680 HP:0002808 Kyphosis OMIM:216550 VPS13B 157680 HP:0000824 Growth hormone deficiency OMIM:216550 VPS13B 157680 HP:0001513 Obesity OMIM:216550 VPS13B 157680 HP:0002167 Neurological speech impairment OMIM:216550 VPS13B 157680 HP:0004283 Narrow palm OMIM:216550 VPS13B 157680 HP:0001572 Macrodontia OMIM:216550 VPS13B 157680 HP:0001629 Ventricular septal defect OMIM:216550 VPS13B 157680 HP:0000499 Abnormality of the eyelashes OMIM:216550 VPS13B 157680 HP:0000545 Myopia OMIM:216550 VPS13B 157680 HP:0009906 Aplasia/Hypoplasia of the earlobes OMIM:216550 VPS13B 157680 HP:0000486 Strabismus OMIM:216550 VPS13B 157680 HP:0001874 Abnormality of neutrophils OMIM:216550 VPS13B 157680 HP:0001511 Intrauterine growth retardation OMIM:216550 VPS13B 157680 HP:0001518 Small for gestational age OMIM:216550 VPS13B 157680 HP:0000639 Nystagmus OMIM:216550 VPS13B 157680 HP:0008915 Childhood-onset truncal obesity OMIM:216550 VPS13B 157680 HP:0010049 Short metacarpal OMIM:216550 VPS13B 157680 HP:0000007 Autosomal recessive inheritance OMIM:216550 VPS13B 157680 HP:0000426 Prominent nasal bridge OMIM:216550 VPS13B 157680 HP:0001382 Joint hypermobility OMIM:216550 VPS13B 157680 HP:0000954 Single transverse palmar crease OMIM:216550 VPS13B 157680 HP:0004209 Clinodactyly of the 5th finger OMIM:216550 VPS13B 157680 HP:0004322 Short stature OMIM:216550 VPS13B 157680 HP:0001852 Sandal gap OMIM:216550 VPS13B 157680 HP:0007074 Thick corpus callosum OMIM:216550 VPS13B 157680 HP:0002938 Lumbar hyperlordosis OMIM:216550 VPS13B 157680 HP:0000384 Preauricular skin tag OMIM:216550 VPS13B 157680 HP:0001270 Motor delay OMIM:216550 VPS13B 157680 HP:0003272 Abnormality of the hip bone OMIM:216550 VPS13B 157680 HP:0001608 Abnormality of the voice OMIM:216550 VPS13B 157680 HP:0000407 Sensorineural hearing impairment OMIM:216550 VPS13B 157680 HP:0002967 Cubitus valgus OMIM:216550 VPS13B 157680 HP:0010669 Cheekbone underdevelopment OMIM:216550 VPS13B 157680 HP:0000532 Chorioretinal abnormality OMIM:216550 VPS13B 157680 HP:0000297 Facial hypotonia OMIM:216550 VPS13B 157680 HP:0010743 Short metatarsal OMIM:216550 VPS13B 157680 HP:0001633 Abnormality of the mitral valve OMIM:216550 VPS13B 157680 HP:0000675 Macrodontia of permanent maxillary central incisor OMIM:216550 VPS13B 157680 HP:0000823 Delayed puberty OMIM:216550 VPS13B 157680 HP:0000505 Visual impairment OMIM:216550 VPS13B 157680 HP:0000574 Thick eyebrow OMIM:216550 VPS13B 157680 HP:0002208 Coarse hair OMIM:216550 VPS13B 157680 HP:0002705 High, narrow palate OMIM:216550 VPS13B 157680 HP:0008872 Feeding difficulties in infancy OMIM:216550 VPS13B 157680 HP:0001882 Leukopenia OMIM:216550 VPS13B 157680 HP:0000174 Abnormality of the palate OMIM:216550 VPS13B 157680 HP:0001249 Intellectual disability OMIM:216550 VPS13B 157680 HP:0010511 Long toe OMIM:610283 SEMA4A 64218 HP:0000608 Macular degeneration OMIM:610283 SEMA4A 64218 HP:0001000 Abnormality of skin pigmentation OMIM:610283 SEMA4A 64218 HP:0000007 Autosomal recessive inheritance OMIM:610283 SEMA4A 64218 HP:0000662 Night blindness OMIM:610283 SEMA4A 64218 HP:0000613 Photophobia OMIM:610283 SEMA4A 64218 HP:0000529 Progressive visual loss OMIM:610283 SEMA4A 64218 HP:0009926 Increased lacrimation OMIM:610283 SEMA4A 64218 HP:0000548 Cone-rod dystrophy OMIM:610283 SEMA4A 64218 HP:0000510 Retinitis pigmentosa OMIM:615468 MALT1 10892 HP:0000939 Osteoporosis OMIM:615468 MALT1 10892 HP:0002718 Recurrent bacterial infections OMIM:615468 MALT1 10892 HP:0004429 Recurrent viral infections OMIM:615468 MALT1 10892 HP:0001510 Growth delay OMIM:615468 MALT1 10892 HP:0002721 Immunodeficiency OMIM:615468 MALT1 10892 HP:0002750 Delayed skeletal maturation OMIM:615468 MALT1 10892 HP:0000007 Autosomal recessive inheritance OMIM:266150 PC 5091 HP:0001249 Intellectual disability OMIM:266150 PC 5091 HP:0003542 Increased serum pyruvate OMIM:266150 PC 5091 HP:0003348 Hyperalaninemia OMIM:266150 PC 5091 HP:0003128 Lactic acidosis OMIM:266150 PC 5091 HP:0002049 Proximal renal tubular acidosis OMIM:266150 PC 5091 HP:0001263 Global developmental delay OMIM:266150 PC 5091 HP:0007190 Neuronal loss in the cerebral cortex OMIM:266150 PC 5091 HP:0006970 Periventricular leukomalacia OMIM:266150 PC 5091 HP:0000007 Autosomal recessive inheritance OMIM:266150 PC 5091 HP:0001252 Muscular hypotonia OMIM:266150 PC 5091 HP:0002169 Clonus OMIM:266150 PC 5091 HP:0002151 Increased serum lactate OMIM:266150 PC 5091 HP:0001250 Seizures OMIM:266150 PC 5091 HP:0002240 Hepatomegaly OMIM:266150 PC 5091 HP:0001943 Hypoglycemia OMIM:266150 PC 5091 HP:0003577 Congenital onset OMIM:611489 SERPINA6 866 HP:0003812 Phenotypic variability OMIM:611489 SERPINA6 866 HP:0003750 Increased muscle fatiguability OMIM:611489 SERPINA6 866 HP:0002615 Hypotension OMIM:611489 SERPINA6 866 HP:0001939 Abnormality of metabolism/homeostasis OMIM:611489 SERPINA6 866 HP:0000822 Hypertension OMIM:611489 SERPINA6 866 HP:0000007 Autosomal recessive inheritance OMIM:611489 SERPINA6 866 HP:0000006 Autosomal dominant inheritance OMIM:613265 EDN3 1908 HP:0002216 Premature graying of hair OMIM:613265 EDN3 1908 HP:0002226 White eyebrow OMIM:613265 EDN3 1908 HP:0001100 Heterochromia iridis OMIM:613265 EDN3 1908 HP:0002251 Aganglionic megacolon OMIM:613265 EDN3 1908 HP:0001053 Hypopigmented skin patches OMIM:613265 EDN3 1908 HP:0001425 Heterogeneous OMIM:613265 EDN3 1908 HP:0000407 Sensorineural hearing impairment OMIM:613265 EDN3 1908 HP:0002227 White eyelashes OMIM:613265 EDN3 1908 HP:0000007 Autosomal recessive inheritance OMIM:613265 EDN3 1908 HP:0002211 White forelock OMIM:613265 EDN3 1908 HP:0000006 Autosomal dominant inheritance OMIM:613265 EDN3 1908 HP:0000635 Blue irides ORPHANET:79254 PAH 5053 HP:0100679 Lack of skin elasticity ORPHANET:79254 PAH 5053 HP:0001337 Tremor ORPHANET:79254 PAH 5053 HP:0100716 Self-injurious behavior ORPHANET:79254 PAH 5053 HP:0005599 Hypopigmentation of hair ORPHANET:79254 PAH 5053 HP:0007018 Attention deficit hyperactivity disorder ORPHANET:79254 PAH 5053 HP:0002514 Cerebral calcification ORPHANET:79254 PAH 5053 HP:0002354 Memory impairment ORPHANET:79254 PAH 5053 HP:0011362 Abnormal hair quantity ORPHANET:79254 PAH 5053 HP:0000964 Eczema ORPHANET:79254 PAH 5053 HP:0001250 Seizures ORPHANET:79254 PAH 5053 HP:0002017 Nausea and vomiting ORPHANET:79254 PAH 5053 HP:0000252 Microcephaly ORPHANET:79254 PAH 5053 HP:0000518 Cataract ORPHANET:79254 PAH 5053 HP:0004374 Hemiplegia/hemiparesis ORPHANET:79254 PAH 5053 HP:0001276 Hypertonia ORPHANET:79254 PAH 5053 HP:0001347 Hyperreflexia ORPHANET:79254 PAH 5053 HP:0000717 Autism ORPHANET:79254 PAH 5053 HP:0003355 Aminoaciduria OMIM:613013 PHOX2B 8929 HP:0000006 Autosomal dominant inheritance OMIM:613013 PHOX2B 8929 HP:0003005 Ganglioneuroma OMIM:613013 PHOX2B 8929 HP:0002251 Aganglionic megacolon OMIM:613013 PHOX2B 8929 HP:0006747 Ganglioneuroblastoma OMIM:612838 SCN1B 6324 HP:0000006 Autosomal dominant inheritance OMIM:612838 SCN1B 6324 HP:0001663 Ventricular fibrillation OMIM:612838 SCN1B 6324 HP:0011710 Bundle branch block OMIM:612838 SCN1B 6324 HP:0012251 ST segment elevation OMIM:614837 KISS1R 84634 HP:0008734 Decreased testicular size OMIM:614837 KISS1R 84634 HP:0000044 Hypogonadotrophic hypogonadism OMIM:614837 KISS1R 84634 HP:0000027 Azoospermia OMIM:614837 KISS1R 84634 HP:0000007 Autosomal recessive inheritance OMIM:614837 KISS1R 84634 HP:0002750 Delayed skeletal maturation OMIM:614837 KISS1R 84634 HP:0000054 Micropenis OMIM:614837 KISS1R 84634 HP:0000028 Cryptorchidism OMIM:614837 KISS1R 84634 HP:0000786 Primary amenorrhea OMIM:614837 KISS1R 84634 HP:0000458 Anosmia OMIM:614837 KISS1R 84634 HP:0000013 Hypoplasia of the uterus OMIM:614837 KISS1R 84634 HP:0000938 Osteopenia OMIM:609254 IQCB1 9657 HP:0003774 Stage 5 chronic kidney disease OMIM:609254 IQCB1 9657 HP:0000007 Autosomal recessive inheritance OMIM:609254 IQCB1 9657 HP:0000510 Retinitis pigmentosa OMIM:609254 IQCB1 9657 HP:0000090 Nephronophthisis OMIM:167000 AKT1 207 HP:0000006 Autosomal dominant inheritance OMIM:167000 AKT1 207 HP:0003002 Breast carcinoma OMIM:167000 AKT1 207 HP:0100621 Dysgerminoma OMIM:167000 AKT1 207 HP:0006774 Ovarian papillary adenocarcinoma OMIM:167000 AKT1 207 HP:0001939 Abnormality of metabolism/homeostasis OMIM:167000 PARK2 5071 HP:0000006 Autosomal dominant inheritance OMIM:167000 PARK2 5071 HP:0003002 Breast carcinoma OMIM:167000 PARK2 5071 HP:0100621 Dysgerminoma OMIM:167000 PARK2 5071 HP:0006774 Ovarian papillary adenocarcinoma OMIM:167000 PARK2 5071 HP:0001939 Abnormality of metabolism/homeostasis OMIM:167000 PIK3CA 5290 HP:0000006 Autosomal dominant inheritance OMIM:167000 PIK3CA 5290 HP:0003002 Breast carcinoma OMIM:167000 PIK3CA 5290 HP:0100621 Dysgerminoma OMIM:167000 PIK3CA 5290 HP:0006774 Ovarian papillary adenocarcinoma OMIM:167000 PIK3CA 5290 HP:0001939 Abnormality of metabolism/homeostasis OMIM:167000 CTNNB1 1499 HP:0000006 Autosomal dominant inheritance OMIM:167000 CTNNB1 1499 HP:0003002 Breast carcinoma OMIM:167000 CTNNB1 1499 HP:0100621 Dysgerminoma OMIM:167000 CTNNB1 1499 HP:0006774 Ovarian papillary adenocarcinoma OMIM:167000 CTNNB1 1499 HP:0001939 Abnormality of metabolism/homeostasis OMIM:167000 CDH1 999 HP:0000006 Autosomal dominant inheritance OMIM:167000 CDH1 999 HP:0003002 Breast carcinoma OMIM:167000 CDH1 999 HP:0100621 Dysgerminoma OMIM:167000 CDH1 999 HP:0006774 Ovarian papillary adenocarcinoma OMIM:167000 CDH1 999 HP:0001939 Abnormality of metabolism/homeostasis OMIM:614325 NRXN1 9378 HP:0010808 Protruding tongue OMIM:614325 NRXN1 9378 HP:0000154 Wide mouth OMIM:614325 NRXN1 9378 HP:0002019 Constipation OMIM:614325 NRXN1 9378 HP:0002650 Scoliosis OMIM:614325 NRXN1 9378 HP:0001642 Pulmonic stenosis OMIM:614325 NRXN1 9378 HP:0200134 Epileptic encephalopathy OMIM:614325 NRXN1 9378 HP:0011968 Feeding difficulties OMIM:614325 NRXN1 9378 HP:0010864 Intellectual disability, severe OMIM:614325 NRXN1 9378 HP:0001252 Muscular hypotonia OMIM:614325 NRXN1 9378 HP:0002136 Broad-based gait OMIM:614325 NRXN1 9378 HP:0002307 Drooling OMIM:614325 NRXN1 9378 HP:0000486 Strabismus OMIM:614325 NRXN1 9378 HP:0002883 Hyperventilation OMIM:614325 NRXN1 9378 HP:0000007 Autosomal recessive inheritance OMIM:614325 NRXN1 9378 HP:0002020 Gastroesophageal reflux OMIM:192315 TREX1 11277 HP:0009763 Limb pain OMIM:192315 TREX1 11277 HP:0003581 Adult onset OMIM:192315 TREX1 11277 HP:0000708 Behavioral abnormality OMIM:192315 TREX1 11277 HP:0000790 Hematuria OMIM:192315 TREX1 11277 HP:0001297 Stroke OMIM:192315 TREX1 11277 HP:0002518 Abnormality of the periventricular white matter OMIM:192315 TREX1 11277 HP:0000505 Visual impairment OMIM:192315 TREX1 11277 HP:0000501 Glaucoma OMIM:192315 TREX1 11277 HP:0000518 Cataract OMIM:192315 TREX1 11277 HP:0000726 Dementia OMIM:192315 TREX1 11277 HP:0001260 Dysarthria OMIM:192315 TREX1 11277 HP:0002637 Cerebral ischemia OMIM:192315 TREX1 11277 HP:0001269 Hemiparesis OMIM:192315 TREX1 11277 HP:0001437 Abnormality of the musculature of the lower limbs OMIM:192315 TREX1 11277 HP:0001413 Micronodular cirrhosis OMIM:192315 TREX1 11277 HP:0001250 Seizures OMIM:192315 TREX1 11277 HP:0000093 Proteinuria OMIM:192315 TREX1 11277 HP:0040049 Macular edema OMIM:192315 TREX1 11277 HP:0001146 Pigmentary retinal degeneration OMIM:192315 TREX1 11277 HP:0000573 Retinal hemorrhage OMIM:192315 TREX1 11277 HP:0001147 Retinal exudate OMIM:192315 TREX1 11277 HP:0002376 Developmental regression OMIM:192315 TREX1 11277 HP:0008046 Abnormality of the retinal vasculature OMIM:192315 TREX1 11277 HP:0002395 Lower limb hyperreflexia OMIM:192315 TREX1 11277 HP:0000006 Autosomal dominant inheritance OMIM:192315 TREX1 11277 HP:0007009 Central nervous system degeneration OMIM:192315 TREX1 11277 HP:0004374 Hemiplegia/hemiparesis OMIM:192315 TREX1 11277 HP:0001009 Telangiectasia OMIM:192315 TREX1 11277 HP:0002186 Apraxia OMIM:192315 TREX1 11277 HP:0002076 Migraine OMIM:192315 TREX1 11277 HP:0003565 Elevated erythrocyte sedimentation rate OMIM:192315 TREX1 11277 HP:0002167 Neurological speech impairment OMIM:192315 TREX1 11277 HP:0100022 Abnormality of movement OMIM:192315 TREX1 11277 HP:0007017 Progressive forgetfulness OMIM:192315 TREX1 11277 HP:0000112 Nephropathy OMIM:192315 TREX1 11277 HP:0003676 Progressive disorder OMIM:192315 TREX1 11277 HP:0002910 Elevated hepatic transaminases OMIM:192315 TREX1 11277 HP:0002311 Incoordination OMIM:192315 TREX1 11277 HP:0200029 Vasculitis in the skin OMIM:192315 TREX1 11277 HP:0000529 Progressive visual loss OMIM:192315 TREX1 11277 HP:0000488 Retinopathy OMIM:192315 TREX1 11277 HP:0200030 Punctate vasculitis skin lesions OMIM:158590 HSPB8 26353 HP:0009053 Distal lower limb muscle weakness OMIM:158590 HSPB8 26353 HP:0000006 Autosomal dominant inheritance OMIM:158590 HSPB8 26353 HP:0002600 Hyporeflexia of lower limbs OMIM:158590 HSPB8 26353 HP:0002601 Paresis of extensor muscles of the big toe OMIM:158590 HSPB8 26353 HP:0002522 Areflexia of lower limbs OMIM:158590 HSPB8 26353 HP:0003445 EMG: neuropathic changes OMIM:300373 AMER1 139285 HP:0100670 Rough bone trabeculation OMIM:300373 AMER1 139285 HP:0006784 Paranasal sinus hypoplasia OMIM:300373 AMER1 139285 HP:0010740 Osteopathia striata OMIM:300373 AMER1 139285 HP:0000193 Bifid uvula OMIM:300373 AMER1 139285 HP:0001555 Asymmetry of the thorax OMIM:300373 AMER1 139285 HP:0004493 Craniofacial hyperostosis OMIM:300373 AMER1 139285 HP:0002694 Sclerosis of skull base OMIM:300373 AMER1 139285 HP:0000405 Conductive hearing impairment OMIM:300373 AMER1 139285 HP:0008551 Microtia OMIM:300373 AMER1 139285 HP:0000347 Micrognathia OMIM:300373 AMER1 139285 HP:0002779 Tracheomalacia OMIM:300373 AMER1 139285 HP:0001611 Nasal speech OMIM:300373 AMER1 139285 HP:0000256 Macrocephaly OMIM:300373 AMER1 139285 HP:0003298 Spina bifida occulta OMIM:300373 AMER1 139285 HP:0000368 Low-set, posteriorly rotated ears OMIM:300373 AMER1 139285 HP:0000689 Dental malocclusion OMIM:300373 AMER1 139285 HP:0000750 Delayed speech and language development OMIM:300373 AMER1 139285 HP:0006610 Wide intermamillary distance OMIM:300373 AMER1 139285 HP:0005619 Thoracolumbar kyphosis OMIM:300373 AMER1 139285 HP:0000316 Hypertelorism OMIM:300373 AMER1 139285 HP:0010628 Facial palsy OMIM:300373 AMER1 139285 HP:0000678 Dental crowding OMIM:300373 AMER1 139285 HP:0000341 Narrow forehead OMIM:300373 AMER1 139285 HP:0000396 Overfolded helix OMIM:300373 AMER1 139285 HP:0001476 Delayed closure of the anterior fontanelle OMIM:300373 AMER1 139285 HP:0002650 Scoliosis OMIM:300373 AMER1 139285 HP:0001539 Omphalocele OMIM:300373 AMER1 139285 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:300373 AMER1 139285 HP:0000286 Epicanthus OMIM:300373 AMER1 139285 HP:0002007 Frontal bossing OMIM:300373 AMER1 139285 HP:0000885 Broad ribs OMIM:300373 AMER1 139285 HP:0000465 Webbed neck OMIM:300373 AMER1 139285 HP:0005464 Craniofacial osteosclerosis OMIM:300373 AMER1 139285 HP:0001631 Defect in the atrial septum OMIM:300373 AMER1 139285 HP:0000179 Thick lower lip vermilion OMIM:300373 AMER1 139285 HP:0001166 Arachnodactyly OMIM:300373 AMER1 139285 HP:0009473 Joint contracture of the hand OMIM:300373 AMER1 139285 HP:0000204 Cleft upper lip OMIM:300373 AMER1 139285 HP:0002104 Apnea OMIM:300373 AMER1 139285 HP:0001338 Partial agenesis of the corpus callosum OMIM:300373 AMER1 139285 HP:0002315 Headache OMIM:300373 AMER1 139285 HP:0001256 Intellectual disability, mild OMIM:300373 AMER1 139285 HP:0002990 Fibular aplasia OMIM:300373 AMER1 139285 HP:0001423 X-linked dominant inheritance OMIM:300373 AMER1 139285 HP:0002167 Neurological speech impairment OMIM:300373 AMER1 139285 HP:0002023 Anal atresia OMIM:300373 AMER1 139285 HP:0003038 Fibular hypoplasia OMIM:300373 AMER1 139285 HP:0000684 Delayed eruption of teeth OMIM:300373 AMER1 139285 HP:0000003 Multicystic kidney dysplasia OMIM:300373 AMER1 139285 HP:0000767 Pectus excavatum OMIM:300373 AMER1 139285 HP:0005830 Flexion contracture of toe OMIM:300373 AMER1 139285 HP:0004209 Clinodactyly of the 5th finger OMIM:300373 AMER1 139285 HP:0002025 Anal stenosis OMIM:300373 AMER1 139285 HP:0002020 Gastroesophageal reflux OMIM:300373 AMER1 139285 HP:0002514 Cerebral calcification OMIM:300373 AMER1 139285 HP:0000518 Cataract OMIM:300373 AMER1 139285 HP:0001762 Talipes equinovarus OMIM:300373 AMER1 139285 HP:0001679 Abnormality of the aorta OMIM:300373 AMER1 139285 HP:0001508 Failure to thrive OMIM:300373 AMER1 139285 HP:0000239 Large fontanelles OMIM:300373 AMER1 139285 HP:0000272 Malar flattening OMIM:300373 AMER1 139285 HP:0000218 High palate OMIM:300373 AMER1 139285 HP:0001252 Muscular hypotonia OMIM:300373 AMER1 139285 HP:0003307 Hyperlordosis OMIM:300373 AMER1 139285 HP:0002684 Thickened calvaria OMIM:300373 AMER1 139285 HP:0012385 Camptodactyly OMIM:300373 AMER1 139285 HP:0000175 Cleft palate OMIM:300373 AMER1 139285 HP:0006587 Straight clavicles OMIM:300373 AMER1 139285 HP:0000238 Hydrocephalus OMIM:300373 AMER1 139285 HP:0001643 Patent ductus arteriosus OMIM:300373 AMER1 139285 HP:0000431 Wide nasal bridge OMIM:300373 AMER1 139285 HP:0000695 Natal tooth OMIM:300373 AMER1 139285 HP:0001250 Seizures OMIM:300373 AMER1 139285 HP:0100543 Cognitive impairment OMIM:300373 AMER1 139285 HP:0004322 Short stature OMIM:300373 AMER1 139285 HP:0001562 Oligohydramnios OMIM:300373 AMER1 139285 HP:0005950 Laryngeal web OMIM:300373 AMER1 139285 HP:0002566 Intestinal malrotation OMIM:300373 AMER1 139285 HP:0001629 Ventricular septal defect OMIM:300373 AMER1 139285 HP:0000201 Pierre-Robin sequence OMIM:300373 AMER1 139285 HP:0001561 Polyhydramnios OMIM:614156 BLVRA 644 HP:0001081 Cholelithiasis OMIM:614156 BLVRA 644 HP:0000006 Autosomal dominant inheritance OMIM:614156 BLVRA 644 HP:0000007 Autosomal recessive inheritance OMIM:614156 BLVRA 644 HP:0001410 Decreased liver function OMIM:614156 BLVRA 644 HP:0001396 Cholestasis ORPHANET:1513 SOST 50964 HP:0004322 Short stature ORPHANET:1513 SOST 50964 HP:0000648 Optic atrophy ORPHANET:1513 SOST 50964 HP:0000256 Macrocephaly ORPHANET:1513 SOST 50964 HP:0000405 Conductive hearing impairment ORPHANET:1513 SOST 50964 HP:0005280 Depressed nasal bridge ORPHANET:1513 SOST 50964 HP:0000280 Coarse facial features ORPHANET:1513 SOST 50964 HP:0000772 Abnormality of the ribs ORPHANET:1513 SOST 50964 HP:0000413 Atresia of the external auditory canal ORPHANET:1513 SOST 50964 HP:0000277 Abnormality of the mandible ORPHANET:1513 SOST 50964 HP:0002007 Frontal bossing ORPHANET:1513 SOST 50964 HP:0100543 Cognitive impairment ORPHANET:1513 SOST 50964 HP:0004493 Craniofacial hyperostosis OMIM:230400 GALT 2592 HP:0100806 Sepsis OMIM:230400 GALT 2592 HP:0012024 Hypergalactosemia OMIM:230400 GALT 2592 HP:0002167 Neurological speech impairment OMIM:230400 GALT 2592 HP:0004349 Reduced bone mineral density OMIM:230400 GALT 2592 HP:0001942 Metabolic acidosis OMIM:230400 GALT 2592 HP:0001394 Cirrhosis OMIM:230400 GALT 2592 HP:0002014 Diarrhea OMIM:230400 GALT 2592 HP:0002240 Hepatomegaly OMIM:230400 GALT 2592 HP:0008209 Premature ovarian failure OMIM:230400 GALT 2592 HP:0001337 Tremor OMIM:230400 GALT 2592 HP:0004918 Hyperchloremic metabolic acidosis OMIM:230400 GALT 2592 HP:0001249 Intellectual disability OMIM:230400 GALT 2592 HP:0002013 Vomiting OMIM:230400 GALT 2592 HP:0001943 Hypoglycemia OMIM:230400 GALT 2592 HP:0000518 Cataract OMIM:230400 GALT 2592 HP:0012023 Galactosuria OMIM:230400 GALT 2592 HP:0004372 Reduced consciousness/confusion OMIM:230400 GALT 2592 HP:0001508 Failure to thrive OMIM:230400 GALT 2592 HP:0008872 Feeding difficulties in infancy OMIM:230400 GALT 2592 HP:0100543 Cognitive impairment OMIM:230400 GALT 2592 HP:0100626 Chronic hepatic failure OMIM:230400 GALT 2592 HP:0001410 Decreased liver function OMIM:230400 GALT 2592 HP:0000144 Decreased fertility OMIM:230400 GALT 2592 HP:0001878 Hemolytic anemia OMIM:230400 GALT 2592 HP:0001608 Abnormality of the voice OMIM:230400 GALT 2592 HP:0002311 Incoordination OMIM:230400 GALT 2592 HP:0000815 Hypergonadotropic hypogonadism OMIM:230400 GALT 2592 HP:0000007 Autosomal recessive inheritance OMIM:230400 GALT 2592 HP:0003355 Aminoaciduria OMIM:230400 GALT 2592 HP:0001824 Weight loss OMIM:614018 GOSR2 9570 HP:0002650 Scoliosis OMIM:614018 GOSR2 9570 HP:0002355 Difficulty walking OMIM:614018 GOSR2 9570 HP:0001337 Tremor OMIM:614018 GOSR2 9570 HP:0001284 Areflexia OMIM:614018 GOSR2 9570 HP:0001336 Myoclonus OMIM:614018 GOSR2 9570 HP:0010819 Atonic seizures OMIM:614018 GOSR2 9570 HP:0003236 Elevated serum creatine phosphokinase OMIM:614018 GOSR2 9570 HP:0001251 Ataxia OMIM:614018 GOSR2 9570 HP:0002121 Absence seizures OMIM:614018 GOSR2 9570 HP:0003676 Progressive disorder OMIM:614018 GOSR2 9570 HP:0000007 Autosomal recessive inheritance OMIM:614858 WDR11 55717 HP:0000028 Cryptorchidism OMIM:614858 WDR11 55717 HP:0000006 Autosomal dominant inheritance OMIM:614858 WDR11 55717 HP:0000786 Primary amenorrhea OMIM:614858 WDR11 55717 HP:0008734 Decreased testicular size OMIM:614858 WDR11 55717 HP:0000458 Anosmia OMIM:614881 DNAJB2 3300 HP:0001284 Areflexia OMIM:614881 DNAJB2 3300 HP:0003677 Slow progression OMIM:614881 DNAJB2 3300 HP:0009027 Foot dorsiflexor weakness OMIM:614881 DNAJB2 3300 HP:0001761 Pes cavus OMIM:614881 DNAJB2 3300 HP:0001288 Gait disturbance OMIM:614881 DNAJB2 3300 HP:0000007 Autosomal recessive inheritance OMIM:614881 DNAJB2 3300 HP:0007269 Spinal muscular atrophy OMIM:616188 TUB 7275 HP:0000505 Visual impairment OMIM:616188 TUB 7275 HP:0000541 Retinal detachment OMIM:616188 TUB 7275 HP:0001513 Obesity OMIM:616188 TUB 7275 HP:0000483 Astigmatism OMIM:616188 TUB 7275 HP:0000545 Myopia ORPHANET:314911 ASPA 443 HP:0000365 Hearing impairment ORPHANET:314911 ASPA 443 HP:0000648 Optic atrophy ORPHANET:314911 ASPA 443 HP:0100543 Cognitive impairment ORPHANET:314911 ASPA 443 HP:0002360 Sleep disturbance ORPHANET:314911 ASPA 443 HP:0001250 Seizures ORPHANET:314911 ASPA 443 HP:0008872 Feeding difficulties in infancy ORPHANET:314911 ASPA 443 HP:0000256 Macrocephaly ORPHANET:314911 ASPA 443 HP:0004372 Reduced consciousness/confusion ORPHANET:314911 ASPA 443 HP:0002353 EEG abnormality ORPHANET:314911 ASPA 443 HP:0000505 Visual impairment ORPHANET:314911 ASPA 443 HP:0001276 Hypertonia ORPHANET:314911 ASPA 443 HP:0000649 Abnormality of vision evoked potentials ORPHANET:314911 ASPA 443 HP:0001252 Muscular hypotonia OMIM:188550 PRKAR1A 5573 HP:0002895 Papillary thyroid carcinoma OMIM:188550 PRKAR1A 5573 HP:0000006 Autosomal dominant inheritance OMIM:188550 CCDC6 8030 HP:0002895 Papillary thyroid carcinoma OMIM:188550 CCDC6 8030 HP:0000006 Autosomal dominant inheritance OMIM:188550 NCOA4 8031 HP:0002895 Papillary thyroid carcinoma OMIM:188550 NCOA4 8031 HP:0000006 Autosomal dominant inheritance OMIM:188550 TRIM24 8805 HP:0002895 Papillary thyroid carcinoma OMIM:188550 TRIM24 8805 HP:0000006 Autosomal dominant inheritance OMIM:188550 GOLGA5 9950 HP:0002895 Papillary thyroid carcinoma OMIM:188550 GOLGA5 9950 HP:0000006 Autosomal dominant inheritance OMIM:188550 PCM1 5108 HP:0002895 Papillary thyroid carcinoma OMIM:188550 PCM1 5108 HP:0000006 Autosomal dominant inheritance OMIM:188550 TRIM33 51592 HP:0002895 Papillary thyroid carcinoma OMIM:188550 TRIM33 51592 HP:0000006 Autosomal dominant inheritance OMIM:614089 MYH6 4624 HP:0001684 Secundum atrial septal defect OMIM:614089 MYH6 4624 HP:0000006 Autosomal dominant inheritance OMIM:209900 BBS1 582 HP:0001159 Syndactyly OMIM:209900 BBS1 582 HP:0000510 Retinitis pigmentosa OMIM:209900 BBS1 582 HP:0000750 Delayed speech and language development OMIM:209900 BBS1 582 HP:0001513 Obesity OMIM:209900 BBS1 582 HP:0001395 Hepatic fibrosis OMIM:209900 BBS1 582 HP:0001829 Foot polydactyly OMIM:209900 BBS1 582 HP:0001712 Left ventricular hypertrophy OMIM:209900 BBS1 582 HP:0000218 High palate OMIM:209900 BBS1 582 HP:0001773 Short foot OMIM:209900 BBS1 582 HP:0000007 Autosomal recessive inheritance OMIM:209900 BBS1 582 HP:0000546 Retinal degeneration OMIM:209900 BBS1 582 HP:0000518 Cataract OMIM:209900 BBS1 582 HP:0000639 Nystagmus OMIM:209900 BBS1 582 HP:0000365 Hearing impairment OMIM:209900 BBS1 582 HP:0000148 Vaginal atresia OMIM:209900 BBS1 582 HP:0000256 Macrocephaly OMIM:209900 BBS1 582 HP:0000077 Abnormality of the kidney OMIM:209900 BBS1 582 HP:0001007 Hirsutism OMIM:209900 BBS1 582 HP:0001769 Broad foot OMIM:209900 BBS1 582 HP:0008734 Decreased testicular size OMIM:209900 BBS1 582 HP:0000137 Abnormality of the ovary OMIM:209900 BBS1 582 HP:0001251 Ataxia OMIM:209900 BBS1 582 HP:0000822 Hypertension OMIM:209900 BBS1 582 HP:0001249 Intellectual disability OMIM:209900 BBS1 582 HP:0001080 Biliary tract abnormality OMIM:209900 BBS1 582 HP:0009466 Radial deviation of finger OMIM:209900 BBS1 582 HP:0001162 Postaxial hand polydactyly OMIM:209900 BBS1 582 HP:0000483 Astigmatism OMIM:209900 BBS1 582 HP:0001156 Brachydactyly syndrome OMIM:209900 BBS1 582 HP:0002167 Neurological speech impairment OMIM:209900 BBS1 582 HP:0000054 Micropenis OMIM:209900 BBS1 582 HP:0009806 Nephrogenic diabetes insipidus OMIM:209900 BBS1 582 HP:0000501 Glaucoma OMIM:209900 BBS1 582 HP:0007707 Congenital primary aphakia OMIM:209900 BBS1 582 HP:0000556 Retinal dystrophy OMIM:209900 BBS1 582 HP:0000486 Strabismus OMIM:209900 BBS1 582 HP:0000668 Hypodontia OMIM:209900 BBS1 582 HP:0000678 Dental crowding OMIM:209900 BBS1 582 HP:0001263 Global developmental delay OMIM:209900 BBS1 582 HP:0000545 Myopia OMIM:209900 BBS1 582 HP:0001328 Specific learning disability OMIM:209900 BBS1 582 HP:0000135 Hypogonadism OMIM:209900 BBS1 582 HP:0002370 Poor coordination OMIM:209900 BBS1 582 HP:0002251 Aganglionic megacolon OMIM:209900 BBS1 582 HP:0002141 Gait imbalance OMIM:209900 BBS1 582 HP:0002099 Asthma OMIM:209900 BBS1 582 HP:0000819 Diabetes mellitus OMIM:601414 PRPF3 9129 HP:0007987 Progressive visual field defects OMIM:601414 PRPF3 9129 HP:0000662 Night blindness OMIM:601414 PRPF3 9129 HP:0000510 Retinitis pigmentosa OMIM:601414 PRPF3 9129 HP:0000006 Autosomal dominant inheritance OMIM:601414 PRPF3 9129 HP:0000575 Scotoma OMIM:601414 PRPF3 9129 HP:0008043 Retinal arteriolar constriction OMIM:228900 GDF5 8200 HP:0002992 Abnormality of the tibia OMIM:228900 GDF5 8200 HP:0010624 Aplastic/hypoplastic toenail OMIM:228900 GDF5 8200 HP:0002997 Abnormality of the ulna OMIM:228900 GDF5 8200 HP:0002999 Patellar dislocation OMIM:228900 GDF5 8200 HP:0005930 Abnormality of epiphysis morphology OMIM:228900 GDF5 8200 HP:0006092 Malaligned carpal bone OMIM:228900 GDF5 8200 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:228900 GDF5 8200 HP:0008905 Rhizomelia OMIM:228900 GDF5 8200 HP:0002990 Fibular aplasia OMIM:228900 GDF5 8200 HP:0001792 Small nail OMIM:228900 GDF5 8200 HP:0010743 Short metatarsal OMIM:228900 GDF5 8200 HP:0008368 Tarsal synostosis OMIM:228900 GDF5 8200 HP:0000007 Autosomal recessive inheritance OMIM:228900 GDF5 8200 HP:0009803 Short phalanx of finger OMIM:228900 GDF5 8200 HP:0004322 Short stature OMIM:228900 GDF5 8200 HP:0008119 Deformed tarsal bones OMIM:228900 GDF5 8200 HP:0001172 Abnormality of the thumb OMIM:228900 GDF5 8200 HP:0001156 Brachydactyly syndrome OMIM:228900 GDF5 8200 HP:0004097 Deviation of finger OMIM:228900 GDF5 8200 HP:0010760 Absent toe OMIM:228900 GDF5 8200 HP:0000446 Narrow nasal bridge OMIM:228900 GDF5 8200 HP:0010049 Short metacarpal OMIM:228900 GDF5 8200 HP:0002983 Micromelia OMIM:228900 GDF5 8200 HP:0005048 Synostosis of carpal bones OMIM:228900 GDF5 8200 HP:0001772 Talipes equinovalgus OMIM:228900 GDF5 8200 HP:0000954 Single transverse palmar crease OMIM:228900 GDF5 8200 HP:0003038 Fibular hypoplasia OMIM:228900 GDF5 8200 HP:0003272 Abnormality of the hip bone OMIM:228900 GDF5 8200 HP:0001376 Limitation of joint mobility OMIM:613697 PSEN2 5664 HP:0001644 Dilated cardiomyopathy OMIM:613697 PSEN2 5664 HP:0001279 Syncope OMIM:613697 PSEN2 5664 HP:0000006 Autosomal dominant inheritance OMIM:613697 PSEN2 5664 HP:0001635 Congestive heart failure OMIM:614025 LIPC 3990 HP:0001013 Eruptive xanthomas OMIM:614025 LIPC 3990 HP:0000007 Autosomal recessive inheritance OMIM:614025 LIPC 3990 HP:0001681 Angina pectoris OMIM:615434 ARL2BP 23568 HP:0000007 Autosomal recessive inheritance OMIM:615434 ARL2BP 23568 HP:0000510 Retinitis pigmentosa OMIM:615434 ARL2BP 23568 HP:0000543 Optic disc pallor OMIM:615434 ARL2BP 23568 HP:0001696 Situs inversus totalis OMIM:247100 ECM1 1893 HP:0008066 Abnormal blistering of the skin OMIM:247100 ECM1 1893 HP:0008872 Feeding difficulties in infancy OMIM:247100 ECM1 1893 HP:0000962 Hyperkeratosis OMIM:247100 ECM1 1893 HP:0000478 Abnormality of the eye OMIM:247100 ECM1 1893 HP:0010295 Aplasia/Hypoplasia of the tongue OMIM:247100 ECM1 1893 HP:0000179 Thick lower lip vermilion OMIM:247100 ECM1 1893 HP:0005671 Bilateral intracranial calcifications OMIM:247100 ECM1 1893 HP:0002205 Recurrent respiratory infections OMIM:247100 ECM1 1893 HP:0011999 Paranoia OMIM:247100 ECM1 1893 HP:0200043 Verrucae OMIM:247100 ECM1 1893 HP:0001608 Abnormality of the voice OMIM:247100 ECM1 1893 HP:0000951 Abnormality of the skin OMIM:247100 ECM1 1893 HP:0200039 Pustule OMIM:247100 ECM1 1893 HP:0000738 Hallucinations OMIM:247100 ECM1 1893 HP:0001609 Hoarse voice OMIM:247100 ECM1 1893 HP:0002514 Cerebral calcification OMIM:247100 ECM1 1893 HP:0000718 Aggressive behavior OMIM:247100 ECM1 1893 HP:0001250 Seizures OMIM:247100 ECM1 1893 HP:0002354 Memory impairment OMIM:247100 ECM1 1893 HP:0100582 Nasal polyposis OMIM:247100 ECM1 1893 HP:0000007 Autosomal recessive inheritance OMIM:247100 ECM1 1893 HP:0001061 Acne OMIM:247100 ECM1 1893 HP:0011362 Abnormal hair quantity OMIM:247100 ECM1 1893 HP:0000987 Atypical scarring of skin OMIM:247100 ECM1 1893 HP:0002232 Patchy alopecia OMIM:174200 GLI3 2737 HP:0001162 Postaxial hand polydactyly OMIM:105200 LYZ 4069 HP:0002240 Hepatomegaly OMIM:105200 LYZ 4069 HP:0000006 Autosomal dominant inheritance OMIM:105200 LYZ 4069 HP:0000822 Hypertension OMIM:105200 LYZ 4069 HP:0000093 Proteinuria OMIM:105200 LYZ 4069 HP:0000790 Hematuria OMIM:105200 LYZ 4069 HP:0000112 Nephropathy OMIM:105200 LYZ 4069 HP:0001396 Cholestasis OMIM:105200 LYZ 4069 HP:0000988 Skin rash OMIM:105200 LYZ 4069 HP:0000969 Edema OMIM:105200 LYZ 4069 HP:0003216 Generalized amyloid deposition OMIM:105200 LYZ 4069 HP:0001744 Splenomegaly OMIM:105200 LYZ 4069 HP:0000100 Nephrotic syndrome OMIM:105200 APOA1 335 HP:0002240 Hepatomegaly OMIM:105200 APOA1 335 HP:0000006 Autosomal dominant inheritance OMIM:105200 APOA1 335 HP:0000822 Hypertension OMIM:105200 APOA1 335 HP:0000093 Proteinuria OMIM:105200 APOA1 335 HP:0000790 Hematuria OMIM:105200 APOA1 335 HP:0000112 Nephropathy OMIM:105200 APOA1 335 HP:0001396 Cholestasis OMIM:105200 APOA1 335 HP:0000988 Skin rash OMIM:105200 APOA1 335 HP:0000969 Edema OMIM:105200 APOA1 335 HP:0003216 Generalized amyloid deposition OMIM:105200 APOA1 335 HP:0001744 Splenomegaly OMIM:105200 APOA1 335 HP:0000100 Nephrotic syndrome OMIM:105200 FGA 2243 HP:0002240 Hepatomegaly OMIM:105200 FGA 2243 HP:0000006 Autosomal dominant inheritance OMIM:105200 FGA 2243 HP:0000822 Hypertension OMIM:105200 FGA 2243 HP:0000093 Proteinuria OMIM:105200 FGA 2243 HP:0000790 Hematuria OMIM:105200 FGA 2243 HP:0000112 Nephropathy OMIM:105200 FGA 2243 HP:0001396 Cholestasis OMIM:105200 FGA 2243 HP:0000988 Skin rash OMIM:105200 FGA 2243 HP:0000969 Edema OMIM:105200 FGA 2243 HP:0003216 Generalized amyloid deposition OMIM:105200 FGA 2243 HP:0001744 Splenomegaly OMIM:105200 FGA 2243 HP:0000100 Nephrotic syndrome OMIM:615583 PUF60 22827 HP:0003812 Phenotypic variability OMIM:615583 PUF60 22827 HP:0002937 Hemivertebrae OMIM:615583 PUF60 22827 HP:0000006 Autosomal dominant inheritance OMIM:615583 PUF60 22827 HP:0030084 Clinodactyly OMIM:615583 PUF60 22827 HP:0001671 Abnormality of the cardiac septa OMIM:615583 PUF60 22827 HP:0003577 Congenital onset OMIM:615583 PUF60 22827 HP:0004322 Short stature OMIM:615583 PUF60 22827 HP:0002827 Hip dislocation OMIM:615583 PUF60 22827 HP:0002650 Scoliosis OMIM:615583 PUF60 22827 HP:0002059 Cerebral atrophy OMIM:615583 PUF60 22827 HP:0000107 Renal cyst OMIM:615583 PUF60 22827 HP:0009237 Short 5th finger OMIM:615583 PUF60 22827 HP:0003196 Short nose OMIM:615583 PUF60 22827 HP:0000343 Long philtrum OMIM:615583 PUF60 22827 HP:0011968 Feeding difficulties OMIM:615583 PUF60 22827 HP:0000589 Coloboma OMIM:615583 PUF60 22827 HP:0001263 Global developmental delay OMIM:615583 PUF60 22827 HP:0002948 Vertebral fusion OMIM:615583 PUF60 22827 HP:0000431 Wide nasal bridge OMIM:615583 PUF60 22827 HP:0000104 Renal agenesis OMIM:615583 PUF60 22827 HP:0000252 Microcephaly OMIM:615583 PUF60 22827 HP:0000089 Renal hypoplasia OMIM:615583 PUF60 22827 HP:0000341 Narrow forehead OMIM:615583 PUF60 22827 HP:0000470 Short neck OMIM:615583 PUF60 22827 HP:0000219 Thin upper lip vermilion OMIM:608940 PCYT1A 5130 HP:0008821 Hypoplastic inferior ilia OMIM:608940 PCYT1A 5130 HP:0008002 Abnormality of macular pigmentation OMIM:608940 PCYT1A 5130 HP:0008897 Postnatal growth retardation OMIM:608940 PCYT1A 5130 HP:0008905 Rhizomelia OMIM:608940 PCYT1A 5130 HP:0003300 Ovoid vertebral bodies OMIM:608940 PCYT1A 5130 HP:0003025 Metaphyseal irregularity OMIM:608940 PCYT1A 5130 HP:0003016 Metaphyseal widening OMIM:608940 PCYT1A 5130 HP:0001156 Brachydactyly syndrome OMIM:608940 PCYT1A 5130 HP:0002982 Tibial bowing OMIM:608940 PCYT1A 5130 HP:0007703 Abnormal retinal pigmentation OMIM:608940 PCYT1A 5130 HP:0000529 Progressive visual loss OMIM:608940 PCYT1A 5130 HP:0010049 Short metacarpal OMIM:608940 PCYT1A 5130 HP:0002650 Scoliosis OMIM:608940 PCYT1A 5130 HP:0009381 Short finger OMIM:608940 PCYT1A 5130 HP:0001376 Limitation of joint mobility OMIM:608940 PCYT1A 5130 HP:0002812 Coxa vara OMIM:608940 PCYT1A 5130 HP:0000403 Recurrent otitis media OMIM:608940 PCYT1A 5130 HP:0004565 Severe platyspondyly OMIM:608940 PCYT1A 5130 HP:0002657 Spondylometaphyseal dysplasia OMIM:608940 PCYT1A 5130 HP:0000639 Nystagmus OMIM:608940 PCYT1A 5130 HP:0000007 Autosomal recessive inheritance OMIM:608940 PCYT1A 5130 HP:0000689 Dental malocclusion OMIM:608940 PCYT1A 5130 HP:0000483 Astigmatism OMIM:608940 PCYT1A 5130 HP:0003307 Hyperlordosis OMIM:608940 PCYT1A 5130 HP:0000887 Cupped ribs OMIM:608940 PCYT1A 5130 HP:0000540 Hypermetropia OMIM:608940 PCYT1A 5130 HP:0002980 Femoral bowing OMIM:608940 PCYT1A 5130 HP:0000548 Cone-rod dystrophy OMIM:608940 PCYT1A 5130 HP:0000551 Abnormality of color vision OMIM:608940 PCYT1A 5130 HP:0003021 Metaphyseal cupping OMIM:608940 PCYT1A 5130 HP:0000545 Myopia OMIM:608940 PCYT1A 5130 HP:0001387 Joint stiffness OMIM:608940 PCYT1A 5130 HP:0000613 Photophobia OMIM:608940 PCYT1A 5130 HP:0003375 Narrow greater sacrosciatic notches OMIM:203400 CYP11B2 1585 HP:0000127 Renal salt wasting OMIM:203400 CYP11B2 1585 HP:0004319 Hypoaldosteronism OMIM:203400 CYP11B2 1585 HP:0000848 Increased circulating renin level OMIM:203400 CYP11B2 1585 HP:0002924 Decreased circulating aldosterone level OMIM:203400 CYP11B2 1585 HP:0003623 Neonatal onset OMIM:203400 CYP11B2 1585 HP:0001944 Dehydration OMIM:203400 CYP11B2 1585 HP:0002153 Hyperkalemia OMIM:203400 CYP11B2 1585 HP:0001954 Episodic fever OMIM:203400 CYP11B2 1585 HP:0008872 Feeding difficulties in infancy OMIM:203400 CYP11B2 1585 HP:0001510 Growth delay OMIM:203400 CYP11B2 1585 HP:0002013 Vomiting OMIM:203400 CYP11B2 1585 HP:0002615 Hypotension OMIM:203400 CYP11B2 1585 HP:0001508 Failure to thrive OMIM:203400 CYP11B2 1585 HP:0000007 Autosomal recessive inheritance OMIM:203400 CYP11B2 1585 HP:0002902 Hyponatremia OMIM:613237 INF2 64423 HP:0000100 Nephrotic syndrome OMIM:613237 INF2 64423 HP:0000097 Focal segmental glomerulosclerosis OMIM:615185 GNB4 59345 HP:0003376 Steppage gait OMIM:615185 GNB4 59345 HP:0001265 Hyporeflexia OMIM:615185 GNB4 59345 HP:0000006 Autosomal dominant inheritance OMIM:615185 GNB4 59345 HP:0001765 Hammertoe OMIM:615185 GNB4 59345 HP:0002936 Distal sensory impairment OMIM:615185 GNB4 59345 HP:0003450 Axonal regeneration OMIM:615185 GNB4 59345 HP:0003677 Slow progression OMIM:615185 GNB4 59345 HP:0003383 Onion bulb formation OMIM:615185 GNB4 59345 HP:0001761 Pes cavus OMIM:613790 C8A 731 HP:0001287 Meningitis OMIM:613790 C8A 731 HP:0000007 Autosomal recessive inheritance OMIM:613790 C8A 731 HP:0004434 C8 deficiency OMIM:613790 C8A 731 HP:0002725 Systemic lupus erythematosus OMIM:615035 C12ORF65 91574 HP:0000639 Nystagmus OMIM:615035 C12ORF65 91574 HP:0001258 Spastic paraplegia OMIM:615035 C12ORF65 91574 HP:0003383 Onion bulb formation OMIM:615035 C12ORF65 91574 HP:0002079 Hypoplasia of the corpus callosum OMIM:615035 C12ORF65 91574 HP:0002936 Distal sensory impairment OMIM:615035 C12ORF65 91574 HP:0003376 Steppage gait OMIM:615035 C12ORF65 91574 HP:0001762 Talipes equinovarus OMIM:615035 C12ORF65 91574 HP:0002169 Clonus OMIM:615035 C12ORF65 91574 HP:0000007 Autosomal recessive inheritance OMIM:615035 C12ORF65 91574 HP:0001249 Intellectual disability OMIM:615035 C12ORF65 91574 HP:0000486 Strabismus OMIM:615035 C12ORF65 91574 HP:0100543 Cognitive impairment OMIM:615035 C12ORF65 91574 HP:0003487 Babinski sign OMIM:615035 C12ORF65 91574 HP:0000603 Central scotoma OMIM:615035 C12ORF65 91574 HP:0003828 Variable expressivity OMIM:615035 C12ORF65 91574 HP:0003477 Peripheral axonal neuropathy OMIM:615035 C12ORF65 91574 HP:0001263 Global developmental delay OMIM:615035 C12ORF65 91574 HP:0000505 Visual impairment OMIM:615035 C12ORF65 91574 HP:0000648 Optic atrophy OMIM:615035 C12ORF65 91574 HP:0002355 Difficulty walking OMIM:614120 KIF7 374654 HP:0100259 Postaxial polydactyly OMIM:614120 KIF7 374654 HP:0100258 Preaxial polydactyly OMIM:614120 KIF7 374654 HP:0000175 Cleft palate OMIM:614120 KIF7 374654 HP:0000007 Autosomal recessive inheritance OMIM:614120 KIF7 374654 HP:0002323 Anencephaly OMIM:614120 KIF7 374654 HP:0002419 Molar tooth sign on MRI OMIM:614120 KIF7 374654 HP:0002119 Ventriculomegaly OMIM:614120 KIF7 374654 HP:0001274 Agenesis of corpus callosum OMIM:614120 KIF7 374654 HP:0000347 Micrognathia OMIM:614120 KIF7 374654 HP:0000238 Hydrocephalus OMIM:611553 RAF1 5894 HP:0004322 Short stature OMIM:611553 RAF1 5894 HP:0001631 Defect in the atrial septum OMIM:611553 RAF1 5894 HP:0001639 Hypertrophic cardiomyopathy OMIM:611553 RAF1 5894 HP:0000470 Short neck OMIM:611553 RAF1 5894 HP:0000465 Webbed neck OMIM:611553 RAF1 5894 HP:0000006 Autosomal dominant inheritance OMIM:611553 RAF1 5894 HP:0001263 Global developmental delay OMIM:611553 RAF1 5894 HP:0001999 Abnormal facial shape OMIM:611553 RAF1 5894 HP:0000766 Abnormality of the sternum OMIM:218000 SLC12A6 9990 HP:0007178 Motor polyneuropathy OMIM:218000 SLC12A6 9990 HP:0000709 Psychosis OMIM:218000 SLC12A6 9990 HP:0000007 Autosomal recessive inheritance OMIM:218000 SLC12A6 9990 HP:0003202 Skeletal muscle atrophy OMIM:218000 SLC12A6 9990 HP:0001349 Facial diplegia OMIM:218000 SLC12A6 9990 HP:0001274 Agenesis of corpus callosum OMIM:218000 SLC12A6 9990 HP:0000324 Facial asymmetry OMIM:218000 SLC12A6 9990 HP:0001250 Seizures OMIM:218000 SLC12A6 9990 HP:0000316 Hypertelorism OMIM:218000 SLC12A6 9990 HP:0003196 Short nose OMIM:218000 SLC12A6 9990 HP:0003383 Onion bulb formation OMIM:218000 SLC12A6 9990 HP:0003444 EMG: chronic denervation signs OMIM:218000 SLC12A6 9990 HP:0000294 Low anterior hairline OMIM:218000 SLC12A6 9990 HP:0200085 Limb tremor OMIM:218000 SLC12A6 9990 HP:0000327 Hypoplasia of the maxilla OMIM:218000 SLC12A6 9990 HP:0011947 Respiratory tract infection OMIM:218000 SLC12A6 9990 HP:0000252 Microcephaly OMIM:218000 SLC12A6 9990 HP:0001271 Polyneuropathy OMIM:218000 SLC12A6 9990 HP:0002922 Increased CSF protein OMIM:218000 SLC12A6 9990 HP:0000276 Long face OMIM:218000 SLC12A6 9990 HP:0002111 Restrictive respiratory insufficiency OMIM:218000 SLC12A6 9990 HP:0001249 Intellectual disability OMIM:218000 SLC12A6 9990 HP:0003477 Peripheral axonal neuropathy OMIM:218000 SLC12A6 9990 HP:0000218 High palate OMIM:218000 SLC12A6 9990 HP:0001263 Global developmental delay OMIM:218000 SLC12A6 9990 HP:0000341 Narrow forehead OMIM:218000 SLC12A6 9990 HP:0000400 Macrotia OMIM:218000 SLC12A6 9990 HP:0002650 Scoliosis OMIM:218000 SLC12A6 9990 HP:0004691 2-3 toe syndactyly OMIM:218000 SLC12A6 9990 HP:0001270 Motor delay OMIM:218000 SLC12A6 9990 HP:0001284 Areflexia OMIM:218000 SLC12A6 9990 HP:0002353 EEG abnormality OMIM:218000 SLC12A6 9990 HP:0003378 Axonal degeneration/regeneration OMIM:218000 SLC12A6 9990 HP:0003690 Limb muscle weakness OMIM:218000 SLC12A6 9990 HP:0003448 Decreased sensory nerve conduction velocity OMIM:218000 SLC12A6 9990 HP:0003676 Progressive disorder OMIM:218000 SLC12A6 9990 HP:0000508 Ptosis OMIM:218000 SLC12A6 9990 HP:0007703 Abnormal retinal pigmentation OMIM:218000 SLC12A6 9990 HP:0003431 Decreased motor nerve conduction velocity OMIM:218000 SLC12A6 9990 HP:0002410 Aqueductal stenosis OMIM:218000 SLC12A6 9990 HP:0002119 Ventriculomegaly OMIM:218000 SLC12A6 9990 HP:0000431 Wide nasal bridge OMIM:218000 SLC12A6 9990 HP:0004374 Hemiplegia/hemiparesis OMIM:218000 SLC12A6 9990 HP:0001363 Craniosynostosis OMIM:218000 SLC12A6 9990 HP:0000248 Brachycephaly OMIM:218000 SLC12A6 9990 HP:0000486 Strabismus OMIM:218000 SLC12A6 9990 HP:0001290 Generalized hypotonia OMIM:218000 SLC12A6 9990 HP:0000639 Nystagmus OMIM:218000 SLC12A6 9990 HP:0000545 Myopia OMIM:218000 SLC12A6 9990 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:218000 SLC12A6 9990 HP:0100543 Cognitive impairment OMIM:218000 SLC12A6 9990 HP:0001182 Tapered finger OMIM:218000 SLC12A6 9990 HP:0000763 Sensory neuropathy OMIM:218000 SLC12A6 9990 HP:0001371 Flexion contracture OMIM:218000 SLC12A6 9990 HP:0001319 Neonatal hypotonia OMIM:170100 PEPD 5184 HP:0002099 Asthma OMIM:170100 PEPD 5184 HP:0000998 Hypertrichosis OMIM:170100 PEPD 5184 HP:0002240 Hepatomegaly OMIM:170100 PEPD 5184 HP:0001903 Anemia OMIM:170100 PEPD 5184 HP:0001166 Arachnodactyly OMIM:170100 PEPD 5184 HP:0005280 Depressed nasal bridge OMIM:170100 PEPD 5184 HP:0001873 Thrombocytopenia OMIM:170100 PEPD 5184 HP:0002205 Recurrent respiratory infections OMIM:170100 PEPD 5184 HP:0000444 Convex nasal ridge OMIM:170100 PEPD 5184 HP:0000520 Proptosis OMIM:170100 PEPD 5184 HP:0007703 Abnormal retinal pigmentation OMIM:170100 PEPD 5184 HP:0000370 Abnormality of the middle ear OMIM:170100 PEPD 5184 HP:0002857 Genu valgum OMIM:170100 PEPD 5184 HP:0100577 Urinary bladder inflammation OMIM:170100 PEPD 5184 HP:0011220 Prominent forehead OMIM:170100 PEPD 5184 HP:0010669 Cheekbone underdevelopment OMIM:170100 PEPD 5184 HP:0000457 Depressed nasal ridge OMIM:170100 PEPD 5184 HP:0001744 Splenomegaly OMIM:170100 PEPD 5184 HP:0000272 Malar flattening OMIM:170100 PEPD 5184 HP:0002162 Low posterior hairline OMIM:170100 PEPD 5184 HP:0000992 Cutaneous photosensitivity OMIM:170100 PEPD 5184 HP:0007489 Diffuse telangiectasia OMIM:170100 PEPD 5184 HP:0000294 Low anterior hairline OMIM:170100 PEPD 5184 HP:0000954 Single transverse palmar crease OMIM:170100 PEPD 5184 HP:0200042 Skin ulcer OMIM:170100 PEPD 5184 HP:0006528 Chronic lung disease OMIM:170100 PEPD 5184 HP:0000508 Ptosis OMIM:170100 PEPD 5184 HP:0000958 Dry skin OMIM:170100 PEPD 5184 HP:0006532 Recurrent pneumonia OMIM:170100 PEPD 5184 HP:0000347 Micrognathia OMIM:170100 PEPD 5184 HP:0000316 Hypertelorism OMIM:170100 PEPD 5184 HP:0000967 Petechiae OMIM:170100 PEPD 5184 HP:0006579 Prolonged neonatal jaundice OMIM:170100 PEPD 5184 HP:0001231 Abnormality of the fingernails OMIM:170100 PEPD 5184 HP:0003272 Abnormality of the hip bone OMIM:170100 PEPD 5184 HP:0000963 Thin skin OMIM:170100 PEPD 5184 HP:0007473 Crusting erythematous dermatitis OMIM:170100 PEPD 5184 HP:0001939 Abnormality of metabolism/homeostasis OMIM:170100 PEPD 5184 HP:0004349 Reduced bone mineral density OMIM:170100 PEPD 5184 HP:0000670 Carious teeth OMIM:170100 PEPD 5184 HP:0000505 Visual impairment OMIM:170100 PEPD 5184 HP:0003196 Short nose OMIM:170100 PEPD 5184 HP:0002725 Systemic lupus erythematosus OMIM:170100 PEPD 5184 HP:0000982 Palmoplantar keratoderma OMIM:170100 PEPD 5184 HP:0001999 Abnormal facial shape OMIM:170100 PEPD 5184 HP:0001263 Global developmental delay OMIM:170100 PEPD 5184 HP:0002211 White forelock OMIM:170100 PEPD 5184 HP:0100543 Cognitive impairment OMIM:170100 PEPD 5184 HP:0000989 Pruritus OMIM:170100 PEPD 5184 HP:0000365 Hearing impairment OMIM:170100 PEPD 5184 HP:0000007 Autosomal recessive inheritance OMIM:616138 C10ORF2 56652 HP:0001265 Hyporeflexia OMIM:616138 C10ORF2 56652 HP:0000639 Nystagmus OMIM:616138 C10ORF2 56652 HP:0002403 Positive Romberg sign OMIM:616138 C10ORF2 56652 HP:0000815 Hypergonadotropic hypogonadism OMIM:616138 C10ORF2 56652 HP:0000218 High palate OMIM:616138 C10ORF2 56652 HP:0003542 Increased serum pyruvate OMIM:616138 C10ORF2 56652 HP:0002151 Increased serum lactate OMIM:616138 C10ORF2 56652 HP:0001761 Pes cavus OMIM:616138 C10ORF2 56652 HP:0000786 Primary amenorrhea OMIM:616138 C10ORF2 56652 HP:0001251 Ataxia OMIM:616138 C10ORF2 56652 HP:0003390 Sensory axonal neuropathy OMIM:616138 C10ORF2 56652 HP:0001250 Seizures OMIM:616138 C10ORF2 56652 HP:0000133 Gonadal dysgenesis OMIM:616138 C10ORF2 56652 HP:0000602 Ophthalmoplegia OMIM:131850 COL7A1 1294 HP:0008388 Abnormality of the toenails OMIM:131850 COL7A1 1294 HP:0000006 Autosomal dominant inheritance OMIM:131850 COL7A1 1294 HP:0000989 Pruritus OMIM:131850 COL7A1 1294 HP:0012221 Pretibial blistering OMIM:131850 COL7A1 1294 HP:0008066 Abnormal blistering of the skin OMIM:131850 COL7A1 1294 HP:0000962 Hyperkeratosis OMIM:131850 COL7A1 1294 HP:0000987 Atypical scarring of skin OMIM:131850 COL7A1 1294 HP:0100725 Lichenification OMIM:131850 COL7A1 1294 HP:0001231 Abnormality of the fingernails OMIM:614017 DNAL1 83544 HP:0000389 Chronic otitis media OMIM:614017 DNAL1 83544 HP:0012262 Abnormal ciliary motility OMIM:614017 DNAL1 83544 HP:0011109 Chronic sinusitis OMIM:614017 DNAL1 83544 HP:0012265 Ciliary dyskinesia OMIM:614017 DNAL1 83544 HP:0000007 Autosomal recessive inheritance OMIM:614017 DNAL1 83544 HP:0002110 Bronchiectasis OMIM:614017 DNAL1 83544 HP:0001696 Situs inversus totalis OMIM:614017 DNAL1 83544 HP:0002257 Chronic rhinitis OMIM:614017 DNAL1 83544 HP:0003577 Congenital onset OMIM:614017 DNAL1 83544 HP:0012256 Absent outer dynein arms OMIM:614582 MRPL3 11222 HP:0000007 Autosomal recessive inheritance OMIM:614582 MRPL3 11222 HP:0003348 Hyperalaninemia OMIM:614582 MRPL3 11222 HP:0002151 Increased serum lactate OMIM:614582 MRPL3 11222 HP:0002240 Hepatomegaly OMIM:614582 MRPL3 11222 HP:0001508 Failure to thrive OMIM:614582 MRPL3 11222 HP:0002094 Dyspnea OMIM:614582 MRPL3 11222 HP:0001639 Hypertrophic cardiomyopathy OMIM:614582 MRPL3 11222 HP:0011968 Feeding difficulties OMIM:614582 MRPL3 11222 HP:0002910 Elevated hepatic transaminases OMIM:614582 MRPL3 11222 HP:0001263 Global developmental delay OMIM:615511 AMPD1 270 HP:0001324 Muscle weakness OMIM:615511 AMPD1 270 HP:0003750 Increased muscle fatiguability OMIM:615511 AMPD1 270 HP:0003201 Rhabdomyolysis OMIM:615511 AMPD1 270 HP:0001252 Muscular hypotonia OMIM:243000 SCN9A 6335 HP:0003593 Infantile onset OMIM:243000 SCN9A 6335 HP:0007021 Pain insensitivity OMIM:243000 SCN9A 6335 HP:0004409 Hyposmia OMIM:243000 SCN9A 6335 HP:0000458 Anosmia OMIM:243000 SCN9A 6335 HP:0000007 Autosomal recessive inheritance OMIM:243000 SCN9A 6335 HP:0001265 Hyporeflexia OMIM:243000 SCN9A 6335 HP:0002661 Painless fractures due to injury OMIM:608654 NGF 4803 HP:0003593 Infantile onset OMIM:608654 NGF 4803 HP:0007021 Pain insensitivity OMIM:608654 NGF 4803 HP:0000742 Self-mutilation OMIM:608654 NGF 4803 HP:0001862 Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) OMIM:608654 NGF 4803 HP:0000970 Anhidrosis OMIM:608654 NGF 4803 HP:0001954 Episodic fever OMIM:608654 NGF 4803 HP:0000007 Autosomal recessive inheritance OMIM:608654 NGF 4803 HP:0009830 Peripheral neuropathy OMIM:608654 NGF 4803 HP:0002661 Painless fractures due to injury OMIM:608654 NGF 4803 HP:0001226 Acral ulceration and osteomyelitis leading to autoamputation of digits OMIM:608654 NGF 4803 HP:0001256 Intellectual disability, mild OMIM:616067 ZFPM2 23414 HP:0000729 Autistic behavior OMIM:616067 ZFPM2 23414 HP:0000063 Fused labia minora OMIM:616067 ZFPM2 23414 HP:0000062 Ambiguous genitalia ORPHANET:867 CYLD 1540 HP:0100585 Teleangiectasia of the skin ORPHANET:867 CYLD 1540 HP:0008069 Neoplasm of the skin OMIM:274500 TPO 7173 HP:0000853 Goiter OMIM:274500 TPO 7173 HP:0000821 Hypothyroidism OMIM:274500 TPO 7173 HP:0000007 Autosomal recessive inheritance OMIM:274500 TPO 7173 HP:0008263 Thyroid defect in oxidation and organification of iodide OMIM:274500 TPO 7173 HP:0001939 Abnormality of metabolism/homeostasis OMIM:612225 PAX4 5078 HP:0000006 Autosomal dominant inheritance OMIM:612225 PAX4 5078 HP:0004904 Maturity-onset diabetes of the young OMIM:614814 RBPJ 3516 HP:0004691 2-3 toe syndactyly OMIM:614814 RBPJ 3516 HP:0000006 Autosomal dominant inheritance OMIM:614814 RBPJ 3516 HP:0012745 Short palpebral fissure OMIM:614814 RBPJ 3516 HP:0010760 Absent toe OMIM:614814 RBPJ 3516 HP:0000252 Microcephaly OMIM:614814 RBPJ 3516 HP:0000581 Blepharophimosis OMIM:614814 RBPJ 3516 HP:0009882 Short distal phalanx of finger OMIM:614814 RBPJ 3516 HP:0010743 Short metatarsal OMIM:614814 RBPJ 3516 HP:0001263 Global developmental delay OMIM:608649 SLC27A4 10999 HP:0001622 Premature birth OMIM:608649 SLC27A4 10999 HP:0008064 Ichthyosis OMIM:611465 ABCG8 64241 HP:0001081 Cholelithiasis OMIM:611465 ABCG8 64241 HP:0010982 Polygenic inheritance OMIM:616278 ABCD3 5825 HP:0001891 Iron deficiency anemia OMIM:616278 ABCD3 5825 HP:0000952 Jaundice OMIM:616278 ABCD3 5825 HP:0002240 Hepatomegaly OMIM:616278 ABCD3 5825 HP:0001744 Splenomegaly OMIM:616278 ABCD3 5825 HP:0002910 Elevated hepatic transaminases OMIM:616278 ABCD3 5825 HP:0001399 Hepatic failure OMIM:516005 ND5 4540 HP:0001939 Abnormality of metabolism/homeostasis OMIM:516005 ND5 4540 HP:0000543 Optic disc pallor OMIM:516005 ND5 4540 HP:0003674 Onset OMIM:516005 ND5 4540 HP:0002315 Headache OMIM:516005 ND5 4540 HP:0001112 Leber optic atrophy OMIM:516005 ND5 4540 HP:0001129 Large central visual field defect OMIM:516005 ND5 4540 HP:0001117 Sudden central visual loss OMIM:516005 ND5 4540 HP:0001427 Mitochondrial inheritance OMIM:516005 ND5 4540 HP:0001085 Papilledema OMIM:600060 MYO7A 4647 HP:0000007 Autosomal recessive inheritance OMIM:600060 MYO7A 4647 HP:0002321 Vertigo OMIM:600060 MYO7A 4647 HP:0003577 Congenital onset OMIM:600060 MYO7A 4647 HP:0000407 Sensorineural hearing impairment OMIM:607678 EGR2 1959 HP:0003431 Decreased motor nerve conduction velocity OMIM:607678 EGR2 1959 HP:0000006 Autosomal dominant inheritance OMIM:607678 EGR2 1959 HP:0009027 Foot dorsiflexor weakness OMIM:607678 EGR2 1959 HP:0003376 Steppage gait OMIM:607678 EGR2 1959 HP:0003484 Upper limb muscle weakness OMIM:607678 EGR2 1959 HP:0003621 Juvenile onset OMIM:607678 EGR2 1959 HP:0003693 Distal amyotrophy OMIM:607678 EGR2 1959 HP:0002460 Distal muscle weakness OMIM:607678 EGR2 1959 HP:0003828 Variable expressivity OMIM:301835 PRPS1 5631 HP:0009830 Peripheral neuropathy OMIM:301835 PRPS1 5631 HP:0002307 Drooling OMIM:301835 PRPS1 5631 HP:0002311 Incoordination OMIM:301835 PRPS1 5631 HP:0000648 Optic atrophy OMIM:301835 PRPS1 5631 HP:0002445 Tetraplegia OMIM:301835 PRPS1 5631 HP:0003323 Progressive muscle weakness OMIM:301835 PRPS1 5631 HP:0001252 Muscular hypotonia OMIM:301835 PRPS1 5631 HP:0002015 Dysphagia OMIM:301835 PRPS1 5631 HP:0010978 Abnormality of immune system physiology OMIM:301835 PRPS1 5631 HP:0002719 Recurrent infections OMIM:301835 PRPS1 5631 HP:0100543 Cognitive impairment OMIM:301835 PRPS1 5631 HP:0001347 Hyperreflexia OMIM:301835 PRPS1 5631 HP:0001419 X-linked recessive inheritance OMIM:301835 PRPS1 5631 HP:0001315 Reduced tendon reflexes OMIM:301835 PRPS1 5631 HP:0001522 Death in infancy OMIM:301835 PRPS1 5631 HP:0001249 Intellectual disability OMIM:301835 PRPS1 5631 HP:0001284 Areflexia OMIM:301835 PRPS1 5631 HP:0000572 Visual loss OMIM:301835 PRPS1 5631 HP:0001319 Neonatal hypotonia OMIM:301835 PRPS1 5631 HP:0002093 Respiratory insufficiency OMIM:301835 PRPS1 5631 HP:0000365 Hearing impairment OMIM:301835 PRPS1 5631 HP:0000639 Nystagmus OMIM:301835 PRPS1 5631 HP:0004374 Hemiplegia/hemiparesis OMIM:301835 PRPS1 5631 HP:0002721 Immunodeficiency OMIM:301835 PRPS1 5631 HP:0008311 Spinal cord posterior columns myelin loss OMIM:301835 PRPS1 5631 HP:0001324 Muscle weakness OMIM:301835 PRPS1 5631 HP:0100732 Pancreatic fibrosis OMIM:301835 PRPS1 5631 HP:0002788 Recurrent upper respiratory tract infections OMIM:301835 PRPS1 5631 HP:0000505 Visual impairment OMIM:301835 PRPS1 5631 HP:0001344 Absent speech OMIM:301835 PRPS1 5631 HP:0001263 Global developmental delay OMIM:301835 PRPS1 5631 HP:0000762 Decreased nerve conduction velocity OMIM:301835 PRPS1 5631 HP:0000407 Sensorineural hearing impairment OMIM:301835 PRPS1 5631 HP:0001250 Seizures OMIM:301835 PRPS1 5631 HP:0001251 Ataxia OMIM:301835 PRPS1 5631 HP:0001510 Growth delay OMIM:615399 PIGT 51604 HP:0002014 Diarrhea OMIM:615399 PIGT 51604 HP:0002829 Arthralgia OMIM:615399 PIGT 51604 HP:0002027 Abdominal pain OMIM:615399 PIGT 51604 HP:0002094 Dyspnea OMIM:615399 PIGT 51604 HP:0004818 Paroxysmal nocturnal hemoglobinuria OMIM:615399 PIGT 51604 HP:0001428 Somatic mutation OMIM:615399 PIGT 51604 HP:0001025 Urticaria OMIM:615399 PIGT 51604 HP:0012378 Fatigue OMIM:615399 PIGT 51604 HP:0000006 Autosomal dominant inheritance OMIM:615399 PIGT 51604 HP:0002315 Headache OMIM:615399 PIGT 51604 HP:0001878 Hemolytic anemia ORPHANET:194 SALL2 6297 HP:0000612 Iris coloboma ORPHANET:194 ABCB6 10058 HP:0000612 Iris coloboma ORPHANET:194 SHH 6469 HP:0000612 Iris coloboma ORPHANET:194 PAX6 5080 HP:0000612 Iris coloboma OMIM:604498 MPL 4352 HP:0001671 Abnormality of the cardiac septa OMIM:604498 MPL 4352 HP:0005548 Megakaryocytopenia OMIM:604498 MPL 4352 HP:0002650 Scoliosis OMIM:604498 MPL 4352 HP:0010472 Abnormality of the heme biosynthetic pathway OMIM:604498 MPL 4352 HP:0004322 Short stature OMIM:604498 MPL 4352 HP:0004859 Amegakaryocytic thrombocytopenia OMIM:604498 MPL 4352 HP:0000280 Coarse facial features OMIM:604498 MPL 4352 HP:0001873 Thrombocytopenia OMIM:604498 MPL 4352 HP:0000995 Melanocytic nevus OMIM:604498 MPL 4352 HP:0004331 Decreased skull ossification OMIM:604498 MPL 4352 HP:0001903 Anemia OMIM:604498 MPL 4352 HP:0001876 Pancytopenia OMIM:604498 MPL 4352 HP:0001320 Cerebellar vermis hypoplasia OMIM:604498 MPL 4352 HP:0000007 Autosomal recessive inheritance OMIM:604498 MPL 4352 HP:0000470 Short neck OMIM:604498 MPL 4352 HP:0003312 Abnormal form of the vertebral bodies OMIM:604233 SCN1B 6324 HP:0003829 Incomplete penetrance OMIM:604233 SCN1B 6324 HP:0002069 Generalized tonic-clonic seizures OMIM:604233 SCN1B 6324 HP:0002373 Febrile seizures OMIM:604233 SCN1B 6324 HP:0000006 Autosomal dominant inheritance OMIM:604233 SCN1B 6324 HP:0010819 Atonic seizures OMIM:604233 SCN1B 6324 HP:0002121 Absence seizures OMIM:604387 NPHP3 27031 HP:0000090 Nephronophthisis OMIM:604387 NPHP3 27031 HP:0001959 Polydipsia OMIM:604387 NPHP3 27031 HP:0001395 Hepatic fibrosis OMIM:604387 NPHP3 27031 HP:0000007 Autosomal recessive inheritance OMIM:604387 NPHP3 27031 HP:0000103 Polyuria OMIM:604387 NPHP3 27031 HP:0000083 Renal insufficiency OMIM:604387 NPHP3 27031 HP:0000092 Tubular atrophy OMIM:604387 NPHP3 27031 HP:0000108 Renal corticomedullary cysts OMIM:604387 NPHP3 27031 HP:0005576 Tubulointerstitial fibrosis OMIM:604387 NPHP3 27031 HP:0000805 Enuresis OMIM:607823 SOX18 54345 HP:0001597 Abnormality of the nail OMIM:607823 SOX18 54345 HP:0000006 Autosomal dominant inheritance OMIM:607823 SOX18 54345 HP:0100764 Lymphangioma OMIM:607823 SOX18 54345 HP:0000164 Abnormality of the teeth OMIM:607823 SOX18 54345 HP:0001006 Hypotrichosis OMIM:607823 SOX18 54345 HP:0000561 Absent eyelashes OMIM:607823 SOX18 54345 HP:0010741 Edema of the lower limbs OMIM:607823 SOX18 54345 HP:0002585 Abnormality of the peritoneum OMIM:607823 SOX18 54345 HP:0000034 Hydrocele testis OMIM:607823 SOX18 54345 HP:0002223 Absent eyebrow OMIM:607823 SOX18 54345 HP:0000965 Cutis marmorata OMIM:607823 SOX18 54345 HP:0001789 Hydrops fetalis OMIM:607823 SOX18 54345 HP:0100672 Vaginal hernia OMIM:607823 SOX18 54345 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:607823 SOX18 54345 HP:0001596 Alopecia OMIM:607823 SOX18 54345 HP:0100539 Periorbital edema OMIM:607823 SOX18 54345 HP:0003550 Predominantly lower limb lymphedema OMIM:607823 SOX18 54345 HP:0100869 Palmar telangiectasia OMIM:607823 SOX18 54345 HP:0002103 Abnormality of the pleura OMIM:607823 SOX18 54345 HP:0000478 Abnormality of the eye OMIM:607823 SOX18 54345 HP:0005293 Venous insufficiency OMIM:607823 SOX18 54345 HP:0001790 Nonimmune hydrops fetalis OMIM:607823 SOX18 54345 HP:0000007 Autosomal recessive inheritance OMIM:607823 SOX18 54345 HP:0000963 Thin skin OMIM:612376 RARA 5914 HP:0001428 Somatic mutation OMIM:612376 RARA 5914 HP:0012135 Abnormality of cells of the granulocytic lineage OMIM:612376 RARA 5914 HP:0004836 Acute promyelocytic leukemia OMIM:610733 SOS1 6654 HP:0000316 Hypertelorism OMIM:610733 SOS1 6654 HP:0002650 Scoliosis OMIM:610733 SOS1 6654 HP:0000368 Low-set, posteriorly rotated ears OMIM:610733 SOS1 6654 HP:0002212 Curly hair OMIM:610733 SOS1 6654 HP:0005280 Depressed nasal bridge OMIM:610733 SOS1 6654 HP:0003010 Prolonged bleeding time OMIM:610733 SOS1 6654 HP:0002967 Cubitus valgus OMIM:610733 SOS1 6654 HP:0000689 Dental malocclusion OMIM:610733 SOS1 6654 HP:0000286 Epicanthus OMIM:610733 SOS1 6654 HP:0000508 Ptosis OMIM:610733 SOS1 6654 HP:0006610 Wide intermamillary distance OMIM:610733 SOS1 6654 HP:0000465 Webbed neck OMIM:610733 SOS1 6654 HP:0000535 Sparse eyebrow OMIM:610733 SOS1 6654 HP:0000494 Downslanted palpebral fissures OMIM:610733 SOS1 6654 HP:0000470 Short neck OMIM:610733 SOS1 6654 HP:0000635 Blue irides OMIM:610733 SOS1 6654 HP:0001642 Pulmonic stenosis OMIM:610733 SOS1 6654 HP:0000256 Macrocephaly OMIM:610733 SOS1 6654 HP:0000028 Cryptorchidism OMIM:610733 SOS1 6654 HP:0000006 Autosomal dominant inheritance OMIM:610733 SOS1 6654 HP:0001639 Hypertrophic cardiomyopathy OMIM:610733 SOS1 6654 HP:0000179 Thick lower lip vermilion OMIM:610733 SOS1 6654 HP:0004322 Short stature OMIM:610733 SOS1 6654 HP:0009890 High anterior hairline OMIM:610733 SOS1 6654 HP:0000915 Pectus excavatum of inferior sternum OMIM:610733 SOS1 6654 HP:0001629 Ventricular septal defect OMIM:615550 RPL15 6138 HP:0001972 Macrocytic anemia OMIM:615550 RPL15 6138 HP:0001629 Ventricular septal defect OMIM:615550 RPL15 6138 HP:0001896 Reticulocytopenia OMIM:615550 RPL15 6138 HP:0030270 Elevated red cell adenosine deaminase activity OMIM:615550 RPL15 6138 HP:0000006 Autosomal dominant inheritance OMIM:615550 RPL15 6138 HP:0001895 Normochromic anemia OMIM:615550 RPL15 6138 HP:0001199 Triphalangeal thumb OMIM:603554 RAG2 5897 HP:0001072 Thickened skin OMIM:603554 RAG2 5897 HP:0001974 Leukocytosis OMIM:603554 RAG2 5897 HP:0002024 Malabsorption OMIM:603554 RAG2 5897 HP:0100646 Thyroiditis OMIM:603554 RAG2 5897 HP:0100806 Sepsis OMIM:603554 RAG2 5897 HP:0002014 Diarrhea OMIM:603554 RAG2 5897 HP:0004370 Abnormality of temperature regulation OMIM:603554 RAG2 5897 HP:0000969 Edema OMIM:603554 RAG2 5897 HP:0002841 Recurrent fungal infections OMIM:603554 RAG2 5897 HP:0001596 Alopecia OMIM:603554 RAG2 5897 HP:0001880 Eosinophilia OMIM:603554 RAG2 5897 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:603554 RAG2 5897 HP:0000944 Abnormality of the metaphyses OMIM:603554 RAG2 5897 HP:0002716 Lymphadenopathy OMIM:603554 RAG2 5897 HP:0002240 Hepatomegaly OMIM:603554 RAG2 5897 HP:0000821 Hypothyroidism OMIM:603554 RAG2 5897 HP:0001903 Anemia OMIM:603554 RAG2 5897 HP:0001744 Splenomegaly OMIM:603554 RAG2 5897 HP:0010976 B lymphocytopenia OMIM:603554 RAG2 5897 HP:0000958 Dry skin OMIM:603554 RAG2 5897 HP:0000100 Nephrotic syndrome OMIM:603554 RAG2 5897 HP:0003075 Hypoproteinemia OMIM:603554 RAG2 5897 HP:0000778 Hypoplasia of the thymus OMIM:603554 RAG2 5897 HP:0005365 Severe B lymphocytopenia OMIM:603554 RAG2 5897 HP:0002090 Pneumonia OMIM:603554 RAG2 5897 HP:0000989 Pruritus OMIM:603554 RAG2 5897 HP:0002960 Autoimmunity OMIM:603554 RAG2 5897 HP:0004429 Recurrent viral infections OMIM:603554 RAG2 5897 HP:0004430 Severe combined immunodeficiency OMIM:603554 RAG2 5897 HP:0002718 Recurrent bacterial infections OMIM:603554 RAG2 5897 HP:0000007 Autosomal recessive inheritance OMIM:603554 RAG2 5897 HP:0001508 Failure to thrive OMIM:603554 RAG2 5897 HP:0002665 Lymphoma OMIM:603554 RAG2 5897 HP:0001873 Thrombocytopenia OMIM:603554 RAG2 5897 HP:0001231 Abnormality of the fingernails OMIM:603554 RAG2 5897 HP:0001879 Abnormality of eosinophils OMIM:603554 RAG2 5897 HP:0001019 Erythroderma OMIM:603554 RAG1 5896 HP:0001072 Thickened skin OMIM:603554 RAG1 5896 HP:0001974 Leukocytosis OMIM:603554 RAG1 5896 HP:0002024 Malabsorption OMIM:603554 RAG1 5896 HP:0100646 Thyroiditis OMIM:603554 RAG1 5896 HP:0100806 Sepsis OMIM:603554 RAG1 5896 HP:0002014 Diarrhea OMIM:603554 RAG1 5896 HP:0004370 Abnormality of temperature regulation OMIM:603554 RAG1 5896 HP:0000969 Edema OMIM:603554 RAG1 5896 HP:0002841 Recurrent fungal infections OMIM:603554 RAG1 5896 HP:0001596 Alopecia OMIM:603554 RAG1 5896 HP:0001880 Eosinophilia OMIM:603554 RAG1 5896 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:603554 RAG1 5896 HP:0000944 Abnormality of the metaphyses OMIM:603554 RAG1 5896 HP:0002716 Lymphadenopathy OMIM:603554 RAG1 5896 HP:0002240 Hepatomegaly OMIM:603554 RAG1 5896 HP:0000821 Hypothyroidism OMIM:603554 RAG1 5896 HP:0001903 Anemia OMIM:603554 RAG1 5896 HP:0001744 Splenomegaly OMIM:603554 RAG1 5896 HP:0010976 B lymphocytopenia OMIM:603554 RAG1 5896 HP:0000958 Dry skin OMIM:603554 RAG1 5896 HP:0000100 Nephrotic syndrome OMIM:603554 RAG1 5896 HP:0003075 Hypoproteinemia OMIM:603554 RAG1 5896 HP:0000778 Hypoplasia of the thymus OMIM:603554 RAG1 5896 HP:0005365 Severe B lymphocytopenia OMIM:603554 RAG1 5896 HP:0002090 Pneumonia OMIM:603554 RAG1 5896 HP:0000989 Pruritus OMIM:603554 RAG1 5896 HP:0002960 Autoimmunity OMIM:603554 RAG1 5896 HP:0004429 Recurrent viral infections OMIM:603554 RAG1 5896 HP:0004430 Severe combined immunodeficiency OMIM:603554 RAG1 5896 HP:0002718 Recurrent bacterial infections OMIM:603554 RAG1 5896 HP:0000007 Autosomal recessive inheritance OMIM:603554 RAG1 5896 HP:0001508 Failure to thrive OMIM:603554 RAG1 5896 HP:0002665 Lymphoma OMIM:603554 RAG1 5896 HP:0001873 Thrombocytopenia OMIM:603554 RAG1 5896 HP:0001231 Abnormality of the fingernails OMIM:603554 RAG1 5896 HP:0001879 Abnormality of eosinophils OMIM:603554 RAG1 5896 HP:0001019 Erythroderma OMIM:603554 DCLRE1C 64421 HP:0001072 Thickened skin OMIM:603554 DCLRE1C 64421 HP:0001974 Leukocytosis OMIM:603554 DCLRE1C 64421 HP:0002024 Malabsorption OMIM:603554 DCLRE1C 64421 HP:0100646 Thyroiditis OMIM:603554 DCLRE1C 64421 HP:0100806 Sepsis OMIM:603554 DCLRE1C 64421 HP:0002014 Diarrhea OMIM:603554 DCLRE1C 64421 HP:0004370 Abnormality of temperature regulation OMIM:603554 DCLRE1C 64421 HP:0000969 Edema OMIM:603554 DCLRE1C 64421 HP:0002841 Recurrent fungal infections OMIM:603554 DCLRE1C 64421 HP:0001596 Alopecia OMIM:603554 DCLRE1C 64421 HP:0001880 Eosinophilia OMIM:603554 DCLRE1C 64421 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:603554 DCLRE1C 64421 HP:0000944 Abnormality of the metaphyses OMIM:603554 DCLRE1C 64421 HP:0002716 Lymphadenopathy OMIM:603554 DCLRE1C 64421 HP:0002240 Hepatomegaly OMIM:603554 DCLRE1C 64421 HP:0000821 Hypothyroidism OMIM:603554 DCLRE1C 64421 HP:0001903 Anemia OMIM:603554 DCLRE1C 64421 HP:0001744 Splenomegaly OMIM:603554 DCLRE1C 64421 HP:0010976 B lymphocytopenia OMIM:603554 DCLRE1C 64421 HP:0000958 Dry skin OMIM:603554 DCLRE1C 64421 HP:0000100 Nephrotic syndrome OMIM:603554 DCLRE1C 64421 HP:0003075 Hypoproteinemia OMIM:603554 DCLRE1C 64421 HP:0000778 Hypoplasia of the thymus OMIM:603554 DCLRE1C 64421 HP:0005365 Severe B lymphocytopenia OMIM:603554 DCLRE1C 64421 HP:0002090 Pneumonia OMIM:603554 DCLRE1C 64421 HP:0000989 Pruritus OMIM:603554 DCLRE1C 64421 HP:0002960 Autoimmunity OMIM:603554 DCLRE1C 64421 HP:0004429 Recurrent viral infections OMIM:603554 DCLRE1C 64421 HP:0004430 Severe combined immunodeficiency OMIM:603554 DCLRE1C 64421 HP:0002718 Recurrent bacterial infections OMIM:603554 DCLRE1C 64421 HP:0000007 Autosomal recessive inheritance OMIM:603554 DCLRE1C 64421 HP:0001508 Failure to thrive OMIM:603554 DCLRE1C 64421 HP:0002665 Lymphoma OMIM:603554 DCLRE1C 64421 HP:0001873 Thrombocytopenia OMIM:603554 DCLRE1C 64421 HP:0001231 Abnormality of the fingernails OMIM:603554 DCLRE1C 64421 HP:0001879 Abnormality of eosinophils OMIM:603554 DCLRE1C 64421 HP:0001019 Erythroderma OMIM:613722 PLCB1 23236 HP:0001257 Spasticity OMIM:613722 PLCB1 23236 HP:0008936 Muscular hypotonia of the trunk OMIM:613722 PLCB1 23236 HP:0002521 Hypsarrhythmia OMIM:613722 PLCB1 23236 HP:0000007 Autosomal recessive inheritance OMIM:613722 PLCB1 23236 HP:0007359 Focal seizures OMIM:613722 PLCB1 23236 HP:0001347 Hyperreflexia OMIM:613722 PLCB1 23236 HP:0200134 Epileptic encephalopathy OMIM:613722 PLCB1 23236 HP:0002197 Generalized seizures OMIM:300758 MAMLD1 10046 HP:0001419 X-linked recessive inheritance OMIM:300758 MAMLD1 10046 HP:0000808 Penoscrotal hypospadias OMIM:219900 CTNS 1497 HP:0003774 Stage 5 chronic kidney disease OMIM:219900 CTNS 1497 HP:0003358 Elevated intracellular cystine OMIM:219900 CTNS 1497 HP:0000007 Autosomal recessive inheritance OMIM:219900 CTNS 1497 HP:0000531 Corneal crystals OMIM:219900 CTNS 1497 HP:0002748 Rickets OMIM:219900 CTNS 1497 HP:0000093 Proteinuria OMIM:219900 CTNS 1497 HP:0000488 Retinopathy OMIM:219900 CTNS 1497 HP:0003621 Juvenile onset OMIM:219900 CTNS 1497 HP:0001507 Growth abnormality OMIM:613435 OPTN 10133 HP:0007354 Amyotrophic lateral sclerosis OMIM:613435 OPTN 10133 HP:0001308 Tongue fasciculations OMIM:613435 OPTN 10133 HP:0002015 Dysphagia OMIM:613435 OPTN 10133 HP:0001324 Muscle weakness OMIM:613435 OPTN 10133 HP:0001260 Dysarthria OMIM:614299 BOLA3 388962 HP:0002878 Respiratory failure OMIM:614299 BOLA3 388962 HP:0002013 Vomiting OMIM:614299 BOLA3 388962 HP:0001254 Lethargy OMIM:614299 BOLA3 388962 HP:0008972 Decreased activity of mitochondrial respiratory chain OMIM:614299 BOLA3 388962 HP:0002240 Hepatomegaly OMIM:614299 BOLA3 388962 HP:0001522 Death in infancy OMIM:614299 BOLA3 388962 HP:0001324 Muscle weakness OMIM:614299 BOLA3 388962 HP:0000007 Autosomal recessive inheritance OMIM:614299 BOLA3 388962 HP:0001250 Seizures OMIM:614299 BOLA3 388962 HP:0003128 Lactic acidosis OMIM:614299 BOLA3 388962 HP:0200134 Epileptic encephalopathy OMIM:614299 BOLA3 388962 HP:0001263 Global developmental delay OMIM:614299 BOLA3 388962 HP:0001644 Dilated cardiomyopathy OMIM:609069 PTF1A 256297 HP:0000369 Low-set ears OMIM:609069 PTF1A 256297 HP:0001387 Joint stiffness OMIM:609069 PTF1A 256297 HP:0000252 Microcephaly OMIM:609069 PTF1A 256297 HP:0000648 Optic atrophy OMIM:609069 PTF1A 256297 HP:0001002 Decreased subcutaneous fat OMIM:609069 PTF1A 256297 HP:0000331 Short chin OMIM:609069 PTF1A 256297 HP:0000325 Triangular face OMIM:609069 PTF1A 256297 HP:0001508 Failure to thrive OMIM:609069 PTF1A 256297 HP:0000768 Pectus carinatum OMIM:609069 PTF1A 256297 HP:0000609 Optic nerve hypoplasia OMIM:609069 PTF1A 256297 HP:0001684 Secundum atrial septal defect OMIM:609069 PTF1A 256297 HP:0000347 Micrognathia OMIM:609069 PTF1A 256297 HP:0000444 Convex nasal ridge OMIM:609069 PTF1A 256297 HP:0010557 Overlapping fingers OMIM:609069 PTF1A 256297 HP:0001250 Seizures OMIM:609069 PTF1A 256297 HP:0012642 Cerebellar agenesis OMIM:609069 PTF1A 256297 HP:0005978 Type II diabetes mellitus OMIM:609069 PTF1A 256297 HP:0000377 Abnormality of the pinna OMIM:609069 PTF1A 256297 HP:0000368 Low-set, posteriorly rotated ears OMIM:609069 PTF1A 256297 HP:0001732 Abnormality of the pancreas OMIM:270550 SACS 26278 HP:0000762 Decreased nerve conduction velocity OMIM:270550 SACS 26278 HP:0007922 Hypermyelinated retinal fibers OMIM:270550 SACS 26278 HP:0001761 Pes cavus OMIM:270550 SACS 26278 HP:0002936 Distal sensory impairment OMIM:270550 SACS 26278 HP:0007772 Impaired smooth pursuit OMIM:270550 SACS 26278 HP:0007221 Progressive truncal ataxia OMIM:270550 SACS 26278 HP:0002166 Impaired vibration sensation in the lower limbs OMIM:270550 SACS 26278 HP:0003487 Babinski sign OMIM:270550 SACS 26278 HP:0000012 Urinary urgency OMIM:270550 SACS 26278 HP:0007001 Loss of Purkinje cells in the cerebellar vermis OMIM:270550 SACS 26278 HP:0001347 Hyperreflexia OMIM:270550 SACS 26278 HP:0007240 Progressive gait ataxia OMIM:270550 SACS 26278 HP:0006150 Swan neck-like deformities of the fingers OMIM:270550 SACS 26278 HP:0001765 Hammertoe OMIM:270550 SACS 26278 HP:0000007 Autosomal recessive inheritance OMIM:270550 SACS 26278 HP:0000639 Nystagmus OMIM:270550 SACS 26278 HP:0006855 Cerebellar vermis atrophy OMIM:270550 SACS 26278 HP:0001249 Intellectual disability OMIM:270550 SACS 26278 HP:0007654 Retinal striation OMIM:270550 SACS 26278 HP:0002168 Scanning speech OMIM:270550 SACS 26278 HP:0003593 Infantile onset OMIM:270550 SACS 26278 HP:0002497 Spastic ataxia OMIM:270550 SACS 26278 HP:0002527 Falls OMIM:270550 SACS 26278 HP:0001310 Dysmetria OMIM:270550 SACS 26278 HP:0002460 Distal muscle weakness OMIM:270550 SACS 26278 HP:0003693 Distal amyotrophy OMIM:270550 SACS 26278 HP:0001257 Spasticity OMIM:270550 SACS 26278 HP:0003387 Decreased number of large peripheral myelinated nerve fibers OMIM:270550 SACS 26278 HP:0003448 Decreased sensory nerve conduction velocity OMIM:270550 SACS 26278 HP:0001260 Dysarthria OMIM:270550 SACS 26278 HP:0003438 Absent Achilles reflex OMIM:238320 LHCGR 3973 HP:0000837 Increased circulating gonadotropin level OMIM:238320 LHCGR 3973 HP:0000815 Hypergonadotropic hypogonadism OMIM:238320 LHCGR 3973 HP:0000007 Autosomal recessive inheritance OMIM:607832 CD2AP 23607 HP:0000790 Hematuria OMIM:607832 CD2AP 23607 HP:0000822 Hypertension OMIM:607832 CD2AP 23607 HP:0000097 Focal segmental glomerulosclerosis OMIM:607832 CD2AP 23607 HP:0000093 Proteinuria OMIM:607832 CD2AP 23607 HP:0000083 Renal insufficiency OMIM:101200 FGFR2 2263 HP:0100702 Arachnoid cyst OMIM:101200 FGFR2 2263 HP:0012368 Flat face OMIM:101200 FGFR2 2263 HP:0000193 Bifid uvula OMIM:101200 FGFR2 2263 HP:0000238 Hydrocephalus OMIM:101200 FGFR2 2263 HP:0100543 Cognitive impairment OMIM:101200 FGFR2 2263 HP:0001274 Agenesis of corpus callosum OMIM:101200 FGFR2 2263 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:101200 FGFR2 2263 HP:0001629 Ventricular septal defect OMIM:101200 FGFR2 2263 HP:0000822 Hypertension OMIM:101200 FGFR2 2263 HP:0007343 Limbic malformations OMIM:101200 FGFR2 2263 HP:0007291 Posterior fossa cyst OMIM:101200 FGFR2 2263 HP:0200020 Corneal erosion OMIM:101200 FGFR2 2263 HP:0001177 Preaxial hand polydactyly OMIM:101200 FGFR2 2263 HP:0001507 Growth abnormality OMIM:101200 FGFR2 2263 HP:0000684 Delayed eruption of teeth OMIM:101200 FGFR2 2263 HP:0005048 Synostosis of carpal bones OMIM:101200 FGFR2 2263 HP:0003041 Humeroradial synostosis OMIM:101200 FGFR2 2263 HP:0002623 Overriding aorta OMIM:101200 FGFR2 2263 HP:0100615 Ovarian neoplasm OMIM:101200 FGFR2 2263 HP:0011800 Midface retrusion OMIM:101200 FGFR2 2263 HP:0002308 Arnold-Chiari malformation OMIM:101200 FGFR2 2263 HP:0001355 Megalencephaly OMIM:101200 FGFR2 2263 HP:0002564 Malformation of the heart and great vessels OMIM:101200 FGFR2 2263 HP:0000494 Downslanted palpebral fissures OMIM:101200 FGFR2 2263 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:101200 FGFR2 2263 HP:0000407 Sensorineural hearing impairment OMIM:101200 FGFR2 2263 HP:0004397 Ectopic anus OMIM:101200 FGFR2 2263 HP:0000453 Choanal atresia OMIM:101200 FGFR2 2263 HP:0010554 Cutaneous finger syndactyly OMIM:101200 FGFR2 2263 HP:0000244 Brachyturricephaly OMIM:101200 FGFR2 2263 HP:0000505 Visual impairment OMIM:101200 FGFR2 2263 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:101200 FGFR2 2263 HP:0000272 Malar flattening OMIM:101200 FGFR2 2263 HP:0002032 Esophageal atresia OMIM:101200 FGFR2 2263 HP:0005280 Depressed nasal bridge OMIM:101200 FGFR2 2263 HP:0000389 Chronic otitis media OMIM:101200 FGFR2 2263 HP:0000324 Facial asymmetry OMIM:101200 FGFR2 2263 HP:0004468 Anomalous tracheal cartilage OMIM:101200 FGFR2 2263 HP:0002119 Ventriculomegaly OMIM:101200 FGFR2 2263 HP:0000444 Convex nasal ridge OMIM:101200 FGFR2 2263 HP:0002093 Respiratory insufficiency OMIM:101200 FGFR2 2263 HP:0000303 Mandibular prognathia OMIM:101200 FGFR2 2263 HP:0003422 Vertebral segmentation defect OMIM:101200 FGFR2 2263 HP:0004487 Acrobrachycephaly OMIM:101200 FGFR2 2263 HP:0000028 Cryptorchidism OMIM:101200 FGFR2 2263 HP:0001331 Absent septum pellucidum OMIM:101200 FGFR2 2263 HP:0000348 High forehead OMIM:101200 FGFR2 2263 HP:0000239 Large fontanelles OMIM:101200 FGFR2 2263 HP:0000405 Conductive hearing impairment OMIM:101200 FGFR2 2263 HP:0000689 Dental malocclusion OMIM:101200 FGFR2 2263 HP:0008111 Broad distal hallux OMIM:101200 FGFR2 2263 HP:0004440 Coronal craniosynostosis OMIM:101200 FGFR2 2263 HP:0000337 Broad forehead OMIM:101200 FGFR2 2263 HP:0000586 Shallow orbits OMIM:101200 FGFR2 2263 HP:0000316 Hypertelorism OMIM:101200 FGFR2 2263 HP:0000006 Autosomal dominant inheritance OMIM:101200 FGFR2 2263 HP:0000365 Hearing impairment OMIM:101200 FGFR2 2263 HP:0002021 Pyloric stenosis OMIM:101200 FGFR2 2263 HP:0009826 Limb undergrowth OMIM:101200 FGFR2 2263 HP:0002007 Frontal bossing OMIM:101200 FGFR2 2263 HP:0004635 Cervical vertebrae fusion (C5/C6) OMIM:101200 FGFR2 2263 HP:0000648 Optic atrophy OMIM:101200 FGFR2 2263 HP:0009642 Broad distal phalanx of the thumb OMIM:101200 FGFR2 2263 HP:0000486 Strabismus OMIM:101200 FGFR2 2263 HP:0001770 Toe syndactyly OMIM:101200 FGFR2 2263 HP:0000175 Cleft palate OMIM:101200 FGFR2 2263 HP:0001162 Postaxial hand polydactyly OMIM:101200 FGFR2 2263 HP:0007099 Arnold-Chiari type I malformation OMIM:101200 FGFR2 2263 HP:0000452 Choanal stenosis OMIM:101200 FGFR2 2263 HP:0002676 Cloverleaf skull OMIM:101200 FGFR2 2263 HP:0000148 Vaginal atresia OMIM:101200 FGFR2 2263 HP:0001249 Intellectual disability OMIM:101200 FGFR2 2263 HP:0000189 Narrow palate OMIM:101200 FGFR2 2263 HP:0000520 Proptosis OMIM:101200 FGFR2 2263 HP:0000126 Hydronephrosis OMIM:101200 FGFR2 2263 HP:0001061 Acne OMIM:101200 FGFR2 2263 HP:0000270 Delayed cranial suture closure OMIM:300491 SYN1 6853 HP:0000256 Macrocephaly OMIM:300491 SYN1 6853 HP:0007359 Focal seizures OMIM:300491 SYN1 6853 HP:0000718 Aggressive behavior OMIM:300491 SYN1 6853 HP:0000729 Autistic behavior OMIM:300491 SYN1 6853 HP:0001423 X-linked dominant inheritance OMIM:300491 SYN1 6853 HP:0001419 X-linked recessive inheritance OMIM:300491 SYN1 6853 HP:0001328 Specific learning disability OMIM:300491 SYN1 6853 HP:0100543 Cognitive impairment OMIM:303700 OPN1MW 2652 HP:0001419 X-linked recessive inheritance OMIM:303700 OPN1MW 2652 HP:0007939 Blue cone monochromacy OMIM:303700 OPN1MW 2652 HP:0000551 Abnormality of color vision OMIM:303700 OPN1MW 2652 HP:0000512 Abnormal electroretinogram OMIM:303700 OPN1MW 2652 HP:0001131 Corneal dystrophy OMIM:303700 OPN1MW 2652 HP:0000505 Visual impairment OMIM:303700 OPN1MW 2652 HP:0000613 Photophobia OMIM:303700 OPN1MW 2652 HP:0000639 Nystagmus OMIM:303700 OPN1MW 2652 HP:0000545 Myopia OMIM:303700 OPN1MW 2652 HP:0007703 Abnormal retinal pigmentation OMIM:303700 OPN1MW 2652 HP:0008002 Abnormality of macular pigmentation OMIM:303700 OPN1LW 5956 HP:0001419 X-linked recessive inheritance OMIM:303700 OPN1LW 5956 HP:0007939 Blue cone monochromacy OMIM:303700 OPN1LW 5956 HP:0000551 Abnormality of color vision OMIM:303700 OPN1LW 5956 HP:0000512 Abnormal electroretinogram OMIM:303700 OPN1LW 5956 HP:0001131 Corneal dystrophy OMIM:303700 OPN1LW 5956 HP:0000505 Visual impairment OMIM:303700 OPN1LW 5956 HP:0000613 Photophobia OMIM:303700 OPN1LW 5956 HP:0000639 Nystagmus OMIM:303700 OPN1LW 5956 HP:0000545 Myopia OMIM:303700 OPN1LW 5956 HP:0007703 Abnormal retinal pigmentation OMIM:303700 OPN1LW 5956 HP:0008002 Abnormality of macular pigmentation OMIM:610682 CRTAP 10491 HP:0000592 Blue sclerae OMIM:610682 CRTAP 10491 HP:0008905 Rhizomelia OMIM:610682 CRTAP 10491 HP:0001522 Death in infancy OMIM:610682 CRTAP 10491 HP:0000520 Proptosis OMIM:610682 CRTAP 10491 HP:0004960 Absent pulmonary artery OMIM:610682 CRTAP 10491 HP:0000938 Osteopenia OMIM:610682 CRTAP 10491 HP:0000270 Delayed cranial suture closure OMIM:610682 CRTAP 10491 HP:0002812 Coxa vara OMIM:610682 CRTAP 10491 HP:0000311 Round face OMIM:610682 CRTAP 10491 HP:0010537 Wide cranial sutures OMIM:610682 CRTAP 10491 HP:0002983 Micromelia OMIM:610682 CRTAP 10491 HP:0000260 Wide anterior fontanel OMIM:610682 CRTAP 10491 HP:0003179 Protrusio acetabuli OMIM:610682 CRTAP 10491 HP:0005304 Hypoplastic pulmonary veins OMIM:610682 CRTAP 10491 HP:0000767 Pectus excavatum OMIM:610682 CRTAP 10491 HP:0006367 Crumpled long bones OMIM:610682 CRTAP 10491 HP:0002650 Scoliosis OMIM:610682 CRTAP 10491 HP:0005855 Multiple prenatal fractures OMIM:610682 CRTAP 10491 HP:0000007 Autosomal recessive inheritance OMIM:610682 CRTAP 10491 HP:0002979 Bowing of the legs OMIM:610682 CRTAP 10491 HP:0005474 Decreased calvarial ossification OMIM:610682 CRTAP 10491 HP:0002645 Wormian bones OMIM:610682 CRTAP 10491 HP:0000774 Narrow chest OMIM:610682 CRTAP 10491 HP:0002953 Vertebral compression fractures OMIM:610682 CRTAP 10491 HP:0001623 Breech presentation OMIM:610682 CRTAP 10491 HP:0003783 Externally rotated/abducted legs OMIM:610682 CRTAP 10491 HP:0000343 Long philtrum OMIM:610682 CRTAP 10491 HP:0000126 Hydronephrosis OMIM:610682 CRTAP 10491 HP:0002757 Recurrent fractures OMIM:610682 CRTAP 10491 HP:0006640 Multiple rib fractures OMIM:608553 NMNAT1 64802 HP:0001116 Macular coloboma OMIM:608553 NMNAT1 64802 HP:0000648 Optic atrophy OMIM:608553 NMNAT1 64802 HP:0000613 Photophobia OMIM:608553 NMNAT1 64802 HP:0000540 Hypermetropia OMIM:608553 NMNAT1 64802 HP:0007843 Attenuation of retinal blood vessels OMIM:608553 NMNAT1 64802 HP:0000007 Autosomal recessive inheritance OMIM:608553 NMNAT1 64802 HP:0000543 Optic disc pallor OMIM:608553 NMNAT1 64802 HP:0000639 Nystagmus OMIM:608553 NMNAT1 64802 HP:0000662 Night blindness OMIM:300200 NR0B1 190 HP:0004319 Hypoaldosteronism OMIM:300200 NR0B1 190 HP:0000823 Delayed puberty OMIM:300200 NR0B1 190 HP:0000028 Cryptorchidism OMIM:300200 NR0B1 190 HP:0000127 Renal salt wasting OMIM:300200 NR0B1 190 HP:0003560 Muscular dystrophy OMIM:300200 NR0B1 190 HP:0008220 Hypocortisolemia OMIM:300200 NR0B1 190 HP:0001944 Dehydration OMIM:300200 NR0B1 190 HP:0002902 Hyponatremia OMIM:300200 NR0B1 190 HP:0000835 Adrenal hypoplasia OMIM:300200 NR0B1 190 HP:0008197 Absence of pubertal development OMIM:300200 NR0B1 190 HP:0003335 Low gonadotropins (secondary hypogonadism) OMIM:300200 NR0B1 190 HP:0000953 Hyperpigmentation of the skin OMIM:300200 NR0B1 190 HP:0000044 Hypogonadotrophic hypogonadism OMIM:300200 NR0B1 190 HP:0001419 X-linked recessive inheritance OMIM:300200 NR0B1 190 HP:0001508 Failure to thrive OMIM:262000 BCS1L 617 HP:0001596 Alopecia OMIM:262000 BCS1L 617 HP:0003777 Pili torti OMIM:262000 BCS1L 617 HP:0003828 Variable expressivity OMIM:262000 BCS1L 617 HP:0000970 Anhidrosis OMIM:262000 BCS1L 617 HP:0001249 Intellectual disability OMIM:262000 BCS1L 617 HP:0002299 Brittle hair OMIM:262000 BCS1L 617 HP:0000007 Autosomal recessive inheritance OMIM:262000 BCS1L 617 HP:0003329 Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes OMIM:262000 BCS1L 617 HP:0000407 Sensorineural hearing impairment OMIM:262000 BCS1L 617 HP:0002208 Coarse hair OMIM:262000 BCS1L 617 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:262000 BCS1L 617 HP:0000998 Hypertrichosis OMIM:262000 BCS1L 617 HP:0011359 Dry hair OMIM:262000 BCS1L 617 HP:0000499 Abnormality of the eyelashes OMIM:262000 BCS1L 617 HP:0000135 Hypogonadism OMIM:221900 ATOH7 220202 HP:0000557 Buphthalmos OMIM:221900 ATOH7 220202 HP:0000568 Microphthalmos OMIM:221900 ATOH7 220202 HP:0000555 Leukocoria OMIM:221900 ATOH7 220202 HP:0007899 Retinal nonattachment OMIM:221900 ATOH7 220202 HP:0000482 Microcornea OMIM:221900 ATOH7 220202 HP:0000518 Cataract OMIM:221900 ATOH7 220202 HP:0000594 Shallow anterior chamber OMIM:221900 ATOH7 220202 HP:0000612 Iris coloboma OMIM:221900 ATOH7 220202 HP:0011886 Hyphema OMIM:221900 ATOH7 220202 HP:0000554 Uveitis OMIM:221900 ATOH7 220202 HP:0011484 Posterior synechiae of the anterior chamber OMIM:221900 ATOH7 220202 HP:0012043 Pendular nystagmus OMIM:221900 ATOH7 220202 HP:0007968 Persistent hyperplastic primary vitreous OMIM:221900 ATOH7 220202 HP:0009917 Persistent pupillary membrane OMIM:221900 ATOH7 220202 HP:0000007 Autosomal recessive inheritance OMIM:221900 ATOH7 220202 HP:0000565 Esotropia OMIM:221900 ATOH7 220202 HP:0007957 Corneal opacity OMIM:221900 ATOH7 220202 HP:0000667 Phthisis bulbi OMIM:613612 COG5 10466 HP:0002078 Truncal ataxia OMIM:613612 COG5 10466 HP:0001249 Intellectual disability OMIM:613612 COG5 10466 HP:0003642 Type I transferrin isoform profile OMIM:613612 COG5 10466 HP:0001272 Cerebellar atrophy OMIM:613612 COG5 10466 HP:0001252 Muscular hypotonia OMIM:613612 COG5 10466 HP:0000007 Autosomal recessive inheritance OMIM:613612 COG5 10466 HP:0007366 Atrophy/Degeneration affecting the brainstem OMIM:156400 PTH1R 5745 HP:0100530 Abnormality of calcium-phosphate metabolism OMIM:156400 PTH1R 5745 HP:0003072 Hypercalcemia OMIM:156400 PTH1R 5745 HP:0003026 Short long bone OMIM:156400 PTH1R 5745 HP:0000692 Misalignment of teeth OMIM:156400 PTH1R 5745 HP:0004493 Craniofacial hyperostosis OMIM:156400 PTH1R 5745 HP:0000774 Narrow chest OMIM:156400 PTH1R 5745 HP:0003155 Elevated alkaline phosphatase OMIM:156400 PTH1R 5745 HP:0003510 Severe short stature OMIM:156400 PTH1R 5745 HP:0000453 Choanal atresia OMIM:156400 PTH1R 5745 HP:0000316 Hypertelorism OMIM:156400 PTH1R 5745 HP:0000773 Short ribs OMIM:156400 PTH1R 5745 HP:0003273 Hip contracture OMIM:156400 PTH1R 5745 HP:0000829 Hypoparathyroidism OMIM:156400 PTH1R 5745 HP:0000520 Proptosis OMIM:156400 PTH1R 5745 HP:0002737 Thick skull base OMIM:156400 PTH1R 5745 HP:0000006 Autosomal dominant inheritance OMIM:156400 PTH1R 5745 HP:0002148 Hypophosphatemia OMIM:156400 PTH1R 5745 HP:0004676 Prominent supraorbital arches in adult OMIM:156400 PTH1R 5745 HP:0005871 Metaphyseal chondrodysplasia OMIM:156400 PTH1R 5745 HP:0004209 Clinodactyly of the 5th finger OMIM:156400 PTH1R 5745 HP:0006487 Bowing of the long bones OMIM:156400 PTH1R 5745 HP:0002007 Frontal bossing OMIM:156400 PTH1R 5745 HP:0003109 Hyperphosphaturia OMIM:156400 PTH1R 5745 HP:0000347 Micrognathia OMIM:156400 PTH1R 5745 HP:0006380 Knee flexion contracture OMIM:156400 PTH1R 5745 HP:0000248 Brachycephaly OMIM:156400 PTH1R 5745 HP:0100759 Clubbing of fingers OMIM:156400 PTH1R 5745 HP:0002983 Micromelia OMIM:156400 PTH1R 5745 HP:0000452 Choanal stenosis OMIM:156400 PTH1R 5745 HP:0003021 Metaphyseal cupping OMIM:156400 PTH1R 5745 HP:0000938 Osteopenia OMIM:156400 PTH1R 5745 HP:0001156 Brachydactyly syndrome OMIM:156400 PTH1R 5745 HP:0002515 Waddling gait OMIM:156400 PTH1R 5745 HP:0002756 Pathologic fracture OMIM:156400 PTH1R 5745 HP:0000121 Nephrocalcinosis OMIM:156400 PTH1R 5745 HP:0002150 Hypercalciuria OMIM:156400 PTH1R 5745 HP:0000407 Sensorineural hearing impairment OMIM:156400 PTH1R 5745 HP:0011001 Increased bone mineral density OMIM:612304 PROC 5624 HP:0002204 Pulmonary embolism OMIM:612304 PROC 5624 HP:0001250 Seizures OMIM:612304 PROC 5624 HP:0001263 Global developmental delay OMIM:612304 PROC 5624 HP:0005543 Reduced protein C activity OMIM:612304 PROC 5624 HP:0000007 Autosomal recessive inheritance OMIM:612304 PROC 5624 HP:0007902 Vitreous hemorrhage OMIM:612304 PROC 5624 HP:0000979 Purpura OMIM:612304 PROC 5624 HP:0002638 Superficial thrombophlebitis OMIM:612304 PROC 5624 HP:0003828 Variable expressivity OMIM:612304 PROC 5624 HP:0100724 Hypercoagulability OMIM:612304 PROC 5624 HP:0002625 Deep venous thrombosis OMIM:192500 KCNQ1 3784 HP:0001663 Ventricular fibrillation OMIM:192500 KCNQ1 3784 HP:0001279 Syncope OMIM:192500 KCNQ1 3784 HP:0000598 Abnormality of the ear OMIM:192500 KCNQ1 3784 HP:0001664 Torsade de pointes OMIM:192500 KCNQ1 3784 HP:0000006 Autosomal dominant inheritance OMIM:192500 KCNQ1 3784 HP:0001657 Prolonged QT interval OMIM:192500 KCNQ1 3784 HP:0001645 Sudden cardiac death OMIM:192500 KCNQ1 3784 HP:0001425 Heterogeneous OMIM:615327 POFUT1 23509 HP:0000006 Autosomal dominant inheritance OMIM:110100 FOXL2 668 HP:0008209 Premature ovarian failure OMIM:110100 FOXL2 668 HP:0000837 Increased circulating gonadotropin level OMIM:110100 FOXL2 668 HP:0000506 Telecanthus OMIM:110100 FOXL2 668 HP:0000144 Decreased fertility OMIM:110100 FOXL2 668 HP:0000141 Amenorrhea OMIM:110100 FOXL2 668 HP:0000664 Synophrys OMIM:110100 FOXL2 668 HP:0000508 Ptosis OMIM:110100 FOXL2 668 HP:0000540 Hypermetropia OMIM:110100 FOXL2 668 HP:0000482 Microcornea OMIM:110100 FOXL2 668 HP:0000431 Wide nasal bridge OMIM:110100 FOXL2 668 HP:0000545 Myopia OMIM:110100 FOXL2 668 HP:0000486 Strabismus OMIM:110100 FOXL2 668 HP:0000639 Nystagmus OMIM:110100 FOXL2 668 HP:0008222 Female infertility OMIM:110100 FOXL2 668 HP:0005280 Depressed nasal bridge OMIM:110100 FOXL2 668 HP:0000581 Blepharophimosis OMIM:110100 FOXL2 668 HP:0000632 Lacrimation abnormality OMIM:110100 FOXL2 668 HP:0001595 Abnormality of the hair OMIM:110100 FOXL2 668 HP:0000006 Autosomal dominant inheritance OMIM:110100 FOXL2 668 HP:0000378 Cupped ear OMIM:110100 FOXL2 668 HP:0000769 Abnormality of the breast OMIM:110100 FOXL2 668 HP:0000537 Epicanthus inversus OMIM:110100 FOXL2 668 HP:0000218 High palate OMIM:110100 FOXL2 668 HP:0000568 Microphthalmos OMIM:110100 FOXL2 668 HP:0000286 Epicanthus OMIM:612712 RDH12 145226 HP:0000556 Retinal dystrophy OMIM:612712 RDH12 145226 HP:0000007 Autosomal recessive inheritance OMIM:230000 FUCA1 2517 HP:0100790 Hernia OMIM:230000 FUCA1 2517 HP:0002205 Recurrent respiratory infections OMIM:230000 FUCA1 2517 HP:0002007 Frontal bossing OMIM:230000 FUCA1 2517 HP:0000445 Wide nose OMIM:230000 FUCA1 2517 HP:0000821 Hypothyroidism OMIM:230000 FUCA1 2517 HP:0001744 Splenomegaly OMIM:230000 FUCA1 2517 HP:0000365 Hearing impairment OMIM:230000 FUCA1 2517 HP:0004322 Short stature OMIM:230000 FUCA1 2517 HP:0002240 Hepatomegaly OMIM:230000 FUCA1 2517 HP:0007759 Opacification of the corneal stroma OMIM:230000 FUCA1 2517 HP:0000007 Autosomal recessive inheritance OMIM:230000 FUCA1 2517 HP:0001249 Intellectual disability OMIM:230000 FUCA1 2517 HP:0002510 Spastic tetraplegia OMIM:230000 FUCA1 2517 HP:0002673 Coxa valga OMIM:230000 FUCA1 2517 HP:0002650 Scoliosis OMIM:230000 FUCA1 2517 HP:0000179 Thick lower lip vermilion OMIM:230000 FUCA1 2517 HP:0003202 Skeletal muscle atrophy OMIM:230000 FUCA1 2517 HP:0004298 Abnormality of the abdominal wall OMIM:230000 FUCA1 2517 HP:0001597 Abnormality of the nail OMIM:230000 FUCA1 2517 HP:0000280 Coarse facial features OMIM:230000 FUCA1 2517 HP:0011220 Prominent forehead OMIM:230000 FUCA1 2517 HP:0001640 Cardiomegaly OMIM:230000 FUCA1 2517 HP:0008430 Anterior beaking of lumbar vertebrae OMIM:230000 FUCA1 2517 HP:0001252 Muscular hypotonia OMIM:230000 FUCA1 2517 HP:0005264 Abnormality of the gallbladder OMIM:230000 FUCA1 2517 HP:0012236 Elevated sweat chloride OMIM:230000 FUCA1 2517 HP:0000164 Abnormality of the teeth OMIM:230000 FUCA1 2517 HP:0001014 Angiokeratoma OMIM:230000 FUCA1 2517 HP:0001271 Polyneuropathy OMIM:230000 FUCA1 2517 HP:0000316 Hypertelorism OMIM:230000 FUCA1 2517 HP:0002808 Kyphosis OMIM:230000 FUCA1 2517 HP:0004558 Cervical platyspondyly OMIM:230000 FUCA1 2517 HP:0001276 Hypertonia OMIM:230000 FUCA1 2517 HP:0100543 Cognitive impairment OMIM:230000 FUCA1 2517 HP:0000943 Dysostosis multiplex OMIM:230000 FUCA1 2517 HP:0001250 Seizures OMIM:230000 FUCA1 2517 HP:0002938 Lumbar hyperlordosis OMIM:230000 FUCA1 2517 HP:0004374 Hemiplegia/hemiparesis OMIM:230000 FUCA1 2517 HP:0000975 Hyperhidrosis OMIM:230000 FUCA1 2517 HP:0001922 Vacuolated lymphocytes OMIM:230000 FUCA1 2517 HP:0007256 Abnormal pyramidal signs OMIM:230000 FUCA1 2517 HP:0001552 Barrel-shaped chest OMIM:230000 FUCA1 2517 HP:0100578 Lipoatrophy OMIM:230000 FUCA1 2517 HP:0000958 Dry skin OMIM:230000 FUCA1 2517 HP:0001371 Flexion contracture OMIM:230000 FUCA1 2517 HP:0005453 Absent/hypoplastic paranasal sinuses OMIM:230000 FUCA1 2517 HP:0008155 Mucopolysacchariduria OMIM:230000 FUCA1 2517 HP:0000962 Hyperkeratosis OMIM:230000 FUCA1 2517 HP:0000158 Macroglossia OMIM:230000 FUCA1 2517 HP:0010471 Oligosacchariduria OMIM:230000 FUCA1 2517 HP:0002059 Cerebral atrophy OMIM:230000 FUCA1 2517 HP:0004630 Anterior beaking of thoracic vertebrae OMIM:230000 FUCA1 2517 HP:0001063 Acrocyanosis OMIM:230000 FUCA1 2517 HP:0008436 Absent/hypoplastic coccyx OMIM:230000 FUCA1 2517 HP:0000503 Tortuosity of conjunctival vessels OMIM:230000 FUCA1 2517 HP:0000574 Thick eyebrow OMIM:230000 FUCA1 2517 HP:0000970 Anhidrosis OMIM:230000 FUCA1 2517 HP:0000914 Shield chest OMIM:230000 FUCA1 2517 HP:0002652 Skeletal dysplasia OMIM:609161 PDE8B 8622 HP:0040140 Degeneration of the striatum OMIM:609161 PDE8B 8622 HP:0001376 Limitation of joint mobility OMIM:609161 PDE8B 8622 HP:0000163 Abnormality of the oral cavity OMIM:609161 PDE8B 8622 HP:0002067 Bradykinesia OMIM:609161 PDE8B 8622 HP:0002395 Lower limb hyperreflexia OMIM:609161 PDE8B 8622 HP:0001288 Gait disturbance OMIM:609161 PDE8B 8622 HP:0002375 Hypokinesia OMIM:609161 PDE8B 8622 HP:0002075 Dysdiadochokinesis OMIM:609161 PDE8B 8622 HP:0000006 Autosomal dominant inheritance OMIM:609161 PDE8B 8622 HP:0003011 Abnormality of the musculature OMIM:609161 PDE8B 8622 HP:0002063 Rigidity OMIM:609161 PDE8B 8622 HP:0001260 Dysarthria OMIM:609161 PDE8B 8622 HP:0007039 Symmetric lesions of the basal ganglia OMIM:609161 PDE8B 8622 HP:0003677 Slow progression OMIM:203750 ACAT1 38 HP:0002013 Vomiting OMIM:203750 ACAT1 38 HP:0001249 Intellectual disability OMIM:203750 ACAT1 38 HP:0000007 Autosomal recessive inheritance OMIM:203750 ACAT1 38 HP:0001944 Dehydration OMIM:203750 ACAT1 38 HP:0005974 Episodic ketoacidosis OMIM:613385 ITCH 83737 HP:0012385 Camptodactyly OMIM:613385 ITCH 83737 HP:0002240 Hepatomegaly OMIM:613385 ITCH 83737 HP:0000369 Low-set ears OMIM:613385 ITCH 83737 HP:0001744 Splenomegaly OMIM:613385 ITCH 83737 HP:0000268 Dolichocephaly OMIM:613385 ITCH 83737 HP:0000358 Posteriorly rotated ears OMIM:613385 ITCH 83737 HP:0002960 Autoimmunity OMIM:613385 ITCH 83737 HP:0000269 Prominent occiput OMIM:613385 ITCH 83737 HP:0000520 Proptosis OMIM:613385 ITCH 83737 HP:0001263 Global developmental delay OMIM:613385 ITCH 83737 HP:0002028 Chronic diarrhea OMIM:613385 ITCH 83737 HP:0030084 Clinodactyly OMIM:613385 ITCH 83737 HP:0001999 Abnormal facial shape OMIM:613385 ITCH 83737 HP:0002007 Frontal bossing OMIM:613385 ITCH 83737 HP:0004482 Relative macrocephaly OMIM:613385 ITCH 83737 HP:0000007 Autosomal recessive inheritance OMIM:613385 ITCH 83737 HP:0000331 Short chin OMIM:113200 HOXD13 3239 HP:0010077 Broad distal phalanx of the hallux OMIM:113200 HOXD13 3239 HP:0000006 Autosomal dominant inheritance OMIM:113200 HOXD13 3239 HP:0005627 Type D brachydactyly OMIM:113200 HOXD13 3239 HP:0009642 Broad distal phalanx of the thumb OMIM:300321 FLNA 2316 HP:0011246 Underdeveloped superior crus of antihelix OMIM:300321 FLNA 2316 HP:0001319 Neonatal hypotonia OMIM:300321 FLNA 2316 HP:0001417 X-linked inheritance OMIM:300321 FLNA 2316 HP:0000750 Delayed speech and language development OMIM:300321 FLNA 2316 HP:0002019 Constipation OMIM:300321 FLNA 2316 HP:0002003 Large forehead OMIM:615935 PTF1A 256297 HP:0001518 Small for gestational age OMIM:615935 PTF1A 256297 HP:0002570 Steatorrhea OMIM:614874 DNAAF5 54919 HP:0200073 Respiratory insufficiency due to defective ciliary clearance OMIM:614874 DNAAF5 54919 HP:0012265 Ciliary dyskinesia OMIM:614874 DNAAF5 54919 HP:0002093 Respiratory insufficiency OMIM:614874 DNAAF5 54919 HP:0012384 Rhinitis OMIM:614874 DNAAF5 54919 HP:0000007 Autosomal recessive inheritance OMIM:614874 DNAAF5 54919 HP:0012262 Abnormal ciliary motility OMIM:614874 DNAAF5 54919 HP:0003593 Infantile onset OMIM:614874 DNAAF5 54919 HP:0001696 Situs inversus totalis OMIM:614874 DNAAF5 54919 HP:0000403 Recurrent otitis media OMIM:614874 DNAAF5 54919 HP:0003251 Male infertility OMIM:614874 DNAAF5 54919 HP:0004469 Chronic bronchitis OMIM:614874 DNAAF5 54919 HP:0012256 Absent outer dynein arms OMIM:614874 DNAAF5 54919 HP:0011108 Recurrent sinusitis OMIM:614874 DNAAF5 54919 HP:0012208 Nonmotile sperm OMIM:121300 CPOX 1371 HP:0002902 Hyponatremia OMIM:121300 CPOX 1371 HP:0011999 Paranoia OMIM:121300 CPOX 1371 HP:0002019 Constipation OMIM:121300 CPOX 1371 HP:0002240 Hepatomegaly OMIM:121300 CPOX 1371 HP:0003489 Acute episodes of neuropathic symptoms OMIM:121300 CPOX 1371 HP:0006597 Diaphragmatic paralysis OMIM:121300 CPOX 1371 HP:0002013 Vomiting OMIM:121300 CPOX 1371 HP:0000716 Depression OMIM:121300 CPOX 1371 HP:0002014 Diarrhea OMIM:121300 CPOX 1371 HP:0000992 Cutaneous photosensitivity OMIM:121300 CPOX 1371 HP:0007440 Generalized hyperpigmentation OMIM:121300 CPOX 1371 HP:0000738 Hallucinations OMIM:121300 CPOX 1371 HP:0001939 Abnormality of metabolism/homeostasis OMIM:121300 CPOX 1371 HP:0009830 Peripheral neuropathy OMIM:121300 CPOX 1371 HP:0002027 Abdominal pain OMIM:121300 CPOX 1371 HP:0002829 Arthralgia OMIM:121300 CPOX 1371 HP:0002017 Nausea and vomiting OMIM:121300 CPOX 1371 HP:0003829 Incomplete penetrance OMIM:121300 CPOX 1371 HP:0000952 Jaundice OMIM:121300 CPOX 1371 HP:0003326 Myalgia OMIM:121300 CPOX 1371 HP:0000006 Autosomal dominant inheritance OMIM:121300 CPOX 1371 HP:0000739 Anxiety OMIM:121300 CPOX 1371 HP:0002203 Respiratory paralysis OMIM:121300 CPOX 1371 HP:0000822 Hypertension OMIM:121300 CPOX 1371 HP:0001744 Splenomegaly OMIM:121300 CPOX 1371 HP:0004804 Congenital hemolytic anemia OMIM:121300 CPOX 1371 HP:0004372 Reduced consciousness/confusion OMIM:121300 CPOX 1371 HP:0000963 Thin skin OMIM:121300 CPOX 1371 HP:0001289 Confusion OMIM:121300 CPOX 1371 HP:0001649 Tachycardia OMIM:121300 CPOX 1371 HP:0008066 Abnormal blistering of the skin OMIM:121300 CPOX 1371 HP:0100785 Insomnia OMIM:137940 SOX18 54345 HP:0001006 Hypotrichosis OMIM:137940 SOX18 54345 HP:0000006 Autosomal dominant inheritance OMIM:137940 SOX18 54345 HP:0002223 Absent eyebrow OMIM:137940 SOX18 54345 HP:0000083 Renal insufficiency OMIM:137940 SOX18 54345 HP:0000790 Hematuria OMIM:137940 SOX18 54345 HP:0001596 Alopecia OMIM:137940 SOX18 54345 HP:0003189 Long nose OMIM:137940 SOX18 54345 HP:0000426 Prominent nasal bridge OMIM:137940 SOX18 54345 HP:0000286 Epicanthus OMIM:137940 SOX18 54345 HP:0000535 Sparse eyebrow OMIM:137940 SOX18 54345 HP:0000653 Sparse eyelashes OMIM:137940 SOX18 54345 HP:0000303 Mandibular prognathia OMIM:137940 SOX18 54345 HP:0000431 Wide nasal bridge OMIM:137940 SOX18 54345 HP:0100820 Glomerulopathy OMIM:137940 SOX18 54345 HP:0011362 Abnormal hair quantity OMIM:137940 SOX18 54345 HP:0003758 Reduced subcutaneous adipose tissue OMIM:137940 SOX18 54345 HP:0007621 Telangiectasia of extensor surfaces OMIM:137940 SOX18 54345 HP:0001480 Freckling OMIM:137940 SOX18 54345 HP:0000316 Hypertelorism OMIM:137940 SOX18 54345 HP:0002021 Pyloric stenosis OMIM:137940 SOX18 54345 HP:0100543 Cognitive impairment OMIM:137940 SOX18 54345 HP:0000300 Oval face OMIM:137940 SOX18 54345 HP:0001002 Decreased subcutaneous fat OMIM:137940 SOX18 54345 HP:0100540 Palpebral edema OMIM:137940 SOX18 54345 HP:0012471 Thick vermilion border OMIM:137940 SOX18 54345 HP:0000822 Hypertension OMIM:137940 SOX18 54345 HP:0007543 Epidermal hyperkeratosis OMIM:137940 SOX18 54345 HP:0000093 Proteinuria OMIM:137940 SOX18 54345 HP:0000034 Hydrocele testis OMIM:137940 SOX18 54345 HP:0007495 Prematurely aged appearance OMIM:137940 SOX18 54345 HP:0000561 Absent eyelashes OMIM:137940 SOX18 54345 HP:0000793 Membranoproliferative glomerulonephritis OMIM:137940 SOX18 54345 HP:0005598 Facial telangiectasia in butterfly midface distribution OMIM:137940 SOX18 54345 HP:0004322 Short stature OMIM:606658 ITPR1 3708 HP:0000641 Dysmetric saccades OMIM:606658 ITPR1 3708 HP:0001272 Cerebellar atrophy OMIM:606658 ITPR1 3708 HP:0002070 Limb ataxia OMIM:606658 ITPR1 3708 HP:0007979 Gaze-evoked horizontal nystagmus OMIM:606658 ITPR1 3708 HP:0003621 Juvenile onset OMIM:606658 ITPR1 3708 HP:0001347 Hyperreflexia OMIM:606658 ITPR1 3708 HP:0002168 Scanning speech OMIM:606658 ITPR1 3708 HP:0001260 Dysarthria OMIM:606658 ITPR1 3708 HP:0000006 Autosomal dominant inheritance OMIM:606658 ITPR1 3708 HP:0002078 Truncal ataxia OMIM:606658 ITPR1 3708 HP:0007772 Impaired smooth pursuit OMIM:606658 ITPR1 3708 HP:0003677 Slow progression OMIM:606658 ITPR1 3708 HP:0002066 Gait ataxia OMIM:606658 ITPR1 3708 HP:0003581 Adult onset OMIM:606658 ITPR1 3708 HP:0002174 Postural tremor OMIM:278800 ERCC6 2074 HP:0008639 Gonadal hypoplasia OMIM:278800 ERCC6 2074 HP:0001251 Ataxia OMIM:278800 ERCC6 2074 HP:0000613 Photophobia OMIM:278800 ERCC6 2074 HP:0000992 Cutaneous photosensitivity OMIM:278800 ERCC6 2074 HP:0001257 Spasticity OMIM:278800 ERCC6 2074 HP:0001249 Intellectual disability OMIM:278800 ERCC6 2074 HP:0000407 Sensorineural hearing impairment OMIM:278800 ERCC6 2074 HP:0001284 Areflexia OMIM:278800 ERCC6 2074 HP:0000491 Keratitis OMIM:278800 ERCC6 2074 HP:0001266 Choreoathetosis OMIM:278800 ERCC6 2074 HP:0002542 Olivopontocerebellar atrophy OMIM:278800 ERCC6 2074 HP:0003510 Severe short stature OMIM:278800 ERCC6 2074 HP:0000007 Autosomal recessive inheritance OMIM:278800 ERCC6 2074 HP:0000621 Entropion OMIM:278800 ERCC6 2074 HP:0001009 Telangiectasia OMIM:278800 ERCC6 2074 HP:0001272 Cerebellar atrophy OMIM:278800 ERCC6 2074 HP:0001265 Hyporeflexia OMIM:278800 ERCC6 2074 HP:0000252 Microcephaly OMIM:278800 ERCC6 2074 HP:0004334 Dermal atrophy OMIM:278800 ERCC6 2074 HP:0000509 Conjunctivitis OMIM:278800 ERCC6 2074 HP:0001029 Poikiloderma OMIM:278800 ERCC6 2074 HP:0001268 Mental deterioration OMIM:278800 ERCC6 2074 HP:0000656 Ectropion OMIM:278800 ERCC6 2074 HP:0003079 Defective DNA repair after ultraviolet radiation damage OMIM:607876 ADRA2B 151 HP:0001340 Enhancement of the C-reflex OMIM:607876 ADRA2B 151 HP:0001249 Intellectual disability OMIM:607876 ADRA2B 151 HP:0002069 Generalized tonic-clonic seizures OMIM:607876 ADRA2B 151 HP:0003680 Nonprogressive disorder OMIM:607876 ADRA2B 151 HP:0001337 Tremor OMIM:607876 ADRA2B 151 HP:0001312 Giant somatosensory evoked potentials OMIM:607876 ADRA2B 151 HP:0000006 Autosomal dominant inheritance OMIM:607876 ADRA2B 151 HP:0001336 Myoclonus OMIM:607876 ADRA2B 151 HP:0010852 EEG with photoparoxysmal response OMIM:607876 ADRA2B 151 HP:0000643 Blepharospasm OMIM:607876 ADRA2B 151 HP:0001351 Jerk-locked premyoclonus spikes OMIM:607876 ADRA2B 151 HP:0003581 Adult onset OMIM:607876 ADRA2B 151 HP:0001326 EEG with irregular generalized spike and wave complexes ORPHANET:312 KRT1 3848 HP:0000995 Melanocytic nevus ORPHANET:312 KRT1 3848 HP:0001824 Weight loss ORPHANET:312 KRT1 3848 HP:0100780 Conjunctival hamartoma ORPHANET:312 KRT1 3848 HP:0008066 Abnormal blistering of the skin ORPHANET:312 KRT1 3848 HP:0008064 Ichthyosis ORPHANET:312 KRT1 3848 HP:0000982 Palmoplantar keratoderma ORPHANET:312 KRT1 3848 HP:0200042 Skin ulcer ORPHANET:312 KRT10 3858 HP:0000995 Melanocytic nevus ORPHANET:312 KRT10 3858 HP:0001824 Weight loss ORPHANET:312 KRT10 3858 HP:0100780 Conjunctival hamartoma ORPHANET:312 KRT10 3858 HP:0008066 Abnormal blistering of the skin ORPHANET:312 KRT10 3858 HP:0008064 Ichthyosis ORPHANET:312 KRT10 3858 HP:0000982 Palmoplantar keratoderma ORPHANET:312 KRT10 3858 HP:0200042 Skin ulcer OMIM:252920 NAGLU 4669 HP:0000365 Hearing impairment OMIM:252920 NAGLU 4669 HP:0000664 Synophrys OMIM:252920 NAGLU 4669 HP:0002014 Diarrhea OMIM:252920 NAGLU 4669 HP:0000900 Thickened ribs OMIM:252920 NAGLU 4669 HP:0003309 Ovoid thoracolumbar vertebrae OMIM:252920 NAGLU 4669 HP:0002360 Sleep disturbance OMIM:252920 NAGLU 4669 HP:0000718 Aggressive behavior OMIM:252920 NAGLU 4669 HP:0002344 Progressive neurologic deterioration OMIM:252920 NAGLU 4669 HP:0002208 Coarse hair OMIM:252920 NAGLU 4669 HP:0003621 Juvenile onset OMIM:252920 NAGLU 4669 HP:0001640 Cardiomegaly OMIM:252920 NAGLU 4669 HP:0002159 Heparan sulfate excretion in urine OMIM:252920 NAGLU 4669 HP:0001387 Joint stiffness OMIM:252920 NAGLU 4669 HP:0001670 Asymmetric septal hypertrophy OMIM:252920 NAGLU 4669 HP:0000250 Dense calvaria OMIM:252920 NAGLU 4669 HP:0002240 Hepatomegaly OMIM:252920 NAGLU 4669 HP:0000007 Autosomal recessive inheritance OMIM:252920 NAGLU 4669 HP:0001007 Hirsutism OMIM:252920 NAGLU 4669 HP:0001744 Splenomegaly OMIM:252920 NAGLU 4669 HP:0001250 Seizures OMIM:252920 NAGLU 4669 HP:0000752 Hyperactivity OMIM:252920 NAGLU 4669 HP:0002788 Recurrent upper respiratory tract infections OMIM:252920 NAGLU 4669 HP:0000943 Dysostosis multiplex OMIM:252920 NAGLU 4669 HP:0001249 Intellectual disability OMIM:252920 NAGLU 4669 HP:0000280 Coarse facial features OMIM:602473 ETHE1 23474 HP:0008046 Abnormality of the retinal vasculature OMIM:602473 ETHE1 23474 HP:0003128 Lactic acidosis OMIM:602473 ETHE1 23474 HP:0002376 Developmental regression OMIM:602473 ETHE1 23474 HP:0003219 Ethylmalonic aciduria OMIM:602473 ETHE1 23474 HP:0001508 Failure to thrive OMIM:602473 ETHE1 23474 HP:0002028 Chronic diarrhea OMIM:602473 ETHE1 23474 HP:0001252 Muscular hypotonia OMIM:602473 ETHE1 23474 HP:0002071 Abnormality of extrapyramidal motor function OMIM:602473 ETHE1 23474 HP:0001251 Ataxia OMIM:602473 ETHE1 23474 HP:0003688 Decreased activity of cytochrome C oxidase in muscle tissue OMIM:602473 ETHE1 23474 HP:0001263 Global developmental delay OMIM:602473 ETHE1 23474 HP:0001298 Encephalopathy OMIM:602473 ETHE1 23474 HP:0007183 Focal T2 hyperintense basal ganglia lesion OMIM:602473 ETHE1 23474 HP:0000007 Autosomal recessive inheritance OMIM:602473 ETHE1 23474 HP:0000967 Petechiae OMIM:602473 ETHE1 23474 HP:0001249 Intellectual disability OMIM:602473 ETHE1 23474 HP:0001250 Seizures OMIM:616006 FAT4 79633 HP:0000316 Hypertelorism OMIM:616006 FAT4 79633 HP:0000365 Hearing impairment OMIM:616006 FAT4 79633 HP:0002593 Intestinal lymphangiectasia OMIM:616006 FAT4 79633 HP:0012368 Flat face OMIM:616006 FAT4 79633 HP:0040079 Irregular dentition OMIM:616006 FAT4 79633 HP:0006521 Pulmonary lymphangiectasia OMIM:616006 FAT4 79633 HP:0001004 Lymphedema OMIM:616006 FAT4 79633 HP:0008551 Microtia OMIM:616006 FAT4 79633 HP:0000286 Epicanthus OMIM:616006 FAT4 79633 HP:0005280 Depressed nasal bridge OMIM:616006 FAT4 79633 HP:0012385 Camptodactyly OMIM:616006 FAT4 79633 HP:0005183 Pericardial lymphangiectasia OMIM:616006 FAT4 79633 HP:0000581 Blepharophimosis OMIM:616006 FAT4 79633 HP:0001510 Growth delay OMIM:616006 FAT4 79633 HP:0000160 Narrow mouth OMIM:604117 LOR 4014 HP:0001276 Hypertonia OMIM:604117 LOR 4014 HP:0001036 Parakeratosis OMIM:604117 LOR 4014 HP:0000982 Palmoplantar keratoderma OMIM:604117 LOR 4014 HP:0000962 Hyperkeratosis OMIM:604117 LOR 4014 HP:0001597 Abnormality of the nail OMIM:604117 LOR 4014 HP:0100716 Self-injurious behavior OMIM:604117 LOR 4014 HP:0008064 Ichthyosis OMIM:604117 LOR 4014 HP:0040162 Orthokeratosis OMIM:140700 HBA1 3039 HP:0005511 Heinz body anemia OMIM:140700 HBA1 3039 HP:0000006 Autosomal dominant inheritance OMIM:140700 HBA1 3039 HP:0001930 Nonspherocytic hemolytic anemia OMIM:140700 HBA1 3039 HP:0001939 Abnormality of metabolism/homeostasis OMIM:140700 HBA2 3040 HP:0005511 Heinz body anemia OMIM:140700 HBA2 3040 HP:0000006 Autosomal dominant inheritance OMIM:140700 HBA2 3040 HP:0001930 Nonspherocytic hemolytic anemia OMIM:140700 HBA2 3040 HP:0001939 Abnormality of metabolism/homeostasis OMIM:140700 HBB 3043 HP:0005511 Heinz body anemia OMIM:140700 HBB 3043 HP:0000006 Autosomal dominant inheritance OMIM:140700 HBB 3043 HP:0001930 Nonspherocytic hemolytic anemia OMIM:140700 HBB 3043 HP:0001939 Abnormality of metabolism/homeostasis OMIM:300067 DCX 1641 HP:0100543 Cognitive impairment OMIM:300067 DCX 1641 HP:0001260 Dysarthria OMIM:300067 DCX 1641 HP:0008897 Postnatal growth retardation OMIM:300067 DCX 1641 HP:0001417 X-linked inheritance OMIM:300067 DCX 1641 HP:0003593 Infantile onset OMIM:300067 DCX 1641 HP:0000054 Micropenis OMIM:300067 DCX 1641 HP:0008936 Muscular hypotonia of the trunk OMIM:300067 DCX 1641 HP:0001250 Seizures OMIM:300067 DCX 1641 HP:0001251 Ataxia OMIM:300067 DCX 1641 HP:0001276 Hypertonia OMIM:300067 DCX 1641 HP:0001302 Pachygyria OMIM:300067 DCX 1641 HP:0001274 Agenesis of corpus callosum OMIM:300067 DCX 1641 HP:0003829 Incomplete penetrance OMIM:300067 DCX 1641 HP:0001339 Lissencephaly OMIM:300067 DCX 1641 HP:0001249 Intellectual disability OMIM:300067 DCX 1641 HP:0001252 Muscular hypotonia OMIM:300067 DCX 1641 HP:0001522 Death in infancy OMIM:300067 DCX 1641 HP:0000639 Nystagmus OMIM:300067 DCX 1641 HP:0001270 Motor delay OMIM:608634 HSPB1 3315 HP:0002355 Difficulty walking OMIM:608634 HSPB1 3315 HP:0009830 Peripheral neuropathy OMIM:608634 HSPB1 3315 HP:0003445 EMG: neuropathic changes OMIM:608634 HSPB1 3315 HP:0002601 Paresis of extensor muscles of the big toe OMIM:608634 HSPB1 3315 HP:0009053 Distal lower limb muscle weakness OMIM:608634 HSPB1 3315 HP:0003581 Adult onset OMIM:608634 HSPB1 3315 HP:0002600 Hyporeflexia of lower limbs OMIM:608634 HSPB1 3315 HP:0002522 Areflexia of lower limbs OMIM:608634 HSPB1 3315 HP:0003677 Slow progression OMIM:608634 HSPB1 3315 HP:0000006 Autosomal dominant inheritance OMIM:611705 TTN 7273 HP:0003198 Myopathy OMIM:611705 TTN 7273 HP:0003324 Generalized muscle weakness OMIM:611705 TTN 7273 HP:0011675 Arrhythmia OMIM:611705 TTN 7273 HP:0000508 Ptosis OMIM:611705 TTN 7273 HP:0003577 Congenital onset OMIM:611705 TTN 7273 HP:0003236 Elevated serum creatine phosphokinase OMIM:611705 TTN 7273 HP:0000007 Autosomal recessive inheritance OMIM:611705 TTN 7273 HP:0003687 Centrally nucleated skeletal muscle fibers OMIM:611705 TTN 7273 HP:0008981 Calf muscle hypertrophy OMIM:611705 TTN 7273 HP:0001644 Dilated cardiomyopathy OMIM:611705 TTN 7273 HP:0010628 Facial palsy OMIM:611705 TTN 7273 HP:0001699 Sudden death OMIM:611705 TTN 7273 HP:0003593 Infantile onset OMIM:611705 TTN 7273 HP:0001270 Motor delay OMIM:300872 TMLHE 55217 HP:0001249 Intellectual disability OMIM:300872 TMLHE 55217 HP:0001250 Seizures OMIM:300872 TMLHE 55217 HP:0000717 Autism OMIM:614945 OTOG 340990 HP:0000007 Autosomal recessive inheritance OMIM:614945 OTOG 340990 HP:0000365 Hearing impairment OMIM:614932 PNPT1 87178 HP:0001266 Choreoathetosis OMIM:614932 PNPT1 87178 HP:0000007 Autosomal recessive inheritance OMIM:614932 PNPT1 87178 HP:0006829 Severe muscular hypotonia OMIM:614932 PNPT1 87178 HP:0100660 Dyskinesia OMIM:614932 PNPT1 87178 HP:0003202 Skeletal muscle atrophy OMIM:614932 PNPT1 87178 HP:0001332 Dystonia OMIM:614932 PNPT1 87178 HP:0001344 Absent speech OMIM:614932 PNPT1 87178 HP:0001265 Hyporeflexia OMIM:614932 PNPT1 87178 HP:0001510 Growth delay OMIM:609242 NAGA 4668 HP:0100543 Cognitive impairment OMIM:609242 NAGA 4668 HP:0000007 Autosomal recessive inheritance OMIM:609242 NAGA 4668 HP:0100585 Teleangiectasia of the skin OMIM:609242 NAGA 4668 HP:0000962 Hyperkeratosis OMIM:609242 NAGA 4668 HP:0000360 Tinnitus OMIM:609242 NAGA 4668 HP:0005280 Depressed nasal bridge OMIM:609242 NAGA 4668 HP:0003477 Peripheral axonal neuropathy OMIM:609242 NAGA 4668 HP:0003355 Aminoaciduria OMIM:609242 NAGA 4668 HP:0001640 Cardiomegaly OMIM:609242 NAGA 4668 HP:0003461 Increased urinary O-linked sialopeptides OMIM:609242 NAGA 4668 HP:0000365 Hearing impairment OMIM:609242 NAGA 4668 HP:0000214 Lip telangiectasia OMIM:609242 NAGA 4668 HP:0000280 Coarse facial features OMIM:609242 NAGA 4668 HP:0001256 Intellectual disability, mild OMIM:609242 NAGA 4668 HP:0001004 Lymphedema OMIM:609242 NAGA 4668 HP:0000958 Dry skin OMIM:609242 NAGA 4668 HP:0002936 Distal sensory impairment OMIM:609242 NAGA 4668 HP:0002321 Vertigo OMIM:609242 NAGA 4668 HP:0002460 Distal muscle weakness OMIM:609242 NAGA 4668 HP:0007759 Opacification of the corneal stroma OMIM:609242 NAGA 4668 HP:0001071 Angiokeratoma corporis diffusum OMIM:609242 NAGA 4668 HP:0006812 White mater abnormalities in the posterior periventricular region OMIM:609242 NAGA 4668 HP:0000179 Thick lower lip vermilion OMIM:609242 NAGA 4668 HP:0040078 Axonal degeneration OMIM:609242 NAGA 4668 HP:0000407 Sensorineural hearing impairment OMIM:609242 NAGA 4668 HP:0003409 Distal sensory impairment of all modalities OMIM:609242 NAGA 4668 HP:0007428 Telangiectasia of the oral mucosa OMIM:609242 NAGA 4668 HP:0000478 Abnormality of the eye OMIM:609242 NAGA 4668 HP:0003581 Adult onset OMIM:609242 NAGA 4668 HP:0002059 Cerebral atrophy OMIM:615918 TARS2 80222 HP:0002079 Hypoplasia of the corpus callosum OMIM:615918 TARS2 80222 HP:0001397 Hepatic steatosis OMIM:615918 TARS2 80222 HP:0001263 Global developmental delay OMIM:615918 TARS2 80222 HP:0008936 Muscular hypotonia of the trunk OMIM:615918 TARS2 80222 HP:0002509 Limb hypertonia OMIM:615918 TARS2 80222 HP:0002151 Increased serum lactate OMIM:613886 NTRK2 4915 HP:0001513 Obesity OMIM:613886 NTRK2 4915 HP:0011344 Severe global developmental delay OMIM:613886 NTRK2 4915 HP:0000006 Autosomal dominant inheritance OMIM:613886 NTRK2 4915 HP:0002591 Polyphagia OMIM:614255 KIF1A 547 HP:0006855 Cerebellar vermis atrophy OMIM:614255 KIF1A 547 HP:0000006 Autosomal dominant inheritance OMIM:614255 KIF1A 547 HP:0001249 Intellectual disability OMIM:614255 KIF1A 547 HP:0001257 Spasticity OMIM:614255 KIF1A 547 HP:0008936 Muscular hypotonia of the trunk OMIM:243700 DOCK8 81704 HP:0003593 Infantile onset OMIM:243700 DOCK8 81704 HP:0002841 Recurrent fungal infections OMIM:243700 DOCK8 81704 HP:0001880 Eosinophilia OMIM:243700 DOCK8 81704 HP:0002099 Asthma OMIM:243700 DOCK8 81704 HP:0200042 Skin ulcer OMIM:243700 DOCK8 81704 HP:0005374 Cellular immunodeficiency OMIM:243700 DOCK8 81704 HP:0001047 Atopic dermatitis OMIM:243700 DOCK8 81704 HP:0005425 Recurrent sinopulmonary infections OMIM:243700 DOCK8 81704 HP:0002301 Hemiplegia OMIM:243700 DOCK8 81704 HP:0000964 Eczema OMIM:243700 DOCK8 81704 HP:0200043 Verrucae OMIM:243700 DOCK8 81704 HP:0004429 Recurrent viral infections OMIM:243700 DOCK8 81704 HP:0002138 Subarachnoid hemorrhage OMIM:243700 DOCK8 81704 HP:0005318 Cerebral vasculitis OMIM:243700 DOCK8 81704 HP:0000007 Autosomal recessive inheritance OMIM:243700 DOCK8 81704 HP:0002718 Recurrent bacterial infections OMIM:243700 DOCK8 81704 HP:0000246 Sinusitis OMIM:243700 DOCK8 81704 HP:0004313 Hypogammaglobulinemia OMIM:243700 DOCK8 81704 HP:0000388 Otitis media OMIM:243700 DOCK8 81704 HP:0002664 Neoplasm OMIM:608354 RASA1 5921 HP:0000006 Autosomal dominant inheritance OMIM:608354 RASA1 5921 HP:0100026 Arteriovenous malformation OMIM:608354 RASA1 5921 HP:0005306 Capillary hemangiomas ORPHANET:808 RBBP8 5932 HP:0004322 Short stature ORPHANET:808 RBBP8 5932 HP:0001382 Joint hypermobility ORPHANET:808 RBBP8 5932 HP:0010579 Cone-shaped epiphysis ORPHANET:808 RBBP8 5932 HP:0011362 Abnormal hair quantity ORPHANET:808 RBBP8 5932 HP:0000682 Abnormality of dental enamel ORPHANET:808 RBBP8 5932 HP:0000501 Glaucoma ORPHANET:808 RBBP8 5932 HP:0001511 Intrauterine growth retardation ORPHANET:808 RBBP8 5932 HP:0002650 Scoliosis ORPHANET:808 RBBP8 5932 HP:0000275 Narrow face ORPHANET:808 RBBP8 5932 HP:0001852 Sandal gap ORPHANET:808 RBBP8 5932 HP:0009804 Reduced number of teeth ORPHANET:808 RBBP8 5932 HP:0004348 Abnormality of bone mineral density ORPHANET:808 RBBP8 5932 HP:0007495 Prematurely aged appearance ORPHANET:808 RBBP8 5932 HP:0000494 Downslanted palpebral fissures ORPHANET:808 RBBP8 5932 HP:0004325 Decreased body weight ORPHANET:808 RBBP8 5932 HP:0000347 Micrognathia ORPHANET:808 RBBP8 5932 HP:0000444 Convex nasal ridge ORPHANET:808 RBBP8 5932 HP:0004209 Clinodactyly of the 5th finger ORPHANET:808 RBBP8 5932 HP:0000252 Microcephaly ORPHANET:808 RBBP8 5932 HP:0100543 Cognitive impairment ORPHANET:808 RBBP8 5932 HP:0009906 Aplasia/Hypoplasia of the earlobes ORPHANET:808 RBBP8 5932 HP:0001363 Craniosynostosis ORPHANET:808 RBBP8 5932 HP:0003272 Abnormality of the hip bone ORPHANET:808 PLK4 10733 HP:0004322 Short stature ORPHANET:808 PLK4 10733 HP:0001382 Joint hypermobility ORPHANET:808 PLK4 10733 HP:0010579 Cone-shaped epiphysis ORPHANET:808 PLK4 10733 HP:0011362 Abnormal hair quantity ORPHANET:808 PLK4 10733 HP:0000682 Abnormality of dental enamel ORPHANET:808 PLK4 10733 HP:0000501 Glaucoma ORPHANET:808 PLK4 10733 HP:0001511 Intrauterine growth retardation ORPHANET:808 PLK4 10733 HP:0002650 Scoliosis ORPHANET:808 PLK4 10733 HP:0000275 Narrow face ORPHANET:808 PLK4 10733 HP:0001852 Sandal gap ORPHANET:808 PLK4 10733 HP:0009804 Reduced number of teeth ORPHANET:808 PLK4 10733 HP:0004348 Abnormality of bone mineral density ORPHANET:808 PLK4 10733 HP:0007495 Prematurely aged appearance ORPHANET:808 PLK4 10733 HP:0000494 Downslanted palpebral fissures ORPHANET:808 PLK4 10733 HP:0004325 Decreased body weight ORPHANET:808 PLK4 10733 HP:0000347 Micrognathia ORPHANET:808 PLK4 10733 HP:0000444 Convex nasal ridge ORPHANET:808 PLK4 10733 HP:0004209 Clinodactyly of the 5th finger ORPHANET:808 PLK4 10733 HP:0000252 Microcephaly ORPHANET:808 PLK4 10733 HP:0100543 Cognitive impairment ORPHANET:808 PLK4 10733 HP:0009906 Aplasia/Hypoplasia of the earlobes ORPHANET:808 PLK4 10733 HP:0001363 Craniosynostosis ORPHANET:808 PLK4 10733 HP:0003272 Abnormality of the hip bone ORPHANET:808 ATRIP 84126 HP:0004322 Short stature ORPHANET:808 ATRIP 84126 HP:0001382 Joint hypermobility ORPHANET:808 ATRIP 84126 HP:0010579 Cone-shaped epiphysis ORPHANET:808 ATRIP 84126 HP:0011362 Abnormal hair quantity ORPHANET:808 ATRIP 84126 HP:0000682 Abnormality of dental enamel ORPHANET:808 ATRIP 84126 HP:0000501 Glaucoma ORPHANET:808 ATRIP 84126 HP:0001511 Intrauterine growth retardation ORPHANET:808 ATRIP 84126 HP:0002650 Scoliosis ORPHANET:808 ATRIP 84126 HP:0000275 Narrow face ORPHANET:808 ATRIP 84126 HP:0001852 Sandal gap ORPHANET:808 ATRIP 84126 HP:0009804 Reduced number of teeth ORPHANET:808 ATRIP 84126 HP:0004348 Abnormality of bone mineral density ORPHANET:808 ATRIP 84126 HP:0007495 Prematurely aged appearance ORPHANET:808 ATRIP 84126 HP:0000494 Downslanted palpebral fissures ORPHANET:808 ATRIP 84126 HP:0004325 Decreased body weight ORPHANET:808 ATRIP 84126 HP:0000347 Micrognathia ORPHANET:808 ATRIP 84126 HP:0000444 Convex nasal ridge ORPHANET:808 ATRIP 84126 HP:0004209 Clinodactyly of the 5th finger ORPHANET:808 ATRIP 84126 HP:0000252 Microcephaly ORPHANET:808 ATRIP 84126 HP:0100543 Cognitive impairment ORPHANET:808 ATRIP 84126 HP:0009906 Aplasia/Hypoplasia of the earlobes ORPHANET:808 ATRIP 84126 HP:0001363 Craniosynostosis ORPHANET:808 ATRIP 84126 HP:0003272 Abnormality of the hip bone ORPHANET:808 CENPJ 55835 HP:0004322 Short stature ORPHANET:808 CENPJ 55835 HP:0001382 Joint hypermobility ORPHANET:808 CENPJ 55835 HP:0010579 Cone-shaped epiphysis ORPHANET:808 CENPJ 55835 HP:0011362 Abnormal hair quantity ORPHANET:808 CENPJ 55835 HP:0000682 Abnormality of dental enamel ORPHANET:808 CENPJ 55835 HP:0000501 Glaucoma ORPHANET:808 CENPJ 55835 HP:0001511 Intrauterine growth retardation ORPHANET:808 CENPJ 55835 HP:0002650 Scoliosis ORPHANET:808 CENPJ 55835 HP:0000275 Narrow face ORPHANET:808 CENPJ 55835 HP:0001852 Sandal gap ORPHANET:808 CENPJ 55835 HP:0009804 Reduced number of teeth ORPHANET:808 CENPJ 55835 HP:0004348 Abnormality of bone mineral density ORPHANET:808 CENPJ 55835 HP:0007495 Prematurely aged appearance ORPHANET:808 CENPJ 55835 HP:0000494 Downslanted palpebral fissures ORPHANET:808 CENPJ 55835 HP:0004325 Decreased body weight ORPHANET:808 CENPJ 55835 HP:0000347 Micrognathia ORPHANET:808 CENPJ 55835 HP:0000444 Convex nasal ridge ORPHANET:808 CENPJ 55835 HP:0004209 Clinodactyly of the 5th finger ORPHANET:808 CENPJ 55835 HP:0000252 Microcephaly ORPHANET:808 CENPJ 55835 HP:0100543 Cognitive impairment ORPHANET:808 CENPJ 55835 HP:0009906 Aplasia/Hypoplasia of the earlobes ORPHANET:808 CENPJ 55835 HP:0001363 Craniosynostosis ORPHANET:808 CENPJ 55835 HP:0003272 Abnormality of the hip bone ORPHANET:808 PCNT 5116 HP:0004322 Short stature ORPHANET:808 PCNT 5116 HP:0001382 Joint hypermobility ORPHANET:808 PCNT 5116 HP:0010579 Cone-shaped epiphysis ORPHANET:808 PCNT 5116 HP:0011362 Abnormal hair quantity ORPHANET:808 PCNT 5116 HP:0000682 Abnormality of dental enamel ORPHANET:808 PCNT 5116 HP:0000501 Glaucoma ORPHANET:808 PCNT 5116 HP:0001511 Intrauterine growth retardation ORPHANET:808 PCNT 5116 HP:0002650 Scoliosis ORPHANET:808 PCNT 5116 HP:0000275 Narrow face ORPHANET:808 PCNT 5116 HP:0001852 Sandal gap ORPHANET:808 PCNT 5116 HP:0009804 Reduced number of teeth ORPHANET:808 PCNT 5116 HP:0004348 Abnormality of bone mineral density ORPHANET:808 PCNT 5116 HP:0007495 Prematurely aged appearance ORPHANET:808 PCNT 5116 HP:0000494 Downslanted palpebral fissures ORPHANET:808 PCNT 5116 HP:0004325 Decreased body weight ORPHANET:808 PCNT 5116 HP:0000347 Micrognathia ORPHANET:808 PCNT 5116 HP:0000444 Convex nasal ridge ORPHANET:808 PCNT 5116 HP:0004209 Clinodactyly of the 5th finger ORPHANET:808 PCNT 5116 HP:0000252 Microcephaly ORPHANET:808 PCNT 5116 HP:0100543 Cognitive impairment ORPHANET:808 PCNT 5116 HP:0009906 Aplasia/Hypoplasia of the earlobes ORPHANET:808 PCNT 5116 HP:0001363 Craniosynostosis ORPHANET:808 PCNT 5116 HP:0003272 Abnormality of the hip bone ORPHANET:808 ATR 545 HP:0004322 Short stature ORPHANET:808 ATR 545 HP:0001382 Joint hypermobility ORPHANET:808 ATR 545 HP:0010579 Cone-shaped epiphysis ORPHANET:808 ATR 545 HP:0011362 Abnormal hair quantity ORPHANET:808 ATR 545 HP:0000682 Abnormality of dental enamel ORPHANET:808 ATR 545 HP:0000501 Glaucoma ORPHANET:808 ATR 545 HP:0001511 Intrauterine growth retardation ORPHANET:808 ATR 545 HP:0002650 Scoliosis ORPHANET:808 ATR 545 HP:0000275 Narrow face ORPHANET:808 ATR 545 HP:0001852 Sandal gap ORPHANET:808 ATR 545 HP:0009804 Reduced number of teeth ORPHANET:808 ATR 545 HP:0004348 Abnormality of bone mineral density ORPHANET:808 ATR 545 HP:0007495 Prematurely aged appearance ORPHANET:808 ATR 545 HP:0000494 Downslanted palpebral fissures ORPHANET:808 ATR 545 HP:0004325 Decreased body weight ORPHANET:808 ATR 545 HP:0000347 Micrognathia ORPHANET:808 ATR 545 HP:0000444 Convex nasal ridge ORPHANET:808 ATR 545 HP:0004209 Clinodactyly of the 5th finger ORPHANET:808 ATR 545 HP:0000252 Microcephaly ORPHANET:808 ATR 545 HP:0100543 Cognitive impairment ORPHANET:808 ATR 545 HP:0009906 Aplasia/Hypoplasia of the earlobes ORPHANET:808 ATR 545 HP:0001363 Craniosynostosis ORPHANET:808 ATR 545 HP:0003272 Abnormality of the hip bone ORPHANET:808 CEP152 22995 HP:0004322 Short stature ORPHANET:808 CEP152 22995 HP:0001382 Joint hypermobility ORPHANET:808 CEP152 22995 HP:0010579 Cone-shaped epiphysis ORPHANET:808 CEP152 22995 HP:0011362 Abnormal hair quantity ORPHANET:808 CEP152 22995 HP:0000682 Abnormality of dental enamel ORPHANET:808 CEP152 22995 HP:0000501 Glaucoma ORPHANET:808 CEP152 22995 HP:0001511 Intrauterine growth retardation ORPHANET:808 CEP152 22995 HP:0002650 Scoliosis ORPHANET:808 CEP152 22995 HP:0000275 Narrow face ORPHANET:808 CEP152 22995 HP:0001852 Sandal gap ORPHANET:808 CEP152 22995 HP:0009804 Reduced number of teeth ORPHANET:808 CEP152 22995 HP:0004348 Abnormality of bone mineral density ORPHANET:808 CEP152 22995 HP:0007495 Prematurely aged appearance ORPHANET:808 CEP152 22995 HP:0000494 Downslanted palpebral fissures ORPHANET:808 CEP152 22995 HP:0004325 Decreased body weight ORPHANET:808 CEP152 22995 HP:0000347 Micrognathia ORPHANET:808 CEP152 22995 HP:0000444 Convex nasal ridge ORPHANET:808 CEP152 22995 HP:0004209 Clinodactyly of the 5th finger ORPHANET:808 CEP152 22995 HP:0000252 Microcephaly ORPHANET:808 CEP152 22995 HP:0100543 Cognitive impairment ORPHANET:808 CEP152 22995 HP:0009906 Aplasia/Hypoplasia of the earlobes ORPHANET:808 CEP152 22995 HP:0001363 Craniosynostosis ORPHANET:808 CEP152 22995 HP:0003272 Abnormality of the hip bone ORPHANET:808 CENPE 1062 HP:0004322 Short stature ORPHANET:808 CENPE 1062 HP:0001382 Joint hypermobility ORPHANET:808 CENPE 1062 HP:0010579 Cone-shaped epiphysis ORPHANET:808 CENPE 1062 HP:0011362 Abnormal hair quantity ORPHANET:808 CENPE 1062 HP:0000682 Abnormality of dental enamel ORPHANET:808 CENPE 1062 HP:0000501 Glaucoma ORPHANET:808 CENPE 1062 HP:0001511 Intrauterine growth retardation ORPHANET:808 CENPE 1062 HP:0002650 Scoliosis ORPHANET:808 CENPE 1062 HP:0000275 Narrow face ORPHANET:808 CENPE 1062 HP:0001852 Sandal gap ORPHANET:808 CENPE 1062 HP:0009804 Reduced number of teeth ORPHANET:808 CENPE 1062 HP:0004348 Abnormality of bone mineral density ORPHANET:808 CENPE 1062 HP:0007495 Prematurely aged appearance ORPHANET:808 CENPE 1062 HP:0000494 Downslanted palpebral fissures ORPHANET:808 CENPE 1062 HP:0004325 Decreased body weight ORPHANET:808 CENPE 1062 HP:0000347 Micrognathia ORPHANET:808 CENPE 1062 HP:0000444 Convex nasal ridge ORPHANET:808 CENPE 1062 HP:0004209 Clinodactyly of the 5th finger ORPHANET:808 CENPE 1062 HP:0000252 Microcephaly ORPHANET:808 CENPE 1062 HP:0100543 Cognitive impairment ORPHANET:808 CENPE 1062 HP:0009906 Aplasia/Hypoplasia of the earlobes ORPHANET:808 CENPE 1062 HP:0001363 Craniosynostosis ORPHANET:808 CENPE 1062 HP:0003272 Abnormality of the hip bone OMIM:613225 F13A1 2162 HP:0005261 Joint hemorrhage OMIM:613225 F13A1 2162 HP:0003577 Congenital onset OMIM:613225 F13A1 2162 HP:0000007 Autosomal recessive inheritance OMIM:613225 F13A1 2162 HP:0007420 Spontaneous hematomas OMIM:613225 F13A1 2162 HP:0000421 Epistaxis OMIM:613225 F13A1 2162 HP:0000978 Bruising susceptibility OMIM:613225 F13A1 2162 HP:0002170 Intracranial hemorrhage OMIM:613225 F13A1 2162 HP:0008357 Reduced factor XIII activity OMIM:615895 RBCK1 10616 HP:0002716 Lymphadenopathy OMIM:615895 RBCK1 10616 HP:0001508 Failure to thrive OMIM:615895 RBCK1 10616 HP:0003701 Proximal muscle weakness OMIM:615895 RBCK1 10616 HP:0001644 Dilated cardiomyopathy OMIM:615895 RBCK1 10616 HP:0002240 Hepatomegaly OMIM:615895 RBCK1 10616 HP:0002910 Elevated hepatic transaminases OMIM:615895 RBCK1 10616 HP:0000964 Eczema OMIM:615895 RBCK1 10616 HP:0003236 Elevated serum creatine phosphokinase OMIM:615895 RBCK1 10616 HP:0000508 Ptosis OMIM:615895 RBCK1 10616 HP:0002650 Scoliosis OMIM:615895 RBCK1 10616 HP:0002721 Immunodeficiency OMIM:615895 RBCK1 10616 HP:0002719 Recurrent infections OMIM:615895 RBCK1 10616 HP:0003326 Myalgia OMIM:615895 RBCK1 10616 HP:0001510 Growth delay OMIM:608747 IGF1 3479 HP:0004325 Decreased body weight OMIM:608747 IGF1 3479 HP:0002750 Delayed skeletal maturation OMIM:608747 IGF1 3479 HP:0003577 Congenital onset OMIM:608747 IGF1 3479 HP:0000938 Osteopenia OMIM:608747 IGF1 3479 HP:0001939 Abnormality of metabolism/homeostasis OMIM:608747 IGF1 3479 HP:0000007 Autosomal recessive inheritance OMIM:608747 IGF1 3479 HP:0001270 Motor delay OMIM:608747 IGF1 3479 HP:0030084 Clinodactyly OMIM:608747 IGF1 3479 HP:0000407 Sensorineural hearing impairment OMIM:608747 IGF1 3479 HP:0000347 Micrognathia OMIM:608747 IGF1 3479 HP:0000252 Microcephaly OMIM:608747 IGF1 3479 HP:0000508 Ptosis OMIM:608747 IGF1 3479 HP:0000736 Short attention span OMIM:608747 IGF1 3479 HP:0001511 Intrauterine growth retardation OMIM:608747 IGF1 3479 HP:0000752 Hyperactivity OMIM:608747 IGF1 3479 HP:0001249 Intellectual disability OMIM:608747 IGF1 3479 HP:0004322 Short stature OMIM:608747 IGF1 3479 HP:0009466 Radial deviation of finger OMIM:609942 KRAS 3845 HP:0001263 Global developmental delay OMIM:609942 KRAS 3845 HP:0002007 Frontal bossing OMIM:609942 KRAS 3845 HP:0011995 Atrial septal aneurysm OMIM:609942 KRAS 3845 HP:0000463 Anteverted nares OMIM:609942 KRAS 3845 HP:0001642 Pulmonic stenosis OMIM:609942 KRAS 3845 HP:0004322 Short stature OMIM:609942 KRAS 3845 HP:0000465 Webbed neck OMIM:609942 KRAS 3845 HP:0004442 Sagittal craniosynostosis OMIM:609942 KRAS 3845 HP:0001629 Ventricular septal defect OMIM:609942 KRAS 3845 HP:0012209 Juvenile myelomonocytic leukemia OMIM:609942 KRAS 3845 HP:0000006 Autosomal dominant inheritance OMIM:609942 KRAS 3845 HP:0003196 Short nose OMIM:609942 KRAS 3845 HP:0000369 Low-set ears OMIM:609942 KRAS 3845 HP:0000316 Hypertelorism OMIM:613488 DDIT3 1649 HP:0002242 Abnormality of the intestine OMIM:613488 DDIT3 1649 HP:0100242 Sarcoma OMIM:613488 DDIT3 1649 HP:0000951 Abnormality of the skin OMIM:613488 DDIT3 1649 HP:0000079 Abnormality of the urinary system OMIM:613488 DDIT3 1649 HP:0012268 Myxoid liposarcoma OMIM:613488 DDIT3 1649 HP:0001428 Somatic mutation OMIM:613488 DDIT3 1649 HP:0100526 Neoplasm of the lung OMIM:613488 DDIT3 1649 HP:0002027 Abdominal pain OMIM:245348 DLAT 1737 HP:0002268 Paroxysmal dystonia OMIM:245348 DLAT 1737 HP:0003593 Infantile onset OMIM:245348 DLAT 1737 HP:0002465 Poor speech OMIM:245348 DLAT 1737 HP:0000508 Ptosis OMIM:245348 DLAT 1737 HP:0001319 Neonatal hypotonia OMIM:245348 DLAT 1737 HP:0001251 Ataxia OMIM:245348 DLAT 1737 HP:0000639 Nystagmus OMIM:245348 DLAT 1737 HP:0001347 Hyperreflexia OMIM:245348 DLAT 1737 HP:0001266 Choreoathetosis OMIM:245348 DLAT 1737 HP:0002307 Drooling OMIM:245348 DLAT 1737 HP:0000657 Oculomotor apraxia OMIM:245348 DLAT 1737 HP:0000007 Autosomal recessive inheritance OMIM:245348 DLAT 1737 HP:0001263 Global developmental delay OMIM:245348 DLAT 1737 HP:0006961 Jerky head movements OMIM:245348 DLAT 1737 HP:0003128 Lactic acidosis OMIM:245348 DLAT 1737 HP:0001256 Intellectual disability, mild OMIM:245348 DLAT 1737 HP:0002194 Delayed gross motor development OMIM:245348 DLAT 1737 HP:0000252 Microcephaly OMIM:613216 TRPM1 4308 HP:0000964 Eczema OMIM:613216 TRPM1 4308 HP:0000512 Abnormal electroretinogram OMIM:613216 TRPM1 4308 HP:0000639 Nystagmus OMIM:613216 TRPM1 4308 HP:0000545 Myopia OMIM:613216 TRPM1 4308 HP:0007663 Decreased central vision OMIM:613216 TRPM1 4308 HP:0007642 Congenital stationary night blindness OMIM:613216 TRPM1 4308 HP:0000958 Dry skin OMIM:615996 IFT27 11020 HP:0010442 Polydactyly OMIM:615996 IFT27 11020 HP:0001513 Obesity OMIM:615996 IFT27 11020 HP:0000510 Retinitis pigmentosa OMIM:615996 IFT27 11020 HP:0000135 Hypogonadism OMIM:615996 IFT27 11020 HP:0000083 Renal insufficiency OMIM:615996 IFT27 11020 HP:0004409 Hyposmia OMIM:615996 IFT27 11020 HP:0003241 External genital hypoplasia OMIM:615996 IFT27 11020 HP:0001249 Intellectual disability OMIM:609227 MLPH 79083 HP:0007513 Generalized hypopigmentation OMIM:609227 MLPH 79083 HP:0001107 Ocular albinism OMIM:609227 MLPH 79083 HP:0002218 Silver-gray hair OMIM:609227 MLPH 79083 HP:0001425 Heterogeneous OMIM:609227 MLPH 79083 HP:0004527 Large clumps of pigment irregularly distributed along hair shaft OMIM:609227 MLPH 79083 HP:0000007 Autosomal recessive inheritance OMIM:609227 MLPH 79083 HP:0002227 White eyelashes OMIM:614286 SF3B1 23451 HP:0002863 Myelodysplasia OMIM:614286 SF3B1 23451 HP:0001428 Somatic mutation OMIM:614286 TET2 54790 HP:0002863 Myelodysplasia OMIM:614286 TET2 54790 HP:0001428 Somatic mutation OMIM:614286 ASXL1 171023 HP:0002863 Myelodysplasia OMIM:614286 ASXL1 171023 HP:0001428 Somatic mutation OMIM:612989 TMEM126A 84233 HP:0000603 Central scotoma OMIM:612989 TMEM126A 84233 HP:0000505 Visual impairment OMIM:612989 TMEM126A 84233 HP:0001133 Constricted visual fields OMIM:612989 TMEM126A 84233 HP:0000543 Optic disc pallor OMIM:612989 TMEM126A 84233 HP:0000486 Strabismus OMIM:612989 TMEM126A 84233 HP:0000648 Optic atrophy OMIM:612989 TMEM126A 84233 HP:0001639 Hypertrophic cardiomyopathy OMIM:612989 TMEM126A 84233 HP:0000007 Autosomal recessive inheritance OMIM:612989 TMEM126A 84233 HP:0007641 Dyschromatopsia OMIM:612989 TMEM126A 84233 HP:0000666 Horizontal nystagmus OMIM:124000 BCS1L 617 HP:0001263 Global developmental delay OMIM:124000 BCS1L 617 HP:0003256 Abnormality of the coagulation cascade OMIM:124000 BCS1L 617 HP:0003201 Rhabdomyolysis OMIM:124000 BCS1L 617 HP:0006558 Decreased mitochondrial complex III activity in liver tissue OMIM:124000 BCS1L 617 HP:0000518 Cataract OMIM:124000 BCS1L 617 HP:0000510 Retinitis pigmentosa OMIM:124000 BCS1L 617 HP:0001251 Ataxia OMIM:124000 BCS1L 617 HP:0001639 Hypertrophic cardiomyopathy OMIM:124000 BCS1L 617 HP:0002151 Increased serum lactate OMIM:124000 BCS1L 617 HP:0001347 Hyperreflexia OMIM:124000 BCS1L 617 HP:0000738 Hallucinations OMIM:124000 BCS1L 617 HP:0002910 Elevated hepatic transaminases OMIM:124000 BCS1L 617 HP:0001970 Tubulointerstitial nephritis OMIM:124000 BCS1L 617 HP:0001942 Metabolic acidosis OMIM:124000 BCS1L 617 HP:0003593 Infantile onset OMIM:124000 BCS1L 617 HP:0000716 Depression OMIM:124000 BCS1L 617 HP:0030151 Cholangitis OMIM:124000 BCS1L 617 HP:0001272 Cerebellar atrophy OMIM:124000 BCS1L 617 HP:0002353 EEG abnormality OMIM:124000 BCS1L 617 HP:0001257 Spasticity OMIM:124000 BCS1L 617 HP:0001249 Intellectual disability OMIM:124000 BCS1L 617 HP:0001250 Seizures OMIM:124000 BCS1L 617 HP:0000365 Hearing impairment OMIM:124000 BCS1L 617 HP:0006789 Mitochondrial encephalopathy OMIM:124000 BCS1L 617 HP:0001427 Mitochondrial inheritance OMIM:124000 BCS1L 617 HP:0008872 Feeding difficulties in infancy OMIM:124000 BCS1L 617 HP:0001508 Failure to thrive OMIM:124000 BCS1L 617 HP:0004298 Abnormality of the abdominal wall OMIM:124000 BCS1L 617 HP:0000712 Emotional lability OMIM:124000 BCS1L 617 HP:0001410 Decreased liver function OMIM:124000 BCS1L 617 HP:0003355 Aminoaciduria OMIM:124000 BCS1L 617 HP:0001396 Cholestasis OMIM:124000 BCS1L 617 HP:0001414 Microvesicular hepatic steatosis OMIM:124000 BCS1L 617 HP:0003128 Lactic acidosis OMIM:124000 BCS1L 617 HP:0001943 Hypoglycemia OMIM:124000 BCS1L 617 HP:0001252 Muscular hypotonia OMIM:124000 BCS1L 617 HP:0001324 Muscle weakness OMIM:124000 BCS1L 617 HP:0003546 Exercise intolerance OMIM:124000 BCS1L 617 HP:0003200 Ragged-red muscle fibers OMIM:124000 BCS1L 617 HP:0002299 Brittle hair OMIM:124000 BCS1L 617 HP:0002059 Cerebral atrophy OMIM:124000 BCS1L 617 HP:0000007 Autosomal recessive inheritance OMIM:203780 COL4A4 1286 HP:0000093 Proteinuria OMIM:203780 COL4A4 1286 HP:0000822 Hypertension OMIM:203780 COL4A4 1286 HP:0000518 Cataract OMIM:203780 COL4A4 1286 HP:0000100 Nephrotic syndrome OMIM:203780 COL4A4 1286 HP:0000545 Myopia OMIM:203780 COL4A4 1286 HP:0030034 Diffuse glomerular basement membrane lamellation OMIM:203780 COL4A4 1286 HP:0000123 Nephritis OMIM:203780 COL4A4 1286 HP:0011501 Anterior lenticonus OMIM:203780 COL4A4 1286 HP:0003676 Progressive disorder OMIM:203780 COL4A4 1286 HP:0003774 Stage 5 chronic kidney disease OMIM:203780 COL4A4 1286 HP:0001425 Heterogeneous OMIM:203780 COL4A4 1286 HP:0200020 Corneal erosion OMIM:203780 COL4A4 1286 HP:0000007 Autosomal recessive inheritance OMIM:203780 COL4A4 1286 HP:0000365 Hearing impairment OMIM:203780 COL4A4 1286 HP:0000790 Hematuria OMIM:203780 COL4A3 1285 HP:0000093 Proteinuria OMIM:203780 COL4A3 1285 HP:0000822 Hypertension OMIM:203780 COL4A3 1285 HP:0000518 Cataract OMIM:203780 COL4A3 1285 HP:0000100 Nephrotic syndrome OMIM:203780 COL4A3 1285 HP:0000545 Myopia OMIM:203780 COL4A3 1285 HP:0030034 Diffuse glomerular basement membrane lamellation OMIM:203780 COL4A3 1285 HP:0000123 Nephritis OMIM:203780 COL4A3 1285 HP:0011501 Anterior lenticonus OMIM:203780 COL4A3 1285 HP:0003676 Progressive disorder OMIM:203780 COL4A3 1285 HP:0003774 Stage 5 chronic kidney disease OMIM:203780 COL4A3 1285 HP:0001425 Heterogeneous OMIM:203780 COL4A3 1285 HP:0200020 Corneal erosion OMIM:203780 COL4A3 1285 HP:0000007 Autosomal recessive inheritance OMIM:203780 COL4A3 1285 HP:0000365 Hearing impairment OMIM:203780 COL4A3 1285 HP:0000790 Hematuria OMIM:616211 WWOX 51741 HP:0200134 Epileptic encephalopathy OMIM:616211 WWOX 51741 HP:0000648 Optic atrophy OMIM:616211 WWOX 51741 HP:0001263 Global developmental delay OMIM:616211 WWOX 51741 HP:0002059 Cerebral atrophy OMIM:616211 WWOX 51741 HP:0012448 Delayed myelination OMIM:616211 WWOX 51741 HP:0008936 Muscular hypotonia of the trunk OMIM:616211 WWOX 51741 HP:0000252 Microcephaly OMIM:616211 WWOX 51741 HP:0001250 Seizures OMIM:616211 WWOX 51741 HP:0002375 Hypokinesia OMIM:616211 WWOX 51741 HP:0000546 Retinal degeneration OMIM:616211 WWOX 51741 HP:0001257 Spasticity OMIM:616211 WWOX 51741 HP:0002063 Rigidity OMIM:616211 WWOX 51741 HP:0002079 Hypoplasia of the corpus callosum OMIM:616211 WWOX 51741 HP:0000512 Abnormal electroretinogram OMIM:616211 WWOX 51741 HP:0001347 Hyperreflexia OMIM:614023 PSPH 5723 HP:0001250 Seizures OMIM:614023 PSPH 5723 HP:0001249 Intellectual disability OMIM:614023 PSPH 5723 HP:0008897 Postnatal growth retardation OMIM:614023 PSPH 5723 HP:0000007 Autosomal recessive inheritance OMIM:614023 PSPH 5723 HP:0001276 Hypertonia OMIM:614023 PSPH 5723 HP:0001511 Intrauterine growth retardation OMIM:614023 PSPH 5723 HP:0002059 Cerebral atrophy OMIM:614023 PSPH 5723 HP:0001263 Global developmental delay OMIM:614023 PSPH 5723 HP:0000252 Microcephaly ORPHANET:2636 RNU4ATAC 100151683 HP:0000520 Proptosis ORPHANET:2636 RNU4ATAC 100151683 HP:0011362 Abnormal hair quantity ORPHANET:2636 RNU4ATAC 100151683 HP:0010935 Abnormality of the upper urinary tract ORPHANET:2636 RNU4ATAC 100151683 HP:0001511 Intrauterine growth retardation ORPHANET:2636 RNU4ATAC 100151683 HP:0000268 Dolichocephaly ORPHANET:2636 RNU4ATAC 100151683 HP:0000175 Cleft palate ORPHANET:2636 RNU4ATAC 100151683 HP:0000944 Abnormality of the metaphyses ORPHANET:2636 RNU4ATAC 100151683 HP:0000179 Thick lower lip vermilion ORPHANET:2636 RNU4ATAC 100151683 HP:0000499 Abnormality of the eyelashes ORPHANET:2636 RNU4ATAC 100151683 HP:0001176 Large hands ORPHANET:2636 RNU4ATAC 100151683 HP:0001250 Seizures ORPHANET:2636 RNU4ATAC 100151683 HP:0000474 Thickened nuchal skin fold ORPHANET:2636 RNU4ATAC 100151683 HP:0010669 Cheekbone underdevelopment ORPHANET:2636 RNU4ATAC 100151683 HP:0000269 Prominent occiput ORPHANET:2636 RNU4ATAC 100151683 HP:0000470 Short neck ORPHANET:2636 RNU4ATAC 100151683 HP:0000347 Micrognathia ORPHANET:2636 RNU4ATAC 100151683 HP:0000494 Downslanted palpebral fissures ORPHANET:2636 RNU4ATAC 100151683 HP:0000889 Abnormality of the clavicle ORPHANET:2636 RNU4ATAC 100151683 HP:0000444 Convex nasal ridge ORPHANET:2636 RNU4ATAC 100151683 HP:0100569 Abnormal vertebral ossification ORPHANET:2636 RNU4ATAC 100151683 HP:0002983 Micromelia ORPHANET:2636 RNU4ATAC 100151683 HP:0004322 Short stature ORPHANET:2636 RNU4ATAC 100151683 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:2636 RNU4ATAC 100151683 HP:0000340 Sloping forehead ORPHANET:2636 RNU4ATAC 100151683 HP:0000252 Microcephaly ORPHANET:2636 RNU4ATAC 100151683 HP:0005108 Abnormality of the intervertebral disk ORPHANET:2636 RNU4ATAC 100151683 HP:0000501 Glaucoma ORPHANET:2636 RNU4ATAC 100151683 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2636 RNU4ATAC 100151683 HP:0001163 Abnormality of the metacarpal bones ORPHANET:2636 RNU4ATAC 100151683 HP:0001622 Premature birth ORPHANET:2636 RNU4ATAC 100151683 HP:0002823 Abnormality of the femur ORPHANET:2636 RNU4ATAC 100151683 HP:0002750 Delayed skeletal maturation ORPHANET:2636 RNU4ATAC 100151683 HP:0009832 Abnormality of the distal phalanx of finger ORPHANET:2636 RNU4ATAC 100151683 HP:0001156 Brachydactyly syndrome ORPHANET:2636 RNU4ATAC 100151683 HP:0009912 Abnormality of the tragus ORPHANET:2636 RNU4ATAC 100151683 HP:0001276 Hypertonia ORPHANET:2636 RNU4ATAC 100151683 HP:0005105 Abnormal nasal morphology ORPHANET:2636 RNU4ATAC 100151683 HP:0000028 Cryptorchidism ORPHANET:2636 RNU4ATAC 100151683 HP:0004349 Reduced bone mineral density ORPHANET:2636 RNU4ATAC 100151683 HP:0002093 Respiratory insufficiency ORPHANET:2636 RNU4ATAC 100151683 HP:0100543 Cognitive impairment ORPHANET:2636 RNU4ATAC 100151683 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:2636 RNU4ATAC 100151683 HP:0004209 Clinodactyly of the 5th finger ORPHANET:2636 RNU4ATAC 100151683 HP:0002644 Abnormality of pelvic girdle bone morphology ORPHANET:2636 RNU4ATAC 100151683 HP:0000954 Single transverse palmar crease ORPHANET:2636 RNU4ATAC 100151683 HP:0100530 Abnormality of calcium-phosphate metabolism OMIM:615119 COX15 1355 HP:0001558 Decreased fetal movement OMIM:615119 COX15 1355 HP:0002171 Gliosis OMIM:615119 COX15 1355 HP:0001298 Encephalopathy OMIM:615119 COX15 1355 HP:0001252 Muscular hypotonia OMIM:615119 COX15 1355 HP:0000252 Microcephaly OMIM:615119 COX15 1355 HP:0000007 Autosomal recessive inheritance OMIM:615119 COX15 1355 HP:0001397 Hepatic steatosis ORPHANET:79501 COL14A1 7373 HP:0000982 Palmoplantar keratoderma ORPHANET:79501 COL14A1 7373 HP:0001597 Abnormality of the nail ORPHANET:79501 COL14A1 7373 HP:0100273 Neoplasm of the colon ORPHANET:79501 COL14A1 7373 HP:0100013 Neoplasm of the breast ORPHANET:79501 COL14A1 7373 HP:0002665 Lymphoma ORPHANET:79501 COL14A1 7373 HP:0002894 Neoplasm of the pancreas ORPHANET:79501 COL14A1 7373 HP:0009726 Renal neoplasm ORPHANET:79501 AAGAB 79719 HP:0000982 Palmoplantar keratoderma ORPHANET:79501 AAGAB 79719 HP:0001597 Abnormality of the nail ORPHANET:79501 AAGAB 79719 HP:0100273 Neoplasm of the colon ORPHANET:79501 AAGAB 79719 HP:0100013 Neoplasm of the breast ORPHANET:79501 AAGAB 79719 HP:0002665 Lymphoma ORPHANET:79501 AAGAB 79719 HP:0002894 Neoplasm of the pancreas ORPHANET:79501 AAGAB 79719 HP:0009726 Renal neoplasm OMIM:268300 ESCO2 157570 HP:0000218 High palate OMIM:268300 ESCO2 157570 HP:0001156 Brachydactyly syndrome OMIM:268300 ESCO2 157570 HP:0000347 Micrognathia OMIM:268300 ESCO2 157570 HP:0001363 Craniosynostosis OMIM:268300 ESCO2 157570 HP:0001180 Oligodactyly (hands) OMIM:268300 ESCO2 157570 HP:0001163 Abnormality of the metacarpal bones OMIM:268300 ESCO2 157570 HP:0006380 Knee flexion contracture OMIM:268300 ESCO2 157570 HP:0002987 Elbow flexion contracture OMIM:268300 ESCO2 157570 HP:0000238 Hydrocephalus OMIM:268300 ESCO2 157570 HP:0000369 Low-set ears OMIM:268300 ESCO2 157570 HP:0000047 Hypospadias OMIM:268300 ESCO2 157570 HP:0003616 Premature separation of centromeric heterochromatin OMIM:268300 ESCO2 157570 HP:0007330 Frontal encephalocele OMIM:268300 ESCO2 157570 HP:0030084 Clinodactyly OMIM:268300 ESCO2 157570 HP:0008683 Enlarged labia minora OMIM:268300 ESCO2 157570 HP:0000431 Wide nasal bridge OMIM:268300 ESCO2 157570 HP:0001631 Defect in the atrial septum OMIM:268300 ESCO2 157570 HP:0000430 Underdeveloped nasal alae OMIM:268300 ESCO2 157570 HP:0000592 Blue sclerae OMIM:268300 ESCO2 157570 HP:0001239 Wrist flexion contracture OMIM:268300 ESCO2 157570 HP:0001561 Polyhydramnios OMIM:268300 ESCO2 157570 HP:0000470 Short neck OMIM:268300 ESCO2 157570 HP:0000113 Polycystic kidney dysplasia OMIM:268300 ESCO2 157570 HP:0000204 Cleft upper lip OMIM:268300 ESCO2 157570 HP:0003826 Stillbirth OMIM:268300 ESCO2 157570 HP:0001159 Syndactyly OMIM:268300 ESCO2 157570 HP:0001629 Ventricular septal defect OMIM:268300 ESCO2 157570 HP:0001080 Biliary tract abnormality OMIM:268300 ESCO2 157570 HP:0000586 Shallow orbits OMIM:268300 ESCO2 157570 HP:0009829 Phocomelia OMIM:268300 ESCO2 157570 HP:0000957 Cafe-au-lait spot OMIM:268300 ESCO2 157570 HP:0000175 Cleft palate OMIM:268300 ESCO2 157570 HP:0008070 Sparse hair OMIM:268300 ESCO2 157570 HP:0007759 Opacification of the corneal stroma OMIM:268300 ESCO2 157570 HP:0000272 Malar flattening OMIM:268300 ESCO2 157570 HP:0008897 Postnatal growth retardation OMIM:268300 ESCO2 157570 HP:0000316 Hypertelorism OMIM:268300 ESCO2 157570 HP:0001772 Talipes equinovalgus OMIM:268300 ESCO2 157570 HP:0000040 Long penis OMIM:268300 ESCO2 157570 HP:0009933 Narrow naris OMIM:268300 ESCO2 157570 HP:0000520 Proptosis OMIM:268300 ESCO2 157570 HP:0000028 Cryptorchidism OMIM:268300 ESCO2 157570 HP:0000248 Brachycephaly OMIM:268300 ESCO2 157570 HP:0001643 Patent ductus arteriosus OMIM:268300 ESCO2 157570 HP:0001747 Accessory spleen OMIM:268300 ESCO2 157570 HP:0000358 Posteriorly rotated ears OMIM:268300 ESCO2 157570 HP:0009466 Radial deviation of finger OMIM:268300 ESCO2 157570 HP:0000813 Bicornuate uterus OMIM:268300 ESCO2 157570 HP:0000518 Cataract OMIM:268300 ESCO2 157570 HP:0000057 Clitoromegaly OMIM:268300 ESCO2 157570 HP:0000625 Cleft eyelid OMIM:268300 ESCO2 157570 HP:0000568 Microphthalmos OMIM:268300 ESCO2 157570 HP:0008846 Severe intrauterine growth retardation OMIM:268300 ESCO2 157570 HP:0006824 Cranial nerve paralysis OMIM:268300 ESCO2 157570 HP:0000494 Downslanted palpebral fissures OMIM:268300 ESCO2 157570 HP:0000252 Microcephaly OMIM:268300 ESCO2 157570 HP:0007452 Midface capillary hemangioma OMIM:268300 ESCO2 157570 HP:0000007 Autosomal recessive inheritance OMIM:268300 ESCO2 157570 HP:0000387 Absent earlobe OMIM:268300 ESCO2 157570 HP:0000085 Horseshoe kidney OMIM:268300 ESCO2 157570 HP:0000476 Cystic hygroma OMIM:268300 ESCO2 157570 HP:0001249 Intellectual disability OMIM:268300 ESCO2 157570 HP:0006466 Ankle contracture OMIM:608782 PDP1 54704 HP:0003128 Lactic acidosis OMIM:608782 PDP1 54704 HP:0001263 Global developmental delay OMIM:608782 PDP1 54704 HP:0000007 Autosomal recessive inheritance OMIM:608782 PDP1 54704 HP:0002928 Decreased activity of the pyruvate dehydrogenase (PDH) complex OMIM:608782 PDP1 54704 HP:0003593 Infantile onset OMIM:608782 PDP1 54704 HP:0001250 Seizures OMIM:608782 PDP1 54704 HP:0002066 Gait ataxia OMIM:608782 PDP1 54704 HP:0001249 Intellectual disability OMIM:608782 PDP1 54704 HP:0002015 Dysphagia OMIM:608782 PDP1 54704 HP:0001252 Muscular hypotonia OMIM:608782 PDP1 54704 HP:0000639 Nystagmus OMIM:600901 FANCE 2178 HP:0000252 Microcephaly OMIM:600901 FANCE 2178 HP:0003214 Prolonged G2 phase of cell cycle OMIM:600901 FANCE 2178 HP:0000086 Ectopic kidney OMIM:600901 FANCE 2178 HP:0003974 Absent radius OMIM:600901 FANCE 2178 HP:0000978 Bruising susceptibility OMIM:600901 FANCE 2178 HP:0001876 Pancytopenia OMIM:600901 FANCE 2178 HP:0000486 Strabismus OMIM:600901 FANCE 2178 HP:0009778 Short thumb OMIM:600901 FANCE 2178 HP:0000104 Renal agenesis OMIM:600901 FANCE 2178 HP:0000028 Cryptorchidism OMIM:600901 FANCE 2178 HP:0001896 Reticulocytopenia OMIM:600901 FANCE 2178 HP:0000081 Duplicated collecting system OMIM:600901 FANCE 2178 HP:0002564 Malformation of the heart and great vessels OMIM:600901 FANCE 2178 HP:0001017 Anemic pallor OMIM:600901 FANCE 2178 HP:0004322 Short stature OMIM:600901 FANCE 2178 HP:0001249 Intellectual disability OMIM:600901 FANCE 2178 HP:0001873 Thrombocytopenia OMIM:600901 FANCE 2178 HP:0000957 Cafe-au-lait spot OMIM:600901 FANCE 2178 HP:0001909 Leukemia OMIM:600901 FANCE 2178 HP:0001518 Small for gestational age OMIM:600901 FANCE 2178 HP:0000365 Hearing impairment OMIM:600901 FANCE 2178 HP:0009943 Complete duplication of thumb phalanx OMIM:600901 FANCE 2178 HP:0003221 Chromosomal breakage induced by crosslinking agents OMIM:600901 FANCE 2178 HP:0001000 Abnormality of skin pigmentation OMIM:600901 FANCE 2178 HP:0009777 Absent thumb OMIM:600901 FANCE 2178 HP:0000815 Hypergonadotropic hypogonadism OMIM:600901 FANCE 2178 HP:0000568 Microphthalmos OMIM:600901 FANCE 2178 HP:0001875 Neutropenia OMIM:600901 FANCE 2178 HP:0000085 Horseshoe kidney OMIM:600901 FANCE 2178 HP:0001903 Anemia OMIM:600901 FANCE 2178 HP:0003213 Deficient excision of UV-induced pyrimidine dimers in DNA OMIM:254450 JAK2 3717 HP:0000006 Autosomal dominant inheritance OMIM:254450 JAK2 3717 HP:0011974 Myelofibrosis OMIM:254450 JAK2 3717 HP:0005547 Myeloproliferative disorder OMIM:254450 MPL 4352 HP:0000006 Autosomal dominant inheritance OMIM:254450 MPL 4352 HP:0011974 Myelofibrosis OMIM:254450 MPL 4352 HP:0005547 Myeloproliferative disorder OMIM:254450 SH2B3 10019 HP:0000006 Autosomal dominant inheritance OMIM:254450 SH2B3 10019 HP:0011974 Myelofibrosis OMIM:254450 SH2B3 10019 HP:0005547 Myeloproliferative disorder OMIM:254450 CALR 811 HP:0000006 Autosomal dominant inheritance OMIM:254450 CALR 811 HP:0011974 Myelofibrosis OMIM:254450 CALR 811 HP:0005547 Myeloproliferative disorder OMIM:300804 OFD1 8481 HP:0002419 Molar tooth sign on MRI OMIM:300804 OFD1 8481 HP:0000431 Wide nasal bridge OMIM:300804 OFD1 8481 HP:0100259 Postaxial polydactyly OMIM:300804 OFD1 8481 HP:0002002 Deep philtrum OMIM:300804 OFD1 8481 HP:0001419 X-linked recessive inheritance OMIM:300804 OFD1 8481 HP:0000510 Retinitis pigmentosa OMIM:300804 OFD1 8481 HP:0008872 Feeding difficulties in infancy OMIM:300804 OFD1 8481 HP:0001510 Growth delay OMIM:300804 OFD1 8481 HP:0002719 Recurrent infections OMIM:300804 OFD1 8481 HP:0001249 Intellectual disability OMIM:300804 OFD1 8481 HP:0000369 Low-set ears OMIM:268400 RECQL4 9401 HP:0000112 Nephropathy OMIM:268400 RECQL4 9401 HP:0000407 Sensorineural hearing impairment OMIM:268400 RECQL4 9401 HP:0001382 Joint hypermobility OMIM:268400 RECQL4 9401 HP:0009778 Short thumb OMIM:268400 RECQL4 9401 HP:0000135 Hypogonadism OMIM:268400 RECQL4 9401 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:268400 RECQL4 9401 HP:0001373 Joint dislocation OMIM:268400 RECQL4 9401 HP:0009804 Reduced number of teeth OMIM:268400 RECQL4 9401 HP:0000965 Cutis marmorata OMIM:268400 RECQL4 9401 HP:0001734 Annular pancreas OMIM:268400 RECQL4 9401 HP:0002804 Arthrogryposis multiplex congenita OMIM:268400 RECQL4 9401 HP:0001545 Anteriorly placed anus OMIM:268400 RECQL4 9401 HP:0000684 Delayed eruption of teeth OMIM:268400 RECQL4 9401 HP:0006349 Agenesis of permanent teeth OMIM:268400 RECQL4 9401 HP:0001376 Limitation of joint mobility OMIM:268400 RECQL4 9401 HP:0000834 Abnormality of the adrenal glands OMIM:268400 RECQL4 9401 HP:0200055 Small hand OMIM:268400 RECQL4 9401 HP:0008070 Sparse hair OMIM:268400 RECQL4 9401 HP:0200042 Skin ulcer OMIM:268400 RECQL4 9401 HP:0002669 Osteosarcoma OMIM:268400 RECQL4 9401 HP:0001231 Abnormality of the fingernails OMIM:268400 RECQL4 9401 HP:0000691 Microdontia OMIM:268400 RECQL4 9401 HP:0001597 Abnormality of the nail OMIM:268400 RECQL4 9401 HP:0004279 Short palm OMIM:268400 RECQL4 9401 HP:0000007 Autosomal recessive inheritance OMIM:268400 RECQL4 9401 HP:0006753 Neoplasm of the stomach OMIM:268400 RECQL4 9401 HP:0000286 Epicanthus OMIM:268400 RECQL4 9401 HP:0000501 Glaucoma OMIM:268400 RECQL4 9401 HP:0000939 Osteoporosis OMIM:268400 RECQL4 9401 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:268400 RECQL4 9401 HP:0007759 Opacification of the corneal stroma OMIM:268400 RECQL4 9401 HP:0002860 Squamous cell carcinoma OMIM:268400 RECQL4 9401 HP:0002024 Malabsorption OMIM:268400 RECQL4 9401 HP:0004334 Dermal atrophy OMIM:268400 RECQL4 9401 HP:0100242 Sarcoma OMIM:268400 RECQL4 9401 HP:0001363 Craniosynostosis OMIM:268400 RECQL4 9401 HP:0002021 Pyloric stenosis OMIM:268400 RECQL4 9401 HP:0006368 Forearm reduction defects OMIM:268400 RECQL4 9401 HP:0001762 Talipes equinovarus OMIM:268400 RECQL4 9401 HP:0002671 Basal cell carcinoma OMIM:268400 RECQL4 9401 HP:0002109 Abnormality of the bronchi OMIM:268400 RECQL4 9401 HP:0002863 Myelodysplasia OMIM:268400 RECQL4 9401 HP:0004349 Reduced bone mineral density OMIM:268400 RECQL4 9401 HP:0003196 Short nose OMIM:268400 RECQL4 9401 HP:0001009 Telangiectasia OMIM:268400 RECQL4 9401 HP:0000078 Abnormality of the genital system OMIM:268400 RECQL4 9401 HP:0001053 Hypopigmented skin patches OMIM:268400 RECQL4 9401 HP:0001773 Short foot OMIM:268400 RECQL4 9401 HP:0000568 Microphthalmos OMIM:268400 RECQL4 9401 HP:0100689 Decreased corneal thickness OMIM:268400 RECQL4 9401 HP:0008065 Aplasia/Hypoplasia of the skin OMIM:268400 RECQL4 9401 HP:0007713 Juvenile zonular cataracts OMIM:268400 RECQL4 9401 HP:0000482 Microcornea OMIM:268400 RECQL4 9401 HP:0000028 Cryptorchidism OMIM:268400 RECQL4 9401 HP:0001029 Poikiloderma OMIM:268400 RECQL4 9401 HP:0005107 Abnormality of the sacrum OMIM:268400 RECQL4 9401 HP:0008069 Neoplasm of the skin OMIM:268400 RECQL4 9401 HP:0011069 Increased number of teeth OMIM:268400 RECQL4 9401 HP:0000992 Cutaneous photosensitivity OMIM:268400 RECQL4 9401 HP:0000252 Microcephaly OMIM:268400 RECQL4 9401 HP:0002007 Frontal bossing OMIM:268400 RECQL4 9401 HP:0000486 Strabismus OMIM:268400 RECQL4 9401 HP:0001903 Anemia OMIM:268400 RECQL4 9401 HP:0007400 Irregular hyperpigmentation OMIM:268400 RECQL4 9401 HP:0000316 Hypertelorism OMIM:268400 RECQL4 9401 HP:0003272 Abnormality of the hip bone OMIM:268400 RECQL4 9401 HP:0006443 Patellar aplasia OMIM:268400 RECQL4 9401 HP:0000518 Cataract OMIM:268400 RECQL4 9401 HP:0001374 Congenital hip dislocation OMIM:268400 RECQL4 9401 HP:0002751 Kyphoscoliosis OMIM:268400 RECQL4 9401 HP:0000303 Mandibular prognathia OMIM:268400 RECQL4 9401 HP:0002216 Premature graying of hair OMIM:268400 RECQL4 9401 HP:0011362 Abnormal hair quantity OMIM:268400 RECQL4 9401 HP:0000322 Short philtrum OMIM:268400 RECQL4 9401 HP:0100543 Cognitive impairment OMIM:268400 RECQL4 9401 HP:0000347 Micrognathia OMIM:268400 RECQL4 9401 HP:0000822 Hypertension OMIM:268400 RECQL4 9401 HP:0000508 Ptosis OMIM:268400 RECQL4 9401 HP:0002017 Nausea and vomiting OMIM:268400 RECQL4 9401 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:268400 RECQL4 9401 HP:0008572 External ear malformation OMIM:268400 RECQL4 9401 HP:0004322 Short stature OMIM:268400 RECQL4 9401 HP:0000962 Hyperkeratosis OMIM:268400 RECQL4 9401 HP:0010701 Abnormal immunoglobulin level OMIM:268400 RECQL4 9401 HP:0001874 Abnormality of neutrophils OMIM:268400 RECQL4 9401 HP:0008066 Abnormal blistering of the skin OMIM:268400 RECQL4 9401 HP:0000490 Deeply set eye OMIM:268400 RECQL4 9401 HP:0002997 Abnormality of the ulna OMIM:268400 RECQL4 9401 HP:0001163 Abnormality of the metacarpal bones OMIM:268400 RECQL4 9401 HP:0000958 Dry skin OMIM:268400 RECQL4 9401 HP:0000202 Oral cleft OMIM:268400 RECQL4 9401 HP:0001596 Alopecia OMIM:268400 RECQL4 9401 HP:0002650 Scoliosis OMIM:268400 RECQL4 9401 HP:0000670 Carious teeth OMIM:268400 RECQL4 9401 HP:0001249 Intellectual disability OMIM:615465 FGFR1 2260 HP:0000054 Micropenis OMIM:615465 FGFR1 2260 HP:0005466 Frontal bone hypoplasia OMIM:615465 FGFR1 2260 HP:0001363 Craniosynostosis OMIM:615465 FGFR1 2260 HP:0000368 Low-set, posteriorly rotated ears OMIM:615465 FGFR1 2260 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:615465 FGFR1 2260 HP:0000204 Cleft upper lip OMIM:615465 FGFR1 2260 HP:0000047 Hypospadias OMIM:615465 FGFR1 2260 HP:0000445 Wide nose OMIM:615465 FGFR1 2260 HP:0005280 Depressed nasal bridge OMIM:615465 FGFR1 2260 HP:0000028 Cryptorchidism OMIM:615465 FGFR1 2260 HP:0000494 Downslanted palpebral fissures OMIM:615465 FGFR1 2260 HP:0002084 Encephalocele OMIM:615465 FGFR1 2260 HP:0000358 Posteriorly rotated ears OMIM:615465 FGFR1 2260 HP:0000286 Epicanthus OMIM:615465 FGFR1 2260 HP:0001159 Syndactyly OMIM:615465 FGFR1 2260 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:615465 FGFR1 2260 HP:0001171 Split hand OMIM:615465 FGFR1 2260 HP:0001274 Agenesis of corpus callosum OMIM:615465 FGFR1 2260 HP:0000369 Low-set ears OMIM:615465 FGFR1 2260 HP:0000006 Autosomal dominant inheritance OMIM:615465 FGFR1 2260 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:615465 FGFR1 2260 HP:0001360 Holoprosencephaly OMIM:615465 FGFR1 2260 HP:0006870 Lobar holoprosencephaly OMIM:615465 FGFR1 2260 HP:0001319 Neonatal hypotonia OMIM:615465 FGFR1 2260 HP:0001263 Global developmental delay OMIM:615465 FGFR1 2260 HP:0000873 Diabetes insipidus OMIM:615465 FGFR1 2260 HP:0008213 Gonadotropin deficiency OMIM:615465 FGFR1 2260 HP:0000508 Ptosis OMIM:615465 FGFR1 2260 HP:0001511 Intrauterine growth retardation OMIM:615465 FGFR1 2260 HP:0100257 Ectrodactyly OMIM:615465 FGFR1 2260 HP:0000316 Hypertelorism OMIM:615465 FGFR1 2260 HP:0000601 Hypotelorism OMIM:615465 FGFR1 2260 HP:0100335 Non-midline cleft lip OMIM:615465 FGFR1 2260 HP:0000252 Microcephaly OMIM:615465 FGFR1 2260 HP:0002093 Respiratory insufficiency OMIM:615465 FGFR1 2260 HP:0000175 Cleft palate OMIM:615465 FGFR1 2260 HP:0100596 Absent nares OMIM:615465 FGFR1 2260 HP:0004408 Abnormality of the sense of smell OMIM:615465 FGFR1 2260 HP:0003228 Hypernatremia OMIM:615465 FGFR1 2260 HP:0000506 Telecanthus OMIM:614816 TGFB2 7042 HP:0100775 Dural ectasia OMIM:614816 TGFB2 7042 HP:0001634 Mitral valve prolapse OMIM:614816 TGFB2 7042 HP:0002107 Pneumothorax OMIM:614816 TGFB2 7042 HP:0002097 Emphysema OMIM:614816 TGFB2 7042 HP:0000494 Downslanted palpebral fissures OMIM:614816 TGFB2 7042 HP:0000766 Abnormality of the sternum OMIM:614816 TGFB2 7042 HP:0002650 Scoliosis OMIM:614816 TGFB2 7042 HP:0000218 High palate OMIM:614816 TGFB2 7042 HP:0000278 Retrognathia OMIM:614816 TGFB2 7042 HP:0000006 Autosomal dominant inheritance OMIM:614816 TGFB2 7042 HP:0001763 Pes planus OMIM:614816 TGFB2 7042 HP:0001647 Bicuspid aortic valve OMIM:614816 TGFB2 7042 HP:0000316 Hypertelorism OMIM:614816 TGFB2 7042 HP:0005692 Joint hyperflexibility OMIM:614816 TGFB2 7042 HP:0001762 Talipes equinovarus OMIM:614816 TGFB2 7042 HP:0001166 Arachnodactyly OMIM:614816 TGFB2 7042 HP:0003302 Spondylolisthesis OMIM:614816 TGFB2 7042 HP:0000023 Inguinal hernia OMIM:614816 TGFB2 7042 HP:0000978 Bruising susceptibility OMIM:614816 TGFB2 7042 HP:0000098 Tall stature OMIM:614816 TGFB2 7042 HP:0005116 Arterial tortuosity OMIM:614816 TGFB2 7042 HP:0002647 Aortic dissection OMIM:277450 GGCX 2677 HP:0009882 Short distal phalanx of finger OMIM:277450 GGCX 2677 HP:0005261 Joint hemorrhage OMIM:277450 GGCX 2677 HP:0000978 Bruising susceptibility OMIM:277450 GGCX 2677 HP:0010655 Epiphyseal stippling OMIM:277450 GGCX 2677 HP:0003645 Prolonged partial thromboplastin time OMIM:277450 GGCX 2677 HP:0000421 Epistaxis OMIM:277450 GGCX 2677 HP:0003196 Short nose OMIM:277450 GGCX 2677 HP:0001892 Abnormal bleeding OMIM:277450 GGCX 2677 HP:0000007 Autosomal recessive inheritance OMIM:300834 RPGR 6103 HP:0001419 X-linked recessive inheritance OMIM:300834 RPGR 6103 HP:0007663 Decreased central vision OMIM:300834 RPGR 6103 HP:0000608 Macular degeneration OMIM:612073 SUCLA2 8803 HP:0001265 Hyporeflexia OMIM:612073 SUCLA2 8803 HP:0000649 Abnormality of vision evoked potentials OMIM:612073 SUCLA2 8803 HP:0002912 Methylmalonic acidemia OMIM:612073 SUCLA2 8803 HP:0000365 Hearing impairment OMIM:612073 SUCLA2 8803 HP:0002059 Cerebral atrophy OMIM:612073 SUCLA2 8803 HP:0000998 Hypertrichosis OMIM:612073 SUCLA2 8803 HP:0000407 Sensorineural hearing impairment OMIM:612073 SUCLA2 8803 HP:0000737 Irritability OMIM:612073 SUCLA2 8803 HP:0000505 Visual impairment OMIM:612073 SUCLA2 8803 HP:0002448 Progressive encephalopathy OMIM:612073 SUCLA2 8803 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:612073 SUCLA2 8803 HP:0004322 Short stature OMIM:612073 SUCLA2 8803 HP:0000007 Autosomal recessive inheritance OMIM:612073 SUCLA2 8803 HP:0000512 Abnormal electroretinogram OMIM:612073 SUCLA2 8803 HP:0001332 Dystonia OMIM:612073 SUCLA2 8803 HP:0001349 Facial diplegia OMIM:612073 SUCLA2 8803 HP:0002311 Incoordination OMIM:612073 SUCLA2 8803 HP:0003128 Lactic acidosis OMIM:612073 SUCLA2 8803 HP:0000708 Behavioral abnormality OMIM:612073 SUCLA2 8803 HP:0006887 Intellectual disability, progressive OMIM:612073 SUCLA2 8803 HP:0000602 Ophthalmoplegia OMIM:612073 SUCLA2 8803 HP:0003202 Skeletal muscle atrophy OMIM:612073 SUCLA2 8803 HP:0001508 Failure to thrive OMIM:612073 SUCLA2 8803 HP:0003355 Aminoaciduria OMIM:612073 SUCLA2 8803 HP:0001263 Global developmental delay OMIM:612073 SUCLA2 8803 HP:0001252 Muscular hypotonia OMIM:612073 SUCLA2 8803 HP:0000762 Decreased nerve conduction velocity OMIM:612073 SUCLA2 8803 HP:0008972 Decreased activity of mitochondrial respiratory chain OMIM:612073 SUCLA2 8803 HP:0002134 Abnormality of the basal ganglia OMIM:612073 SUCLA2 8803 HP:0003593 Infantile onset OMIM:612073 SUCLA2 8803 HP:0100543 Cognitive impairment OMIM:612073 SUCLA2 8803 HP:0004325 Decreased body weight OMIM:612073 SUCLA2 8803 HP:0008945 Loss of ability to walk in early childhood OMIM:612073 SUCLA2 8803 HP:0001315 Reduced tendon reflexes OMIM:612073 SUCLA2 8803 HP:0002514 Cerebral calcification OMIM:612073 SUCLA2 8803 HP:0009830 Peripheral neuropathy OMIM:612073 SUCLA2 8803 HP:0001250 Seizures OMIM:612073 SUCLA2 8803 HP:0002194 Delayed gross motor development OMIM:612073 SUCLA2 8803 HP:0001257 Spasticity OMIM:612073 SUCLA2 8803 HP:0000508 Ptosis OMIM:612073 SUCLA2 8803 HP:0000252 Microcephaly OMIM:612073 SUCLA2 8803 HP:0000486 Strabismus OMIM:612073 SUCLA2 8803 HP:0012120 Methylmalonic aciduria OMIM:612073 SUCLA2 8803 HP:0008872 Feeding difficulties in infancy OMIM:612073 SUCLA2 8803 HP:0002305 Athetosis OMIM:612073 SUCLA2 8803 HP:0003236 Elevated serum creatine phosphokinase OMIM:612073 SUCLA2 8803 HP:0002119 Ventriculomegaly OMIM:615043 C19ORF12 83636 HP:0003828 Variable expressivity OMIM:615043 C19ORF12 83636 HP:0006380 Knee flexion contracture OMIM:615043 C19ORF12 83636 HP:0001761 Pes cavus OMIM:615043 C19ORF12 83636 HP:0001288 Gait disturbance OMIM:615043 C19ORF12 83636 HP:0001258 Spastic paraplegia OMIM:615043 C19ORF12 83636 HP:0006466 Ankle contracture OMIM:615043 C19ORF12 83636 HP:0000007 Autosomal recessive inheritance OMIM:615043 C19ORF12 83636 HP:0001265 Hyporeflexia OMIM:615043 C19ORF12 83636 HP:0002936 Distal sensory impairment OMIM:615043 C19ORF12 83636 HP:0001260 Dysarthria OMIM:615043 C19ORF12 83636 HP:0001347 Hyperreflexia OMIM:615043 C19ORF12 83636 HP:0003487 Babinski sign OMIM:615043 C19ORF12 83636 HP:0003677 Slow progression OMIM:615043 C19ORF12 83636 HP:0003693 Distal amyotrophy OMIM:601338 ATP1A3 478 HP:0001315 Reduced tendon reflexes OMIM:601338 ATP1A3 478 HP:0000618 Blindness OMIM:601338 ATP1A3 478 HP:0000639 Nystagmus OMIM:601338 ATP1A3 478 HP:0006852 Episodic generalized hypotonia OMIM:601338 ATP1A3 478 HP:0001269 Hemiparesis OMIM:601338 ATP1A3 478 HP:0000648 Optic atrophy OMIM:601338 ATP1A3 478 HP:0001324 Muscle weakness OMIM:601338 ATP1A3 478 HP:0001761 Pes cavus OMIM:601338 ATP1A3 478 HP:0000572 Visual loss OMIM:601338 ATP1A3 478 HP:0000508 Ptosis OMIM:601338 ATP1A3 478 HP:0001284 Areflexia OMIM:601338 ATP1A3 478 HP:0000597 Ophthalmoparesis OMIM:601338 ATP1A3 478 HP:0000512 Abnormal electroretinogram OMIM:601338 ATP1A3 478 HP:0001260 Dysarthria OMIM:601338 ATP1A3 478 HP:0002066 Gait ataxia OMIM:601338 ATP1A3 478 HP:0001332 Dystonia OMIM:601338 ATP1A3 478 HP:0002131 Episodic ataxia OMIM:601338 ATP1A3 478 HP:0002311 Incoordination OMIM:601338 ATP1A3 478 HP:0000408 Progressive sensorineural hearing impairment OMIM:601338 ATP1A3 478 HP:0000407 Sensorineural hearing impairment OMIM:601338 ATP1A3 478 HP:0001310 Dysmetria OMIM:601338 ATP1A3 478 HP:0003198 Myopathy OMIM:601338 ATP1A3 478 HP:0002078 Truncal ataxia OMIM:204700 KLK4 9622 HP:0000670 Carious teeth OMIM:204700 KLK4 9622 HP:0000705 Amelogenesis imperfecta OMIM:204700 KLK4 9622 HP:0000007 Autosomal recessive inheritance OMIM:156240 WT1 7490 HP:0100001 Malignant mesothelioma OMIM:225250 NKX2-5 1482 HP:0100028 Ectopic thyroid OMIM:225250 NKX2-5 1482 HP:0001510 Growth delay OMIM:225250 NKX2-5 1482 HP:0000006 Autosomal dominant inheritance OMIM:225250 NKX2-5 1482 HP:0006887 Intellectual disability, progressive OMIM:225250 NKX2-5 1482 HP:0010864 Intellectual disability, severe OMIM:225250 NKX2-5 1482 HP:0005990 Thyroid hypoplasia OMIM:225250 NKX2-5 1482 HP:0001939 Abnormality of metabolism/homeostasis OMIM:225250 NKX2-5 1482 HP:0000851 Congenital hypothyroidism OMIM:613671 SOBP 55084 HP:0000736 Short attention span OMIM:613671 SOBP 55084 HP:0000007 Autosomal recessive inheritance OMIM:613671 SOBP 55084 HP:0010864 Intellectual disability, severe OMIM:613671 SOBP 55084 HP:0001263 Global developmental delay OMIM:613671 SOBP 55084 HP:0000646 Amblyopia OMIM:613671 SOBP 55084 HP:0000540 Hypermetropia OMIM:613671 SOBP 55084 HP:0010807 Open bite OMIM:613671 SOBP 55084 HP:0002465 Poor speech OMIM:613671 SOBP 55084 HP:0000709 Psychosis OMIM:613671 SOBP 55084 HP:0000565 Esotropia OMIM:613671 SOBP 55084 HP:0000750 Delayed speech and language development OMIM:615438 LARS 51520 HP:0006554 Acute hepatic failure OMIM:615438 LARS 51520 HP:0001250 Seizures OMIM:615438 LARS 51520 HP:0001903 Anemia OMIM:615438 LARS 51520 HP:0000007 Autosomal recessive inheritance OMIM:615438 LARS 51520 HP:0001263 Global developmental delay OMIM:615438 LARS 51520 HP:0001508 Failure to thrive OMIM:250950 AUH 549 HP:0100543 Cognitive impairment OMIM:250950 AUH 549 HP:0001251 Ataxia OMIM:250950 AUH 549 HP:0000252 Microcephaly OMIM:250950 AUH 549 HP:0002352 Leukoencephalopathy OMIM:250950 AUH 549 HP:0001260 Dysarthria OMIM:250950 AUH 549 HP:0001263 Global developmental delay OMIM:250950 AUH 549 HP:0001250 Seizures OMIM:250950 AUH 549 HP:0000736 Short attention span OMIM:250950 AUH 549 HP:0000020 Urinary incontinence OMIM:250950 AUH 549 HP:0001942 Metabolic acidosis OMIM:250950 AUH 549 HP:0004374 Hemiplegia/hemiparesis OMIM:250950 AUH 549 HP:0000648 Optic atrophy OMIM:250950 AUH 549 HP:0002510 Spastic tetraplegia OMIM:250950 AUH 549 HP:0002373 Febrile seizures OMIM:250950 AUH 549 HP:0001332 Dystonia OMIM:250950 AUH 549 HP:0003535 3-Methylglutaconic aciduria OMIM:250950 AUH 549 HP:0002305 Athetosis OMIM:250950 AUH 549 HP:0000750 Delayed speech and language development OMIM:250950 AUH 549 HP:0001508 Failure to thrive OMIM:250950 AUH 549 HP:0000007 Autosomal recessive inheritance OMIM:250950 AUH 549 HP:0002240 Hepatomegaly OMIM:250950 AUH 549 HP:0003812 Phenotypic variability OMIM:250950 AUH 549 HP:0003593 Infantile onset OMIM:250950 AUH 549 HP:0001347 Hyperreflexia OMIM:250950 AUH 549 HP:0001943 Hypoglycemia OMIM:250950 AUH 549 HP:0001270 Motor delay OMIM:250950 AUH 549 HP:0002059 Cerebral atrophy OMIM:615476 SZT2 23334 HP:0000508 Ptosis OMIM:615476 SZT2 23334 HP:0002121 Absence seizures OMIM:615476 SZT2 23334 HP:0000494 Downslanted palpebral fissures OMIM:615476 SZT2 23334 HP:0000007 Autosomal recessive inheritance OMIM:615476 SZT2 23334 HP:0200134 Epileptic encephalopathy OMIM:615476 SZT2 23334 HP:0007359 Focal seizures OMIM:615476 SZT2 23334 HP:0002553 Highly arched eyebrow OMIM:615476 SZT2 23334 HP:0000348 High forehead OMIM:615476 SZT2 23334 HP:0001252 Muscular hypotonia OMIM:615476 SZT2 23334 HP:0001265 Hyporeflexia OMIM:615476 SZT2 23334 HP:0001263 Global developmental delay OMIM:615476 SZT2 23334 HP:0002353 EEG abnormality OMIM:615476 SZT2 23334 HP:0007074 Thick corpus callosum OMIM:615731 KLHL41 10324 HP:0002650 Scoliosis OMIM:615731 KLHL41 10324 HP:0000774 Narrow chest OMIM:615731 KLHL41 10324 HP:0001623 Breech presentation OMIM:615731 KLHL41 10324 HP:0003828 Variable expressivity OMIM:615731 KLHL41 10324 HP:0001989 Fetal akinesia sequence OMIM:615731 KLHL41 10324 HP:0000007 Autosomal recessive inheritance OMIM:615731 KLHL41 10324 HP:0000175 Cleft palate OMIM:615731 KLHL41 10324 HP:0001324 Muscle weakness OMIM:615731 KLHL41 10324 HP:0002804 Arthrogryposis multiplex congenita OMIM:615731 KLHL41 10324 HP:0002093 Respiratory insufficiency OMIM:615731 KLHL41 10324 HP:0000347 Micrognathia OMIM:615731 KLHL41 10324 HP:0000218 High palate OMIM:615731 KLHL41 10324 HP:0001270 Motor delay OMIM:300887 COX7B 1349 HP:0002092 Pulmonary hypertension OMIM:300887 COX7B 1349 HP:0000252 Microcephaly OMIM:300887 COX7B 1349 HP:0000348 High forehead OMIM:300887 COX7B 1349 HP:0000358 Posteriorly rotated ears OMIM:300887 COX7B 1349 HP:0000505 Visual impairment OMIM:300887 COX7B 1349 HP:0000331 Short chin OMIM:300887 COX7B 1349 HP:0001263 Global developmental delay OMIM:300887 COX7B 1349 HP:0001714 Ventricular hypertrophy OMIM:300887 COX7B 1349 HP:0002079 Hypoplasia of the corpus callosum OMIM:300887 COX7B 1349 HP:0001057 Aplasia cutis congenita OMIM:300887 COX7B 1349 HP:0001423 X-linked dominant inheritance OMIM:300887 COX7B 1349 HP:0000543 Optic disc pallor OMIM:300887 COX7B 1349 HP:0000545 Myopia OMIM:300887 COX7B 1349 HP:0006610 Wide intermamillary distance OMIM:300887 COX7B 1349 HP:0001999 Abnormal facial shape OMIM:300887 COX7B 1349 HP:0004322 Short stature OMIM:300887 COX7B 1349 HP:0002553 Highly arched eyebrow OMIM:300887 COX7B 1349 HP:0003196 Short nose OMIM:300887 COX7B 1349 HP:0001636 Tetralogy of Fallot OMIM:300887 COX7B 1349 HP:0000316 Hypertelorism OMIM:300887 COX7B 1349 HP:0001852 Sandal gap OMIM:300887 COX7B 1349 HP:0001631 Defect in the atrial septum OMIM:300887 COX7B 1349 HP:0012448 Delayed myelination OMIM:300887 COX7B 1349 HP:0000343 Long philtrum OMIM:609308 POMT1 10585 HP:0003560 Muscular dystrophy OMIM:609308 POMT1 10585 HP:0003828 Variable expressivity OMIM:609308 POMT1 10585 HP:0003306 Spinal rigidity OMIM:609308 POMT1 10585 HP:0000007 Autosomal recessive inheritance OMIM:609308 POMT1 10585 HP:0001249 Intellectual disability OMIM:609308 POMT1 10585 HP:0001270 Motor delay OMIM:609308 POMT1 10585 HP:0002938 Lumbar hyperlordosis OMIM:609308 POMT1 10585 HP:0000252 Microcephaly OMIM:609308 POMT1 10585 HP:0003593 Infantile onset OMIM:609308 POMT1 10585 HP:0003325 Limb-girdle muscle weakness OMIM:609308 POMT1 10585 HP:0003677 Slow progression OMIM:609308 POMT1 10585 HP:0003551 Difficulty climbing stairs OMIM:609308 POMT1 10585 HP:0001638 Cardiomyopathy OMIM:609308 POMT1 10585 HP:0003388 Easy fatigability OMIM:609308 POMT1 10585 HP:0001371 Flexion contracture OMIM:609308 POMT1 10585 HP:0003236 Elevated serum creatine phosphokinase OMIM:609308 POMT1 10585 HP:0002355 Difficulty walking OMIM:612938 FTO 79068 HP:0000158 Macroglossia OMIM:612938 FTO 79068 HP:0001508 Failure to thrive OMIM:612938 FTO 79068 HP:0000028 Cryptorchidism OMIM:612938 FTO 79068 HP:0002678 Skull asymmetry OMIM:612938 FTO 79068 HP:0001643 Patent ductus arteriosus OMIM:612938 FTO 79068 HP:0001792 Small nail OMIM:612938 FTO 79068 HP:0001629 Ventricular septal defect OMIM:612938 FTO 79068 HP:0000252 Microcephaly OMIM:612938 FTO 79068 HP:0000407 Sensorineural hearing impairment OMIM:612938 FTO 79068 HP:0000965 Cutis marmorata OMIM:612938 FTO 79068 HP:0001250 Seizures OMIM:612938 FTO 79068 HP:0000007 Autosomal recessive inheritance OMIM:612938 FTO 79068 HP:0001276 Hypertonia OMIM:612938 FTO 79068 HP:0000238 Hydrocephalus OMIM:612938 FTO 79068 HP:0001639 Hypertrophic cardiomyopathy OMIM:612938 FTO 79068 HP:0001339 Lissencephaly OMIM:612938 FTO 79068 HP:0001263 Global developmental delay OMIM:612938 FTO 79068 HP:0010808 Protruding tongue OMIM:612938 FTO 79068 HP:0001156 Brachydactyly syndrome OMIM:612938 FTO 79068 HP:0000470 Short neck OMIM:612938 FTO 79068 HP:0001537 Umbilical hernia OMIM:612938 FTO 79068 HP:0001513 Obesity OMIM:612938 FTO 79068 HP:0000278 Retrognathia OMIM:612938 FTO 79068 HP:0000175 Cleft palate OMIM:612938 FTO 79068 HP:0000280 Coarse facial features OMIM:612938 FTO 79068 HP:0001305 Dandy-Walker malformation OMIM:612938 FTO 79068 HP:0001511 Intrauterine growth retardation OMIM:612938 FTO 79068 HP:0000463 Anteverted nares OMIM:612938 FTO 79068 HP:0000193 Bifid uvula OMIM:258870 OAT 4942 HP:0000545 Myopia OMIM:258870 OAT 4942 HP:0003457 EMG abnormality OMIM:258870 OAT 4942 HP:0007787 Posterior subcapsular cataract OMIM:258870 OAT 4942 HP:0003701 Proximal muscle weakness OMIM:258870 OAT 4942 HP:0000618 Blindness OMIM:258870 OAT 4942 HP:0001939 Abnormality of metabolism/homeostasis OMIM:258870 OAT 4942 HP:0000007 Autosomal recessive inheritance OMIM:258870 OAT 4942 HP:0000662 Night blindness OMIM:258870 OAT 4942 HP:0000533 Chorioretinal atrophy OMIM:615159 UQCRQ 27089 HP:0001347 Hyperreflexia OMIM:615159 UQCRQ 27089 HP:0000007 Autosomal recessive inheritance OMIM:615159 UQCRQ 27089 HP:0001252 Muscular hypotonia OMIM:615159 UQCRQ 27089 HP:0001251 Ataxia OMIM:615159 UQCRQ 27089 HP:0001249 Intellectual disability OMIM:615159 UQCRQ 27089 HP:0002071 Abnormality of extrapyramidal motor function OMIM:615159 UQCRQ 27089 HP:0002151 Increased serum lactate OMIM:615159 UQCRQ 27089 HP:0001344 Absent speech OMIM:615159 UQCRQ 27089 HP:0001263 Global developmental delay OMIM:615159 UQCRQ 27089 HP:0001332 Dystonia OMIM:615159 UQCRQ 27089 HP:0002305 Athetosis OMIM:611719 MRPS22 56945 HP:0003577 Congenital onset OMIM:611719 MRPS22 56945 HP:0002352 Leukoencephalopathy OMIM:611719 MRPS22 56945 HP:0001942 Metabolic acidosis OMIM:611719 MRPS22 56945 HP:0001560 Abnormality of the amniotic fluid OMIM:611719 MRPS22 56945 HP:0008936 Muscular hypotonia of the trunk OMIM:611719 MRPS22 56945 HP:0002079 Hypoplasia of the corpus callosum OMIM:611719 MRPS22 56945 HP:0000007 Autosomal recessive inheritance OMIM:611719 MRPS22 56945 HP:0000278 Retrognathia OMIM:611719 MRPS22 56945 HP:0000252 Microcephaly OMIM:611719 MRPS22 56945 HP:0000358 Posteriorly rotated ears OMIM:611719 MRPS22 56945 HP:0002510 Spastic tetraplegia OMIM:611719 MRPS22 56945 HP:0000369 Low-set ears OMIM:611719 MRPS22 56945 HP:0001639 Hypertrophic cardiomyopathy OMIM:611719 MRPS22 56945 HP:0012448 Delayed myelination OMIM:611719 MRPS22 56945 HP:0001522 Death in infancy OMIM:611719 MRPS22 56945 HP:0000969 Edema OMIM:611719 MRPS22 56945 HP:0001510 Growth delay OMIM:611719 MRPS22 56945 HP:0005989 Redundant neck skin OMIM:611719 MRPS22 56945 HP:0002151 Increased serum lactate OMIM:611719 MRPS22 56945 HP:0000091 Abnormality of the renal tubule OMIM:611719 MRPS22 56945 HP:0001250 Seizures OMIM:611719 MRPS22 56945 HP:0001541 Ascites OMIM:614514 PROS1 5627 HP:0100724 Hypercoagulability OMIM:614514 PROS1 5627 HP:0002204 Pulmonary embolism OMIM:614514 PROS1 5627 HP:0000618 Blindness OMIM:614514 PROS1 5627 HP:0000007 Autosomal recessive inheritance OMIM:614514 PROS1 5627 HP:0002638 Superficial thrombophlebitis OMIM:614514 PROS1 5627 HP:0005521 Disseminated intravascular coagulation OMIM:614514 PROS1 5627 HP:0005305 Cerebral venous thrombosis OMIM:614514 PROS1 5627 HP:0004420 Arterial thrombosis OMIM:613652 C1QB 713 HP:0002719 Recurrent infections OMIM:613652 C1QB 713 HP:0000793 Membranoproliferative glomerulonephritis OMIM:613652 C1QB 713 HP:0000007 Autosomal recessive inheritance OMIM:613652 C1QB 713 HP:0005356 Decreased serum complement factor I OMIM:613652 C1QB 713 HP:0002725 Systemic lupus erythematosus OMIM:613652 C1QA 712 HP:0002719 Recurrent infections OMIM:613652 C1QA 712 HP:0000793 Membranoproliferative glomerulonephritis OMIM:613652 C1QA 712 HP:0000007 Autosomal recessive inheritance OMIM:613652 C1QA 712 HP:0005356 Decreased serum complement factor I OMIM:613652 C1QA 712 HP:0002725 Systemic lupus erythematosus OMIM:613652 C1QC 714 HP:0002719 Recurrent infections OMIM:613652 C1QC 714 HP:0000793 Membranoproliferative glomerulonephritis OMIM:613652 C1QC 714 HP:0000007 Autosomal recessive inheritance OMIM:613652 C1QC 714 HP:0005356 Decreased serum complement factor I OMIM:613652 C1QC 714 HP:0002725 Systemic lupus erythematosus OMIM:201710 STAR 6770 HP:0008258 Congenital adrenal hyperplasia OMIM:201710 STAR 6770 HP:0000047 Hypospadias OMIM:201710 STAR 6770 HP:0000127 Renal salt wasting OMIM:201710 STAR 6770 HP:0000007 Autosomal recessive inheritance OMIM:201710 STAR 6770 HP:0000840 Adrenogenital syndrome OMIM:136820 FUCA2 2519 HP:0001939 Abnormality of metabolism/homeostasis OMIM:616002 PAX2 5076 HP:0000100 Nephrotic syndrome OMIM:616002 PAX2 5076 HP:0000089 Renal hypoplasia OMIM:616002 PAX2 5076 HP:0000097 Focal segmental glomerulosclerosis OMIM:616002 PAX2 5076 HP:0000093 Proteinuria OMIM:616002 PAX2 5076 HP:0003774 Stage 5 chronic kidney disease OMIM:612348 PLAT 5327 HP:0100724 Hypercoagulability OMIM:612348 PLAT 5327 HP:0004850 Recurrent deep vein thrombosis OMIM:612348 PLAT 5327 HP:0000006 Autosomal dominant inheritance OMIM:238700 AASS 10157 HP:0000007 Autosomal recessive inheritance OMIM:238700 AASS 10157 HP:0100543 Cognitive impairment OMIM:238700 AASS 10157 HP:0000750 Delayed speech and language development OMIM:238700 AASS 10157 HP:0001249 Intellectual disability OMIM:238700 AASS 10157 HP:0003593 Infantile onset OMIM:238700 AASS 10157 HP:0001250 Seizures OMIM:238700 AASS 10157 HP:0000736 Short attention span OMIM:238700 AASS 10157 HP:0002161 Hyperlysinemia OMIM:238700 AASS 10157 HP:0000119 Abnormality of the genitourinary system OMIM:238700 AASS 10157 HP:0001083 Ectopia lentis OMIM:238700 AASS 10157 HP:0003812 Phenotypic variability OMIM:238700 AASS 10157 HP:0000752 Hyperactivity OMIM:238700 AASS 10157 HP:0001903 Anemia OMIM:238700 AASS 10157 HP:0001252 Muscular hypotonia OMIM:233910 GCH1 2643 HP:0001337 Tremor OMIM:233910 GCH1 2643 HP:0006887 Intellectual disability, progressive OMIM:233910 GCH1 2643 HP:0002509 Limb hypertonia OMIM:233910 GCH1 2643 HP:0004923 Hyperphenylalaninemia OMIM:233910 GCH1 2643 HP:0002063 Rigidity OMIM:233910 GCH1 2643 HP:0003781 Excessive salivation OMIM:233910 GCH1 2643 HP:0000496 Abnormality of eye movement OMIM:233910 GCH1 2643 HP:0001254 Lethargy OMIM:233910 GCH1 2643 HP:0001250 Seizures OMIM:233910 GCH1 2643 HP:0002487 Hyperkinesis OMIM:233910 GCH1 2643 HP:0001332 Dystonia OMIM:233910 GCH1 2643 HP:0001266 Choreoathetosis OMIM:233910 GCH1 2643 HP:0006829 Severe muscular hypotonia OMIM:233910 GCH1 2643 HP:0003828 Variable expressivity OMIM:233910 GCH1 2643 HP:0003593 Infantile onset OMIM:233910 GCH1 2643 HP:0002015 Dysphagia OMIM:233910 GCH1 2643 HP:0002344 Progressive neurologic deterioration OMIM:233910 GCH1 2643 HP:0001954 Episodic fever OMIM:233910 GCH1 2643 HP:0000737 Irritability OMIM:233910 GCH1 2643 HP:0000007 Autosomal recessive inheritance OMIM:233910 GCH1 2643 HP:0001263 Global developmental delay OMIM:300855 NAA10 8260 HP:0004755 Supraventricular tachycardia OMIM:300855 NAA10 8260 HP:0000535 Sparse eyebrow OMIM:300855 NAA10 8260 HP:0002059 Cerebral atrophy OMIM:300855 NAA10 8260 HP:0000270 Delayed cranial suture closure OMIM:300855 NAA10 8260 HP:0001419 X-linked recessive inheritance OMIM:300855 NAA10 8260 HP:0000494 Downslanted palpebral fissures OMIM:300855 NAA10 8260 HP:0000520 Proptosis OMIM:300855 NAA10 8260 HP:0009762 Facial wrinkling OMIM:300855 NAA10 8260 HP:0003717 Minimal subcutaneous fat OMIM:300855 NAA10 8260 HP:0004756 Ventricular tachycardia OMIM:300855 NAA10 8260 HP:0001582 Redundant skin OMIM:300855 NAA10 8260 HP:0010055 Broad hallux OMIM:300855 NAA10 8260 HP:0000023 Inguinal hernia OMIM:300855 NAA10 8260 HP:0000430 Underdeveloped nasal alae OMIM:300855 NAA10 8260 HP:0001631 Defect in the atrial septum OMIM:300855 NAA10 8260 HP:0002650 Scoliosis OMIM:300855 NAA10 8260 HP:0000308 Microretrognathia OMIM:300855 NAA10 8260 HP:0004415 Pulmonary artery stenosis OMIM:300855 NAA10 8260 HP:0000028 Cryptorchidism OMIM:300855 NAA10 8260 HP:0000215 Thick upper lip vermilion OMIM:300855 NAA10 8260 HP:0002000 Short columella OMIM:300855 NAA10 8260 HP:0005288 Abnormality of the nares OMIM:300855 NAA10 8260 HP:0001629 Ventricular septal defect OMIM:300855 NAA10 8260 HP:0006682 Ventricular extrasystoles OMIM:300855 NAA10 8260 HP:0000400 Macrotia OMIM:300855 NAA10 8260 HP:0002213 Fine hair OMIM:300855 NAA10 8260 HP:0008897 Postnatal growth retardation OMIM:300855 NAA10 8260 HP:0001276 Hypertonia OMIM:300855 NAA10 8260 HP:0001664 Torsade de pointes OMIM:600204 COL9A2 1298 HP:0004279 Short palm OMIM:600204 COL9A2 1298 HP:0003071 Flattened epiphysis OMIM:600204 COL9A2 1298 HP:0003502 Mild short stature OMIM:600204 COL9A2 1298 HP:0005086 Knee osteoarthritis OMIM:600204 COL9A2 1298 HP:0002515 Waddling gait OMIM:600204 COL9A2 1298 HP:0000006 Autosomal dominant inheritance OMIM:600204 COL9A2 1298 HP:0002970 Genu varum OMIM:600204 COL9A2 1298 HP:0002656 Epiphyseal dysplasia OMIM:600204 COL9A2 1298 HP:0010582 Irregular epiphyses OMIM:246200 INSR 3643 HP:0000154 Wide mouth OMIM:246200 INSR 3643 HP:0001943 Hypoglycemia OMIM:246200 INSR 3643 HP:0000212 Gingival overgrowth OMIM:246200 INSR 3643 HP:0000040 Long penis OMIM:246200 INSR 3643 HP:0000429 Abnormality of the nasal alae OMIM:246200 INSR 3643 HP:0000998 Hypertrichosis OMIM:246200 INSR 3643 HP:0003202 Skeletal muscle atrophy OMIM:246200 INSR 3643 HP:0003162 Fasting hypoglycemia OMIM:246200 INSR 3643 HP:0000179 Thick lower lip vermilion OMIM:246200 INSR 3643 HP:0008897 Postnatal growth retardation OMIM:246200 INSR 3643 HP:0001396 Cholestasis OMIM:246200 INSR 3643 HP:0000520 Proptosis OMIM:246200 INSR 3643 HP:0000028 Cryptorchidism OMIM:246200 INSR 3643 HP:0004428 Elfin facies OMIM:246200 INSR 3643 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature OMIM:246200 INSR 3643 HP:0003270 Abdominal distention OMIM:246200 INSR 3643 HP:0005280 Depressed nasal bridge OMIM:246200 INSR 3643 HP:0000057 Clitoromegaly OMIM:246200 INSR 3643 HP:0000274 Small face OMIM:246200 INSR 3643 HP:0000138 Ovarian cyst OMIM:246200 INSR 3643 HP:0000842 Hyperinsulinemia OMIM:246200 INSR 3643 HP:0001034 Hypermelanotic macule OMIM:246200 INSR 3643 HP:0005978 Type II diabetes mellitus OMIM:246200 INSR 3643 HP:0008872 Feeding difficulties in infancy OMIM:246200 INSR 3643 HP:0001537 Umbilical hernia OMIM:246200 INSR 3643 HP:0001511 Intrauterine growth retardation OMIM:246200 INSR 3643 HP:0002750 Delayed skeletal maturation OMIM:246200 INSR 3643 HP:0000368 Low-set, posteriorly rotated ears OMIM:246200 INSR 3643 HP:0001525 Severe failure to thrive OMIM:246200 INSR 3643 HP:0000316 Hypertelorism OMIM:246200 INSR 3643 HP:0002205 Recurrent respiratory infections OMIM:246200 INSR 3643 HP:0000956 Acanthosis nigricans OMIM:246200 INSR 3643 HP:0000474 Thickened nuchal skin fold OMIM:246200 INSR 3643 HP:0008887 Adipose tissue loss OMIM:246200 INSR 3643 HP:0011998 Postprandial hyperglycemia OMIM:246200 INSR 3643 HP:0000174 Abnormality of the palate OMIM:246200 INSR 3643 HP:0000400 Macrotia OMIM:246200 INSR 3643 HP:0001392 Abnormality of the liver OMIM:246200 INSR 3643 HP:0001833 Long foot OMIM:246200 INSR 3643 HP:0004298 Abnormality of the abdominal wall OMIM:246200 INSR 3643 HP:0000369 Low-set ears OMIM:246200 INSR 3643 HP:0100543 Cognitive impairment OMIM:246200 INSR 3643 HP:0000364 Hearing abnormality OMIM:246200 INSR 3643 HP:0001999 Abnormal facial shape OMIM:246200 INSR 3643 HP:0004322 Short stature OMIM:246200 INSR 3643 HP:0100578 Lipoatrophy OMIM:246200 INSR 3643 HP:0000252 Microcephaly OMIM:246200 INSR 3643 HP:0002719 Recurrent infections OMIM:246200 INSR 3643 HP:0010458 Female pseudohermaphroditism OMIM:246200 INSR 3643 HP:0000962 Hyperkeratosis OMIM:246200 INSR 3643 HP:0001395 Hepatic fibrosis OMIM:246200 INSR 3643 HP:0004405 Prominent nipples OMIM:246200 INSR 3643 HP:0003074 Hyperglycemia OMIM:246200 INSR 3643 HP:0004510 Pancreatic islet-cell hyperplasia OMIM:246200 INSR 3643 HP:0001176 Large hands OMIM:246200 INSR 3643 HP:0002164 Nail dysplasia OMIM:246200 INSR 3643 HP:0000007 Autosomal recessive inheritance OMIM:246200 INSR 3643 HP:0004325 Decreased body weight OMIM:246200 INSR 3643 HP:0000771 Gynecomastia OMIM:246200 INSR 3643 HP:0000826 Precocious puberty OMIM:602522 BSND 7809 HP:0000859 Hyperaldosteronism OMIM:602522 BSND 7809 HP:0002900 Hypokalemia OMIM:602522 BSND 7809 HP:0000103 Polyuria OMIM:602522 BSND 7809 HP:0001622 Premature birth OMIM:602522 BSND 7809 HP:0002902 Hyponatremia OMIM:602522 BSND 7809 HP:0005576 Tubulointerstitial fibrosis OMIM:602522 BSND 7809 HP:0000969 Edema OMIM:602522 BSND 7809 HP:0001425 Heterogeneous OMIM:602522 BSND 7809 HP:0001270 Motor delay OMIM:602522 BSND 7809 HP:0002914 Hyperchloridura OMIM:602522 BSND 7809 HP:0005565 Reduced renal corticomedullary differentiation OMIM:602522 BSND 7809 HP:0000083 Renal insufficiency OMIM:602522 BSND 7809 HP:0000007 Autosomal recessive inheritance OMIM:602522 BSND 7809 HP:0003577 Congenital onset OMIM:602522 BSND 7809 HP:0012605 Hypernatriuria OMIM:602522 BSND 7809 HP:0001252 Muscular hypotonia OMIM:602522 BSND 7809 HP:0004737 Global glomerulosclerosis OMIM:602522 BSND 7809 HP:0000127 Renal salt wasting OMIM:602522 BSND 7809 HP:0001265 Hyporeflexia OMIM:602522 BSND 7809 HP:0003081 Increased urinary potassium OMIM:602522 BSND 7809 HP:0001249 Intellectual disability OMIM:602522 BSND 7809 HP:0001561 Polyhydramnios OMIM:602522 BSND 7809 HP:0001563 Fetal polyuria OMIM:602522 BSND 7809 HP:0012213 Decreased glomerular filtration rate OMIM:602522 BSND 7809 HP:0001789 Hydrops fetalis OMIM:602522 BSND 7809 HP:0001508 Failure to thrive OMIM:602522 BSND 7809 HP:0003113 Hypochloremia OMIM:602522 BSND 7809 HP:0004909 Hypokalemic hypochloremic metabolic alkalosis OMIM:602522 BSND 7809 HP:0000407 Sensorineural hearing impairment OMIM:251450 CANT1 124583 HP:0100864 Short femoral neck OMIM:251450 CANT1 124583 HP:0000160 Narrow mouth OMIM:251450 CANT1 124583 HP:0008082 Medial deviation of the foot OMIM:251450 CANT1 124583 HP:0008108 Advanced tarsal ossification OMIM:251450 CANT1 124583 HP:0001762 Talipes equinovarus OMIM:251450 CANT1 124583 HP:0001513 Obesity OMIM:251450 CANT1 124583 HP:0000007 Autosomal recessive inheritance OMIM:251450 CANT1 124583 HP:0010097 Partial duplication of the distal phalanx of the hallux OMIM:251450 CANT1 124583 HP:0002673 Coxa valga OMIM:251450 CANT1 124583 HP:0001087 Congenital glaucoma OMIM:251450 CANT1 124583 HP:0003071 Flattened epiphysis OMIM:251450 CANT1 124583 HP:0002970 Genu varum OMIM:251450 CANT1 124583 HP:0003196 Short nose OMIM:251450 CANT1 124583 HP:0008873 Disproportionate short-limb short stature OMIM:251450 CANT1 124583 HP:0006243 Phalangeal dislocation OMIM:251450 CANT1 124583 HP:0000308 Microretrognathia OMIM:251450 CANT1 124583 HP:0000470 Short neck OMIM:251450 CANT1 124583 HP:0006439 Radioulnar dislocation OMIM:251450 CANT1 124583 HP:0000939 Osteoporosis OMIM:251450 CANT1 124583 HP:0003307 Hyperlordosis OMIM:251450 CANT1 124583 HP:0001852 Sandal gap OMIM:251450 CANT1 124583 HP:0000520 Proptosis OMIM:251450 CANT1 124583 HP:0002515 Waddling gait OMIM:251450 CANT1 124583 HP:0000774 Narrow chest OMIM:251450 CANT1 124583 HP:0010743 Short metatarsal OMIM:251450 CANT1 124583 HP:0001388 Joint laxity OMIM:251450 CANT1 124583 HP:0009611 Bifid distal phalanx of the thumb OMIM:251450 CANT1 124583 HP:0002650 Scoliosis OMIM:251450 CANT1 124583 HP:0001270 Motor delay OMIM:251450 CANT1 124583 HP:0010068 Broad first metatarsal OMIM:251450 CANT1 124583 HP:0003016 Metaphyseal widening OMIM:251450 CANT1 124583 HP:0001156 Brachydactyly syndrome OMIM:251450 CANT1 124583 HP:0001252 Muscular hypotonia OMIM:251450 CANT1 124583 HP:0001249 Intellectual disability OMIM:251450 CANT1 124583 HP:0002758 Osteoarthritis OMIM:251450 CANT1 124583 HP:0006429 Broad femoral neck OMIM:251450 CANT1 124583 HP:0010034 Short 1st metacarpal OMIM:251450 CANT1 124583 HP:0002812 Coxa vara OMIM:251450 CANT1 124583 HP:0011800 Midface retrusion OMIM:251450 CANT1 124583 HP:0000272 Malar flattening OMIM:251450 CANT1 124583 HP:0004233 Advanced ossification of carpal bones OMIM:251450 CANT1 124583 HP:0003828 Variable expressivity OMIM:251450 CANT1 124583 HP:0000545 Myopia OMIM:251450 CANT1 124583 HP:0003180 Flat acetabular roof OMIM:251450 CANT1 124583 HP:0003510 Severe short stature OMIM:251450 CANT1 124583 HP:0000311 Round face OMIM:251450 CANT1 124583 HP:0000926 Platyspondyly OMIM:251450 CANT1 124583 HP:0005067 Proximal fibular overgrowth OMIM:251450 CANT1 124583 HP:0001763 Pes planus OMIM:251450 CANT1 124583 HP:0002808 Kyphosis OMIM:251450 CANT1 124583 HP:0005280 Depressed nasal bridge OMIM:613882 CNNM2 54805 HP:0002321 Vertigo OMIM:613882 CNNM2 54805 HP:0001324 Muscle weakness OMIM:613882 CNNM2 54805 HP:0000006 Autosomal dominant inheritance OMIM:613882 CNNM2 54805 HP:0002315 Headache OMIM:613882 CNNM2 54805 HP:0002917 Hypomagnesemia ORPHANET:261295 BMP2 650 HP:0100543 Cognitive impairment ORPHANET:261295 BMP2 650 HP:0011675 Arrhythmia ORPHANET:261295 BMP2 650 HP:0000286 Epicanthus ORPHANET:261295 BMP2 650 HP:0004322 Short stature ORPHANET:261295 BMP2 650 HP:0000160 Narrow mouth ORPHANET:261295 BMP2 650 HP:0000391 Thickened helices ORPHANET:261295 BMP2 650 HP:0001631 Defect in the atrial septum ORPHANET:261295 BMP2 650 HP:0010669 Cheekbone underdevelopment ORPHANET:261295 BMP2 650 HP:0001841 Preaxial foot polydactyly ORPHANET:261295 BMP2 650 HP:0000431 Wide nasal bridge ORPHANET:261295 BMP2 650 HP:0000293 Full cheeks ORPHANET:261295 BMP2 650 HP:0009602 Abnormality of thumb phalanx ORPHANET:261295 BMP2 650 HP:0002119 Ventriculomegaly ORPHANET:261295 BMP2 650 HP:0000343 Long philtrum ORPHANET:261295 BMP2 650 HP:0000316 Hypertelorism ORPHANET:261295 BMP2 650 HP:0001250 Seizures ORPHANET:261295 BMP2 650 HP:0000494 Downslanted palpebral fissures ORPHANET:261295 BMP2 650 HP:0000768 Pectus carinatum ORPHANET:261295 BMP2 650 HP:0000256 Macrocephaly ORPHANET:261295 BMP2 650 HP:0001252 Muscular hypotonia OMIM:613038 POU1F1 5449 HP:0000490 Deeply set eye OMIM:613038 POU1F1 5449 HP:0004322 Short stature OMIM:613038 POU1F1 5449 HP:0003196 Short nose OMIM:613038 POU1F1 5449 HP:0000158 Macroglossia OMIM:613038 POU1F1 5449 HP:0011800 Midface retrusion OMIM:613038 POU1F1 5449 HP:0001252 Muscular hypotonia OMIM:613038 POU1F1 5449 HP:0000463 Anteverted nares OMIM:613038 POU1F1 5449 HP:0008850 Severe postnatal growth retardation OMIM:613038 POU1F1 5449 HP:0002007 Frontal bossing OMIM:613038 POU1F1 5449 HP:0000270 Delayed cranial suture closure OMIM:613038 POU1F1 5449 HP:0006579 Prolonged neonatal jaundice OMIM:613038 POU1F1 5449 HP:0000272 Malar flattening OMIM:613038 POU1F1 5449 HP:0000821 Hypothyroidism OMIM:613038 POU1F1 5449 HP:0000007 Autosomal recessive inheritance OMIM:613038 POU1F1 5449 HP:0001249 Intellectual disability OMIM:613038 POU1F1 5449 HP:0005280 Depressed nasal bridge OMIM:613038 POU1F1 5449 HP:0000006 Autosomal dominant inheritance OMIM:613038 POU1F1 5449 HP:0011220 Prominent forehead OMIM:608799 DPM1 8813 HP:0004855 Reduced protein S activity OMIM:608799 DPM1 8813 HP:0003642 Type I transferrin isoform profile OMIM:608799 DPM1 8813 HP:0002098 Respiratory distress OMIM:608799 DPM1 8813 HP:0012385 Camptodactyly OMIM:608799 DPM1 8813 HP:0001250 Seizures OMIM:608799 DPM1 8813 HP:0001508 Failure to thrive OMIM:608799 DPM1 8813 HP:0011344 Severe global developmental delay OMIM:608799 DPM1 8813 HP:0002910 Elevated hepatic transaminases OMIM:608799 DPM1 8813 HP:0004279 Short palm OMIM:608799 DPM1 8813 HP:0001009 Telangiectasia OMIM:608799 DPM1 8813 HP:0100704 Cortical visual impairment OMIM:608799 DPM1 8813 HP:0001252 Muscular hypotonia OMIM:608799 DPM1 8813 HP:0000486 Strabismus OMIM:608799 DPM1 8813 HP:0003560 Muscular dystrophy OMIM:608799 DPM1 8813 HP:0000007 Autosomal recessive inheritance OMIM:608799 DPM1 8813 HP:0002353 EEG abnormality OMIM:608799 DPM1 8813 HP:0002395 Lower limb hyperreflexia OMIM:608799 DPM1 8813 HP:0001643 Patent ductus arteriosus OMIM:608799 DPM1 8813 HP:0001251 Ataxia OMIM:608799 DPM1 8813 HP:0009824 Upper limb undergrowth OMIM:608799 DPM1 8813 HP:0006879 Pontocerebellar atrophy OMIM:608799 DPM1 8813 HP:0005543 Reduced protein C activity OMIM:608799 DPM1 8813 HP:0000252 Microcephaly OMIM:608799 DPM1 8813 HP:0003676 Progressive disorder OMIM:608799 DPM1 8813 HP:0005280 Depressed nasal bridge OMIM:608799 DPM1 8813 HP:0000494 Downslanted palpebral fissures OMIM:608799 DPM1 8813 HP:0002164 Nail dysplasia OMIM:608799 DPM1 8813 HP:0006380 Knee flexion contracture OMIM:608799 DPM1 8813 HP:0002705 High, narrow palate OMIM:608799 DPM1 8813 HP:0001337 Tremor OMIM:608799 DPM1 8813 HP:0100543 Cognitive impairment OMIM:608799 DPM1 8813 HP:0001976 Reduced antithrombin III activity OMIM:608799 DPM1 8813 HP:0005469 Flat occiput OMIM:608799 DPM1 8813 HP:0002240 Hepatomegaly OMIM:608799 DPM1 8813 HP:0001744 Splenomegaly OMIM:608799 DPM1 8813 HP:0003828 Variable expressivity OMIM:608799 DPM1 8813 HP:0000639 Nystagmus OMIM:608799 DPM1 8813 HP:0001028 Hemangioma OMIM:608799 DPM1 8813 HP:0000316 Hypertelorism OMIM:608799 DPM1 8813 HP:0000319 Smooth philtrum OMIM:608799 DPM1 8813 HP:0200055 Small hand OMIM:608799 DPM1 8813 HP:0000347 Micrognathia OMIM:608799 DPM1 8813 HP:0005484 Postnatal microcephaly OMIM:608799 DPM1 8813 HP:0000488 Retinopathy OMIM:608799 DPM1 8813 HP:0000648 Optic atrophy OMIM:608799 DPM1 8813 HP:0003593 Infantile onset OMIM:608799 DPM1 8813 HP:0000478 Abnormality of the eye OMIM:608799 DPM1 8813 HP:0003645 Prolonged partial thromboplastin time OMIM:608799 DPM1 8813 HP:0003236 Elevated serum creatine phosphokinase OMIM:608799 DPM1 8813 HP:0006466 Ankle contracture OMIM:173200 CARD14 79092 HP:0000982 Palmoplantar keratoderma OMIM:173200 CARD14 79092 HP:0200039 Pustule OMIM:173200 CARD14 79092 HP:0000964 Eczema OMIM:173200 CARD14 79092 HP:0000163 Abnormality of the oral cavity OMIM:173200 CARD14 79092 HP:0008064 Ichthyosis OMIM:173200 CARD14 79092 HP:0001231 Abnormality of the fingernails OMIM:173200 CARD14 79092 HP:0000989 Pruritus OMIM:173200 CARD14 79092 HP:0002664 Neoplasm OMIM:173200 CARD14 79092 HP:0007400 Irregular hyperpigmentation OMIM:173200 CARD14 79092 HP:0100725 Lichenification OMIM:173200 CARD14 79092 HP:0008392 Subungual hyperkeratosis OMIM:173200 CARD14 79092 HP:0000006 Autosomal dominant inheritance OMIM:602782 SLC29A3 55315 HP:0100727 Histiocytosis OMIM:602782 SLC29A3 55315 HP:0001631 Defect in the atrial septum OMIM:602782 SLC29A3 55315 HP:0002240 Hepatomegaly OMIM:602782 SLC29A3 55315 HP:0000407 Sensorineural hearing impairment OMIM:602782 SLC29A3 55315 HP:0000824 Growth hormone deficiency OMIM:602782 SLC29A3 55315 HP:0001945 Fever OMIM:602782 SLC29A3 55315 HP:0012385 Camptodactyly OMIM:602782 SLC29A3 55315 HP:0001744 Splenomegaly OMIM:602782 SLC29A3 55315 HP:0003812 Phenotypic variability OMIM:602782 SLC29A3 55315 HP:0001822 Hallux valgus OMIM:602782 SLC29A3 55315 HP:0001634 Mitral valve prolapse OMIM:602782 SLC29A3 55315 HP:0002987 Elbow flexion contracture OMIM:602782 SLC29A3 55315 HP:0000819 Diabetes mellitus OMIM:602782 SLC29A3 55315 HP:0000520 Proptosis OMIM:602782 SLC29A3 55315 HP:0000815 Hypergonadotropic hypogonadism OMIM:602782 SLC29A3 55315 HP:0005200 Retroperitoneal fibrosis OMIM:602782 SLC29A3 55315 HP:0001640 Cardiomegaly OMIM:602782 SLC29A3 55315 HP:0030084 Clinodactyly OMIM:602782 SLC29A3 55315 HP:0002716 Lymphadenopathy OMIM:602782 SLC29A3 55315 HP:0000007 Autosomal recessive inheritance OMIM:602782 SLC29A3 55315 HP:0004322 Short stature OMIM:602782 SLC29A3 55315 HP:0001629 Ventricular septal defect OMIM:602782 SLC29A3 55315 HP:0100534 Episcleritis OMIM:236200 CBS 875 HP:0002204 Pulmonary embolism OMIM:236200 CBS 875 HP:0000767 Pectus excavatum OMIM:236200 CBS 875 HP:0001166 Arachnodactyly OMIM:236200 CBS 875 HP:0001519 Disproportionate tall stature OMIM:236200 CBS 875 HP:0100543 Cognitive impairment OMIM:236200 CBS 875 HP:0002637 Cerebral ischemia OMIM:236200 CBS 875 HP:0001376 Limitation of joint mobility OMIM:236200 CBS 875 HP:0002239 Gastrointestinal hemorrhage OMIM:236200 CBS 875 HP:0001010 Hypopigmentation of the skin OMIM:236200 CBS 875 HP:0001250 Seizures OMIM:236200 CBS 875 HP:0002910 Elevated hepatic transaminases OMIM:236200 CBS 875 HP:0001933 Subcutaneous hemorrhage OMIM:236200 CBS 875 HP:0004420 Arterial thrombosis OMIM:236200 CBS 875 HP:0000218 High palate OMIM:236200 CBS 875 HP:0002808 Kyphosis OMIM:236200 CBS 875 HP:0001508 Failure to thrive OMIM:236200 CBS 875 HP:0000822 Hypertension OMIM:236200 CBS 875 HP:0001083 Ectopia lentis OMIM:236200 CBS 875 HP:0000678 Dental crowding OMIM:236200 CBS 875 HP:0004418 Thrombophlebitis OMIM:236200 CBS 875 HP:0002170 Intracranial hemorrhage OMIM:236200 CBS 875 HP:0002299 Brittle hair OMIM:236200 CBS 875 HP:0000518 Cataract OMIM:236200 CBS 875 HP:0000501 Glaucoma OMIM:236200 CBS 875 HP:0000965 Cutis marmorata OMIM:236200 CBS 875 HP:0001634 Mitral valve prolapse OMIM:236200 CBS 875 HP:0000023 Inguinal hernia OMIM:236200 CBS 875 HP:0000505 Visual impairment OMIM:236200 CBS 875 HP:0001297 Stroke OMIM:236200 CBS 875 HP:0004374 Hemiplegia/hemiparesis OMIM:236200 CBS 875 HP:0001907 Thromboembolism OMIM:236200 CBS 875 HP:0002040 Esophageal varix OMIM:236200 CBS 875 HP:0002156 Homocystinuria OMIM:236200 CBS 875 HP:0011362 Abnormal hair quantity OMIM:236200 CBS 875 HP:0002751 Kyphoscoliosis OMIM:236200 CBS 875 HP:0000174 Abnormality of the palate OMIM:236200 CBS 875 HP:0004349 Reduced bone mineral density OMIM:236200 CBS 875 HP:0001249 Intellectual disability OMIM:236200 CBS 875 HP:0007703 Abnormal retinal pigmentation OMIM:236200 CBS 875 HP:0004586 Biconcave vertebral bodies OMIM:236200 CBS 875 HP:0002857 Genu valgum OMIM:236200 CBS 875 HP:0000164 Abnormality of the teeth OMIM:236200 CBS 875 HP:0000545 Myopia OMIM:236200 CBS 875 HP:0000708 Behavioral abnormality OMIM:236200 CBS 875 HP:0002650 Scoliosis OMIM:236200 CBS 875 HP:0100790 Hernia OMIM:236200 CBS 875 HP:0040160 Generalized osteoporosis OMIM:236200 CBS 875 HP:0000007 Autosomal recessive inheritance OMIM:236200 CBS 875 HP:0100026 Arteriovenous malformation OMIM:236200 CBS 875 HP:0002039 Anorexia OMIM:236200 CBS 875 HP:0001025 Urticaria OMIM:236200 CBS 875 HP:0012075 Personality disorder OMIM:236200 CBS 875 HP:0002757 Recurrent fractures OMIM:236200 CBS 875 HP:0000768 Pectus carinatum OMIM:236200 CBS 875 HP:0001733 Pancreatitis OMIM:236200 CBS 875 HP:0000648 Optic atrophy OMIM:236200 CBS 875 HP:0001658 Myocardial infarction OMIM:236200 CBS 875 HP:0002240 Hepatomegaly OMIM:236200 CBS 875 HP:0001397 Hepatic steatosis OMIM:236200 CBS 875 HP:0000541 Retinal detachment OMIM:603786 PROM1 8842 HP:0012045 Retinal flecks OMIM:603786 PROM1 8842 HP:0007663 Decreased central vision OMIM:603786 PROM1 8842 HP:0000608 Macular degeneration OMIM:603786 PROM1 8842 HP:0000006 Autosomal dominant inheritance OMIM:251200 MCPH1 79648 HP:0000007 Autosomal recessive inheritance OMIM:251200 MCPH1 79648 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:251200 MCPH1 79648 HP:0000069 Abnormality of the ureter OMIM:251200 MCPH1 79648 HP:0000494 Downslanted palpebral fissures OMIM:251200 MCPH1 79648 HP:0001249 Intellectual disability OMIM:251200 MCPH1 79648 HP:0001250 Seizures OMIM:251200 MCPH1 79648 HP:0004322 Short stature OMIM:251200 MCPH1 79648 HP:0008678 Renal hypoplasia/aplasia OMIM:251200 MCPH1 79648 HP:0002119 Ventriculomegaly OMIM:251200 MCPH1 79648 HP:0001347 Hyperreflexia OMIM:251200 MCPH1 79648 HP:0003451 Increased rate of premature chromosome condensation OMIM:251200 MCPH1 79648 HP:0000252 Microcephaly OMIM:251200 MCPH1 79648 HP:0002472 Small cerebral cortex OMIM:251200 MCPH1 79648 HP:0100543 Cognitive impairment OMIM:251200 MCPH1 79648 HP:0000233 Thin vermilion border OMIM:251200 MCPH1 79648 HP:0003103 Abnormal cortical bone morphology OMIM:251200 MCPH1 79648 HP:0000340 Sloping forehead OMIM:138040 NR3C1 2908 HP:0000822 Hypertension OMIM:138040 NR3C1 2908 HP:0000006 Autosomal dominant inheritance OMIM:138040 NR3C1 2908 HP:0012030 Increased urinary cortisol level OMIM:138040 NR3C1 2908 HP:0001949 Hypokalemic alkalosis OMIM:162400 SPTLC1 10558 HP:0001761 Pes cavus OMIM:162400 SPTLC1 10558 HP:0000407 Sensorineural hearing impairment OMIM:162400 SPTLC1 10558 HP:0001868 Autoamputation (feet) OMIM:162400 SPTLC1 10558 HP:0007267 Chronic axonal neuropathy OMIM:162400 SPTLC1 10558 HP:0006984 Distal sensory loss of all modalities OMIM:162400 SPTLC1 10558 HP:0003202 Skeletal muscle atrophy OMIM:162400 SPTLC1 10558 HP:0002936 Distal sensory impairment OMIM:162400 SPTLC1 10558 HP:0001886 Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) OMIM:162400 SPTLC1 10558 HP:0002460 Distal muscle weakness OMIM:162400 SPTLC1 10558 HP:0000006 Autosomal dominant inheritance OMIM:162400 SPTLC1 10558 HP:0000951 Abnormality of the skin OMIM:162400 SPTLC1 10558 HP:0001265 Hyporeflexia OMIM:162400 SPTLC1 10558 HP:0001284 Areflexia OMIM:162400 SPTLC1 10558 HP:0002754 Osteomyelitis OMIM:162400 SPTLC1 10558 HP:0003448 Decreased sensory nerve conduction velocity OMIM:162400 SPTLC1 10558 HP:0003387 Decreased number of large peripheral myelinated nerve fibers OMIM:616266 NALCN 259232 HP:0002803 Congenital contracture OMIM:616266 NALCN 259232 HP:0006380 Knee flexion contracture OMIM:616266 NALCN 259232 HP:0000347 Micrognathia OMIM:616266 NALCN 259232 HP:0002000 Short columella OMIM:616266 NALCN 259232 HP:0001537 Umbilical hernia OMIM:616266 NALCN 259232 HP:0002650 Scoliosis OMIM:616266 NALCN 259232 HP:0002059 Cerebral atrophy OMIM:616266 NALCN 259232 HP:0001263 Global developmental delay OMIM:616266 NALCN 259232 HP:0000431 Wide nasal bridge OMIM:616266 NALCN 259232 HP:0000470 Short neck OMIM:616266 NALCN 259232 HP:0000750 Delayed speech and language development OMIM:616266 NALCN 259232 HP:0001181 Adducted thumb OMIM:616266 NALCN 259232 HP:0001252 Muscular hypotonia OMIM:616266 NALCN 259232 HP:0000293 Full cheeks OMIM:616266 NALCN 259232 HP:0000023 Inguinal hernia OMIM:616266 NALCN 259232 HP:0000205 Pursed lips OMIM:616266 NALCN 259232 HP:0012385 Camptodactyly OMIM:616266 NALCN 259232 HP:0002987 Elbow flexion contracture OMIM:616266 NALCN 259232 HP:0000343 Long philtrum OMIM:616266 NALCN 259232 HP:0001272 Cerebellar atrophy OMIM:616266 NALCN 259232 HP:0003273 Hip contracture OMIM:616266 NALCN 259232 HP:0002020 Gastroesophageal reflux OMIM:264700 CYP27B1 1594 HP:0002982 Tibial bowing OMIM:264700 CYP27B1 1594 HP:0001510 Growth delay OMIM:264700 CYP27B1 1594 HP:0003020 Enlargement of the wrists OMIM:264700 CYP27B1 1594 HP:0000867 Secondary hyperparathyroidism OMIM:264700 CYP27B1 1594 HP:0003155 Elevated alkaline phosphatase OMIM:264700 CYP27B1 1594 HP:0000893 Bulging of the costochondral junction OMIM:264700 CYP27B1 1594 HP:0004492 Widely patent fontanelles and sutures OMIM:264700 CYP27B1 1594 HP:0000007 Autosomal recessive inheritance OMIM:264700 CYP27B1 1594 HP:0002752 Sparse bone trabeculae OMIM:264700 CYP27B1 1594 HP:0003106 Subperiosteal erosions due to secondary hyperparathyroidism OMIM:264700 CYP27B1 1594 HP:0003025 Metaphyseal irregularity OMIM:264700 CYP27B1 1594 HP:0001508 Failure to thrive OMIM:264700 CYP27B1 1594 HP:0002757 Recurrent fractures OMIM:264700 CYP27B1 1594 HP:0002148 Hypophosphatemia OMIM:264700 CYP27B1 1594 HP:0009023 Abdominal wall muscle weakness OMIM:264700 CYP27B1 1594 HP:0005469 Flat occiput OMIM:264700 CYP27B1 1594 HP:0002980 Femoral bowing OMIM:264700 CYP27B1 1594 HP:0002653 Bone pain OMIM:264700 CYP27B1 1594 HP:0006297 Hypoplasia of dental enamel OMIM:264700 CYP27B1 1594 HP:0000684 Delayed eruption of teeth OMIM:264700 CYP27B1 1594 HP:0002007 Frontal bossing OMIM:264700 CYP27B1 1594 HP:0003165 Elevated circulating parathyroid hormone (PTH) level OMIM:264700 CYP27B1 1594 HP:0000886 Deformed rib cage OMIM:264700 CYP27B1 1594 HP:0002909 Generalized aminoaciduria OMIM:264700 CYP27B1 1594 HP:0002199 Hypocalcemic seizures OMIM:264700 CYP27B1 1594 HP:0002753 Thin bony cortex OMIM:264700 CYP27B1 1594 HP:0002748 Rickets OMIM:264700 CYP27B1 1594 HP:0000737 Irritability OMIM:264700 CYP27B1 1594 HP:0003698 Difficulty standing OMIM:264700 CYP27B1 1594 HP:0002355 Difficulty walking OMIM:264700 CYP27B1 1594 HP:0003013 Bulging epiphyses OMIM:264700 CYP27B1 1594 HP:0001538 Protuberant abdomen OMIM:264700 CYP27B1 1594 HP:0003029 Enlargement of the ankles OMIM:264700 CYP27B1 1594 HP:0000920 Enlargement of the costochondral junction OMIM:264700 CYP27B1 1594 HP:0001270 Motor delay OMIM:264700 CYP27B1 1594 HP:0001252 Muscular hypotonia OMIM:264700 CYP27B1 1594 HP:0002979 Bowing of the legs OMIM:264700 CYP27B1 1594 HP:0010502 Fibular bowing OMIM:264700 CYP27B1 1594 HP:0002663 Delayed epiphyseal ossification OMIM:611040 MFRP 83552 HP:0000518 Cataract OMIM:611040 MFRP 83552 HP:0000510 Retinitis pigmentosa OMIM:611040 MFRP 83552 HP:0000568 Microphthalmos OMIM:611040 MFRP 83552 HP:0001000 Abnormality of skin pigmentation OMIM:611040 MFRP 83552 HP:0011510 Drusen OMIM:611040 MFRP 83552 HP:0012152 Foveoschisis OMIM:611040 MFRP 83552 HP:0011505 Cystoid macular edema OMIM:611040 MFRP 83552 HP:0007737 Bony spicule pigmentary retinopathy OMIM:611040 MFRP 83552 HP:0000662 Night blindness OMIM:611040 MFRP 83552 HP:0008323 Abnormal rod and cone electroretinograms OMIM:611040 MFRP 83552 HP:0007698 Retinal pigment epithelial atrophy OMIM:611040 MFRP 83552 HP:0000613 Photophobia OMIM:611040 MFRP 83552 HP:0000505 Visual impairment OMIM:611040 MFRP 83552 HP:0012426 Optic disc drusen OMIM:611040 MFRP 83552 HP:0000540 Hypermetropia OMIM:611040 MFRP 83552 HP:0000493 Abnormality of the fovea OMIM:611040 MFRP 83552 HP:0000007 Autosomal recessive inheritance OMIM:611040 MFRP 83552 HP:0000591 Abnormality of the sclera OMIM:231300 CYP1B1 1545 HP:0000007 Autosomal recessive inheritance OMIM:231300 CYP1B1 1545 HP:0000557 Buphthalmos OMIM:231300 CYP1B1 1545 HP:0001425 Heterogeneous OMIM:231300 CYP1B1 1545 HP:0008041 Late onset congenital glaucoma OMIM:231300 CYP1B1 1545 HP:0007906 Increased intraocular pressure OMIM:614565 GPR179 440435 HP:0000639 Nystagmus OMIM:614565 GPR179 440435 HP:0007642 Congenital stationary night blindness OMIM:614565 GPR179 440435 HP:0000007 Autosomal recessive inheritance OMIM:614565 GPR179 440435 HP:0000505 Visual impairment OMIM:614565 GPR179 440435 HP:0001419 X-linked recessive inheritance OMIM:614565 GPR179 440435 HP:0000486 Strabismus OMIM:240600 GYS2 2998 HP:0001998 Neonatal hypoglycemia OMIM:240600 GYS2 2998 HP:0003162 Fasting hypoglycemia OMIM:240600 GYS2 2998 HP:0011998 Postprandial hyperglycemia OMIM:240600 GYS2 2998 HP:0001946 Ketosis OMIM:240600 GYS2 2998 HP:0002151 Increased serum lactate OMIM:240600 GYS2 2998 HP:0001250 Seizures OMIM:240600 GYS2 2998 HP:0000007 Autosomal recessive inheritance OMIM:272800 HEXA 3073 HP:0010729 Cherry red spot of the macula OMIM:272800 HEXA 3073 HP:0000365 Hearing impairment OMIM:272800 HEXA 3073 HP:0000726 Dementia OMIM:272800 HEXA 3073 HP:0002240 Hepatomegaly OMIM:272800 HEXA 3073 HP:0002421 Poor head control OMIM:272800 HEXA 3073 HP:0001252 Muscular hypotonia OMIM:272800 HEXA 3073 HP:0001250 Seizures OMIM:272800 HEXA 3073 HP:0002353 EEG abnormality OMIM:272800 HEXA 3073 HP:0001347 Hyperreflexia OMIM:272800 HEXA 3073 HP:0003593 Infantile onset OMIM:272800 HEXA 3073 HP:0000648 Optic atrophy OMIM:272800 HEXA 3073 HP:0000741 Apathy OMIM:272800 HEXA 3073 HP:0003495 GM2-ganglioside accumulation OMIM:272800 HEXA 3073 HP:0004374 Hemiplegia/hemiparesis OMIM:272800 HEXA 3073 HP:0002311 Incoordination OMIM:272800 HEXA 3073 HP:0000618 Blindness OMIM:272800 HEXA 3073 HP:0002205 Recurrent respiratory infections OMIM:272800 HEXA 3073 HP:0002267 Exaggerated startle response OMIM:272800 HEXA 3073 HP:0002376 Developmental regression OMIM:272800 HEXA 3073 HP:0000256 Macrocephaly OMIM:272800 HEXA 3073 HP:0001744 Splenomegaly OMIM:272800 HEXA 3073 HP:0001276 Hypertonia OMIM:272800 HEXA 3073 HP:0002361 Psychomotor deterioration OMIM:272800 HEXA 3073 HP:0002486 Myotonia OMIM:272800 HEXA 3073 HP:0100022 Abnormality of movement OMIM:272800 HEXA 3073 HP:0002835 Aspiration OMIM:272800 HEXA 3073 HP:0000007 Autosomal recessive inheritance OMIM:607115 NLRP3 114548 HP:0002007 Frontal bossing OMIM:607115 NLRP3 114548 HP:0004370 Abnormality of temperature regulation OMIM:607115 NLRP3 114548 HP:0001287 Meningitis OMIM:607115 NLRP3 114548 HP:0002652 Skeletal dysplasia OMIM:607115 NLRP3 114548 HP:0001903 Anemia OMIM:607115 NLRP3 114548 HP:0001369 Arthritis OMIM:607115 NLRP3 114548 HP:0001874 Abnormality of neutrophils OMIM:607115 NLRP3 114548 HP:0000969 Edema OMIM:607115 NLRP3 114548 HP:0001376 Limitation of joint mobility OMIM:607115 NLRP3 114548 HP:0100654 Retrobulbar optic neuritis OMIM:607115 NLRP3 114548 HP:0100533 Inflammatory abnormality of the eye OMIM:607115 NLRP3 114548 HP:0002829 Arthralgia OMIM:607115 NLRP3 114548 HP:0000520 Proptosis OMIM:607115 NLRP3 114548 HP:0003326 Myalgia OMIM:607115 NLRP3 114548 HP:0001744 Splenomegaly OMIM:607115 NLRP3 114548 HP:0000407 Sensorineural hearing impairment OMIM:607115 NLRP3 114548 HP:0002516 Increased intracranial pressure OMIM:607115 NLRP3 114548 HP:0100543 Cognitive impairment OMIM:607115 NLRP3 114548 HP:0001025 Urticaria OMIM:607115 NLRP3 114548 HP:0001933 Subcutaneous hemorrhage OMIM:607115 NLRP3 114548 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:607115 NLRP3 114548 HP:0000505 Visual impairment OMIM:607115 NLRP3 114548 HP:0002017 Nausea and vomiting OMIM:607115 NLRP3 114548 HP:0000256 Macrocephaly OMIM:607115 NLRP3 114548 HP:0001622 Premature birth OMIM:607115 NLRP3 114548 HP:0001156 Brachydactyly syndrome OMIM:607115 NLRP3 114548 HP:0002240 Hepatomegaly OMIM:607115 NLRP3 114548 HP:0001974 Leukocytosis OMIM:607115 NLRP3 114548 HP:0002716 Lymphadenopathy OMIM:607115 NLRP3 114548 HP:0001872 Abnormality of thrombocytes OMIM:607115 NLRP3 114548 HP:0004349 Reduced bone mineral density OMIM:607115 NLRP3 114548 HP:0000163 Abnormality of the oral cavity OMIM:607115 NLRP3 114548 HP:0001271 Polyneuropathy OMIM:607115 NLRP3 114548 HP:0002076 Migraine OMIM:607115 NLRP3 114548 HP:0000648 Optic atrophy OMIM:613390 RAD51C 5889 HP:0003774 Stage 5 chronic kidney disease OMIM:613390 RAD51C 5889 HP:0000126 Hydronephrosis OMIM:613390 RAD51C 5889 HP:0000007 Autosomal recessive inheritance OMIM:613390 RAD51C 5889 HP:0004322 Short stature OMIM:613390 RAD51C 5889 HP:0003241 External genital hypoplasia OMIM:613390 RAD51C 5889 HP:0000107 Renal cyst OMIM:613390 RAD51C 5889 HP:0002564 Malformation of the heart and great vessels OMIM:613390 RAD51C 5889 HP:0009778 Short thumb OMIM:613390 RAD51C 5889 HP:0002023 Anal atresia OMIM:613390 RAD51C 5889 HP:0009777 Absent thumb OMIM:613390 RAD51C 5889 HP:0000028 Cryptorchidism OMIM:613390 RAD51C 5889 HP:0002984 Hypoplasia of the radius OMIM:245800 PNPLA6 10908 HP:0000286 Epicanthus OMIM:245800 PNPLA6 10908 HP:0001161 Hand polydactyly OMIM:245800 PNPLA6 10908 HP:0004322 Short stature OMIM:245800 PNPLA6 10908 HP:0001513 Obesity OMIM:245800 PNPLA6 10908 HP:0002612 Congenital hepatic fibrosis OMIM:245800 PNPLA6 10908 HP:0004374 Hemiplegia/hemiparesis OMIM:245800 PNPLA6 10908 HP:0009896 Abnormality of the antitragus OMIM:245800 PNPLA6 10908 HP:0001156 Brachydactyly syndrome OMIM:245800 PNPLA6 10908 HP:0001251 Ataxia OMIM:245800 PNPLA6 10908 HP:0005978 Type II diabetes mellitus OMIM:245800 PNPLA6 10908 HP:0002648 Abnormality of calvarial morphology OMIM:245800 PNPLA6 10908 HP:0000954 Single transverse palmar crease OMIM:245800 PNPLA6 10908 HP:0000007 Autosomal recessive inheritance OMIM:245800 PNPLA6 10908 HP:0001155 Abnormality of the hand OMIM:245800 PNPLA6 10908 HP:0000518 Cataract OMIM:245800 PNPLA6 10908 HP:0006101 Finger syndactyly OMIM:245800 PNPLA6 10908 HP:0000368 Low-set, posteriorly rotated ears OMIM:245800 PNPLA6 10908 HP:0001258 Spastic paraplegia OMIM:245800 PNPLA6 10908 HP:0002564 Malformation of the heart and great vessels OMIM:245800 PNPLA6 10908 HP:0000639 Nystagmus OMIM:245800 PNPLA6 10908 HP:0002311 Incoordination OMIM:245800 PNPLA6 10908 HP:0008736 Hypoplasia of penis OMIM:245800 PNPLA6 10908 HP:0000486 Strabismus OMIM:245800 PNPLA6 10908 HP:0001249 Intellectual disability OMIM:245800 PNPLA6 10908 HP:0000083 Renal insufficiency OMIM:245800 PNPLA6 10908 HP:0000612 Iris coloboma OMIM:245800 PNPLA6 10908 HP:0000028 Cryptorchidism OMIM:245800 PNPLA6 10908 HP:0000046 Scrotal hypoplasia OMIM:245800 PNPLA6 10908 HP:0000054 Micropenis OMIM:245800 PNPLA6 10908 HP:0000580 Pigmentary retinopathy OMIM:245800 PNPLA6 10908 HP:0000407 Sensorineural hearing impairment OMIM:245800 PNPLA6 10908 HP:0100543 Cognitive impairment OMIM:245800 PNPLA6 10908 HP:0100627 Displacement of the external urethral meatus OMIM:245590 STAT5B 6777 HP:0002880 Respiratory difficulties OMIM:245590 STAT5B 6777 HP:0000824 Growth hormone deficiency OMIM:245590 STAT5B 6777 HP:0003510 Severe short stature OMIM:604360 SPG11 80208 HP:0011449 Knee clonus OMIM:604360 SPG11 80208 HP:0002167 Neurological speech impairment OMIM:604360 SPG11 80208 HP:0030051 Tip-toe gait OMIM:604360 SPG11 80208 HP:0001274 Agenesis of corpus callosum OMIM:604360 SPG11 80208 HP:0001761 Pes cavus OMIM:604360 SPG11 80208 HP:0001250 Seizures OMIM:604360 SPG11 80208 HP:0000546 Retinal degeneration OMIM:604360 SPG11 80208 HP:0001251 Ataxia OMIM:604360 SPG11 80208 HP:0007067 Distal peripheral sensory neuropathy OMIM:604360 SPG11 80208 HP:0003581 Adult onset OMIM:604360 SPG11 80208 HP:0002314 Degeneration of the lateral corticospinal tracts OMIM:604360 SPG11 80208 HP:0001249 Intellectual disability OMIM:604360 SPG11 80208 HP:0002518 Abnormality of the periventricular white matter OMIM:604360 SPG11 80208 HP:0007178 Motor polyneuropathy OMIM:604360 SPG11 80208 HP:0001347 Hyperreflexia OMIM:604360 SPG11 80208 HP:0002311 Incoordination OMIM:604360 SPG11 80208 HP:0002079 Hypoplasia of the corpus callosum OMIM:604360 SPG11 80208 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:604360 SPG11 80208 HP:0001328 Specific learning disability OMIM:604360 SPG11 80208 HP:0000608 Macular degeneration OMIM:604360 SPG11 80208 HP:0000007 Autosomal recessive inheritance OMIM:604360 SPG11 80208 HP:0002166 Impaired vibration sensation in the lower limbs OMIM:604360 SPG11 80208 HP:0001268 Mental deterioration OMIM:604360 SPG11 80208 HP:0001288 Gait disturbance OMIM:604360 SPG11 80208 HP:0002119 Ventriculomegaly OMIM:604360 SPG11 80208 HP:0001258 Spastic paraplegia OMIM:604360 SPG11 80208 HP:0007340 Lower limb muscle weakness OMIM:604360 SPG11 80208 HP:0002064 Spastic gait OMIM:604360 SPG11 80208 HP:0003393 Thenar muscle atrophy OMIM:604360 SPG11 80208 HP:0002015 Dysphagia OMIM:604360 SPG11 80208 HP:0000020 Urinary incontinence OMIM:604360 SPG11 80208 HP:0003676 Progressive disorder OMIM:604360 SPG11 80208 HP:0002120 Cerebral cortical atrophy OMIM:604360 SPG11 80208 HP:0011463 Childhood onset OMIM:604360 SPG11 80208 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:604360 SPG11 80208 HP:0001513 Obesity OMIM:604360 SPG11 80208 HP:0000763 Sensory neuropathy OMIM:604360 SPG11 80208 HP:0000640 Gaze-evoked nystagmus OMIM:604360 SPG11 80208 HP:0000012 Urinary urgency OMIM:604360 SPG11 80208 HP:0011448 Ankle clonus OMIM:604360 SPG11 80208 HP:0002061 Lower limb spasticity OMIM:604360 SPG11 80208 HP:0000505 Visual impairment OMIM:604360 SPG11 80208 HP:0003487 Babinski sign OMIM:604360 SPG11 80208 HP:0001315 Reduced tendon reflexes OMIM:604360 SPG11 80208 HP:0001260 Dysarthria OMIM:604360 SPG11 80208 HP:0002839 Urinary bladder sphincter dysfunction OMIM:609813 LFNG 3955 HP:0003422 Vertebral segmentation defect OMIM:609813 LFNG 3955 HP:0001238 Slender finger OMIM:609813 LFNG 3955 HP:0002650 Scoliosis OMIM:609813 LFNG 3955 HP:0000007 Autosomal recessive inheritance OMIM:609813 LFNG 3955 HP:0004598 Supernumerary vertebral ossification centers OMIM:614815 TCTN3 26123 HP:0001249 Intellectual disability OMIM:614815 TCTN3 26123 HP:0010442 Polydactyly OMIM:614815 TCTN3 26123 HP:0002751 Kyphoscoliosis OMIM:614815 TCTN3 26123 HP:0001629 Ventricular septal defect OMIM:614815 TCTN3 26123 HP:0002419 Molar tooth sign on MRI OMIM:614815 TCTN3 26123 HP:0012385 Camptodactyly OMIM:614815 TCTN3 26123 HP:0001511 Intrauterine growth retardation OMIM:614815 TCTN3 26123 HP:0000007 Autosomal recessive inheritance OMIM:614815 TCTN3 26123 HP:0001388 Joint laxity OMIM:614815 TCTN3 26123 HP:0000085 Horseshoe kidney OMIM:614815 TCTN3 26123 HP:0000496 Abnormality of eye movement OMIM:614815 TCTN3 26123 HP:0003812 Phenotypic variability OMIM:274270 DPYD 1806 HP:0000568 Microphthalmos OMIM:274270 DPYD 1806 HP:0001270 Motor delay OMIM:274270 DPYD 1806 HP:0001249 Intellectual disability OMIM:274270 DPYD 1806 HP:0001508 Failure to thrive OMIM:274270 DPYD 1806 HP:0001274 Agenesis of corpus callosum OMIM:274270 DPYD 1806 HP:0002445 Tetraplegia OMIM:274270 DPYD 1806 HP:0003812 Phenotypic variability OMIM:274270 DPYD 1806 HP:0000750 Delayed speech and language development OMIM:274270 DPYD 1806 HP:0001254 Lethargy OMIM:274270 DPYD 1806 HP:0000639 Nystagmus OMIM:274270 DPYD 1806 HP:0002059 Cerebral atrophy OMIM:274270 DPYD 1806 HP:0000717 Autism OMIM:274270 DPYD 1806 HP:0000752 Hyperactivity OMIM:274270 DPYD 1806 HP:0000648 Optic atrophy OMIM:274270 DPYD 1806 HP:0000007 Autosomal recessive inheritance OMIM:274270 DPYD 1806 HP:0003654 Reduced dihydropyrimidine dehydrogenase activity OMIM:274270 DPYD 1806 HP:0001252 Muscular hypotonia OMIM:274270 DPYD 1806 HP:0000252 Microcephaly OMIM:274270 DPYD 1806 HP:0001276 Hypertonia OMIM:274270 DPYD 1806 HP:0001510 Growth delay OMIM:274270 DPYD 1806 HP:0001250 Seizures OMIM:274270 DPYD 1806 HP:0000589 Coloboma OMIM:615745 NPPA 4878 HP:0001662 Bradycardia OMIM:615745 NPPA 4878 HP:0001638 Cardiomyopathy OMIM:156510 RUNX2 860 HP:0000233 Thin vermilion border OMIM:156510 RUNX2 860 HP:0002120 Cerebral cortical atrophy OMIM:156510 RUNX2 860 HP:0003015 Flared metaphysis OMIM:156510 RUNX2 860 HP:0000327 Hypoplasia of the maxilla OMIM:156510 RUNX2 860 HP:0000322 Short philtrum OMIM:156510 RUNX2 860 HP:0000444 Convex nasal ridge OMIM:156510 RUNX2 860 HP:0004322 Short stature OMIM:156510 RUNX2 860 HP:0005877 Multiple small vertebral fractures OMIM:156510 RUNX2 860 HP:0000926 Platyspondyly OMIM:156510 RUNX2 860 HP:0004349 Reduced bone mineral density OMIM:156510 RUNX2 860 HP:0010047 Short 5th metacarpal OMIM:156510 RUNX2 860 HP:0100255 Metaphyseal dysplasia OMIM:156510 RUNX2 860 HP:0009577 Short middle phalanx of the 2nd finger OMIM:156510 RUNX2 860 HP:0003063 Abnormality of the humerus OMIM:156510 RUNX2 860 HP:0000347 Micrognathia OMIM:156510 RUNX2 860 HP:0100490 Camptodactyly of finger OMIM:156510 RUNX2 860 HP:0004220 Short middle phalanx of the 5th finger OMIM:156510 RUNX2 860 HP:0005625 Osteoporosis of vertebrae OMIM:156510 RUNX2 860 HP:0000006 Autosomal dominant inheritance OMIM:156510 RUNX2 860 HP:0011073 Abnormality of dental color OMIM:156510 RUNX2 860 HP:0004493 Craniofacial hyperostosis OMIM:156510 RUNX2 860 HP:0006480 Premature loss of teeth OMIM:156510 RUNX2 860 HP:0003312 Abnormal form of the vertebral bodies OMIM:156510 RUNX2 860 HP:0001156 Brachydactyly syndrome OMIM:156510 RUNX2 860 HP:0002757 Recurrent fractures OMIM:156510 RUNX2 860 HP:0002823 Abnormality of the femur OMIM:177000 FECH 2235 HP:0011463 Childhood onset OMIM:177000 FECH 2235 HP:0002155 Hypertriglyceridemia OMIM:177000 FECH 2235 HP:0000964 Eczema OMIM:177000 FECH 2235 HP:0001081 Cholelithiasis OMIM:177000 FECH 2235 HP:0001399 Hepatic failure OMIM:177000 FECH 2235 HP:0010783 Erythema OMIM:177000 FECH 2235 HP:0000006 Autosomal dominant inheritance OMIM:177000 FECH 2235 HP:0000989 Pruritus OMIM:177000 FECH 2235 HP:0000969 Edema OMIM:177000 FECH 2235 HP:0001878 Hemolytic anemia OMIM:177000 FECH 2235 HP:0000007 Autosomal recessive inheritance OMIM:608594 AGPAT2 10555 HP:0005616 Accelerated skeletal maturation OMIM:608594 AGPAT2 10555 HP:0000098 Tall stature OMIM:608594 AGPAT2 10555 HP:0000956 Acanthosis nigricans OMIM:608594 AGPAT2 10555 HP:0001744 Splenomegaly OMIM:608594 AGPAT2 10555 HP:0001176 Large hands OMIM:608594 AGPAT2 10555 HP:0003716 Generalized muscular appearance from birth OMIM:608594 AGPAT2 10555 HP:0000868 Decreased fertility in females OMIM:608594 AGPAT2 10555 HP:0001394 Cirrhosis OMIM:608594 AGPAT2 10555 HP:0001735 Acute pancreatitis OMIM:608594 AGPAT2 10555 HP:0002591 Polyphagia OMIM:608594 AGPAT2 10555 HP:0009125 Lipodystrophy OMIM:608594 AGPAT2 10555 HP:0000065 Labial hypertrophy OMIM:608594 AGPAT2 10555 HP:0003809 Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) OMIM:608594 AGPAT2 10555 HP:0000877 Insulin-resistant diabetes mellitus at puberty OMIM:608594 AGPAT2 10555 HP:0001537 Umbilical hernia OMIM:608594 AGPAT2 10555 HP:0002240 Hepatomegaly OMIM:608594 AGPAT2 10555 HP:0000842 Hyperinsulinemia OMIM:608594 AGPAT2 10555 HP:0003292 Decreased serum leptin OMIM:608594 AGPAT2 10555 HP:0000007 Autosomal recessive inheritance OMIM:608594 AGPAT2 10555 HP:0002833 Cystic angiomatosis of bone OMIM:608594 AGPAT2 10555 HP:0002155 Hypertriglyceridemia OMIM:608594 AGPAT2 10555 HP:0000147 Polycystic ovaries OMIM:608594 AGPAT2 10555 HP:0000303 Mandibular prognathia OMIM:608594 AGPAT2 10555 HP:0001007 Hirsutism OMIM:608594 AGPAT2 10555 HP:0001544 Prominent umbilicus OMIM:608594 AGPAT2 10555 HP:0001833 Long foot OMIM:608594 AGPAT2 10555 HP:0001397 Hepatic steatosis OMIM:608594 AGPAT2 10555 HP:0000057 Clitoromegaly OMIM:185000 STOM 2040 HP:0001878 Hemolytic anemia OMIM:185000 STOM 2040 HP:0000006 Autosomal dominant inheritance OMIM:185000 STOM 2040 HP:0005502 Increased red cell osmotic fragility OMIM:185000 STOM 2040 HP:0004446 Stomatocytosis OMIM:185000 STOM 2040 HP:0003575 Increased intracellular sodium OMIM:612444 DNAI2 64446 HP:0003251 Male infertility OMIM:612444 DNAI2 64446 HP:0000403 Recurrent otitis media OMIM:612444 DNAI2 64446 HP:0012265 Ciliary dyskinesia OMIM:612444 DNAI2 64446 HP:0001696 Situs inversus totalis OMIM:612444 DNAI2 64446 HP:0000007 Autosomal recessive inheritance OMIM:612444 DNAI2 64446 HP:0011108 Recurrent sinusitis OMIM:612444 DNAI2 64446 HP:0002257 Chronic rhinitis OMIM:612444 DNAI2 64446 HP:0002110 Bronchiectasis OMIM:615008 DGKE 8526 HP:0000007 Autosomal recessive inheritance OMIM:615008 DGKE 8526 HP:0001873 Thrombocytopenia OMIM:615008 DGKE 8526 HP:0005575 Hemolytic-uremic syndrome OMIM:615008 DGKE 8526 HP:0000100 Nephrotic syndrome OMIM:615008 DGKE 8526 HP:0004722 Thickening of the glomerular basement membrane OMIM:615008 DGKE 8526 HP:0001878 Hemolytic anemia OMIM:615008 DGKE 8526 HP:0003676 Progressive disorder OMIM:615008 DGKE 8526 HP:0001919 Acute kidney injury OMIM:615008 DGKE 8526 HP:0000093 Proteinuria OMIM:615008 DGKE 8526 HP:0003774 Stage 5 chronic kidney disease OMIM:234050 MPLKIP 136647 HP:0001792 Small nail OMIM:234050 MPLKIP 136647 HP:0001338 Partial agenesis of the corpus callosum OMIM:234050 MPLKIP 136647 HP:0000252 Microcephaly OMIM:234050 MPLKIP 136647 HP:0000286 Epicanthus OMIM:234050 MPLKIP 136647 HP:0000639 Nystagmus OMIM:234050 MPLKIP 136647 HP:0003196 Short nose OMIM:234050 MPLKIP 136647 HP:0000400 Macrotia OMIM:234050 MPLKIP 136647 HP:0000463 Anteverted nares OMIM:234050 MPLKIP 136647 HP:0006829 Severe muscular hypotonia OMIM:234050 MPLKIP 136647 HP:0000144 Decreased fertility OMIM:234050 MPLKIP 136647 HP:0001249 Intellectual disability OMIM:234050 MPLKIP 136647 HP:0002299 Brittle hair OMIM:234050 MPLKIP 136647 HP:0000648 Optic atrophy OMIM:234050 MPLKIP 136647 HP:0001598 Concave nail OMIM:234050 MPLKIP 136647 HP:0009886 Trichorrhexis nodosa OMIM:234050 MPLKIP 136647 HP:0001629 Ventricular septal defect OMIM:234050 MPLKIP 136647 HP:0000007 Autosomal recessive inheritance OMIM:234050 MPLKIP 136647 HP:0001510 Growth delay OMIM:234050 MPLKIP 136647 HP:0001263 Global developmental delay OMIM:234050 MPLKIP 136647 HP:0002120 Cerebral cortical atrophy OMIM:234050 MPLKIP 136647 HP:0000685 Hypoplasia of teeth OMIM:234050 MPLKIP 136647 HP:0008070 Sparse hair OMIM:603903 HBB 3043 HP:0200023 Priapism OMIM:603903 HBB 3043 HP:0001640 Cardiomegaly OMIM:603903 HBB 3043 HP:0002240 Hepatomegaly OMIM:603903 HBB 3043 HP:0001878 Hemolytic anemia OMIM:603903 HBB 3043 HP:0000952 Jaundice OMIM:603903 HBB 3043 HP:0000488 Retinopathy OMIM:603903 HBB 3043 HP:0000007 Autosomal recessive inheritance OMIM:603903 HBB 3043 HP:0001081 Cholelithiasis OMIM:603903 HBB 3043 HP:0008346 Increased red cell sickling tendency OMIM:603903 HBB 3043 HP:0001744 Splenomegaly OMIM:603903 HBB 3043 HP:0000790 Hematuria OMIM:126150 HBEGF 1839 HP:0001939 Abnormality of metabolism/homeostasis OMIM:126150 HBEGF 1839 HP:0000006 Autosomal dominant inheritance OMIM:606068 FAM161A 84140 HP:0000007 Autosomal recessive inheritance OMIM:606068 FAM161A 84140 HP:0000543 Optic disc pallor OMIM:606068 FAM161A 84140 HP:0000662 Night blindness OMIM:606068 FAM161A 84140 HP:0007737 Bony spicule pigmentary retinopathy OMIM:606068 FAM161A 84140 HP:0001133 Constricted visual fields OMIM:606068 FAM161A 84140 HP:0000510 Retinitis pigmentosa OMIM:613825 C9 735 HP:0012308 Decreased serum complement C9 OMIM:615224 CSNK1D 1453 HP:0000006 Autosomal dominant inheritance OMIM:614200 ITGA2 3673 HP:0000978 Bruising susceptibility OMIM:614200 ITGA2 3673 HP:0001873 Thrombocytopenia OMIM:614200 ITGA2 3673 HP:0003577 Congenital onset OMIM:614200 ITGA2 3673 HP:0000006 Autosomal dominant inheritance OMIM:186500 NOG 9241 HP:0000215 Thick upper lip vermilion OMIM:186500 NOG 9241 HP:0000219 Thin upper lip vermilion OMIM:186500 NOG 9241 HP:0005807 Absent distal phalanges OMIM:186500 NOG 9241 HP:0000920 Enlargement of the costochondral junction OMIM:186500 NOG 9241 HP:0003083 Dislocated radial head OMIM:186500 NOG 9241 HP:0008607 Progressive conductive hearing impairment OMIM:186500 NOG 9241 HP:0008460 Hypoplastic spinal processes OMIM:186500 NOG 9241 HP:0004691 2-3 toe syndactyly OMIM:186500 NOG 9241 HP:0000767 Pectus excavatum OMIM:186500 NOG 9241 HP:0001032 Absent distal interphalangeal creases OMIM:186500 NOG 9241 HP:0002515 Waddling gait OMIM:186500 NOG 9241 HP:0000430 Underdeveloped nasal alae OMIM:186500 NOG 9241 HP:0001798 Anonychia OMIM:186500 NOG 9241 HP:0006187 Fusion of midphalangeal joints OMIM:186500 NOG 9241 HP:0008368 Tarsal synostosis OMIM:186500 NOG 9241 HP:0030084 Clinodactyly OMIM:186500 NOG 9241 HP:0009466 Radial deviation of finger OMIM:186500 NOG 9241 HP:0000954 Single transverse palmar crease OMIM:186500 NOG 9241 HP:0002967 Cubitus valgus OMIM:186500 NOG 9241 HP:0006385 Short lower limbs OMIM:186500 NOG 9241 HP:0009702 Carpal synostosis OMIM:186500 NOG 9241 HP:0000006 Autosomal dominant inheritance OMIM:186500 NOG 9241 HP:0005104 Hypoplastic nasal septum OMIM:186500 NOG 9241 HP:0009843 Aplasia/Hypoplasia of the middle phalanges of the hand OMIM:186500 NOG 9241 HP:0000381 Stapes ankylosis OMIM:186500 NOG 9241 HP:0010554 Cutaneous finger syndactyly OMIM:186500 NOG 9241 HP:0001773 Short foot OMIM:186500 NOG 9241 HP:0000275 Narrow face OMIM:186500 NOG 9241 HP:0009816 Lower limb undergrowth OMIM:186500 NOG 9241 HP:0010624 Aplastic/hypoplastic toenail OMIM:186500 NOG 9241 HP:0000486 Strabismus OMIM:186500 NOG 9241 HP:0010109 Short hallux OMIM:186500 NOG 9241 HP:0006152 Proximal symphalangism (hands) OMIM:186500 NOG 9241 HP:0000322 Short philtrum OMIM:186500 NOG 9241 HP:0003468 Abnormality of the vertebrae OMIM:186500 NOG 9241 HP:0003416 Spinal canal stenosis OMIM:186500 NOG 9241 HP:0001156 Brachydactyly syndrome OMIM:186500 NOG 9241 HP:0005792 Short humerus OMIM:186500 NOG 9241 HP:0000879 Short sternum OMIM:249420 SH3PXD2B 285590 HP:0000689 Dental malocclusion OMIM:249420 SH3PXD2B 285590 HP:0002564 Malformation of the heart and great vessels OMIM:249420 SH3PXD2B 285590 HP:0000316 Hypertelorism OMIM:249420 SH3PXD2B 285590 HP:0001090 Large eyes OMIM:249420 SH3PXD2B 285590 HP:0000520 Proptosis OMIM:249420 SH3PXD2B 285590 HP:0005731 Cortical irregularity OMIM:249420 SH3PXD2B 285590 HP:0004611 Anterior concavity of thoracic vertebrae OMIM:249420 SH3PXD2B 285590 HP:0000270 Delayed cranial suture closure OMIM:249420 SH3PXD2B 285590 HP:0000293 Full cheeks OMIM:249420 SH3PXD2B 285590 HP:0006487 Bowing of the long bones OMIM:249420 SH3PXD2B 285590 HP:0000347 Micrognathia OMIM:249420 SH3PXD2B 285590 HP:0000501 Glaucoma OMIM:249420 SH3PXD2B 285590 HP:0003015 Flared metaphysis OMIM:249420 SH3PXD2B 285590 HP:0003026 Short long bone OMIM:614880 HS6ST1 9394 HP:0012506 Small pituitary gland OMIM:614880 HS6ST1 9394 HP:0000786 Primary amenorrhea OMIM:614880 HS6ST1 9394 HP:0000175 Cleft palate OMIM:614880 HS6ST1 9394 HP:0000028 Cryptorchidism OMIM:614880 HS6ST1 9394 HP:0008734 Decreased testicular size OMIM:614880 HS6ST1 9394 HP:0000054 Micropenis OMIM:614880 HS6ST1 9394 HP:0000006 Autosomal dominant inheritance OMIM:614429 GATA4 2626 HP:0001642 Pulmonic stenosis OMIM:614429 GATA4 2626 HP:0001629 Ventricular septal defect OMIM:614429 GATA4 2626 HP:0001631 Defect in the atrial septum OMIM:614429 GATA4 2626 HP:0000006 Autosomal dominant inheritance OMIM:612079 RBM28 55131 HP:0000668 Hypodontia OMIM:612079 RBM28 55131 HP:0000670 Carious teeth OMIM:612079 RBM28 55131 HP:0000823 Delayed puberty OMIM:612079 RBM28 55131 HP:0002751 Kyphoscoliosis OMIM:612079 RBM28 55131 HP:0000007 Autosomal recessive inheritance OMIM:612079 RBM28 55131 HP:0002493 Upper motor neuron dysfunction OMIM:612079 RBM28 55131 HP:0002333 Motor deterioration OMIM:612079 RBM28 55131 HP:0001193 Ulnar deviation of the hand or of fingers of the hand OMIM:612079 RBM28 55131 HP:0000135 Hypogonadism OMIM:612079 RBM28 55131 HP:0003202 Skeletal muscle atrophy OMIM:612079 RBM28 55131 HP:0000771 Gynecomastia OMIM:612079 RBM28 55131 HP:0000953 Hyperpigmentation of the skin OMIM:612079 RBM28 55131 HP:0001002 Decreased subcutaneous fat OMIM:612079 RBM28 55131 HP:0000252 Microcephaly OMIM:612079 RBM28 55131 HP:0001249 Intellectual disability OMIM:612079 RBM28 55131 HP:0000995 Melanocytic nevus OMIM:612079 RBM28 55131 HP:0011734 Central adrenal insufficiency OMIM:612079 RBM28 55131 HP:0001596 Alopecia OMIM:612079 RBM28 55131 HP:0001371 Flexion contracture OMIM:600151 ARL6 84100 HP:0010442 Polydactyly OMIM:600151 ARL6 84100 HP:0001156 Brachydactyly syndrome OMIM:600151 ARL6 84100 HP:0001263 Global developmental delay OMIM:600151 ARL6 84100 HP:0005180 Tricuspid regurgitation OMIM:600151 ARL6 84100 HP:0001513 Obesity OMIM:600151 ARL6 84100 HP:0003241 External genital hypoplasia OMIM:600151 ARL6 84100 HP:0000556 Retinal dystrophy OMIM:600151 ARL6 84100 HP:0000089 Renal hypoplasia OMIM:600151 ARL6 84100 HP:0001249 Intellectual disability OMIM:600151 ARL6 84100 HP:0000510 Retinitis pigmentosa OMIM:300816 AIFM1 9131 HP:0002490 Increased CSF lactate OMIM:300816 AIFM1 9131 HP:0001263 Global developmental delay OMIM:300816 AIFM1 9131 HP:0002151 Increased serum lactate OMIM:300816 AIFM1 9131 HP:0011398 Central hypotonia OMIM:300816 AIFM1 9131 HP:0001271 Polyneuropathy OMIM:300816 AIFM1 9131 HP:0003542 Increased serum pyruvate OMIM:300816 AIFM1 9131 HP:0009025 Increased connective tissue OMIM:300816 AIFM1 9131 HP:0001419 X-linked recessive inheritance OMIM:300816 AIFM1 9131 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:300816 AIFM1 9131 HP:0003202 Skeletal muscle atrophy OMIM:300816 AIFM1 9131 HP:0003200 Ragged-red muscle fibers OMIM:300816 AIFM1 9131 HP:0001250 Seizures OMIM:300816 AIFM1 9131 HP:0001265 Hyporeflexia OMIM:300816 AIFM1 9131 HP:0002380 Fasciculations OMIM:300816 AIFM1 9131 HP:0002445 Tetraplegia OMIM:300816 AIFM1 9131 HP:0002376 Developmental regression OMIM:300816 AIFM1 9131 HP:0003676 Progressive disorder OMIM:300816 AIFM1 9131 HP:0001252 Muscular hypotonia OMIM:300816 AIFM1 9131 HP:0003593 Infantile onset OMIM:300816 AIFM1 9131 HP:0002134 Abnormality of the basal ganglia OMIM:300816 AIFM1 9131 HP:0002375 Hypokinesia OMIM:182212 SKI 6497 HP:0005815 Supernumerary ribs OMIM:182212 SKI 6497 HP:0000260 Wide anterior fontanel OMIM:182212 SKI 6497 HP:0000268 Dolichocephaly OMIM:182212 SKI 6497 HP:0001634 Mitral valve prolapse OMIM:182212 SKI 6497 HP:0000586 Shallow orbits OMIM:182212 SKI 6497 HP:0000944 Abnormality of the metaphyses OMIM:182212 SKI 6497 HP:0000895 Lateral clavicle hook OMIM:182212 SKI 6497 HP:0001836 Camptodactyly of toe OMIM:182212 SKI 6497 HP:0001249 Intellectual disability OMIM:182212 SKI 6497 HP:0000938 Osteopenia OMIM:182212 SKI 6497 HP:0001334 Communicating hydrocephalus OMIM:182212 SKI 6497 HP:0001363 Craniosynostosis OMIM:182212 SKI 6497 HP:0000189 Narrow palate OMIM:182212 SKI 6497 HP:0002650 Scoliosis OMIM:182212 SKI 6497 HP:0000520 Proptosis OMIM:182212 SKI 6497 HP:0003745 Sporadic OMIM:182212 SKI 6497 HP:0000327 Hypoplasia of the maxilla OMIM:182212 SKI 6497 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature OMIM:182212 SKI 6497 HP:0001883 Talipes OMIM:182212 SKI 6497 HP:0004349 Reduced bone mineral density OMIM:182212 SKI 6497 HP:0000347 Micrognathia OMIM:182212 SKI 6497 HP:0001762 Talipes equinovarus OMIM:182212 SKI 6497 HP:0000494 Downslanted palpebral fissures OMIM:182212 SKI 6497 HP:0000368 Low-set, posteriorly rotated ears OMIM:182212 SKI 6497 HP:0000486 Strabismus OMIM:182212 SKI 6497 HP:0000463 Anteverted nares OMIM:182212 SKI 6497 HP:0000252 Microcephaly OMIM:182212 SKI 6497 HP:0009473 Joint contracture of the hand OMIM:182212 SKI 6497 HP:0000772 Abnormality of the ribs OMIM:182212 SKI 6497 HP:0001724 Aortic dilatation OMIM:182212 SKI 6497 HP:0003717 Minimal subcutaneous fat OMIM:182212 SKI 6497 HP:0001840 Metatarsus adductus OMIM:182212 SKI 6497 HP:0002857 Genu valgum OMIM:182212 SKI 6497 HP:0002308 Arnold-Chiari malformation OMIM:182212 SKI 6497 HP:0000506 Telecanthus OMIM:182212 SKI 6497 HP:0000508 Ptosis OMIM:182212 SKI 6497 HP:0000377 Abnormality of the pinna OMIM:182212 SKI 6497 HP:0007099 Arnold-Chiari type I malformation OMIM:182212 SKI 6497 HP:0003016 Metaphyseal widening OMIM:182212 SKI 6497 HP:0000974 Hyperextensible skin OMIM:182212 SKI 6497 HP:0000238 Hydrocephalus OMIM:182212 SKI 6497 HP:0002007 Frontal bossing OMIM:182212 SKI 6497 HP:0000006 Autosomal dominant inheritance OMIM:182212 SKI 6497 HP:0000316 Hypertelorism OMIM:182212 SKI 6497 HP:0000028 Cryptorchidism OMIM:182212 SKI 6497 HP:0000689 Dental malocclusion OMIM:182212 SKI 6497 HP:0000405 Conductive hearing impairment OMIM:182212 SKI 6497 HP:0100490 Camptodactyly of finger OMIM:182212 SKI 6497 HP:0008872 Feeding difficulties in infancy OMIM:182212 SKI 6497 HP:0001537 Umbilical hernia OMIM:182212 SKI 6497 HP:0001633 Abnormality of the mitral valve OMIM:182212 SKI 6497 HP:0001763 Pes planus OMIM:182212 SKI 6497 HP:0001263 Global developmental delay OMIM:182212 SKI 6497 HP:0001166 Arachnodactyly OMIM:182212 SKI 6497 HP:0003083 Dislocated radial head OMIM:182212 SKI 6497 HP:0001252 Muscular hypotonia OMIM:182212 SKI 6497 HP:0001382 Joint hypermobility OMIM:182212 SKI 6497 HP:0003042 Elbow dislocation OMIM:182212 SKI 6497 HP:0001519 Disproportionate tall stature OMIM:182212 SKI 6497 HP:0000023 Inguinal hernia OMIM:182212 SKI 6497 HP:0100543 Cognitive impairment OMIM:182212 SKI 6497 HP:0000545 Myopia OMIM:182212 SKI 6497 HP:0001646 Abnormality of the aortic valve OMIM:182212 SKI 6497 HP:0002870 Obstructive sleep apnea OMIM:182212 SKI 6497 HP:0003312 Abnormal form of the vertebral bodies OMIM:182212 SKI 6497 HP:0000767 Pectus excavatum OMIM:182212 SKI 6497 HP:0002119 Ventriculomegaly OMIM:182212 SKI 6497 HP:0002104 Apnea OMIM:182212 SKI 6497 HP:0000774 Narrow chest OMIM:182212 SKI 6497 HP:0001388 Joint laxity OMIM:182212 SKI 6497 HP:0009023 Abdominal wall muscle weakness OMIM:182212 SKI 6497 HP:0000768 Pectus carinatum OMIM:182212 SKI 6497 HP:0001376 Limitation of joint mobility OMIM:182212 SKI 6497 HP:0000348 High forehead OMIM:182212 SKI 6497 HP:0000883 Thin ribs OMIM:182212 SKI 6497 HP:0002020 Gastroesophageal reflux OMIM:182212 SKI 6497 HP:0008440 C1-C2 vertebral abnormality OMIM:182212 SKI 6497 HP:0000218 High palate OMIM:182212 SKI 6497 HP:0002816 Genu recurvatum OMIM:119540 UBB 7314 HP:0000006 Autosomal dominant inheritance OMIM:119540 UBB 7314 HP:0002187 Intellectual disability, profound OMIM:119540 UBB 7314 HP:0001250 Seizures OMIM:119540 UBB 7314 HP:0000212 Gingival overgrowth OMIM:119540 UBB 7314 HP:0000347 Micrognathia OMIM:119540 UBB 7314 HP:0011094 Overbite OMIM:119540 UBB 7314 HP:0009102 Anterior open-bite malocclusion OMIM:119540 UBB 7314 HP:0100335 Non-midline cleft lip OMIM:119540 UBB 7314 HP:0000175 Cleft palate OMIM:603896 EIF2B2 8892 HP:0006808 Cerebral hypomyelination OMIM:603896 EIF2B2 8892 HP:0001252 Muscular hypotonia OMIM:603896 EIF2B2 8892 HP:0007305 CNS demyelination OMIM:603896 EIF2B2 8892 HP:0002354 Memory impairment OMIM:603896 EIF2B2 8892 HP:0000256 Macrocephaly OMIM:603896 EIF2B2 8892 HP:0008233 Decreased serum progesterone OMIM:603896 EIF2B2 8892 HP:0002317 Unsteady gait OMIM:603896 EIF2B2 8892 HP:0008209 Premature ovarian failure OMIM:603896 EIF2B2 8892 HP:0000618 Blindness OMIM:603896 EIF2B2 8892 HP:0003621 Juvenile onset OMIM:603896 EIF2B2 8892 HP:0000007 Autosomal recessive inheritance OMIM:603896 EIF2B2 8892 HP:0001257 Spasticity OMIM:603896 EIF2B2 8892 HP:0004485 Cessation of head growth OMIM:603896 EIF2B2 8892 HP:0000746 Delusions OMIM:603896 EIF2B2 8892 HP:0002376 Developmental regression OMIM:603896 EIF2B2 8892 HP:0000751 Personality changes OMIM:603896 EIF2B2 8892 HP:0000648 Optic atrophy OMIM:603896 EIF2B2 8892 HP:0001254 Lethargy OMIM:603896 EIF2B2 8892 HP:0001250 Seizures OMIM:603896 EIF2B2 8892 HP:0008193 Primary gonadal insufficiency OMIM:603896 EIF2B2 8892 HP:0000712 Emotional lability OMIM:603896 EIF2B2 8892 HP:0000869 Secondary amenorrhea OMIM:603896 EIF2B2 8892 HP:0002352 Leukoencephalopathy OMIM:603896 EIF2B2 8892 HP:0001260 Dysarthria OMIM:603896 EIF2B5 8893 HP:0006808 Cerebral hypomyelination OMIM:603896 EIF2B5 8893 HP:0001252 Muscular hypotonia OMIM:603896 EIF2B5 8893 HP:0007305 CNS demyelination OMIM:603896 EIF2B5 8893 HP:0002354 Memory impairment OMIM:603896 EIF2B5 8893 HP:0000256 Macrocephaly OMIM:603896 EIF2B5 8893 HP:0008233 Decreased serum progesterone OMIM:603896 EIF2B5 8893 HP:0002317 Unsteady gait OMIM:603896 EIF2B5 8893 HP:0008209 Premature ovarian failure OMIM:603896 EIF2B5 8893 HP:0000618 Blindness OMIM:603896 EIF2B5 8893 HP:0003621 Juvenile onset OMIM:603896 EIF2B5 8893 HP:0000007 Autosomal recessive inheritance OMIM:603896 EIF2B5 8893 HP:0001257 Spasticity OMIM:603896 EIF2B5 8893 HP:0004485 Cessation of head growth OMIM:603896 EIF2B5 8893 HP:0000746 Delusions OMIM:603896 EIF2B5 8893 HP:0002376 Developmental regression OMIM:603896 EIF2B5 8893 HP:0000751 Personality changes OMIM:603896 EIF2B5 8893 HP:0000648 Optic atrophy OMIM:603896 EIF2B5 8893 HP:0001254 Lethargy OMIM:603896 EIF2B5 8893 HP:0001250 Seizures OMIM:603896 EIF2B5 8893 HP:0008193 Primary gonadal insufficiency OMIM:603896 EIF2B5 8893 HP:0000712 Emotional lability OMIM:603896 EIF2B5 8893 HP:0000869 Secondary amenorrhea OMIM:603896 EIF2B5 8893 HP:0002352 Leukoencephalopathy OMIM:603896 EIF2B5 8893 HP:0001260 Dysarthria OMIM:603896 EIF2B4 8890 HP:0006808 Cerebral hypomyelination OMIM:603896 EIF2B4 8890 HP:0001252 Muscular hypotonia OMIM:603896 EIF2B4 8890 HP:0007305 CNS demyelination OMIM:603896 EIF2B4 8890 HP:0002354 Memory impairment OMIM:603896 EIF2B4 8890 HP:0000256 Macrocephaly OMIM:603896 EIF2B4 8890 HP:0008233 Decreased serum progesterone OMIM:603896 EIF2B4 8890 HP:0002317 Unsteady gait OMIM:603896 EIF2B4 8890 HP:0008209 Premature ovarian failure OMIM:603896 EIF2B4 8890 HP:0000618 Blindness OMIM:603896 EIF2B4 8890 HP:0003621 Juvenile onset OMIM:603896 EIF2B4 8890 HP:0000007 Autosomal recessive inheritance OMIM:603896 EIF2B4 8890 HP:0001257 Spasticity OMIM:603896 EIF2B4 8890 HP:0004485 Cessation of head growth OMIM:603896 EIF2B4 8890 HP:0000746 Delusions OMIM:603896 EIF2B4 8890 HP:0002376 Developmental regression OMIM:603896 EIF2B4 8890 HP:0000751 Personality changes OMIM:603896 EIF2B4 8890 HP:0000648 Optic atrophy OMIM:603896 EIF2B4 8890 HP:0001254 Lethargy OMIM:603896 EIF2B4 8890 HP:0001250 Seizures OMIM:603896 EIF2B4 8890 HP:0008193 Primary gonadal insufficiency OMIM:603896 EIF2B4 8890 HP:0000712 Emotional lability OMIM:603896 EIF2B4 8890 HP:0000869 Secondary amenorrhea OMIM:603896 EIF2B4 8890 HP:0002352 Leukoencephalopathy OMIM:603896 EIF2B4 8890 HP:0001260 Dysarthria OMIM:603896 EIF2B3 8891 HP:0006808 Cerebral hypomyelination OMIM:603896 EIF2B3 8891 HP:0001252 Muscular hypotonia OMIM:603896 EIF2B3 8891 HP:0007305 CNS demyelination OMIM:603896 EIF2B3 8891 HP:0002354 Memory impairment OMIM:603896 EIF2B3 8891 HP:0000256 Macrocephaly OMIM:603896 EIF2B3 8891 HP:0008233 Decreased serum progesterone OMIM:603896 EIF2B3 8891 HP:0002317 Unsteady gait OMIM:603896 EIF2B3 8891 HP:0008209 Premature ovarian failure OMIM:603896 EIF2B3 8891 HP:0000618 Blindness OMIM:603896 EIF2B3 8891 HP:0003621 Juvenile onset OMIM:603896 EIF2B3 8891 HP:0000007 Autosomal recessive inheritance OMIM:603896 EIF2B3 8891 HP:0001257 Spasticity OMIM:603896 EIF2B3 8891 HP:0004485 Cessation of head growth OMIM:603896 EIF2B3 8891 HP:0000746 Delusions OMIM:603896 EIF2B3 8891 HP:0002376 Developmental regression OMIM:603896 EIF2B3 8891 HP:0000751 Personality changes OMIM:603896 EIF2B3 8891 HP:0000648 Optic atrophy OMIM:603896 EIF2B3 8891 HP:0001254 Lethargy OMIM:603896 EIF2B3 8891 HP:0001250 Seizures OMIM:603896 EIF2B3 8891 HP:0008193 Primary gonadal insufficiency OMIM:603896 EIF2B3 8891 HP:0000712 Emotional lability OMIM:603896 EIF2B3 8891 HP:0000869 Secondary amenorrhea OMIM:603896 EIF2B3 8891 HP:0002352 Leukoencephalopathy OMIM:603896 EIF2B3 8891 HP:0001260 Dysarthria OMIM:603896 EIF2B1 1967 HP:0006808 Cerebral hypomyelination OMIM:603896 EIF2B1 1967 HP:0001252 Muscular hypotonia OMIM:603896 EIF2B1 1967 HP:0007305 CNS demyelination OMIM:603896 EIF2B1 1967 HP:0002354 Memory impairment OMIM:603896 EIF2B1 1967 HP:0000256 Macrocephaly OMIM:603896 EIF2B1 1967 HP:0008233 Decreased serum progesterone OMIM:603896 EIF2B1 1967 HP:0002317 Unsteady gait OMIM:603896 EIF2B1 1967 HP:0008209 Premature ovarian failure OMIM:603896 EIF2B1 1967 HP:0000618 Blindness OMIM:603896 EIF2B1 1967 HP:0003621 Juvenile onset OMIM:603896 EIF2B1 1967 HP:0000007 Autosomal recessive inheritance OMIM:603896 EIF2B1 1967 HP:0001257 Spasticity OMIM:603896 EIF2B1 1967 HP:0004485 Cessation of head growth OMIM:603896 EIF2B1 1967 HP:0000746 Delusions OMIM:603896 EIF2B1 1967 HP:0002376 Developmental regression OMIM:603896 EIF2B1 1967 HP:0000751 Personality changes OMIM:603896 EIF2B1 1967 HP:0000648 Optic atrophy OMIM:603896 EIF2B1 1967 HP:0001254 Lethargy OMIM:603896 EIF2B1 1967 HP:0001250 Seizures OMIM:603896 EIF2B1 1967 HP:0008193 Primary gonadal insufficiency OMIM:603896 EIF2B1 1967 HP:0000712 Emotional lability OMIM:603896 EIF2B1 1967 HP:0000869 Secondary amenorrhea OMIM:603896 EIF2B1 1967 HP:0002352 Leukoencephalopathy OMIM:603896 EIF2B1 1967 HP:0001260 Dysarthria OMIM:256040 PSMB8 5696 HP:0001744 Splenomegaly OMIM:256040 PSMB8 5696 HP:0000007 Autosomal recessive inheritance OMIM:256040 PSMB8 5696 HP:0000509 Conjunctivitis OMIM:256040 PSMB8 5696 HP:0002653 Bone pain OMIM:256040 PSMB8 5696 HP:0004322 Short stature OMIM:256040 PSMB8 5696 HP:0010783 Erythema OMIM:256040 PSMB8 5696 HP:0000400 Macrotia OMIM:256040 PSMB8 5696 HP:0011675 Arrhythmia OMIM:256040 PSMB8 5696 HP:0002240 Hepatomegaly OMIM:256040 PSMB8 5696 HP:0004370 Abnormality of temperature regulation OMIM:256040 PSMB8 5696 HP:0001935 Microcytic anemia OMIM:256040 PSMB8 5696 HP:0001324 Muscle weakness OMIM:256040 PSMB8 5696 HP:0008887 Adipose tissue loss OMIM:256040 PSMB8 5696 HP:0002716 Lymphadenopathy OMIM:256040 PSMB8 5696 HP:0000448 Prominent nose OMIM:256040 PSMB8 5696 HP:0000158 Macroglossia OMIM:256040 PSMB8 5696 HP:0003202 Skeletal muscle atrophy OMIM:256040 PSMB8 5696 HP:0001640 Cardiomegaly OMIM:256040 PSMB8 5696 HP:0000179 Thick lower lip vermilion OMIM:256040 PSMB8 5696 HP:0100578 Lipoatrophy OMIM:256040 PSMB8 5696 HP:0002155 Hypertriglyceridemia OMIM:256040 PSMB8 5696 HP:0012490 Panniculitis OMIM:256040 PSMB8 5696 HP:0007256 Abnormal pyramidal signs OMIM:256040 PSMB8 5696 HP:0001635 Congestive heart failure OMIM:256040 PSMB8 5696 HP:0000938 Osteopenia OMIM:256040 PSMB8 5696 HP:0100774 Hyperostosis OMIM:256040 PSMB8 5696 HP:0005830 Flexion contracture of toe OMIM:256040 PSMB8 5696 HP:0001256 Intellectual disability, mild OMIM:256040 PSMB8 5696 HP:0001166 Arachnodactyly OMIM:256040 PSMB8 5696 HP:0001250 Seizures OMIM:256040 PSMB8 5696 HP:0000975 Hyperhidrosis OMIM:256040 PSMB8 5696 HP:0002829 Arthralgia OMIM:256040 PSMB8 5696 HP:0100807 Long fingers OMIM:256040 PSMB8 5696 HP:0002093 Respiratory insufficiency OMIM:256040 PSMB8 5696 HP:0009125 Lipodystrophy OMIM:256040 PSMB8 5696 HP:0000988 Skin rash OMIM:256040 PSMB8 5696 HP:0100543 Cognitive impairment OMIM:256040 PSMB8 5696 HP:0001090 Large eyes OMIM:256040 PSMB8 5696 HP:0010702 Hypergammaglobulinemia OMIM:256040 PSMB8 5696 HP:0002135 Basal ganglia calcification OMIM:256040 PSMB8 5696 HP:0001376 Limitation of joint mobility OMIM:256040 PSMB8 5696 HP:0001508 Failure to thrive OMIM:256040 PSMB8 5696 HP:0002987 Elbow flexion contracture OMIM:256040 PSMB8 5696 HP:0100759 Clubbing of fingers OMIM:256040 PSMB8 5696 HP:0100490 Camptodactyly of finger OMIM:256040 PSMB8 5696 HP:0000157 Abnormality of the tongue OMIM:256040 PSMB8 5696 HP:0000953 Hyperpigmentation of the skin OMIM:256040 PSMB8 5696 HP:0005105 Abnormal nasal morphology OMIM:256040 PSMB8 5696 HP:0002910 Elevated hepatic transaminases OMIM:256040 PSMB8 5696 HP:0003565 Elevated erythrocyte sedimentation rate OMIM:256040 PSMB8 5696 HP:0002804 Arthrogryposis multiplex congenita OMIM:256040 PSMB8 5696 HP:0100534 Episcleritis OMIM:256040 PSMB8 5696 HP:0100760 Clubbing of toes OMIM:220150 SLC22A12 116085 HP:0000007 Autosomal recessive inheritance OMIM:220150 SLC22A12 116085 HP:0000791 Uric acid nephrolithiasis OMIM:220150 SLC22A12 116085 HP:0012611 Increased urinary urate OMIM:220150 SLC22A12 116085 HP:0003537 Hypouricemia OMIM:220150 SLC22A12 116085 HP:0001919 Acute kidney injury OMIM:613832 PRICKLE2 166336 HP:0001761 Pes cavus OMIM:613832 PRICKLE2 166336 HP:0000639 Nystagmus OMIM:613832 PRICKLE2 166336 HP:0000006 Autosomal dominant inheritance OMIM:613832 PRICKLE2 166336 HP:0009830 Peripheral neuropathy OMIM:613832 PRICKLE2 166336 HP:0001310 Dysmetria OMIM:613832 PRICKLE2 166336 HP:0003828 Variable expressivity OMIM:613832 PRICKLE2 166336 HP:0001288 Gait disturbance OMIM:613832 PRICKLE2 166336 HP:0002123 Generalized myoclonic seizures OMIM:613832 PRICKLE2 166336 HP:0001268 Mental deterioration OMIM:613832 PRICKLE2 166336 HP:0001260 Dysarthria OMIM:613832 PRICKLE2 166336 HP:0003676 Progressive disorder OMIM:613832 PRICKLE2 166336 HP:0002353 EEG abnormality OMIM:613832 PRICKLE2 166336 HP:0001284 Areflexia OMIM:612716 SPR 6697 HP:0001337 Tremor OMIM:612716 SPR 6697 HP:0001257 Spasticity OMIM:612716 SPR 6697 HP:0002360 Sleep disturbance OMIM:612716 SPR 6697 HP:0000006 Autosomal dominant inheritance OMIM:612716 SPR 6697 HP:0001249 Intellectual disability OMIM:612716 SPR 6697 HP:0001263 Global developmental delay OMIM:612716 SPR 6697 HP:0000252 Microcephaly OMIM:612716 SPR 6697 HP:0001251 Ataxia OMIM:612716 SPR 6697 HP:0000752 Hyperactivity OMIM:612716 SPR 6697 HP:0001260 Dysarthria OMIM:612716 SPR 6697 HP:0001510 Growth delay OMIM:612716 SPR 6697 HP:0008936 Muscular hypotonia of the trunk OMIM:612716 SPR 6697 HP:0000007 Autosomal recessive inheritance OMIM:612716 SPR 6697 HP:0008297 Transient hyperphenylalaninemia OMIM:612716 SPR 6697 HP:0003828 Variable expressivity OMIM:612716 SPR 6697 HP:0003593 Infantile onset OMIM:612716 SPR 6697 HP:0000718 Aggressive behavior OMIM:612716 SPR 6697 HP:0001250 Seizures OMIM:612716 SPR 6697 HP:0001332 Dystonia OMIM:612716 SPR 6697 HP:0000657 Oculomotor apraxia OMIM:612716 SPR 6697 HP:0001266 Choreoathetosis OMIM:605820 GNE 10020 HP:0003581 Adult onset OMIM:605820 GNE 10020 HP:0003791 Deposits immunoreactive to beta-amyloid protein OMIM:605820 GNE 10020 HP:0003805 Rimmed vacuoles OMIM:605820 GNE 10020 HP:0003458 EMG: myopathic abnormalities OMIM:605820 GNE 10020 HP:0000007 Autosomal recessive inheritance OMIM:605820 GNE 10020 HP:0003236 Elevated serum creatine phosphokinase OMIM:605820 GNE 10020 HP:0002460 Distal muscle weakness OMIM:605820 GNE 10020 HP:0001288 Gait disturbance OMIM:605820 GNE 10020 HP:0003693 Distal amyotrophy OMIM:176390 PSG1 5669 HP:0010701 Abnormal immunoglobulin level OMIM:176390 PSG1 5669 HP:0000006 Autosomal dominant inheritance ORPHANET:88637 POLR3B 55703 HP:0002311 Incoordination ORPHANET:88637 POLR3B 55703 HP:0000164 Abnormality of the teeth ORPHANET:88637 POLR3B 55703 HP:0000078 Abnormality of the genital system ORPHANET:88637 POLR3A 11128 HP:0002311 Incoordination ORPHANET:88637 POLR3A 11128 HP:0000164 Abnormality of the teeth ORPHANET:88637 POLR3A 11128 HP:0000078 Abnormality of the genital system OMIM:616325 MUSK 4593 HP:0002093 Respiratory insufficiency OMIM:616325 MUSK 4593 HP:0010628 Facial palsy OMIM:616325 MUSK 4593 HP:0000467 Neck muscle weakness OMIM:616325 MUSK 4593 HP:0000508 Ptosis OMIM:616325 MUSK 4593 HP:0003391 Gowers sign OMIM:616325 MUSK 4593 HP:0000602 Ophthalmoplegia OMIM:616325 MUSK 4593 HP:0001252 Muscular hypotonia OMIM:616325 MUSK 4593 HP:0003388 Easy fatigability OMIM:615270 FGF17 8822 HP:0000938 Osteopenia OMIM:615270 FGF17 8822 HP:0000823 Delayed puberty OMIM:615270 FGF17 8822 HP:0000135 Hypogonadism OMIM:615270 FGF17 8822 HP:0000939 Osteoporosis OMIM:615314 TCF12 6938 HP:0001263 Global developmental delay OMIM:615314 TCF12 6938 HP:0000508 Ptosis OMIM:615314 TCF12 6938 HP:0100543 Cognitive impairment OMIM:615314 TCF12 6938 HP:0001357 Plagiocephaly OMIM:615314 TCF12 6938 HP:0000486 Strabismus OMIM:615314 TCF12 6938 HP:0001822 Hallux valgus OMIM:615314 TCF12 6938 HP:0000256 Macrocephaly OMIM:615314 TCF12 6938 HP:0000006 Autosomal dominant inheritance OMIM:615314 TCF12 6938 HP:0001363 Craniosynostosis OMIM:615314 TCF12 6938 HP:0000365 Hearing impairment OMIM:615314 TCF12 6938 HP:0000717 Autism OMIM:615314 TCF12 6938 HP:0001156 Brachydactyly syndrome OMIM:615314 TCF12 6938 HP:0001123 Visual field defect OMIM:615314 TCF12 6938 HP:0000954 Single transverse palmar crease OMIM:615314 TCF12 6938 HP:0000272 Malar flattening OMIM:615314 TCF12 6938 HP:0000294 Low anterior hairline OMIM:615314 TCF12 6938 HP:0000324 Facial asymmetry OMIM:615314 TCF12 6938 HP:0002007 Frontal bossing OMIM:309630 FGF16 8823 HP:0005867 Fused fourth and fifth metacarpals OMIM:309630 FGF16 8823 HP:0001419 X-linked recessive inheritance OMIM:309630 FGF16 8823 HP:0001163 Abnormality of the metacarpal bones OMIM:610131 POLG2 11232 HP:0000833 Glucose intolerance OMIM:610131 POLG2 11232 HP:0001508 Failure to thrive OMIM:610131 POLG2 11232 HP:0003676 Progressive disorder OMIM:610131 POLG2 11232 HP:0011675 Arrhythmia OMIM:610131 POLG2 11232 HP:0001250 Seizures OMIM:610131 POLG2 11232 HP:0010628 Facial palsy OMIM:610131 POLG2 11232 HP:0001272 Cerebellar atrophy OMIM:610131 POLG2 11232 HP:0002151 Increased serum lactate OMIM:610131 POLG2 11232 HP:0003581 Adult onset OMIM:610131 POLG2 11232 HP:0100704 Cortical visual impairment OMIM:610131 POLG2 11232 HP:0003326 Myalgia OMIM:610131 POLG2 11232 HP:0003828 Variable expressivity OMIM:610131 POLG2 11232 HP:0001263 Global developmental delay OMIM:610131 POLG2 11232 HP:0003690 Limb muscle weakness OMIM:610131 POLG2 11232 HP:0000508 Ptosis OMIM:610131 POLG2 11232 HP:0002019 Constipation OMIM:610131 POLG2 11232 HP:0003236 Elevated serum creatine phosphokinase OMIM:610131 POLG2 11232 HP:0000006 Autosomal dominant inheritance OMIM:610131 POLG2 11232 HP:0003323 Progressive muscle weakness OMIM:610131 POLG2 11232 HP:0003689 Multiple mitochondrial DNA deletions OMIM:610131 POLG2 11232 HP:0001252 Muscular hypotonia OMIM:610131 POLG2 11232 HP:0002020 Gastroesophageal reflux OMIM:610131 POLG2 11232 HP:0003688 Decreased activity of cytochrome C oxidase in muscle tissue OMIM:610131 POLG2 11232 HP:0003546 Exercise intolerance OMIM:610131 POLG2 11232 HP:0000590 Progressive external ophthalmoplegia OMIM:610131 POLG2 11232 HP:0002910 Elevated hepatic transaminases OMIM:300055 MECP2 4204 HP:0002353 EEG abnormality OMIM:300055 MECP2 4204 HP:0001419 X-linked recessive inheritance OMIM:300055 MECP2 4204 HP:0000164 Abnormality of the teeth OMIM:300055 MECP2 4204 HP:0001337 Tremor OMIM:300055 MECP2 4204 HP:0003677 Slow progression OMIM:300055 MECP2 4204 HP:0003763 Bruxism OMIM:300055 MECP2 4204 HP:0000400 Macrotia OMIM:300055 MECP2 4204 HP:0001256 Intellectual disability, mild OMIM:300055 MECP2 4204 HP:0000708 Behavioral abnormality OMIM:300055 MECP2 4204 HP:0002362 Shuffling gait OMIM:300055 MECP2 4204 HP:0000252 Microcephaly OMIM:300055 MECP2 4204 HP:0000053 Macroorchidism OMIM:300055 MECP2 4204 HP:0002376 Developmental regression OMIM:300055 MECP2 4204 HP:0001250 Seizures OMIM:300055 MECP2 4204 HP:0001276 Hypertonia OMIM:300055 MECP2 4204 HP:0000709 Psychosis OMIM:300055 MECP2 4204 HP:0002064 Spastic gait OMIM:300055 MECP2 4204 HP:0001347 Hyperreflexia OMIM:300055 MECP2 4204 HP:0003487 Babinski sign OMIM:300055 MECP2 4204 HP:0001266 Choreoathetosis OMIM:300055 MECP2 4204 HP:0001626 Abnormality of the cardiovascular system OMIM:300055 MECP2 4204 HP:0000750 Delayed speech and language development OMIM:300055 MECP2 4204 HP:0001263 Global developmental delay OMIM:300055 MECP2 4204 HP:0001761 Pes cavus OMIM:300055 MECP2 4204 HP:0002650 Scoliosis OMIM:300055 MECP2 4204 HP:0000218 High palate OMIM:300055 MECP2 4204 HP:0000347 Micrognathia OMIM:300055 MECP2 4204 HP:0002307 Drooling OMIM:300055 MECP2 4204 HP:0001251 Ataxia OMIM:300055 MECP2 4204 HP:0001300 Parkinsonism OMIM:300055 MECP2 4204 HP:0100543 Cognitive impairment OMIM:300055 MECP2 4204 HP:0003781 Excessive salivation OMIM:300055 MECP2 4204 HP:0000297 Facial hypotonia OMIM:300055 MECP2 4204 HP:0000470 Short neck OMIM:300055 MECP2 4204 HP:0001288 Gait disturbance OMIM:615582 TGFB3 7043 HP:0001518 Small for gestational age OMIM:615582 TGFB3 7043 HP:0004322 Short stature OMIM:615582 TGFB3 7043 HP:0000316 Hypertelorism OMIM:615582 TGFB3 7043 HP:0000278 Retrognathia OMIM:615582 TGFB3 7043 HP:0001265 Hyporeflexia OMIM:615582 TGFB3 7043 HP:0010665 Bilateral coxa valga OMIM:615582 TGFB3 7043 HP:0003199 Decreased muscle mass OMIM:615582 TGFB3 7043 HP:0001763 Pes planus OMIM:615582 TGFB3 7043 HP:0000193 Bifid uvula OMIM:615582 TGFB3 7043 HP:0000520 Proptosis OMIM:615582 TGFB3 7043 HP:0000767 Pectus excavatum OMIM:615582 TGFB3 7043 HP:0000592 Blue sclerae OMIM:615582 TGFB3 7043 HP:0000006 Autosomal dominant inheritance OMIM:616113 DMXL2 23312 HP:0001332 Dystonia OMIM:616113 DMXL2 23312 HP:0001260 Dysarthria OMIM:616113 DMXL2 23312 HP:0001251 Ataxia OMIM:616113 DMXL2 23312 HP:0001270 Motor delay OMIM:616113 DMXL2 23312 HP:0011787 Central hypothyroidism OMIM:616113 DMXL2 23312 HP:0008897 Postnatal growth retardation OMIM:616113 DMXL2 23312 HP:0001730 Progressive hearing impairment OMIM:616113 DMXL2 23312 HP:0001249 Intellectual disability OMIM:616113 DMXL2 23312 HP:0004322 Short stature OMIM:145980 CASR 846 HP:0000843 Hyperparathyroidism OMIM:145980 CASR 846 HP:0003127 Hypocalciuria OMIM:145980 CASR 846 HP:0003072 Hypercalcemia OMIM:145980 CASR 846 HP:0001733 Pancreatitis OMIM:145980 CASR 846 HP:0002918 Hypermagnesemia OMIM:145980 CASR 846 HP:0000006 Autosomal dominant inheritance OMIM:145980 CASR 846 HP:0000787 Nephrolithiasis OMIM:613730 JAM3 83700 HP:0001263 Global developmental delay OMIM:613730 JAM3 83700 HP:0000518 Cataract OMIM:613730 JAM3 83700 HP:0002240 Hepatomegaly OMIM:613730 JAM3 83700 HP:0002119 Ventriculomegaly OMIM:613730 JAM3 83700 HP:0001321 Cerebellar hypoplasia OMIM:613730 JAM3 83700 HP:0001250 Seizures OMIM:613730 JAM3 83700 HP:0001257 Spasticity OMIM:613730 JAM3 83700 HP:0005484 Postnatal microcephaly OMIM:613730 JAM3 83700 HP:0000028 Cryptorchidism OMIM:613730 JAM3 83700 HP:0000086 Ectopic kidney OMIM:613730 JAM3 83700 HP:0000007 Autosomal recessive inheritance OMIM:613730 JAM3 83700 HP:0000800 Cystic renal dysplasia OMIM:613730 JAM3 83700 HP:0003577 Congenital onset OMIM:613730 JAM3 83700 HP:0001347 Hyperreflexia OMIM:600882 RAB7A 7879 HP:0001886 Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) OMIM:600882 RAB7A 7879 HP:0001284 Areflexia OMIM:600882 RAB7A 7879 HP:0003693 Distal amyotrophy OMIM:600882 RAB7A 7879 HP:0001810 Dystrophic toenail OMIM:600882 RAB7A 7879 HP:0003376 Steppage gait OMIM:600882 RAB7A 7879 HP:0002460 Distal muscle weakness OMIM:600882 RAB7A 7879 HP:0001265 Hyporeflexia OMIM:600882 RAB7A 7879 HP:0001765 Hammertoe OMIM:600882 RAB7A 7879 HP:0000006 Autosomal dominant inheritance OMIM:600882 RAB7A 7879 HP:0001868 Autoamputation (feet) OMIM:600882 RAB7A 7879 HP:0003378 Axonal degeneration/regeneration OMIM:600882 RAB7A 7879 HP:0003431 Decreased motor nerve conduction velocity OMIM:600882 RAB7A 7879 HP:0003384 Peripheral axonal atrophy OMIM:600882 RAB7A 7879 HP:0001761 Pes cavus OMIM:600882 RAB7A 7879 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:600882 RAB7A 7879 HP:0001763 Pes planus OMIM:600882 RAB7A 7879 HP:0009027 Foot dorsiflexor weakness OMIM:613080 CBX2 84733 HP:0000006 Autosomal dominant inheritance OMIM:613080 CBX2 84733 HP:0012245 Sex reversal OMIM:615974 EPS8 2059 HP:0000007 Autosomal recessive inheritance OMIM:615974 EPS8 2059 HP:0012715 Profound hearing impairment OMIM:616166 MFAP5 8076 HP:0005110 Atrial fibrillation OMIM:616166 MFAP5 8076 HP:0001634 Mitral valve prolapse OMIM:616166 MFAP5 8076 HP:0012727 Thoracic aortic aneurysm OMIM:616166 MFAP5 8076 HP:0001166 Arachnodactyly OMIM:616166 MFAP5 8076 HP:0000768 Pectus carinatum OMIM:616166 MFAP5 8076 HP:0000767 Pectus excavatum OMIM:616166 MFAP5 8076 HP:0000218 High palate OMIM:268305 EIF4A3 9775 HP:0000175 Cleft palate OMIM:268305 EIF4A3 9775 HP:0004059 Radial club hand OMIM:268305 EIF4A3 9775 HP:0004209 Clinodactyly of the 5th finger OMIM:268305 EIF4A3 9775 HP:0030043 Hip Subluxation OMIM:268305 EIF4A3 9775 HP:0000369 Low-set ears OMIM:268305 EIF4A3 9775 HP:0000377 Abnormality of the pinna OMIM:268305 EIF4A3 9775 HP:0010752 Cleft mandible OMIM:268305 EIF4A3 9775 HP:0008807 Acetabular dysplasia OMIM:268305 EIF4A3 9775 HP:0001163 Abnormality of the metacarpal bones OMIM:268305 EIF4A3 9775 HP:0004322 Short stature OMIM:268305 EIF4A3 9775 HP:0009094 Cleft lower alveolar ridge OMIM:268305 EIF4A3 9775 HP:0001883 Talipes OMIM:268305 EIF4A3 9775 HP:0011968 Feeding difficulties OMIM:268305 EIF4A3 9775 HP:0009803 Short phalanx of finger OMIM:268305 EIF4A3 9775 HP:0009623 Proximal placement of thumb OMIM:268305 EIF4A3 9775 HP:0001762 Talipes equinovarus OMIM:268305 EIF4A3 9775 HP:0008744 Abnormality of the aryepiglottic fold OMIM:268305 EIF4A3 9775 HP:0002984 Hypoplasia of the radius OMIM:268305 EIF4A3 9775 HP:0000308 Microretrognathia OMIM:268305 EIF4A3 9775 HP:0006355 Agenesis of mandibular central incisor OMIM:268305 EIF4A3 9775 HP:0000411 Protruding ear OMIM:268305 EIF4A3 9775 HP:0002006 Facial cleft OMIM:268305 EIF4A3 9775 HP:0003038 Fibular hypoplasia OMIM:268305 EIF4A3 9775 HP:0000160 Narrow mouth OMIM:268305 EIF4A3 9775 HP:0001608 Abnormality of the voice OMIM:268305 EIF4A3 9775 HP:0001263 Global developmental delay OMIM:268305 EIF4A3 9775 HP:0100499 Tibial deviation of toes OMIM:268305 EIF4A3 9775 HP:0009778 Short thumb OMIM:268305 EIF4A3 9775 HP:0000201 Pierre-Robin sequence OMIM:268305 EIF4A3 9775 HP:0009804 Reduced number of teeth OMIM:268305 EIF4A3 9775 HP:0002992 Abnormality of the tibia OMIM:268305 EIF4A3 9775 HP:0000218 High palate OMIM:268305 EIF4A3 9775 HP:0000193 Bifid uvula OMIM:268305 EIF4A3 9775 HP:0002827 Hip dislocation OMIM:268305 EIF4A3 9775 HP:0000368 Low-set, posteriorly rotated ears OMIM:268305 EIF4A3 9775 HP:0000448 Prominent nose OMIM:268305 EIF4A3 9775 HP:0008753 Aplasia of the epiglottis OMIM:268305 EIF4A3 9775 HP:0000347 Micrognathia OMIM:268305 EIF4A3 9775 HP:0000162 Glossoptosis OMIM:268305 EIF4A3 9775 HP:0005736 Short tibia OMIM:268305 EIF4A3 9775 HP:0010049 Short metacarpal OMIM:268305 EIF4A3 9775 HP:0009486 Radial deviation of the hand OMIM:268305 EIF4A3 9775 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:268305 EIF4A3 9775 HP:0000007 Autosomal recessive inheritance OMIM:268305 EIF4A3 9775 HP:0002093 Respiratory insufficiency OMIM:607694 POLR3A 11128 HP:0002174 Postural tremor OMIM:607694 POLR3A 11128 HP:0003812 Phenotypic variability OMIM:607694 POLR3A 11128 HP:0009830 Peripheral neuropathy OMIM:607694 POLR3A 11128 HP:0003429 CNS hypomyelination OMIM:607694 POLR3A 11128 HP:0002015 Dysphagia OMIM:607694 POLR3A 11128 HP:0002307 Drooling OMIM:607694 POLR3A 11128 HP:0002079 Hypoplasia of the corpus callosum OMIM:607694 POLR3A 11128 HP:0001257 Spasticity OMIM:607694 POLR3A 11128 HP:0003487 Babinski sign OMIM:607694 POLR3A 11128 HP:0002127 Abnormal upper motor neuron morphology OMIM:607694 POLR3A 11128 HP:0000007 Autosomal recessive inheritance OMIM:607694 POLR3A 11128 HP:0001272 Cerebellar atrophy OMIM:607694 POLR3A 11128 HP:0001260 Dysarthria OMIM:607694 POLR3A 11128 HP:0003676 Progressive disorder OMIM:607694 POLR3A 11128 HP:0001310 Dysmetria OMIM:607694 POLR3A 11128 HP:0000677 Oligodontia OMIM:607694 POLR3A 11128 HP:0002120 Cerebral cortical atrophy OMIM:607694 POLR3A 11128 HP:0000044 Hypogonadotrophic hypogonadism OMIM:607694 POLR3A 11128 HP:0000668 Hypodontia OMIM:607694 POLR3A 11128 HP:0001347 Hyperreflexia OMIM:607694 POLR3A 11128 HP:0000639 Nystagmus OMIM:607694 POLR3A 11128 HP:0002415 Leukodystrophy OMIM:607694 POLR3A 11128 HP:0000648 Optic atrophy OMIM:602471 GSC 145258 HP:0003577 Congenital onset OMIM:602471 GSC 145258 HP:0003083 Dislocated radial head OMIM:602471 GSC 145258 HP:0001371 Flexion contracture OMIM:602471 GSC 145258 HP:0005792 Short humerus OMIM:602471 GSC 145258 HP:0000272 Malar flattening OMIM:602471 GSC 145258 HP:0011968 Feeding difficulties OMIM:602471 GSC 145258 HP:0004467 Preauricular pit OMIM:602471 GSC 145258 HP:0000218 High palate OMIM:602471 GSC 145258 HP:0008905 Rhizomelia OMIM:602471 GSC 145258 HP:0000028 Cryptorchidism OMIM:602471 GSC 145258 HP:0000160 Narrow mouth OMIM:602471 GSC 145258 HP:0000882 Hypoplastic scapulae OMIM:602471 GSC 145258 HP:0000405 Conductive hearing impairment OMIM:602471 GSC 145258 HP:0000007 Autosomal recessive inheritance OMIM:602471 GSC 145258 HP:0002827 Hip dislocation OMIM:602471 GSC 145258 HP:0000494 Downslanted palpebral fissures OMIM:602471 GSC 145258 HP:0000601 Hypotelorism OMIM:602471 GSC 145258 HP:0000347 Micrognathia OMIM:602471 GSC 145258 HP:0000490 Deeply set eye OMIM:602471 GSC 145258 HP:0000413 Atresia of the external auditory canal OMIM:602471 GSC 145258 HP:0008785 Delayed ossification of pubic rami OMIM:602471 GSC 145258 HP:0001762 Talipes equinovarus OMIM:602471 GSC 145258 HP:0006595 Scapulohumeral synostosis OMIM:610629 RPS24 6229 HP:0011904 Persistence of hemoglobin F OMIM:610629 RPS24 6229 HP:0001972 Macrocytic anemia OMIM:610629 RPS24 6229 HP:0001896 Reticulocytopenia OMIM:610629 RPS24 6229 HP:0005518 Erythrocyte macrocytosis OMIM:610629 RPS24 6229 HP:0000006 Autosomal dominant inheritance OMIM:616260 RNF125 54941 HP:0000270 Delayed cranial suture closure OMIM:616260 RNF125 54941 HP:0000998 Hypertrichosis OMIM:616260 RNF125 54941 HP:0001250 Seizures OMIM:616260 RNF125 54941 HP:0000739 Anxiety OMIM:616260 RNF125 54941 HP:0002650 Scoliosis OMIM:616260 RNF125 54941 HP:0001943 Hypoglycemia OMIM:616260 RNF125 54941 HP:0001097 Keratoconjunctivitis sicca OMIM:616260 RNF125 54941 HP:0000750 Delayed speech and language development OMIM:616260 RNF125 54941 HP:0000938 Osteopenia OMIM:616260 RNF125 54941 HP:0000463 Anteverted nares OMIM:616260 RNF125 54941 HP:0000506 Telecanthus OMIM:616260 RNF125 54941 HP:0002003 Large forehead OMIM:616260 RNF125 54941 HP:0001252 Muscular hypotonia OMIM:616260 RNF125 54941 HP:0000158 Macroglossia OMIM:616260 RNF125 54941 HP:0000574 Thick eyebrow OMIM:616260 RNF125 54941 HP:0002020 Gastroesophageal reflux OMIM:616260 RNF125 54941 HP:0002090 Pneumonia OMIM:616260 RNF125 54941 HP:0002120 Cerebral cortical atrophy OMIM:616260 RNF125 54941 HP:0001288 Gait disturbance OMIM:616260 RNF125 54941 HP:0002104 Apnea OMIM:616260 RNF125 54941 HP:0001279 Syncope OMIM:616260 RNF125 54941 HP:0000303 Mandibular prognathia OMIM:616260 RNF125 54941 HP:0002119 Ventriculomegaly OMIM:616260 RNF125 54941 HP:0000238 Hydrocephalus OMIM:616260 RNF125 54941 HP:0000256 Macrocephaly OMIM:616260 RNF125 54941 HP:0001249 Intellectual disability OMIM:616260 RNF125 54941 HP:0000445 Wide nose OMIM:616260 RNF125 54941 HP:0100021 Cerebral palsy OMIM:616260 RNF125 54941 HP:0002312 Clumsiness OMIM:300615 MAOA 4128 HP:0100543 Cognitive impairment OMIM:300615 MAOA 4128 HP:0000717 Autism OMIM:300615 MAOA 4128 HP:0000708 Behavioral abnormality OMIM:300615 MAOA 4128 HP:0001270 Motor delay OMIM:614640 UVSSA 57654 HP:0000992 Cutaneous photosensitivity OMIM:614640 UVSSA 57654 HP:0001009 Telangiectasia OMIM:614640 UVSSA 57654 HP:0000958 Dry skin OMIM:614640 UVSSA 57654 HP:0001480 Freckling OMIM:614640 UVSSA 57654 HP:0003593 Infantile onset OMIM:614640 UVSSA 57654 HP:0003224 Increased cellular sensitivity to UV light OMIM:614640 UVSSA 57654 HP:0000007 Autosomal recessive inheritance OMIM:245000 CTSC 1075 HP:0000972 Palmoplantar hyperkeratosis OMIM:245000 CTSC 1075 HP:0000166 Severe periodontitis OMIM:245000 CTSC 1075 HP:0001166 Arachnodactyly OMIM:245000 CTSC 1075 HP:0001053 Hypopigmented skin patches OMIM:245000 CTSC 1075 HP:0100523 Liver abscess OMIM:245000 CTSC 1075 HP:0001231 Abnormality of the fingernails OMIM:245000 CTSC 1075 HP:0002514 Cerebral calcification OMIM:245000 CTSC 1075 HP:0000007 Autosomal recessive inheritance OMIM:245000 CTSC 1075 HP:0000704 Periodontitis OMIM:245000 CTSC 1075 HP:0002797 Osteolysis OMIM:245000 CTSC 1075 HP:0000230 Gingivitis OMIM:245000 CTSC 1075 HP:0006480 Premature loss of teeth OMIM:245000 CTSC 1075 HP:0006308 Atrophy of alveolar ridges OMIM:245000 CTSC 1075 HP:0200042 Skin ulcer OMIM:245000 CTSC 1075 HP:0008069 Neoplasm of the skin OMIM:245000 CTSC 1075 HP:0000998 Hypertrichosis OMIM:245000 CTSC 1075 HP:0009804 Reduced number of teeth OMIM:245000 CTSC 1075 HP:0006323 Premature loss of primary teeth OMIM:245000 CTSC 1075 HP:0200039 Pustule OMIM:245000 CTSC 1075 HP:0002861 Melanoma OMIM:245000 CTSC 1075 HP:0000982 Palmoplantar keratoderma OMIM:245000 CTSC 1075 HP:0006960 Choroid plexus calcification OMIM:245000 CTSC 1075 HP:0002205 Recurrent respiratory infections OMIM:208920 APTX 54840 HP:0001266 Choreoathetosis OMIM:208920 APTX 54840 HP:0001761 Pes cavus OMIM:208920 APTX 54840 HP:0003387 Decreased number of large peripheral myelinated nerve fibers OMIM:208920 APTX 54840 HP:0003124 Hypercholesterolemia OMIM:208920 APTX 54840 HP:0002936 Distal sensory impairment OMIM:208920 APTX 54840 HP:0002650 Scoliosis OMIM:208920 APTX 54840 HP:0002078 Truncal ataxia OMIM:208920 APTX 54840 HP:0010747 Medial flaring of the eyebrow OMIM:208920 APTX 54840 HP:0000007 Autosomal recessive inheritance OMIM:208920 APTX 54840 HP:0001284 Areflexia OMIM:208920 APTX 54840 HP:0002070 Limb ataxia OMIM:208920 APTX 54840 HP:0000590 Progressive external ophthalmoplegia OMIM:208920 APTX 54840 HP:0001268 Mental deterioration OMIM:208920 APTX 54840 HP:0002311 Incoordination OMIM:208920 APTX 54840 HP:0100543 Cognitive impairment OMIM:208920 APTX 54840 HP:0001251 Ataxia OMIM:208920 APTX 54840 HP:0000571 Hypometric saccades OMIM:208920 APTX 54840 HP:0003621 Juvenile onset OMIM:208920 APTX 54840 HP:0001272 Cerebellar atrophy OMIM:208920 APTX 54840 HP:0001332 Dystonia OMIM:208920 APTX 54840 HP:0003073 Hypoalbuminemia OMIM:208920 APTX 54840 HP:0001337 Tremor OMIM:208920 APTX 54840 HP:0002066 Gait ataxia OMIM:208920 APTX 54840 HP:0003693 Distal amyotrophy OMIM:208920 APTX 54840 HP:0000657 Oculomotor apraxia OMIM:208920 APTX 54840 HP:0001265 Hyporeflexia OMIM:208920 APTX 54840 HP:0000764 Peripheral axonal degeneration OMIM:208920 APTX 54840 HP:0001324 Muscle weakness OMIM:208920 APTX 54840 HP:0000640 Gaze-evoked nystagmus OMIM:208920 APTX 54840 HP:0003581 Adult onset OMIM:208920 APTX 54840 HP:0001260 Dysarthria OMIM:300910 PLS3 5358 HP:0000938 Osteopenia OMIM:300910 PLS3 5358 HP:0000939 Osteoporosis OMIM:300910 PLS3 5358 HP:0001423 X-linked dominant inheritance OMIM:605280 HSPD1 3329 HP:0002064 Spastic gait OMIM:605280 HSPD1 3329 HP:0003676 Progressive disorder OMIM:605280 HSPD1 3329 HP:0001258 Spastic paraplegia OMIM:605280 HSPD1 3329 HP:0002166 Impaired vibration sensation in the lower limbs OMIM:605280 HSPD1 3329 HP:0002839 Urinary bladder sphincter dysfunction OMIM:605280 HSPD1 3329 HP:0000020 Urinary incontinence OMIM:605280 HSPD1 3329 HP:0000012 Urinary urgency OMIM:605280 HSPD1 3329 HP:0007340 Lower limb muscle weakness OMIM:605280 HSPD1 3329 HP:0000006 Autosomal dominant inheritance OMIM:605280 HSPD1 3329 HP:0002061 Lower limb spasticity OMIM:605280 HSPD1 3329 HP:0001347 Hyperreflexia OMIM:605280 HSPD1 3329 HP:0003487 Babinski sign OMIM:604403 SCN1A 6323 HP:0010819 Atonic seizures OMIM:604403 SCN1A 6323 HP:0003828 Variable expressivity OMIM:604403 SCN1A 6323 HP:0002373 Febrile seizures OMIM:604403 SCN1A 6323 HP:0002121 Absence seizures OMIM:604403 SCN1A 6323 HP:0002123 Generalized myoclonic seizures OMIM:604403 SCN1A 6323 HP:0010818 Generalized tonic seizures OMIM:604403 SCN1A 6323 HP:0006813 Hemiclonic seizures OMIM:604403 SCN1A 6323 HP:0011463 Childhood onset OMIM:604403 SCN1A 6323 HP:0002069 Generalized tonic-clonic seizures OMIM:604403 SCN1A 6323 HP:0000006 Autosomal dominant inheritance OMIM:272200 SUMF1 285362 HP:0004322 Short stature OMIM:272200 SUMF1 285362 HP:0001263 Global developmental delay OMIM:272200 SUMF1 285362 HP:0007957 Corneal opacity OMIM:272200 SUMF1 285362 HP:0001841 Preaxial foot polydactyly OMIM:272200 SUMF1 285362 HP:0002240 Hepatomegaly OMIM:272200 SUMF1 285362 HP:0000007 Autosomal recessive inheritance OMIM:272200 SUMF1 285362 HP:0007759 Opacification of the corneal stroma OMIM:272200 SUMF1 285362 HP:0000463 Anteverted nares OMIM:272200 SUMF1 285362 HP:0001376 Limitation of joint mobility OMIM:272200 SUMF1 285362 HP:0001744 Splenomegaly OMIM:272200 SUMF1 285362 HP:0001249 Intellectual disability OMIM:272200 SUMF1 285362 HP:0000648 Optic atrophy OMIM:272200 SUMF1 285362 HP:0001319 Neonatal hypotonia OMIM:272200 SUMF1 285362 HP:0002922 Increased CSF protein OMIM:272200 SUMF1 285362 HP:0100539 Periorbital edema OMIM:272200 SUMF1 285362 HP:0000505 Visual impairment OMIM:272200 SUMF1 285362 HP:0007703 Abnormal retinal pigmentation OMIM:272200 SUMF1 285362 HP:0002003 Large forehead OMIM:272200 SUMF1 285362 HP:0100543 Cognitive impairment OMIM:272200 SUMF1 285362 HP:0000256 Macrocephaly OMIM:272200 SUMF1 285362 HP:0002208 Coarse hair OMIM:272200 SUMF1 285362 HP:0002518 Abnormality of the periventricular white matter OMIM:272200 SUMF1 285362 HP:0008064 Ichthyosis OMIM:272200 SUMF1 285362 HP:0000252 Microcephaly OMIM:272200 SUMF1 285362 HP:0002376 Developmental regression OMIM:272200 SUMF1 285362 HP:0000280 Coarse facial features OMIM:272200 SUMF1 285362 HP:0011220 Prominent forehead OMIM:272200 SUMF1 285362 HP:0008479 Hypoplastic vertebral bodies OMIM:272200 SUMF1 285362 HP:0000574 Thick eyebrow OMIM:272200 SUMF1 285362 HP:0001251 Ataxia OMIM:272200 SUMF1 285362 HP:0000546 Retinal degeneration OMIM:272200 SUMF1 285362 HP:0010055 Broad hallux OMIM:272200 SUMF1 285362 HP:0002395 Lower limb hyperreflexia OMIM:272200 SUMF1 285362 HP:0008155 Mucopolysacchariduria OMIM:272200 SUMF1 285362 HP:0007305 CNS demyelination OMIM:272200 SUMF1 285362 HP:0000407 Sensorineural hearing impairment OMIM:272200 SUMF1 285362 HP:0002119 Ventriculomegaly OMIM:272200 SUMF1 285362 HP:0007307 Rapid neurologic deterioration OMIM:272200 SUMF1 285362 HP:0000238 Hydrocephalus OMIM:272200 SUMF1 285362 HP:0002059 Cerebral atrophy OMIM:272200 SUMF1 285362 HP:0001250 Seizures OMIM:272200 SUMF1 285362 HP:0011304 Broad thumb OMIM:272200 SUMF1 285362 HP:0012368 Flat face OMIM:272200 SUMF1 285362 HP:0011096 Peripheral demyelination OMIM:272200 SUMF1 285362 HP:0005280 Depressed nasal bridge OMIM:272200 SUMF1 285362 HP:0000943 Dysostosis multiplex OMIM:272200 SUMF1 285362 HP:0000365 Hearing impairment OMIM:272200 SUMF1 285362 HP:0001257 Spasticity OMIM:272200 SUMF1 285362 HP:0000762 Decreased nerve conduction velocity OMIM:272200 SUMF1 285362 HP:0000518 Cataract OMIM:272200 SUMF1 285362 HP:0009602 Abnormality of thumb phalanx OMIM:272200 SUMF1 285362 HP:0000288 Abnormality of the philtrum OMIM:272200 SUMF1 285362 HP:0001272 Cerebellar atrophy OMIM:603629 TECTA 7007 HP:0000407 Sensorineural hearing impairment OMIM:603629 TECTA 7007 HP:0000007 Autosomal recessive inheritance OMIM:139210 SMAD4 4089 HP:0000175 Cleft palate OMIM:139210 SMAD4 4089 HP:0100543 Cognitive impairment OMIM:139210 SMAD4 4089 HP:0008551 Microtia OMIM:139210 SMAD4 4089 HP:0000272 Malar flattening OMIM:139210 SMAD4 4089 HP:0009381 Short finger OMIM:139210 SMAD4 4089 HP:0002684 Thickened calvaria OMIM:139210 SMAD4 4089 HP:0002866 Hypoplastic iliac wing OMIM:139210 SMAD4 4089 HP:0000926 Platyspondyly OMIM:139210 SMAD4 4089 HP:0001671 Abnormality of the cardiac septa OMIM:139210 SMAD4 4089 HP:0001608 Abnormality of the voice OMIM:139210 SMAD4 4089 HP:0000470 Short neck OMIM:139210 SMAD4 4089 HP:0004322 Short stature OMIM:139210 SMAD4 4089 HP:0008070 Sparse hair OMIM:139210 SMAD4 4089 HP:0001156 Brachydactyly syndrome OMIM:139210 SMAD4 4089 HP:0004299 Hernia of the abdominal wall OMIM:139210 SMAD4 4089 HP:0000568 Microphthalmos OMIM:139210 SMAD4 4089 HP:0002213 Fine hair OMIM:139210 SMAD4 4089 HP:0000327 Hypoplasia of the maxilla OMIM:139210 SMAD4 4089 HP:0001249 Intellectual disability OMIM:139210 SMAD4 4089 HP:0003720 Generalized muscle hypertrophy OMIM:139210 SMAD4 4089 HP:0000944 Abnormality of the metaphyses OMIM:139210 SMAD4 4089 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:139210 SMAD4 4089 HP:0002093 Respiratory insufficiency OMIM:139210 SMAD4 4089 HP:0004493 Craniofacial hyperostosis OMIM:139210 SMAD4 4089 HP:0009466 Radial deviation of finger OMIM:139210 SMAD4 4089 HP:0004621 Enlarged vertebral pedicles OMIM:139210 SMAD4 4089 HP:0001072 Thickened skin OMIM:139210 SMAD4 4089 HP:0000508 Ptosis OMIM:139210 SMAD4 4089 HP:0000365 Hearing impairment OMIM:139210 SMAD4 4089 HP:0000581 Blepharophimosis OMIM:139210 SMAD4 4089 HP:0000826 Precocious puberty OMIM:139210 SMAD4 4089 HP:0001650 Aortic valve stenosis OMIM:139210 SMAD4 4089 HP:0001376 Limitation of joint mobility OMIM:139210 SMAD4 4089 HP:0000369 Low-set ears OMIM:139210 SMAD4 4089 HP:0000426 Prominent nasal bridge OMIM:139210 SMAD4 4089 HP:0001831 Short toe OMIM:139210 SMAD4 4089 HP:0003712 Skeletal muscle hypertrophy OMIM:139210 SMAD4 4089 HP:0001511 Intrauterine growth retardation OMIM:139210 SMAD4 4089 HP:0000322 Short philtrum OMIM:139210 SMAD4 4089 HP:0000233 Thin vermilion border OMIM:139210 SMAD4 4089 HP:0000772 Abnormality of the ribs OMIM:139210 SMAD4 4089 HP:0000303 Mandibular prognathia OMIM:139210 SMAD4 4089 HP:0000028 Cryptorchidism OMIM:139210 SMAD4 4089 HP:0000717 Autism OMIM:139210 SMAD4 4089 HP:0011800 Midface retrusion OMIM:139210 SMAD4 4089 HP:0000518 Cataract OMIM:139210 SMAD4 4089 HP:0001845 Overlapping toe OMIM:139210 SMAD4 4089 HP:0000708 Behavioral abnormality OMIM:139210 SMAD4 4089 HP:0000574 Thick eyebrow OMIM:139210 SMAD4 4089 HP:0003457 EMG abnormality OMIM:139210 SMAD4 4089 HP:0000486 Strabismus OMIM:139210 SMAD4 4089 HP:0000006 Autosomal dominant inheritance OMIM:139210 SMAD4 4089 HP:0030084 Clinodactyly OMIM:139210 SMAD4 4089 HP:0001251 Ataxia OMIM:139210 SMAD4 4089 HP:0012385 Camptodactyly OMIM:139210 SMAD4 4089 HP:0000316 Hypertelorism OMIM:139210 SMAD4 4089 HP:0000540 Hypermetropia OMIM:139210 SMAD4 4089 HP:0030053 Stiff skin OMIM:139210 SMAD4 4089 HP:0010579 Cone-shaped epiphysis OMIM:139210 SMAD4 4089 HP:0100335 Non-midline cleft lip OMIM:139210 SMAD4 4089 HP:0000885 Broad ribs OMIM:139210 SMAD4 4089 HP:0000160 Narrow mouth OMIM:139210 SMAD4 4089 HP:0004691 2-3 toe syndactyly OMIM:139210 SMAD4 4089 HP:0004894 Laryngotracheal stenosis OMIM:139210 SMAD4 4089 HP:0001698 Pericardial effusion OMIM:139210 SMAD4 4089 HP:0001643 Patent ductus arteriosus OMIM:139210 SMAD4 4089 HP:0001513 Obesity OMIM:139210 SMAD4 4089 HP:0000822 Hypertension OMIM:139210 SMAD4 4089 HP:0000219 Thin upper lip vermilion OMIM:139210 SMAD4 4089 HP:0000490 Deeply set eye OMIM:139210 SMAD4 4089 HP:0002948 Vertebral fusion OMIM:139210 SMAD4 4089 HP:0002878 Respiratory failure OMIM:139210 SMAD4 4089 HP:0003026 Short long bone OMIM:139210 SMAD4 4089 HP:0000252 Microcephaly OMIM:139210 SMAD4 4089 HP:0100627 Displacement of the external urethral meatus OMIM:139210 SMAD4 4089 HP:0001250 Seizures OMIM:139210 SMAD4 4089 HP:0000202 Oral cleft OMIM:139210 SMAD4 4089 HP:0001680 Coarctation of aorta OMIM:311040 ELK1 2002 HP:0001417 X-linked inheritance OMIM:311040 ELK1 2002 HP:0002664 Neoplasm OMIM:186580 NOD2 64127 HP:0200042 Skin ulcer OMIM:186580 NOD2 64127 HP:0000648 Optic atrophy OMIM:186580 NOD2 64127 HP:0000112 Nephropathy OMIM:186580 NOD2 64127 HP:0000217 Xerostomia OMIM:186580 NOD2 64127 HP:0001744 Splenomegaly OMIM:186580 NOD2 64127 HP:0100769 Synovitis OMIM:186580 NOD2 64127 HP:0000488 Retinopathy OMIM:186580 NOD2 64127 HP:0000518 Cataract OMIM:186580 NOD2 64127 HP:0001697 Abnormality of the pericardium OMIM:186580 NOD2 64127 HP:0000554 Uveitis OMIM:186580 NOD2 64127 HP:0001101 Iritis OMIM:186580 NOD2 64127 HP:0002716 Lymphadenopathy OMIM:186580 NOD2 64127 HP:0001392 Abnormality of the liver OMIM:186580 NOD2 64127 HP:0001034 Hypermelanotic macule OMIM:186580 NOD2 64127 HP:0002011 Morphological abnormality of the central nervous system OMIM:186580 NOD2 64127 HP:0005830 Flexion contracture of toe OMIM:186580 NOD2 64127 HP:0000958 Dry skin OMIM:186580 NOD2 64127 HP:0100654 Retrobulbar optic neuritis OMIM:186580 NOD2 64127 HP:0000613 Photophobia OMIM:186580 NOD2 64127 HP:0002829 Arthralgia OMIM:186580 NOD2 64127 HP:0000822 Hypertension OMIM:186580 NOD2 64127 HP:0009726 Renal neoplasm OMIM:186580 NOD2 64127 HP:0002633 Vasculitis OMIM:186580 NOD2 64127 HP:0001903 Anemia OMIM:186580 NOD2 64127 HP:0000598 Abnormality of the ear OMIM:186580 NOD2 64127 HP:0001139 Choroideremia OMIM:186580 NOD2 64127 HP:0010286 Abnormality of the salivary glands OMIM:186580 NOD2 64127 HP:0000988 Skin rash OMIM:186580 NOD2 64127 HP:0004370 Abnormality of temperature regulation OMIM:186580 NOD2 64127 HP:0000501 Glaucoma OMIM:186580 NOD2 64127 HP:0000964 Eczema OMIM:186580 NOD2 64127 HP:0007432 Intermittent generalized erythematous papular rash OMIM:186580 NOD2 64127 HP:0005111 Dilatation of the ascending aorta OMIM:186580 NOD2 64127 HP:0001386 Joint swelling OMIM:186580 NOD2 64127 HP:0000083 Renal insufficiency OMIM:186580 NOD2 64127 HP:0001933 Subcutaneous hemorrhage OMIM:186580 NOD2 64127 HP:0002092 Pulmonary hypertension OMIM:186580 NOD2 64127 HP:0100490 Camptodactyly of finger OMIM:186580 NOD2 64127 HP:0000505 Visual impairment OMIM:186580 NOD2 64127 HP:0001369 Arthritis OMIM:186580 NOD2 64127 HP:0008064 Ichthyosis OMIM:186580 NOD2 64127 HP:0010628 Facial palsy OMIM:186580 NOD2 64127 HP:0011505 Cystoid macular edema OMIM:186580 NOD2 64127 HP:0002093 Respiratory insufficiency OMIM:186580 NOD2 64127 HP:0007813 Nongranulomatous uveitis OMIM:186580 NOD2 64127 HP:0000585 Band keratopathy OMIM:186580 NOD2 64127 HP:0000006 Autosomal dominant inheritance OMIM:186580 NOD2 64127 HP:0001376 Limitation of joint mobility OMIM:186580 NOD2 64127 HP:0001291 Abnormality of the cranial nerves OMIM:252011 SDHA 6389 HP:0003546 Exercise intolerance OMIM:252011 SDHA 6389 HP:0008314 Decreased activity of mitochondrial complex II OMIM:252011 SDHA 6389 HP:0000007 Autosomal recessive inheritance OMIM:252011 SDHA 6389 HP:0001319 Neonatal hypotonia OMIM:252011 SDHA 6389 HP:0012240 Increased intramyocellular lipid droplets OMIM:252011 SDHA 6389 HP:0001336 Myoclonus OMIM:252011 SDHA 6389 HP:0001251 Ataxia OMIM:252011 SDHA 6389 HP:0002352 Leukoencephalopathy OMIM:252011 SDHA 6389 HP:0003487 Babinski sign OMIM:252011 SDHA 6389 HP:0001250 Seizures OMIM:252011 SDHA 6389 HP:0002376 Developmental regression OMIM:252011 SDHA 6389 HP:0001347 Hyperreflexia OMIM:252011 SDHA 6389 HP:0001639 Hypertrophic cardiomyopathy OMIM:252011 SDHA 6389 HP:0001371 Flexion contracture OMIM:252011 SDHA 6389 HP:0003200 Ragged-red muscle fibers OMIM:252011 SDHA 6389 HP:0006980 Progressive leukoencephalopathy OMIM:252011 SDHA 6389 HP:0004897 Stress/infection-induced lactic acidosis OMIM:252011 SDHA 6389 HP:0003593 Infantile onset OMIM:252011 SDHA 6389 HP:0100543 Cognitive impairment OMIM:252011 SDHA 6389 HP:0001257 Spasticity OMIM:252011 SDHA 6389 HP:0001332 Dystonia OMIM:252011 SDHA 6389 HP:0001644 Dilated cardiomyopathy OMIM:252011 SDHA 6389 HP:0004322 Short stature OMIM:252011 SDHA 6389 HP:0002151 Increased serum lactate OMIM:252011 SDHA 6389 HP:0003812 Phenotypic variability OMIM:252011 SDHA 6389 HP:0008316 Abnormal mitochondria in muscle tissue OMIM:252011 SDHA 6389 HP:0001324 Muscle weakness OMIM:252011 SDHAF1 644096 HP:0003546 Exercise intolerance OMIM:252011 SDHAF1 644096 HP:0008314 Decreased activity of mitochondrial complex II OMIM:252011 SDHAF1 644096 HP:0000007 Autosomal recessive inheritance OMIM:252011 SDHAF1 644096 HP:0001319 Neonatal hypotonia OMIM:252011 SDHAF1 644096 HP:0012240 Increased intramyocellular lipid droplets OMIM:252011 SDHAF1 644096 HP:0001336 Myoclonus OMIM:252011 SDHAF1 644096 HP:0001251 Ataxia OMIM:252011 SDHAF1 644096 HP:0002352 Leukoencephalopathy OMIM:252011 SDHAF1 644096 HP:0003487 Babinski sign OMIM:252011 SDHAF1 644096 HP:0001250 Seizures OMIM:252011 SDHAF1 644096 HP:0002376 Developmental regression OMIM:252011 SDHAF1 644096 HP:0001347 Hyperreflexia OMIM:252011 SDHAF1 644096 HP:0001639 Hypertrophic cardiomyopathy OMIM:252011 SDHAF1 644096 HP:0001371 Flexion contracture OMIM:252011 SDHAF1 644096 HP:0003200 Ragged-red muscle fibers OMIM:252011 SDHAF1 644096 HP:0006980 Progressive leukoencephalopathy OMIM:252011 SDHAF1 644096 HP:0004897 Stress/infection-induced lactic acidosis OMIM:252011 SDHAF1 644096 HP:0003593 Infantile onset OMIM:252011 SDHAF1 644096 HP:0100543 Cognitive impairment OMIM:252011 SDHAF1 644096 HP:0001257 Spasticity OMIM:252011 SDHAF1 644096 HP:0001332 Dystonia OMIM:252011 SDHAF1 644096 HP:0001644 Dilated cardiomyopathy OMIM:252011 SDHAF1 644096 HP:0004322 Short stature OMIM:252011 SDHAF1 644096 HP:0002151 Increased serum lactate OMIM:252011 SDHAF1 644096 HP:0003812 Phenotypic variability OMIM:252011 SDHAF1 644096 HP:0008316 Abnormal mitochondria in muscle tissue OMIM:252011 SDHAF1 644096 HP:0001324 Muscle weakness OMIM:615193 ACTN1 87 HP:0011273 Anisocytosis OMIM:615193 ACTN1 87 HP:0001873 Thrombocytopenia OMIM:615193 ACTN1 87 HP:0011877 Increased mean platelet volume OMIM:615193 ACTN1 87 HP:0000421 Epistaxis OMIM:615193 ACTN1 87 HP:0000006 Autosomal dominant inheritance OMIM:193700 MYH3 4621 HP:0002827 Hip dislocation OMIM:193700 MYH3 4621 HP:0000298 Mask-like facies OMIM:193700 MYH3 4621 HP:0001181 Adducted thumb OMIM:193700 MYH3 4621 HP:0006958 Abnormal auditory evoked potentials OMIM:193700 MYH3 4621 HP:0003044 Shoulder flexion contracture OMIM:193700 MYH3 4621 HP:0000343 Long philtrum OMIM:193700 MYH3 4621 HP:0000007 Autosomal recessive inheritance OMIM:193700 MYH3 4621 HP:0001272 Cerebellar atrophy OMIM:193700 MYH3 4621 HP:0002751 Kyphoscoliosis OMIM:193700 MYH3 4621 HP:0001838 Rocker bottom foot OMIM:193700 MYH3 4621 HP:0000023 Inguinal hernia OMIM:193700 MYH3 4621 HP:0001249 Intellectual disability OMIM:193700 MYH3 4621 HP:0012385 Camptodactyly OMIM:193700 MYH3 4621 HP:0002365 Hypoplasia of the brainstem OMIM:193700 MYH3 4621 HP:0003196 Short nose OMIM:193700 MYH3 4621 HP:0000470 Short neck OMIM:193700 MYH3 4621 HP:0009473 Joint contracture of the hand OMIM:193700 MYH3 4621 HP:0000303 Mandibular prognathia OMIM:193700 MYH3 4621 HP:0001508 Failure to thrive OMIM:193700 MYH3 4621 HP:0000951 Abnormality of the skin OMIM:193700 MYH3 4621 HP:0000028 Cryptorchidism OMIM:193700 MYH3 4621 HP:0001324 Muscle weakness OMIM:193700 MYH3 4621 HP:0000486 Strabismus OMIM:193700 MYH3 4621 HP:0000508 Ptosis OMIM:193700 MYH3 4621 HP:0008897 Postnatal growth retardation OMIM:193700 MYH3 4621 HP:0000346 Whistling appearance OMIM:193700 MYH3 4621 HP:0001945 Fever OMIM:193700 MYH3 4621 HP:0000286 Epicanthus OMIM:193700 MYH3 4621 HP:0011824 Chin with H-shaped crease OMIM:193700 MYH3 4621 HP:0001623 Breech presentation OMIM:193700 MYH3 4621 HP:0010751 Chin dimple OMIM:193700 MYH3 4621 HP:0000581 Blepharophimosis OMIM:193700 MYH3 4621 HP:0000218 High palate OMIM:193700 MYH3 4621 HP:0002047 Malignant hyperthermia OMIM:193700 MYH3 4621 HP:0000160 Narrow mouth OMIM:193700 MYH3 4621 HP:0001518 Small for gestational age OMIM:193700 MYH3 4621 HP:0000430 Underdeveloped nasal alae OMIM:193700 MYH3 4621 HP:0001611 Nasal speech OMIM:193700 MYH3 4621 HP:0000431 Wide nasal bridge OMIM:193700 MYH3 4621 HP:0001250 Seizures OMIM:193700 MYH3 4621 HP:0003298 Spina bifida occulta OMIM:193700 MYH3 4621 HP:0003273 Hip contracture OMIM:193700 MYH3 4621 HP:0005830 Flexion contracture of toe OMIM:193700 MYH3 4621 HP:0000272 Malar flattening OMIM:193700 MYH3 4621 HP:0001193 Ulnar deviation of the hand or of fingers of the hand OMIM:193700 MYH3 4621 HP:0000252 Microcephaly OMIM:193700 MYH3 4621 HP:0000490 Deeply set eye OMIM:193700 MYH3 4621 HP:0000006 Autosomal dominant inheritance OMIM:193700 MYH3 4621 HP:0012368 Flat face OMIM:193700 MYH3 4621 HP:0002804 Arthrogryposis multiplex congenita OMIM:193700 MYH3 4621 HP:0000506 Telecanthus OMIM:193700 MYH3 4621 HP:0001762 Talipes equinovarus OMIM:193700 MYH3 4621 HP:0006380 Knee flexion contracture OMIM:193700 MYH3 4621 HP:0011220 Prominent forehead OMIM:616170 MFSD8 256471 HP:0011504 Bull's eye maculopathy OMIM:616170 MFSD8 256471 HP:0000505 Visual impairment OMIM:616170 MFSD8 256471 HP:0000543 Optic disc pallor OMIM:610651 ERCC3 2071 HP:0001249 Intellectual disability OMIM:610651 ERCC3 2071 HP:0000518 Cataract OMIM:610651 ERCC3 2071 HP:0002119 Ventriculomegaly OMIM:610651 ERCC3 2071 HP:0001272 Cerebellar atrophy OMIM:610651 ERCC3 2071 HP:0000762 Decreased nerve conduction velocity OMIM:610651 ERCC3 2071 HP:0004334 Dermal atrophy OMIM:610651 ERCC3 2071 HP:0002671 Basal cell carcinoma OMIM:610651 ERCC3 2071 HP:0004322 Short stature OMIM:610651 ERCC3 2071 HP:0000580 Pigmentary retinopathy OMIM:610651 ERCC3 2071 HP:0000992 Cutaneous photosensitivity OMIM:610651 ERCC3 2071 HP:0005328 Progeroid facial appearance OMIM:610651 ERCC3 2071 HP:0000407 Sensorineural hearing impairment OMIM:610651 ERCC3 2071 HP:0001480 Freckling OMIM:610651 ERCC3 2071 HP:0012056 Cutaneous melanoma OMIM:610651 ERCC3 2071 HP:0001251 Ataxia OMIM:610651 ERCC3 2071 HP:0002135 Basal ganglia calcification OMIM:610651 ERCC3 2071 HP:0011400 Abnormal CNS myelination OMIM:610651 ERCC3 2071 HP:0001347 Hyperreflexia OMIM:610651 ERCC3 2071 HP:0000135 Hypogonadism OMIM:610651 ERCC3 2071 HP:0006739 Squamous cell carcinoma of the skin OMIM:610651 ERCC3 2071 HP:0000568 Microphthalmos OMIM:610651 ERCC3 2071 HP:0003224 Increased cellular sensitivity to UV light OMIM:610651 ERCC3 2071 HP:0000252 Microcephaly OMIM:610651 ERCC3 2071 HP:0000007 Autosomal recessive inheritance OMIM:610651 ERCC3 2071 HP:0000648 Optic atrophy OMIM:614162 STAT1 6772 HP:0000006 Autosomal dominant inheritance OMIM:614162 STAT1 6772 HP:0002728 Chronic mucocutaneous candidiasis OMIM:614162 STAT1 6772 HP:0000821 Hypothyroidism OMIM:614162 STAT1 6772 HP:0000823 Delayed puberty OMIM:614162 STAT1 6772 HP:0001890 Autoimmune hemolytic anemia OMIM:614162 STAT1 6772 HP:0002958 Immune dysregulation OMIM:614162 STAT1 6772 HP:0002014 Diarrhea OMIM:614162 STAT1 6772 HP:0002205 Recurrent respiratory infections OMIM:614162 STAT1 6772 HP:0000819 Diabetes mellitus OMIM:614162 STAT1 6772 HP:0011473 Villous atrophy OMIM:614162 STAT1 6772 HP:0000938 Osteopenia OMIM:614162 STAT1 6772 HP:0002721 Immunodeficiency OMIM:614162 STAT1 6772 HP:0004322 Short stature OMIM:614162 STAT1 6772 HP:0001888 Lymphopenia OMIM:614162 STAT1 6772 HP:0000964 Eczema OMIM:602772 EYS 346007 HP:0007737 Bony spicule pigmentary retinopathy OMIM:602772 EYS 346007 HP:0000510 Retinitis pigmentosa OMIM:602772 EYS 346007 HP:0000550 Abolished electroretinogram (ERG) OMIM:602772 EYS 346007 HP:0001133 Constricted visual fields OMIM:602772 EYS 346007 HP:0007843 Attenuation of retinal blood vessels OMIM:602772 EYS 346007 HP:0000662 Night blindness OMIM:602772 EYS 346007 HP:0000007 Autosomal recessive inheritance OMIM:613309 RPS26 6231 HP:0000405 Conductive hearing impairment OMIM:613309 RPS26 6231 HP:0004322 Short stature OMIM:613309 RPS26 6231 HP:0000086 Ectopic kidney OMIM:613309 RPS26 6231 HP:0001629 Ventricular septal defect OMIM:613309 RPS26 6231 HP:0000272 Malar flattening OMIM:613309 RPS26 6231 HP:0002880 Respiratory difficulties OMIM:613309 RPS26 6231 HP:0005321 Mandibulofacial dysostosis OMIM:613309 RPS26 6231 HP:0001972 Macrocytic anemia OMIM:613309 RPS26 6231 HP:0000413 Atresia of the external auditory canal OMIM:613309 RPS26 6231 HP:0000175 Cleft palate OMIM:613309 RPS26 6231 HP:0001896 Reticulocytopenia OMIM:613309 RPS26 6231 HP:0000358 Posteriorly rotated ears OMIM:613309 RPS26 6231 HP:0000453 Choanal atresia OMIM:613309 RPS26 6231 HP:0000776 Congenital diaphragmatic hernia OMIM:613309 RPS26 6231 HP:0000369 Low-set ears OMIM:613309 RPS26 6231 HP:0001643 Patent ductus arteriosus OMIM:613309 RPS26 6231 HP:0008551 Microtia OMIM:613309 RPS26 6231 HP:0000347 Micrognathia OMIM:610539 PSAP 5660 HP:0011813 Increased cerebral lipofuscin OMIM:610539 PSAP 5660 HP:0001250 Seizures OMIM:610539 PSAP 5660 HP:0001873 Thrombocytopenia OMIM:610539 PSAP 5660 HP:0001903 Anemia OMIM:610539 PSAP 5660 HP:0000938 Osteopenia OMIM:610539 PSAP 5660 HP:0004975 Erlenmeyer flask deformity of the femurs OMIM:610539 PSAP 5660 HP:0001336 Myoclonus OMIM:610539 PSAP 5660 HP:0000007 Autosomal recessive inheritance OMIM:610539 PSAP 5660 HP:0001433 Hepatosplenomegaly OMIM:220110 COX6B1 1340 HP:0001508 Failure to thrive OMIM:220110 COX6B1 1340 HP:0003688 Decreased activity of cytochrome C oxidase in muscle tissue OMIM:220110 COX6B1 1340 HP:0001639 Hypertrophic cardiomyopathy OMIM:220110 COX6B1 1340 HP:0003109 Hyperphosphaturia OMIM:220110 COX6B1 1340 HP:0003076 Glycosuria OMIM:220110 COX6B1 1340 HP:0001263 Global developmental delay OMIM:220110 COX6B1 1340 HP:0001252 Muscular hypotonia OMIM:220110 COX6B1 1340 HP:0001427 Mitochondrial inheritance OMIM:220110 COX6B1 1340 HP:0003355 Aminoaciduria OMIM:220110 COX6B1 1340 HP:0001270 Motor delay OMIM:220110 COX6B1 1340 HP:0001994 Renal Fanconi syndrome OMIM:220110 COX6B1 1340 HP:0001251 Ataxia OMIM:220110 COX6B1 1340 HP:0001250 Seizures OMIM:220110 COX6B1 1340 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:220110 COX6B1 1340 HP:0003546 Exercise intolerance OMIM:220110 COX6B1 1340 HP:0000508 Ptosis OMIM:220110 COX6B1 1340 HP:0002875 Exertional dyspnea OMIM:220110 COX6B1 1340 HP:0002151 Increased serum lactate OMIM:220110 COX6B1 1340 HP:0000648 Optic atrophy OMIM:220110 COX6B1 1340 HP:0002240 Hepatomegaly OMIM:220110 COX6B1 1340 HP:0003128 Lactic acidosis OMIM:220110 COX6B1 1340 HP:0001249 Intellectual disability OMIM:220110 COX6B1 1340 HP:0001410 Decreased liver function OMIM:220110 COX6B1 1340 HP:0002880 Respiratory difficulties OMIM:220110 COX6B1 1340 HP:0012240 Increased intramyocellular lipid droplets OMIM:220110 COX6B1 1340 HP:0000093 Proteinuria OMIM:220110 COX6B1 1340 HP:0001903 Anemia OMIM:220110 COX6B1 1340 HP:0006565 Increased hepatocellular lipid droplets OMIM:220110 COX6B1 1340 HP:0000007 Autosomal recessive inheritance OMIM:220110 COX6B1 1340 HP:0000407 Sensorineural hearing impairment OMIM:220110 COX6B1 1340 HP:0000124 Renal tubular dysfunction OMIM:220110 COX6B1 1340 HP:0002490 Increased CSF lactate OMIM:220110 COX6B1 1340 HP:0000580 Pigmentary retinopathy OMIM:220110 COX20 116228 HP:0001508 Failure to thrive OMIM:220110 COX20 116228 HP:0003688 Decreased activity of cytochrome C oxidase in muscle tissue OMIM:220110 COX20 116228 HP:0001639 Hypertrophic cardiomyopathy OMIM:220110 COX20 116228 HP:0003109 Hyperphosphaturia OMIM:220110 COX20 116228 HP:0003076 Glycosuria OMIM:220110 COX20 116228 HP:0001263 Global developmental delay OMIM:220110 COX20 116228 HP:0001252 Muscular hypotonia OMIM:220110 COX20 116228 HP:0001427 Mitochondrial inheritance OMIM:220110 COX20 116228 HP:0003355 Aminoaciduria OMIM:220110 COX20 116228 HP:0001270 Motor delay OMIM:220110 COX20 116228 HP:0001994 Renal Fanconi syndrome OMIM:220110 COX20 116228 HP:0001251 Ataxia OMIM:220110 COX20 116228 HP:0001250 Seizures OMIM:220110 COX20 116228 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:220110 COX20 116228 HP:0003546 Exercise intolerance OMIM:220110 COX20 116228 HP:0000508 Ptosis OMIM:220110 COX20 116228 HP:0002875 Exertional dyspnea OMIM:220110 COX20 116228 HP:0002151 Increased serum lactate OMIM:220110 COX20 116228 HP:0000648 Optic atrophy OMIM:220110 COX20 116228 HP:0002240 Hepatomegaly OMIM:220110 COX20 116228 HP:0003128 Lactic acidosis OMIM:220110 COX20 116228 HP:0001249 Intellectual disability OMIM:220110 COX20 116228 HP:0001410 Decreased liver function OMIM:220110 COX20 116228 HP:0002880 Respiratory difficulties OMIM:220110 COX20 116228 HP:0012240 Increased intramyocellular lipid droplets OMIM:220110 COX20 116228 HP:0000093 Proteinuria OMIM:220110 COX20 116228 HP:0001903 Anemia OMIM:220110 COX20 116228 HP:0006565 Increased hepatocellular lipid droplets OMIM:220110 COX20 116228 HP:0000007 Autosomal recessive inheritance OMIM:220110 COX20 116228 HP:0000407 Sensorineural hearing impairment OMIM:220110 COX20 116228 HP:0000124 Renal tubular dysfunction OMIM:220110 COX20 116228 HP:0002490 Increased CSF lactate OMIM:220110 COX20 116228 HP:0000580 Pigmentary retinopathy OMIM:220110 COX10 1352 HP:0001508 Failure to thrive OMIM:220110 COX10 1352 HP:0003688 Decreased activity of cytochrome C oxidase in muscle tissue OMIM:220110 COX10 1352 HP:0001639 Hypertrophic cardiomyopathy OMIM:220110 COX10 1352 HP:0003109 Hyperphosphaturia OMIM:220110 COX10 1352 HP:0003076 Glycosuria OMIM:220110 COX10 1352 HP:0001263 Global developmental delay OMIM:220110 COX10 1352 HP:0001252 Muscular hypotonia OMIM:220110 COX10 1352 HP:0001427 Mitochondrial inheritance OMIM:220110 COX10 1352 HP:0003355 Aminoaciduria OMIM:220110 COX10 1352 HP:0001270 Motor delay OMIM:220110 COX10 1352 HP:0001994 Renal Fanconi syndrome OMIM:220110 COX10 1352 HP:0001251 Ataxia OMIM:220110 COX10 1352 HP:0001250 Seizures OMIM:220110 COX10 1352 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:220110 COX10 1352 HP:0003546 Exercise intolerance OMIM:220110 COX10 1352 HP:0000508 Ptosis OMIM:220110 COX10 1352 HP:0002875 Exertional dyspnea OMIM:220110 COX10 1352 HP:0002151 Increased serum lactate OMIM:220110 COX10 1352 HP:0000648 Optic atrophy OMIM:220110 COX10 1352 HP:0002240 Hepatomegaly OMIM:220110 COX10 1352 HP:0003128 Lactic acidosis OMIM:220110 COX10 1352 HP:0001249 Intellectual disability OMIM:220110 COX10 1352 HP:0001410 Decreased liver function OMIM:220110 COX10 1352 HP:0002880 Respiratory difficulties OMIM:220110 COX10 1352 HP:0012240 Increased intramyocellular lipid droplets OMIM:220110 COX10 1352 HP:0000093 Proteinuria OMIM:220110 COX10 1352 HP:0001903 Anemia OMIM:220110 COX10 1352 HP:0006565 Increased hepatocellular lipid droplets OMIM:220110 COX10 1352 HP:0000007 Autosomal recessive inheritance OMIM:220110 COX10 1352 HP:0000407 Sensorineural hearing impairment OMIM:220110 COX10 1352 HP:0000124 Renal tubular dysfunction OMIM:220110 COX10 1352 HP:0002490 Increased CSF lactate OMIM:220110 COX10 1352 HP:0000580 Pigmentary retinopathy OMIM:220110 COX14 84987 HP:0001508 Failure to thrive OMIM:220110 COX14 84987 HP:0003688 Decreased activity of cytochrome C oxidase in muscle tissue OMIM:220110 COX14 84987 HP:0001639 Hypertrophic cardiomyopathy OMIM:220110 COX14 84987 HP:0003109 Hyperphosphaturia OMIM:220110 COX14 84987 HP:0003076 Glycosuria OMIM:220110 COX14 84987 HP:0001263 Global developmental delay OMIM:220110 COX14 84987 HP:0001252 Muscular hypotonia OMIM:220110 COX14 84987 HP:0001427 Mitochondrial inheritance OMIM:220110 COX14 84987 HP:0003355 Aminoaciduria OMIM:220110 COX14 84987 HP:0001270 Motor delay OMIM:220110 COX14 84987 HP:0001994 Renal Fanconi syndrome OMIM:220110 COX14 84987 HP:0001251 Ataxia OMIM:220110 COX14 84987 HP:0001250 Seizures OMIM:220110 COX14 84987 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:220110 COX14 84987 HP:0003546 Exercise intolerance OMIM:220110 COX14 84987 HP:0000508 Ptosis OMIM:220110 COX14 84987 HP:0002875 Exertional dyspnea OMIM:220110 COX14 84987 HP:0002151 Increased serum lactate OMIM:220110 COX14 84987 HP:0000648 Optic atrophy OMIM:220110 COX14 84987 HP:0002240 Hepatomegaly OMIM:220110 COX14 84987 HP:0003128 Lactic acidosis OMIM:220110 COX14 84987 HP:0001249 Intellectual disability OMIM:220110 COX14 84987 HP:0001410 Decreased liver function OMIM:220110 COX14 84987 HP:0002880 Respiratory difficulties OMIM:220110 COX14 84987 HP:0012240 Increased intramyocellular lipid droplets OMIM:220110 COX14 84987 HP:0000093 Proteinuria OMIM:220110 COX14 84987 HP:0001903 Anemia OMIM:220110 COX14 84987 HP:0006565 Increased hepatocellular lipid droplets OMIM:220110 COX14 84987 HP:0000007 Autosomal recessive inheritance OMIM:220110 COX14 84987 HP:0000407 Sensorineural hearing impairment OMIM:220110 COX14 84987 HP:0000124 Renal tubular dysfunction OMIM:220110 COX14 84987 HP:0002490 Increased CSF lactate OMIM:220110 COX14 84987 HP:0000580 Pigmentary retinopathy OMIM:220110 FASTKD2 22868 HP:0001508 Failure to thrive OMIM:220110 FASTKD2 22868 HP:0003688 Decreased activity of cytochrome C oxidase in muscle tissue OMIM:220110 FASTKD2 22868 HP:0001639 Hypertrophic cardiomyopathy OMIM:220110 FASTKD2 22868 HP:0003109 Hyperphosphaturia OMIM:220110 FASTKD2 22868 HP:0003076 Glycosuria OMIM:220110 FASTKD2 22868 HP:0001263 Global developmental delay OMIM:220110 FASTKD2 22868 HP:0001252 Muscular hypotonia OMIM:220110 FASTKD2 22868 HP:0001427 Mitochondrial inheritance OMIM:220110 FASTKD2 22868 HP:0003355 Aminoaciduria OMIM:220110 FASTKD2 22868 HP:0001270 Motor delay OMIM:220110 FASTKD2 22868 HP:0001994 Renal Fanconi syndrome OMIM:220110 FASTKD2 22868 HP:0001251 Ataxia OMIM:220110 FASTKD2 22868 HP:0001250 Seizures OMIM:220110 FASTKD2 22868 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:220110 FASTKD2 22868 HP:0003546 Exercise intolerance OMIM:220110 FASTKD2 22868 HP:0000508 Ptosis OMIM:220110 FASTKD2 22868 HP:0002875 Exertional dyspnea OMIM:220110 FASTKD2 22868 HP:0002151 Increased serum lactate OMIM:220110 FASTKD2 22868 HP:0000648 Optic atrophy OMIM:220110 FASTKD2 22868 HP:0002240 Hepatomegaly OMIM:220110 FASTKD2 22868 HP:0003128 Lactic acidosis OMIM:220110 FASTKD2 22868 HP:0001249 Intellectual disability OMIM:220110 FASTKD2 22868 HP:0001410 Decreased liver function OMIM:220110 FASTKD2 22868 HP:0002880 Respiratory difficulties OMIM:220110 FASTKD2 22868 HP:0012240 Increased intramyocellular lipid droplets OMIM:220110 FASTKD2 22868 HP:0000093 Proteinuria OMIM:220110 FASTKD2 22868 HP:0001903 Anemia OMIM:220110 FASTKD2 22868 HP:0006565 Increased hepatocellular lipid droplets OMIM:220110 FASTKD2 22868 HP:0000007 Autosomal recessive inheritance OMIM:220110 FASTKD2 22868 HP:0000407 Sensorineural hearing impairment OMIM:220110 FASTKD2 22868 HP:0000124 Renal tubular dysfunction OMIM:220110 FASTKD2 22868 HP:0002490 Increased CSF lactate OMIM:220110 FASTKD2 22868 HP:0000580 Pigmentary retinopathy OMIM:220110 TACO1 51204 HP:0001508 Failure to thrive OMIM:220110 TACO1 51204 HP:0003688 Decreased activity of cytochrome C oxidase in muscle tissue OMIM:220110 TACO1 51204 HP:0001639 Hypertrophic cardiomyopathy OMIM:220110 TACO1 51204 HP:0003109 Hyperphosphaturia OMIM:220110 TACO1 51204 HP:0003076 Glycosuria OMIM:220110 TACO1 51204 HP:0001263 Global developmental delay OMIM:220110 TACO1 51204 HP:0001252 Muscular hypotonia OMIM:220110 TACO1 51204 HP:0001427 Mitochondrial inheritance OMIM:220110 TACO1 51204 HP:0003355 Aminoaciduria OMIM:220110 TACO1 51204 HP:0001270 Motor delay OMIM:220110 TACO1 51204 HP:0001994 Renal Fanconi syndrome OMIM:220110 TACO1 51204 HP:0001251 Ataxia OMIM:220110 TACO1 51204 HP:0001250 Seizures OMIM:220110 TACO1 51204 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:220110 TACO1 51204 HP:0003546 Exercise intolerance OMIM:220110 TACO1 51204 HP:0000508 Ptosis OMIM:220110 TACO1 51204 HP:0002875 Exertional dyspnea OMIM:220110 TACO1 51204 HP:0002151 Increased serum lactate OMIM:220110 TACO1 51204 HP:0000648 Optic atrophy OMIM:220110 TACO1 51204 HP:0002240 Hepatomegaly OMIM:220110 TACO1 51204 HP:0003128 Lactic acidosis OMIM:220110 TACO1 51204 HP:0001249 Intellectual disability OMIM:220110 TACO1 51204 HP:0001410 Decreased liver function OMIM:220110 TACO1 51204 HP:0002880 Respiratory difficulties OMIM:220110 TACO1 51204 HP:0012240 Increased intramyocellular lipid droplets OMIM:220110 TACO1 51204 HP:0000093 Proteinuria OMIM:220110 TACO1 51204 HP:0001903 Anemia OMIM:220110 TACO1 51204 HP:0006565 Increased hepatocellular lipid droplets OMIM:220110 TACO1 51204 HP:0000007 Autosomal recessive inheritance OMIM:220110 TACO1 51204 HP:0000407 Sensorineural hearing impairment OMIM:220110 TACO1 51204 HP:0000124 Renal tubular dysfunction OMIM:220110 TACO1 51204 HP:0002490 Increased CSF lactate OMIM:220110 TACO1 51204 HP:0000580 Pigmentary retinopathy OMIM:220110 COA5 493753 HP:0001508 Failure to thrive OMIM:220110 COA5 493753 HP:0003688 Decreased activity of cytochrome C oxidase in muscle tissue OMIM:220110 COA5 493753 HP:0001639 Hypertrophic cardiomyopathy OMIM:220110 COA5 493753 HP:0003109 Hyperphosphaturia OMIM:220110 COA5 493753 HP:0003076 Glycosuria OMIM:220110 COA5 493753 HP:0001263 Global developmental delay OMIM:220110 COA5 493753 HP:0001252 Muscular hypotonia OMIM:220110 COA5 493753 HP:0001427 Mitochondrial inheritance OMIM:220110 COA5 493753 HP:0003355 Aminoaciduria OMIM:220110 COA5 493753 HP:0001270 Motor delay OMIM:220110 COA5 493753 HP:0001994 Renal Fanconi syndrome OMIM:220110 COA5 493753 HP:0001251 Ataxia OMIM:220110 COA5 493753 HP:0001250 Seizures OMIM:220110 COA5 493753 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:220110 COA5 493753 HP:0003546 Exercise intolerance OMIM:220110 COA5 493753 HP:0000508 Ptosis OMIM:220110 COA5 493753 HP:0002875 Exertional dyspnea OMIM:220110 COA5 493753 HP:0002151 Increased serum lactate OMIM:220110 COA5 493753 HP:0000648 Optic atrophy OMIM:220110 COA5 493753 HP:0002240 Hepatomegaly OMIM:220110 COA5 493753 HP:0003128 Lactic acidosis OMIM:220110 COA5 493753 HP:0001249 Intellectual disability OMIM:220110 COA5 493753 HP:0001410 Decreased liver function OMIM:220110 COA5 493753 HP:0002880 Respiratory difficulties OMIM:220110 COA5 493753 HP:0012240 Increased intramyocellular lipid droplets OMIM:220110 COA5 493753 HP:0000093 Proteinuria OMIM:220110 COA5 493753 HP:0001903 Anemia OMIM:220110 COA5 493753 HP:0006565 Increased hepatocellular lipid droplets OMIM:220110 COA5 493753 HP:0000007 Autosomal recessive inheritance OMIM:220110 COA5 493753 HP:0000407 Sensorineural hearing impairment OMIM:220110 COA5 493753 HP:0000124 Renal tubular dysfunction OMIM:220110 COA5 493753 HP:0002490 Increased CSF lactate OMIM:220110 COA5 493753 HP:0000580 Pigmentary retinopathy OMIM:220110 PET100 100131801 HP:0001508 Failure to thrive OMIM:220110 PET100 100131801 HP:0003688 Decreased activity of cytochrome C oxidase in muscle tissue OMIM:220110 PET100 100131801 HP:0001639 Hypertrophic cardiomyopathy OMIM:220110 PET100 100131801 HP:0003109 Hyperphosphaturia OMIM:220110 PET100 100131801 HP:0003076 Glycosuria OMIM:220110 PET100 100131801 HP:0001263 Global developmental delay OMIM:220110 PET100 100131801 HP:0001252 Muscular hypotonia OMIM:220110 PET100 100131801 HP:0001427 Mitochondrial inheritance OMIM:220110 PET100 100131801 HP:0003355 Aminoaciduria OMIM:220110 PET100 100131801 HP:0001270 Motor delay OMIM:220110 PET100 100131801 HP:0001994 Renal Fanconi syndrome OMIM:220110 PET100 100131801 HP:0001251 Ataxia OMIM:220110 PET100 100131801 HP:0001250 Seizures OMIM:220110 PET100 100131801 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:220110 PET100 100131801 HP:0003546 Exercise intolerance OMIM:220110 PET100 100131801 HP:0000508 Ptosis OMIM:220110 PET100 100131801 HP:0002875 Exertional dyspnea OMIM:220110 PET100 100131801 HP:0002151 Increased serum lactate OMIM:220110 PET100 100131801 HP:0000648 Optic atrophy OMIM:220110 PET100 100131801 HP:0002240 Hepatomegaly OMIM:220110 PET100 100131801 HP:0003128 Lactic acidosis OMIM:220110 PET100 100131801 HP:0001249 Intellectual disability OMIM:220110 PET100 100131801 HP:0001410 Decreased liver function OMIM:220110 PET100 100131801 HP:0002880 Respiratory difficulties OMIM:220110 PET100 100131801 HP:0012240 Increased intramyocellular lipid droplets OMIM:220110 PET100 100131801 HP:0000093 Proteinuria OMIM:220110 PET100 100131801 HP:0001903 Anemia OMIM:220110 PET100 100131801 HP:0006565 Increased hepatocellular lipid droplets OMIM:220110 PET100 100131801 HP:0000007 Autosomal recessive inheritance OMIM:220110 PET100 100131801 HP:0000407 Sensorineural hearing impairment OMIM:220110 PET100 100131801 HP:0000124 Renal tubular dysfunction OMIM:220110 PET100 100131801 HP:0002490 Increased CSF lactate OMIM:220110 PET100 100131801 HP:0000580 Pigmentary retinopathy OMIM:220110 APOPT1 84334 HP:0001508 Failure to thrive OMIM:220110 APOPT1 84334 HP:0003688 Decreased activity of cytochrome C oxidase in muscle tissue OMIM:220110 APOPT1 84334 HP:0001639 Hypertrophic cardiomyopathy OMIM:220110 APOPT1 84334 HP:0003109 Hyperphosphaturia OMIM:220110 APOPT1 84334 HP:0003076 Glycosuria OMIM:220110 APOPT1 84334 HP:0001263 Global developmental delay OMIM:220110 APOPT1 84334 HP:0001252 Muscular hypotonia OMIM:220110 APOPT1 84334 HP:0001427 Mitochondrial inheritance OMIM:220110 APOPT1 84334 HP:0003355 Aminoaciduria OMIM:220110 APOPT1 84334 HP:0001270 Motor delay OMIM:220110 APOPT1 84334 HP:0001994 Renal Fanconi syndrome OMIM:220110 APOPT1 84334 HP:0001251 Ataxia OMIM:220110 APOPT1 84334 HP:0001250 Seizures OMIM:220110 APOPT1 84334 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:220110 APOPT1 84334 HP:0003546 Exercise intolerance OMIM:220110 APOPT1 84334 HP:0000508 Ptosis OMIM:220110 APOPT1 84334 HP:0002875 Exertional dyspnea OMIM:220110 APOPT1 84334 HP:0002151 Increased serum lactate OMIM:220110 APOPT1 84334 HP:0000648 Optic atrophy OMIM:220110 APOPT1 84334 HP:0002240 Hepatomegaly OMIM:220110 APOPT1 84334 HP:0003128 Lactic acidosis OMIM:220110 APOPT1 84334 HP:0001249 Intellectual disability OMIM:220110 APOPT1 84334 HP:0001410 Decreased liver function OMIM:220110 APOPT1 84334 HP:0002880 Respiratory difficulties OMIM:220110 APOPT1 84334 HP:0012240 Increased intramyocellular lipid droplets OMIM:220110 APOPT1 84334 HP:0000093 Proteinuria OMIM:220110 APOPT1 84334 HP:0001903 Anemia OMIM:220110 APOPT1 84334 HP:0006565 Increased hepatocellular lipid droplets OMIM:220110 APOPT1 84334 HP:0000007 Autosomal recessive inheritance OMIM:220110 APOPT1 84334 HP:0000407 Sensorineural hearing impairment OMIM:220110 APOPT1 84334 HP:0000124 Renal tubular dysfunction OMIM:220110 APOPT1 84334 HP:0002490 Increased CSF lactate OMIM:220110 APOPT1 84334 HP:0000580 Pigmentary retinopathy OMIM:606164 RPS28 6234 HP:0001972 Macrocytic anemia OMIM:606164 RPS28 6234 HP:0008551 Microtia OMIM:606164 RPS28 6234 HP:0001263 Global developmental delay OMIM:606164 RPS28 6234 HP:0004322 Short stature OMIM:606164 RPS28 6234 HP:0011800 Midface retrusion OMIM:606164 RPS28 6234 HP:0000494 Downslanted palpebral fissures OMIM:606164 RPS28 6234 HP:0000347 Micrognathia OMIM:608627 VAPB 9217 HP:0003323 Progressive muscle weakness OMIM:608627 VAPB 9217 HP:0002380 Fasciculations OMIM:608627 VAPB 9217 HP:0000006 Autosomal dominant inheritance OMIM:608627 VAPB 9217 HP:0002062 Morphological abnormality of the pyramidal tract OMIM:608627 VAPB 9217 HP:0002015 Dysphagia OMIM:608627 VAPB 9217 HP:0001284 Areflexia OMIM:608627 VAPB 9217 HP:0002460 Distal muscle weakness OMIM:608627 VAPB 9217 HP:0003701 Proximal muscle weakness OMIM:608627 VAPB 9217 HP:0002174 Postural tremor OMIM:608627 VAPB 9217 HP:0007354 Amyotrophic lateral sclerosis OMIM:608627 VAPB 9217 HP:0002529 Neuronal loss in central nervous system OMIM:608627 VAPB 9217 HP:0003394 Muscle cramps OMIM:608627 VAPB 9217 HP:0003202 Skeletal muscle atrophy OMIM:207410 FGFR2 2263 HP:0000453 Choanal atresia OMIM:207410 FGFR2 2263 HP:0000343 Long philtrum OMIM:207410 FGFR2 2263 HP:0002564 Malformation of the heart and great vessels OMIM:207410 FGFR2 2263 HP:0003041 Humeroradial synostosis OMIM:207410 FGFR2 2263 HP:0009891 Underdeveloped supraorbital ridges OMIM:207410 FGFR2 2263 HP:0001363 Craniosynostosis OMIM:207410 FGFR2 2263 HP:0000463 Anteverted nares OMIM:207410 FGFR2 2263 HP:0000377 Abnormality of the pinna OMIM:207410 FGFR2 2263 HP:0000520 Proptosis OMIM:207410 FGFR2 2263 HP:0000248 Brachycephaly OMIM:207410 FGFR2 2263 HP:0000316 Hypertelorism OMIM:207410 FGFR2 2263 HP:0005280 Depressed nasal bridge OMIM:207410 FGFR2 2263 HP:0002007 Frontal bossing OMIM:207410 FGFR2 2263 HP:0000494 Downslanted palpebral fissures OMIM:207410 FGFR2 2263 HP:0000063 Fused labia minora OMIM:207410 FGFR2 2263 HP:0010669 Cheekbone underdevelopment OMIM:207410 FGFR2 2263 HP:0000175 Cleft palate OMIM:207410 FGFR2 2263 HP:0012385 Camptodactyly OMIM:207410 FGFR2 2263 HP:0003196 Short nose OMIM:207410 FGFR2 2263 HP:0001166 Arachnodactyly OMIM:207410 FGFR2 2263 HP:0001838 Rocker bottom foot OMIM:207410 FGFR2 2263 HP:0100490 Camptodactyly of finger OMIM:207410 FGFR2 2263 HP:0000486 Strabismus OMIM:207410 FGFR2 2263 HP:0000160 Narrow mouth OMIM:207410 FGFR2 2263 HP:0002823 Abnormality of the femur OMIM:207410 FGFR2 2263 HP:0000238 Hydrocephalus OMIM:207410 FGFR2 2263 HP:0003031 Ulnar bowing OMIM:207410 FGFR2 2263 HP:0000452 Choanal stenosis OMIM:207410 FGFR2 2263 HP:0000007 Autosomal recessive inheritance OMIM:207410 FGFR2 2263 HP:0004440 Coronal craniosynostosis OMIM:207410 FGFR2 2263 HP:0000059 Hypoplastic labia majora OMIM:207410 FGFR2 2263 HP:0004443 Lambdoidal craniosynostosis OMIM:207410 FGFR2 2263 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:207410 FGFR2 2263 HP:0002757 Recurrent fractures OMIM:207410 FGFR2 2263 HP:0011800 Midface retrusion OMIM:207410 FGFR2 2263 HP:0000402 Stenosis of the external auditory canal OMIM:207410 FGFR2 2263 HP:0000148 Vaginal atresia OMIM:207410 FGFR2 2263 HP:0002980 Femoral bowing OMIM:207410 FGFR2 2263 HP:0000774 Narrow chest OMIM:207410 FGFR2 2263 HP:0000772 Abnormality of the ribs OMIM:207410 FGFR2 2263 HP:0002781 Upper airway obstruction OMIM:207410 FGFR2 2263 HP:0001376 Limitation of joint mobility OMIM:207410 FGFR2 2263 HP:0000079 Abnormality of the urinary system OMIM:207410 FGFR2 2263 HP:0001883 Talipes OMIM:207410 FGFR2 2263 HP:0012210 Abnormal renal morphology OMIM:207410 FGFR2 2263 HP:0000368 Low-set, posteriorly rotated ears OMIM:207410 FGFR2 2263 HP:0000272 Malar flattening OMIM:207410 FGFR2 2263 HP:0001249 Intellectual disability OMIM:207410 FGFR2 2263 HP:0001631 Defect in the atrial septum OMIM:207410 FGFR2 2263 HP:0000260 Wide anterior fontanel OMIM:207410 FGFR2 2263 HP:0003275 Narrow pelvis bone OMIM:205100 ALS2 57679 HP:0002366 Abnormal lower motor neuron morphology OMIM:205100 ALS2 57679 HP:0003487 Babinski sign OMIM:205100 ALS2 57679 HP:0001332 Dystonia OMIM:205100 ALS2 57679 HP:0002307 Drooling OMIM:205100 ALS2 57679 HP:0002193 Pseudobulbar behavioral symptoms OMIM:205100 ALS2 57679 HP:0002425 Anarthria OMIM:205100 ALS2 57679 HP:0003444 EMG: chronic denervation signs OMIM:205100 ALS2 57679 HP:0000183 Difficulty in tongue movements OMIM:205100 ALS2 57679 HP:0002064 Spastic gait OMIM:205100 ALS2 57679 HP:0002127 Abnormal upper motor neuron morphology OMIM:205100 ALS2 57679 HP:0002015 Dysphagia OMIM:205100 ALS2 57679 HP:0009130 Hand muscle atrophy OMIM:205100 ALS2 57679 HP:0007354 Amyotrophic lateral sclerosis OMIM:205100 ALS2 57679 HP:0002501 Spasticity of pharyngeal muscles OMIM:205100 ALS2 57679 HP:0000007 Autosomal recessive inheritance OMIM:205100 ALS2 57679 HP:0002491 Spasticity of facial muscles OMIM:205100 ALS2 57679 HP:0001285 Spastic tetraparesis OMIM:205100 ALS2 57679 HP:0003677 Slow progression OMIM:205100 ALS2 57679 HP:0002464 Spastic dysarthria OMIM:205100 ALS2 57679 HP:0001347 Hyperreflexia OMIM:172700 PSEN1 5663 HP:0000748 Inappropriate laughter OMIM:172700 PSEN1 5663 HP:0010529 Echolalia OMIM:172700 PSEN1 5663 HP:0002145 Frontotemporal dementia OMIM:172700 PSEN1 5663 HP:0002591 Polyphagia OMIM:172700 PSEN1 5663 HP:0000006 Autosomal dominant inheritance OMIM:172700 PSEN1 5663 HP:0002171 Gliosis OMIM:172700 PSEN1 5663 HP:0003745 Sporadic OMIM:172700 PSEN1 5663 HP:0030223 Perseveration OMIM:172700 PSEN1 5663 HP:0000733 Stereotypic behavior OMIM:172700 PSEN1 5663 HP:0000751 Personality changes OMIM:172700 PSEN1 5663 HP:0002476 Primitive reflexes (palmomental, snout, glabellar) OMIM:172700 PSEN1 5663 HP:0000741 Apathy OMIM:172700 PSEN1 5663 HP:0000737 Irritability OMIM:172700 PSEN1 5663 HP:0002463 Language impairment OMIM:172700 PSEN1 5663 HP:0000710 Hyperorality OMIM:172700 PSEN1 5663 HP:0030213 Emotional blunting OMIM:172700 PSEN1 5663 HP:0002529 Neuronal loss in central nervous system OMIM:172700 PSEN1 5663 HP:0000734 Disinhibition OMIM:172700 MAPT 4137 HP:0000748 Inappropriate laughter OMIM:172700 MAPT 4137 HP:0010529 Echolalia OMIM:172700 MAPT 4137 HP:0002145 Frontotemporal dementia OMIM:172700 MAPT 4137 HP:0002591 Polyphagia OMIM:172700 MAPT 4137 HP:0000006 Autosomal dominant inheritance OMIM:172700 MAPT 4137 HP:0002171 Gliosis OMIM:172700 MAPT 4137 HP:0003745 Sporadic OMIM:172700 MAPT 4137 HP:0030223 Perseveration OMIM:172700 MAPT 4137 HP:0000733 Stereotypic behavior OMIM:172700 MAPT 4137 HP:0000751 Personality changes OMIM:172700 MAPT 4137 HP:0002476 Primitive reflexes (palmomental, snout, glabellar) OMIM:172700 MAPT 4137 HP:0000741 Apathy OMIM:172700 MAPT 4137 HP:0000737 Irritability OMIM:172700 MAPT 4137 HP:0002463 Language impairment OMIM:172700 MAPT 4137 HP:0000710 Hyperorality OMIM:172700 MAPT 4137 HP:0030213 Emotional blunting OMIM:172700 MAPT 4137 HP:0002529 Neuronal loss in central nervous system OMIM:172700 MAPT 4137 HP:0000734 Disinhibition ORPHANET:144 MSH2 4436 HP:0006753 Neoplasm of the stomach ORPHANET:144 MSH2 4436 HP:0002240 Hepatomegaly ORPHANET:144 MSH2 4436 HP:0004375 Neoplasm of the nervous system ORPHANET:144 MSH2 4436 HP:0001541 Ascites ORPHANET:144 MSH2 4436 HP:0002894 Neoplasm of the pancreas ORPHANET:144 MSH2 4436 HP:0002024 Malabsorption ORPHANET:144 MSH2 4436 HP:0005214 Intestinal obstruction ORPHANET:144 MSH2 4436 HP:0009726 Renal neoplasm ORPHANET:144 MSH2 4436 HP:0002019 Constipation ORPHANET:144 MSH2 4436 HP:0002017 Nausea and vomiting ORPHANET:144 MSH2 4436 HP:0100833 Neoplasm of the small intestine ORPHANET:144 MSH2 4436 HP:0100273 Neoplasm of the colon ORPHANET:144 MSH2 4436 HP:0100743 Neoplasm of the rectum ORPHANET:144 MSH2 4436 HP:0000010 Recurrent urinary tract infections ORPHANET:144 MSH2 4436 HP:0010784 Uterine neoplasm ORPHANET:144 MSH2 4436 HP:0001824 Weight loss ORPHANET:144 MSH2 4436 HP:0002239 Gastrointestinal hemorrhage ORPHANET:144 MSH2 4436 HP:0001903 Anemia ORPHANET:144 MSH2 4436 HP:0100574 Biliary tract neoplasm ORPHANET:144 MSH2 4436 HP:0100615 Ovarian neoplasm ORPHANET:144 LRRFIP2 9209 HP:0006753 Neoplasm of the stomach ORPHANET:144 LRRFIP2 9209 HP:0002240 Hepatomegaly ORPHANET:144 LRRFIP2 9209 HP:0004375 Neoplasm of the nervous system ORPHANET:144 LRRFIP2 9209 HP:0001541 Ascites ORPHANET:144 LRRFIP2 9209 HP:0002894 Neoplasm of the pancreas ORPHANET:144 LRRFIP2 9209 HP:0002024 Malabsorption ORPHANET:144 LRRFIP2 9209 HP:0005214 Intestinal obstruction ORPHANET:144 LRRFIP2 9209 HP:0009726 Renal neoplasm ORPHANET:144 LRRFIP2 9209 HP:0002019 Constipation ORPHANET:144 LRRFIP2 9209 HP:0002017 Nausea and vomiting ORPHANET:144 LRRFIP2 9209 HP:0100833 Neoplasm of the small intestine ORPHANET:144 LRRFIP2 9209 HP:0100273 Neoplasm of the colon ORPHANET:144 LRRFIP2 9209 HP:0100743 Neoplasm of the rectum ORPHANET:144 LRRFIP2 9209 HP:0000010 Recurrent urinary tract infections ORPHANET:144 LRRFIP2 9209 HP:0010784 Uterine neoplasm ORPHANET:144 LRRFIP2 9209 HP:0001824 Weight loss ORPHANET:144 LRRFIP2 9209 HP:0002239 Gastrointestinal hemorrhage ORPHANET:144 LRRFIP2 9209 HP:0001903 Anemia ORPHANET:144 LRRFIP2 9209 HP:0100574 Biliary tract neoplasm ORPHANET:144 LRRFIP2 9209 HP:0100615 Ovarian neoplasm ORPHANET:144 MSH6 2956 HP:0006753 Neoplasm of the stomach ORPHANET:144 MSH6 2956 HP:0002240 Hepatomegaly ORPHANET:144 MSH6 2956 HP:0004375 Neoplasm of the nervous system ORPHANET:144 MSH6 2956 HP:0001541 Ascites ORPHANET:144 MSH6 2956 HP:0002894 Neoplasm of the pancreas ORPHANET:144 MSH6 2956 HP:0002024 Malabsorption ORPHANET:144 MSH6 2956 HP:0005214 Intestinal obstruction ORPHANET:144 MSH6 2956 HP:0009726 Renal neoplasm ORPHANET:144 MSH6 2956 HP:0002019 Constipation ORPHANET:144 MSH6 2956 HP:0002017 Nausea and vomiting ORPHANET:144 MSH6 2956 HP:0100833 Neoplasm of the small intestine ORPHANET:144 MSH6 2956 HP:0100273 Neoplasm of the colon ORPHANET:144 MSH6 2956 HP:0100743 Neoplasm of the rectum ORPHANET:144 MSH6 2956 HP:0000010 Recurrent urinary tract infections ORPHANET:144 MSH6 2956 HP:0010784 Uterine neoplasm ORPHANET:144 MSH6 2956 HP:0001824 Weight loss ORPHANET:144 MSH6 2956 HP:0002239 Gastrointestinal hemorrhage ORPHANET:144 MSH6 2956 HP:0001903 Anemia ORPHANET:144 MSH6 2956 HP:0100574 Biliary tract neoplasm ORPHANET:144 MSH6 2956 HP:0100615 Ovarian neoplasm ORPHANET:144 RPS20 6224 HP:0006753 Neoplasm of the stomach ORPHANET:144 RPS20 6224 HP:0002240 Hepatomegaly ORPHANET:144 RPS20 6224 HP:0004375 Neoplasm of the nervous system ORPHANET:144 RPS20 6224 HP:0001541 Ascites ORPHANET:144 RPS20 6224 HP:0002894 Neoplasm of the pancreas ORPHANET:144 RPS20 6224 HP:0002024 Malabsorption ORPHANET:144 RPS20 6224 HP:0005214 Intestinal obstruction ORPHANET:144 RPS20 6224 HP:0009726 Renal neoplasm ORPHANET:144 RPS20 6224 HP:0002019 Constipation ORPHANET:144 RPS20 6224 HP:0002017 Nausea and vomiting ORPHANET:144 RPS20 6224 HP:0100833 Neoplasm of the small intestine ORPHANET:144 RPS20 6224 HP:0100273 Neoplasm of the colon ORPHANET:144 RPS20 6224 HP:0100743 Neoplasm of the rectum ORPHANET:144 RPS20 6224 HP:0000010 Recurrent urinary tract infections ORPHANET:144 RPS20 6224 HP:0010784 Uterine neoplasm ORPHANET:144 RPS20 6224 HP:0001824 Weight loss ORPHANET:144 RPS20 6224 HP:0002239 Gastrointestinal hemorrhage ORPHANET:144 RPS20 6224 HP:0001903 Anemia ORPHANET:144 RPS20 6224 HP:0100574 Biliary tract neoplasm ORPHANET:144 RPS20 6224 HP:0100615 Ovarian neoplasm ORPHANET:144 TGFBR2 7048 HP:0006753 Neoplasm of the stomach ORPHANET:144 TGFBR2 7048 HP:0002240 Hepatomegaly ORPHANET:144 TGFBR2 7048 HP:0004375 Neoplasm of the nervous system ORPHANET:144 TGFBR2 7048 HP:0001541 Ascites ORPHANET:144 TGFBR2 7048 HP:0002894 Neoplasm of the pancreas ORPHANET:144 TGFBR2 7048 HP:0002024 Malabsorption ORPHANET:144 TGFBR2 7048 HP:0005214 Intestinal obstruction ORPHANET:144 TGFBR2 7048 HP:0009726 Renal neoplasm ORPHANET:144 TGFBR2 7048 HP:0002019 Constipation ORPHANET:144 TGFBR2 7048 HP:0002017 Nausea and vomiting ORPHANET:144 TGFBR2 7048 HP:0100833 Neoplasm of the small intestine ORPHANET:144 TGFBR2 7048 HP:0100273 Neoplasm of the colon ORPHANET:144 TGFBR2 7048 HP:0100743 Neoplasm of the rectum ORPHANET:144 TGFBR2 7048 HP:0000010 Recurrent urinary tract infections ORPHANET:144 TGFBR2 7048 HP:0010784 Uterine neoplasm ORPHANET:144 TGFBR2 7048 HP:0001824 Weight loss ORPHANET:144 TGFBR2 7048 HP:0002239 Gastrointestinal hemorrhage ORPHANET:144 TGFBR2 7048 HP:0001903 Anemia ORPHANET:144 TGFBR2 7048 HP:0100574 Biliary tract neoplasm ORPHANET:144 TGFBR2 7048 HP:0100615 Ovarian neoplasm ORPHANET:144 MLH1 4292 HP:0006753 Neoplasm of the stomach ORPHANET:144 MLH1 4292 HP:0002240 Hepatomegaly ORPHANET:144 MLH1 4292 HP:0004375 Neoplasm of the nervous system ORPHANET:144 MLH1 4292 HP:0001541 Ascites ORPHANET:144 MLH1 4292 HP:0002894 Neoplasm of the pancreas ORPHANET:144 MLH1 4292 HP:0002024 Malabsorption ORPHANET:144 MLH1 4292 HP:0005214 Intestinal obstruction ORPHANET:144 MLH1 4292 HP:0009726 Renal neoplasm ORPHANET:144 MLH1 4292 HP:0002019 Constipation ORPHANET:144 MLH1 4292 HP:0002017 Nausea and vomiting ORPHANET:144 MLH1 4292 HP:0100833 Neoplasm of the small intestine ORPHANET:144 MLH1 4292 HP:0100273 Neoplasm of the colon ORPHANET:144 MLH1 4292 HP:0100743 Neoplasm of the rectum ORPHANET:144 MLH1 4292 HP:0000010 Recurrent urinary tract infections ORPHANET:144 MLH1 4292 HP:0010784 Uterine neoplasm ORPHANET:144 MLH1 4292 HP:0001824 Weight loss ORPHANET:144 MLH1 4292 HP:0002239 Gastrointestinal hemorrhage ORPHANET:144 MLH1 4292 HP:0001903 Anemia ORPHANET:144 MLH1 4292 HP:0100574 Biliary tract neoplasm ORPHANET:144 MLH1 4292 HP:0100615 Ovarian neoplasm ORPHANET:144 PIK3CA 5290 HP:0006753 Neoplasm of the stomach ORPHANET:144 PIK3CA 5290 HP:0002240 Hepatomegaly ORPHANET:144 PIK3CA 5290 HP:0004375 Neoplasm of the nervous system ORPHANET:144 PIK3CA 5290 HP:0001541 Ascites ORPHANET:144 PIK3CA 5290 HP:0002894 Neoplasm of the pancreas ORPHANET:144 PIK3CA 5290 HP:0002024 Malabsorption ORPHANET:144 PIK3CA 5290 HP:0005214 Intestinal obstruction ORPHANET:144 PIK3CA 5290 HP:0009726 Renal neoplasm ORPHANET:144 PIK3CA 5290 HP:0002019 Constipation ORPHANET:144 PIK3CA 5290 HP:0002017 Nausea and vomiting ORPHANET:144 PIK3CA 5290 HP:0100833 Neoplasm of the small intestine ORPHANET:144 PIK3CA 5290 HP:0100273 Neoplasm of the colon ORPHANET:144 PIK3CA 5290 HP:0100743 Neoplasm of the rectum ORPHANET:144 PIK3CA 5290 HP:0000010 Recurrent urinary tract infections ORPHANET:144 PIK3CA 5290 HP:0010784 Uterine neoplasm ORPHANET:144 PIK3CA 5290 HP:0001824 Weight loss ORPHANET:144 PIK3CA 5290 HP:0002239 Gastrointestinal hemorrhage ORPHANET:144 PIK3CA 5290 HP:0001903 Anemia ORPHANET:144 PIK3CA 5290 HP:0100574 Biliary tract neoplasm ORPHANET:144 PIK3CA 5290 HP:0100615 Ovarian neoplasm ORPHANET:144 EPCAM 4072 HP:0006753 Neoplasm of the stomach ORPHANET:144 EPCAM 4072 HP:0002240 Hepatomegaly ORPHANET:144 EPCAM 4072 HP:0004375 Neoplasm of the nervous system ORPHANET:144 EPCAM 4072 HP:0001541 Ascites ORPHANET:144 EPCAM 4072 HP:0002894 Neoplasm of the pancreas ORPHANET:144 EPCAM 4072 HP:0002024 Malabsorption ORPHANET:144 EPCAM 4072 HP:0005214 Intestinal obstruction ORPHANET:144 EPCAM 4072 HP:0009726 Renal neoplasm ORPHANET:144 EPCAM 4072 HP:0002019 Constipation ORPHANET:144 EPCAM 4072 HP:0002017 Nausea and vomiting ORPHANET:144 EPCAM 4072 HP:0100833 Neoplasm of the small intestine ORPHANET:144 EPCAM 4072 HP:0100273 Neoplasm of the colon ORPHANET:144 EPCAM 4072 HP:0100743 Neoplasm of the rectum ORPHANET:144 EPCAM 4072 HP:0000010 Recurrent urinary tract infections ORPHANET:144 EPCAM 4072 HP:0010784 Uterine neoplasm ORPHANET:144 EPCAM 4072 HP:0001824 Weight loss ORPHANET:144 EPCAM 4072 HP:0002239 Gastrointestinal hemorrhage ORPHANET:144 EPCAM 4072 HP:0001903 Anemia ORPHANET:144 EPCAM 4072 HP:0100574 Biliary tract neoplasm ORPHANET:144 EPCAM 4072 HP:0100615 Ovarian neoplasm ORPHANET:144 PMS2 5395 HP:0006753 Neoplasm of the stomach ORPHANET:144 PMS2 5395 HP:0002240 Hepatomegaly ORPHANET:144 PMS2 5395 HP:0004375 Neoplasm of the nervous system ORPHANET:144 PMS2 5395 HP:0001541 Ascites ORPHANET:144 PMS2 5395 HP:0002894 Neoplasm of the pancreas ORPHANET:144 PMS2 5395 HP:0002024 Malabsorption ORPHANET:144 PMS2 5395 HP:0005214 Intestinal obstruction ORPHANET:144 PMS2 5395 HP:0009726 Renal neoplasm ORPHANET:144 PMS2 5395 HP:0002019 Constipation ORPHANET:144 PMS2 5395 HP:0002017 Nausea and vomiting ORPHANET:144 PMS2 5395 HP:0100833 Neoplasm of the small intestine ORPHANET:144 PMS2 5395 HP:0100273 Neoplasm of the colon ORPHANET:144 PMS2 5395 HP:0100743 Neoplasm of the rectum ORPHANET:144 PMS2 5395 HP:0000010 Recurrent urinary tract infections ORPHANET:144 PMS2 5395 HP:0010784 Uterine neoplasm ORPHANET:144 PMS2 5395 HP:0001824 Weight loss ORPHANET:144 PMS2 5395 HP:0002239 Gastrointestinal hemorrhage ORPHANET:144 PMS2 5395 HP:0001903 Anemia ORPHANET:144 PMS2 5395 HP:0100574 Biliary tract neoplasm ORPHANET:144 PMS2 5395 HP:0100615 Ovarian neoplasm ORPHANET:144 PMS1 5378 HP:0006753 Neoplasm of the stomach ORPHANET:144 PMS1 5378 HP:0002240 Hepatomegaly ORPHANET:144 PMS1 5378 HP:0004375 Neoplasm of the nervous system ORPHANET:144 PMS1 5378 HP:0001541 Ascites ORPHANET:144 PMS1 5378 HP:0002894 Neoplasm of the pancreas ORPHANET:144 PMS1 5378 HP:0002024 Malabsorption ORPHANET:144 PMS1 5378 HP:0005214 Intestinal obstruction ORPHANET:144 PMS1 5378 HP:0009726 Renal neoplasm ORPHANET:144 PMS1 5378 HP:0002019 Constipation ORPHANET:144 PMS1 5378 HP:0002017 Nausea and vomiting ORPHANET:144 PMS1 5378 HP:0100833 Neoplasm of the small intestine ORPHANET:144 PMS1 5378 HP:0100273 Neoplasm of the colon ORPHANET:144 PMS1 5378 HP:0100743 Neoplasm of the rectum ORPHANET:144 PMS1 5378 HP:0000010 Recurrent urinary tract infections ORPHANET:144 PMS1 5378 HP:0010784 Uterine neoplasm ORPHANET:144 PMS1 5378 HP:0001824 Weight loss ORPHANET:144 PMS1 5378 HP:0002239 Gastrointestinal hemorrhage ORPHANET:144 PMS1 5378 HP:0001903 Anemia ORPHANET:144 PMS1 5378 HP:0100574 Biliary tract neoplasm ORPHANET:144 PMS1 5378 HP:0100615 Ovarian neoplasm ORPHANET:144 MLH3 27030 HP:0006753 Neoplasm of the stomach ORPHANET:144 MLH3 27030 HP:0002240 Hepatomegaly ORPHANET:144 MLH3 27030 HP:0004375 Neoplasm of the nervous system ORPHANET:144 MLH3 27030 HP:0001541 Ascites ORPHANET:144 MLH3 27030 HP:0002894 Neoplasm of the pancreas ORPHANET:144 MLH3 27030 HP:0002024 Malabsorption ORPHANET:144 MLH3 27030 HP:0005214 Intestinal obstruction ORPHANET:144 MLH3 27030 HP:0009726 Renal neoplasm ORPHANET:144 MLH3 27030 HP:0002019 Constipation ORPHANET:144 MLH3 27030 HP:0002017 Nausea and vomiting ORPHANET:144 MLH3 27030 HP:0100833 Neoplasm of the small intestine ORPHANET:144 MLH3 27030 HP:0100273 Neoplasm of the colon ORPHANET:144 MLH3 27030 HP:0100743 Neoplasm of the rectum ORPHANET:144 MLH3 27030 HP:0000010 Recurrent urinary tract infections ORPHANET:144 MLH3 27030 HP:0010784 Uterine neoplasm ORPHANET:144 MLH3 27030 HP:0001824 Weight loss ORPHANET:144 MLH3 27030 HP:0002239 Gastrointestinal hemorrhage ORPHANET:144 MLH3 27030 HP:0001903 Anemia ORPHANET:144 MLH3 27030 HP:0100574 Biliary tract neoplasm ORPHANET:144 MLH3 27030 HP:0100615 Ovarian neoplasm ORPHANET:144 KRAS 3845 HP:0006753 Neoplasm of the stomach ORPHANET:144 KRAS 3845 HP:0002240 Hepatomegaly ORPHANET:144 KRAS 3845 HP:0004375 Neoplasm of the nervous system ORPHANET:144 KRAS 3845 HP:0001541 Ascites ORPHANET:144 KRAS 3845 HP:0002894 Neoplasm of the pancreas ORPHANET:144 KRAS 3845 HP:0002024 Malabsorption ORPHANET:144 KRAS 3845 HP:0005214 Intestinal obstruction ORPHANET:144 KRAS 3845 HP:0009726 Renal neoplasm ORPHANET:144 KRAS 3845 HP:0002019 Constipation ORPHANET:144 KRAS 3845 HP:0002017 Nausea and vomiting ORPHANET:144 KRAS 3845 HP:0100833 Neoplasm of the small intestine ORPHANET:144 KRAS 3845 HP:0100273 Neoplasm of the colon ORPHANET:144 KRAS 3845 HP:0100743 Neoplasm of the rectum ORPHANET:144 KRAS 3845 HP:0000010 Recurrent urinary tract infections ORPHANET:144 KRAS 3845 HP:0010784 Uterine neoplasm ORPHANET:144 KRAS 3845 HP:0001824 Weight loss ORPHANET:144 KRAS 3845 HP:0002239 Gastrointestinal hemorrhage ORPHANET:144 KRAS 3845 HP:0001903 Anemia ORPHANET:144 KRAS 3845 HP:0100574 Biliary tract neoplasm ORPHANET:144 KRAS 3845 HP:0100615 Ovarian neoplasm ORPHANET:144 BMPR1A 657 HP:0006753 Neoplasm of the stomach ORPHANET:144 BMPR1A 657 HP:0002240 Hepatomegaly ORPHANET:144 BMPR1A 657 HP:0004375 Neoplasm of the nervous system ORPHANET:144 BMPR1A 657 HP:0001541 Ascites ORPHANET:144 BMPR1A 657 HP:0002894 Neoplasm of the pancreas ORPHANET:144 BMPR1A 657 HP:0002024 Malabsorption ORPHANET:144 BMPR1A 657 HP:0005214 Intestinal obstruction ORPHANET:144 BMPR1A 657 HP:0009726 Renal neoplasm ORPHANET:144 BMPR1A 657 HP:0002019 Constipation ORPHANET:144 BMPR1A 657 HP:0002017 Nausea and vomiting ORPHANET:144 BMPR1A 657 HP:0100833 Neoplasm of the small intestine ORPHANET:144 BMPR1A 657 HP:0100273 Neoplasm of the colon ORPHANET:144 BMPR1A 657 HP:0100743 Neoplasm of the rectum ORPHANET:144 BMPR1A 657 HP:0000010 Recurrent urinary tract infections ORPHANET:144 BMPR1A 657 HP:0010784 Uterine neoplasm ORPHANET:144 BMPR1A 657 HP:0001824 Weight loss ORPHANET:144 BMPR1A 657 HP:0002239 Gastrointestinal hemorrhage ORPHANET:144 BMPR1A 657 HP:0001903 Anemia ORPHANET:144 BMPR1A 657 HP:0100574 Biliary tract neoplasm ORPHANET:144 BMPR1A 657 HP:0100615 Ovarian neoplasm OMIM:300622 C1GALT1C1 29071 HP:0001877 Abnormality of erythrocytes OMIM:300622 C1GALT1C1 29071 HP:0002960 Autoimmunity OMIM:613070 TRMU 55687 HP:0003128 Lactic acidosis OMIM:613070 TRMU 55687 HP:0006554 Acute hepatic failure OMIM:613070 TRMU 55687 HP:0000952 Jaundice OMIM:613070 TRMU 55687 HP:0002904 Hyperbilirubinemia OMIM:613070 TRMU 55687 HP:0003256 Abnormality of the coagulation cascade OMIM:613070 TRMU 55687 HP:0000007 Autosomal recessive inheritance OMIM:613070 TRMU 55687 HP:0001403 Macrovesicular hepatic steatosis OMIM:613070 TRMU 55687 HP:0002151 Increased serum lactate OMIM:613070 TRMU 55687 HP:0200125 Mitochondrial respiratory chain defects OMIM:613070 TRMU 55687 HP:0001414 Microvesicular hepatic steatosis OMIM:613070 TRMU 55687 HP:0002013 Vomiting OMIM:613070 TRMU 55687 HP:0008872 Feeding difficulties in infancy OMIM:613070 TRMU 55687 HP:0002240 Hepatomegaly OMIM:613070 TRMU 55687 HP:0002910 Elevated hepatic transaminases OMIM:613070 TRMU 55687 HP:0003270 Abdominal distention OMIM:613070 TRMU 55687 HP:0001252 Muscular hypotonia OMIM:612529 MMP20 9313 HP:0000007 Autosomal recessive inheritance OMIM:612529 MMP20 9313 HP:0000705 Amelogenesis imperfecta OMIM:612529 MMP20 9313 HP:0200095 Anterior open bite OMIM:615605 EHHADH 1962 HP:0003355 Aminoaciduria OMIM:615605 EHHADH 1962 HP:0002979 Bowing of the legs OMIM:615605 EHHADH 1962 HP:0003828 Variable expressivity OMIM:615605 EHHADH 1962 HP:0004322 Short stature OMIM:615605 EHHADH 1962 HP:0001942 Metabolic acidosis OMIM:615605 EHHADH 1962 HP:0000006 Autosomal dominant inheritance OMIM:615605 EHHADH 1962 HP:0003109 Hyperphosphaturia OMIM:615605 EHHADH 1962 HP:0003076 Glycosuria OMIM:615605 EHHADH 1962 HP:0000093 Proteinuria OMIM:615605 EHHADH 1962 HP:0002748 Rickets OMIM:613676 CENPJ 55835 HP:0000252 Microcephaly OMIM:613676 CENPJ 55835 HP:0010455 Steep acetabular roof OMIM:613676 CENPJ 55835 HP:0000369 Low-set ears OMIM:613676 CENPJ 55835 HP:0001511 Intrauterine growth retardation OMIM:613676 CENPJ 55835 HP:0000278 Retrognathia OMIM:613676 CENPJ 55835 HP:0004325 Decreased body weight OMIM:613676 CENPJ 55835 HP:0000007 Autosomal recessive inheritance OMIM:613676 CENPJ 55835 HP:0100543 Cognitive impairment OMIM:613676 CENPJ 55835 HP:0004322 Short stature OMIM:613676 CENPJ 55835 HP:0000430 Underdeveloped nasal alae OMIM:613676 CENPJ 55835 HP:0000348 High forehead OMIM:615907 VEGFC 7424 HP:0001004 Lymphedema OMIM:615907 VEGFC 7424 HP:0100797 Toenail dysplasia OMIM:615907 VEGFC 7424 HP:0000034 Hydrocele testis OMIM:611816 KCNH1 3756 HP:0000343 Long philtrum OMIM:611816 KCNH1 3756 HP:0000445 Wide nose OMIM:611816 KCNH1 3756 HP:0011304 Broad thumb OMIM:611816 KCNH1 3756 HP:0000286 Epicanthus OMIM:611816 KCNH1 3756 HP:0009928 Thick nasal alae OMIM:611816 KCNH1 3756 HP:0002058 Myopathic facies OMIM:611816 KCNH1 3756 HP:0004425 Flat forehead OMIM:611816 KCNH1 3756 HP:0010055 Broad hallux OMIM:611816 KCNH1 3756 HP:0002714 Downturned corners of mouth OMIM:611816 KCNH1 3756 HP:0005280 Depressed nasal bridge OMIM:611816 KCNH1 3756 HP:0001181 Adducted thumb OMIM:611816 KCNH1 3756 HP:0001263 Global developmental delay OMIM:611816 KCNH1 3756 HP:0000316 Hypertelorism OMIM:611816 KCNH1 3756 HP:0012553 Hypoplastic thumbnail OMIM:611816 KCNH1 3756 HP:0000154 Wide mouth OMIM:611816 KCNH1 3756 HP:0010864 Intellectual disability, severe OMIM:611816 KCNH1 3756 HP:0000007 Autosomal recessive inheritance OMIM:611816 KCNH1 3756 HP:0009882 Short distal phalanx of finger OMIM:611816 KCNH1 3756 HP:0006887 Intellectual disability, progressive OMIM:611816 KCNH1 3756 HP:0009693 Pseudoepiphysis of the thumb OMIM:611816 KCNH1 3756 HP:0012555 Absent nail of hallux OMIM:611816 KCNH1 3756 HP:0001250 Seizures OMIM:611816 KCNH1 3756 HP:0001252 Muscular hypotonia OMIM:166600 CLCN7 1186 HP:0010628 Facial palsy OMIM:166600 CLCN7 1186 HP:0011002 Osteopetrosis OMIM:166600 CLCN7 1186 HP:0008843 Hip osteoarthritis OMIM:166600 CLCN7 1186 HP:0002757 Recurrent fractures OMIM:166600 CLCN7 1186 HP:0003148 Elevated serum acid phosphatase OMIM:166600 CLCN7 1186 HP:0010885 Aseptic necrosis OMIM:166600 CLCN7 1186 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:166600 CLCN7 1186 HP:0001903 Anemia OMIM:166600 CLCN7 1186 HP:0000006 Autosomal dominant inheritance OMIM:166600 CLCN7 1186 HP:0001373 Joint dislocation OMIM:166600 CLCN7 1186 HP:0000365 Hearing impairment OMIM:166600 CLCN7 1186 HP:0000238 Hydrocephalus OMIM:166600 CLCN7 1186 HP:0000648 Optic atrophy OMIM:166600 CLCN7 1186 HP:0000256 Macrocephaly OMIM:166600 CLCN7 1186 HP:0002754 Osteomyelitis OMIM:166600 CLCN7 1186 HP:0000505 Visual impairment OMIM:166600 CLCN7 1186 HP:0002758 Osteoarthritis OMIM:166600 CLCN7 1186 HP:0000944 Abnormality of the metaphyses OMIM:166600 CLCN7 1186 HP:0002007 Frontal bossing OMIM:166600 CLCN7 1186 HP:0005789 Generalized osteosclerosis OMIM:166600 CLCN7 1186 HP:0005528 Bone marrow hypocellularity OMIM:166600 CLCN7 1186 HP:0004322 Short stature OMIM:166600 CLCN7 1186 HP:0002653 Bone pain OMIM:166600 CLCN7 1186 HP:0003084 Fractures of the long bones OMIM:166600 CLCN7 1186 HP:0007626 Mandibular osteomyelitis OMIM:166600 CLCN7 1186 HP:0001881 Abnormality of leukocytes OMIM:166600 CLCN7 1186 HP:0009882 Short distal phalanx of finger OMIM:166600 CLCN7 1186 HP:0001163 Abnormality of the metacarpal bones OMIM:166600 CLCN7 1186 HP:0005930 Abnormality of epiphysis morphology OMIM:166600 CLCN7 1186 HP:0005106 Abnormality of the vertebral endplates OMIM:166600 CLCN7 1186 HP:0000670 Carious teeth OMIM:166600 CLCN7 1186 HP:0002901 Hypocalcemia OMIM:166600 CLCN7 1186 HP:0003621 Juvenile onset OMIM:166600 CLCN7 1186 HP:0002857 Genu valgum OMIM:166600 CLCN7 1186 HP:0007209 Facial paralysis OMIM:143860 CA12 771 HP:0002902 Hyponatremia OMIM:143860 CA12 771 HP:0003593 Infantile onset OMIM:143860 CA12 771 HP:0002153 Hyperkalemia OMIM:143860 CA12 771 HP:0011968 Feeding difficulties OMIM:143860 CA12 771 HP:0001508 Failure to thrive OMIM:143860 CA12 771 HP:0000006 Autosomal dominant inheritance OMIM:143860 CA12 771 HP:0001944 Dehydration OMIM:143860 CA12 771 HP:0000007 Autosomal recessive inheritance OMIM:150600 COL2A1 1280 HP:0002829 Arthralgia OMIM:150600 COL2A1 1280 HP:0004322 Short stature OMIM:150600 COL2A1 1280 HP:0005743 Avascular necrosis of the capital femoral epiphysis OMIM:150600 COL2A1 1280 HP:0000164 Abnormality of the teeth OMIM:150600 COL2A1 1280 HP:0002750 Delayed skeletal maturation OMIM:150600 COL2A1 1280 HP:0003202 Skeletal muscle atrophy OMIM:150600 COL2A1 1280 HP:0100773 Cartilage destruction OMIM:187600 FGFR3 2261 HP:0001643 Patent ductus arteriosus OMIM:187600 FGFR3 2261 HP:0001561 Polyhydramnios OMIM:187600 FGFR3 2261 HP:0001631 Defect in the atrial septum OMIM:187600 FGFR3 2261 HP:0002119 Ventriculomegaly OMIM:187600 FGFR3 2261 HP:0002676 Cloverleaf skull OMIM:187600 FGFR3 2261 HP:0002093 Respiratory insufficiency OMIM:187600 FGFR3 2261 HP:0001376 Limitation of joint mobility OMIM:187600 FGFR3 2261 HP:0002187 Intellectual disability, profound OMIM:187600 FGFR3 2261 HP:0000365 Hearing impairment OMIM:187600 FGFR3 2261 HP:0000274 Small face OMIM:187600 FGFR3 2261 HP:0001252 Muscular hypotonia OMIM:187600 FGFR3 2261 HP:0000238 Hydrocephalus OMIM:187600 FGFR3 2261 HP:0002808 Kyphosis OMIM:187600 FGFR3 2261 HP:0002007 Frontal bossing OMIM:187600 FGFR3 2261 HP:0004322 Short stature OMIM:187600 FGFR3 2261 HP:0010880 Increased nuchal translucency OMIM:187600 FGFR3 2261 HP:0100781 Abnormality of the sacroiliac joint OMIM:187600 FGFR3 2261 HP:0002677 Small foramen magnum OMIM:187600 FGFR3 2261 HP:0000774 Narrow chest OMIM:187600 FGFR3 2261 HP:0000926 Platyspondyly OMIM:187600 FGFR3 2261 HP:0001250 Seizures OMIM:187600 FGFR3 2261 HP:0001171 Split hand OMIM:187600 FGFR3 2261 HP:0006487 Bowing of the long bones OMIM:187600 FGFR3 2261 HP:0001263 Global developmental delay OMIM:187600 FGFR3 2261 HP:0001558 Decreased fetal movement OMIM:187600 FGFR3 2261 HP:0002823 Abnormality of the femur OMIM:187600 FGFR3 2261 HP:0008909 Lethal short-limbed short stature OMIM:187600 FGFR3 2261 HP:0000256 Macrocephaly OMIM:187600 FGFR3 2261 HP:0003025 Metaphyseal irregularity OMIM:187600 FGFR3 2261 HP:0002652 Skeletal dysplasia OMIM:187600 FGFR3 2261 HP:0005280 Depressed nasal bridge OMIM:187600 FGFR3 2261 HP:0002983 Micromelia OMIM:187600 FGFR3 2261 HP:0000520 Proptosis OMIM:187600 FGFR3 2261 HP:0003026 Short long bone OMIM:187600 FGFR3 2261 HP:0004565 Severe platyspondyly OMIM:187600 FGFR3 2261 HP:0000272 Malar flattening OMIM:187600 FGFR3 2261 HP:0003811 Neonatal death OMIM:187600 FGFR3 2261 HP:0002991 Abnormality of the fibula OMIM:187600 FGFR3 2261 HP:0002282 Heterotopia OMIM:187600 FGFR3 2261 HP:0000946 Hypoplastic ilia OMIM:187600 FGFR3 2261 HP:0010306 Short thorax OMIM:187600 FGFR3 2261 HP:0000910 Wide-cupped costochondral junctions OMIM:187600 FGFR3 2261 HP:0000773 Short ribs OMIM:187600 FGFR3 2261 HP:0000889 Abnormality of the clavicle OMIM:187600 FGFR3 2261 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:187600 FGFR3 2261 HP:0002992 Abnormality of the tibia OMIM:187600 FGFR3 2261 HP:0000077 Abnormality of the kidney OMIM:187600 FGFR3 2261 HP:0006584 Small abnormally formed scapulae OMIM:187600 FGFR3 2261 HP:0003185 Short sacroiliac notch OMIM:187600 FGFR3 2261 HP:0000956 Acanthosis nigricans OMIM:187600 FGFR3 2261 HP:0003510 Severe short stature OMIM:187600 FGFR3 2261 HP:0000006 Autosomal dominant inheritance OMIM:187600 FGFR3 2261 HP:0002269 Abnormality of neuronal migration OMIM:187600 FGFR3 2261 HP:0100543 Cognitive impairment OMIM:187600 FGFR3 2261 HP:0001156 Brachydactyly syndrome OMIM:187600 FGFR3 2261 HP:0003015 Flared metaphysis OMIM:187600 FGFR3 2261 HP:0000973 Cutis laxa OMIM:613388 SLC34A1 6569 HP:0000938 Osteopenia OMIM:613388 SLC34A1 6569 HP:0003076 Glycosuria OMIM:613388 SLC34A1 6569 HP:0004322 Short stature OMIM:613388 SLC34A1 6569 HP:0001324 Muscle weakness OMIM:613388 SLC34A1 6569 HP:0000007 Autosomal recessive inheritance OMIM:613388 SLC34A1 6569 HP:0002748 Rickets OMIM:613388 SLC34A1 6569 HP:0000083 Renal insufficiency OMIM:613388 SLC34A1 6569 HP:0002150 Hypercalciuria OMIM:613388 SLC34A1 6569 HP:0010639 Elevated alkaline phosphatase of bone origin OMIM:613388 SLC34A1 6569 HP:0002148 Hypophosphatemia OMIM:613388 SLC34A1 6569 HP:0000114 Proximal tubulopathy OMIM:613388 SLC34A1 6569 HP:0002909 Generalized aminoaciduria OMIM:615238 CIDEC 63924 HP:0009125 Lipodystrophy OMIM:615238 CIDEC 63924 HP:0000007 Autosomal recessive inheritance OMIM:615238 CIDEC 63924 HP:0000956 Acanthosis nigricans OMIM:615238 CIDEC 63924 HP:0002240 Hepatomegaly OMIM:615238 CIDEC 63924 HP:0001397 Hepatic steatosis OMIM:615238 CIDEC 63924 HP:0002155 Hypertriglyceridemia OMIM:612292 KCNK9 51305 HP:0000574 Thick eyebrow OMIM:612292 KCNK9 51305 HP:0000006 Autosomal dominant inheritance OMIM:612292 KCNK9 51305 HP:0000960 Sacral dimple OMIM:612292 KCNK9 51305 HP:0000322 Short philtrum OMIM:612292 KCNK9 51305 HP:0011229 Broad eyebrow OMIM:612292 KCNK9 51305 HP:0000218 High palate OMIM:612292 KCNK9 51305 HP:0000341 Narrow forehead OMIM:612292 KCNK9 51305 HP:0001249 Intellectual disability OMIM:612292 KCNK9 51305 HP:0002553 Highly arched eyebrow OMIM:612292 KCNK9 51305 HP:0002015 Dysphagia OMIM:612292 KCNK9 51305 HP:0011819 Submucous cleft soft palate OMIM:612292 KCNK9 51305 HP:0001999 Abnormal facial shape OMIM:612292 KCNK9 51305 HP:0001252 Muscular hypotonia OMIM:612292 KCNK9 51305 HP:0008872 Feeding difficulties in infancy OMIM:251880 DGUOK 1716 HP:0003073 Hypoalbuminemia OMIM:251880 DGUOK 1716 HP:0001508 Failure to thrive OMIM:251880 DGUOK 1716 HP:0001541 Ascites OMIM:251880 DGUOK 1716 HP:0001405 Periportal fibrosis OMIM:251880 DGUOK 1716 HP:0001250 Seizures OMIM:251880 DGUOK 1716 HP:0001413 Micronodular cirrhosis OMIM:251880 DGUOK 1716 HP:0001399 Hepatic failure OMIM:251880 DGUOK 1716 HP:0001409 Portal hypertension OMIM:251880 DGUOK 1716 HP:0000639 Nystagmus OMIM:251880 DGUOK 1716 HP:0001298 Encephalopathy OMIM:251880 DGUOK 1716 HP:0001252 Muscular hypotonia OMIM:251880 DGUOK 1716 HP:0002013 Vomiting OMIM:251880 DGUOK 1716 HP:0000007 Autosomal recessive inheritance OMIM:251880 DGUOK 1716 HP:0001271 Polyneuropathy OMIM:251880 DGUOK 1716 HP:0001404 Hepatocellular necrosis OMIM:251880 DGUOK 1716 HP:0001347 Hyperreflexia OMIM:251880 DGUOK 1716 HP:0000252 Microcephaly OMIM:251880 DGUOK 1716 HP:0000549 Abnormal conjugate eye movement OMIM:251880 DGUOK 1716 HP:0002909 Generalized aminoaciduria OMIM:251880 DGUOK 1716 HP:0001744 Splenomegaly OMIM:251880 DGUOK 1716 HP:0008972 Decreased activity of mitochondrial respiratory chain OMIM:251880 DGUOK 1716 HP:0008872 Feeding difficulties in infancy OMIM:251880 DGUOK 1716 HP:0000952 Jaundice OMIM:251880 DGUOK 1716 HP:0001510 Growth delay OMIM:251880 DGUOK 1716 HP:0002240 Hepatomegaly OMIM:251880 DGUOK 1716 HP:0002910 Elevated hepatic transaminases OMIM:251880 DGUOK 1716 HP:0002059 Cerebral atrophy OMIM:251880 DGUOK 1716 HP:0006581 Depletion of mitochondrial DNA in liver OMIM:251880 DGUOK 1716 HP:0001873 Thrombocytopenia OMIM:251880 DGUOK 1716 HP:0003128 Lactic acidosis OMIM:251880 DGUOK 1716 HP:0002045 Hypothermia OMIM:251880 DGUOK 1716 HP:0002904 Hyperbilirubinemia OMIM:251880 DGUOK 1716 HP:0001943 Hypoglycemia OMIM:251880 DGUOK 1716 HP:0001397 Hepatic steatosis OMIM:133700 EXT1 2131 HP:0010049 Short metacarpal OMIM:133700 EXT1 2131 HP:0002318 Cervical myelopathy OMIM:133700 EXT1 2131 HP:0002812 Coxa vara OMIM:133700 EXT1 2131 HP:0003068 Madelung-like forearm deformities OMIM:133700 EXT1 2131 HP:0003621 Juvenile onset OMIM:133700 EXT1 2131 HP:0000006 Autosomal dominant inheritance OMIM:133700 EXT1 2131 HP:0001760 Abnormality of the foot OMIM:133700 EXT1 2131 HP:0004322 Short stature OMIM:133700 EXT1 2131 HP:0000896 Rib exostoses OMIM:133700 EXT1 2131 HP:0003276 Pelvic bone exostoses OMIM:133700 EXT1 2131 HP:0003406 Peripheral nerve compression OMIM:133700 EXT1 2131 HP:0002857 Genu valgum OMIM:133700 EXT1 2131 HP:0003105 Protuberances at ends of long bones OMIM:133700 EXT1 2131 HP:0000918 Scapular exostoses OMIM:133700 EXT1 2131 HP:0006765 Chondrosarcoma OMIM:125595 KRT14 3861 HP:0012788 Reticulate pigmentation of oral mucosa OMIM:125595 KRT14 3861 HP:0007550 Hypohidrosis or hyperhidrosis OMIM:125595 KRT14 3861 HP:0008404 Nail dystrophy OMIM:125595 KRT14 3861 HP:0007588 Reticular hyperpigmentation OMIM:125595 KRT14 3861 HP:0000972 Palmoplantar hyperkeratosis OMIM:125595 KRT14 3861 HP:0007455 Adermatoglyphia OMIM:125595 KRT14 3861 HP:0002293 Alopecia of scalp OMIM:125595 KRT14 3861 HP:0000006 Autosomal dominant inheritance OMIM:125595 KRT14 3861 HP:0000502 Abnormality of the conjunctiva ORPHANET:2833 FBN1 2200 HP:0100679 Lack of skin elasticity ORPHANET:2833 FBN1 2200 HP:0000501 Glaucoma ORPHANET:2833 FBN1 2200 HP:0000541 Retinal detachment ORPHANET:2833 FBN1 2200 HP:0001072 Thickened skin ORPHANET:2833 FBN1 2200 HP:0000787 Nephrolithiasis ORPHANET:2833 FBN1 2200 HP:0001324 Muscle weakness ORPHANET:2833 FBN1 2200 HP:0007328 Impaired pain sensation ORPHANET:2833 FBN1 2200 HP:0004322 Short stature ORPHANET:2833 FBN1 2200 HP:0000822 Hypertension ORPHANET:2833 FBN1 2200 HP:0100578 Lipoatrophy ORPHANET:2833 FBN1 2200 HP:0000486 Strabismus ORPHANET:2833 FBN1 2200 HP:0001376 Limitation of joint mobility ORPHANET:2833 FBN1 2200 HP:0000407 Sensorineural hearing impairment ORPHANET:2833 FBN1 2200 HP:0003119 Abnormality of lipid metabolism ORPHANET:2833 FBN1 2200 HP:0005978 Type II diabetes mellitus ORPHANET:2833 FBN1 2200 HP:0003202 Skeletal muscle atrophy ORPHANET:2833 FBN1 2200 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:2833 FBN1 2200 HP:0000272 Malar flattening OMIM:125490 DSPP 1834 HP:0000006 Autosomal dominant inheritance OMIM:125490 DSPP 1834 HP:0000703 Dentinogenesis imperfecta OMIM:613838 MYOZ2 51778 HP:0004756 Ventricular tachycardia OMIM:613838 MYOZ2 51778 HP:0011713 Left bundle branch block OMIM:613838 MYOZ2 51778 HP:0005110 Atrial fibrillation OMIM:613838 MYOZ2 51778 HP:0000006 Autosomal dominant inheritance OMIM:613838 MYOZ2 51778 HP:0001712 Left ventricular hypertrophy OMIM:613838 MYOZ2 51778 HP:0001670 Asymmetric septal hypertrophy OMIM:608611 RPIA 22934 HP:0007141 Sensorimotor neuropathy OMIM:608611 RPIA 22934 HP:0001271 Polyneuropathy OMIM:608611 RPIA 22934 HP:0001257 Spasticity OMIM:608611 RPIA 22934 HP:0001251 Ataxia OMIM:608611 RPIA 22934 HP:0000648 Optic atrophy OMIM:608611 RPIA 22934 HP:0001250 Seizures OMIM:608611 RPIA 22934 HP:0000007 Autosomal recessive inheritance OMIM:608611 RPIA 22934 HP:0002352 Leukoencephalopathy OMIM:608611 RPIA 22934 HP:0001263 Global developmental delay OMIM:608611 RPIA 22934 HP:0001939 Abnormality of metabolism/homeostasis OMIM:615942 METTL23 124512 HP:0001250 Seizures OMIM:615942 METTL23 124512 HP:0001249 Intellectual disability OMIM:615942 METTL23 124512 HP:0000233 Thin vermilion border OMIM:615942 METTL23 124512 HP:0000343 Long philtrum OMIM:615942 METTL23 124512 HP:0001263 Global developmental delay OMIM:615942 METTL23 124512 HP:0005280 Depressed nasal bridge OMIM:615942 METTL23 124512 HP:0005469 Flat occiput OMIM:615942 METTL23 124512 HP:0001763 Pes planus OMIM:257850 GJA1 2697 HP:0000160 Narrow mouth OMIM:257850 GJA1 2697 HP:0010705 4-5 finger syndactyly OMIM:257850 GJA1 2697 HP:0000482 Microcornea OMIM:257850 GJA1 2697 HP:0001773 Short foot OMIM:257850 GJA1 2697 HP:0000460 Narrow nose OMIM:257850 GJA1 2697 HP:0004322 Short stature OMIM:257850 GJA1 2697 HP:0007930 Prominent epicanthal folds OMIM:257850 GJA1 2697 HP:0006482 Abnormality of dental morphology OMIM:257850 GJA1 2697 HP:0000347 Micrognathia OMIM:257850 GJA1 2697 HP:0000689 Dental malocclusion OMIM:257850 GJA1 2697 HP:0005769 Fifth finger distal phalanx clinodactyly OMIM:257850 GJA1 2697 HP:0002750 Delayed skeletal maturation OMIM:257850 GJA1 2697 HP:0000430 Underdeveloped nasal alae OMIM:257850 GJA1 2697 HP:0000684 Delayed eruption of teeth OMIM:257850 GJA1 2697 HP:0001508 Failure to thrive OMIM:257850 GJA1 2697 HP:0003189 Long nose OMIM:257850 GJA1 2697 HP:0009917 Persistent pupillary membrane OMIM:257850 GJA1 2697 HP:0002007 Frontal bossing OMIM:257850 GJA1 2697 HP:0000327 Hypoplasia of the maxilla OMIM:257850 GJA1 2697 HP:0000233 Thin vermilion border OMIM:257850 GJA1 2697 HP:0000568 Microphthalmos OMIM:257850 GJA1 2697 HP:0000675 Macrodontia of permanent maxillary central incisor OMIM:257850 GJA1 2697 HP:0000007 Autosomal recessive inheritance OMIM:257850 GJA1 2697 HP:0000369 Low-set ears OMIM:257850 GJA1 2697 HP:0000506 Telecanthus OMIM:257850 GJA1 2697 HP:0005768 2-4 toe cutaneous syndactyly OMIM:257850 GJA1 2697 HP:0005622 Broad long bones OMIM:257850 GJA1 2697 HP:0000678 Dental crowding OMIM:257850 GJA1 2697 HP:0009748 Large earlobe OMIM:257850 GJA1 2697 HP:0000343 Long philtrum OMIM:257850 GJA1 2697 HP:0000248 Brachycephaly OMIM:257850 GJA1 2697 HP:0012745 Short palpebral fissure OMIM:257850 GJA1 2697 HP:0000518 Cataract OMIM:257850 GJA1 2697 HP:0000685 Hypoplasia of teeth OMIM:257850 GJA1 2697 HP:0001263 Global developmental delay OMIM:257850 GJA1 2697 HP:0000494 Downslanted palpebral fissures OMIM:257850 GJA1 2697 HP:0000653 Sparse eyelashes OMIM:257850 GJA1 2697 HP:0000682 Abnormality of dental enamel OMIM:257850 GJA1 2697 HP:0200055 Small hand OMIM:257850 GJA1 2697 HP:0000545 Myopia OMIM:300911 ATP6AP2 10159 HP:0003677 Slow progression OMIM:300911 ATP6AP2 10159 HP:0003487 Babinski sign OMIM:300911 ATP6AP2 10159 HP:0000007 Autosomal recessive inheritance OMIM:300911 ATP6AP2 10159 HP:0001300 Parkinsonism OMIM:300911 ATP6AP2 10159 HP:0002396 Cogwheel rigidity OMIM:300911 ATP6AP2 10159 HP:0001347 Hyperreflexia OMIM:300911 ATP6AP2 10159 HP:0002322 Resting tremor OMIM:300911 ATP6AP2 10159 HP:0002067 Bradykinesia OMIM:300911 ATP6AP2 10159 HP:0001257 Spasticity OMIM:615994 LZTFL1 54585 HP:0100543 Cognitive impairment OMIM:615994 LZTFL1 54585 HP:0000548 Cone-rod dystrophy OMIM:615994 LZTFL1 54585 HP:0100260 Mesoaxial polydactyly OMIM:615994 LZTFL1 54585 HP:0000135 Hypogonadism OMIM:615994 LZTFL1 54585 HP:0000546 Retinal degeneration OMIM:615994 LZTFL1 54585 HP:0001263 Global developmental delay OMIM:615994 LZTFL1 54585 HP:0000107 Renal cyst OMIM:615994 LZTFL1 54585 HP:0003241 External genital hypoplasia OMIM:615994 LZTFL1 54585 HP:0003774 Stage 5 chronic kidney disease OMIM:615994 LZTFL1 54585 HP:0001513 Obesity OMIM:615994 LZTFL1 54585 HP:0001156 Brachydactyly syndrome OMIM:615994 LZTFL1 54585 HP:0001696 Situs inversus totalis OMIM:615023 CERS3 204219 HP:0007431 Congenital ichthyosiform erythroderma OMIM:615023 CERS3 204219 HP:0000007 Autosomal recessive inheritance OMIM:137920 HNF1B 6928 HP:0001397 Hepatic steatosis OMIM:137920 HNF1B 6928 HP:0001080 Biliary tract abnormality OMIM:137920 HNF1B 6928 HP:0000006 Autosomal dominant inheritance OMIM:137920 HNF1B 6928 HP:0000074 Ureteropelvic junction obstruction OMIM:137920 HNF1B 6928 HP:0001382 Joint hypermobility OMIM:137920 HNF1B 6928 HP:0002149 Hyperuricemia OMIM:137920 HNF1B 6928 HP:0005563 Decreased numbers of nephrons OMIM:137920 HNF1B 6928 HP:0002120 Cerebral cortical atrophy OMIM:137920 HNF1B 6928 HP:0000003 Multicystic kidney dysplasia OMIM:137920 HNF1B 6928 HP:0003774 Stage 5 chronic kidney disease OMIM:137920 HNF1B 6928 HP:0001997 Gout OMIM:137920 HNF1B 6928 HP:0000122 Unilateral renal agenesis OMIM:137920 HNF1B 6928 HP:0000813 Bicornuate uterus OMIM:137920 HNF1B 6928 HP:0008678 Renal hypoplasia/aplasia OMIM:137920 HNF1B 6928 HP:0001738 Exocrine pancreatic insufficiency OMIM:137920 HNF1B 6928 HP:0000047 Hypospadias OMIM:137920 HNF1B 6928 HP:0000022 Abnormality of male internal genitalia OMIM:137920 HNF1B 6928 HP:0000819 Diabetes mellitus OMIM:137920 HNF1B 6928 HP:0000821 Hypothyroidism OMIM:137920 HNF1B 6928 HP:0003259 Elevated serum creatinine OMIM:137920 HNF1B 6928 HP:0000013 Hypoplasia of the uterus OMIM:137920 HNF1B 6928 HP:0000008 Abnormality of female internal genitalia OMIM:137920 HNF1B 6928 HP:0000787 Nephrolithiasis OMIM:137920 HNF1B 6928 HP:0100611 Multiple glomerular cysts OMIM:137920 HNF1B 6928 HP:0100800 Aplasia/Hypoplasia of the pancreas OMIM:137920 HNF1B 6928 HP:0100543 Cognitive impairment OMIM:137920 HNF1B 6928 HP:0000093 Proteinuria OMIM:137920 HNF1B 6928 HP:0000112 Nephropathy OMIM:137920 HNF1B 6928 HP:0000089 Renal hypoplasia OMIM:137920 HNF1B 6928 HP:0003076 Glycosuria OMIM:137920 HNF1B 6928 HP:0000365 Hearing impairment OMIM:137920 HNF1B 6928 HP:0002021 Pyloric stenosis OMIM:137920 HNF1B 6928 HP:0100627 Displacement of the external urethral meatus OMIM:137920 HNF1B 6928 HP:0004904 Maturity-onset diabetes of the young OMIM:137920 HNF1B 6928 HP:0000107 Renal cyst OMIM:137920 HNF1B 6928 HP:0000833 Glucose intolerance OMIM:137920 HNF1B 6928 HP:0000303 Mandibular prognathia OMIM:137920 HNF1B 6928 HP:0100542 Abnormal localization of kidney OMIM:137920 HNF1B 6928 HP:0003812 Phenotypic variability OMIM:137920 HNF1B 6928 HP:0002910 Elevated hepatic transaminases OMIM:137920 HNF1B 6928 HP:0002594 Pancreatic hypoplasia OMIM:137920 HNF1B 6928 HP:0004379 Abnormality of alkaline phosphatase activity OMIM:137920 HNF1B 6928 HP:0003674 Onset OMIM:137920 HNF1B 6928 HP:0001369 Arthritis OMIM:261640 PTS 5805 HP:0002344 Progressive neurologic deterioration OMIM:261640 PTS 5805 HP:0002063 Rigidity OMIM:261640 PTS 5805 HP:0001332 Dystonia OMIM:261640 PTS 5805 HP:0000007 Autosomal recessive inheritance OMIM:261640 PTS 5805 HP:0001262 Somnolence OMIM:261640 PTS 5805 HP:0006887 Intellectual disability, progressive OMIM:261640 PTS 5805 HP:0000252 Microcephaly OMIM:261640 PTS 5805 HP:0001251 Ataxia OMIM:261640 PTS 5805 HP:0001263 Global developmental delay OMIM:261640 PTS 5805 HP:0008936 Muscular hypotonia of the trunk OMIM:261640 PTS 5805 HP:0002033 Poor suck OMIM:261640 PTS 5805 HP:0001337 Tremor OMIM:261640 PTS 5805 HP:0001518 Small for gestational age OMIM:261640 PTS 5805 HP:0003781 Excessive salivation OMIM:261640 PTS 5805 HP:0000737 Irritability OMIM:261640 PTS 5805 HP:0004923 Hyperphenylalaninemia OMIM:261640 PTS 5805 HP:0001347 Hyperreflexia OMIM:261640 PTS 5805 HP:0001250 Seizures OMIM:261640 PTS 5805 HP:0002015 Dysphagia OMIM:261640 PTS 5805 HP:0001300 Parkinsonism OMIM:261640 PTS 5805 HP:0001266 Choreoathetosis OMIM:261640 PTS 5805 HP:0002067 Bradykinesia OMIM:261640 PTS 5805 HP:0001954 Episodic fever OMIM:613561 YARS2 51067 HP:0003128 Lactic acidosis OMIM:613561 YARS2 51067 HP:0000508 Ptosis OMIM:613561 YARS2 51067 HP:0001924 Sideroblastic anemia OMIM:613561 YARS2 51067 HP:0002151 Increased serum lactate OMIM:613561 YARS2 51067 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:613561 YARS2 51067 HP:0001639 Hypertrophic cardiomyopathy OMIM:613561 YARS2 51067 HP:0003323 Progressive muscle weakness OMIM:613561 YARS2 51067 HP:0003676 Progressive disorder OMIM:613561 YARS2 51067 HP:0002910 Elevated hepatic transaminases OMIM:613561 YARS2 51067 HP:0003812 Phenotypic variability OMIM:613561 YARS2 51067 HP:0001508 Failure to thrive OMIM:613561 YARS2 51067 HP:0002240 Hepatomegaly OMIM:613561 YARS2 51067 HP:0003700 Generalized amyotrophy OMIM:613561 YARS2 51067 HP:0003546 Exercise intolerance OMIM:613561 YARS2 51067 HP:0001510 Growth delay OMIM:613561 YARS2 51067 HP:0000007 Autosomal recessive inheritance OMIM:613561 YARS2 51067 HP:0000639 Nystagmus OMIM:613561 YARS2 51067 HP:0000486 Strabismus OMIM:613561 YARS2 51067 HP:0002015 Dysphagia ORPHANET:2554 CDC6 990 HP:0000028 Cryptorchidism ORPHANET:2554 CDC6 990 HP:0001363 Craniosynostosis ORPHANET:2554 CDC6 990 HP:0000160 Narrow mouth ORPHANET:2554 CDC6 990 HP:0006443 Patellar aplasia ORPHANET:2554 CDC6 990 HP:0008736 Hypoplasia of penis ORPHANET:2554 CDC6 990 HP:0100783 Breast aplasia ORPHANET:2554 CDC6 990 HP:0000889 Abnormality of the clavicle ORPHANET:2554 CDC6 990 HP:0001511 Intrauterine growth retardation ORPHANET:2554 CDC6 990 HP:0000175 Cleft palate ORPHANET:2554 CDC6 990 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2554 CDC6 990 HP:0005930 Abnormality of epiphysis morphology ORPHANET:2554 CDC6 990 HP:0100490 Camptodactyly of finger ORPHANET:2554 CDC6 990 HP:0000252 Microcephaly ORPHANET:2554 CDC6 990 HP:0001382 Joint hypermobility ORPHANET:2554 CDC6 990 HP:0010458 Female pseudohermaphroditism ORPHANET:2554 CDC6 990 HP:0003100 Slender long bone ORPHANET:2554 CDC6 990 HP:0002093 Respiratory insufficiency ORPHANET:2554 CDC6 990 HP:0000413 Atresia of the external auditory canal ORPHANET:2554 CDC6 990 HP:0100627 Displacement of the external urethral meatus ORPHANET:2554 CDC6 990 HP:0003042 Elbow dislocation ORPHANET:2554 CDC6 990 HP:0000179 Thick lower lip vermilion ORPHANET:2554 CDC6 990 HP:0000347 Micrognathia ORPHANET:2554 CDC6 990 HP:0002750 Delayed skeletal maturation ORPHANET:2554 CDC6 990 HP:0004322 Short stature ORPHANET:2554 CDC6 990 HP:0000772 Abnormality of the ribs ORPHANET:2554 CDC6 990 HP:0100543 Cognitive impairment ORPHANET:2554 CDC6 990 HP:0000365 Hearing impairment ORPHANET:2554 CDC6 990 HP:0004209 Clinodactyly of the 5th finger ORPHANET:2554 ORC6 23594 HP:0000028 Cryptorchidism ORPHANET:2554 ORC6 23594 HP:0001363 Craniosynostosis ORPHANET:2554 ORC6 23594 HP:0000160 Narrow mouth ORPHANET:2554 ORC6 23594 HP:0006443 Patellar aplasia ORPHANET:2554 ORC6 23594 HP:0008736 Hypoplasia of penis ORPHANET:2554 ORC6 23594 HP:0100783 Breast aplasia ORPHANET:2554 ORC6 23594 HP:0000889 Abnormality of the clavicle ORPHANET:2554 ORC6 23594 HP:0001511 Intrauterine growth retardation ORPHANET:2554 ORC6 23594 HP:0000175 Cleft palate ORPHANET:2554 ORC6 23594 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2554 ORC6 23594 HP:0005930 Abnormality of epiphysis morphology ORPHANET:2554 ORC6 23594 HP:0100490 Camptodactyly of finger ORPHANET:2554 ORC6 23594 HP:0000252 Microcephaly ORPHANET:2554 ORC6 23594 HP:0001382 Joint hypermobility ORPHANET:2554 ORC6 23594 HP:0010458 Female pseudohermaphroditism ORPHANET:2554 ORC6 23594 HP:0003100 Slender long bone ORPHANET:2554 ORC6 23594 HP:0002093 Respiratory insufficiency ORPHANET:2554 ORC6 23594 HP:0000413 Atresia of the external auditory canal ORPHANET:2554 ORC6 23594 HP:0100627 Displacement of the external urethral meatus ORPHANET:2554 ORC6 23594 HP:0003042 Elbow dislocation ORPHANET:2554 ORC6 23594 HP:0000179 Thick lower lip vermilion ORPHANET:2554 ORC6 23594 HP:0000347 Micrognathia ORPHANET:2554 ORC6 23594 HP:0002750 Delayed skeletal maturation ORPHANET:2554 ORC6 23594 HP:0004322 Short stature ORPHANET:2554 ORC6 23594 HP:0000772 Abnormality of the ribs ORPHANET:2554 ORC6 23594 HP:0100543 Cognitive impairment ORPHANET:2554 ORC6 23594 HP:0000365 Hearing impairment ORPHANET:2554 ORC6 23594 HP:0004209 Clinodactyly of the 5th finger ORPHANET:2554 CDT1 81620 HP:0000028 Cryptorchidism ORPHANET:2554 CDT1 81620 HP:0001363 Craniosynostosis ORPHANET:2554 CDT1 81620 HP:0000160 Narrow mouth ORPHANET:2554 CDT1 81620 HP:0006443 Patellar aplasia ORPHANET:2554 CDT1 81620 HP:0008736 Hypoplasia of penis ORPHANET:2554 CDT1 81620 HP:0100783 Breast aplasia ORPHANET:2554 CDT1 81620 HP:0000889 Abnormality of the clavicle ORPHANET:2554 CDT1 81620 HP:0001511 Intrauterine growth retardation ORPHANET:2554 CDT1 81620 HP:0000175 Cleft palate ORPHANET:2554 CDT1 81620 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2554 CDT1 81620 HP:0005930 Abnormality of epiphysis morphology ORPHANET:2554 CDT1 81620 HP:0100490 Camptodactyly of finger ORPHANET:2554 CDT1 81620 HP:0000252 Microcephaly ORPHANET:2554 CDT1 81620 HP:0001382 Joint hypermobility ORPHANET:2554 CDT1 81620 HP:0010458 Female pseudohermaphroditism ORPHANET:2554 CDT1 81620 HP:0003100 Slender long bone ORPHANET:2554 CDT1 81620 HP:0002093 Respiratory insufficiency ORPHANET:2554 CDT1 81620 HP:0000413 Atresia of the external auditory canal ORPHANET:2554 CDT1 81620 HP:0100627 Displacement of the external urethral meatus ORPHANET:2554 CDT1 81620 HP:0003042 Elbow dislocation ORPHANET:2554 CDT1 81620 HP:0000179 Thick lower lip vermilion ORPHANET:2554 CDT1 81620 HP:0000347 Micrognathia ORPHANET:2554 CDT1 81620 HP:0002750 Delayed skeletal maturation ORPHANET:2554 CDT1 81620 HP:0004322 Short stature ORPHANET:2554 CDT1 81620 HP:0000772 Abnormality of the ribs ORPHANET:2554 CDT1 81620 HP:0100543 Cognitive impairment ORPHANET:2554 CDT1 81620 HP:0000365 Hearing impairment ORPHANET:2554 CDT1 81620 HP:0004209 Clinodactyly of the 5th finger ORPHANET:2554 ORC4 5000 HP:0000028 Cryptorchidism ORPHANET:2554 ORC4 5000 HP:0001363 Craniosynostosis ORPHANET:2554 ORC4 5000 HP:0000160 Narrow mouth ORPHANET:2554 ORC4 5000 HP:0006443 Patellar aplasia ORPHANET:2554 ORC4 5000 HP:0008736 Hypoplasia of penis ORPHANET:2554 ORC4 5000 HP:0100783 Breast aplasia ORPHANET:2554 ORC4 5000 HP:0000889 Abnormality of the clavicle ORPHANET:2554 ORC4 5000 HP:0001511 Intrauterine growth retardation ORPHANET:2554 ORC4 5000 HP:0000175 Cleft palate ORPHANET:2554 ORC4 5000 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2554 ORC4 5000 HP:0005930 Abnormality of epiphysis morphology ORPHANET:2554 ORC4 5000 HP:0100490 Camptodactyly of finger ORPHANET:2554 ORC4 5000 HP:0000252 Microcephaly ORPHANET:2554 ORC4 5000 HP:0001382 Joint hypermobility ORPHANET:2554 ORC4 5000 HP:0010458 Female pseudohermaphroditism ORPHANET:2554 ORC4 5000 HP:0003100 Slender long bone ORPHANET:2554 ORC4 5000 HP:0002093 Respiratory insufficiency ORPHANET:2554 ORC4 5000 HP:0000413 Atresia of the external auditory canal ORPHANET:2554 ORC4 5000 HP:0100627 Displacement of the external urethral meatus ORPHANET:2554 ORC4 5000 HP:0003042 Elbow dislocation ORPHANET:2554 ORC4 5000 HP:0000179 Thick lower lip vermilion ORPHANET:2554 ORC4 5000 HP:0000347 Micrognathia ORPHANET:2554 ORC4 5000 HP:0002750 Delayed skeletal maturation ORPHANET:2554 ORC4 5000 HP:0004322 Short stature ORPHANET:2554 ORC4 5000 HP:0000772 Abnormality of the ribs ORPHANET:2554 ORC4 5000 HP:0100543 Cognitive impairment ORPHANET:2554 ORC4 5000 HP:0000365 Hearing impairment ORPHANET:2554 ORC4 5000 HP:0004209 Clinodactyly of the 5th finger ORPHANET:2554 ORC1 4998 HP:0000028 Cryptorchidism ORPHANET:2554 ORC1 4998 HP:0001363 Craniosynostosis ORPHANET:2554 ORC1 4998 HP:0000160 Narrow mouth ORPHANET:2554 ORC1 4998 HP:0006443 Patellar aplasia ORPHANET:2554 ORC1 4998 HP:0008736 Hypoplasia of penis ORPHANET:2554 ORC1 4998 HP:0100783 Breast aplasia ORPHANET:2554 ORC1 4998 HP:0000889 Abnormality of the clavicle ORPHANET:2554 ORC1 4998 HP:0001511 Intrauterine growth retardation ORPHANET:2554 ORC1 4998 HP:0000175 Cleft palate ORPHANET:2554 ORC1 4998 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2554 ORC1 4998 HP:0005930 Abnormality of epiphysis morphology ORPHANET:2554 ORC1 4998 HP:0100490 Camptodactyly of finger ORPHANET:2554 ORC1 4998 HP:0000252 Microcephaly ORPHANET:2554 ORC1 4998 HP:0001382 Joint hypermobility ORPHANET:2554 ORC1 4998 HP:0010458 Female pseudohermaphroditism ORPHANET:2554 ORC1 4998 HP:0003100 Slender long bone ORPHANET:2554 ORC1 4998 HP:0002093 Respiratory insufficiency ORPHANET:2554 ORC1 4998 HP:0000413 Atresia of the external auditory canal ORPHANET:2554 ORC1 4998 HP:0100627 Displacement of the external urethral meatus ORPHANET:2554 ORC1 4998 HP:0003042 Elbow dislocation ORPHANET:2554 ORC1 4998 HP:0000179 Thick lower lip vermilion ORPHANET:2554 ORC1 4998 HP:0000347 Micrognathia ORPHANET:2554 ORC1 4998 HP:0002750 Delayed skeletal maturation ORPHANET:2554 ORC1 4998 HP:0004322 Short stature ORPHANET:2554 ORC1 4998 HP:0000772 Abnormality of the ribs ORPHANET:2554 ORC1 4998 HP:0100543 Cognitive impairment ORPHANET:2554 ORC1 4998 HP:0000365 Hearing impairment ORPHANET:2554 ORC1 4998 HP:0004209 Clinodactyly of the 5th finger OMIM:600740 AP2S1 1175 HP:0002918 Hypermagnesemia OMIM:600740 AP2S1 1175 HP:0000787 Nephrolithiasis OMIM:600740 AP2S1 1175 HP:0008200 Primary hyperparathyroidism OMIM:600740 AP2S1 1175 HP:0001733 Pancreatitis OMIM:600740 AP2S1 1175 HP:0003127 Hypocalciuria OMIM:600740 AP2S1 1175 HP:0001012 Multiple lipomas OMIM:600740 AP2S1 1175 HP:0003072 Hypercalcemia OMIM:600740 AP2S1 1175 HP:0000934 Chondrocalcinosis OMIM:600740 AP2S1 1175 HP:0004398 Peptic ulcer OMIM:600740 AP2S1 1175 HP:0003529 Parathormone-independent increased renal tubular calcium reabsorption OMIM:616239 NARS2 79731 HP:0010628 Facial palsy OMIM:616239 NARS2 79731 HP:0003198 Myopathy OMIM:616239 NARS2 79731 HP:0000252 Microcephaly OMIM:616239 NARS2 79731 HP:0003202 Skeletal muscle atrophy OMIM:616239 NARS2 79731 HP:0001256 Intellectual disability, mild OMIM:616239 NARS2 79731 HP:0001260 Dysarthria OMIM:616239 NARS2 79731 HP:0001250 Seizures OMIM:600376 ACVRL1 94 HP:0002573 Hematochezia OMIM:600376 ACVRL1 94 HP:0002076 Migraine OMIM:600376 ACVRL1 94 HP:0000434 Nasal mucosa telangiectasia OMIM:600376 ACVRL1 94 HP:0000006 Autosomal dominant inheritance OMIM:600376 ACVRL1 94 HP:0030049 Brain abscess OMIM:600376 ACVRL1 94 HP:0004406 Spontaneous, recurrent epistaxis OMIM:600376 ACVRL1 94 HP:0002604 Gastrointestinal telangiectasia OMIM:600376 ACVRL1 94 HP:0002408 Cerebral arteriovenous malformation OMIM:600376 ACVRL1 94 HP:0006548 Pulmonary arteriovenous malformation OMIM:600376 ACVRL1 94 HP:0001903 Anemia OMIM:600376 ACVRL1 94 HP:0006574 Hepatic arteriovenous malformation OMIM:600376 ACVRL1 94 HP:0000227 Tongue telangiectasia OMIM:600376 ACVRL1 94 HP:0001901 Polycythemia OMIM:600376 ACVRL1 94 HP:0001394 Cirrhosis OMIM:600376 ACVRL1 94 HP:0000961 Cyanosis OMIM:600376 ACVRL1 94 HP:0002094 Dyspnea OMIM:600376 ACVRL1 94 HP:0002249 Melena OMIM:600376 ACVRL1 94 HP:0001232 Nail bed telangiectasia OMIM:600376 ACVRL1 94 HP:0000471 Gastrointestinal angiodysplasia OMIM:600376 ACVRL1 94 HP:0002629 Gastrointestinal arteriovenous malformation OMIM:600376 ACVRL1 94 HP:0002140 Ischemic stroke OMIM:600376 ACVRL1 94 HP:0001694 Right-to-left shunt OMIM:600376 ACVRL1 94 HP:0006107 Fingerpad telangiectases OMIM:600376 ACVRL1 94 HP:0001250 Seizures OMIM:600376 ACVRL1 94 HP:0002092 Pulmonary hypertension OMIM:600376 ACVRL1 94 HP:0002390 Spinal arteriovenous malformation OMIM:600376 ACVRL1 94 HP:0000524 Conjunctival telangiectasia OMIM:600376 ACVRL1 94 HP:0002248 Hematemesis OMIM:600376 ACVRL1 94 HP:0002326 Transient ischemic attack OMIM:600376 ACVRL1 94 HP:0000214 Lip telangiectasia OMIM:600376 ACVRL1 94 HP:0002707 Palate telangiectasia OMIM:600376 ACVRL1 94 HP:0000822 Hypertension OMIM:600376 ACVRL1 94 HP:0002138 Subarachnoid hemorrhage OMIM:600376 ACVRL1 94 HP:0001217 Clubbing OMIM:600376 ACVRL1 94 HP:0001342 Cerebral hemorrhage OMIM:200100 MTTP 4547 HP:0007703 Abnormal retinal pigmentation OMIM:200100 MTTP 4547 HP:0001251 Ataxia OMIM:200100 MTTP 4547 HP:0002630 Fat malabsorption OMIM:200100 MTTP 4547 HP:0002024 Malabsorption OMIM:200100 MTTP 4547 HP:0011096 Peripheral demyelination OMIM:200100 MTTP 4547 HP:0000007 Autosomal recessive inheritance OMIM:200100 MTTP 4547 HP:0001252 Muscular hypotonia OMIM:200100 MTTP 4547 HP:0100022 Abnormality of movement OMIM:200100 MTTP 4547 HP:0008181 Abetalipoproteinemia OMIM:200100 MTTP 4547 HP:0001927 Acanthocytosis OMIM:200100 MTTP 4547 HP:0001146 Pigmentary retinal degeneration OMIM:200100 MTTP 4547 HP:0007305 CNS demyelination OMIM:200100 MTTP 4547 HP:0000505 Visual impairment OMIM:200100 MTTP 4547 HP:0000488 Retinopathy OMIM:200100 MTTP 4547 HP:0002311 Incoordination OMIM:200100 MTTP 4547 HP:0001315 Reduced tendon reflexes ORPHANET:912 PEX19 5824 HP:0000256 Macrocephaly ORPHANET:912 PEX19 5824 HP:0000174 Abnormality of the palate ORPHANET:912 PEX19 5824 HP:0000639 Nystagmus ORPHANET:912 PEX19 5824 HP:0001315 Reduced tendon reflexes ORPHANET:912 PEX19 5824 HP:0000582 Upslanted palpebral fissure ORPHANET:912 PEX19 5824 HP:0004322 Short stature ORPHANET:912 PEX19 5824 HP:0002652 Skeletal dysplasia ORPHANET:912 PEX19 5824 HP:0002648 Abnormality of calvarial morphology ORPHANET:912 PEX19 5824 HP:0009891 Underdeveloped supraorbital ridges ORPHANET:912 PEX19 5824 HP:0002021 Pyloric stenosis ORPHANET:912 PEX19 5824 HP:0000407 Sensorineural hearing impairment ORPHANET:912 PEX19 5824 HP:0000348 High forehead ORPHANET:912 PEX19 5824 HP:0008872 Feeding difficulties in infancy ORPHANET:912 PEX19 5824 HP:0002353 EEG abnormality ORPHANET:912 PEX19 5824 HP:0002024 Malabsorption ORPHANET:912 PEX19 5824 HP:0001622 Premature birth ORPHANET:912 PEX19 5824 HP:0002093 Respiratory insufficiency ORPHANET:912 PEX19 5824 HP:0007759 Opacification of the corneal stroma ORPHANET:912 PEX19 5824 HP:0000157 Abnormality of the tongue ORPHANET:912 PEX19 5824 HP:0002269 Abnormality of neuronal migration ORPHANET:912 PEX19 5824 HP:0000028 Cryptorchidism ORPHANET:912 PEX19 5824 HP:0000474 Thickened nuchal skin fold ORPHANET:912 PEX19 5824 HP:0001088 Brushfield spots ORPHANET:912 PEX19 5824 HP:0010655 Epiphyseal stippling ORPHANET:912 PEX19 5824 HP:0000272 Malar flattening ORPHANET:912 PEX19 5824 HP:0000003 Multicystic kidney dysplasia ORPHANET:912 PEX19 5824 HP:0000501 Glaucoma ORPHANET:912 PEX19 5824 HP:0000648 Optic atrophy ORPHANET:912 PEX19 5824 HP:0001252 Muscular hypotonia ORPHANET:912 PEX19 5824 HP:0000532 Chorioretinal abnormality ORPHANET:912 PEX19 5824 HP:0010458 Female pseudohermaphroditism ORPHANET:912 PEX19 5824 HP:0001250 Seizures ORPHANET:912 PEX19 5824 HP:0000286 Epicanthus ORPHANET:912 PEX19 5824 HP:0001629 Ventricular septal defect ORPHANET:912 PEX19 5824 HP:0001928 Abnormality of coagulation ORPHANET:912 PEX19 5824 HP:0100627 Displacement of the external urethral meatus ORPHANET:912 PEX19 5824 HP:0000627 Posterior embryotoxon ORPHANET:912 PEX19 5824 HP:0100543 Cognitive impairment ORPHANET:912 PEX19 5824 HP:0000518 Cataract ORPHANET:912 PEX19 5824 HP:0008207 Primary adrenal insufficiency ORPHANET:912 PEX19 5824 HP:0005280 Depressed nasal bridge ORPHANET:912 PEX19 5824 HP:0002240 Hepatomegaly ORPHANET:912 PEX19 5824 HP:0008572 External ear malformation ORPHANET:912 PEX19 5824 HP:0001399 Hepatic failure ORPHANET:912 PEX19 5824 HP:0000505 Visual impairment ORPHANET:912 PEX19 5824 HP:0000252 Microcephaly ORPHANET:912 PEX19 5824 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:912 PEX19 5824 HP:0000347 Micrognathia ORPHANET:912 PEX12 5193 HP:0000256 Macrocephaly ORPHANET:912 PEX12 5193 HP:0000174 Abnormality of the palate ORPHANET:912 PEX12 5193 HP:0000639 Nystagmus ORPHANET:912 PEX12 5193 HP:0001315 Reduced tendon reflexes ORPHANET:912 PEX12 5193 HP:0000582 Upslanted palpebral fissure ORPHANET:912 PEX12 5193 HP:0004322 Short stature ORPHANET:912 PEX12 5193 HP:0002652 Skeletal dysplasia ORPHANET:912 PEX12 5193 HP:0002648 Abnormality of calvarial morphology ORPHANET:912 PEX12 5193 HP:0009891 Underdeveloped supraorbital ridges ORPHANET:912 PEX12 5193 HP:0002021 Pyloric stenosis ORPHANET:912 PEX12 5193 HP:0000407 Sensorineural hearing impairment ORPHANET:912 PEX12 5193 HP:0000348 High forehead ORPHANET:912 PEX12 5193 HP:0008872 Feeding difficulties in infancy ORPHANET:912 PEX12 5193 HP:0002353 EEG abnormality ORPHANET:912 PEX12 5193 HP:0002024 Malabsorption ORPHANET:912 PEX12 5193 HP:0001622 Premature birth ORPHANET:912 PEX12 5193 HP:0002093 Respiratory insufficiency ORPHANET:912 PEX12 5193 HP:0007759 Opacification of the corneal stroma ORPHANET:912 PEX12 5193 HP:0000157 Abnormality of the tongue ORPHANET:912 PEX12 5193 HP:0002269 Abnormality of neuronal migration ORPHANET:912 PEX12 5193 HP:0000028 Cryptorchidism ORPHANET:912 PEX12 5193 HP:0000474 Thickened nuchal skin fold ORPHANET:912 PEX12 5193 HP:0001088 Brushfield spots ORPHANET:912 PEX12 5193 HP:0010655 Epiphyseal stippling ORPHANET:912 PEX12 5193 HP:0000272 Malar flattening ORPHANET:912 PEX12 5193 HP:0000003 Multicystic kidney dysplasia ORPHANET:912 PEX12 5193 HP:0000501 Glaucoma ORPHANET:912 PEX12 5193 HP:0000648 Optic atrophy ORPHANET:912 PEX12 5193 HP:0001252 Muscular hypotonia ORPHANET:912 PEX12 5193 HP:0000532 Chorioretinal abnormality ORPHANET:912 PEX12 5193 HP:0010458 Female pseudohermaphroditism ORPHANET:912 PEX12 5193 HP:0001250 Seizures ORPHANET:912 PEX12 5193 HP:0000286 Epicanthus ORPHANET:912 PEX12 5193 HP:0001629 Ventricular septal defect ORPHANET:912 PEX12 5193 HP:0001928 Abnormality of coagulation ORPHANET:912 PEX12 5193 HP:0100627 Displacement of the external urethral meatus ORPHANET:912 PEX12 5193 HP:0000627 Posterior embryotoxon ORPHANET:912 PEX12 5193 HP:0100543 Cognitive impairment ORPHANET:912 PEX12 5193 HP:0000518 Cataract ORPHANET:912 PEX12 5193 HP:0008207 Primary adrenal insufficiency ORPHANET:912 PEX12 5193 HP:0005280 Depressed nasal bridge ORPHANET:912 PEX12 5193 HP:0002240 Hepatomegaly ORPHANET:912 PEX12 5193 HP:0008572 External ear malformation ORPHANET:912 PEX12 5193 HP:0001399 Hepatic failure ORPHANET:912 PEX12 5193 HP:0000505 Visual impairment ORPHANET:912 PEX12 5193 HP:0000252 Microcephaly ORPHANET:912 PEX12 5193 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:912 PEX12 5193 HP:0000347 Micrognathia ORPHANET:912 PEX2 5828 HP:0000256 Macrocephaly ORPHANET:912 PEX2 5828 HP:0000174 Abnormality of the palate ORPHANET:912 PEX2 5828 HP:0000639 Nystagmus ORPHANET:912 PEX2 5828 HP:0001315 Reduced tendon reflexes ORPHANET:912 PEX2 5828 HP:0000582 Upslanted palpebral fissure ORPHANET:912 PEX2 5828 HP:0004322 Short stature ORPHANET:912 PEX2 5828 HP:0002652 Skeletal dysplasia ORPHANET:912 PEX2 5828 HP:0002648 Abnormality of calvarial morphology ORPHANET:912 PEX2 5828 HP:0009891 Underdeveloped supraorbital ridges ORPHANET:912 PEX2 5828 HP:0002021 Pyloric stenosis ORPHANET:912 PEX2 5828 HP:0000407 Sensorineural hearing impairment ORPHANET:912 PEX2 5828 HP:0000348 High forehead ORPHANET:912 PEX2 5828 HP:0008872 Feeding difficulties in infancy ORPHANET:912 PEX2 5828 HP:0002353 EEG abnormality ORPHANET:912 PEX2 5828 HP:0002024 Malabsorption ORPHANET:912 PEX2 5828 HP:0001622 Premature birth ORPHANET:912 PEX2 5828 HP:0002093 Respiratory insufficiency ORPHANET:912 PEX2 5828 HP:0007759 Opacification of the corneal stroma ORPHANET:912 PEX2 5828 HP:0000157 Abnormality of the tongue ORPHANET:912 PEX2 5828 HP:0002269 Abnormality of neuronal migration ORPHANET:912 PEX2 5828 HP:0000028 Cryptorchidism ORPHANET:912 PEX2 5828 HP:0000474 Thickened nuchal skin fold ORPHANET:912 PEX2 5828 HP:0001088 Brushfield spots ORPHANET:912 PEX2 5828 HP:0010655 Epiphyseal stippling ORPHANET:912 PEX2 5828 HP:0000272 Malar flattening ORPHANET:912 PEX2 5828 HP:0000003 Multicystic kidney dysplasia ORPHANET:912 PEX2 5828 HP:0000501 Glaucoma ORPHANET:912 PEX2 5828 HP:0000648 Optic atrophy ORPHANET:912 PEX2 5828 HP:0001252 Muscular hypotonia ORPHANET:912 PEX2 5828 HP:0000532 Chorioretinal abnormality ORPHANET:912 PEX2 5828 HP:0010458 Female pseudohermaphroditism ORPHANET:912 PEX2 5828 HP:0001250 Seizures ORPHANET:912 PEX2 5828 HP:0000286 Epicanthus ORPHANET:912 PEX2 5828 HP:0001629 Ventricular septal defect ORPHANET:912 PEX2 5828 HP:0001928 Abnormality of coagulation ORPHANET:912 PEX2 5828 HP:0100627 Displacement of the external urethral meatus ORPHANET:912 PEX2 5828 HP:0000627 Posterior embryotoxon ORPHANET:912 PEX2 5828 HP:0100543 Cognitive impairment ORPHANET:912 PEX2 5828 HP:0000518 Cataract ORPHANET:912 PEX2 5828 HP:0008207 Primary adrenal insufficiency ORPHANET:912 PEX2 5828 HP:0005280 Depressed nasal bridge ORPHANET:912 PEX2 5828 HP:0002240 Hepatomegaly ORPHANET:912 PEX2 5828 HP:0008572 External ear malformation ORPHANET:912 PEX2 5828 HP:0001399 Hepatic failure ORPHANET:912 PEX2 5828 HP:0000505 Visual impairment ORPHANET:912 PEX2 5828 HP:0000252 Microcephaly ORPHANET:912 PEX2 5828 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:912 PEX2 5828 HP:0000347 Micrognathia ORPHANET:912 PEX10 5192 HP:0000256 Macrocephaly ORPHANET:912 PEX10 5192 HP:0000174 Abnormality of the palate ORPHANET:912 PEX10 5192 HP:0000639 Nystagmus ORPHANET:912 PEX10 5192 HP:0001315 Reduced tendon reflexes ORPHANET:912 PEX10 5192 HP:0000582 Upslanted palpebral fissure ORPHANET:912 PEX10 5192 HP:0004322 Short stature ORPHANET:912 PEX10 5192 HP:0002652 Skeletal dysplasia ORPHANET:912 PEX10 5192 HP:0002648 Abnormality of calvarial morphology ORPHANET:912 PEX10 5192 HP:0009891 Underdeveloped supraorbital ridges ORPHANET:912 PEX10 5192 HP:0002021 Pyloric stenosis ORPHANET:912 PEX10 5192 HP:0000407 Sensorineural hearing impairment ORPHANET:912 PEX10 5192 HP:0000348 High forehead ORPHANET:912 PEX10 5192 HP:0008872 Feeding difficulties in infancy ORPHANET:912 PEX10 5192 HP:0002353 EEG abnormality ORPHANET:912 PEX10 5192 HP:0002024 Malabsorption ORPHANET:912 PEX10 5192 HP:0001622 Premature birth ORPHANET:912 PEX10 5192 HP:0002093 Respiratory insufficiency ORPHANET:912 PEX10 5192 HP:0007759 Opacification of the corneal stroma ORPHANET:912 PEX10 5192 HP:0000157 Abnormality of the tongue ORPHANET:912 PEX10 5192 HP:0002269 Abnormality of neuronal migration ORPHANET:912 PEX10 5192 HP:0000028 Cryptorchidism ORPHANET:912 PEX10 5192 HP:0000474 Thickened nuchal skin fold ORPHANET:912 PEX10 5192 HP:0001088 Brushfield spots ORPHANET:912 PEX10 5192 HP:0010655 Epiphyseal stippling ORPHANET:912 PEX10 5192 HP:0000272 Malar flattening ORPHANET:912 PEX10 5192 HP:0000003 Multicystic kidney dysplasia ORPHANET:912 PEX10 5192 HP:0000501 Glaucoma ORPHANET:912 PEX10 5192 HP:0000648 Optic atrophy ORPHANET:912 PEX10 5192 HP:0001252 Muscular hypotonia ORPHANET:912 PEX10 5192 HP:0000532 Chorioretinal abnormality ORPHANET:912 PEX10 5192 HP:0010458 Female pseudohermaphroditism ORPHANET:912 PEX10 5192 HP:0001250 Seizures ORPHANET:912 PEX10 5192 HP:0000286 Epicanthus ORPHANET:912 PEX10 5192 HP:0001629 Ventricular septal defect ORPHANET:912 PEX10 5192 HP:0001928 Abnormality of coagulation ORPHANET:912 PEX10 5192 HP:0100627 Displacement of the external urethral meatus ORPHANET:912 PEX10 5192 HP:0000627 Posterior embryotoxon ORPHANET:912 PEX10 5192 HP:0100543 Cognitive impairment ORPHANET:912 PEX10 5192 HP:0000518 Cataract ORPHANET:912 PEX10 5192 HP:0008207 Primary adrenal insufficiency ORPHANET:912 PEX10 5192 HP:0005280 Depressed nasal bridge ORPHANET:912 PEX10 5192 HP:0002240 Hepatomegaly ORPHANET:912 PEX10 5192 HP:0008572 External ear malformation ORPHANET:912 PEX10 5192 HP:0001399 Hepatic failure ORPHANET:912 PEX10 5192 HP:0000505 Visual impairment ORPHANET:912 PEX10 5192 HP:0000252 Microcephaly ORPHANET:912 PEX10 5192 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:912 PEX10 5192 HP:0000347 Micrognathia ORPHANET:912 PEX5 5830 HP:0000256 Macrocephaly ORPHANET:912 PEX5 5830 HP:0000174 Abnormality of the palate ORPHANET:912 PEX5 5830 HP:0000639 Nystagmus ORPHANET:912 PEX5 5830 HP:0001315 Reduced tendon reflexes ORPHANET:912 PEX5 5830 HP:0000582 Upslanted palpebral fissure ORPHANET:912 PEX5 5830 HP:0004322 Short stature ORPHANET:912 PEX5 5830 HP:0002652 Skeletal dysplasia ORPHANET:912 PEX5 5830 HP:0002648 Abnormality of calvarial morphology ORPHANET:912 PEX5 5830 HP:0009891 Underdeveloped supraorbital ridges ORPHANET:912 PEX5 5830 HP:0002021 Pyloric stenosis ORPHANET:912 PEX5 5830 HP:0000407 Sensorineural hearing impairment ORPHANET:912 PEX5 5830 HP:0000348 High forehead ORPHANET:912 PEX5 5830 HP:0008872 Feeding difficulties in infancy ORPHANET:912 PEX5 5830 HP:0002353 EEG abnormality ORPHANET:912 PEX5 5830 HP:0002024 Malabsorption ORPHANET:912 PEX5 5830 HP:0001622 Premature birth ORPHANET:912 PEX5 5830 HP:0002093 Respiratory insufficiency ORPHANET:912 PEX5 5830 HP:0007759 Opacification of the corneal stroma ORPHANET:912 PEX5 5830 HP:0000157 Abnormality of the tongue ORPHANET:912 PEX5 5830 HP:0002269 Abnormality of neuronal migration ORPHANET:912 PEX5 5830 HP:0000028 Cryptorchidism ORPHANET:912 PEX5 5830 HP:0000474 Thickened nuchal skin fold ORPHANET:912 PEX5 5830 HP:0001088 Brushfield spots ORPHANET:912 PEX5 5830 HP:0010655 Epiphyseal stippling ORPHANET:912 PEX5 5830 HP:0000272 Malar flattening ORPHANET:912 PEX5 5830 HP:0000003 Multicystic kidney dysplasia ORPHANET:912 PEX5 5830 HP:0000501 Glaucoma ORPHANET:912 PEX5 5830 HP:0000648 Optic atrophy ORPHANET:912 PEX5 5830 HP:0001252 Muscular hypotonia ORPHANET:912 PEX5 5830 HP:0000532 Chorioretinal abnormality ORPHANET:912 PEX5 5830 HP:0010458 Female pseudohermaphroditism ORPHANET:912 PEX5 5830 HP:0001250 Seizures ORPHANET:912 PEX5 5830 HP:0000286 Epicanthus ORPHANET:912 PEX5 5830 HP:0001629 Ventricular septal defect ORPHANET:912 PEX5 5830 HP:0001928 Abnormality of coagulation ORPHANET:912 PEX5 5830 HP:0100627 Displacement of the external urethral meatus ORPHANET:912 PEX5 5830 HP:0000627 Posterior embryotoxon ORPHANET:912 PEX5 5830 HP:0100543 Cognitive impairment ORPHANET:912 PEX5 5830 HP:0000518 Cataract ORPHANET:912 PEX5 5830 HP:0008207 Primary adrenal insufficiency ORPHANET:912 PEX5 5830 HP:0005280 Depressed nasal bridge ORPHANET:912 PEX5 5830 HP:0002240 Hepatomegaly ORPHANET:912 PEX5 5830 HP:0008572 External ear malformation ORPHANET:912 PEX5 5830 HP:0001399 Hepatic failure ORPHANET:912 PEX5 5830 HP:0000505 Visual impairment ORPHANET:912 PEX5 5830 HP:0000252 Microcephaly ORPHANET:912 PEX5 5830 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:912 PEX5 5830 HP:0000347 Micrognathia ORPHANET:912 PEX16 9409 HP:0000256 Macrocephaly ORPHANET:912 PEX16 9409 HP:0000174 Abnormality of the palate ORPHANET:912 PEX16 9409 HP:0000639 Nystagmus ORPHANET:912 PEX16 9409 HP:0001315 Reduced tendon reflexes ORPHANET:912 PEX16 9409 HP:0000582 Upslanted palpebral fissure ORPHANET:912 PEX16 9409 HP:0004322 Short stature ORPHANET:912 PEX16 9409 HP:0002652 Skeletal dysplasia ORPHANET:912 PEX16 9409 HP:0002648 Abnormality of calvarial morphology ORPHANET:912 PEX16 9409 HP:0009891 Underdeveloped supraorbital ridges ORPHANET:912 PEX16 9409 HP:0002021 Pyloric stenosis ORPHANET:912 PEX16 9409 HP:0000407 Sensorineural hearing impairment ORPHANET:912 PEX16 9409 HP:0000348 High forehead ORPHANET:912 PEX16 9409 HP:0008872 Feeding difficulties in infancy ORPHANET:912 PEX16 9409 HP:0002353 EEG abnormality ORPHANET:912 PEX16 9409 HP:0002024 Malabsorption ORPHANET:912 PEX16 9409 HP:0001622 Premature birth ORPHANET:912 PEX16 9409 HP:0002093 Respiratory insufficiency ORPHANET:912 PEX16 9409 HP:0007759 Opacification of the corneal stroma ORPHANET:912 PEX16 9409 HP:0000157 Abnormality of the tongue ORPHANET:912 PEX16 9409 HP:0002269 Abnormality of neuronal migration ORPHANET:912 PEX16 9409 HP:0000028 Cryptorchidism ORPHANET:912 PEX16 9409 HP:0000474 Thickened nuchal skin fold ORPHANET:912 PEX16 9409 HP:0001088 Brushfield spots ORPHANET:912 PEX16 9409 HP:0010655 Epiphyseal stippling ORPHANET:912 PEX16 9409 HP:0000272 Malar flattening ORPHANET:912 PEX16 9409 HP:0000003 Multicystic kidney dysplasia ORPHANET:912 PEX16 9409 HP:0000501 Glaucoma ORPHANET:912 PEX16 9409 HP:0000648 Optic atrophy ORPHANET:912 PEX16 9409 HP:0001252 Muscular hypotonia ORPHANET:912 PEX16 9409 HP:0000532 Chorioretinal abnormality ORPHANET:912 PEX16 9409 HP:0010458 Female pseudohermaphroditism ORPHANET:912 PEX16 9409 HP:0001250 Seizures ORPHANET:912 PEX16 9409 HP:0000286 Epicanthus ORPHANET:912 PEX16 9409 HP:0001629 Ventricular septal defect ORPHANET:912 PEX16 9409 HP:0001928 Abnormality of coagulation ORPHANET:912 PEX16 9409 HP:0100627 Displacement of the external urethral meatus ORPHANET:912 PEX16 9409 HP:0000627 Posterior embryotoxon ORPHANET:912 PEX16 9409 HP:0100543 Cognitive impairment ORPHANET:912 PEX16 9409 HP:0000518 Cataract ORPHANET:912 PEX16 9409 HP:0008207 Primary adrenal insufficiency ORPHANET:912 PEX16 9409 HP:0005280 Depressed nasal bridge ORPHANET:912 PEX16 9409 HP:0002240 Hepatomegaly ORPHANET:912 PEX16 9409 HP:0008572 External ear malformation ORPHANET:912 PEX16 9409 HP:0001399 Hepatic failure ORPHANET:912 PEX16 9409 HP:0000505 Visual impairment ORPHANET:912 PEX16 9409 HP:0000252 Microcephaly ORPHANET:912 PEX16 9409 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:912 PEX16 9409 HP:0000347 Micrognathia ORPHANET:912 PEX14 5195 HP:0000256 Macrocephaly ORPHANET:912 PEX14 5195 HP:0000174 Abnormality of the palate ORPHANET:912 PEX14 5195 HP:0000639 Nystagmus ORPHANET:912 PEX14 5195 HP:0001315 Reduced tendon reflexes ORPHANET:912 PEX14 5195 HP:0000582 Upslanted palpebral fissure ORPHANET:912 PEX14 5195 HP:0004322 Short stature ORPHANET:912 PEX14 5195 HP:0002652 Skeletal dysplasia ORPHANET:912 PEX14 5195 HP:0002648 Abnormality of calvarial morphology ORPHANET:912 PEX14 5195 HP:0009891 Underdeveloped supraorbital ridges ORPHANET:912 PEX14 5195 HP:0002021 Pyloric stenosis ORPHANET:912 PEX14 5195 HP:0000407 Sensorineural hearing impairment ORPHANET:912 PEX14 5195 HP:0000348 High forehead ORPHANET:912 PEX14 5195 HP:0008872 Feeding difficulties in infancy ORPHANET:912 PEX14 5195 HP:0002353 EEG abnormality ORPHANET:912 PEX14 5195 HP:0002024 Malabsorption ORPHANET:912 PEX14 5195 HP:0001622 Premature birth ORPHANET:912 PEX14 5195 HP:0002093 Respiratory insufficiency ORPHANET:912 PEX14 5195 HP:0007759 Opacification of the corneal stroma ORPHANET:912 PEX14 5195 HP:0000157 Abnormality of the tongue ORPHANET:912 PEX14 5195 HP:0002269 Abnormality of neuronal migration ORPHANET:912 PEX14 5195 HP:0000028 Cryptorchidism ORPHANET:912 PEX14 5195 HP:0000474 Thickened nuchal skin fold ORPHANET:912 PEX14 5195 HP:0001088 Brushfield spots ORPHANET:912 PEX14 5195 HP:0010655 Epiphyseal stippling ORPHANET:912 PEX14 5195 HP:0000272 Malar flattening ORPHANET:912 PEX14 5195 HP:0000003 Multicystic kidney dysplasia ORPHANET:912 PEX14 5195 HP:0000501 Glaucoma ORPHANET:912 PEX14 5195 HP:0000648 Optic atrophy ORPHANET:912 PEX14 5195 HP:0001252 Muscular hypotonia ORPHANET:912 PEX14 5195 HP:0000532 Chorioretinal abnormality ORPHANET:912 PEX14 5195 HP:0010458 Female pseudohermaphroditism ORPHANET:912 PEX14 5195 HP:0001250 Seizures ORPHANET:912 PEX14 5195 HP:0000286 Epicanthus ORPHANET:912 PEX14 5195 HP:0001629 Ventricular septal defect ORPHANET:912 PEX14 5195 HP:0001928 Abnormality of coagulation ORPHANET:912 PEX14 5195 HP:0100627 Displacement of the external urethral meatus ORPHANET:912 PEX14 5195 HP:0000627 Posterior embryotoxon ORPHANET:912 PEX14 5195 HP:0100543 Cognitive impairment ORPHANET:912 PEX14 5195 HP:0000518 Cataract ORPHANET:912 PEX14 5195 HP:0008207 Primary adrenal insufficiency ORPHANET:912 PEX14 5195 HP:0005280 Depressed nasal bridge ORPHANET:912 PEX14 5195 HP:0002240 Hepatomegaly ORPHANET:912 PEX14 5195 HP:0008572 External ear malformation ORPHANET:912 PEX14 5195 HP:0001399 Hepatic failure ORPHANET:912 PEX14 5195 HP:0000505 Visual impairment ORPHANET:912 PEX14 5195 HP:0000252 Microcephaly ORPHANET:912 PEX14 5195 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:912 PEX14 5195 HP:0000347 Micrognathia ORPHANET:912 PEX13 5194 HP:0000256 Macrocephaly ORPHANET:912 PEX13 5194 HP:0000174 Abnormality of the palate ORPHANET:912 PEX13 5194 HP:0000639 Nystagmus ORPHANET:912 PEX13 5194 HP:0001315 Reduced tendon reflexes ORPHANET:912 PEX13 5194 HP:0000582 Upslanted palpebral fissure ORPHANET:912 PEX13 5194 HP:0004322 Short stature ORPHANET:912 PEX13 5194 HP:0002652 Skeletal dysplasia ORPHANET:912 PEX13 5194 HP:0002648 Abnormality of calvarial morphology ORPHANET:912 PEX13 5194 HP:0009891 Underdeveloped supraorbital ridges ORPHANET:912 PEX13 5194 HP:0002021 Pyloric stenosis ORPHANET:912 PEX13 5194 HP:0000407 Sensorineural hearing impairment ORPHANET:912 PEX13 5194 HP:0000348 High forehead ORPHANET:912 PEX13 5194 HP:0008872 Feeding difficulties in infancy ORPHANET:912 PEX13 5194 HP:0002353 EEG abnormality ORPHANET:912 PEX13 5194 HP:0002024 Malabsorption ORPHANET:912 PEX13 5194 HP:0001622 Premature birth ORPHANET:912 PEX13 5194 HP:0002093 Respiratory insufficiency ORPHANET:912 PEX13 5194 HP:0007759 Opacification of the corneal stroma ORPHANET:912 PEX13 5194 HP:0000157 Abnormality of the tongue ORPHANET:912 PEX13 5194 HP:0002269 Abnormality of neuronal migration ORPHANET:912 PEX13 5194 HP:0000028 Cryptorchidism ORPHANET:912 PEX13 5194 HP:0000474 Thickened nuchal skin fold ORPHANET:912 PEX13 5194 HP:0001088 Brushfield spots ORPHANET:912 PEX13 5194 HP:0010655 Epiphyseal stippling ORPHANET:912 PEX13 5194 HP:0000272 Malar flattening ORPHANET:912 PEX13 5194 HP:0000003 Multicystic kidney dysplasia ORPHANET:912 PEX13 5194 HP:0000501 Glaucoma ORPHANET:912 PEX13 5194 HP:0000648 Optic atrophy ORPHANET:912 PEX13 5194 HP:0001252 Muscular hypotonia ORPHANET:912 PEX13 5194 HP:0000532 Chorioretinal abnormality ORPHANET:912 PEX13 5194 HP:0010458 Female pseudohermaphroditism ORPHANET:912 PEX13 5194 HP:0001250 Seizures ORPHANET:912 PEX13 5194 HP:0000286 Epicanthus ORPHANET:912 PEX13 5194 HP:0001629 Ventricular septal defect ORPHANET:912 PEX13 5194 HP:0001928 Abnormality of coagulation ORPHANET:912 PEX13 5194 HP:0100627 Displacement of the external urethral meatus ORPHANET:912 PEX13 5194 HP:0000627 Posterior embryotoxon ORPHANET:912 PEX13 5194 HP:0100543 Cognitive impairment ORPHANET:912 PEX13 5194 HP:0000518 Cataract ORPHANET:912 PEX13 5194 HP:0008207 Primary adrenal insufficiency ORPHANET:912 PEX13 5194 HP:0005280 Depressed nasal bridge ORPHANET:912 PEX13 5194 HP:0002240 Hepatomegaly ORPHANET:912 PEX13 5194 HP:0008572 External ear malformation ORPHANET:912 PEX13 5194 HP:0001399 Hepatic failure ORPHANET:912 PEX13 5194 HP:0000505 Visual impairment ORPHANET:912 PEX13 5194 HP:0000252 Microcephaly ORPHANET:912 PEX13 5194 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:912 PEX13 5194 HP:0000347 Micrognathia ORPHANET:912 PEX1 5189 HP:0000256 Macrocephaly ORPHANET:912 PEX1 5189 HP:0000174 Abnormality of the palate ORPHANET:912 PEX1 5189 HP:0000639 Nystagmus ORPHANET:912 PEX1 5189 HP:0001315 Reduced tendon reflexes ORPHANET:912 PEX1 5189 HP:0000582 Upslanted palpebral fissure ORPHANET:912 PEX1 5189 HP:0004322 Short stature ORPHANET:912 PEX1 5189 HP:0002652 Skeletal dysplasia ORPHANET:912 PEX1 5189 HP:0002648 Abnormality of calvarial morphology ORPHANET:912 PEX1 5189 HP:0009891 Underdeveloped supraorbital ridges ORPHANET:912 PEX1 5189 HP:0002021 Pyloric stenosis ORPHANET:912 PEX1 5189 HP:0000407 Sensorineural hearing impairment ORPHANET:912 PEX1 5189 HP:0000348 High forehead ORPHANET:912 PEX1 5189 HP:0008872 Feeding difficulties in infancy ORPHANET:912 PEX1 5189 HP:0002353 EEG abnormality ORPHANET:912 PEX1 5189 HP:0002024 Malabsorption ORPHANET:912 PEX1 5189 HP:0001622 Premature birth ORPHANET:912 PEX1 5189 HP:0002093 Respiratory insufficiency ORPHANET:912 PEX1 5189 HP:0007759 Opacification of the corneal stroma ORPHANET:912 PEX1 5189 HP:0000157 Abnormality of the tongue ORPHANET:912 PEX1 5189 HP:0002269 Abnormality of neuronal migration ORPHANET:912 PEX1 5189 HP:0000028 Cryptorchidism ORPHANET:912 PEX1 5189 HP:0000474 Thickened nuchal skin fold ORPHANET:912 PEX1 5189 HP:0001088 Brushfield spots ORPHANET:912 PEX1 5189 HP:0010655 Epiphyseal stippling ORPHANET:912 PEX1 5189 HP:0000272 Malar flattening ORPHANET:912 PEX1 5189 HP:0000003 Multicystic kidney dysplasia ORPHANET:912 PEX1 5189 HP:0000501 Glaucoma ORPHANET:912 PEX1 5189 HP:0000648 Optic atrophy ORPHANET:912 PEX1 5189 HP:0001252 Muscular hypotonia ORPHANET:912 PEX1 5189 HP:0000532 Chorioretinal abnormality ORPHANET:912 PEX1 5189 HP:0010458 Female pseudohermaphroditism ORPHANET:912 PEX1 5189 HP:0001250 Seizures ORPHANET:912 PEX1 5189 HP:0000286 Epicanthus ORPHANET:912 PEX1 5189 HP:0001629 Ventricular septal defect ORPHANET:912 PEX1 5189 HP:0001928 Abnormality of coagulation ORPHANET:912 PEX1 5189 HP:0100627 Displacement of the external urethral meatus ORPHANET:912 PEX1 5189 HP:0000627 Posterior embryotoxon ORPHANET:912 PEX1 5189 HP:0100543 Cognitive impairment ORPHANET:912 PEX1 5189 HP:0000518 Cataract ORPHANET:912 PEX1 5189 HP:0008207 Primary adrenal insufficiency ORPHANET:912 PEX1 5189 HP:0005280 Depressed nasal bridge ORPHANET:912 PEX1 5189 HP:0002240 Hepatomegaly ORPHANET:912 PEX1 5189 HP:0008572 External ear malformation ORPHANET:912 PEX1 5189 HP:0001399 Hepatic failure ORPHANET:912 PEX1 5189 HP:0000505 Visual impairment ORPHANET:912 PEX1 5189 HP:0000252 Microcephaly ORPHANET:912 PEX1 5189 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:912 PEX1 5189 HP:0000347 Micrognathia ORPHANET:912 PEX6 5190 HP:0000256 Macrocephaly ORPHANET:912 PEX6 5190 HP:0000174 Abnormality of the palate ORPHANET:912 PEX6 5190 HP:0000639 Nystagmus ORPHANET:912 PEX6 5190 HP:0001315 Reduced tendon reflexes ORPHANET:912 PEX6 5190 HP:0000582 Upslanted palpebral fissure ORPHANET:912 PEX6 5190 HP:0004322 Short stature ORPHANET:912 PEX6 5190 HP:0002652 Skeletal dysplasia ORPHANET:912 PEX6 5190 HP:0002648 Abnormality of calvarial morphology ORPHANET:912 PEX6 5190 HP:0009891 Underdeveloped supraorbital ridges ORPHANET:912 PEX6 5190 HP:0002021 Pyloric stenosis ORPHANET:912 PEX6 5190 HP:0000407 Sensorineural hearing impairment ORPHANET:912 PEX6 5190 HP:0000348 High forehead ORPHANET:912 PEX6 5190 HP:0008872 Feeding difficulties in infancy ORPHANET:912 PEX6 5190 HP:0002353 EEG abnormality ORPHANET:912 PEX6 5190 HP:0002024 Malabsorption ORPHANET:912 PEX6 5190 HP:0001622 Premature birth ORPHANET:912 PEX6 5190 HP:0002093 Respiratory insufficiency ORPHANET:912 PEX6 5190 HP:0007759 Opacification of the corneal stroma ORPHANET:912 PEX6 5190 HP:0000157 Abnormality of the tongue ORPHANET:912 PEX6 5190 HP:0002269 Abnormality of neuronal migration ORPHANET:912 PEX6 5190 HP:0000028 Cryptorchidism ORPHANET:912 PEX6 5190 HP:0000474 Thickened nuchal skin fold ORPHANET:912 PEX6 5190 HP:0001088 Brushfield spots ORPHANET:912 PEX6 5190 HP:0010655 Epiphyseal stippling ORPHANET:912 PEX6 5190 HP:0000272 Malar flattening ORPHANET:912 PEX6 5190 HP:0000003 Multicystic kidney dysplasia ORPHANET:912 PEX6 5190 HP:0000501 Glaucoma ORPHANET:912 PEX6 5190 HP:0000648 Optic atrophy ORPHANET:912 PEX6 5190 HP:0001252 Muscular hypotonia ORPHANET:912 PEX6 5190 HP:0000532 Chorioretinal abnormality ORPHANET:912 PEX6 5190 HP:0010458 Female pseudohermaphroditism ORPHANET:912 PEX6 5190 HP:0001250 Seizures ORPHANET:912 PEX6 5190 HP:0000286 Epicanthus ORPHANET:912 PEX6 5190 HP:0001629 Ventricular septal defect ORPHANET:912 PEX6 5190 HP:0001928 Abnormality of coagulation ORPHANET:912 PEX6 5190 HP:0100627 Displacement of the external urethral meatus ORPHANET:912 PEX6 5190 HP:0000627 Posterior embryotoxon ORPHANET:912 PEX6 5190 HP:0100543 Cognitive impairment ORPHANET:912 PEX6 5190 HP:0000518 Cataract ORPHANET:912 PEX6 5190 HP:0008207 Primary adrenal insufficiency ORPHANET:912 PEX6 5190 HP:0005280 Depressed nasal bridge ORPHANET:912 PEX6 5190 HP:0002240 Hepatomegaly ORPHANET:912 PEX6 5190 HP:0008572 External ear malformation ORPHANET:912 PEX6 5190 HP:0001399 Hepatic failure ORPHANET:912 PEX6 5190 HP:0000505 Visual impairment ORPHANET:912 PEX6 5190 HP:0000252 Microcephaly ORPHANET:912 PEX6 5190 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:912 PEX6 5190 HP:0000347 Micrognathia ORPHANET:912 PEX3 8504 HP:0000256 Macrocephaly ORPHANET:912 PEX3 8504 HP:0000174 Abnormality of the palate ORPHANET:912 PEX3 8504 HP:0000639 Nystagmus ORPHANET:912 PEX3 8504 HP:0001315 Reduced tendon reflexes ORPHANET:912 PEX3 8504 HP:0000582 Upslanted palpebral fissure ORPHANET:912 PEX3 8504 HP:0004322 Short stature ORPHANET:912 PEX3 8504 HP:0002652 Skeletal dysplasia ORPHANET:912 PEX3 8504 HP:0002648 Abnormality of calvarial morphology ORPHANET:912 PEX3 8504 HP:0009891 Underdeveloped supraorbital ridges ORPHANET:912 PEX3 8504 HP:0002021 Pyloric stenosis ORPHANET:912 PEX3 8504 HP:0000407 Sensorineural hearing impairment ORPHANET:912 PEX3 8504 HP:0000348 High forehead ORPHANET:912 PEX3 8504 HP:0008872 Feeding difficulties in infancy ORPHANET:912 PEX3 8504 HP:0002353 EEG abnormality ORPHANET:912 PEX3 8504 HP:0002024 Malabsorption ORPHANET:912 PEX3 8504 HP:0001622 Premature birth ORPHANET:912 PEX3 8504 HP:0002093 Respiratory insufficiency ORPHANET:912 PEX3 8504 HP:0007759 Opacification of the corneal stroma ORPHANET:912 PEX3 8504 HP:0000157 Abnormality of the tongue ORPHANET:912 PEX3 8504 HP:0002269 Abnormality of neuronal migration ORPHANET:912 PEX3 8504 HP:0000028 Cryptorchidism ORPHANET:912 PEX3 8504 HP:0000474 Thickened nuchal skin fold ORPHANET:912 PEX3 8504 HP:0001088 Brushfield spots ORPHANET:912 PEX3 8504 HP:0010655 Epiphyseal stippling ORPHANET:912 PEX3 8504 HP:0000272 Malar flattening ORPHANET:912 PEX3 8504 HP:0000003 Multicystic kidney dysplasia ORPHANET:912 PEX3 8504 HP:0000501 Glaucoma ORPHANET:912 PEX3 8504 HP:0000648 Optic atrophy ORPHANET:912 PEX3 8504 HP:0001252 Muscular hypotonia ORPHANET:912 PEX3 8504 HP:0000532 Chorioretinal abnormality ORPHANET:912 PEX3 8504 HP:0010458 Female pseudohermaphroditism ORPHANET:912 PEX3 8504 HP:0001250 Seizures ORPHANET:912 PEX3 8504 HP:0000286 Epicanthus ORPHANET:912 PEX3 8504 HP:0001629 Ventricular septal defect ORPHANET:912 PEX3 8504 HP:0001928 Abnormality of coagulation ORPHANET:912 PEX3 8504 HP:0100627 Displacement of the external urethral meatus ORPHANET:912 PEX3 8504 HP:0000627 Posterior embryotoxon ORPHANET:912 PEX3 8504 HP:0100543 Cognitive impairment ORPHANET:912 PEX3 8504 HP:0000518 Cataract ORPHANET:912 PEX3 8504 HP:0008207 Primary adrenal insufficiency ORPHANET:912 PEX3 8504 HP:0005280 Depressed nasal bridge ORPHANET:912 PEX3 8504 HP:0002240 Hepatomegaly ORPHANET:912 PEX3 8504 HP:0008572 External ear malformation ORPHANET:912 PEX3 8504 HP:0001399 Hepatic failure ORPHANET:912 PEX3 8504 HP:0000505 Visual impairment ORPHANET:912 PEX3 8504 HP:0000252 Microcephaly ORPHANET:912 PEX3 8504 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:912 PEX3 8504 HP:0000347 Micrognathia ORPHANET:912 PEX11B 8799 HP:0000256 Macrocephaly ORPHANET:912 PEX11B 8799 HP:0000174 Abnormality of the palate ORPHANET:912 PEX11B 8799 HP:0000639 Nystagmus ORPHANET:912 PEX11B 8799 HP:0001315 Reduced tendon reflexes ORPHANET:912 PEX11B 8799 HP:0000582 Upslanted palpebral fissure ORPHANET:912 PEX11B 8799 HP:0004322 Short stature ORPHANET:912 PEX11B 8799 HP:0002652 Skeletal dysplasia ORPHANET:912 PEX11B 8799 HP:0002648 Abnormality of calvarial morphology ORPHANET:912 PEX11B 8799 HP:0009891 Underdeveloped supraorbital ridges ORPHANET:912 PEX11B 8799 HP:0002021 Pyloric stenosis ORPHANET:912 PEX11B 8799 HP:0000407 Sensorineural hearing impairment ORPHANET:912 PEX11B 8799 HP:0000348 High forehead ORPHANET:912 PEX11B 8799 HP:0008872 Feeding difficulties in infancy ORPHANET:912 PEX11B 8799 HP:0002353 EEG abnormality ORPHANET:912 PEX11B 8799 HP:0002024 Malabsorption ORPHANET:912 PEX11B 8799 HP:0001622 Premature birth ORPHANET:912 PEX11B 8799 HP:0002093 Respiratory insufficiency ORPHANET:912 PEX11B 8799 HP:0007759 Opacification of the corneal stroma ORPHANET:912 PEX11B 8799 HP:0000157 Abnormality of the tongue ORPHANET:912 PEX11B 8799 HP:0002269 Abnormality of neuronal migration ORPHANET:912 PEX11B 8799 HP:0000028 Cryptorchidism ORPHANET:912 PEX11B 8799 HP:0000474 Thickened nuchal skin fold ORPHANET:912 PEX11B 8799 HP:0001088 Brushfield spots ORPHANET:912 PEX11B 8799 HP:0010655 Epiphyseal stippling ORPHANET:912 PEX11B 8799 HP:0000272 Malar flattening ORPHANET:912 PEX11B 8799 HP:0000003 Multicystic kidney dysplasia ORPHANET:912 PEX11B 8799 HP:0000501 Glaucoma ORPHANET:912 PEX11B 8799 HP:0000648 Optic atrophy ORPHANET:912 PEX11B 8799 HP:0001252 Muscular hypotonia ORPHANET:912 PEX11B 8799 HP:0000532 Chorioretinal abnormality ORPHANET:912 PEX11B 8799 HP:0010458 Female pseudohermaphroditism ORPHANET:912 PEX11B 8799 HP:0001250 Seizures ORPHANET:912 PEX11B 8799 HP:0000286 Epicanthus ORPHANET:912 PEX11B 8799 HP:0001629 Ventricular septal defect ORPHANET:912 PEX11B 8799 HP:0001928 Abnormality of coagulation ORPHANET:912 PEX11B 8799 HP:0100627 Displacement of the external urethral meatus ORPHANET:912 PEX11B 8799 HP:0000627 Posterior embryotoxon ORPHANET:912 PEX11B 8799 HP:0100543 Cognitive impairment ORPHANET:912 PEX11B 8799 HP:0000518 Cataract ORPHANET:912 PEX11B 8799 HP:0008207 Primary adrenal insufficiency ORPHANET:912 PEX11B 8799 HP:0005280 Depressed nasal bridge ORPHANET:912 PEX11B 8799 HP:0002240 Hepatomegaly ORPHANET:912 PEX11B 8799 HP:0008572 External ear malformation ORPHANET:912 PEX11B 8799 HP:0001399 Hepatic failure ORPHANET:912 PEX11B 8799 HP:0000505 Visual impairment ORPHANET:912 PEX11B 8799 HP:0000252 Microcephaly ORPHANET:912 PEX11B 8799 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:912 PEX11B 8799 HP:0000347 Micrognathia ORPHANET:912 PEX26 55670 HP:0000256 Macrocephaly ORPHANET:912 PEX26 55670 HP:0000174 Abnormality of the palate ORPHANET:912 PEX26 55670 HP:0000639 Nystagmus ORPHANET:912 PEX26 55670 HP:0001315 Reduced tendon reflexes ORPHANET:912 PEX26 55670 HP:0000582 Upslanted palpebral fissure ORPHANET:912 PEX26 55670 HP:0004322 Short stature ORPHANET:912 PEX26 55670 HP:0002652 Skeletal dysplasia ORPHANET:912 PEX26 55670 HP:0002648 Abnormality of calvarial morphology ORPHANET:912 PEX26 55670 HP:0009891 Underdeveloped supraorbital ridges ORPHANET:912 PEX26 55670 HP:0002021 Pyloric stenosis ORPHANET:912 PEX26 55670 HP:0000407 Sensorineural hearing impairment ORPHANET:912 PEX26 55670 HP:0000348 High forehead ORPHANET:912 PEX26 55670 HP:0008872 Feeding difficulties in infancy ORPHANET:912 PEX26 55670 HP:0002353 EEG abnormality ORPHANET:912 PEX26 55670 HP:0002024 Malabsorption ORPHANET:912 PEX26 55670 HP:0001622 Premature birth ORPHANET:912 PEX26 55670 HP:0002093 Respiratory insufficiency ORPHANET:912 PEX26 55670 HP:0007759 Opacification of the corneal stroma ORPHANET:912 PEX26 55670 HP:0000157 Abnormality of the tongue ORPHANET:912 PEX26 55670 HP:0002269 Abnormality of neuronal migration ORPHANET:912 PEX26 55670 HP:0000028 Cryptorchidism ORPHANET:912 PEX26 55670 HP:0000474 Thickened nuchal skin fold ORPHANET:912 PEX26 55670 HP:0001088 Brushfield spots ORPHANET:912 PEX26 55670 HP:0010655 Epiphyseal stippling ORPHANET:912 PEX26 55670 HP:0000272 Malar flattening ORPHANET:912 PEX26 55670 HP:0000003 Multicystic kidney dysplasia ORPHANET:912 PEX26 55670 HP:0000501 Glaucoma ORPHANET:912 PEX26 55670 HP:0000648 Optic atrophy ORPHANET:912 PEX26 55670 HP:0001252 Muscular hypotonia ORPHANET:912 PEX26 55670 HP:0000532 Chorioretinal abnormality ORPHANET:912 PEX26 55670 HP:0010458 Female pseudohermaphroditism ORPHANET:912 PEX26 55670 HP:0001250 Seizures ORPHANET:912 PEX26 55670 HP:0000286 Epicanthus ORPHANET:912 PEX26 55670 HP:0001629 Ventricular septal defect ORPHANET:912 PEX26 55670 HP:0001928 Abnormality of coagulation ORPHANET:912 PEX26 55670 HP:0100627 Displacement of the external urethral meatus ORPHANET:912 PEX26 55670 HP:0000627 Posterior embryotoxon ORPHANET:912 PEX26 55670 HP:0100543 Cognitive impairment ORPHANET:912 PEX26 55670 HP:0000518 Cataract ORPHANET:912 PEX26 55670 HP:0008207 Primary adrenal insufficiency ORPHANET:912 PEX26 55670 HP:0005280 Depressed nasal bridge ORPHANET:912 PEX26 55670 HP:0002240 Hepatomegaly ORPHANET:912 PEX26 55670 HP:0008572 External ear malformation ORPHANET:912 PEX26 55670 HP:0001399 Hepatic failure ORPHANET:912 PEX26 55670 HP:0000505 Visual impairment ORPHANET:912 PEX26 55670 HP:0000252 Microcephaly ORPHANET:912 PEX26 55670 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:912 PEX26 55670 HP:0000347 Micrognathia OMIM:612336 PROS1 5627 HP:0005305 Cerebral venous thrombosis OMIM:612336 PROS1 5627 HP:0004855 Reduced protein S activity OMIM:612336 PROS1 5627 HP:0100724 Hypercoagulability OMIM:612336 PROS1 5627 HP:0002638 Superficial thrombophlebitis OMIM:612336 PROS1 5627 HP:0002204 Pulmonary embolism OMIM:612336 PROS1 5627 HP:0000979 Purpura OMIM:612336 PROS1 5627 HP:0004420 Arterial thrombosis OMIM:612336 PROS1 5627 HP:0001038 Warfarin-induced skin necrosis OMIM:612336 PROS1 5627 HP:0000006 Autosomal dominant inheritance OMIM:614501 SNIP1 79753 HP:0012802 Broad jaw OMIM:614501 SNIP1 79753 HP:0001999 Abnormal facial shape OMIM:614501 SNIP1 79753 HP:0001252 Muscular hypotonia OMIM:614501 SNIP1 79753 HP:0002079 Hypoplasia of the corpus callosum OMIM:614501 SNIP1 79753 HP:0000666 Horizontal nystagmus OMIM:614501 SNIP1 79753 HP:0011968 Feeding difficulties OMIM:614501 SNIP1 79753 HP:0003429 CNS hypomyelination OMIM:614501 SNIP1 79753 HP:0000154 Wide mouth OMIM:614501 SNIP1 79753 HP:0001650 Aortic valve stenosis OMIM:614501 SNIP1 79753 HP:0000486 Strabismus OMIM:614501 SNIP1 79753 HP:0000007 Autosomal recessive inheritance OMIM:614501 SNIP1 79753 HP:0002119 Ventriculomegaly OMIM:614501 SNIP1 79753 HP:0000158 Macroglossia OMIM:614501 SNIP1 79753 HP:0000414 Bulbous nose OMIM:614501 SNIP1 79753 HP:0001250 Seizures OMIM:614501 SNIP1 79753 HP:0004279 Short palm OMIM:614501 SNIP1 79753 HP:0002353 EEG abnormality OMIM:614501 SNIP1 79753 HP:0001647 Bicuspid aortic valve OMIM:614501 SNIP1 79753 HP:0001265 Hyporeflexia OMIM:614501 SNIP1 79753 HP:0001182 Tapered finger OMIM:614501 SNIP1 79753 HP:0011304 Broad thumb OMIM:614501 SNIP1 79753 HP:0001263 Global developmental delay OMIM:614501 SNIP1 79753 HP:0001607 Subglottic stenosis OMIM:613686 HES7 84667 HP:0003310 Abnormality of the odontoid process OMIM:613686 HES7 84667 HP:0000921 Missing ribs OMIM:613686 HES7 84667 HP:0002937 Hemivertebrae OMIM:613686 HES7 84667 HP:0002111 Restrictive respiratory insufficiency OMIM:613686 HES7 84667 HP:0004322 Short stature OMIM:613686 HES7 84667 HP:0002475 Myelomeningocele OMIM:613686 HES7 84667 HP:0000007 Autosomal recessive inheritance OMIM:613686 HES7 84667 HP:0010306 Short thorax OMIM:613686 HES7 84667 HP:0003305 Block vertebrae OMIM:613686 HES7 84667 HP:0030323 Unilateral vertebral artery hypoplasia OMIM:613686 HES7 84667 HP:0001696 Situs inversus totalis OMIM:613686 HES7 84667 HP:0003298 Spina bifida occulta OMIM:613686 HES7 84667 HP:0000902 Rib fusion OMIM:184900 FBN1 2200 HP:0004322 Short stature OMIM:184900 FBN1 2200 HP:0000006 Autosomal dominant inheritance OMIM:184900 FBN1 2200 HP:0001376 Limitation of joint mobility OMIM:184900 FBN1 2200 HP:0030053 Stiff skin OMIM:184900 FBN1 2200 HP:0009830 Peripheral neuropathy OMIM:184900 FBN1 2200 HP:0001324 Muscle weakness OMIM:184900 FBN1 2200 HP:0009125 Lipodystrophy OMIM:184900 FBN1 2200 HP:0001371 Flexion contracture OMIM:610374 ABCC8 6833 HP:0005978 Type II diabetes mellitus OMIM:610374 ABCC8 6833 HP:0000006 Autosomal dominant inheritance OMIM:610374 ABCC8 6833 HP:0008255 Transient neonatal diabetes mellitus OMIM:230500 GLB1 2720 HP:0002007 Frontal bossing OMIM:230500 GLB1 2720 HP:0001744 Splenomegaly OMIM:230500 GLB1 2720 HP:0004568 Beaking of vertebral bodies OMIM:230500 GLB1 2720 HP:0000212 Gingival overgrowth OMIM:230500 GLB1 2720 HP:0000079 Abnormality of the urinary system OMIM:230500 GLB1 2720 HP:0000900 Thickened ribs OMIM:230500 GLB1 2720 HP:0001249 Intellectual disability OMIM:230500 GLB1 2720 HP:0010729 Cherry red spot of the macula OMIM:230500 GLB1 2720 HP:0000007 Autosomal recessive inheritance OMIM:230500 GLB1 2720 HP:0000470 Short neck OMIM:230500 GLB1 2720 HP:0001644 Dilated cardiomyopathy OMIM:230500 GLB1 2720 HP:0000457 Depressed nasal ridge OMIM:230500 GLB1 2720 HP:0000023 Inguinal hernia OMIM:230500 GLB1 2720 HP:0001522 Death in infancy OMIM:230500 GLB1 2720 HP:0001635 Congestive heart failure OMIM:230500 GLB1 2720 HP:0001071 Angiokeratoma corporis diffusum OMIM:230500 GLB1 2720 HP:0002650 Scoliosis OMIM:230500 GLB1 2720 HP:0002808 Kyphosis OMIM:230500 GLB1 2720 HP:0001387 Joint stiffness OMIM:230500 GLB1 2720 HP:0008166 Decreased beta-galactosidase activity OMIM:230500 GLB1 2720 HP:0003510 Severe short stature OMIM:230500 GLB1 2720 HP:0001922 Vacuolated lymphocytes OMIM:230500 GLB1 2720 HP:0000316 Hypertelorism OMIM:230500 GLB1 2720 HP:0001639 Hypertrophic cardiomyopathy OMIM:230500 GLB1 2720 HP:0007313 Cerebral degeneration OMIM:230500 GLB1 2720 HP:0001654 Abnormality of the heart valves OMIM:230500 GLB1 2720 HP:0000998 Hypertrichosis OMIM:230500 GLB1 2720 HP:0000280 Coarse facial features OMIM:230500 GLB1 2720 HP:0002240 Hepatomegaly OMIM:230500 GLB1 2720 HP:0008479 Hypoplastic vertebral bodies OMIM:606445 CARD11 84433 HP:0002850 IgM deficiency OMIM:606445 CARD11 84433 HP:0001744 Splenomegaly OMIM:606445 CARD11 84433 HP:0002719 Recurrent infections OMIM:606445 CARD11 84433 HP:0000006 Autosomal dominant inheritance OMIM:606445 CARD11 84433 HP:0002240 Hepatomegaly OMIM:607084 DFNB31 25861 HP:0000007 Autosomal recessive inheritance OMIM:607084 DFNB31 25861 HP:0000407 Sensorineural hearing impairment OMIM:236270 MTRR 4552 HP:0003658 Hypomethioninemia OMIM:236270 MTRR 4552 HP:0003223 Decreased methylcobalamin OMIM:236270 MTRR 4552 HP:0002156 Homocystinuria OMIM:236270 MTRR 4552 HP:0001254 Lethargy OMIM:236270 MTRR 4552 HP:0001903 Anemia OMIM:236270 MTRR 4552 HP:0003524 Decreased methionine synthase activity OMIM:236270 MTRR 4552 HP:0000639 Nystagmus OMIM:236270 MTRR 4552 HP:0001508 Failure to thrive OMIM:236270 MTRR 4552 HP:0001252 Muscular hypotonia OMIM:236270 MTRR 4552 HP:0002059 Cerebral atrophy OMIM:236270 MTRR 4552 HP:0001889 Megaloblastic anemia OMIM:236270 MTRR 4552 HP:0000618 Blindness OMIM:236270 MTRR 4552 HP:0000762 Decreased nerve conduction velocity OMIM:236270 MTRR 4552 HP:0002120 Cerebral cortical atrophy OMIM:236270 MTRR 4552 HP:0001263 Global developmental delay OMIM:236270 MTRR 4552 HP:0001250 Seizures OMIM:236270 MTRR 4552 HP:0003593 Infantile onset OMIM:236270 MTRR 4552 HP:0003355 Aminoaciduria OMIM:236270 MTRR 4552 HP:0000007 Autosomal recessive inheritance OMIM:236270 MTRR 4552 HP:0002160 Hyperhomocystinemia OMIM:236270 MTRR 4552 HP:0100543 Cognitive impairment OMIM:236270 MTRR 4552 HP:0002093 Respiratory insufficiency OMIM:236270 MTRR 4552 HP:0001288 Gait disturbance OMIM:236270 MTRR 4552 HP:0006887 Intellectual disability, progressive OMIM:613856 GNAT2 2780 HP:0000613 Photophobia OMIM:613856 GNAT2 2780 HP:0000505 Visual impairment OMIM:613856 GNAT2 2780 HP:0011516 Rod monochromacy OMIM:613856 GNAT2 2780 HP:0000007 Autosomal recessive inheritance OMIM:613856 GNAT2 2780 HP:0000639 Nystagmus OMIM:309520 MED12 9968 HP:0000194 Open mouth OMIM:309520 MED12 9968 HP:0011304 Broad thumb OMIM:309520 MED12 9968 HP:0000322 Short philtrum OMIM:309520 MED12 9968 HP:0002002 Deep philtrum OMIM:309520 MED12 9968 HP:0001611 Nasal speech OMIM:309520 MED12 9968 HP:0001290 Generalized hypotonia OMIM:309520 MED12 9968 HP:0000218 High palate OMIM:309520 MED12 9968 HP:0000722 Obsessive-compulsive behavior OMIM:309520 MED12 9968 HP:0000426 Prominent nasal bridge OMIM:309520 MED12 9968 HP:0000446 Narrow nasal bridge OMIM:309520 MED12 9968 HP:0001629 Ventricular septal defect OMIM:309520 MED12 9968 HP:0000327 Hypoplasia of the maxilla OMIM:309520 MED12 9968 HP:0000678 Dental crowding OMIM:309520 MED12 9968 HP:0008544 Abnormally folded helix OMIM:309520 MED12 9968 HP:0001519 Disproportionate tall stature OMIM:309520 MED12 9968 HP:0001166 Arachnodactyly OMIM:309520 MED12 9968 HP:0000735 Impaired social interactions OMIM:309520 MED12 9968 HP:0000275 Narrow face OMIM:309520 MED12 9968 HP:0001371 Flexion contracture OMIM:309520 MED12 9968 HP:0000119 Abnormality of the genitourinary system OMIM:309520 MED12 9968 HP:0000709 Psychosis OMIM:309520 MED12 9968 HP:0001274 Agenesis of corpus callosum OMIM:309520 MED12 9968 HP:0001250 Seizures OMIM:309520 MED12 9968 HP:0011220 Prominent forehead OMIM:309520 MED12 9968 HP:0002007 Frontal bossing OMIM:309520 MED12 9968 HP:0001388 Joint laxity OMIM:309520 MED12 9968 HP:0000347 Micrognathia OMIM:309520 MED12 9968 HP:0000767 Pectus excavatum OMIM:309520 MED12 9968 HP:0000712 Emotional lability OMIM:309520 MED12 9968 HP:0001547 Abnormality of the rib cage OMIM:309520 MED12 9968 HP:0002631 Ascending aortic aneurysm OMIM:309520 MED12 9968 HP:0001631 Defect in the atrial septum OMIM:309520 MED12 9968 HP:0000256 Macrocephaly OMIM:309520 MED12 9968 HP:0000369 Low-set ears OMIM:309520 MED12 9968 HP:0000752 Hyperactivity OMIM:309520 MED12 9968 HP:0000717 Autism OMIM:309520 MED12 9968 HP:0003189 Long nose OMIM:309520 MED12 9968 HP:0000219 Thin upper lip vermilion OMIM:309520 MED12 9968 HP:0001249 Intellectual disability OMIM:309520 MED12 9968 HP:0000718 Aggressive behavior OMIM:309520 MED12 9968 HP:0001419 X-linked recessive inheritance OMIM:309520 MED12 9968 HP:0000744 Low frustration tolerance OMIM:309520 MED12 9968 HP:0000276 Long face OMIM:233420 DHH 50846 HP:0000013 Hypoplasia of the uterus OMIM:233420 DHH 50846 HP:0001425 Heterogeneous OMIM:233420 DHH 50846 HP:0010464 Streak ovary OMIM:233420 DHH 50846 HP:0008697 Hypoplasia of the fallopian tube OMIM:233420 DHH 50846 HP:0008668 Gonadal dysgenesis, male OMIM:233420 DHH 50846 HP:0000786 Primary amenorrhea OMIM:233420 DHH 50846 HP:0000150 Gonadoblastoma OMIM:233420 DHH 50846 HP:0000007 Autosomal recessive inheritance OMIM:233420 DHH 50846 HP:0009714 Abnormality of the epididymis OMIM:233420 DHH 50846 HP:0012245 Sex reversal ORPHANET:3463 WFS1 7466 HP:0000488 Retinopathy ORPHANET:3463 WFS1 7466 HP:0001943 Hypoglycemia ORPHANET:3463 WFS1 7466 HP:0000010 Recurrent urinary tract infections ORPHANET:3463 WFS1 7466 HP:0002239 Gastrointestinal hemorrhage ORPHANET:3463 WFS1 7466 HP:0000365 Hearing impairment ORPHANET:3463 WFS1 7466 HP:0002120 Cerebral cortical atrophy ORPHANET:3463 WFS1 7466 HP:0000518 Cataract ORPHANET:3463 WFS1 7466 HP:0000873 Diabetes insipidus ORPHANET:3463 WFS1 7466 HP:0002360 Sleep disturbance ORPHANET:3463 WFS1 7466 HP:0000083 Renal insufficiency ORPHANET:3463 WFS1 7466 HP:0001376 Limitation of joint mobility ORPHANET:3463 WFS1 7466 HP:0009830 Peripheral neuropathy ORPHANET:3463 WFS1 7466 HP:0002270 Abnormality of the autonomic nervous system ORPHANET:3463 WFS1 7466 HP:0002205 Recurrent respiratory infections ORPHANET:3463 WFS1 7466 HP:0000821 Hypothyroidism ORPHANET:3463 WFS1 7466 HP:0004372 Reduced consciousness/confusion ORPHANET:3463 WFS1 7466 HP:0000648 Optic atrophy ORPHANET:3463 WFS1 7466 HP:0001250 Seizures ORPHANET:3463 WFS1 7466 HP:0002311 Incoordination ORPHANET:3463 WFS1 7466 HP:0004295 Abnormality of the gastric mucosa ORPHANET:3463 WFS1 7466 HP:0000819 Diabetes mellitus ORPHANET:3463 WFS1 7466 HP:0100543 Cognitive impairment ORPHANET:3463 WFS1 7466 HP:0000505 Visual impairment ORPHANET:3463 WFS1 7466 HP:0002104 Apnea ORPHANET:3463 WFS1 7466 HP:0002376 Developmental regression ORPHANET:3463 WFS1 7466 HP:0002024 Malabsorption ORPHANET:3463 WFS1 7466 HP:0000078 Abnormality of the genital system ORPHANET:3463 WFS1 7466 HP:0000639 Nystagmus ORPHANET:3463 WFS1 7466 HP:0001635 Congestive heart failure ORPHANET:3463 WFS1 7466 HP:0000501 Glaucoma ORPHANET:3463 WFS1 7466 HP:0002167 Neurological speech impairment ORPHANET:3463 WFS1 7466 HP:0000112 Nephropathy ORPHANET:3463 WFS1 7466 HP:0008872 Feeding difficulties in infancy ORPHANET:3463 WFS1 7466 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:3463 WFS1 7466 HP:0003198 Myopathy ORPHANET:3463 WFS1 7466 HP:0002093 Respiratory insufficiency ORPHANET:3463 WFS1 7466 HP:0000738 Hallucinations ORPHANET:3463 WFS1 7466 HP:0001903 Anemia ORPHANET:3463 WFS1 7466 HP:0002019 Constipation ORPHANET:3463 WFS1 7466 HP:0000597 Ophthalmoparesis ORPHANET:3463 CISD2 493856 HP:0000488 Retinopathy ORPHANET:3463 CISD2 493856 HP:0001943 Hypoglycemia ORPHANET:3463 CISD2 493856 HP:0000010 Recurrent urinary tract infections ORPHANET:3463 CISD2 493856 HP:0002239 Gastrointestinal hemorrhage ORPHANET:3463 CISD2 493856 HP:0000365 Hearing impairment ORPHANET:3463 CISD2 493856 HP:0002120 Cerebral cortical atrophy ORPHANET:3463 CISD2 493856 HP:0000518 Cataract ORPHANET:3463 CISD2 493856 HP:0000873 Diabetes insipidus ORPHANET:3463 CISD2 493856 HP:0002360 Sleep disturbance ORPHANET:3463 CISD2 493856 HP:0000083 Renal insufficiency ORPHANET:3463 CISD2 493856 HP:0001376 Limitation of joint mobility ORPHANET:3463 CISD2 493856 HP:0009830 Peripheral neuropathy ORPHANET:3463 CISD2 493856 HP:0002270 Abnormality of the autonomic nervous system ORPHANET:3463 CISD2 493856 HP:0002205 Recurrent respiratory infections ORPHANET:3463 CISD2 493856 HP:0000821 Hypothyroidism ORPHANET:3463 CISD2 493856 HP:0004372 Reduced consciousness/confusion ORPHANET:3463 CISD2 493856 HP:0000648 Optic atrophy ORPHANET:3463 CISD2 493856 HP:0001250 Seizures ORPHANET:3463 CISD2 493856 HP:0002311 Incoordination ORPHANET:3463 CISD2 493856 HP:0004295 Abnormality of the gastric mucosa ORPHANET:3463 CISD2 493856 HP:0000819 Diabetes mellitus ORPHANET:3463 CISD2 493856 HP:0100543 Cognitive impairment ORPHANET:3463 CISD2 493856 HP:0000505 Visual impairment ORPHANET:3463 CISD2 493856 HP:0002104 Apnea ORPHANET:3463 CISD2 493856 HP:0002376 Developmental regression ORPHANET:3463 CISD2 493856 HP:0002024 Malabsorption ORPHANET:3463 CISD2 493856 HP:0000078 Abnormality of the genital system ORPHANET:3463 CISD2 493856 HP:0000639 Nystagmus ORPHANET:3463 CISD2 493856 HP:0001635 Congestive heart failure ORPHANET:3463 CISD2 493856 HP:0000501 Glaucoma ORPHANET:3463 CISD2 493856 HP:0002167 Neurological speech impairment ORPHANET:3463 CISD2 493856 HP:0000112 Nephropathy ORPHANET:3463 CISD2 493856 HP:0008872 Feeding difficulties in infancy ORPHANET:3463 CISD2 493856 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:3463 CISD2 493856 HP:0003198 Myopathy ORPHANET:3463 CISD2 493856 HP:0002093 Respiratory insufficiency ORPHANET:3463 CISD2 493856 HP:0000738 Hallucinations ORPHANET:3463 CISD2 493856 HP:0001903 Anemia ORPHANET:3463 CISD2 493856 HP:0002019 Constipation ORPHANET:3463 CISD2 493856 HP:0000597 Ophthalmoparesis OMIM:614164 GPX1 2876 HP:0000007 Autosomal recessive inheritance OMIM:614164 GPX1 2876 HP:0003265 Neonatal hyperbilirubinemia OMIM:614164 GPX1 2876 HP:0004863 Compensated hemolytic anemia ORPHANET:2189 KIF7 374654 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:2189 KIF7 374654 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:2189 KIF7 374654 HP:0000175 Cleft palate ORPHANET:2189 KIF7 374654 HP:0000490 Deeply set eye ORPHANET:2189 KIF7 374654 HP:0001162 Postaxial hand polydactyly ORPHANET:2189 KIF7 374654 HP:0001561 Polyhydramnios ORPHANET:2189 KIF7 374654 HP:0000008 Abnormality of female internal genitalia ORPHANET:2189 KIF7 374654 HP:0002564 Malformation of the heart and great vessels ORPHANET:2189 KIF7 374654 HP:0000366 Abnormality of the nose ORPHANET:2189 KIF7 374654 HP:0002323 Anencephaly ORPHANET:2189 KIF7 374654 HP:0001601 Laryngomalacia ORPHANET:2189 KIF7 374654 HP:0100335 Non-midline cleft lip ORPHANET:2189 KIF7 374654 HP:0002777 Tracheal stenosis ORPHANET:2189 KIF7 374654 HP:0000347 Micrognathia ORPHANET:2189 KIF7 374654 HP:0001622 Premature birth ORPHANET:2189 KIF7 374654 HP:0002983 Micromelia ORPHANET:2189 KIF7 374654 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2189 KIF7 374654 HP:0000238 Hydrocephalus ORPHANET:2189 KIF7 374654 HP:0001360 Holoprosencephaly ORPHANET:2189 KIF7 374654 HP:0000028 Cryptorchidism ORPHANET:2189 HYLS1 219844 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:2189 HYLS1 219844 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:2189 HYLS1 219844 HP:0000175 Cleft palate ORPHANET:2189 HYLS1 219844 HP:0000490 Deeply set eye ORPHANET:2189 HYLS1 219844 HP:0001162 Postaxial hand polydactyly ORPHANET:2189 HYLS1 219844 HP:0001561 Polyhydramnios ORPHANET:2189 HYLS1 219844 HP:0000008 Abnormality of female internal genitalia ORPHANET:2189 HYLS1 219844 HP:0002564 Malformation of the heart and great vessels ORPHANET:2189 HYLS1 219844 HP:0000366 Abnormality of the nose ORPHANET:2189 HYLS1 219844 HP:0002323 Anencephaly ORPHANET:2189 HYLS1 219844 HP:0001601 Laryngomalacia ORPHANET:2189 HYLS1 219844 HP:0100335 Non-midline cleft lip ORPHANET:2189 HYLS1 219844 HP:0002777 Tracheal stenosis ORPHANET:2189 HYLS1 219844 HP:0000347 Micrognathia ORPHANET:2189 HYLS1 219844 HP:0001622 Premature birth ORPHANET:2189 HYLS1 219844 HP:0002983 Micromelia ORPHANET:2189 HYLS1 219844 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2189 HYLS1 219844 HP:0000238 Hydrocephalus ORPHANET:2189 HYLS1 219844 HP:0001360 Holoprosencephaly ORPHANET:2189 HYLS1 219844 HP:0000028 Cryptorchidism OMIM:307800 PHEX 5251 HP:0100686 Enthesitis OMIM:307800 PHEX 5251 HP:0006432 Trapezoidal distal femoral condyles OMIM:307800 PHEX 5251 HP:0000944 Abnormality of the metaphyses OMIM:307800 PHEX 5251 HP:0002176 Spinal cord compression OMIM:307800 PHEX 5251 HP:0003165 Elevated circulating parathyroid hormone (PTH) level OMIM:307800 PHEX 5251 HP:0000124 Renal tubular dysfunction OMIM:307800 PHEX 5251 HP:0003416 Spinal canal stenosis OMIM:307800 PHEX 5251 HP:0002758 Osteoarthritis OMIM:307800 PHEX 5251 HP:0001423 X-linked dominant inheritance OMIM:307800 PHEX 5251 HP:0000682 Abnormality of dental enamel OMIM:307800 PHEX 5251 HP:0002007 Frontal bossing OMIM:307800 PHEX 5251 HP:0004322 Short stature OMIM:307800 PHEX 5251 HP:0004912 Hypophosphatemic rickets OMIM:307800 PHEX 5251 HP:0002980 Femoral bowing OMIM:307800 PHEX 5251 HP:0008144 Flattening of the talar dome OMIM:307800 PHEX 5251 HP:0002653 Bone pain OMIM:307800 PHEX 5251 HP:0006480 Premature loss of teeth OMIM:307800 PHEX 5251 HP:0002749 Osteomalacia OMIM:307800 PHEX 5251 HP:0000117 Renal phosphate wasting OMIM:307800 PHEX 5251 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:307800 PHEX 5251 HP:0002757 Recurrent fractures OMIM:307800 PHEX 5251 HP:0003155 Elevated alkaline phosphatase OMIM:307800 PHEX 5251 HP:0008117 Shortening of the talar neck OMIM:307800 PHEX 5251 HP:0003812 Phenotypic variability OMIM:307800 PHEX 5251 HP:0010502 Fibular bowing OMIM:307800 PHEX 5251 HP:0004493 Craniofacial hyperostosis OMIM:307800 PHEX 5251 HP:0002829 Arthralgia OMIM:307800 PHEX 5251 HP:0006285 Hypomineralization of enamel OMIM:307800 PHEX 5251 HP:0002970 Genu varum OMIM:307800 PHEX 5251 HP:0002982 Tibial bowing OMIM:307800 PHEX 5251 HP:0000365 Hearing impairment OMIM:307800 PHEX 5251 HP:0003025 Metaphyseal irregularity OMIM:307800 PHEX 5251 HP:0002148 Hypophosphatemia OMIM:307800 PHEX 5251 HP:0002979 Bowing of the legs OMIM:615723 STAG3 10734 HP:0008209 Premature ovarian failure OMIM:615723 STAG3 10734 HP:0000786 Primary amenorrhea OMIM:615723 STAG3 10734 HP:0000007 Autosomal recessive inheritance OMIM:615723 STAG3 10734 HP:0000837 Increased circulating gonadotropin level OMIM:614877 PEX16 9409 HP:0000505 Visual impairment OMIM:614877 PEX16 9409 HP:0000518 Cataract OMIM:614877 PEX16 9409 HP:0000407 Sensorineural hearing impairment OMIM:614877 PEX16 9409 HP:0001251 Ataxia OMIM:614877 PEX16 9409 HP:0000648 Optic atrophy OMIM:614877 PEX16 9409 HP:0001410 Decreased liver function OMIM:614877 PEX16 9409 HP:0000556 Retinal dystrophy OMIM:614877 PEX16 9409 HP:0000007 Autosomal recessive inheritance OMIM:614877 PEX16 9409 HP:0001263 Global developmental delay OMIM:614877 PEX16 9409 HP:0008167 Very long chain fatty acid accumulation OMIM:614877 PEX16 9409 HP:0001319 Neonatal hypotonia OMIM:235510 CCBE1 147372 HP:0012368 Flat face OMIM:235510 CCBE1 147372 HP:0000319 Smooth philtrum OMIM:235510 CCBE1 147372 HP:0000501 Glaucoma OMIM:235510 CCBE1 147372 HP:0000286 Epicanthus OMIM:235510 CCBE1 147372 HP:0004279 Short palm OMIM:235510 CCBE1 147372 HP:0005183 Pericardial lymphangiectasia OMIM:235510 CCBE1 147372 HP:0000369 Low-set ears OMIM:235510 CCBE1 147372 HP:0002202 Pleural effusion OMIM:235510 CCBE1 147372 HP:0000677 Oligodontia OMIM:235510 CCBE1 147372 HP:0008229 Thyroid lymphangiectasia OMIM:235510 CCBE1 147372 HP:0002650 Scoliosis OMIM:235510 CCBE1 147372 HP:0000212 Gingival overgrowth OMIM:235510 CCBE1 147372 HP:0000431 Wide nasal bridge OMIM:235510 CCBE1 147372 HP:0000405 Conductive hearing impairment OMIM:235510 CCBE1 147372 HP:0002035 Rectal prolapse OMIM:235510 CCBE1 147372 HP:0003298 Spina bifida occulta OMIM:235510 CCBE1 147372 HP:0004440 Coronal craniosynostosis OMIM:235510 CCBE1 147372 HP:0000767 Pectus excavatum OMIM:235510 CCBE1 147372 HP:0001537 Umbilical hernia OMIM:235510 CCBE1 147372 HP:0000126 Hydronephrosis OMIM:235510 CCBE1 147372 HP:0000278 Retrognathia OMIM:235510 CCBE1 147372 HP:0002593 Intestinal lymphangiectasia OMIM:235510 CCBE1 147372 HP:0012385 Camptodactyly OMIM:235510 CCBE1 147372 HP:0001007 Hirsutism OMIM:235510 CCBE1 147372 HP:0002750 Delayed skeletal maturation OMIM:235510 CCBE1 147372 HP:0007598 Bilateral single transverse palmar creases OMIM:235510 CCBE1 147372 HP:0000028 Cryptorchidism OMIM:235510 CCBE1 147372 HP:0000085 Horseshoe kidney OMIM:235510 CCBE1 147372 HP:0001629 Ventricular septal defect OMIM:235510 CCBE1 147372 HP:0000684 Delayed eruption of teeth OMIM:235510 CCBE1 147372 HP:0002866 Hypoplastic iliac wing OMIM:235510 CCBE1 147372 HP:0001249 Intellectual disability OMIM:235510 CCBE1 147372 HP:0000407 Sensorineural hearing impairment OMIM:235510 CCBE1 147372 HP:0001302 Pachygyria OMIM:235510 CCBE1 147372 HP:0100539 Periorbital edema OMIM:235510 CCBE1 147372 HP:0001250 Seizures OMIM:235510 CCBE1 147372 HP:0011065 Conical incisor OMIM:235510 CCBE1 147372 HP:0001698 Pericardial effusion OMIM:235510 CCBE1 147372 HP:0000160 Narrow mouth OMIM:235510 CCBE1 147372 HP:0001055 Erysipelas OMIM:235510 CCBE1 147372 HP:0002243 Protein-losing enteropathy OMIM:235510 CCBE1 147372 HP:0000337 Broad forehead OMIM:235510 CCBE1 147372 HP:0001631 Defect in the atrial septum OMIM:235510 CCBE1 147372 HP:0001762 Talipes equinovarus OMIM:235510 CCBE1 147372 HP:0005280 Depressed nasal bridge OMIM:235510 CCBE1 147372 HP:0000007 Autosomal recessive inheritance OMIM:235510 CCBE1 147372 HP:0001773 Short foot OMIM:235510 CCBE1 147372 HP:0000752 Hyperactivity OMIM:235510 CCBE1 147372 HP:0000316 Hypertelorism OMIM:235510 CCBE1 147372 HP:0001530 Mild postnatal growth retardation OMIM:235510 CCBE1 147372 HP:0000272 Malar flattening OMIM:235510 CCBE1 147372 HP:0200055 Small hand OMIM:235510 CCBE1 147372 HP:0009473 Joint contracture of the hand OMIM:235510 CCBE1 147372 HP:0001004 Lymphedema OMIM:235510 CCBE1 147372 HP:0000086 Ectopic kidney OMIM:235510 CCBE1 147372 HP:0006531 Pleural lymphangiectasia OMIM:235510 CCBE1 147372 HP:0000076 Vesicoureteral reflux OMIM:235510 CCBE1 147372 HP:0010554 Cutaneous finger syndactyly OMIM:235510 CCBE1 147372 HP:0003073 Hypoalbuminemia OMIM:235510 CCBE1 147372 HP:0000189 Narrow palate OMIM:605711 NFU1 27247 HP:0002878 Respiratory failure OMIM:605711 NFU1 27247 HP:0001263 Global developmental delay OMIM:605711 NFU1 27247 HP:0001508 Failure to thrive OMIM:605711 NFU1 27247 HP:0008972 Decreased activity of mitochondrial respiratory chain OMIM:605711 NFU1 27247 HP:0003128 Lactic acidosis OMIM:605711 NFU1 27247 HP:0002092 Pulmonary hypertension OMIM:605711 NFU1 27247 HP:0011968 Feeding difficulties OMIM:605711 NFU1 27247 HP:0001254 Lethargy OMIM:605711 NFU1 27247 HP:0001324 Muscle weakness OMIM:605711 NFU1 27247 HP:0000007 Autosomal recessive inheritance OMIM:160800 CLCN1 1180 HP:0010548 Percussion myotonia OMIM:160800 CLCN1 1180 HP:0003730 EMG: myotonic runs OMIM:160800 CLCN1 1180 HP:0003712 Skeletal muscle hypertrophy OMIM:160800 CLCN1 1180 HP:0000006 Autosomal dominant inheritance OMIM:160800 CLCN1 1180 HP:0003326 Myalgia OMIM:160800 CLCN1 1180 HP:0003552 Muscle stiffness OMIM:160800 CLCN1 1180 HP:0003740 Myotonia with warm-up phenomenon OMIM:160800 CLCN1 1180 HP:0012899 Handgrip myotonia OMIM:160800 CLCN1 1180 HP:0003812 Phenotypic variability OMIM:615984 BBS7 55212 HP:0010442 Polydactyly OMIM:615984 BBS7 55212 HP:0001249 Intellectual disability OMIM:615984 BBS7 55212 HP:0003241 External genital hypoplasia OMIM:615984 BBS7 55212 HP:0001513 Obesity OMIM:615984 BBS7 55212 HP:0000510 Retinitis pigmentosa OMIM:608323 YARS 8565 HP:0002936 Distal sensory impairment OMIM:608323 YARS 8565 HP:0000006 Autosomal dominant inheritance OMIM:608323 YARS 8565 HP:0003484 Upper limb muscle weakness OMIM:608323 YARS 8565 HP:0003450 Axonal regeneration OMIM:608323 YARS 8565 HP:0002460 Distal muscle weakness OMIM:608323 YARS 8565 HP:0001760 Abnormality of the foot OMIM:608323 YARS 8565 HP:0003693 Distal amyotrophy OMIM:516006 ND6 4541 HP:0001085 Papilledema OMIM:516006 ND6 4541 HP:0007146 Bilateral basal ganglia lesions OMIM:516006 ND6 4541 HP:0001427 Mitochondrial inheritance OMIM:516006 ND6 4541 HP:0001332 Dystonia OMIM:516006 ND6 4541 HP:0001112 Leber optic atrophy OMIM:516006 ND6 4541 HP:0001129 Large central visual field defect OMIM:516006 ND6 4541 HP:0003674 Onset OMIM:516006 ND6 4541 HP:0001939 Abnormality of metabolism/homeostasis OMIM:516006 ND6 4541 HP:0001117 Sudden central visual loss OMIM:516006 ND6 4541 HP:0002315 Headache OMIM:516006 ND6 4541 HP:0000543 Optic disc pallor OMIM:245050 OXCT1 5019 HP:0000007 Autosomal recessive inheritance OMIM:245050 OXCT1 5019 HP:0002789 Tachypnea OMIM:245050 OXCT1 5019 HP:0002013 Vomiting OMIM:245050 OXCT1 5019 HP:0005974 Episodic ketoacidosis OMIM:245050 OXCT1 5019 HP:0002919 Ketonuria OMIM:609560 TK2 7084 HP:0003458 EMG: myopathic abnormalities OMIM:609560 TK2 7084 HP:0002134 Abnormality of the basal ganglia OMIM:609560 TK2 7084 HP:0001250 Seizures OMIM:609560 TK2 7084 HP:0001252 Muscular hypotonia OMIM:609560 TK2 7084 HP:0003828 Variable expressivity OMIM:609560 TK2 7084 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:609560 TK2 7084 HP:0008972 Decreased activity of mitochondrial respiratory chain OMIM:609560 TK2 7084 HP:0003593 Infantile onset OMIM:609560 TK2 7084 HP:0003391 Gowers sign OMIM:609560 TK2 7084 HP:0002059 Cerebral atrophy OMIM:609560 TK2 7084 HP:0001349 Facial diplegia OMIM:609560 TK2 7084 HP:0000365 Hearing impairment OMIM:609560 TK2 7084 HP:0003690 Limb muscle weakness OMIM:609560 TK2 7084 HP:0006887 Intellectual disability, progressive OMIM:609560 TK2 7084 HP:0003700 Generalized amyotrophy OMIM:609560 TK2 7084 HP:0003676 Progressive disorder OMIM:609560 TK2 7084 HP:0003128 Lactic acidosis OMIM:609560 TK2 7084 HP:0009141 Depletion of mitochondrial DNA in muscle tissue OMIM:609560 TK2 7084 HP:0000737 Irritability OMIM:609560 TK2 7084 HP:0003355 Aminoaciduria OMIM:609560 TK2 7084 HP:0003200 Ragged-red muscle fibers OMIM:609560 TK2 7084 HP:0002194 Delayed gross motor development OMIM:609560 TK2 7084 HP:0000007 Autosomal recessive inheritance OMIM:609560 TK2 7084 HP:0003236 Elevated serum creatine phosphokinase OMIM:609560 TK2 7084 HP:0008945 Loss of ability to walk in early childhood OMIM:613823 CEP152 22995 HP:0000426 Prominent nasal bridge OMIM:613823 CEP152 22995 HP:0000278 Retrognathia OMIM:613823 CEP152 22995 HP:0000252 Microcephaly OMIM:613823 CEP152 22995 HP:0002536 Abnormal cortical gyration OMIM:613823 CEP152 22995 HP:0003683 Large beaked nose OMIM:613823 CEP152 22995 HP:0000340 Sloping forehead OMIM:613823 CEP152 22995 HP:0000007 Autosomal recessive inheritance ORPHANET:2345 MEOX1 4222 HP:0000772 Abnormality of the ribs ORPHANET:2345 MEOX1 4222 HP:0004374 Hemiplegia/hemiparesis ORPHANET:2345 MEOX1 4222 HP:0003422 Vertebral segmentation defect ORPHANET:2345 MEOX1 4222 HP:0008678 Renal hypoplasia/aplasia ORPHANET:2345 MEOX1 4222 HP:0000470 Short neck ORPHANET:2345 MEOX1 4222 HP:0002414 Spina bifida ORPHANET:2345 MEOX1 4222 HP:0000912 Sprengel anomaly ORPHANET:2345 MEOX1 4222 HP:0001629 Ventricular septal defect ORPHANET:2345 MEOX1 4222 HP:0003043 Abnormality of the shoulder ORPHANET:2345 MEOX1 4222 HP:0004397 Ectopic anus ORPHANET:2345 MEOX1 4222 HP:0000175 Cleft palate ORPHANET:2345 MEOX1 4222 HP:0001291 Abnormality of the cranial nerves ORPHANET:2345 MEOX1 4222 HP:0002162 Low posterior hairline ORPHANET:2345 MEOX1 4222 HP:0100543 Cognitive impairment ORPHANET:2345 MEOX1 4222 HP:0005107 Abnormality of the sacrum ORPHANET:2345 MEOX1 4222 HP:0000465 Webbed neck ORPHANET:2345 MEOX1 4222 HP:0000324 Facial asymmetry ORPHANET:2345 MEOX1 4222 HP:0000365 Hearing impairment ORPHANET:2345 MEOX1 4222 HP:0002650 Scoliosis ORPHANET:2345 MEOX1 4222 HP:0005988 Congenital muscular torticollis ORPHANET:2345 MEOX1 4222 HP:0100589 Urogenital fistula ORPHANET:2345 GDF3 9573 HP:0000772 Abnormality of the ribs ORPHANET:2345 GDF3 9573 HP:0004374 Hemiplegia/hemiparesis ORPHANET:2345 GDF3 9573 HP:0003422 Vertebral segmentation defect ORPHANET:2345 GDF3 9573 HP:0008678 Renal hypoplasia/aplasia ORPHANET:2345 GDF3 9573 HP:0000470 Short neck ORPHANET:2345 GDF3 9573 HP:0002414 Spina bifida ORPHANET:2345 GDF3 9573 HP:0000912 Sprengel anomaly ORPHANET:2345 GDF3 9573 HP:0001629 Ventricular septal defect ORPHANET:2345 GDF3 9573 HP:0003043 Abnormality of the shoulder ORPHANET:2345 GDF3 9573 HP:0004397 Ectopic anus ORPHANET:2345 GDF3 9573 HP:0000175 Cleft palate ORPHANET:2345 GDF3 9573 HP:0001291 Abnormality of the cranial nerves ORPHANET:2345 GDF3 9573 HP:0002162 Low posterior hairline ORPHANET:2345 GDF3 9573 HP:0100543 Cognitive impairment ORPHANET:2345 GDF3 9573 HP:0005107 Abnormality of the sacrum ORPHANET:2345 GDF3 9573 HP:0000465 Webbed neck ORPHANET:2345 GDF3 9573 HP:0000324 Facial asymmetry ORPHANET:2345 GDF3 9573 HP:0000365 Hearing impairment ORPHANET:2345 GDF3 9573 HP:0002650 Scoliosis ORPHANET:2345 GDF3 9573 HP:0005988 Congenital muscular torticollis ORPHANET:2345 GDF3 9573 HP:0100589 Urogenital fistula ORPHANET:2345 GDF6 392255 HP:0000772 Abnormality of the ribs ORPHANET:2345 GDF6 392255 HP:0004374 Hemiplegia/hemiparesis ORPHANET:2345 GDF6 392255 HP:0003422 Vertebral segmentation defect ORPHANET:2345 GDF6 392255 HP:0008678 Renal hypoplasia/aplasia ORPHANET:2345 GDF6 392255 HP:0000470 Short neck ORPHANET:2345 GDF6 392255 HP:0002414 Spina bifida ORPHANET:2345 GDF6 392255 HP:0000912 Sprengel anomaly ORPHANET:2345 GDF6 392255 HP:0001629 Ventricular septal defect ORPHANET:2345 GDF6 392255 HP:0003043 Abnormality of the shoulder ORPHANET:2345 GDF6 392255 HP:0004397 Ectopic anus ORPHANET:2345 GDF6 392255 HP:0000175 Cleft palate ORPHANET:2345 GDF6 392255 HP:0001291 Abnormality of the cranial nerves ORPHANET:2345 GDF6 392255 HP:0002162 Low posterior hairline ORPHANET:2345 GDF6 392255 HP:0100543 Cognitive impairment ORPHANET:2345 GDF6 392255 HP:0005107 Abnormality of the sacrum ORPHANET:2345 GDF6 392255 HP:0000465 Webbed neck ORPHANET:2345 GDF6 392255 HP:0000324 Facial asymmetry ORPHANET:2345 GDF6 392255 HP:0000365 Hearing impairment ORPHANET:2345 GDF6 392255 HP:0002650 Scoliosis ORPHANET:2345 GDF6 392255 HP:0005988 Congenital muscular torticollis ORPHANET:2345 GDF6 392255 HP:0100589 Urogenital fistula OMIM:615234 STEAP3 55240 HP:0001903 Anemia OMIM:615234 STEAP3 55240 HP:0002240 Hepatomegaly OMIM:615234 STEAP3 55240 HP:0001510 Growth delay OMIM:615234 STEAP3 55240 HP:0000027 Azoospermia OMIM:615234 STEAP3 55240 HP:0000957 Cafe-au-lait spot OMIM:615234 STEAP3 55240 HP:0000135 Hypogonadism OMIM:615234 STEAP3 55240 HP:0003281 Increased serum ferritin OMIM:615234 STEAP3 55240 HP:0001744 Splenomegaly OMIM:615234 STEAP3 55240 HP:0000006 Autosomal dominant inheritance OMIM:145250 KITLG 4254 HP:0000957 Cafe-au-lait spot OMIM:145250 KITLG 4254 HP:0000006 Autosomal dominant inheritance OMIM:145250 KITLG 4254 HP:0001045 Vitiligo OMIM:145250 KITLG 4254 HP:0000962 Hyperkeratosis OMIM:145250 KITLG 4254 HP:0007505 Progressive hyperpigmentation OMIM:145250 KITLG 4254 HP:0001053 Hypopigmented skin patches OMIM:145250 KITLG 4254 HP:0001034 Hypermelanotic macule OMIM:145250 KITLG 4254 HP:0003577 Congenital onset OMIM:614204 IL36RN 26525 HP:0000221 Furrowed tongue OMIM:614204 IL36RN 26525 HP:0030151 Cholangitis OMIM:614204 IL36RN 26525 HP:0200039 Pustule OMIM:614204 IL36RN 26525 HP:0008404 Nail dystrophy OMIM:614204 IL36RN 26525 HP:0003765 Psoriasis OMIM:614204 IL36RN 26525 HP:0010783 Erythema OMIM:614204 IL36RN 26525 HP:0002164 Nail dysplasia OMIM:614204 IL36RN 26525 HP:0001945 Fever OMIM:614204 IL36RN 26525 HP:0000007 Autosomal recessive inheritance OMIM:614204 IL36RN 26525 HP:0001036 Parakeratosis OMIM:612260 MYD88 4615 HP:0004370 Abnormality of temperature regulation OMIM:612260 MYD88 4615 HP:0000246 Sinusitis OMIM:612260 MYD88 4615 HP:0200042 Skin ulcer OMIM:612260 MYD88 4615 HP:0010978 Abnormality of immune system physiology OMIM:611726 KCTD7 154881 HP:0002078 Truncal ataxia OMIM:611726 KCTD7 154881 HP:0002123 Generalized myoclonic seizures OMIM:611726 KCTD7 154881 HP:0002079 Hypoplasia of the corpus callosum OMIM:611726 KCTD7 154881 HP:0001249 Intellectual disability OMIM:611726 KCTD7 154881 HP:0000252 Microcephaly OMIM:611726 KCTD7 154881 HP:0001260 Dysarthria OMIM:611726 KCTD7 154881 HP:0002059 Cerebral atrophy OMIM:611726 KCTD7 154881 HP:0001272 Cerebellar atrophy OMIM:611726 KCTD7 154881 HP:0000572 Visual loss OMIM:611726 KCTD7 154881 HP:0003676 Progressive disorder OMIM:611726 KCTD7 154881 HP:0000007 Autosomal recessive inheritance OMIM:611726 KCTD7 154881 HP:0003208 Fingerprint intracellular accumulation of autofluorescent lipopigment storage material OMIM:204000 GUCY2D 3000 HP:0000618 Blindness OMIM:204000 GUCY2D 3000 HP:0001249 Intellectual disability OMIM:204000 GUCY2D 3000 HP:0000639 Nystagmus OMIM:204000 GUCY2D 3000 HP:0003296 Hyperthreoninuria OMIM:204000 GUCY2D 3000 HP:0002240 Hepatomegaly OMIM:204000 GUCY2D 3000 HP:0000654 Decreased electroretinogram (ERG) amplitude OMIM:204000 GUCY2D 3000 HP:0000407 Sensorineural hearing impairment OMIM:204000 GUCY2D 3000 HP:0000563 Keratoconus OMIM:204000 GUCY2D 3000 HP:0000580 Pigmentary retinopathy OMIM:204000 GUCY2D 3000 HP:0000518 Cataract OMIM:204000 GUCY2D 3000 HP:0007663 Decreased central vision OMIM:204000 GUCY2D 3000 HP:0000613 Photophobia OMIM:204000 GUCY2D 3000 HP:0003354 Hyperthreoninemia OMIM:204000 GUCY2D 3000 HP:0001510 Growth delay OMIM:204000 GUCY2D 3000 HP:0001483 Eye poking OMIM:204000 GUCY2D 3000 HP:0000007 Autosomal recessive inheritance OMIM:204000 GUCY2D 3000 HP:0001099 Fundus atrophy ORPHANET:33226 MYD88 4615 HP:0002637 Cerebral ischemia ORPHANET:33226 MYD88 4615 HP:0000965 Cutis marmorata ORPHANET:33226 MYD88 4615 HP:0100539 Periorbital edema ORPHANET:33226 MYD88 4615 HP:0000225 Gingival bleeding ORPHANET:33226 MYD88 4615 HP:0001874 Abnormality of neutrophils ORPHANET:33226 MYD88 4615 HP:0006824 Cranial nerve paralysis ORPHANET:33226 MYD88 4615 HP:0000083 Renal insufficiency ORPHANET:33226 MYD88 4615 HP:0001897 Normocytic anemia ORPHANET:33226 MYD88 4615 HP:0002113 Pulmonary infiltrates ORPHANET:33226 MYD88 4615 HP:0009830 Peripheral neuropathy ORPHANET:33226 MYD88 4615 HP:0002321 Vertigo ORPHANET:33226 MYD88 4615 HP:0001933 Subcutaneous hemorrhage ORPHANET:33226 MYD88 4615 HP:0010741 Edema of the lower limbs ORPHANET:33226 MYD88 4615 HP:0010701 Abnormal immunoglobulin level ORPHANET:33226 MYD88 4615 HP:0001025 Urticaria ORPHANET:33226 MYD88 4615 HP:0002716 Lymphadenopathy ORPHANET:33226 MYD88 4615 HP:0000980 Pallor ORPHANET:33226 MYD88 4615 HP:0002024 Malabsorption ORPHANET:33226 MYD88 4615 HP:0004372 Reduced consciousness/confusion ORPHANET:33226 MYD88 4615 HP:0001635 Congestive heart failure ORPHANET:33226 MYD88 4615 HP:0008046 Abnormality of the retinal vasculature ORPHANET:33226 MYD88 4615 HP:0004370 Abnormality of temperature regulation ORPHANET:33226 MYD88 4615 HP:0002633 Vasculitis ORPHANET:33226 MYD88 4615 HP:0100778 Cryoglobulinemia ORPHANET:33226 MYD88 4615 HP:0001744 Splenomegaly ORPHANET:33226 MYD88 4615 HP:0000365 Hearing impairment ORPHANET:33226 MYD88 4615 HP:0000520 Proptosis ORPHANET:33226 MYD88 4615 HP:0002103 Abnormality of the pleura ORPHANET:33226 MYD88 4615 HP:0002239 Gastrointestinal hemorrhage ORPHANET:33226 MYD88 4615 HP:0001909 Leukemia ORPHANET:33226 MYD88 4615 HP:0000421 Epistaxis ORPHANET:33226 MYD88 4615 HP:0002311 Incoordination ORPHANET:33226 MYD88 4615 HP:0002354 Memory impairment ORPHANET:33226 MYD88 4615 HP:0002076 Migraine ORPHANET:33226 MYD88 4615 HP:0100724 Hypercoagulability ORPHANET:33226 MYD88 4615 HP:0002039 Anorexia ORPHANET:33226 MYD88 4615 HP:0002240 Hepatomegaly ORPHANET:33226 MYD88 4615 HP:0002093 Respiratory insufficiency OMIM:614576 COG6 57511 HP:0001403 Macrovesicular hepatic steatosis OMIM:614576 COG6 57511 HP:0002240 Hepatomegaly OMIM:614576 COG6 57511 HP:0000278 Retrognathia OMIM:614576 COG6 57511 HP:0012301 Type II transferrin isoform profile OMIM:614576 COG6 57511 HP:0001263 Global developmental delay OMIM:614576 COG6 57511 HP:0003577 Congenital onset OMIM:614576 COG6 57511 HP:0000114 Proximal tubulopathy OMIM:614576 COG6 57511 HP:0001508 Failure to thrive OMIM:614576 COG6 57511 HP:0100259 Postaxial polydactyly OMIM:614576 COG6 57511 HP:0007185 Loss of consciousness OMIM:614576 COG6 57511 HP:0001522 Death in infancy OMIM:614576 COG6 57511 HP:0002037 Inflammation of the large intestine OMIM:614576 COG6 57511 HP:0002910 Elevated hepatic transaminases OMIM:614576 COG6 57511 HP:0000252 Microcephaly OMIM:614576 COG6 57511 HP:0001413 Micronodular cirrhosis OMIM:614576 COG6 57511 HP:0001250 Seizures OMIM:614576 COG6 57511 HP:0002028 Chronic diarrhea OMIM:614576 COG6 57511 HP:0008936 Muscular hypotonia of the trunk OMIM:614576 COG6 57511 HP:0004313 Hypogammaglobulinemia OMIM:614576 COG6 57511 HP:0000007 Autosomal recessive inheritance OMIM:614576 COG6 57511 HP:0005435 Impaired T cell function OMIM:614576 COG6 57511 HP:0002719 Recurrent infections OMIM:614293 KHDC3L 154288 HP:0000007 Autosomal recessive inheritance OMIM:615453 CYC1 1537 HP:0002910 Elevated hepatic transaminases OMIM:615453 CYC1 1537 HP:0002151 Increased serum lactate OMIM:615453 CYC1 1537 HP:0001993 Ketoacidosis OMIM:615453 CYC1 1537 HP:0003128 Lactic acidosis OMIM:615453 CYC1 1537 HP:0000007 Autosomal recessive inheritance OMIM:615453 CYC1 1537 HP:0001987 Hyperammonemia OMIM:615453 CYC1 1537 HP:0006554 Acute hepatic failure ORPHANET:3156 NPHP4 261734 HP:0000518 Cataract ORPHANET:3156 NPHP4 261734 HP:0100543 Cognitive impairment ORPHANET:3156 NPHP4 261734 HP:0007703 Abnormal retinal pigmentation ORPHANET:3156 NPHP4 261734 HP:0004322 Short stature ORPHANET:3156 NPHP4 261734 HP:0002612 Congenital hepatic fibrosis ORPHANET:3156 NPHP4 261734 HP:0002311 Incoordination ORPHANET:3156 NPHP4 261734 HP:0000505 Visual impairment ORPHANET:3156 NPHP4 261734 HP:0000091 Abnormality of the renal tubule ORPHANET:3156 NPHP4 261734 HP:0004348 Abnormality of bone mineral density ORPHANET:3156 NPHP4 261734 HP:0000003 Multicystic kidney dysplasia ORPHANET:3156 NPHP4 261734 HP:0000113 Polycystic kidney dysplasia ORPHANET:3156 NPHP4 261734 HP:0010579 Cone-shaped epiphysis ORPHANET:3156 NPHP4 261734 HP:0000822 Hypertension ORPHANET:3156 INVS 27130 HP:0000518 Cataract ORPHANET:3156 INVS 27130 HP:0100543 Cognitive impairment ORPHANET:3156 INVS 27130 HP:0007703 Abnormal retinal pigmentation ORPHANET:3156 INVS 27130 HP:0004322 Short stature ORPHANET:3156 INVS 27130 HP:0002612 Congenital hepatic fibrosis ORPHANET:3156 INVS 27130 HP:0002311 Incoordination ORPHANET:3156 INVS 27130 HP:0000505 Visual impairment ORPHANET:3156 INVS 27130 HP:0000091 Abnormality of the renal tubule ORPHANET:3156 INVS 27130 HP:0004348 Abnormality of bone mineral density ORPHANET:3156 INVS 27130 HP:0000003 Multicystic kidney dysplasia ORPHANET:3156 INVS 27130 HP:0000113 Polycystic kidney dysplasia ORPHANET:3156 INVS 27130 HP:0010579 Cone-shaped epiphysis ORPHANET:3156 INVS 27130 HP:0000822 Hypertension ORPHANET:3156 CEP164 22897 HP:0000518 Cataract ORPHANET:3156 CEP164 22897 HP:0100543 Cognitive impairment ORPHANET:3156 CEP164 22897 HP:0007703 Abnormal retinal pigmentation ORPHANET:3156 CEP164 22897 HP:0004322 Short stature ORPHANET:3156 CEP164 22897 HP:0002612 Congenital hepatic fibrosis ORPHANET:3156 CEP164 22897 HP:0002311 Incoordination ORPHANET:3156 CEP164 22897 HP:0000505 Visual impairment ORPHANET:3156 CEP164 22897 HP:0000091 Abnormality of the renal tubule ORPHANET:3156 CEP164 22897 HP:0004348 Abnormality of bone mineral density ORPHANET:3156 CEP164 22897 HP:0000003 Multicystic kidney dysplasia ORPHANET:3156 CEP164 22897 HP:0000113 Polycystic kidney dysplasia ORPHANET:3156 CEP164 22897 HP:0010579 Cone-shaped epiphysis ORPHANET:3156 CEP164 22897 HP:0000822 Hypertension ORPHANET:3156 SDCCAG8 10806 HP:0000518 Cataract ORPHANET:3156 SDCCAG8 10806 HP:0100543 Cognitive impairment ORPHANET:3156 SDCCAG8 10806 HP:0007703 Abnormal retinal pigmentation ORPHANET:3156 SDCCAG8 10806 HP:0004322 Short stature ORPHANET:3156 SDCCAG8 10806 HP:0002612 Congenital hepatic fibrosis ORPHANET:3156 SDCCAG8 10806 HP:0002311 Incoordination ORPHANET:3156 SDCCAG8 10806 HP:0000505 Visual impairment ORPHANET:3156 SDCCAG8 10806 HP:0000091 Abnormality of the renal tubule ORPHANET:3156 SDCCAG8 10806 HP:0004348 Abnormality of bone mineral density ORPHANET:3156 SDCCAG8 10806 HP:0000003 Multicystic kidney dysplasia ORPHANET:3156 SDCCAG8 10806 HP:0000113 Polycystic kidney dysplasia ORPHANET:3156 SDCCAG8 10806 HP:0010579 Cone-shaped epiphysis ORPHANET:3156 SDCCAG8 10806 HP:0000822 Hypertension ORPHANET:3156 NPHP1 4867 HP:0000518 Cataract ORPHANET:3156 NPHP1 4867 HP:0100543 Cognitive impairment ORPHANET:3156 NPHP1 4867 HP:0007703 Abnormal retinal pigmentation ORPHANET:3156 NPHP1 4867 HP:0004322 Short stature ORPHANET:3156 NPHP1 4867 HP:0002612 Congenital hepatic fibrosis ORPHANET:3156 NPHP1 4867 HP:0002311 Incoordination ORPHANET:3156 NPHP1 4867 HP:0000505 Visual impairment ORPHANET:3156 NPHP1 4867 HP:0000091 Abnormality of the renal tubule ORPHANET:3156 NPHP1 4867 HP:0004348 Abnormality of bone mineral density ORPHANET:3156 NPHP1 4867 HP:0000003 Multicystic kidney dysplasia ORPHANET:3156 NPHP1 4867 HP:0000113 Polycystic kidney dysplasia ORPHANET:3156 NPHP1 4867 HP:0010579 Cone-shaped epiphysis ORPHANET:3156 NPHP1 4867 HP:0000822 Hypertension ORPHANET:3156 WDR19 57728 HP:0000518 Cataract ORPHANET:3156 WDR19 57728 HP:0100543 Cognitive impairment ORPHANET:3156 WDR19 57728 HP:0007703 Abnormal retinal pigmentation ORPHANET:3156 WDR19 57728 HP:0004322 Short stature ORPHANET:3156 WDR19 57728 HP:0002612 Congenital hepatic fibrosis ORPHANET:3156 WDR19 57728 HP:0002311 Incoordination ORPHANET:3156 WDR19 57728 HP:0000505 Visual impairment ORPHANET:3156 WDR19 57728 HP:0000091 Abnormality of the renal tubule ORPHANET:3156 WDR19 57728 HP:0004348 Abnormality of bone mineral density ORPHANET:3156 WDR19 57728 HP:0000003 Multicystic kidney dysplasia ORPHANET:3156 WDR19 57728 HP:0000113 Polycystic kidney dysplasia ORPHANET:3156 WDR19 57728 HP:0010579 Cone-shaped epiphysis ORPHANET:3156 WDR19 57728 HP:0000822 Hypertension ORPHANET:3156 NPHP3 27031 HP:0000518 Cataract ORPHANET:3156 NPHP3 27031 HP:0100543 Cognitive impairment ORPHANET:3156 NPHP3 27031 HP:0007703 Abnormal retinal pigmentation ORPHANET:3156 NPHP3 27031 HP:0004322 Short stature ORPHANET:3156 NPHP3 27031 HP:0002612 Congenital hepatic fibrosis ORPHANET:3156 NPHP3 27031 HP:0002311 Incoordination ORPHANET:3156 NPHP3 27031 HP:0000505 Visual impairment ORPHANET:3156 NPHP3 27031 HP:0000091 Abnormality of the renal tubule ORPHANET:3156 NPHP3 27031 HP:0004348 Abnormality of bone mineral density ORPHANET:3156 NPHP3 27031 HP:0000003 Multicystic kidney dysplasia ORPHANET:3156 NPHP3 27031 HP:0000113 Polycystic kidney dysplasia ORPHANET:3156 NPHP3 27031 HP:0010579 Cone-shaped epiphysis ORPHANET:3156 NPHP3 27031 HP:0000822 Hypertension ORPHANET:3156 IQCB1 9657 HP:0000518 Cataract ORPHANET:3156 IQCB1 9657 HP:0100543 Cognitive impairment ORPHANET:3156 IQCB1 9657 HP:0007703 Abnormal retinal pigmentation ORPHANET:3156 IQCB1 9657 HP:0004322 Short stature ORPHANET:3156 IQCB1 9657 HP:0002612 Congenital hepatic fibrosis ORPHANET:3156 IQCB1 9657 HP:0002311 Incoordination ORPHANET:3156 IQCB1 9657 HP:0000505 Visual impairment ORPHANET:3156 IQCB1 9657 HP:0000091 Abnormality of the renal tubule ORPHANET:3156 IQCB1 9657 HP:0004348 Abnormality of bone mineral density ORPHANET:3156 IQCB1 9657 HP:0000003 Multicystic kidney dysplasia ORPHANET:3156 IQCB1 9657 HP:0000113 Polycystic kidney dysplasia ORPHANET:3156 IQCB1 9657 HP:0010579 Cone-shaped epiphysis ORPHANET:3156 IQCB1 9657 HP:0000822 Hypertension ORPHANET:3156 CEP290 80184 HP:0000518 Cataract ORPHANET:3156 CEP290 80184 HP:0100543 Cognitive impairment ORPHANET:3156 CEP290 80184 HP:0007703 Abnormal retinal pigmentation ORPHANET:3156 CEP290 80184 HP:0004322 Short stature ORPHANET:3156 CEP290 80184 HP:0002612 Congenital hepatic fibrosis ORPHANET:3156 CEP290 80184 HP:0002311 Incoordination ORPHANET:3156 CEP290 80184 HP:0000505 Visual impairment ORPHANET:3156 CEP290 80184 HP:0000091 Abnormality of the renal tubule ORPHANET:3156 CEP290 80184 HP:0004348 Abnormality of bone mineral density ORPHANET:3156 CEP290 80184 HP:0000003 Multicystic kidney dysplasia ORPHANET:3156 CEP290 80184 HP:0000113 Polycystic kidney dysplasia ORPHANET:3156 CEP290 80184 HP:0010579 Cone-shaped epiphysis ORPHANET:3156 CEP290 80184 HP:0000822 Hypertension OMIM:300322 HPRT1 3251 HP:0002013 Vomiting OMIM:300322 HPRT1 3251 HP:0001252 Muscular hypotonia OMIM:300322 HPRT1 3251 HP:0001347 Hyperreflexia OMIM:300322 HPRT1 3251 HP:0001889 Megaloblastic anemia OMIM:300322 HPRT1 3251 HP:0001260 Dysarthria OMIM:300322 HPRT1 3251 HP:0001249 Intellectual disability OMIM:300322 HPRT1 3251 HP:0003149 Hyperuricosuria OMIM:300322 HPRT1 3251 HP:0001266 Choreoathetosis OMIM:300322 HPRT1 3251 HP:0001419 X-linked recessive inheritance OMIM:300322 HPRT1 3251 HP:0001854 Gout (feet) OMIM:300322 HPRT1 3251 HP:0002179 Opisthotonus OMIM:300322 HPRT1 3251 HP:0002015 Dysphagia OMIM:300322 HPRT1 3251 HP:0001257 Spasticity OMIM:300322 HPRT1 3251 HP:0004322 Short stature OMIM:300322 HPRT1 3251 HP:0000787 Nephrolithiasis OMIM:300322 HPRT1 3251 HP:0001270 Motor delay OMIM:300322 HPRT1 3251 HP:0001332 Dystonia OMIM:300322 HPRT1 3251 HP:0002071 Abnormality of extrapyramidal motor function OMIM:300322 HPRT1 3251 HP:0000029 Testicular atrophy OMIM:610921 ABCA3 21 HP:0001425 Heterogeneous OMIM:610921 ABCA3 21 HP:0005942 Desquamative interstitial pneumonitis OMIM:610921 ABCA3 21 HP:0002098 Respiratory distress OMIM:610921 ABCA3 21 HP:0002789 Tachypnea OMIM:610921 ABCA3 21 HP:0000007 Autosomal recessive inheritance OMIM:610921 ABCA3 21 HP:0002878 Respiratory failure OMIM:610921 ABCA3 21 HP:0002104 Apnea OMIM:610921 ABCA3 21 HP:0001508 Failure to thrive OMIM:610921 ABCA3 21 HP:0003577 Congenital onset OMIM:610921 ABCA3 21 HP:0006517 Alveolar proteinosis OMIM:225750 TREX1 11277 HP:0002135 Basal ganglia calcification OMIM:225750 TREX1 11277 HP:0009709 Increased CSF interferon alpha OMIM:225750 TREX1 11277 HP:0008936 Muscular hypotonia of the trunk OMIM:225750 TREX1 11277 HP:0000007 Autosomal recessive inheritance OMIM:225750 TREX1 11277 HP:0001063 Acrocyanosis OMIM:225750 TREX1 11277 HP:0006579 Prolonged neonatal jaundice OMIM:225750 TREX1 11277 HP:0001945 Fever OMIM:225750 TREX1 11277 HP:0001873 Thrombocytopenia OMIM:225750 TREX1 11277 HP:0000979 Purpura OMIM:225750 TREX1 11277 HP:0002062 Morphological abnormality of the pyramidal tract OMIM:225750 TREX1 11277 HP:0000253 Progressive microcephaly OMIM:225750 TREX1 11277 HP:0000486 Strabismus OMIM:225750 TREX1 11277 HP:0002448 Progressive encephalopathy OMIM:225750 TREX1 11277 HP:0000006 Autosomal dominant inheritance OMIM:225750 TREX1 11277 HP:0008872 Feeding difficulties in infancy OMIM:225750 TREX1 11277 HP:0001433 Hepatosplenomegaly OMIM:225750 TREX1 11277 HP:0001257 Spasticity OMIM:225750 TREX1 11277 HP:0001332 Dystonia OMIM:225750 TREX1 11277 HP:0001250 Seizures OMIM:225750 TREX1 11277 HP:0002352 Leukoencephalopathy OMIM:225750 TREX1 11277 HP:0000967 Petechiae OMIM:225750 TREX1 11277 HP:0009704 Chronic CSF lymphocytosis OMIM:225750 TREX1 11277 HP:0002071 Abnormality of extrapyramidal motor function OMIM:225750 TREX1 11277 HP:0002240 Hepatomegaly OMIM:225750 TREX1 11277 HP:0004394 Multiple gastric polyps OMIM:225750 TREX1 11277 HP:0007321 Deep white matter hypodensities OMIM:225750 TREX1 11277 HP:0001263 Global developmental delay OMIM:225750 TREX1 11277 HP:0009710 Chilblain lesions OMIM:225750 TREX1 11277 HP:0002059 Cerebral atrophy OMIM:225750 TREX1 11277 HP:0000639 Nystagmus OMIM:225750 TREX1 11277 HP:0001744 Splenomegaly OMIM:225750 TREX1 11277 HP:0002187 Intellectual disability, profound OMIM:225750 TREX1 11277 HP:0002421 Poor head control OMIM:225750 TREX1 11277 HP:0002910 Elevated hepatic transaminases OMIM:613078 RAD50 10111 HP:0010997 Chromosomal breakage induced by ionizing radiation OMIM:613078 RAD50 10111 HP:0000252 Microcephaly OMIM:613078 RAD50 10111 HP:0000540 Hypermetropia OMIM:613078 RAD50 10111 HP:0001249 Intellectual disability OMIM:613078 RAD50 10111 HP:0000007 Autosomal recessive inheritance OMIM:613078 RAD50 10111 HP:0001251 Ataxia OMIM:613078 RAD50 10111 HP:0001257 Spasticity OMIM:613078 RAD50 10111 HP:0004322 Short stature OMIM:608027 PCLO 27445 HP:0012110 Hypoplasia of the pons OMIM:608027 PCLO 27445 HP:0003676 Progressive disorder OMIM:608027 PCLO 27445 HP:0000648 Optic atrophy OMIM:608027 PCLO 27445 HP:0001319 Neonatal hypotonia OMIM:608027 PCLO 27445 HP:0000400 Macrotia OMIM:608027 PCLO 27445 HP:0002365 Hypoplasia of the brainstem OMIM:608027 PCLO 27445 HP:0001263 Global developmental delay OMIM:608027 PCLO 27445 HP:0002079 Hypoplasia of the corpus callosum OMIM:608027 PCLO 27445 HP:0001272 Cerebellar atrophy OMIM:608027 PCLO 27445 HP:0000253 Progressive microcephaly OMIM:608027 PCLO 27445 HP:0000248 Brachycephaly OMIM:608027 PCLO 27445 HP:0001321 Cerebellar hypoplasia OMIM:608027 PCLO 27445 HP:0004325 Decreased body weight OMIM:608027 PCLO 27445 HP:0001250 Seizures OMIM:608027 PCLO 27445 HP:0000520 Proptosis OMIM:608027 PCLO 27445 HP:0002059 Cerebral atrophy OMIM:608027 PCLO 27445 HP:0008936 Muscular hypotonia of the trunk OMIM:608027 PCLO 27445 HP:0005280 Depressed nasal bridge OMIM:608027 PCLO 27445 HP:0000365 Hearing impairment OMIM:608027 PCLO 27445 HP:0000343 Long philtrum OMIM:608027 PCLO 27445 HP:0000218 High palate OMIM:608027 PCLO 27445 HP:0001347 Hyperreflexia OMIM:608027 PCLO 27445 HP:0000637 Long palpebral fissure OMIM:608027 PCLO 27445 HP:0002714 Downturned corners of mouth OMIM:608027 PCLO 27445 HP:0002421 Poor head control OMIM:608027 PCLO 27445 HP:0000369 Low-set ears OMIM:608027 PCLO 27445 HP:0000293 Full cheeks OMIM:608027 PCLO 27445 HP:0001257 Spasticity OMIM:608027 PCLO 27445 HP:0003577 Congenital onset OMIM:608027 PCLO 27445 HP:0004322 Short stature OMIM:608027 PCLO 27445 HP:0000007 Autosomal recessive inheritance OMIM:240300 AIRE 326 HP:0001746 Asplenia OMIM:240300 AIRE 326 HP:0002514 Cerebral calcification OMIM:240300 AIRE 326 HP:0001053 Hypopigmented skin patches OMIM:240300 AIRE 326 HP:0001231 Abnormality of the fingernails OMIM:240300 AIRE 326 HP:0000613 Photophobia OMIM:240300 AIRE 326 HP:0008207 Primary adrenal insufficiency OMIM:240300 AIRE 326 HP:0000505 Visual impairment OMIM:240300 AIRE 326 HP:0011362 Abnormal hair quantity OMIM:240300 AIRE 326 HP:0007759 Opacification of the corneal stroma OMIM:240300 AIRE 326 HP:0100651 Type I diabetes mellitus OMIM:240300 AIRE 326 HP:0000829 Hypoparathyroidism OMIM:240300 AIRE 326 HP:0001081 Cholelithiasis OMIM:240300 AIRE 326 HP:0100659 Abnormality of the cerebral vasculature OMIM:240300 AIRE 326 HP:0001096 Keratoconjunctivitis OMIM:240300 AIRE 326 HP:0000006 Autosomal dominant inheritance OMIM:240300 AIRE 326 HP:0200120 Chronic active hepatitis OMIM:240300 AIRE 326 HP:0000518 Cataract OMIM:240300 AIRE 326 HP:0003621 Juvenile onset OMIM:240300 AIRE 326 HP:0002014 Diarrhea OMIM:240300 AIRE 326 HP:0006297 Hypoplasia of dental enamel OMIM:240300 AIRE 326 HP:0000007 Autosomal recessive inheritance OMIM:240300 AIRE 326 HP:0002582 Chronic atrophic gastritis OMIM:240300 AIRE 326 HP:0002728 Chronic mucocutaneous candidiasis OMIM:240300 AIRE 326 HP:0001045 Vitiligo OMIM:240300 AIRE 326 HP:0000134 Female hypogonadism OMIM:240300 AIRE 326 HP:0002024 Malabsorption OMIM:240300 AIRE 326 HP:0001903 Anemia OMIM:240300 AIRE 326 HP:0001596 Alopecia OMIM:240300 AIRE 326 HP:0004319 Hypoaldosteronism OMIM:240300 AIRE 326 HP:0001578 Hypercortisolism OMIM:240300 AIRE 326 HP:0100530 Abnormality of calcium-phosphate metabolism OMIM:240300 AIRE 326 HP:0002960 Autoimmunity OMIM:610031 TUBB2B 347733 HP:0000006 Autosomal dominant inheritance OMIM:610031 TUBB2B 347733 HP:0006927 Unilateral polymicrogyria OMIM:610031 TUBB2B 347733 HP:0001269 Hemiparesis OMIM:610031 TUBB2B 347733 HP:0001270 Motor delay OMIM:610031 TUBB2B 347733 HP:0000007 Autosomal recessive inheritance OMIM:610031 TUBB2B 347733 HP:0002307 Drooling OMIM:610031 TUBB2B 347733 HP:0001302 Pachygyria OMIM:610031 TUBB2B 347733 HP:0002079 Hypoplasia of the corpus callosum OMIM:610031 TUBB2B 347733 HP:0001274 Agenesis of corpus callosum OMIM:610031 TUBB2B 347733 HP:0000252 Microcephaly OMIM:610031 TUBB2B 347733 HP:0001250 Seizures OMIM:610031 TUBB2B 347733 HP:0001263 Global developmental delay OMIM:610031 TUBB2B 347733 HP:0001328 Specific learning disability OMIM:610031 TUBB2B 347733 HP:0006930 Frontoparietal cortical dysplasia OMIM:610031 TUBB2B 347733 HP:0001491 Congenital fibrosis of extraocular muscles OMIM:610031 TUBB2B 347733 HP:0001249 Intellectual disability OMIM:610031 TUBB2B 347733 HP:0007941 Limited extraocular movements OMIM:610031 TUBB2B 347733 HP:0001321 Cerebellar hypoplasia OMIM:601186 STRA6 64220 HP:0009110 Diaphragmatic eventration OMIM:601186 STRA6 64220 HP:0000085 Horseshoe kidney OMIM:601186 STRA6 64220 HP:0001660 Truncus arteriosus OMIM:601186 STRA6 64220 HP:0000347 Micrognathia OMIM:601186 STRA6 64220 HP:0000013 Hypoplasia of the uterus OMIM:601186 STRA6 64220 HP:0001511 Intrauterine growth retardation OMIM:601186 STRA6 64220 HP:0001629 Ventricular septal defect OMIM:601186 STRA6 64220 HP:0004712 Renal malrotation OMIM:601186 STRA6 64220 HP:0005156 Hypoplastic left atrium OMIM:601186 STRA6 64220 HP:0007633 Bilateral microphthalmos OMIM:601186 STRA6 64220 HP:0000431 Wide nasal bridge OMIM:601186 STRA6 64220 HP:0000369 Low-set ears OMIM:601186 STRA6 64220 HP:0002093 Respiratory insufficiency OMIM:601186 STRA6 64220 HP:0004322 Short stature OMIM:601186 STRA6 64220 HP:0000007 Autosomal recessive inheritance OMIM:601186 STRA6 64220 HP:0000581 Blepharophimosis OMIM:601186 STRA6 64220 HP:0001643 Patent ductus arteriosus OMIM:601186 STRA6 64220 HP:0000023 Inguinal hernia OMIM:601186 STRA6 64220 HP:0002089 Pulmonary hypoplasia OMIM:601186 STRA6 64220 HP:0004935 Pulmonary artery atresia OMIM:601186 STRA6 64220 HP:0000028 Cryptorchidism OMIM:601186 STRA6 64220 HP:0005944 Bilateral lung agenesis OMIM:601186 STRA6 64220 HP:0001642 Pulmonic stenosis OMIM:601186 STRA6 64220 HP:0006270 Hypoplastic spleen OMIM:601186 STRA6 64220 HP:0001252 Muscular hypotonia OMIM:601186 STRA6 64220 HP:0002187 Intellectual disability, profound OMIM:601186 STRA6 64220 HP:0002627 Right aortic arch with mirror image branching OMIM:601186 STRA6 64220 HP:0000089 Renal hypoplasia OMIM:601186 STRA6 64220 HP:0001680 Coarctation of aorta OMIM:601186 STRA6 64220 HP:0000528 Anophthalmia OMIM:601186 STRA6 64220 HP:0000125 Pelvic kidney OMIM:601186 STRA6 64220 HP:0001631 Defect in the atrial septum OMIM:601186 STRA6 64220 HP:0000126 Hydronephrosis OMIM:601186 STRA6 64220 HP:0001750 Single ventricle OMIM:601186 STRA6 64220 HP:0005311 Agenesis of pulmonary vessels OMIM:601186 STRA6 64220 HP:0000776 Congenital diaphragmatic hernia OMIM:601186 STRA6 64220 HP:0000813 Bicornuate uterus OMIM:601186 STRA6 64220 HP:0001636 Tetralogy of Fallot OMIM:245660 LAMA3 3909 HP:0000007 Autosomal recessive inheritance OMIM:245660 LAMA3 3909 HP:0001612 Weak cry OMIM:245660 LAMA3 3909 HP:0001615 Hoarse cry OMIM:245660 LAMA3 3909 HP:0002093 Respiratory insufficiency OMIM:245660 LAMA3 3909 HP:0000682 Abnormality of dental enamel OMIM:245660 LAMA3 3909 HP:0002205 Recurrent respiratory infections OMIM:245660 LAMA3 3909 HP:0100669 Abnormal pigmentation of the oral mucosa OMIM:245660 LAMA3 3909 HP:0008388 Abnormality of the toenails OMIM:245660 LAMA3 3909 HP:0001798 Anonychia OMIM:245660 LAMA3 3909 HP:0007759 Opacification of the corneal stroma OMIM:245660 LAMA3 3909 HP:0008390 Recurrent loss of toenails and fingernails OMIM:245660 LAMA3 3909 HP:0000478 Abnormality of the eye OMIM:245660 LAMA3 3909 HP:0001231 Abnormality of the fingernails OMIM:245660 LAMA3 3909 HP:0200042 Skin ulcer OMIM:245660 LAMA3 3909 HP:0002575 Tracheoesophageal fistula OMIM:245660 LAMA3 3909 HP:0003593 Infantile onset OMIM:245660 LAMA3 3909 HP:0001608 Abnormality of the voice OMIM:245660 LAMA3 3909 HP:0000705 Amelogenesis imperfecta OMIM:613310 TSPAN12 23554 HP:0000505 Visual impairment OMIM:613310 TSPAN12 23554 HP:0000006 Autosomal dominant inheritance OMIM:613310 TSPAN12 23554 HP:0007917 Tractional retinal detachment OMIM:613310 TSPAN12 23554 HP:0001146 Pigmentary retinal degeneration OMIM:613310 TSPAN12 23554 HP:0000594 Shallow anterior chamber OMIM:613310 TSPAN12 23554 HP:0007964 Degenerative vitreoretinopathy OMIM:601104 MAPT 4137 HP:0002185 Neurofibrillary tangles OMIM:601104 MAPT 4137 HP:0002544 Retrocollis OMIM:601104 MAPT 4137 HP:0000605 Supranuclear gaze palsy OMIM:601104 MAPT 4137 HP:0000006 Autosomal dominant inheritance OMIM:601104 MAPT 4137 HP:0001300 Parkinsonism OMIM:601104 MAPT 4137 HP:0003581 Adult onset OMIM:601104 MAPT 4137 HP:0000651 Diplopia OMIM:601104 MAPT 4137 HP:0002304 Akinesia OMIM:601104 MAPT 4137 HP:0000737 Irritability OMIM:601104 MAPT 4137 HP:0001337 Tremor OMIM:601104 MAPT 4137 HP:0002015 Dysphagia OMIM:601104 MAPT 4137 HP:0002527 Falls OMIM:601104 MAPT 4137 HP:0000741 Apathy OMIM:601104 MAPT 4137 HP:0002528 Granulovacuolar degeneration OMIM:601104 MAPT 4137 HP:0000743 Frontal release signs OMIM:601104 MAPT 4137 HP:0000622 Blurred vision OMIM:601104 MAPT 4137 HP:0002451 Limb dystonia OMIM:601104 MAPT 4137 HP:0002529 Neuronal loss in central nervous system OMIM:601104 MAPT 4137 HP:0001260 Dysarthria OMIM:601104 MAPT 4137 HP:0002171 Gliosis OMIM:601104 MAPT 4137 HP:0002354 Memory impairment OMIM:601104 MAPT 4137 HP:0002530 Axial dystonia OMIM:601104 MAPT 4137 HP:0002439 Frontolimbic dementia OMIM:601104 MAPT 4137 HP:0000658 Eyelid apraxia OMIM:601104 MAPT 4137 HP:0002141 Gait imbalance OMIM:601104 MAPT 4137 HP:0002300 Mutism OMIM:601104 MAPT 4137 HP:0002067 Bradykinesia OMIM:601104 MAPT 4137 HP:0002063 Rigidity OMIM:601104 MAPT 4137 HP:0000613 Photophobia OMIM:615179 C10ORF11 83938 HP:0000639 Nystagmus OMIM:615179 C10ORF11 83938 HP:0001022 Albinism OMIM:615179 C10ORF11 83938 HP:0000007 Autosomal recessive inheritance OMIM:615179 C10ORF11 83938 HP:0000613 Photophobia OMIM:608971 IL7R 3575 HP:0004430 Severe combined immunodeficiency OMIM:608971 IL7R 3575 HP:0001744 Splenomegaly OMIM:608971 IL7R 3575 HP:0002240 Hepatomegaly OMIM:608971 IL7R 3575 HP:0008866 Failure to thrive secondary to recurrent infections OMIM:608971 IL7R 3575 HP:0002716 Lymphadenopathy OMIM:608971 IL7R 3575 HP:0000388 Otitis media OMIM:608971 IL7R 3575 HP:0000964 Eczema OMIM:608971 IL7R 3575 HP:0005379 Severe T lymphocytopenia OMIM:608971 IL7R 3575 HP:0002014 Diarrhea OMIM:608971 IL7R 3575 HP:0005390 Recurrent opportunistic infections OMIM:608971 IL7R 3575 HP:0000007 Autosomal recessive inheritance OMIM:608971 PTPRC 5788 HP:0004430 Severe combined immunodeficiency OMIM:608971 PTPRC 5788 HP:0001744 Splenomegaly OMIM:608971 PTPRC 5788 HP:0002240 Hepatomegaly OMIM:608971 PTPRC 5788 HP:0008866 Failure to thrive secondary to recurrent infections OMIM:608971 PTPRC 5788 HP:0002716 Lymphadenopathy OMIM:608971 PTPRC 5788 HP:0000388 Otitis media OMIM:608971 PTPRC 5788 HP:0000964 Eczema OMIM:608971 PTPRC 5788 HP:0005379 Severe T lymphocytopenia OMIM:608971 PTPRC 5788 HP:0002014 Diarrhea OMIM:608971 PTPRC 5788 HP:0005390 Recurrent opportunistic infections OMIM:608971 PTPRC 5788 HP:0000007 Autosomal recessive inheritance OMIM:115196 TPM1 7168 HP:0001639 Hypertrophic cardiomyopathy OMIM:115196 TPM1 7168 HP:0000006 Autosomal dominant inheritance ORPHANET:1334 TRAF3IP2 10758 HP:0000010 Recurrent urinary tract infections ORPHANET:1334 TRAF3IP2 10758 HP:0100825 Cheilitis ORPHANET:1334 TRAF3IP2 10758 HP:0001231 Abnormality of the fingernails ORPHANET:1334 TRAF3IP2 10758 HP:0000988 Skin rash ORPHANET:1334 TRAF3IP2 10758 HP:0002205 Recurrent respiratory infections ORPHANET:1334 TRAF3IP2 10758 HP:0000962 Hyperkeratosis ORPHANET:1334 TRAF3IP2 10758 HP:0001250 Seizures ORPHANET:1334 TRAF3IP2 10758 HP:0008388 Abnormality of the toenails ORPHANET:1334 TRAF3IP2 10758 HP:0004370 Abnormality of temperature regulation ORPHANET:1334 TRAF3IP2 10758 HP:0000142 Abnormality of the vagina ORPHANET:1334 TRAF3IP2 10758 HP:0000478 Abnormality of the eye ORPHANET:1334 TRAF3IP2 10758 HP:0000790 Hematuria ORPHANET:1334 TRAF3IP2 10758 HP:0000989 Pruritus ORPHANET:1334 TRAF3IP2 10758 HP:0002105 Hemoptysis ORPHANET:1334 TRAF3IP2 10758 HP:0008872 Feeding difficulties in infancy ORPHANET:1334 TRAF3IP2 10758 HP:0001392 Abnormality of the liver ORPHANET:1334 TRAF3IP2 10758 HP:0000682 Abnormality of dental enamel ORPHANET:1334 TRAF3IP2 10758 HP:0200042 Skin ulcer ORPHANET:1334 TRAF3IP2 10758 HP:0004306 Abnormality of the endocardium ORPHANET:1334 IL17F 112744 HP:0000010 Recurrent urinary tract infections ORPHANET:1334 IL17F 112744 HP:0100825 Cheilitis ORPHANET:1334 IL17F 112744 HP:0001231 Abnormality of the fingernails ORPHANET:1334 IL17F 112744 HP:0000988 Skin rash ORPHANET:1334 IL17F 112744 HP:0002205 Recurrent respiratory infections ORPHANET:1334 IL17F 112744 HP:0000962 Hyperkeratosis ORPHANET:1334 IL17F 112744 HP:0001250 Seizures ORPHANET:1334 IL17F 112744 HP:0008388 Abnormality of the toenails ORPHANET:1334 IL17F 112744 HP:0004370 Abnormality of temperature regulation ORPHANET:1334 IL17F 112744 HP:0000142 Abnormality of the vagina ORPHANET:1334 IL17F 112744 HP:0000478 Abnormality of the eye ORPHANET:1334 IL17F 112744 HP:0000790 Hematuria ORPHANET:1334 IL17F 112744 HP:0000989 Pruritus ORPHANET:1334 IL17F 112744 HP:0002105 Hemoptysis ORPHANET:1334 IL17F 112744 HP:0008872 Feeding difficulties in infancy ORPHANET:1334 IL17F 112744 HP:0001392 Abnormality of the liver ORPHANET:1334 IL17F 112744 HP:0000682 Abnormality of dental enamel ORPHANET:1334 IL17F 112744 HP:0200042 Skin ulcer ORPHANET:1334 IL17F 112744 HP:0004306 Abnormality of the endocardium ORPHANET:1334 IL17RA 23765 HP:0000010 Recurrent urinary tract infections ORPHANET:1334 IL17RA 23765 HP:0100825 Cheilitis ORPHANET:1334 IL17RA 23765 HP:0001231 Abnormality of the fingernails ORPHANET:1334 IL17RA 23765 HP:0000988 Skin rash ORPHANET:1334 IL17RA 23765 HP:0002205 Recurrent respiratory infections ORPHANET:1334 IL17RA 23765 HP:0000962 Hyperkeratosis ORPHANET:1334 IL17RA 23765 HP:0001250 Seizures ORPHANET:1334 IL17RA 23765 HP:0008388 Abnormality of the toenails ORPHANET:1334 IL17RA 23765 HP:0004370 Abnormality of temperature regulation ORPHANET:1334 IL17RA 23765 HP:0000142 Abnormality of the vagina ORPHANET:1334 IL17RA 23765 HP:0000478 Abnormality of the eye ORPHANET:1334 IL17RA 23765 HP:0000790 Hematuria ORPHANET:1334 IL17RA 23765 HP:0000989 Pruritus ORPHANET:1334 IL17RA 23765 HP:0002105 Hemoptysis ORPHANET:1334 IL17RA 23765 HP:0008872 Feeding difficulties in infancy ORPHANET:1334 IL17RA 23765 HP:0001392 Abnormality of the liver ORPHANET:1334 IL17RA 23765 HP:0000682 Abnormality of dental enamel ORPHANET:1334 IL17RA 23765 HP:0200042 Skin ulcer ORPHANET:1334 IL17RA 23765 HP:0004306 Abnormality of the endocardium ORPHANET:1334 CLEC7A 64581 HP:0000010 Recurrent urinary tract infections ORPHANET:1334 CLEC7A 64581 HP:0100825 Cheilitis ORPHANET:1334 CLEC7A 64581 HP:0001231 Abnormality of the fingernails ORPHANET:1334 CLEC7A 64581 HP:0000988 Skin rash ORPHANET:1334 CLEC7A 64581 HP:0002205 Recurrent respiratory infections ORPHANET:1334 CLEC7A 64581 HP:0000962 Hyperkeratosis ORPHANET:1334 CLEC7A 64581 HP:0001250 Seizures ORPHANET:1334 CLEC7A 64581 HP:0008388 Abnormality of the toenails ORPHANET:1334 CLEC7A 64581 HP:0004370 Abnormality of temperature regulation ORPHANET:1334 CLEC7A 64581 HP:0000142 Abnormality of the vagina ORPHANET:1334 CLEC7A 64581 HP:0000478 Abnormality of the eye ORPHANET:1334 CLEC7A 64581 HP:0000790 Hematuria ORPHANET:1334 CLEC7A 64581 HP:0000989 Pruritus ORPHANET:1334 CLEC7A 64581 HP:0002105 Hemoptysis ORPHANET:1334 CLEC7A 64581 HP:0008872 Feeding difficulties in infancy ORPHANET:1334 CLEC7A 64581 HP:0001392 Abnormality of the liver ORPHANET:1334 CLEC7A 64581 HP:0000682 Abnormality of dental enamel ORPHANET:1334 CLEC7A 64581 HP:0200042 Skin ulcer ORPHANET:1334 CLEC7A 64581 HP:0004306 Abnormality of the endocardium ORPHANET:1334 STAT1 6772 HP:0000010 Recurrent urinary tract infections ORPHANET:1334 STAT1 6772 HP:0100825 Cheilitis ORPHANET:1334 STAT1 6772 HP:0001231 Abnormality of the fingernails ORPHANET:1334 STAT1 6772 HP:0000988 Skin rash ORPHANET:1334 STAT1 6772 HP:0002205 Recurrent respiratory infections ORPHANET:1334 STAT1 6772 HP:0000962 Hyperkeratosis ORPHANET:1334 STAT1 6772 HP:0001250 Seizures ORPHANET:1334 STAT1 6772 HP:0008388 Abnormality of the toenails ORPHANET:1334 STAT1 6772 HP:0004370 Abnormality of temperature regulation ORPHANET:1334 STAT1 6772 HP:0000142 Abnormality of the vagina ORPHANET:1334 STAT1 6772 HP:0000478 Abnormality of the eye ORPHANET:1334 STAT1 6772 HP:0000790 Hematuria ORPHANET:1334 STAT1 6772 HP:0000989 Pruritus ORPHANET:1334 STAT1 6772 HP:0002105 Hemoptysis ORPHANET:1334 STAT1 6772 HP:0008872 Feeding difficulties in infancy ORPHANET:1334 STAT1 6772 HP:0001392 Abnormality of the liver ORPHANET:1334 STAT1 6772 HP:0000682 Abnormality of dental enamel ORPHANET:1334 STAT1 6772 HP:0200042 Skin ulcer ORPHANET:1334 STAT1 6772 HP:0004306 Abnormality of the endocardium ORPHANET:1334 CARD9 64170 HP:0000010 Recurrent urinary tract infections ORPHANET:1334 CARD9 64170 HP:0100825 Cheilitis ORPHANET:1334 CARD9 64170 HP:0001231 Abnormality of the fingernails ORPHANET:1334 CARD9 64170 HP:0000988 Skin rash ORPHANET:1334 CARD9 64170 HP:0002205 Recurrent respiratory infections ORPHANET:1334 CARD9 64170 HP:0000962 Hyperkeratosis ORPHANET:1334 CARD9 64170 HP:0001250 Seizures ORPHANET:1334 CARD9 64170 HP:0008388 Abnormality of the toenails ORPHANET:1334 CARD9 64170 HP:0004370 Abnormality of temperature regulation ORPHANET:1334 CARD9 64170 HP:0000142 Abnormality of the vagina ORPHANET:1334 CARD9 64170 HP:0000478 Abnormality of the eye ORPHANET:1334 CARD9 64170 HP:0000790 Hematuria ORPHANET:1334 CARD9 64170 HP:0000989 Pruritus ORPHANET:1334 CARD9 64170 HP:0002105 Hemoptysis ORPHANET:1334 CARD9 64170 HP:0008872 Feeding difficulties in infancy ORPHANET:1334 CARD9 64170 HP:0001392 Abnormality of the liver ORPHANET:1334 CARD9 64170 HP:0000682 Abnormality of dental enamel ORPHANET:1334 CARD9 64170 HP:0200042 Skin ulcer ORPHANET:1334 CARD9 64170 HP:0004306 Abnormality of the endocardium ORPHANET:83465 HLA-DQB1 3119 HP:0002360 Sleep disturbance ORPHANET:83465 HLA-DQB1 3119 HP:0004372 Reduced consciousness/confusion ORPHANET:83465 HLA-DQB1 3119 HP:0000738 Hallucinations ORPHANET:83465 HLA-DRB1 3123 HP:0002360 Sleep disturbance ORPHANET:83465 HLA-DRB1 3123 HP:0004372 Reduced consciousness/confusion ORPHANET:83465 HLA-DRB1 3123 HP:0000738 Hallucinations ORPHANET:83465 ZNF365 22891 HP:0002360 Sleep disturbance ORPHANET:83465 ZNF365 22891 HP:0004372 Reduced consciousness/confusion ORPHANET:83465 ZNF365 22891 HP:0000738 Hallucinations ORPHANET:83465 HCRT 3060 HP:0002360 Sleep disturbance ORPHANET:83465 HCRT 3060 HP:0004372 Reduced consciousness/confusion ORPHANET:83465 HCRT 3060 HP:0000738 Hallucinations OMIM:602535 NFIX 4784 HP:0009845 Bullet-shaped middle phalanges of the hand OMIM:602535 NFIX 4784 HP:0006048 Distal widening of metacarpals OMIM:602535 NFIX 4784 HP:0000586 Shallow orbits OMIM:602535 NFIX 4784 HP:0000405 Conductive hearing impairment OMIM:602535 NFIX 4784 HP:0000453 Choanal atresia OMIM:602535 NFIX 4784 HP:0000963 Thin skin OMIM:602535 NFIX 4784 HP:0002007 Frontal bossing OMIM:602535 NFIX 4784 HP:0003745 Sporadic OMIM:602535 NFIX 4784 HP:0000574 Thick eyebrow OMIM:602535 NFIX 4784 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:602535 NFIX 4784 HP:0003414 Atlantoaxial dislocation OMIM:602535 NFIX 4784 HP:0003819 Death in childhood OMIM:602535 NFIX 4784 HP:0000006 Autosomal dominant inheritance OMIM:602535 NFIX 4784 HP:0002100 Recurrent aspiration pneumonia OMIM:602535 NFIX 4784 HP:0003100 Slender long bone OMIM:602535 NFIX 4784 HP:0000998 Hypertrichosis OMIM:602535 NFIX 4784 HP:0002119 Ventriculomegaly OMIM:602535 NFIX 4784 HP:0000365 Hearing impairment OMIM:602535 NFIX 4784 HP:0000347 Micrognathia OMIM:602535 NFIX 4784 HP:0004325 Decreased body weight OMIM:602535 NFIX 4784 HP:0000278 Retrognathia OMIM:602535 NFIX 4784 HP:0005280 Depressed nasal bridge OMIM:602535 NFIX 4784 HP:0002650 Scoliosis OMIM:602535 NFIX 4784 HP:0011220 Prominent forehead OMIM:602535 NFIX 4784 HP:0003778 Short mandibular rami OMIM:602535 NFIX 4784 HP:0000212 Gingival overgrowth OMIM:602535 NFIX 4784 HP:0002652 Skeletal dysplasia OMIM:602535 NFIX 4784 HP:0040079 Irregular dentition OMIM:602535 NFIX 4784 HP:0000369 Low-set ears OMIM:602535 NFIX 4784 HP:0004349 Reduced bone mineral density OMIM:602535 NFIX 4784 HP:0002092 Pulmonary hypertension OMIM:602535 NFIX 4784 HP:0001643 Patent ductus arteriosus OMIM:602535 NFIX 4784 HP:0011800 Midface retrusion OMIM:602535 NFIX 4784 HP:0000157 Abnormality of the tongue OMIM:602535 NFIX 4784 HP:0001508 Failure to thrive OMIM:602535 NFIX 4784 HP:0000592 Blue sclerae OMIM:602535 NFIX 4784 HP:0001252 Muscular hypotonia OMIM:602535 NFIX 4784 HP:0000162 Glossoptosis OMIM:602535 NFIX 4784 HP:0001539 Omphalocele OMIM:602535 NFIX 4784 HP:0002757 Recurrent fractures OMIM:602535 NFIX 4784 HP:0000463 Anteverted nares OMIM:602535 NFIX 4784 HP:0006642 Large sternal ossification centers OMIM:602535 NFIX 4784 HP:0000648 Optic atrophy OMIM:602535 NFIX 4784 HP:0009882 Short distal phalanx of finger OMIM:602535 NFIX 4784 HP:0002093 Respiratory insufficiency OMIM:602535 NFIX 4784 HP:0001537 Umbilical hernia OMIM:602535 NFIX 4784 HP:0001274 Agenesis of corpus callosum OMIM:602535 NFIX 4784 HP:0000767 Pectus excavatum OMIM:602535 NFIX 4784 HP:0003196 Short nose OMIM:602535 NFIX 4784 HP:0000978 Bruising susceptibility OMIM:602535 NFIX 4784 HP:0001249 Intellectual disability OMIM:602535 NFIX 4784 HP:0100543 Cognitive impairment OMIM:602535 NFIX 4784 HP:0002870 Obstructive sleep apnea OMIM:602535 NFIX 4784 HP:0002059 Cerebral atrophy OMIM:602535 NFIX 4784 HP:0001631 Defect in the atrial septum OMIM:602535 NFIX 4784 HP:0000396 Overfolded helix OMIM:602535 NFIX 4784 HP:0010759 Premaxillary Prominence OMIM:602535 NFIX 4784 HP:0005616 Accelerated skeletal maturation OMIM:602535 NFIX 4784 HP:0000974 Hyperextensible skin OMIM:602535 NFIX 4784 HP:0000272 Malar flattening OMIM:602535 NFIX 4784 HP:0001601 Laryngomalacia OMIM:602535 NFIX 4784 HP:0000664 Synophrys OMIM:602535 NFIX 4784 HP:0002564 Malformation of the heart and great vessels OMIM:602535 NFIX 4784 HP:0001363 Craniosynostosis OMIM:602535 NFIX 4784 HP:0001382 Joint hypermobility OMIM:602535 NFIX 4784 HP:0007227 Macrogyria OMIM:602535 NFIX 4784 HP:0000098 Tall stature OMIM:602535 NFIX 4784 HP:0006487 Bowing of the long bones OMIM:602535 NFIX 4784 HP:0000322 Short philtrum OMIM:602535 NFIX 4784 HP:0001270 Motor delay OMIM:602535 NFIX 4784 HP:0000316 Hypertelorism OMIM:602535 NFIX 4784 HP:0003311 Hypoplasia of the odontoid process OMIM:602535 NFIX 4784 HP:0000452 Choanal stenosis OMIM:602535 NFIX 4784 HP:0000194 Open mouth OMIM:602535 NFIX 4784 HP:0000879 Short sternum OMIM:602535 NFIX 4784 HP:0000520 Proptosis OMIM:304800 AVPR2 554 HP:0000103 Polyuria OMIM:304800 AVPR2 554 HP:0001959 Polydipsia OMIM:304800 AVPR2 554 HP:0004322 Short stature OMIM:304800 AVPR2 554 HP:0000021 Megacystis OMIM:304800 AVPR2 554 HP:0001250 Seizures OMIM:304800 AVPR2 554 HP:0008872 Feeding difficulties in infancy OMIM:304800 AVPR2 554 HP:0001508 Failure to thrive OMIM:304800 AVPR2 554 HP:0001955 Unexplained fevers OMIM:304800 AVPR2 554 HP:0002019 Constipation OMIM:304800 AVPR2 554 HP:0003228 Hypernatremia OMIM:304800 AVPR2 554 HP:0000737 Irritability OMIM:304800 AVPR2 554 HP:0002013 Vomiting OMIM:304800 AVPR2 554 HP:0001419 X-linked recessive inheritance OMIM:304800 AVPR2 554 HP:0000873 Diabetes insipidus OMIM:304800 AVPR2 554 HP:0001986 Hypertonic dehydration OMIM:304800 AVPR2 554 HP:0003623 Neonatal onset OMIM:304800 AVPR2 554 HP:0001249 Intellectual disability OMIM:167770 REG1A 5967 HP:0005236 Chronic calcifying pancreatitis OMIM:167770 REG1A 5967 HP:0000006 Autosomal dominant inheritance OMIM:167770 REG1A 5967 HP:0001939 Abnormality of metabolism/homeostasis OMIM:609273 KBTBD13 390594 HP:0003552 Muscle stiffness OMIM:609273 KBTBD13 390594 HP:0009046 Difficulty running OMIM:609273 KBTBD13 390594 HP:0003551 Difficulty climbing stairs OMIM:609273 KBTBD13 390594 HP:0003690 Limb muscle weakness OMIM:609273 KBTBD13 390594 HP:0003198 Myopathy OMIM:609273 KBTBD13 390594 HP:0003677 Slow progression OMIM:609273 KBTBD13 390594 HP:0001288 Gait disturbance OMIM:609273 KBTBD13 390594 HP:0000006 Autosomal dominant inheritance OMIM:609273 KBTBD13 390594 HP:0003798 Nemaline bodies OMIM:609273 KBTBD13 390594 HP:0003722 Neck flexor weakness OMIM:615937 AKT3 10000 HP:0000974 Hyperextensible skin OMIM:615937 AKT3 10000 HP:0001250 Seizures OMIM:615937 AKT3 10000 HP:0000256 Macrocephaly OMIM:615937 AKT3 10000 HP:0007206 Hemimegalencephaly OMIM:615937 AKT3 10000 HP:0000965 Cutis marmorata OMIM:615937 AKT3 10000 HP:0002119 Ventriculomegaly OMIM:615937 AKT3 10000 HP:0002126 Polymicrogyria OMIM:615937 AKT3 10000 HP:0001249 Intellectual disability OMIM:615937 AKT3 10000 HP:0002079 Hypoplasia of the corpus callosum OMIM:615937 AKT3 10000 HP:0001162 Postaxial hand polydactyly OMIM:615937 AKT3 10000 HP:0000238 Hydrocephalus OMIM:613916 KARS 3735 HP:0000007 Autosomal recessive inheritance OMIM:613916 KARS 3735 HP:0000365 Hearing impairment ORPHANET:888 IRF6 3664 HP:0100335 Non-midline cleft lip ORPHANET:888 IRF6 3664 HP:0010286 Abnormality of the salivary glands ORPHANET:888 IRF6 3664 HP:0000175 Cleft palate ORPHANET:888 IRF6 3664 HP:0009804 Reduced number of teeth ORPHANET:888 IRF6 3664 HP:0100267 Lip pit ORPHANET:888 GRHL3 57822 HP:0100335 Non-midline cleft lip ORPHANET:888 GRHL3 57822 HP:0010286 Abnormality of the salivary glands ORPHANET:888 GRHL3 57822 HP:0000175 Cleft palate ORPHANET:888 GRHL3 57822 HP:0009804 Reduced number of teeth ORPHANET:888 GRHL3 57822 HP:0100267 Lip pit OMIM:613960 NCF4 4689 HP:0011107 Recurrent aphthous stomatitis OMIM:613960 NCF4 4689 HP:0002014 Diarrhea OMIM:613960 NCF4 4689 HP:0000007 Autosomal recessive inheritance OMIM:613960 NCF4 4689 HP:0011127 Perioral eczema OMIM:613960 NCF4 4689 HP:0011108 Recurrent sinusitis OMIM:601144 SCN5A 6331 HP:0001699 Sudden death OMIM:601144 SCN5A 6331 HP:0001695 Cardiac arrest OMIM:601144 SCN5A 6331 HP:0000006 Autosomal dominant inheritance OMIM:601144 SCN5A 6331 HP:0001663 Ventricular fibrillation OMIM:610967 IFITM5 387733 HP:0000926 Platyspondyly OMIM:610967 IFITM5 387733 HP:0000325 Triangular face OMIM:610967 IFITM5 387733 HP:0000006 Autosomal dominant inheritance OMIM:610967 IFITM5 387733 HP:0004322 Short stature OMIM:610967 IFITM5 387733 HP:0002645 Wormian bones OMIM:610967 IFITM5 387733 HP:0008422 Vertebral wedging OMIM:610967 IFITM5 387733 HP:0004586 Biconcave vertebral bodies OMIM:610967 IFITM5 387733 HP:0030268 Hyperplastic callus formation OMIM:610967 IFITM5 387733 HP:0001382 Joint hypermobility OMIM:610967 IFITM5 387733 HP:0005084 Anterior radial head dislocation OMIM:610967 IFITM5 387733 HP:0000938 Osteopenia OMIM:610967 IFITM5 387733 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:610967 IFITM5 387733 HP:0001939 Abnormality of metabolism/homeostasis OMIM:610967 IFITM5 387733 HP:0006394 Limited pronation/supination of forearm OMIM:610967 IFITM5 387733 HP:0000703 Dentinogenesis imperfecta OMIM:610967 IFITM5 387733 HP:0002757 Recurrent fractures OMIM:610967 IFITM5 387733 HP:0000592 Blue sclerae OMIM:160120 KCNA1 3736 HP:0100022 Abnormality of movement OMIM:160120 KCNA1 3736 HP:0001276 Hypertonia OMIM:160120 KCNA1 3736 HP:0002131 Episodic ataxia OMIM:160120 KCNA1 3736 HP:0003621 Juvenile onset OMIM:160120 KCNA1 3736 HP:0002315 Headache OMIM:160120 KCNA1 3736 HP:0002064 Spastic gait OMIM:160120 KCNA1 3736 HP:0001155 Abnormality of the hand OMIM:160120 KCNA1 3736 HP:0002311 Incoordination OMIM:160120 KCNA1 3736 HP:0000776 Congenital diaphragmatic hernia OMIM:160120 KCNA1 3736 HP:0002411 Myokymia OMIM:160120 KCNA1 3736 HP:0001260 Dysarthria OMIM:160120 KCNA1 3736 HP:0003487 Babinski sign OMIM:160120 KCNA1 3736 HP:0001350 Slurred speech OMIM:160120 KCNA1 3736 HP:0003828 Variable expressivity OMIM:160120 KCNA1 3736 HP:0003457 EMG abnormality OMIM:160120 KCNA1 3736 HP:0000006 Autosomal dominant inheritance OMIM:160120 KCNA1 3736 HP:0000622 Blurred vision OMIM:160120 KCNA1 3736 HP:0001337 Tremor OMIM:160120 KCNA1 3736 HP:0002167 Neurological speech impairment OMIM:160120 KCNA1 3736 HP:0001250 Seizures OMIM:160120 KCNA1 3736 HP:0001347 Hyperreflexia OMIM:160120 KCNA1 3736 HP:0002321 Vertigo OMIM:160120 KCNA1 3736 HP:0003236 Elevated serum creatine phosphokinase OMIM:611277 GABRG2 2566 HP:0002373 Febrile seizures OMIM:611277 GABRG2 2566 HP:0002069 Generalized tonic-clonic seizures OMIM:611277 GABRG2 2566 HP:0010819 Atonic seizures OMIM:611277 GABRG2 2566 HP:0007359 Focal seizures OMIM:611277 GABRG2 2566 HP:0002121 Absence seizures OMIM:611277 GABRG2 2566 HP:0003828 Variable expressivity OMIM:611277 GABRG2 2566 HP:0000006 Autosomal dominant inheritance OMIM:601547 CRYBB2 1415 HP:0000006 Autosomal dominant inheritance OMIM:601547 CRYBB2 1415 HP:0000519 Congenital cataract OMIM:601547 CRYBB2 1415 HP:0007976 Cerulean cataract OMIM:601547 CRYBB2 1415 HP:0010695 Sutural cataract OMIM:607450 DSP 1832 HP:0001645 Sudden cardiac death OMIM:607450 DSP 1832 HP:0011663 Right ventricular cardiomyopathy OMIM:607450 DSP 1832 HP:0000006 Autosomal dominant inheritance OMIM:607450 DSP 1832 HP:0001635 Congestive heart failure OMIM:607450 DSP 1832 HP:0004756 Ventricular tachycardia OMIM:607450 DSP 1832 HP:0001663 Ventricular fibrillation OMIM:607450 DSP 1832 HP:0006682 Ventricular extrasystoles OMIM:607450 DSP 1832 HP:0001425 Heterogeneous OMIM:614947 MTFMT 123263 HP:0000639 Nystagmus OMIM:614947 MTFMT 123263 HP:0100543 Cognitive impairment OMIM:614947 MTFMT 123263 HP:0001252 Muscular hypotonia OMIM:614947 MTFMT 123263 HP:0001716 Wolff-Parkinson-White syndrome OMIM:614947 MTFMT 123263 HP:0002311 Incoordination OMIM:614947 MTFMT 123263 HP:0001629 Ventricular septal defect OMIM:614947 MTFMT 123263 HP:0001263 Global developmental delay OMIM:614947 MTFMT 123263 HP:0000486 Strabismus OMIM:614947 MTFMT 123263 HP:0002500 Abnormality of the cerebral white matter OMIM:614947 MTFMT 123263 HP:0002151 Increased serum lactate OMIM:614947 MTFMT 123263 HP:0001251 Ataxia OMIM:614947 MTFMT 123263 HP:0000505 Visual impairment OMIM:614947 MTFMT 123263 HP:0000648 Optic atrophy OMIM:614947 MTFMT 123263 HP:0000750 Delayed speech and language development OMIM:614947 MTFMT 123263 HP:0007256 Abnormal pyramidal signs OMIM:614947 MTFMT 123263 HP:0002490 Increased CSF lactate OMIM:614947 MTFMT 123263 HP:0001250 Seizures OMIM:614947 MTFMT 123263 HP:0002317 Unsteady gait OMIM:614947 MTFMT 123263 HP:0001337 Tremor OMIM:614947 MTFMT 123263 HP:0004322 Short stature OMIM:614947 MTFMT 123263 HP:0003812 Phenotypic variability OMIM:614947 MTFMT 123263 HP:0001513 Obesity OMIM:614947 MTFMT 123263 HP:0000007 Autosomal recessive inheritance OMIM:614947 MTFMT 123263 HP:0000252 Microcephaly OMIM:611755 CEP290 80184 HP:0000007 Autosomal recessive inheritance OMIM:611755 CEP290 80184 HP:0004409 Hyposmia OMIM:611755 CEP290 80184 HP:0000505 Visual impairment OMIM:611755 CEP290 80184 HP:0001250 Seizures OMIM:600737 GNE 10020 HP:0003797 Limb-girdle muscle atrophy OMIM:600737 GNE 10020 HP:0001288 Gait disturbance OMIM:600737 GNE 10020 HP:0003325 Limb-girdle muscle weakness OMIM:600737 GNE 10020 HP:0000007 Autosomal recessive inheritance OMIM:600737 GNE 10020 HP:0003805 Rimmed vacuoles OMIM:600737 GNE 10020 HP:0003693 Distal amyotrophy OMIM:600737 GNE 10020 HP:0003581 Adult onset OMIM:600737 GNE 10020 HP:0003458 EMG: myopathic abnormalities OMIM:600737 GNE 10020 HP:0003236 Elevated serum creatine phosphokinase OMIM:600737 GNE 10020 HP:0003791 Deposits immunoreactive to beta-amyloid protein OMIM:600737 GNE 10020 HP:0003701 Proximal muscle weakness OMIM:306400 CYBB 1536 HP:0007417 Discoid lupus erythematosus OMIM:306400 CYBB 1536 HP:0002742 Recurrent Klebsiella infections OMIM:306400 CYBB 1536 HP:0002755 Osteomyelitis due to immunodeficiency OMIM:306400 CYBB 1536 HP:0001744 Splenomegaly OMIM:306400 CYBB 1536 HP:0003203 Negative nitroblue tetrazolium (NBT) reduction test OMIM:306400 CYBB 1536 HP:0003621 Juvenile onset OMIM:306400 CYBB 1536 HP:0002842 Recurrent Burkholderia cepacia infections OMIM:306400 CYBB 1536 HP:0002726 Recurrent Staphylococcus aureus infections OMIM:306400 CYBB 1536 HP:0002740 Recurrent E. coli infections OMIM:306400 CYBB 1536 HP:0002955 Granulomatosis OMIM:306400 CYBB 1536 HP:0006532 Recurrent pneumonia OMIM:306400 CYBB 1536 HP:0002724 Recurrent Aspergillus infections OMIM:306400 CYBB 1536 HP:0003553 Cellulitis due to immunodeficiency OMIM:306400 CYBB 1536 HP:0001400 Hepatic abscesses due to immunodeficiency OMIM:306400 CYBB 1536 HP:0003206 Decreased activity of NADPH oxidase OMIM:306400 CYBB 1536 HP:0005406 Recurrent bacterial skin infections OMIM:306400 CYBB 1536 HP:0002840 Lymphadenitis OMIM:306400 CYBB 1536 HP:0002741 Recurrent Serratia marcescens infections OMIM:306400 CYBB 1536 HP:0005224 Rectal abscess OMIM:306400 CYBB 1536 HP:0003514 Deficiency or absence of cytochrome b(-245) OMIM:306400 CYBB 1536 HP:0001419 X-linked recessive inheritance OMIM:306400 CYBB 1536 HP:0002240 Hepatomegaly OMIM:306400 CYBB 1536 HP:0002723 Absence of bactericidal oxidative 'respiratory burst' in phagocytes OMIM:306400 CYBB 1536 HP:0002716 Lymphadenopathy OMIM:306400 CYBB 1536 HP:0000976 Eczematoid dermatitis OMIM:260540 MAPT 4137 HP:0002751 Kyphoscoliosis OMIM:260540 MAPT 4137 HP:0003581 Adult onset OMIM:260540 MAPT 4137 HP:0000726 Dementia OMIM:260540 MAPT 4137 HP:0002062 Morphological abnormality of the pyramidal tract OMIM:260540 MAPT 4137 HP:0007256 Abnormal pyramidal signs OMIM:260540 MAPT 4137 HP:0002063 Rigidity OMIM:260540 MAPT 4137 HP:0001300 Parkinsonism OMIM:260540 MAPT 4137 HP:0000597 Ophthalmoparesis OMIM:260540 MAPT 4137 HP:0001337 Tremor OMIM:609536 C5 727 HP:0002041 Intractable diarrhea OMIM:609536 C5 727 HP:0004431 Complement deficiency OMIM:609536 C5 727 HP:0007569 Generalized seborrheic dermatitis OMIM:609536 C5 727 HP:0000007 Autosomal recessive inheritance OMIM:609536 C5 727 HP:0002719 Recurrent infections OMIM:609536 C5 727 HP:0006946 Recurrent meningitis OMIM:615780 KIZ 55857 HP:0000510 Retinitis pigmentosa OMIM:615780 KIZ 55857 HP:0200099 Peripheral retinal pigmentation abnormalities OMIM:274300 THRB 7068 HP:0001518 Small for gestational age OMIM:274300 THRB 7068 HP:0000365 Hearing impairment OMIM:274300 THRB 7068 HP:0000853 Goiter OMIM:274300 THRB 7068 HP:0000520 Proptosis OMIM:274300 THRB 7068 HP:0002930 Thyroid hormone receptor defect OMIM:274300 THRB 7068 HP:0010655 Epiphyseal stippling OMIM:274300 THRB 7068 HP:0000007 Autosomal recessive inheritance OMIM:614673 CEP135 9662 HP:0003577 Congenital onset OMIM:614673 CEP135 9662 HP:0010864 Intellectual disability, severe OMIM:614673 CEP135 9662 HP:0000340 Sloping forehead OMIM:614673 CEP135 9662 HP:0000007 Autosomal recessive inheritance OMIM:614673 CEP135 9662 HP:0000252 Microcephaly OMIM:614673 CEP135 9662 HP:0000278 Retrognathia OMIM:608471 TGFBI 7045 HP:0000505 Visual impairment OMIM:608471 TGFBI 7045 HP:0001149 Lattice corneal dystrophy OMIM:608471 TGFBI 7045 HP:0200020 Corneal erosion OMIM:608471 TGFBI 7045 HP:0000006 Autosomal dominant inheritance OMIM:241600 B2M 567 HP:0003075 Hypoproteinemia OMIM:241600 B2M 567 HP:0003073 Hypoalbuminemia OMIM:241600 B2M 567 HP:0002986 Radial bowing OMIM:241600 B2M 567 HP:0004315 IgG deficiency OMIM:241600 B2M 567 HP:0000007 Autosomal recessive inheritance OMIM:241600 B2M 567 HP:0003022 Hypoplasia of the ulna OMIM:263570 GBE1 2632 HP:0001939 Abnormality of metabolism/homeostasis OMIM:263570 GBE1 2632 HP:0000708 Behavioral abnormality OMIM:263570 GBE1 2632 HP:0002376 Developmental regression OMIM:263570 GBE1 2632 HP:0001276 Hypertonia OMIM:263570 GBE1 2632 HP:0001288 Gait disturbance OMIM:263570 GBE1 2632 HP:0001376 Limitation of joint mobility OMIM:263570 GBE1 2632 HP:0200042 Skin ulcer OMIM:263570 GBE1 2632 HP:0000011 Neurogenic bladder OMIM:263570 GBE1 2632 HP:0003401 Paresthesia OMIM:263570 GBE1 2632 HP:0100639 Erectile abnormalities OMIM:263570 GBE1 2632 HP:0002936 Distal sensory impairment OMIM:263570 GBE1 2632 HP:0002071 Abnormality of extrapyramidal motor function OMIM:263570 GBE1 2632 HP:0002273 Tetraparesis OMIM:263570 GBE1 2632 HP:0003581 Adult onset OMIM:263570 GBE1 2632 HP:0002127 Abnormal upper motor neuron morphology OMIM:263570 GBE1 2632 HP:0003677 Slow progression OMIM:263570 GBE1 2632 HP:0001324 Muscle weakness OMIM:263570 GBE1 2632 HP:0100543 Cognitive impairment OMIM:263570 GBE1 2632 HP:0002500 Abnormality of the cerebral white matter OMIM:263570 GBE1 2632 HP:0007256 Abnormal pyramidal signs OMIM:263570 GBE1 2632 HP:0002311 Incoordination OMIM:263570 GBE1 2632 HP:0003457 EMG abnormality OMIM:263570 GBE1 2632 HP:0000007 Autosomal recessive inheritance OMIM:263570 GBE1 2632 HP:0009830 Peripheral neuropathy OMIM:263570 GBE1 2632 HP:0004374 Hemiplegia/hemiparesis OMIM:263570 GBE1 2632 HP:0012211 Abnormal renal physiology OMIM:612126 SLC2A1 6513 HP:0001266 Choreoathetosis OMIM:612126 SLC2A1 6513 HP:0100543 Cognitive impairment OMIM:612126 SLC2A1 6513 HP:0002353 EEG abnormality OMIM:612126 SLC2A1 6513 HP:0001251 Ataxia OMIM:612126 SLC2A1 6513 HP:0001263 Global developmental delay OMIM:612126 SLC2A1 6513 HP:0002076 Migraine OMIM:612126 SLC2A1 6513 HP:0001923 Reticulocytosis OMIM:612126 SLC2A1 6513 HP:0000006 Autosomal dominant inheritance OMIM:612126 SLC2A1 6513 HP:0001332 Dystonia OMIM:612126 SLC2A1 6513 HP:0011972 Hypoglycorrhachia OMIM:612126 SLC2A1 6513 HP:0003829 Incomplete penetrance OMIM:612126 SLC2A1 6513 HP:0000737 Irritability OMIM:612126 SLC2A1 6513 HP:0002059 Cerebral atrophy OMIM:612126 SLC2A1 6513 HP:0100660 Dyskinesia OMIM:613159 XPNPEP3 63929 HP:0000407 Sensorineural hearing impairment OMIM:613159 XPNPEP3 63929 HP:0000090 Nephronophthisis OMIM:613159 XPNPEP3 63929 HP:0000108 Renal corticomedullary cysts OMIM:613159 XPNPEP3 63929 HP:0001737 Pancreatic cysts OMIM:613159 XPNPEP3 63929 HP:0006280 Chronic pancreatitis OMIM:613159 XPNPEP3 63929 HP:0001249 Intellectual disability OMIM:613159 XPNPEP3 63929 HP:0003774 Stage 5 chronic kidney disease OMIM:613159 XPNPEP3 63929 HP:0001250 Seizures OMIM:613159 XPNPEP3 63929 HP:0100702 Arachnoid cyst OMIM:613159 XPNPEP3 63929 HP:0000092 Tubular atrophy OMIM:613159 XPNPEP3 63929 HP:0005583 Tubular basement membrane disintegration OMIM:613159 XPNPEP3 63929 HP:0000007 Autosomal recessive inheritance OMIM:613159 XPNPEP3 63929 HP:0000822 Hypertension OMIM:612016 ADCK3 56997 HP:0001272 Cerebellar atrophy OMIM:612016 ADCK3 56997 HP:0003128 Lactic acidosis OMIM:612016 ADCK3 56997 HP:0001761 Pes cavus OMIM:612016 ADCK3 56997 HP:0001252 Muscular hypotonia OMIM:612016 ADCK3 56997 HP:0003828 Variable expressivity OMIM:612016 ADCK3 56997 HP:0001337 Tremor OMIM:612016 ADCK3 56997 HP:0003701 Proximal muscle weakness OMIM:612016 ADCK3 56997 HP:0007256 Abnormal pyramidal signs OMIM:612016 ADCK3 56997 HP:0012240 Increased intramyocellular lipid droplets OMIM:612016 ADCK3 56997 HP:0001250 Seizures OMIM:612016 ADCK3 56997 HP:0000007 Autosomal recessive inheritance OMIM:612016 ADCK3 56997 HP:0003546 Exercise intolerance OMIM:612016 ADCK3 56997 HP:0001251 Ataxia OMIM:612016 ADCK3 56997 HP:0001336 Myoclonus OMIM:612016 ADCK3 56997 HP:0001347 Hyperreflexia OMIM:614457 ELOVL4 6785 HP:0000962 Hyperkeratosis OMIM:614457 ELOVL4 6785 HP:0011003 Severe Myopia OMIM:614457 ELOVL4 6785 HP:0000252 Microcephaly OMIM:614457 ELOVL4 6785 HP:0002099 Asthma OMIM:614457 ELOVL4 6785 HP:0012448 Delayed myelination OMIM:614457 ELOVL4 6785 HP:0000023 Inguinal hernia OMIM:614457 ELOVL4 6785 HP:0002187 Intellectual disability, profound OMIM:614457 ELOVL4 6785 HP:0012444 Brain atrophy OMIM:614457 ELOVL4 6785 HP:0000007 Autosomal recessive inheritance OMIM:614457 ELOVL4 6785 HP:0003577 Congenital onset OMIM:614457 ELOVL4 6785 HP:0000958 Dry skin OMIM:614457 ELOVL4 6785 HP:0000649 Abnormality of vision evoked potentials OMIM:614457 ELOVL4 6785 HP:0001371 Flexion contracture OMIM:614457 ELOVL4 6785 HP:0010783 Erythema OMIM:614457 ELOVL4 6785 HP:0001263 Global developmental delay OMIM:614457 ELOVL4 6785 HP:0008064 Ichthyosis OMIM:614457 ELOVL4 6785 HP:0002123 Generalized myoclonic seizures OMIM:614457 ELOVL4 6785 HP:0001510 Growth delay OMIM:614457 ELOVL4 6785 HP:0002510 Spastic tetraplegia OMIM:614171 BLOC1S6 26258 HP:0001010 Hypopigmentation of the skin OMIM:614171 BLOC1S6 26258 HP:0000007 Autosomal recessive inheritance OMIM:614171 BLOC1S6 26258 HP:0000639 Nystagmus OMIM:614171 BLOC1S6 26258 HP:0007894 Hypopigmentation of the fundus OMIM:215150 COL2A1 1280 HP:0000410 Mixed hearing impairment OMIM:215150 COL2A1 1280 HP:0002829 Arthralgia OMIM:215150 COL2A1 1280 HP:0010049 Short metacarpal OMIM:215150 COL2A1 1280 HP:0000486 Strabismus OMIM:215150 COL2A1 1280 HP:0000944 Abnormality of the metaphyses OMIM:215150 COL2A1 1280 HP:0001629 Ventricular septal defect OMIM:215150 COL2A1 1280 HP:0003417 Coronal cleft vertebrae OMIM:215150 COL2A1 1280 HP:0003307 Hyperlordosis OMIM:215150 COL2A1 1280 HP:0001376 Limitation of joint mobility OMIM:215150 COL2A1 1280 HP:0000347 Micrognathia OMIM:215150 COL2A1 1280 HP:0006532 Recurrent pneumonia OMIM:215150 COL2A1 1280 HP:0004279 Short palm OMIM:215150 COL2A1 1280 HP:0003026 Short long bone OMIM:215150 COL2A1 1280 HP:0003037 Enlarged joints OMIM:215150 COL2A1 1280 HP:0003015 Flared metaphysis OMIM:215150 COL2A1 1280 HP:0000007 Autosomal recessive inheritance OMIM:215150 COL2A1 1280 HP:0000463 Anteverted nares OMIM:215150 COL2A1 1280 HP:0000407 Sensorineural hearing impairment OMIM:215150 COL2A1 1280 HP:0011800 Midface retrusion OMIM:215150 COL2A1 1280 HP:0002808 Kyphosis OMIM:215150 COL2A1 1280 HP:0010978 Abnormality of immune system physiology OMIM:215150 COL2A1 1280 HP:0000201 Pierre-Robin sequence OMIM:215150 COL2A1 1280 HP:0000175 Cleft palate OMIM:215150 COL2A1 1280 HP:0005003 Aplasia/Hypoplasia of the capital femoral epiphysis OMIM:215150 COL2A1 1280 HP:0000478 Abnormality of the eye OMIM:215150 COL2A1 1280 HP:0004679 Large tarsal bones OMIM:215150 COL2A1 1280 HP:0003088 Premature osteoarthritis OMIM:215150 COL2A1 1280 HP:0009803 Short phalanx of finger OMIM:215150 COL2A1 1280 HP:0002983 Micromelia OMIM:215150 COL2A1 1280 HP:0003421 Platyspondyly (childhood) OMIM:215150 COL2A1 1280 HP:0003312 Abnormal form of the vertebral bodies OMIM:215150 COL2A1 1280 HP:0002938 Lumbar hyperlordosis OMIM:215150 COL2A1 1280 HP:0010669 Cheekbone underdevelopment OMIM:215150 COL2A1 1280 HP:0006237 Prominent interphalangeal joints OMIM:215150 COL2A1 1280 HP:0000457 Depressed nasal ridge OMIM:215150 COL2A1 1280 HP:0004322 Short stature OMIM:215150 COL2A1 1280 HP:0000272 Malar flattening OMIM:215150 COL2A1 1280 HP:0001371 Flexion contracture OMIM:215150 COL2A1 1280 HP:0000414 Bulbous nose OMIM:215150 COL2A1 1280 HP:0002656 Epiphyseal dysplasia OMIM:215150 COL2A1 1280 HP:0000632 Lacrimation abnormality OMIM:215150 COL2A1 1280 HP:0000951 Abnormality of the skin OMIM:215150 COL2A1 1280 HP:0005048 Synostosis of carpal bones OMIM:215150 COL11A2 1302 HP:0000410 Mixed hearing impairment OMIM:215150 COL11A2 1302 HP:0002829 Arthralgia OMIM:215150 COL11A2 1302 HP:0010049 Short metacarpal OMIM:215150 COL11A2 1302 HP:0000486 Strabismus OMIM:215150 COL11A2 1302 HP:0000944 Abnormality of the metaphyses OMIM:215150 COL11A2 1302 HP:0001629 Ventricular septal defect OMIM:215150 COL11A2 1302 HP:0003417 Coronal cleft vertebrae OMIM:215150 COL11A2 1302 HP:0003307 Hyperlordosis OMIM:215150 COL11A2 1302 HP:0001376 Limitation of joint mobility OMIM:215150 COL11A2 1302 HP:0000347 Micrognathia OMIM:215150 COL11A2 1302 HP:0006532 Recurrent pneumonia OMIM:215150 COL11A2 1302 HP:0004279 Short palm OMIM:215150 COL11A2 1302 HP:0003026 Short long bone OMIM:215150 COL11A2 1302 HP:0003037 Enlarged joints OMIM:215150 COL11A2 1302 HP:0003015 Flared metaphysis OMIM:215150 COL11A2 1302 HP:0000007 Autosomal recessive inheritance OMIM:215150 COL11A2 1302 HP:0000463 Anteverted nares OMIM:215150 COL11A2 1302 HP:0000407 Sensorineural hearing impairment OMIM:215150 COL11A2 1302 HP:0011800 Midface retrusion OMIM:215150 COL11A2 1302 HP:0002808 Kyphosis OMIM:215150 COL11A2 1302 HP:0010978 Abnormality of immune system physiology OMIM:215150 COL11A2 1302 HP:0000201 Pierre-Robin sequence OMIM:215150 COL11A2 1302 HP:0000175 Cleft palate OMIM:215150 COL11A2 1302 HP:0005003 Aplasia/Hypoplasia of the capital femoral epiphysis OMIM:215150 COL11A2 1302 HP:0000478 Abnormality of the eye OMIM:215150 COL11A2 1302 HP:0004679 Large tarsal bones OMIM:215150 COL11A2 1302 HP:0003088 Premature osteoarthritis OMIM:215150 COL11A2 1302 HP:0009803 Short phalanx of finger OMIM:215150 COL11A2 1302 HP:0002983 Micromelia OMIM:215150 COL11A2 1302 HP:0003421 Platyspondyly (childhood) OMIM:215150 COL11A2 1302 HP:0003312 Abnormal form of the vertebral bodies OMIM:215150 COL11A2 1302 HP:0002938 Lumbar hyperlordosis OMIM:215150 COL11A2 1302 HP:0010669 Cheekbone underdevelopment OMIM:215150 COL11A2 1302 HP:0006237 Prominent interphalangeal joints OMIM:215150 COL11A2 1302 HP:0000457 Depressed nasal ridge OMIM:215150 COL11A2 1302 HP:0004322 Short stature OMIM:215150 COL11A2 1302 HP:0000272 Malar flattening OMIM:215150 COL11A2 1302 HP:0001371 Flexion contracture OMIM:215150 COL11A2 1302 HP:0000414 Bulbous nose OMIM:215150 COL11A2 1302 HP:0002656 Epiphyseal dysplasia OMIM:215150 COL11A2 1302 HP:0000632 Lacrimation abnormality OMIM:215150 COL11A2 1302 HP:0000951 Abnormality of the skin OMIM:215150 COL11A2 1302 HP:0005048 Synostosis of carpal bones OMIM:612463 GNAS 2778 HP:0001156 Brachydactyly syndrome OMIM:612463 GNAS 2778 HP:0000470 Short neck OMIM:612463 GNAS 2778 HP:0001513 Obesity OMIM:612463 GNAS 2778 HP:0003812 Phenotypic variability OMIM:612463 GNAS 2778 HP:0010743 Short metatarsal OMIM:612463 GNAS 2778 HP:0000293 Full cheeks OMIM:612463 GNAS 2778 HP:0000684 Delayed eruption of teeth OMIM:612463 GNAS 2778 HP:0000639 Nystagmus OMIM:612463 GNAS 2778 HP:0100543 Cognitive impairment OMIM:612463 GNAS 2778 HP:0004322 Short stature OMIM:612463 GNAS 2778 HP:0001249 Intellectual disability OMIM:612463 GNAS 2778 HP:0006297 Hypoplasia of dental enamel OMIM:612463 GNAS 2778 HP:0000311 Round face OMIM:612463 GNAS 2778 HP:0000852 Pseudohypoparathyroidism OMIM:612463 GNAS 2778 HP:0000939 Osteoporosis OMIM:612463 GNAS 2778 HP:0000518 Cataract OMIM:612463 GNAS 2778 HP:0010049 Short metacarpal OMIM:612463 GNAS 2778 HP:0005280 Depressed nasal bridge OMIM:612463 GNAS 2778 HP:0000006 Autosomal dominant inheritance OMIM:615325 DES 1674 HP:0003691 Scapular winging OMIM:615325 DES 1674 HP:0003676 Progressive disorder OMIM:615325 DES 1674 HP:0000007 Autosomal recessive inheritance OMIM:615325 DES 1674 HP:0002987 Elbow flexion contracture OMIM:615325 DES 1674 HP:0003560 Muscular dystrophy OMIM:615325 DES 1674 HP:0010628 Facial palsy OMIM:614674 HTR1A 3350 HP:0000006 Autosomal dominant inheritance OMIM:614674 HTR1A 3350 HP:0200067 Recurrent spontaneous abortion OMIM:601675 ERCC2 2068 HP:0001371 Flexion contracture OMIM:601675 ERCC2 2068 HP:0001019 Erythroderma OMIM:601675 ERCC2 2068 HP:0001518 Small for gestational age OMIM:601675 ERCC2 2068 HP:0007519 Lack of subcutaneous fatty tissue OMIM:601675 ERCC2 2068 HP:0002299 Brittle hair OMIM:601675 ERCC2 2068 HP:0000252 Microcephaly OMIM:601675 ERCC2 2068 HP:0000992 Cutaneous photosensitivity OMIM:601675 ERCC2 2068 HP:0004322 Short stature OMIM:601675 ERCC2 2068 HP:0000271 Abnormality of the face OMIM:601675 ERCC2 2068 HP:0000518 Cataract OMIM:601675 ERCC2 2068 HP:0005214 Intestinal obstruction OMIM:601675 ERCC2 2068 HP:0000007 Autosomal recessive inheritance OMIM:601675 ERCC2 2068 HP:0002099 Asthma OMIM:601675 ERCC2 2068 HP:0001808 Fragile nails OMIM:601675 ERCC2 2068 HP:0000135 Hypogonadism OMIM:601675 ERCC2 2068 HP:0007479 Congenital nonbullous ichthyosiform erythroderma OMIM:601675 ERCC2 2068 HP:0002719 Recurrent infections OMIM:601675 ERCC2 2068 HP:0000765 Abnormality of the thorax OMIM:601675 ERCC2 2068 HP:0004315 IgG deficiency OMIM:601675 ERCC2 2068 HP:0001249 Intellectual disability OMIM:300886 CLIC2 1193 HP:0001419 X-linked recessive inheritance OMIM:300886 CLIC2 1193 HP:0005781 Contractures of the large joints OMIM:300886 CLIC2 1193 HP:0001344 Absent speech OMIM:300886 CLIC2 1193 HP:0000053 Macroorchidism OMIM:300886 CLIC2 1193 HP:0000238 Hydrocephalus OMIM:300886 CLIC2 1193 HP:0004749 Atrial flutter OMIM:300886 CLIC2 1193 HP:0001250 Seizures OMIM:300886 CLIC2 1193 HP:0001635 Congestive heart failure OMIM:300886 CLIC2 1193 HP:0000400 Macrotia OMIM:300886 CLIC2 1193 HP:0001640 Cardiomegaly OMIM:300886 CLIC2 1193 HP:0001263 Global developmental delay OMIM:300886 CLIC2 1193 HP:0002751 Kyphoscoliosis OMIM:300886 CLIC2 1193 HP:0001257 Spasticity OMIM:300886 CLIC2 1193 HP:0002187 Intellectual disability, profound OMIM:300510 BMP15 9210 HP:0001587 Primary ovarian failure OMIM:300510 BMP15 9210 HP:0008639 Gonadal hypoplasia OMIM:300510 BMP15 9210 HP:0000130 Abnormality of the uterus OMIM:300510 BMP15 9210 HP:0000815 Hypergonadotropic hypogonadism OMIM:300510 BMP15 9210 HP:0008209 Premature ovarian failure OMIM:300510 BMP15 9210 HP:0001007 Hirsutism OMIM:300510 BMP15 9210 HP:0000786 Primary amenorrhea OMIM:615925 GHSR 2693 HP:0004322 Short stature OMIM:615925 GHSR 2693 HP:0008897 Postnatal growth retardation OMIM:615925 GHSR 2693 HP:0000007 Autosomal recessive inheritance OMIM:615925 GHSR 2693 HP:0000006 Autosomal dominant inheritance OMIM:615925 GHSR 2693 HP:0012506 Small pituitary gland OMIM:615925 GHSR 2693 HP:0002750 Delayed skeletal maturation OMIM:605431 MAPK8IP3 23162 HP:0000006 Autosomal dominant inheritance OMIM:605431 MAPK8IP3 23162 HP:0000505 Visual impairment OMIM:122200 TGFBI 7045 HP:0000529 Progressive visual loss OMIM:122200 TGFBI 7045 HP:0001149 Lattice corneal dystrophy OMIM:122200 TGFBI 7045 HP:0000495 Recurrent corneal erosions OMIM:122200 TGFBI 7045 HP:0000006 Autosomal dominant inheritance OMIM:194080 WT1 7490 HP:0000112 Nephropathy OMIM:194080 WT1 7490 HP:0001428 Somatic mutation OMIM:194080 WT1 7490 HP:0000097 Focal segmental glomerulosclerosis OMIM:194080 WT1 7490 HP:0000037 Male pseudohermaphroditism OMIM:194080 WT1 7490 HP:0000093 Proteinuria OMIM:194080 WT1 7490 HP:0000100 Nephrotic syndrome OMIM:194080 WT1 7490 HP:0000061 Ambiguous genitalia, female OMIM:194080 WT1 7490 HP:0000822 Hypertension OMIM:194080 WT1 7490 HP:0000149 Ovarian gonadoblastoma OMIM:194080 WT1 7490 HP:0000033 Ambiguous genitalia, male OMIM:194080 WT1 7490 HP:0000133 Gonadal dysgenesis OMIM:194080 WT1 7490 HP:0003774 Stage 5 chronic kidney disease OMIM:194080 WT1 7490 HP:0010459 True hermaphroditism OMIM:194080 WT1 7490 HP:0002667 Nephroblastoma (Wilms tumor) OMIM:194080 WT1 7490 HP:0001967 Diffuse mesangial sclerosis OMIM:194080 WT1 7490 HP:0000776 Congenital diaphragmatic hernia OMIM:194080 WT1 7490 HP:0000006 Autosomal dominant inheritance OMIM:194080 WT1 7490 HP:0003248 Gonadal tissue inappropriate for external genitalia or chromosomal sex OMIM:610536 EFTUD2 9343 HP:0008872 Feeding difficulties in infancy OMIM:610536 EFTUD2 9343 HP:0000252 Microcephaly OMIM:610536 EFTUD2 9343 HP:0000272 Malar flattening OMIM:610536 EFTUD2 9343 HP:0001238 Slender finger OMIM:610536 EFTUD2 9343 HP:0100543 Cognitive impairment OMIM:610536 EFTUD2 9343 HP:0000494 Downslanted palpebral fissures OMIM:610536 EFTUD2 9343 HP:0000243 Trigonocephaly OMIM:610536 EFTUD2 9343 HP:0000407 Sensorineural hearing impairment OMIM:610536 EFTUD2 9343 HP:0000463 Anteverted nares OMIM:610536 EFTUD2 9343 HP:0000396 Overfolded helix OMIM:610536 EFTUD2 9343 HP:0001631 Defect in the atrial septum OMIM:610536 EFTUD2 9343 HP:0000286 Epicanthus OMIM:610536 EFTUD2 9343 HP:0004322 Short stature OMIM:610536 EFTUD2 9343 HP:0000405 Conductive hearing impairment OMIM:610536 EFTUD2 9343 HP:0000368 Low-set, posteriorly rotated ears OMIM:610536 EFTUD2 9343 HP:0009623 Proximal placement of thumb OMIM:610536 EFTUD2 9343 HP:0000175 Cleft palate OMIM:610536 EFTUD2 9343 HP:0009912 Abnormality of the tragus OMIM:610536 EFTUD2 9343 HP:0000384 Preauricular skin tag OMIM:610536 EFTUD2 9343 HP:0000211 Trismus OMIM:610536 EFTUD2 9343 HP:0000453 Choanal atresia OMIM:610536 EFTUD2 9343 HP:0000750 Delayed speech and language development OMIM:610536 EFTUD2 9343 HP:0000007 Autosomal recessive inheritance OMIM:610536 EFTUD2 9343 HP:0002002 Deep philtrum OMIM:610536 EFTUD2 9343 HP:0000006 Autosomal dominant inheritance OMIM:610536 EFTUD2 9343 HP:0003196 Short nose OMIM:610536 EFTUD2 9343 HP:0001263 Global developmental delay OMIM:610536 EFTUD2 9343 HP:0000506 Telecanthus OMIM:610536 EFTUD2 9343 HP:0002032 Esophageal atresia OMIM:610536 EFTUD2 9343 HP:0000369 Low-set ears OMIM:610536 EFTUD2 9343 HP:0000347 Micrognathia OMIM:610536 EFTUD2 9343 HP:0001629 Ventricular septal defect OMIM:610536 EFTUD2 9343 HP:0009738 Abnormality of the antihelix OMIM:610536 EFTUD2 9343 HP:0001250 Seizures OMIM:610536 EFTUD2 9343 HP:0000413 Atresia of the external auditory canal OMIM:610536 EFTUD2 9343 HP:0001177 Preaxial hand polydactyly OMIM:610536 EFTUD2 9343 HP:0009748 Large earlobe OMIM:610536 EFTUD2 9343 HP:0000582 Upslanted palpebral fissure OMIM:610536 EFTUD2 9343 HP:0002880 Respiratory difficulties OMIM:610536 EFTUD2 9343 HP:0008551 Microtia OMIM:610536 EFTUD2 9343 HP:0011800 Midface retrusion OMIM:610536 EFTUD2 9343 HP:0002167 Neurological speech impairment OMIM:610536 EFTUD2 9343 HP:0005321 Mandibulofacial dysostosis OMIM:615381 POLD1 5424 HP:0000160 Narrow mouth OMIM:615381 POLD1 5424 HP:0002155 Hypertriglyceridemia OMIM:615381 POLD1 5424 HP:0001397 Hepatic steatosis OMIM:615381 POLD1 5424 HP:0009125 Lipodystrophy OMIM:615381 POLD1 5424 HP:0002240 Hepatomegaly OMIM:615381 POLD1 5424 HP:0002910 Elevated hepatic transaminases OMIM:615381 POLD1 5424 HP:0000407 Sensorineural hearing impairment OMIM:615381 POLD1 5424 HP:0000028 Cryptorchidism OMIM:615381 POLD1 5424 HP:0000135 Hypogonadism OMIM:615381 POLD1 5424 HP:0001620 High pitched voice OMIM:615381 POLD1 5424 HP:0001009 Telangiectasia OMIM:615381 POLD1 5424 HP:0100679 Lack of skin elasticity OMIM:615381 POLD1 5424 HP:0000006 Autosomal dominant inheritance OMIM:615381 POLD1 5424 HP:0000444 Convex nasal ridge OMIM:615381 POLD1 5424 HP:0002808 Kyphosis OMIM:615381 POLD1 5424 HP:0001371 Flexion contracture OMIM:615381 POLD1 5424 HP:0000678 Dental crowding OMIM:615381 POLD1 5424 HP:0000347 Micrognathia OMIM:615381 POLD1 5424 HP:0000520 Proptosis OMIM:615381 POLD1 5424 HP:0004334 Dermal atrophy OMIM:615381 POLD1 5424 HP:0002650 Scoliosis OMIM:615381 POLD1 5424 HP:0000819 Diabetes mellitus OMIM:615381 POLD1 5424 HP:0000855 Insulin resistance OMIM:615381 POLD1 5424 HP:0000939 Osteoporosis OMIM:616100 CTLA4 1493 HP:0001890 Autoimmune hemolytic anemia OMIM:616100 CTLA4 1493 HP:0003765 Psoriasis OMIM:616100 CTLA4 1493 HP:0001973 Autoimmune thrombocytopenia OMIM:616100 CTLA4 1493 HP:0002240 Hepatomegaly OMIM:616100 CTLA4 1493 HP:0001744 Splenomegaly OMIM:616100 CTLA4 1493 HP:0002716 Lymphadenopathy OMIM:616100 CTLA4 1493 HP:0004313 Hypogammaglobulinemia OMIM:616100 CTLA4 1493 HP:0002014 Diarrhea OMIM:616100 CTLA4 1493 HP:0000964 Eczema OMIM:616100 CTLA4 1493 HP:0002788 Recurrent upper respiratory tract infections OMIM:615010 ADAR 103 HP:0001263 Global developmental delay OMIM:615010 ADAR 103 HP:0002514 Cerebral calcification OMIM:615010 ADAR 103 HP:0002371 Loss of speech OMIM:615010 ADAR 103 HP:0002376 Developmental regression OMIM:615010 ADAR 103 HP:0002063 Rigidity OMIM:615010 ADAR 103 HP:0001337 Tremor OMIM:615010 ADAR 103 HP:0000007 Autosomal recessive inheritance OMIM:615010 ADAR 103 HP:0000252 Microcephaly OMIM:615010 ADAR 103 HP:0002415 Leukodystrophy OMIM:615010 ADAR 103 HP:0000639 Nystagmus OMIM:615010 ADAR 103 HP:0001878 Hemolytic anemia OMIM:615010 ADAR 103 HP:0006957 Loss of ability to walk OMIM:612997 CATSPER1 117144 HP:0003251 Male infertility OMIM:612997 CATSPER1 117144 HP:0012208 Nonmotile sperm OMIM:612997 CATSPER1 117144 HP:0012207 Reduced sperm motility OMIM:612997 CATSPER1 117144 HP:0000798 Oligospermia OMIM:612997 CATSPER1 117144 HP:0000007 Autosomal recessive inheritance OMIM:613329 SERPINE1 5054 HP:0003577 Congenital onset OMIM:613329 SERPINE1 5054 HP:0000132 Menorrhagia OMIM:613329 SERPINE1 5054 HP:0000007 Autosomal recessive inheritance OMIM:613329 SERPINE1 5054 HP:0000006 Autosomal dominant inheritance OMIM:256000 NDUFS7 374291 HP:0007305 CNS demyelination OMIM:256000 NDUFS7 374291 HP:0001249 Intellectual disability OMIM:256000 NDUFS7 374291 HP:0001260 Dysarthria OMIM:256000 NDUFS7 374291 HP:0000007 Autosomal recessive inheritance OMIM:256000 NDUFS7 374291 HP:0001425 Heterogeneous OMIM:256000 NDUFS7 374291 HP:0003128 Lactic acidosis OMIM:256000 NDUFS7 374291 HP:0000639 Nystagmus OMIM:256000 NDUFS7 374291 HP:0002793 Abnormal pattern of respiration OMIM:256000 NDUFS7 374291 HP:0003676 Progressive disorder OMIM:256000 NDUFS7 374291 HP:0001404 Hepatocellular necrosis OMIM:256000 NDUFS7 374291 HP:0001427 Mitochondrial inheritance OMIM:256000 NDUFS7 374291 HP:0002490 Increased CSF lactate OMIM:256000 NDUFS7 374291 HP:0001347 Hyperreflexia OMIM:256000 NDUFS7 374291 HP:0002878 Respiratory failure OMIM:256000 NDUFS7 374291 HP:0002171 Gliosis OMIM:256000 NDUFS7 374291 HP:0001251 Ataxia OMIM:256000 NDUFS7 374291 HP:0001252 Muscular hypotonia OMIM:256000 NDUFS7 374291 HP:0001332 Dystonia OMIM:256000 NDUFS7 374291 HP:0000712 Emotional lability OMIM:256000 NDUFS7 374291 HP:0002151 Increased serum lactate OMIM:256000 NDUFS7 374291 HP:0001263 Global developmental delay OMIM:256000 NDUFS7 374291 HP:0000998 Hypertrichosis OMIM:256000 NDUFS7 374291 HP:0003593 Infantile onset OMIM:256000 NDUFS7 374291 HP:0001508 Failure to thrive OMIM:256000 NDUFS7 374291 HP:0000580 Pigmentary retinopathy OMIM:256000 NDUFS7 374291 HP:0000602 Ophthalmoplegia OMIM:256000 NDUFS7 374291 HP:0003812 Phenotypic variability OMIM:256000 NDUFS7 374291 HP:0001250 Seizures OMIM:256000 NDUFS7 374291 HP:0000648 Optic atrophy OMIM:256000 NDUFS7 374291 HP:0000407 Sensorineural hearing impairment OMIM:256000 NDUFS7 374291 HP:0001257 Spasticity OMIM:256000 NDUFA10 4705 HP:0007305 CNS demyelination OMIM:256000 NDUFA10 4705 HP:0001249 Intellectual disability OMIM:256000 NDUFA10 4705 HP:0001260 Dysarthria OMIM:256000 NDUFA10 4705 HP:0000007 Autosomal recessive inheritance OMIM:256000 NDUFA10 4705 HP:0001425 Heterogeneous OMIM:256000 NDUFA10 4705 HP:0003128 Lactic acidosis OMIM:256000 NDUFA10 4705 HP:0000639 Nystagmus OMIM:256000 NDUFA10 4705 HP:0002793 Abnormal pattern of respiration OMIM:256000 NDUFA10 4705 HP:0003676 Progressive disorder OMIM:256000 NDUFA10 4705 HP:0001404 Hepatocellular necrosis OMIM:256000 NDUFA10 4705 HP:0001427 Mitochondrial inheritance OMIM:256000 NDUFA10 4705 HP:0002490 Increased CSF lactate OMIM:256000 NDUFA10 4705 HP:0001347 Hyperreflexia OMIM:256000 NDUFA10 4705 HP:0002878 Respiratory failure OMIM:256000 NDUFA10 4705 HP:0002171 Gliosis OMIM:256000 NDUFA10 4705 HP:0001251 Ataxia OMIM:256000 NDUFA10 4705 HP:0001252 Muscular hypotonia OMIM:256000 NDUFA10 4705 HP:0001332 Dystonia OMIM:256000 NDUFA10 4705 HP:0000712 Emotional lability OMIM:256000 NDUFA10 4705 HP:0002151 Increased serum lactate OMIM:256000 NDUFA10 4705 HP:0001263 Global developmental delay OMIM:256000 NDUFA10 4705 HP:0000998 Hypertrichosis OMIM:256000 NDUFA10 4705 HP:0003593 Infantile onset OMIM:256000 NDUFA10 4705 HP:0001508 Failure to thrive OMIM:256000 NDUFA10 4705 HP:0000580 Pigmentary retinopathy OMIM:256000 NDUFA10 4705 HP:0000602 Ophthalmoplegia OMIM:256000 NDUFA10 4705 HP:0003812 Phenotypic variability OMIM:256000 NDUFA10 4705 HP:0001250 Seizures OMIM:256000 NDUFA10 4705 HP:0000648 Optic atrophy OMIM:256000 NDUFA10 4705 HP:0000407 Sensorineural hearing impairment OMIM:256000 NDUFA10 4705 HP:0001257 Spasticity OMIM:256000 NDUFA9 4704 HP:0007305 CNS demyelination OMIM:256000 NDUFA9 4704 HP:0001249 Intellectual disability OMIM:256000 NDUFA9 4704 HP:0001260 Dysarthria OMIM:256000 NDUFA9 4704 HP:0000007 Autosomal recessive inheritance OMIM:256000 NDUFA9 4704 HP:0001425 Heterogeneous OMIM:256000 NDUFA9 4704 HP:0003128 Lactic acidosis OMIM:256000 NDUFA9 4704 HP:0000639 Nystagmus OMIM:256000 NDUFA9 4704 HP:0002793 Abnormal pattern of respiration OMIM:256000 NDUFA9 4704 HP:0003676 Progressive disorder OMIM:256000 NDUFA9 4704 HP:0001404 Hepatocellular necrosis OMIM:256000 NDUFA9 4704 HP:0001427 Mitochondrial inheritance OMIM:256000 NDUFA9 4704 HP:0002490 Increased CSF lactate OMIM:256000 NDUFA9 4704 HP:0001347 Hyperreflexia OMIM:256000 NDUFA9 4704 HP:0002878 Respiratory failure OMIM:256000 NDUFA9 4704 HP:0002171 Gliosis OMIM:256000 NDUFA9 4704 HP:0001251 Ataxia OMIM:256000 NDUFA9 4704 HP:0001252 Muscular hypotonia OMIM:256000 NDUFA9 4704 HP:0001332 Dystonia OMIM:256000 NDUFA9 4704 HP:0000712 Emotional lability OMIM:256000 NDUFA9 4704 HP:0002151 Increased serum lactate OMIM:256000 NDUFA9 4704 HP:0001263 Global developmental delay OMIM:256000 NDUFA9 4704 HP:0000998 Hypertrichosis OMIM:256000 NDUFA9 4704 HP:0003593 Infantile onset OMIM:256000 NDUFA9 4704 HP:0001508 Failure to thrive OMIM:256000 NDUFA9 4704 HP:0000580 Pigmentary retinopathy OMIM:256000 NDUFA9 4704 HP:0000602 Ophthalmoplegia OMIM:256000 NDUFA9 4704 HP:0003812 Phenotypic variability OMIM:256000 NDUFA9 4704 HP:0001250 Seizures OMIM:256000 NDUFA9 4704 HP:0000648 Optic atrophy OMIM:256000 NDUFA9 4704 HP:0000407 Sensorineural hearing impairment OMIM:256000 NDUFA9 4704 HP:0001257 Spasticity OMIM:256000 SDHA 6389 HP:0007305 CNS demyelination OMIM:256000 SDHA 6389 HP:0001249 Intellectual disability OMIM:256000 SDHA 6389 HP:0001260 Dysarthria OMIM:256000 SDHA 6389 HP:0000007 Autosomal recessive inheritance OMIM:256000 SDHA 6389 HP:0001425 Heterogeneous OMIM:256000 SDHA 6389 HP:0003128 Lactic acidosis OMIM:256000 SDHA 6389 HP:0000639 Nystagmus OMIM:256000 SDHA 6389 HP:0002793 Abnormal pattern of respiration OMIM:256000 SDHA 6389 HP:0003676 Progressive disorder OMIM:256000 SDHA 6389 HP:0001404 Hepatocellular necrosis OMIM:256000 SDHA 6389 HP:0001427 Mitochondrial inheritance OMIM:256000 SDHA 6389 HP:0002490 Increased CSF lactate OMIM:256000 SDHA 6389 HP:0001347 Hyperreflexia OMIM:256000 SDHA 6389 HP:0002878 Respiratory failure OMIM:256000 SDHA 6389 HP:0002171 Gliosis OMIM:256000 SDHA 6389 HP:0001251 Ataxia OMIM:256000 SDHA 6389 HP:0001252 Muscular hypotonia OMIM:256000 SDHA 6389 HP:0001332 Dystonia OMIM:256000 SDHA 6389 HP:0000712 Emotional lability OMIM:256000 SDHA 6389 HP:0002151 Increased serum lactate OMIM:256000 SDHA 6389 HP:0001263 Global developmental delay OMIM:256000 SDHA 6389 HP:0000998 Hypertrichosis OMIM:256000 SDHA 6389 HP:0003593 Infantile onset OMIM:256000 SDHA 6389 HP:0001508 Failure to thrive OMIM:256000 SDHA 6389 HP:0000580 Pigmentary retinopathy OMIM:256000 SDHA 6389 HP:0000602 Ophthalmoplegia OMIM:256000 SDHA 6389 HP:0003812 Phenotypic variability OMIM:256000 SDHA 6389 HP:0001250 Seizures OMIM:256000 SDHA 6389 HP:0000648 Optic atrophy OMIM:256000 SDHA 6389 HP:0000407 Sensorineural hearing impairment OMIM:256000 SDHA 6389 HP:0001257 Spasticity OMIM:256000 BCS1L 617 HP:0007305 CNS demyelination OMIM:256000 BCS1L 617 HP:0001249 Intellectual disability OMIM:256000 BCS1L 617 HP:0001260 Dysarthria OMIM:256000 BCS1L 617 HP:0000007 Autosomal recessive inheritance OMIM:256000 BCS1L 617 HP:0001425 Heterogeneous OMIM:256000 BCS1L 617 HP:0003128 Lactic acidosis OMIM:256000 BCS1L 617 HP:0000639 Nystagmus OMIM:256000 BCS1L 617 HP:0002793 Abnormal pattern of respiration OMIM:256000 BCS1L 617 HP:0003676 Progressive disorder OMIM:256000 BCS1L 617 HP:0001404 Hepatocellular necrosis OMIM:256000 BCS1L 617 HP:0001427 Mitochondrial inheritance OMIM:256000 BCS1L 617 HP:0002490 Increased CSF lactate OMIM:256000 BCS1L 617 HP:0001347 Hyperreflexia OMIM:256000 BCS1L 617 HP:0002878 Respiratory failure OMIM:256000 BCS1L 617 HP:0002171 Gliosis OMIM:256000 BCS1L 617 HP:0001251 Ataxia OMIM:256000 BCS1L 617 HP:0001252 Muscular hypotonia OMIM:256000 BCS1L 617 HP:0001332 Dystonia OMIM:256000 BCS1L 617 HP:0000712 Emotional lability OMIM:256000 BCS1L 617 HP:0002151 Increased serum lactate OMIM:256000 BCS1L 617 HP:0001263 Global developmental delay OMIM:256000 BCS1L 617 HP:0000998 Hypertrichosis OMIM:256000 BCS1L 617 HP:0003593 Infantile onset OMIM:256000 BCS1L 617 HP:0001508 Failure to thrive OMIM:256000 BCS1L 617 HP:0000580 Pigmentary retinopathy OMIM:256000 BCS1L 617 HP:0000602 Ophthalmoplegia OMIM:256000 BCS1L 617 HP:0003812 Phenotypic variability OMIM:256000 BCS1L 617 HP:0001250 Seizures OMIM:256000 BCS1L 617 HP:0000648 Optic atrophy OMIM:256000 BCS1L 617 HP:0000407 Sensorineural hearing impairment OMIM:256000 BCS1L 617 HP:0001257 Spasticity OMIM:256000 NDUFAF2 91942 HP:0007305 CNS demyelination OMIM:256000 NDUFAF2 91942 HP:0001249 Intellectual disability OMIM:256000 NDUFAF2 91942 HP:0001260 Dysarthria OMIM:256000 NDUFAF2 91942 HP:0000007 Autosomal recessive inheritance OMIM:256000 NDUFAF2 91942 HP:0001425 Heterogeneous OMIM:256000 NDUFAF2 91942 HP:0003128 Lactic acidosis OMIM:256000 NDUFAF2 91942 HP:0000639 Nystagmus OMIM:256000 NDUFAF2 91942 HP:0002793 Abnormal pattern of respiration OMIM:256000 NDUFAF2 91942 HP:0003676 Progressive disorder OMIM:256000 NDUFAF2 91942 HP:0001404 Hepatocellular necrosis OMIM:256000 NDUFAF2 91942 HP:0001427 Mitochondrial inheritance OMIM:256000 NDUFAF2 91942 HP:0002490 Increased CSF lactate OMIM:256000 NDUFAF2 91942 HP:0001347 Hyperreflexia OMIM:256000 NDUFAF2 91942 HP:0002878 Respiratory failure OMIM:256000 NDUFAF2 91942 HP:0002171 Gliosis OMIM:256000 NDUFAF2 91942 HP:0001251 Ataxia OMIM:256000 NDUFAF2 91942 HP:0001252 Muscular hypotonia OMIM:256000 NDUFAF2 91942 HP:0001332 Dystonia OMIM:256000 NDUFAF2 91942 HP:0000712 Emotional lability OMIM:256000 NDUFAF2 91942 HP:0002151 Increased serum lactate OMIM:256000 NDUFAF2 91942 HP:0001263 Global developmental delay OMIM:256000 NDUFAF2 91942 HP:0000998 Hypertrichosis OMIM:256000 NDUFAF2 91942 HP:0003593 Infantile onset OMIM:256000 NDUFAF2 91942 HP:0001508 Failure to thrive OMIM:256000 NDUFAF2 91942 HP:0000580 Pigmentary retinopathy OMIM:256000 NDUFAF2 91942 HP:0000602 Ophthalmoplegia OMIM:256000 NDUFAF2 91942 HP:0003812 Phenotypic variability OMIM:256000 NDUFAF2 91942 HP:0001250 Seizures OMIM:256000 NDUFAF2 91942 HP:0000648 Optic atrophy OMIM:256000 NDUFAF2 91942 HP:0000407 Sensorineural hearing impairment OMIM:256000 NDUFAF2 91942 HP:0001257 Spasticity OMIM:256000 SURF1 6834 HP:0007305 CNS demyelination OMIM:256000 SURF1 6834 HP:0001249 Intellectual disability OMIM:256000 SURF1 6834 HP:0001260 Dysarthria OMIM:256000 SURF1 6834 HP:0000007 Autosomal recessive inheritance OMIM:256000 SURF1 6834 HP:0001425 Heterogeneous OMIM:256000 SURF1 6834 HP:0003128 Lactic acidosis OMIM:256000 SURF1 6834 HP:0000639 Nystagmus OMIM:256000 SURF1 6834 HP:0002793 Abnormal pattern of respiration OMIM:256000 SURF1 6834 HP:0003676 Progressive disorder OMIM:256000 SURF1 6834 HP:0001404 Hepatocellular necrosis OMIM:256000 SURF1 6834 HP:0001427 Mitochondrial inheritance OMIM:256000 SURF1 6834 HP:0002490 Increased CSF lactate OMIM:256000 SURF1 6834 HP:0001347 Hyperreflexia OMIM:256000 SURF1 6834 HP:0002878 Respiratory failure OMIM:256000 SURF1 6834 HP:0002171 Gliosis OMIM:256000 SURF1 6834 HP:0001251 Ataxia OMIM:256000 SURF1 6834 HP:0001252 Muscular hypotonia OMIM:256000 SURF1 6834 HP:0001332 Dystonia OMIM:256000 SURF1 6834 HP:0000712 Emotional lability OMIM:256000 SURF1 6834 HP:0002151 Increased serum lactate OMIM:256000 SURF1 6834 HP:0001263 Global developmental delay OMIM:256000 SURF1 6834 HP:0000998 Hypertrichosis OMIM:256000 SURF1 6834 HP:0003593 Infantile onset OMIM:256000 SURF1 6834 HP:0001508 Failure to thrive OMIM:256000 SURF1 6834 HP:0000580 Pigmentary retinopathy OMIM:256000 SURF1 6834 HP:0000602 Ophthalmoplegia OMIM:256000 SURF1 6834 HP:0003812 Phenotypic variability OMIM:256000 SURF1 6834 HP:0001250 Seizures OMIM:256000 SURF1 6834 HP:0000648 Optic atrophy OMIM:256000 SURF1 6834 HP:0000407 Sensorineural hearing impairment OMIM:256000 SURF1 6834 HP:0001257 Spasticity OMIM:256000 NDUFA12 55967 HP:0007305 CNS demyelination OMIM:256000 NDUFA12 55967 HP:0001249 Intellectual disability OMIM:256000 NDUFA12 55967 HP:0001260 Dysarthria OMIM:256000 NDUFA12 55967 HP:0000007 Autosomal recessive inheritance OMIM:256000 NDUFA12 55967 HP:0001425 Heterogeneous OMIM:256000 NDUFA12 55967 HP:0003128 Lactic acidosis OMIM:256000 NDUFA12 55967 HP:0000639 Nystagmus OMIM:256000 NDUFA12 55967 HP:0002793 Abnormal pattern of respiration OMIM:256000 NDUFA12 55967 HP:0003676 Progressive disorder OMIM:256000 NDUFA12 55967 HP:0001404 Hepatocellular necrosis OMIM:256000 NDUFA12 55967 HP:0001427 Mitochondrial inheritance OMIM:256000 NDUFA12 55967 HP:0002490 Increased CSF lactate OMIM:256000 NDUFA12 55967 HP:0001347 Hyperreflexia OMIM:256000 NDUFA12 55967 HP:0002878 Respiratory failure OMIM:256000 NDUFA12 55967 HP:0002171 Gliosis OMIM:256000 NDUFA12 55967 HP:0001251 Ataxia OMIM:256000 NDUFA12 55967 HP:0001252 Muscular hypotonia OMIM:256000 NDUFA12 55967 HP:0001332 Dystonia OMIM:256000 NDUFA12 55967 HP:0000712 Emotional lability OMIM:256000 NDUFA12 55967 HP:0002151 Increased serum lactate OMIM:256000 NDUFA12 55967 HP:0001263 Global developmental delay OMIM:256000 NDUFA12 55967 HP:0000998 Hypertrichosis OMIM:256000 NDUFA12 55967 HP:0003593 Infantile onset OMIM:256000 NDUFA12 55967 HP:0001508 Failure to thrive OMIM:256000 NDUFA12 55967 HP:0000580 Pigmentary retinopathy OMIM:256000 NDUFA12 55967 HP:0000602 Ophthalmoplegia OMIM:256000 NDUFA12 55967 HP:0003812 Phenotypic variability OMIM:256000 NDUFA12 55967 HP:0001250 Seizures OMIM:256000 NDUFA12 55967 HP:0000648 Optic atrophy OMIM:256000 NDUFA12 55967 HP:0000407 Sensorineural hearing impairment OMIM:256000 NDUFA12 55967 HP:0001257 Spasticity OMIM:256000 NDUFS3 4722 HP:0007305 CNS demyelination OMIM:256000 NDUFS3 4722 HP:0001249 Intellectual disability OMIM:256000 NDUFS3 4722 HP:0001260 Dysarthria OMIM:256000 NDUFS3 4722 HP:0000007 Autosomal recessive inheritance OMIM:256000 NDUFS3 4722 HP:0001425 Heterogeneous OMIM:256000 NDUFS3 4722 HP:0003128 Lactic acidosis OMIM:256000 NDUFS3 4722 HP:0000639 Nystagmus OMIM:256000 NDUFS3 4722 HP:0002793 Abnormal pattern of respiration OMIM:256000 NDUFS3 4722 HP:0003676 Progressive disorder OMIM:256000 NDUFS3 4722 HP:0001404 Hepatocellular necrosis OMIM:256000 NDUFS3 4722 HP:0001427 Mitochondrial inheritance OMIM:256000 NDUFS3 4722 HP:0002490 Increased CSF lactate OMIM:256000 NDUFS3 4722 HP:0001347 Hyperreflexia OMIM:256000 NDUFS3 4722 HP:0002878 Respiratory failure OMIM:256000 NDUFS3 4722 HP:0002171 Gliosis OMIM:256000 NDUFS3 4722 HP:0001251 Ataxia OMIM:256000 NDUFS3 4722 HP:0001252 Muscular hypotonia OMIM:256000 NDUFS3 4722 HP:0001332 Dystonia OMIM:256000 NDUFS3 4722 HP:0000712 Emotional lability OMIM:256000 NDUFS3 4722 HP:0002151 Increased serum lactate OMIM:256000 NDUFS3 4722 HP:0001263 Global developmental delay OMIM:256000 NDUFS3 4722 HP:0000998 Hypertrichosis OMIM:256000 NDUFS3 4722 HP:0003593 Infantile onset OMIM:256000 NDUFS3 4722 HP:0001508 Failure to thrive OMIM:256000 NDUFS3 4722 HP:0000580 Pigmentary retinopathy OMIM:256000 NDUFS3 4722 HP:0000602 Ophthalmoplegia OMIM:256000 NDUFS3 4722 HP:0003812 Phenotypic variability OMIM:256000 NDUFS3 4722 HP:0001250 Seizures OMIM:256000 NDUFS3 4722 HP:0000648 Optic atrophy OMIM:256000 NDUFS3 4722 HP:0000407 Sensorineural hearing impairment OMIM:256000 NDUFS3 4722 HP:0001257 Spasticity OMIM:256000 COX15 1355 HP:0007305 CNS demyelination OMIM:256000 COX15 1355 HP:0001249 Intellectual disability OMIM:256000 COX15 1355 HP:0001260 Dysarthria OMIM:256000 COX15 1355 HP:0000007 Autosomal recessive inheritance OMIM:256000 COX15 1355 HP:0001425 Heterogeneous OMIM:256000 COX15 1355 HP:0003128 Lactic acidosis OMIM:256000 COX15 1355 HP:0000639 Nystagmus OMIM:256000 COX15 1355 HP:0002793 Abnormal pattern of respiration OMIM:256000 COX15 1355 HP:0003676 Progressive disorder OMIM:256000 COX15 1355 HP:0001404 Hepatocellular necrosis OMIM:256000 COX15 1355 HP:0001427 Mitochondrial inheritance OMIM:256000 COX15 1355 HP:0002490 Increased CSF lactate OMIM:256000 COX15 1355 HP:0001347 Hyperreflexia OMIM:256000 COX15 1355 HP:0002878 Respiratory failure OMIM:256000 COX15 1355 HP:0002171 Gliosis OMIM:256000 COX15 1355 HP:0001251 Ataxia OMIM:256000 COX15 1355 HP:0001252 Muscular hypotonia OMIM:256000 COX15 1355 HP:0001332 Dystonia OMIM:256000 COX15 1355 HP:0000712 Emotional lability OMIM:256000 COX15 1355 HP:0002151 Increased serum lactate OMIM:256000 COX15 1355 HP:0001263 Global developmental delay OMIM:256000 COX15 1355 HP:0000998 Hypertrichosis OMIM:256000 COX15 1355 HP:0003593 Infantile onset OMIM:256000 COX15 1355 HP:0001508 Failure to thrive OMIM:256000 COX15 1355 HP:0000580 Pigmentary retinopathy OMIM:256000 COX15 1355 HP:0000602 Ophthalmoplegia OMIM:256000 COX15 1355 HP:0003812 Phenotypic variability OMIM:256000 COX15 1355 HP:0001250 Seizures OMIM:256000 COX15 1355 HP:0000648 Optic atrophy OMIM:256000 COX15 1355 HP:0000407 Sensorineural hearing impairment OMIM:256000 COX15 1355 HP:0001257 Spasticity OMIM:256000 COX10 1352 HP:0007305 CNS demyelination OMIM:256000 COX10 1352 HP:0001249 Intellectual disability OMIM:256000 COX10 1352 HP:0001260 Dysarthria OMIM:256000 COX10 1352 HP:0000007 Autosomal recessive inheritance OMIM:256000 COX10 1352 HP:0001425 Heterogeneous OMIM:256000 COX10 1352 HP:0003128 Lactic acidosis OMIM:256000 COX10 1352 HP:0000639 Nystagmus OMIM:256000 COX10 1352 HP:0002793 Abnormal pattern of respiration OMIM:256000 COX10 1352 HP:0003676 Progressive disorder OMIM:256000 COX10 1352 HP:0001404 Hepatocellular necrosis OMIM:256000 COX10 1352 HP:0001427 Mitochondrial inheritance OMIM:256000 COX10 1352 HP:0002490 Increased CSF lactate OMIM:256000 COX10 1352 HP:0001347 Hyperreflexia OMIM:256000 COX10 1352 HP:0002878 Respiratory failure OMIM:256000 COX10 1352 HP:0002171 Gliosis OMIM:256000 COX10 1352 HP:0001251 Ataxia OMIM:256000 COX10 1352 HP:0001252 Muscular hypotonia OMIM:256000 COX10 1352 HP:0001332 Dystonia OMIM:256000 COX10 1352 HP:0000712 Emotional lability OMIM:256000 COX10 1352 HP:0002151 Increased serum lactate OMIM:256000 COX10 1352 HP:0001263 Global developmental delay OMIM:256000 COX10 1352 HP:0000998 Hypertrichosis OMIM:256000 COX10 1352 HP:0003593 Infantile onset OMIM:256000 COX10 1352 HP:0001508 Failure to thrive OMIM:256000 COX10 1352 HP:0000580 Pigmentary retinopathy OMIM:256000 COX10 1352 HP:0000602 Ophthalmoplegia OMIM:256000 COX10 1352 HP:0003812 Phenotypic variability OMIM:256000 COX10 1352 HP:0001250 Seizures OMIM:256000 COX10 1352 HP:0000648 Optic atrophy OMIM:256000 COX10 1352 HP:0000407 Sensorineural hearing impairment OMIM:256000 COX10 1352 HP:0001257 Spasticity OMIM:256000 NDUFS4 4724 HP:0007305 CNS demyelination OMIM:256000 NDUFS4 4724 HP:0001249 Intellectual disability OMIM:256000 NDUFS4 4724 HP:0001260 Dysarthria OMIM:256000 NDUFS4 4724 HP:0000007 Autosomal recessive inheritance OMIM:256000 NDUFS4 4724 HP:0001425 Heterogeneous OMIM:256000 NDUFS4 4724 HP:0003128 Lactic acidosis OMIM:256000 NDUFS4 4724 HP:0000639 Nystagmus OMIM:256000 NDUFS4 4724 HP:0002793 Abnormal pattern of respiration OMIM:256000 NDUFS4 4724 HP:0003676 Progressive disorder OMIM:256000 NDUFS4 4724 HP:0001404 Hepatocellular necrosis OMIM:256000 NDUFS4 4724 HP:0001427 Mitochondrial inheritance OMIM:256000 NDUFS4 4724 HP:0002490 Increased CSF lactate OMIM:256000 NDUFS4 4724 HP:0001347 Hyperreflexia OMIM:256000 NDUFS4 4724 HP:0002878 Respiratory failure OMIM:256000 NDUFS4 4724 HP:0002171 Gliosis OMIM:256000 NDUFS4 4724 HP:0001251 Ataxia OMIM:256000 NDUFS4 4724 HP:0001252 Muscular hypotonia OMIM:256000 NDUFS4 4724 HP:0001332 Dystonia OMIM:256000 NDUFS4 4724 HP:0000712 Emotional lability OMIM:256000 NDUFS4 4724 HP:0002151 Increased serum lactate OMIM:256000 NDUFS4 4724 HP:0001263 Global developmental delay OMIM:256000 NDUFS4 4724 HP:0000998 Hypertrichosis OMIM:256000 NDUFS4 4724 HP:0003593 Infantile onset OMIM:256000 NDUFS4 4724 HP:0001508 Failure to thrive OMIM:256000 NDUFS4 4724 HP:0000580 Pigmentary retinopathy OMIM:256000 NDUFS4 4724 HP:0000602 Ophthalmoplegia OMIM:256000 NDUFS4 4724 HP:0003812 Phenotypic variability OMIM:256000 NDUFS4 4724 HP:0001250 Seizures OMIM:256000 NDUFS4 4724 HP:0000648 Optic atrophy OMIM:256000 NDUFS4 4724 HP:0000407 Sensorineural hearing impairment OMIM:256000 NDUFS4 4724 HP:0001257 Spasticity OMIM:256000 NDUFA2 4695 HP:0007305 CNS demyelination OMIM:256000 NDUFA2 4695 HP:0001249 Intellectual disability OMIM:256000 NDUFA2 4695 HP:0001260 Dysarthria OMIM:256000 NDUFA2 4695 HP:0000007 Autosomal recessive inheritance OMIM:256000 NDUFA2 4695 HP:0001425 Heterogeneous OMIM:256000 NDUFA2 4695 HP:0003128 Lactic acidosis OMIM:256000 NDUFA2 4695 HP:0000639 Nystagmus OMIM:256000 NDUFA2 4695 HP:0002793 Abnormal pattern of respiration OMIM:256000 NDUFA2 4695 HP:0003676 Progressive disorder OMIM:256000 NDUFA2 4695 HP:0001404 Hepatocellular necrosis OMIM:256000 NDUFA2 4695 HP:0001427 Mitochondrial inheritance OMIM:256000 NDUFA2 4695 HP:0002490 Increased CSF lactate OMIM:256000 NDUFA2 4695 HP:0001347 Hyperreflexia OMIM:256000 NDUFA2 4695 HP:0002878 Respiratory failure OMIM:256000 NDUFA2 4695 HP:0002171 Gliosis OMIM:256000 NDUFA2 4695 HP:0001251 Ataxia OMIM:256000 NDUFA2 4695 HP:0001252 Muscular hypotonia OMIM:256000 NDUFA2 4695 HP:0001332 Dystonia OMIM:256000 NDUFA2 4695 HP:0000712 Emotional lability OMIM:256000 NDUFA2 4695 HP:0002151 Increased serum lactate OMIM:256000 NDUFA2 4695 HP:0001263 Global developmental delay OMIM:256000 NDUFA2 4695 HP:0000998 Hypertrichosis OMIM:256000 NDUFA2 4695 HP:0003593 Infantile onset OMIM:256000 NDUFA2 4695 HP:0001508 Failure to thrive OMIM:256000 NDUFA2 4695 HP:0000580 Pigmentary retinopathy OMIM:256000 NDUFA2 4695 HP:0000602 Ophthalmoplegia OMIM:256000 NDUFA2 4695 HP:0003812 Phenotypic variability OMIM:256000 NDUFA2 4695 HP:0001250 Seizures OMIM:256000 NDUFA2 4695 HP:0000648 Optic atrophy OMIM:256000 NDUFA2 4695 HP:0000407 Sensorineural hearing impairment OMIM:256000 NDUFA2 4695 HP:0001257 Spasticity OMIM:256000 NDUFS8 4728 HP:0007305 CNS demyelination OMIM:256000 NDUFS8 4728 HP:0001249 Intellectual disability OMIM:256000 NDUFS8 4728 HP:0001260 Dysarthria OMIM:256000 NDUFS8 4728 HP:0000007 Autosomal recessive inheritance OMIM:256000 NDUFS8 4728 HP:0001425 Heterogeneous OMIM:256000 NDUFS8 4728 HP:0003128 Lactic acidosis OMIM:256000 NDUFS8 4728 HP:0000639 Nystagmus OMIM:256000 NDUFS8 4728 HP:0002793 Abnormal pattern of respiration OMIM:256000 NDUFS8 4728 HP:0003676 Progressive disorder OMIM:256000 NDUFS8 4728 HP:0001404 Hepatocellular necrosis OMIM:256000 NDUFS8 4728 HP:0001427 Mitochondrial inheritance OMIM:256000 NDUFS8 4728 HP:0002490 Increased CSF lactate OMIM:256000 NDUFS8 4728 HP:0001347 Hyperreflexia OMIM:256000 NDUFS8 4728 HP:0002878 Respiratory failure OMIM:256000 NDUFS8 4728 HP:0002171 Gliosis OMIM:256000 NDUFS8 4728 HP:0001251 Ataxia OMIM:256000 NDUFS8 4728 HP:0001252 Muscular hypotonia OMIM:256000 NDUFS8 4728 HP:0001332 Dystonia OMIM:256000 NDUFS8 4728 HP:0000712 Emotional lability OMIM:256000 NDUFS8 4728 HP:0002151 Increased serum lactate OMIM:256000 NDUFS8 4728 HP:0001263 Global developmental delay OMIM:256000 NDUFS8 4728 HP:0000998 Hypertrichosis OMIM:256000 NDUFS8 4728 HP:0003593 Infantile onset OMIM:256000 NDUFS8 4728 HP:0001508 Failure to thrive OMIM:256000 NDUFS8 4728 HP:0000580 Pigmentary retinopathy OMIM:256000 NDUFS8 4728 HP:0000602 Ophthalmoplegia OMIM:256000 NDUFS8 4728 HP:0003812 Phenotypic variability OMIM:256000 NDUFS8 4728 HP:0001250 Seizures OMIM:256000 NDUFS8 4728 HP:0000648 Optic atrophy OMIM:256000 NDUFS8 4728 HP:0000407 Sensorineural hearing impairment OMIM:256000 NDUFS8 4728 HP:0001257 Spasticity OMIM:256000 FOXRED1 55572 HP:0007305 CNS demyelination OMIM:256000 FOXRED1 55572 HP:0001249 Intellectual disability OMIM:256000 FOXRED1 55572 HP:0001260 Dysarthria OMIM:256000 FOXRED1 55572 HP:0000007 Autosomal recessive inheritance OMIM:256000 FOXRED1 55572 HP:0001425 Heterogeneous OMIM:256000 FOXRED1 55572 HP:0003128 Lactic acidosis OMIM:256000 FOXRED1 55572 HP:0000639 Nystagmus OMIM:256000 FOXRED1 55572 HP:0002793 Abnormal pattern of respiration OMIM:256000 FOXRED1 55572 HP:0003676 Progressive disorder OMIM:256000 FOXRED1 55572 HP:0001404 Hepatocellular necrosis OMIM:256000 FOXRED1 55572 HP:0001427 Mitochondrial inheritance OMIM:256000 FOXRED1 55572 HP:0002490 Increased CSF lactate OMIM:256000 FOXRED1 55572 HP:0001347 Hyperreflexia OMIM:256000 FOXRED1 55572 HP:0002878 Respiratory failure OMIM:256000 FOXRED1 55572 HP:0002171 Gliosis OMIM:256000 FOXRED1 55572 HP:0001251 Ataxia OMIM:256000 FOXRED1 55572 HP:0001252 Muscular hypotonia OMIM:256000 FOXRED1 55572 HP:0001332 Dystonia OMIM:256000 FOXRED1 55572 HP:0000712 Emotional lability OMIM:256000 FOXRED1 55572 HP:0002151 Increased serum lactate OMIM:256000 FOXRED1 55572 HP:0001263 Global developmental delay OMIM:256000 FOXRED1 55572 HP:0000998 Hypertrichosis OMIM:256000 FOXRED1 55572 HP:0003593 Infantile onset OMIM:256000 FOXRED1 55572 HP:0001508 Failure to thrive OMIM:256000 FOXRED1 55572 HP:0000580 Pigmentary retinopathy OMIM:256000 FOXRED1 55572 HP:0000602 Ophthalmoplegia OMIM:256000 FOXRED1 55572 HP:0003812 Phenotypic variability OMIM:256000 FOXRED1 55572 HP:0001250 Seizures OMIM:256000 FOXRED1 55572 HP:0000648 Optic atrophy OMIM:256000 FOXRED1 55572 HP:0000407 Sensorineural hearing impairment OMIM:256000 FOXRED1 55572 HP:0001257 Spasticity OMIM:256000 NDUFAF6 137682 HP:0007305 CNS demyelination OMIM:256000 NDUFAF6 137682 HP:0001249 Intellectual disability OMIM:256000 NDUFAF6 137682 HP:0001260 Dysarthria OMIM:256000 NDUFAF6 137682 HP:0000007 Autosomal recessive inheritance OMIM:256000 NDUFAF6 137682 HP:0001425 Heterogeneous OMIM:256000 NDUFAF6 137682 HP:0003128 Lactic acidosis OMIM:256000 NDUFAF6 137682 HP:0000639 Nystagmus OMIM:256000 NDUFAF6 137682 HP:0002793 Abnormal pattern of respiration OMIM:256000 NDUFAF6 137682 HP:0003676 Progressive disorder OMIM:256000 NDUFAF6 137682 HP:0001404 Hepatocellular necrosis OMIM:256000 NDUFAF6 137682 HP:0001427 Mitochondrial inheritance OMIM:256000 NDUFAF6 137682 HP:0002490 Increased CSF lactate OMIM:256000 NDUFAF6 137682 HP:0001347 Hyperreflexia OMIM:256000 NDUFAF6 137682 HP:0002878 Respiratory failure OMIM:256000 NDUFAF6 137682 HP:0002171 Gliosis OMIM:256000 NDUFAF6 137682 HP:0001251 Ataxia OMIM:256000 NDUFAF6 137682 HP:0001252 Muscular hypotonia OMIM:256000 NDUFAF6 137682 HP:0001332 Dystonia OMIM:256000 NDUFAF6 137682 HP:0000712 Emotional lability OMIM:256000 NDUFAF6 137682 HP:0002151 Increased serum lactate OMIM:256000 NDUFAF6 137682 HP:0001263 Global developmental delay OMIM:256000 NDUFAF6 137682 HP:0000998 Hypertrichosis OMIM:256000 NDUFAF6 137682 HP:0003593 Infantile onset OMIM:256000 NDUFAF6 137682 HP:0001508 Failure to thrive OMIM:256000 NDUFAF6 137682 HP:0000580 Pigmentary retinopathy OMIM:256000 NDUFAF6 137682 HP:0000602 Ophthalmoplegia OMIM:256000 NDUFAF6 137682 HP:0003812 Phenotypic variability OMIM:256000 NDUFAF6 137682 HP:0001250 Seizures OMIM:256000 NDUFAF6 137682 HP:0000648 Optic atrophy OMIM:256000 NDUFAF6 137682 HP:0000407 Sensorineural hearing impairment OMIM:256000 NDUFAF6 137682 HP:0001257 Spasticity OMIM:607921 FSCN2 25794 HP:0007843 Attenuation of retinal blood vessels OMIM:607921 FSCN2 25794 HP:0000006 Autosomal dominant inheritance OMIM:607921 FSCN2 25794 HP:0000662 Night blindness OMIM:607921 FSCN2 25794 HP:0000533 Chorioretinal atrophy OMIM:607921 FSCN2 25794 HP:0000510 Retinitis pigmentosa OMIM:607921 FSCN2 25794 HP:0007737 Bony spicule pigmentary retinopathy OMIM:607921 FSCN2 25794 HP:0000648 Optic atrophy OMIM:607921 FSCN2 25794 HP:0000505 Visual impairment OMIM:614441 SLCO2A1 6578 HP:0000007 Autosomal recessive inheritance OMIM:614441 SLCO2A1 6578 HP:0030314 Periostosis OMIM:614441 SLCO2A1 6578 HP:0002829 Arthralgia OMIM:614441 SLCO2A1 6578 HP:0001217 Clubbing OMIM:609886 UMOD 7369 HP:0000083 Renal insufficiency OMIM:609886 UMOD 7369 HP:0100611 Multiple glomerular cysts OMIM:609886 UMOD 7369 HP:0000006 Autosomal dominant inheritance OMIM:609886 UMOD 7369 HP:0002149 Hyperuricemia OMIM:609886 UMOD 7369 HP:0000091 Abnormality of the renal tubule OMIM:616368 AFF4 27125 HP:0001513 Obesity OMIM:616368 AFF4 27125 HP:0002020 Gastroesophageal reflux OMIM:616368 AFF4 27125 HP:0000648 Optic atrophy OMIM:616368 AFF4 27125 HP:0000518 Cataract OMIM:616368 AFF4 27125 HP:0000280 Coarse facial features OMIM:616368 AFF4 27125 HP:0002714 Downturned corners of mouth OMIM:616368 AFF4 27125 HP:0000365 Hearing impairment OMIM:616368 AFF4 27125 HP:0000520 Proptosis OMIM:616368 AFF4 27125 HP:0001601 Laryngomalacia OMIM:616368 AFF4 27125 HP:0000527 Long eyelashes OMIM:616368 AFF4 27125 HP:0002777 Tracheal stenosis OMIM:616368 AFF4 27125 HP:0001263 Global developmental delay OMIM:616368 AFF4 27125 HP:0001671 Abnormality of the cardiac septa OMIM:616368 AFF4 27125 HP:0000076 Vesicoureteral reflux OMIM:616368 AFF4 27125 HP:0100874 Thick hair OMIM:616368 AFF4 27125 HP:0000085 Horseshoe kidney OMIM:616368 AFF4 27125 HP:0000311 Round face OMIM:616368 AFF4 27125 HP:0011951 Aspiration pneumonia OMIM:616368 AFF4 27125 HP:0001249 Intellectual disability OMIM:616368 AFF4 27125 HP:0003196 Short nose OMIM:616368 AFF4 27125 HP:0001156 Brachydactyly syndrome OMIM:616368 AFF4 27125 HP:0000574 Thick eyebrow OMIM:616368 AFF4 27125 HP:0000316 Hypertelorism OMIM:616368 AFF4 27125 HP:0001643 Patent ductus arteriosus OMIM:616368 AFF4 27125 HP:0000028 Cryptorchidism OMIM:616368 AFF4 27125 HP:0006528 Chronic lung disease OMIM:616368 AFF4 27125 HP:0004322 Short stature OMIM:615993 SDCCAG8 10806 HP:0003241 External genital hypoplasia OMIM:615993 SDCCAG8 10806 HP:0000403 Recurrent otitis media OMIM:615993 SDCCAG8 10806 HP:0000510 Retinitis pigmentosa OMIM:615993 SDCCAG8 10806 HP:0000546 Retinal degeneration OMIM:615993 SDCCAG8 10806 HP:0001249 Intellectual disability OMIM:615993 SDCCAG8 10806 HP:0000083 Renal insufficiency OMIM:615993 SDCCAG8 10806 HP:0011950 Bronchiolitis OMIM:615993 SDCCAG8 10806 HP:0002205 Recurrent respiratory infections OMIM:615993 SDCCAG8 10806 HP:0001263 Global developmental delay OMIM:615993 SDCCAG8 10806 HP:0100543 Cognitive impairment OMIM:615993 SDCCAG8 10806 HP:0000110 Renal dysplasia OMIM:615993 SDCCAG8 10806 HP:0000135 Hypogonadism OMIM:615993 SDCCAG8 10806 HP:0000104 Renal agenesis OMIM:615993 SDCCAG8 10806 HP:0002098 Respiratory distress OMIM:615993 SDCCAG8 10806 HP:0001513 Obesity OMIM:615993 SDCCAG8 10806 HP:0000107 Renal cyst OMIM:133540 ERCC6 2074 HP:0008839 Hypoplastic pelvis OMIM:133540 ERCC6 2074 HP:0000028 Cryptorchidism OMIM:133540 ERCC6 2074 HP:0001249 Intellectual disability OMIM:133540 ERCC6 2074 HP:0000303 Mandibular prognathia OMIM:133540 ERCC6 2074 HP:0003510 Severe short stature OMIM:133540 ERCC6 2074 HP:0000518 Cataract OMIM:133540 ERCC6 2074 HP:0006958 Abnormal auditory evoked potentials OMIM:133540 ERCC6 2074 HP:0007346 Subcortical white matter calcifications OMIM:133540 ERCC6 2074 HP:0004334 Dermal atrophy OMIM:133540 ERCC6 2074 HP:0011675 Arrhythmia OMIM:133540 ERCC6 2074 HP:0002545 Patchy demyelination of subcortical white matter OMIM:133540 ERCC6 2074 HP:0002343 Normal pressure hydrocephalus OMIM:133540 ERCC6 2074 HP:0010234 Ivory epiphyses of the phalanges of the hand OMIM:133540 ERCC6 2074 HP:0000580 Pigmentary retinopathy OMIM:133540 ERCC6 2074 HP:0000762 Decreased nerve conduction velocity OMIM:133540 ERCC6 2074 HP:0000958 Dry skin OMIM:133540 ERCC6 2074 HP:0000083 Renal insufficiency OMIM:133540 ERCC6 2074 HP:0001525 Severe failure to thrive OMIM:133540 ERCC6 2074 HP:0000987 Atypical scarring of skin OMIM:133540 ERCC6 2074 HP:0008070 Sparse hair OMIM:133540 ERCC6 2074 HP:0000822 Hypertension OMIM:133540 ERCC6 2074 HP:0000486 Strabismus OMIM:133540 ERCC6 2074 HP:0007352 Cerebellar calcifications OMIM:133540 ERCC6 2074 HP:0000540 Hypermetropia OMIM:133540 ERCC6 2074 HP:0000407 Sensorineural hearing impairment OMIM:133540 ERCC6 2074 HP:0003130 Abnormal peripheral myelination OMIM:133540 ERCC6 2074 HP:0000633 Decreased lacrimation OMIM:133540 ERCC6 2074 HP:0007676 Hypoplasia of the iris OMIM:133540 ERCC6 2074 HP:0000093 Proteinuria OMIM:133540 ERCC6 2074 HP:0000292 Loss of facial adipose tissue OMIM:133540 ERCC6 2074 HP:0001271 Polyneuropathy OMIM:133540 ERCC6 2074 HP:0000939 Osteoporosis OMIM:133540 ERCC6 2074 HP:0000970 Anhidrosis OMIM:133540 ERCC6 2074 HP:0002684 Thickened calvaria OMIM:133540 ERCC6 2074 HP:0001744 Splenomegaly OMIM:133540 ERCC6 2074 HP:0007759 Opacification of the corneal stroma OMIM:133540 ERCC6 2074 HP:0001518 Small for gestational age OMIM:133540 ERCC6 2074 HP:0008897 Postnatal growth retardation OMIM:133540 ERCC6 2074 HP:0000639 Nystagmus OMIM:133540 ERCC6 2074 HP:0000007 Autosomal recessive inheritance OMIM:133540 ERCC6 2074 HP:0000054 Micropenis OMIM:133540 ERCC6 2074 HP:0000689 Dental malocclusion OMIM:133540 ERCC6 2074 HP:0000482 Microcornea OMIM:133540 ERCC6 2074 HP:0002135 Basal ganglia calcification OMIM:133540 ERCC6 2074 HP:0003224 Increased cellular sensitivity to UV light OMIM:133540 ERCC6 2074 HP:0002866 Hypoplastic iliac wing OMIM:133540 ERCC6 2074 HP:0001324 Muscle weakness OMIM:133540 ERCC6 2074 HP:0002808 Kyphosis OMIM:133540 ERCC6 2074 HP:0000649 Abnormality of vision evoked potentials OMIM:133540 ERCC6 2074 HP:0003278 Square pelvis bone OMIM:133540 ERCC6 2074 HP:0001251 Ataxia OMIM:133540 ERCC6 2074 HP:0000568 Microphthalmos OMIM:133540 ERCC6 2074 HP:0000377 Abnormality of the pinna OMIM:133540 ERCC6 2074 HP:0000648 Optic atrophy OMIM:133540 ERCC6 2074 HP:0003469 Peripheral dysmyelination OMIM:133540 ERCC6 2074 HP:0000670 Carious teeth OMIM:133540 ERCC6 2074 HP:0011359 Dry hair OMIM:133540 ERCC6 2074 HP:0000992 Cutaneous photosensitivity OMIM:133540 ERCC6 2074 HP:0001595 Abnormality of the hair OMIM:133540 ERCC6 2074 HP:0003758 Reduced subcutaneous adipose tissue OMIM:133540 ERCC6 2074 HP:0002240 Hepatomegaly OMIM:133540 ERCC6 2074 HP:0000417 Slender nose OMIM:133540 ERCC6 2074 HP:0001000 Abnormality of skin pigmentation OMIM:133540 ERCC6 2074 HP:0001376 Limitation of joint mobility OMIM:133540 ERCC6 2074 HP:0001250 Seizures OMIM:133540 ERCC6 2074 HP:0000252 Microcephaly OMIM:133540 ERCC6 2074 HP:0005328 Progeroid facial appearance OMIM:133540 ERCC6 2074 HP:0000680 Delayed eruption of primary teeth OMIM:133540 ERCC6 2074 HP:0002059 Cerebral atrophy OMIM:133540 ERCC6 2074 HP:0000685 Hypoplasia of teeth OMIM:133540 ERCC6 2074 HP:0001511 Intrauterine growth retardation OMIM:133540 ERCC6 2074 HP:0001337 Tremor OMIM:614679 CCDC103 388389 HP:0005938 Abnormal respiratory motile cilium morphology OMIM:614679 CCDC103 388389 HP:0001696 Situs inversus totalis OMIM:614679 CCDC103 388389 HP:0011109 Chronic sinusitis OMIM:614679 CCDC103 388389 HP:0002205 Recurrent respiratory infections OMIM:614679 CCDC103 388389 HP:0003577 Congenital onset OMIM:614679 CCDC103 388389 HP:0000007 Autosomal recessive inheritance OMIM:614679 CCDC103 388389 HP:0012265 Ciliary dyskinesia OMIM:614679 CCDC103 388389 HP:0002257 Chronic rhinitis OMIM:614679 CCDC103 388389 HP:0002110 Bronchiectasis OMIM:606232 SHANK3 85358 HP:0000414 Bulbous nose OMIM:606232 SHANK3 85358 HP:0002342 Intellectual disability, moderate OMIM:606232 SHANK3 85358 HP:0000960 Sacral dimple OMIM:606232 SHANK3 85358 HP:0000708 Behavioral abnormality OMIM:606232 SHANK3 85358 HP:0000486 Strabismus OMIM:606232 SHANK3 85358 HP:0000689 Dental malocclusion OMIM:606232 SHANK3 85358 HP:0100543 Cognitive impairment OMIM:606232 SHANK3 85358 HP:0000331 Short chin OMIM:606232 SHANK3 85358 HP:0000365 Hearing impairment OMIM:606232 SHANK3 85358 HP:0000400 Macrotia OMIM:606232 SHANK3 85358 HP:0000574 Thick eyebrow OMIM:606232 SHANK3 85358 HP:0000293 Full cheeks OMIM:606232 SHANK3 85358 HP:0000252 Microcephaly OMIM:606232 SHANK3 85358 HP:0001263 Global developmental delay OMIM:606232 SHANK3 85358 HP:0001643 Patent ductus arteriosus OMIM:606232 SHANK3 85358 HP:0001629 Ventricular septal defect OMIM:606232 SHANK3 85358 HP:0100797 Toenail dysplasia OMIM:606232 SHANK3 85358 HP:0000718 Aggressive behavior OMIM:606232 SHANK3 85358 HP:0001250 Seizures OMIM:606232 SHANK3 85358 HP:0003745 Sporadic OMIM:606232 SHANK3 85358 HP:0000431 Wide nasal bridge OMIM:606232 SHANK3 85358 HP:0001265 Hyporeflexia OMIM:606232 SHANK3 85358 HP:0002020 Gastroesophageal reflux OMIM:606232 SHANK3 85358 HP:0002167 Neurological speech impairment OMIM:606232 SHANK3 85358 HP:0007328 Impaired pain sensation OMIM:606232 SHANK3 85358 HP:0000508 Ptosis OMIM:606232 SHANK3 85358 HP:0000256 Macrocephaly OMIM:606232 SHANK3 85358 HP:0002518 Abnormality of the periventricular white matter OMIM:606232 SHANK3 85358 HP:0100702 Arachnoid cyst OMIM:606232 SHANK3 85358 HP:0001319 Neonatal hypotonia OMIM:606232 SHANK3 85358 HP:0100658 Cellulitis OMIM:606232 SHANK3 85358 HP:0000490 Deeply set eye OMIM:606232 SHANK3 85358 HP:0001176 Large hands OMIM:606232 SHANK3 85358 HP:0000268 Dolichocephaly OMIM:606232 SHANK3 85358 HP:0010978 Abnormality of immune system physiology OMIM:606232 SHANK3 85358 HP:0000286 Epicanthus OMIM:606232 SHANK3 85358 HP:0100540 Palpebral edema OMIM:606232 SHANK3 85358 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:606232 SHANK3 85358 HP:0000527 Long eyelashes OMIM:606232 SHANK3 85358 HP:0000113 Polycystic kidney dysplasia OMIM:606232 SHANK3 85358 HP:0100703 Tongue thrusting OMIM:606232 SHANK3 85358 HP:0000750 Delayed speech and language development OMIM:606232 SHANK3 85358 HP:0000272 Malar flattening OMIM:606232 SHANK3 85358 HP:0011120 Concave nasal ridge OMIM:606232 SHANK3 85358 HP:0000966 Hypohidrosis OMIM:606232 SHANK3 85358 HP:0001270 Motor delay OMIM:606232 SHANK3 85358 HP:0000817 Poor eye contact OMIM:606232 SHANK3 85358 HP:0000307 Pointed chin OMIM:606232 SHANK3 85358 HP:0000076 Vesicoureteral reflux OMIM:606232 SHANK3 85358 HP:0004209 Clinodactyly of the 5th finger OMIM:606232 SHANK3 85358 HP:0003763 Bruxism OMIM:606232 SHANK3 85358 HP:0001800 Hypoplastic toenails OMIM:606232 SHANK3 85358 HP:0000717 Autism OMIM:606232 SHANK3 85358 HP:0001004 Lymphedema OMIM:606232 SHANK3 85358 HP:0011968 Feeding difficulties OMIM:606232 SHANK3 85358 HP:0002120 Cerebral cortical atrophy OMIM:606232 SHANK3 85358 HP:0000164 Abnormality of the teeth OMIM:606232 SHANK3 85358 HP:0001252 Muscular hypotonia OMIM:606232 SHANK3 85358 HP:0001537 Umbilical hernia OMIM:606232 SHANK3 85358 HP:0004691 2-3 toe syndactyly OMIM:606232 SHANK3 85358 HP:0001290 Generalized hypotonia OMIM:606232 SHANK3 85358 HP:0002572 Episodic vomiting OMIM:606232 SHANK3 85358 HP:0100704 Cortical visual impairment OMIM:606232 SHANK3 85358 HP:0002188 Delayed CNS myelination OMIM:606232 SHANK3 85358 HP:0000499 Abnormality of the eyelashes OMIM:606232 SHANK3 85358 HP:0000411 Protruding ear OMIM:606232 SHANK3 85358 HP:0005105 Abnormal nasal morphology OMIM:606232 SHANK3 85358 HP:0002046 Heat intolerance OMIM:606232 SHANK3 85358 HP:0002119 Ventriculomegaly OMIM:606232 SHANK3 85358 HP:0001513 Obesity OMIM:606232 SHANK3 85358 HP:0000218 High palate OMIM:606232 SHANK3 85358 HP:0000343 Long philtrum OMIM:606232 SHANK3 85358 HP:0002136 Broad-based gait OMIM:606232 SHANK3 85358 HP:0000098 Tall stature OMIM:606232 SHANK3 85358 HP:0002317 Unsteady gait OMIM:606232 SHANK3 85358 HP:0005616 Accelerated skeletal maturation OMIM:606232 SHANK3 85358 HP:0000710 Hyperorality OMIM:190350 TRPS1 7227 HP:0010300 Abnormally low-pitched voice OMIM:190350 TRPS1 7227 HP:0000347 Micrognathia OMIM:190350 TRPS1 7227 HP:0000219 Thin upper lip vermilion OMIM:190350 TRPS1 7227 HP:0002002 Deep philtrum OMIM:190350 TRPS1 7227 HP:0010743 Short metatarsal OMIM:190350 TRPS1 7227 HP:0005338 Sparse lateral eyebrow OMIM:190350 TRPS1 7227 HP:0002758 Osteoarthritis OMIM:190350 TRPS1 7227 HP:0000938 Osteopenia OMIM:190350 TRPS1 7227 HP:0011823 Chin with horizontal crease OMIM:190350 TRPS1 7227 HP:0001763 Pes planus OMIM:190350 TRPS1 7227 HP:0010259 Cone-shaped epiphyses of the middle phalanges of the hand OMIM:190350 TRPS1 7227 HP:0002805 Accelerated bone age after puberty OMIM:190350 TRPS1 7227 HP:0001816 Thin nail OMIM:190350 TRPS1 7227 HP:0000400 Macrotia OMIM:190350 TRPS1 7227 HP:0000670 Carious teeth OMIM:190350 TRPS1 7227 HP:0000006 Autosomal dominant inheritance OMIM:190350 TRPS1 7227 HP:0003691 Scapular winging OMIM:190350 TRPS1 7227 HP:0008947 Infantile muscular hypotonia OMIM:190350 TRPS1 7227 HP:0003370 Flat capital femoral epiphysis OMIM:190350 TRPS1 7227 HP:0006253 Swelling of proximal interphalangeal joints OMIM:190350 TRPS1 7227 HP:0000691 Microdontia OMIM:190350 TRPS1 7227 HP:0001598 Concave nail OMIM:190350 TRPS1 7227 HP:0010252 Ivory epiphyses of the distal phalanges of the hand OMIM:190350 TRPS1 7227 HP:0004322 Short stature OMIM:190350 TRPS1 7227 HP:0000343 Long philtrum OMIM:190350 TRPS1 7227 HP:0000684 Delayed eruption of teeth OMIM:190350 TRPS1 7227 HP:0002217 Slow-growing hair OMIM:190350 TRPS1 7227 HP:0010270 Cone-shaped epiphyses of the proximal phalanges of the hand OMIM:190350 TRPS1 7227 HP:0008070 Sparse hair OMIM:190350 TRPS1 7227 HP:0005743 Avascular necrosis of the capital femoral epiphysis OMIM:190350 TRPS1 7227 HP:0000447 Pear-shaped nose OMIM:190350 TRPS1 7227 HP:0002750 Delayed skeletal maturation OMIM:190350 TRPS1 7227 HP:0001820 Leukonychia OMIM:190350 TRPS1 7227 HP:0000189 Narrow palate OMIM:190350 TRPS1 7227 HP:0002829 Arthralgia OMIM:190350 TRPS1 7227 HP:0002650 Scoliosis OMIM:190350 TRPS1 7227 HP:0002213 Fine hair OMIM:190350 TRPS1 7227 HP:0000689 Dental malocclusion OMIM:190350 TRPS1 7227 HP:0000768 Pectus carinatum OMIM:190350 TRPS1 7227 HP:0003279 Coxa magna OMIM:190350 TRPS1 7227 HP:0000411 Protruding ear OMIM:190350 TRPS1 7227 HP:0002205 Recurrent respiratory infections OMIM:190350 TRPS1 7227 HP:0003307 Hyperlordosis OMIM:190350 TRPS1 7227 HP:0010049 Short metacarpal OMIM:236730 HPSE2 60495 HP:0000007 Autosomal recessive inheritance OMIM:236730 HPSE2 60495 HP:0000028 Cryptorchidism OMIM:236730 HPSE2 60495 HP:0002019 Constipation OMIM:236730 HPSE2 60495 HP:0000126 Hydronephrosis OMIM:236730 HPSE2 60495 HP:0001999 Abnormal facial shape OMIM:236730 HPSE2 60495 HP:0000072 Hydroureter OMIM:236730 HPSE2 60495 HP:0010481 Urethral valve OMIM:236730 HPSE2 60495 HP:0005346 Abnormal facial expression OMIM:236730 HPSE2 60495 HP:0000805 Enuresis OMIM:236730 HPSE2 60495 HP:0000010 Recurrent urinary tract infections OMIM:604131 HBA1 3039 HP:0100543 Cognitive impairment OMIM:604131 HBA1 3039 HP:0002863 Myelodysplasia OMIM:604131 HBA1 3039 HP:0001744 Splenomegaly OMIM:604131 HBA1 3039 HP:0001789 Hydrops fetalis OMIM:604131 HBA1 3039 HP:0004840 Hypochromic microcytic anemia OMIM:604131 HBA1 3039 HP:0001971 Hypersplenism OMIM:604131 HBA1 3039 HP:0001080 Biliary tract abnormality OMIM:604131 HBA1 3039 HP:0011907 Reduced alpha/beta synthesis ratio OMIM:604131 HBA1 3039 HP:0010978 Abnormality of immune system physiology OMIM:604131 HBA1 3039 HP:0001878 Hemolytic anemia OMIM:604131 HBA1 3039 HP:0010472 Abnormality of the heme biosynthetic pathway OMIM:604131 HBA2 3040 HP:0100543 Cognitive impairment OMIM:604131 HBA2 3040 HP:0002863 Myelodysplasia OMIM:604131 HBA2 3040 HP:0001744 Splenomegaly OMIM:604131 HBA2 3040 HP:0001789 Hydrops fetalis OMIM:604131 HBA2 3040 HP:0004840 Hypochromic microcytic anemia OMIM:604131 HBA2 3040 HP:0001971 Hypersplenism OMIM:604131 HBA2 3040 HP:0001080 Biliary tract abnormality OMIM:604131 HBA2 3040 HP:0011907 Reduced alpha/beta synthesis ratio OMIM:604131 HBA2 3040 HP:0010978 Abnormality of immune system physiology OMIM:604131 HBA2 3040 HP:0001878 Hemolytic anemia OMIM:604131 HBA2 3040 HP:0010472 Abnormality of the heme biosynthetic pathway OMIM:601815 PHGDH 26227 HP:0001250 Seizures OMIM:601815 PHGDH 26227 HP:0001873 Thrombocytopenia OMIM:601815 PHGDH 26227 HP:0001510 Growth delay OMIM:601815 PHGDH 26227 HP:0007266 Cerebral dysmyelination OMIM:601815 PHGDH 26227 HP:0002510 Spastic tetraplegia OMIM:601815 PHGDH 26227 HP:0011451 Congenital microcephaly OMIM:601815 PHGDH 26227 HP:0008734 Decreased testicular size OMIM:601815 PHGDH 26227 HP:0000519 Congenital cataract OMIM:601815 PHGDH 26227 HP:0000639 Nystagmus OMIM:601815 PHGDH 26227 HP:0000007 Autosomal recessive inheritance OMIM:601815 PHGDH 26227 HP:0001249 Intellectual disability OMIM:601815 PHGDH 26227 HP:0001181 Adducted thumb OMIM:601815 PHGDH 26227 HP:0001889 Megaloblastic anemia OMIM:601815 PHGDH 26227 HP:0002521 Hypsarrhythmia OMIM:615515 ERBB4 2066 HP:0006957 Loss of ability to walk OMIM:615515 ERBB4 2066 HP:0007354 Amyotrophic lateral sclerosis OMIM:615515 ERBB4 2066 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:615515 ERBB4 2066 HP:0000006 Autosomal dominant inheritance OMIM:616187 KCNC1 3746 HP:0001336 Myoclonus OMIM:616187 KCNC1 3746 HP:0001272 Cerebellar atrophy OMIM:616187 KCNC1 3746 HP:0001268 Mental deterioration OMIM:616187 KCNC1 3746 HP:0001251 Ataxia OMIM:616187 KCNC1 3746 HP:0001337 Tremor OMIM:615133 GALNTL5 168391 HP:0000007 Autosomal recessive inheritance OMIM:615133 GALNTL5 168391 HP:0000609 Optic nerve hypoplasia OMIM:609016 HADHA 3030 HP:0001638 Cardiomyopathy OMIM:609016 HADHA 3030 HP:0002240 Hepatomegaly OMIM:609016 HADHA 3030 HP:0001943 Hypoglycemia OMIM:609016 HADHA 3030 HP:0001252 Muscular hypotonia OMIM:609016 HADHA 3030 HP:0000488 Retinopathy OMIM:609016 HADHA 3030 HP:0001699 Sudden death OMIM:609016 HADHA 3030 HP:0100950 Long chain 3 hydroxyacyl coA dehydrogenase deficiency OMIM:608644 DNAH5 1767 HP:0001696 Situs inversus totalis OMIM:608644 DNAH5 1767 HP:0012265 Ciliary dyskinesia OMIM:608644 DNAH5 1767 HP:0002205 Recurrent respiratory infections OMIM:608644 DNAH5 1767 HP:0000007 Autosomal recessive inheritance OMIM:600795 CHMP2B 25978 HP:0000757 Lack of insight OMIM:600795 CHMP2B 25978 HP:0002310 Orofacial dyskinesia OMIM:600795 CHMP2B 25978 HP:0000711 Restlessness OMIM:600795 CHMP2B 25978 HP:0002446 Astrocytosis OMIM:600795 CHMP2B 25978 HP:0000734 Disinhibition OMIM:600795 CHMP2B 25978 HP:0000733 Stereotypic behavior OMIM:600795 CHMP2B 25978 HP:0001288 Gait disturbance OMIM:600795 CHMP2B 25978 HP:0002371 Loss of speech OMIM:600795 CHMP2B 25978 HP:0002354 Memory impairment OMIM:600795 CHMP2B 25978 HP:0001347 Hyperreflexia OMIM:600795 CHMP2B 25978 HP:0000718 Aggressive behavior OMIM:600795 CHMP2B 25978 HP:0001336 Myoclonus OMIM:600795 CHMP2B 25978 HP:0002442 Dyscalculia OMIM:600795 CHMP2B 25978 HP:0000006 Autosomal dominant inheritance OMIM:600795 CHMP2B 25978 HP:0000741 Apathy OMIM:600795 CHMP2B 25978 HP:0002529 Neuronal loss in central nervous system OMIM:600795 CHMP2B 25978 HP:0000743 Frontal release signs OMIM:600795 CHMP2B 25978 HP:0000710 Hyperorality OMIM:600795 CHMP2B 25978 HP:0001332 Dystonia OMIM:600795 CHMP2B 25978 HP:0002300 Mutism OMIM:600795 CHMP2B 25978 HP:0002120 Cerebral cortical atrophy OMIM:600795 CHMP2B 25978 HP:0000020 Urinary incontinence OMIM:600795 CHMP2B 25978 HP:0002063 Rigidity OMIM:600795 CHMP2B 25978 HP:0000751 Personality changes OMIM:600795 CHMP2B 25978 HP:0002145 Frontotemporal dementia OMIM:600795 CHMP2B 25978 HP:0003487 Babinski sign OMIM:266265 SLC35C1 55343 HP:0000252 Microcephaly OMIM:266265 SLC35C1 55343 HP:0002120 Cerebral cortical atrophy OMIM:266265 SLC35C1 55343 HP:0000704 Periodontitis OMIM:266265 SLC35C1 55343 HP:0000388 Otitis media OMIM:266265 SLC35C1 55343 HP:0000007 Autosomal recessive inheritance OMIM:266265 SLC35C1 55343 HP:0004322 Short stature OMIM:266265 SLC35C1 55343 HP:0002090 Pneumonia OMIM:266265 SLC35C1 55343 HP:0001939 Abnormality of metabolism/homeostasis OMIM:266265 SLC35C1 55343 HP:0001252 Muscular hypotonia OMIM:266265 SLC35C1 55343 HP:0010864 Intellectual disability, severe OMIM:266265 SLC35C1 55343 HP:0001250 Seizures OMIM:266265 SLC35C1 55343 HP:0006887 Intellectual disability, progressive OMIM:266265 SLC35C1 55343 HP:0005400 Reduction of neutrophil motility OMIM:266265 SLC35C1 55343 HP:0001574 Abnormality of the integument ORPHANET:897 SOX10 6663 HP:0000664 Synophrys ORPHANET:897 SOX10 6663 HP:0001103 Abnormality of the macula ORPHANET:897 SOX10 6663 HP:0002251 Aganglionic megacolon ORPHANET:897 SOX10 6663 HP:0002216 Premature graying of hair ORPHANET:897 SOX10 6663 HP:0002019 Constipation ORPHANET:897 SOX10 6663 HP:0000365 Hearing impairment ORPHANET:897 SOX10 6663 HP:0005214 Intestinal obstruction ORPHANET:897 SOX10 6663 HP:0000430 Underdeveloped nasal alae ORPHANET:897 SOX10 6663 HP:0000506 Telecanthus ORPHANET:897 SOX10 6663 HP:0002027 Abdominal pain ORPHANET:897 SOX10 6663 HP:0002211 White forelock ORPHANET:897 SOX10 6663 HP:0000426 Prominent nasal bridge ORPHANET:897 SOX10 6663 HP:0007703 Abnormal retinal pigmentation ORPHANET:897 EDN3 1908 HP:0000664 Synophrys ORPHANET:897 EDN3 1908 HP:0001103 Abnormality of the macula ORPHANET:897 EDN3 1908 HP:0002251 Aganglionic megacolon ORPHANET:897 EDN3 1908 HP:0002216 Premature graying of hair ORPHANET:897 EDN3 1908 HP:0002019 Constipation ORPHANET:897 EDN3 1908 HP:0000365 Hearing impairment ORPHANET:897 EDN3 1908 HP:0005214 Intestinal obstruction ORPHANET:897 EDN3 1908 HP:0000430 Underdeveloped nasal alae ORPHANET:897 EDN3 1908 HP:0000506 Telecanthus ORPHANET:897 EDN3 1908 HP:0002027 Abdominal pain ORPHANET:897 EDN3 1908 HP:0002211 White forelock ORPHANET:897 EDN3 1908 HP:0000426 Prominent nasal bridge ORPHANET:897 EDN3 1908 HP:0007703 Abnormal retinal pigmentation ORPHANET:897 EDNRB 1910 HP:0000664 Synophrys ORPHANET:897 EDNRB 1910 HP:0001103 Abnormality of the macula ORPHANET:897 EDNRB 1910 HP:0002251 Aganglionic megacolon ORPHANET:897 EDNRB 1910 HP:0002216 Premature graying of hair ORPHANET:897 EDNRB 1910 HP:0002019 Constipation ORPHANET:897 EDNRB 1910 HP:0000365 Hearing impairment ORPHANET:897 EDNRB 1910 HP:0005214 Intestinal obstruction ORPHANET:897 EDNRB 1910 HP:0000430 Underdeveloped nasal alae ORPHANET:897 EDNRB 1910 HP:0000506 Telecanthus ORPHANET:897 EDNRB 1910 HP:0002027 Abdominal pain ORPHANET:897 EDNRB 1910 HP:0002211 White forelock ORPHANET:897 EDNRB 1910 HP:0000426 Prominent nasal bridge ORPHANET:897 EDNRB 1910 HP:0007703 Abnormal retinal pigmentation OMIM:607261 EVC2 132884 HP:0001408 Bile duct proliferation OMIM:607261 EVC2 132884 HP:0001395 Hepatic fibrosis OMIM:607261 EVC2 132884 HP:0000175 Cleft palate OMIM:607261 EVC2 132884 HP:0001305 Dandy-Walker malformation OMIM:607261 EVC2 132884 HP:0000238 Hydrocephalus OMIM:607261 EVC2 132884 HP:0001162 Postaxial hand polydactyly OMIM:304020 RPGR 6103 HP:0000613 Photophobia OMIM:304020 RPGR 6103 HP:0000545 Myopia OMIM:304020 RPGR 6103 HP:0000548 Cone-rod dystrophy OMIM:304020 RPGR 6103 HP:0001939 Abnormality of metabolism/homeostasis OMIM:304020 RPGR 6103 HP:0000639 Nystagmus OMIM:304020 RPGR 6103 HP:0007949 Progressive macular scarring OMIM:304020 RPGR 6103 HP:0000505 Visual impairment OMIM:613625 MCFD2 90411 HP:0003125 Reduced factor VIII activity OMIM:613625 MCFD2 90411 HP:0001934 Persistent bleeding after trauma OMIM:613625 MCFD2 90411 HP:0003225 Reduced factor V activity OMIM:613625 MCFD2 90411 HP:0000132 Menorrhagia OMIM:613625 MCFD2 90411 HP:0000007 Autosomal recessive inheritance OMIM:613625 MCFD2 90411 HP:0000421 Epistaxis OMIM:170390 KCNJ2 3759 HP:0002750 Delayed skeletal maturation OMIM:170390 KCNJ2 3759 HP:0006297 Hypoplasia of dental enamel OMIM:170390 KCNJ2 3759 HP:0001507 Growth abnormality OMIM:170390 KCNJ2 3759 HP:0010049 Short metacarpal OMIM:170390 KCNJ2 3759 HP:0001279 Syncope OMIM:170390 KCNJ2 3759 HP:0000677 Oligodontia OMIM:170390 KCNJ2 3759 HP:0009803 Short phalanx of finger OMIM:170390 KCNJ2 3759 HP:0003779 Antegonial notching of mandible OMIM:170390 KCNJ2 3759 HP:0000324 Facial asymmetry OMIM:170390 KCNJ2 3759 HP:0003691 Scapular winging OMIM:170390 KCNJ2 3759 HP:0000327 Hypoplasia of the maxilla OMIM:170390 KCNJ2 3759 HP:0004467 Preauricular pit OMIM:170390 KCNJ2 3759 HP:0001328 Specific learning disability OMIM:170390 KCNJ2 3759 HP:0010743 Short metatarsal OMIM:170390 KCNJ2 3759 HP:0000581 Blepharophimosis OMIM:170390 KCNJ2 3759 HP:0012745 Short palpebral fissure OMIM:170390 KCNJ2 3759 HP:0000414 Bulbous nose OMIM:170390 KCNJ2 3759 HP:0001773 Short foot OMIM:170390 KCNJ2 3759 HP:0002650 Scoliosis OMIM:170390 KCNJ2 3759 HP:0000337 Broad forehead OMIM:170390 KCNJ2 3759 HP:0000218 High palate OMIM:170390 KCNJ2 3759 HP:0000369 Low-set ears OMIM:170390 KCNJ2 3759 HP:0008153 Periodic hypokalemic paresis OMIM:170390 KCNJ2 3759 HP:0003778 Short mandibular rami OMIM:170390 KCNJ2 3759 HP:0000175 Cleft palate OMIM:170390 KCNJ2 3759 HP:0001388 Joint laxity OMIM:170390 KCNJ2 3759 HP:0001770 Toe syndactyly OMIM:170390 KCNJ2 3759 HP:0001962 Palpitations OMIM:170390 KCNJ2 3759 HP:0000325 Triangular face OMIM:170390 KCNJ2 3759 HP:0000696 Delayed eruption of permanent teeth OMIM:170390 KCNJ2 3759 HP:0004209 Clinodactyly of the 5th finger OMIM:170390 KCNJ2 3759 HP:0004279 Short palm OMIM:170390 KCNJ2 3759 HP:0001864 Clinodactyly of the 5th toe OMIM:170390 KCNJ2 3759 HP:0005147 Bidirectional ventricular ectopy OMIM:170390 KCNJ2 3759 HP:0000219 Thin upper lip vermilion OMIM:170390 KCNJ2 3759 HP:0001156 Brachydactyly syndrome OMIM:170390 KCNJ2 3759 HP:0001657 Prolonged QT interval OMIM:170390 KCNJ2 3759 HP:0200055 Small hand OMIM:170390 KCNJ2 3759 HP:0000316 Hypertelorism OMIM:170390 KCNJ2 3759 HP:0003100 Slender long bone OMIM:170390 KCNJ2 3759 HP:0006335 Persistence of primary teeth OMIM:170390 KCNJ2 3759 HP:0000252 Microcephaly OMIM:170390 KCNJ2 3759 HP:0000272 Malar flattening OMIM:170390 KCNJ2 3759 HP:0005478 Prominent frontal sinuses OMIM:170390 KCNJ2 3759 HP:0000006 Autosomal dominant inheritance OMIM:613985 LCRB 387281 HP:0000164 Abnormality of the teeth OMIM:613985 LCRB 387281 HP:0004370 Abnormality of temperature regulation OMIM:613985 LCRB 387281 HP:0001971 Hypersplenism OMIM:613985 LCRB 387281 HP:0001324 Muscle weakness OMIM:613985 LCRB 387281 HP:0004349 Reduced bone mineral density OMIM:613985 LCRB 387281 HP:0002652 Skeletal dysplasia OMIM:613985 LCRB 387281 HP:0000518 Cataract OMIM:613985 LCRB 387281 HP:0000829 Hypoparathyroidism OMIM:613985 LCRB 387281 HP:0000821 Hypothyroidism OMIM:613985 LCRB 387281 HP:0000365 Hearing impairment OMIM:613985 LCRB 387281 HP:0000819 Diabetes mellitus OMIM:613985 LCRB 387281 HP:0010620 Malar prominence OMIM:613985 LCRB 387281 HP:0010472 Abnormality of the heme biosynthetic pathway OMIM:613985 LCRB 387281 HP:0008872 Feeding difficulties in infancy OMIM:613985 LCRB 387281 HP:0002240 Hepatomegaly OMIM:613985 LCRB 387281 HP:0001645 Sudden cardiac death OMIM:613985 LCRB 387281 HP:0008207 Primary adrenal insufficiency OMIM:613985 LCRB 387281 HP:0002910 Elevated hepatic transaminases OMIM:613985 LCRB 387281 HP:0002857 Genu valgum OMIM:613985 LCRB 387281 HP:0001080 Biliary tract abnormality OMIM:613985 LCRB 387281 HP:0000078 Abnormality of the genital system OMIM:613985 LCRB 387281 HP:0001873 Thrombocytopenia OMIM:613985 LCRB 387281 HP:0002896 Neoplasm of the liver OMIM:613985 LCRB 387281 HP:0005280 Depressed nasal bridge OMIM:613985 LCRB 387281 HP:0003401 Paresthesia OMIM:613985 LCRB 387281 HP:0001744 Splenomegaly OMIM:613985 LCRB 387281 HP:0000505 Visual impairment OMIM:613985 LCRB 387281 HP:0011906 Reduced beta/alpha synthesis ratio OMIM:613985 LCRB 387281 HP:0001639 Hypertrophic cardiomyopathy OMIM:613985 LCRB 387281 HP:0000662 Night blindness OMIM:613985 LCRB 387281 HP:0001394 Cirrhosis OMIM:613985 LCRB 387281 HP:0000551 Abnormality of color vision OMIM:613985 LCRB 387281 HP:0200042 Skin ulcer OMIM:613985 LCRB 387281 HP:0005528 Bone marrow hypocellularity OMIM:613985 LCRB 387281 HP:0000980 Pallor OMIM:613985 LCRB 387281 HP:0000708 Behavioral abnormality OMIM:613985 LCRB 387281 HP:0000765 Abnormality of the thorax OMIM:613985 LCRB 387281 HP:0000582 Upslanted palpebral fissure OMIM:613985 LCRB 387281 HP:0000830 Anterior hypopituitarism OMIM:613985 LCRB 387281 HP:0011031 Abnormality of iron homeostasis OMIM:613985 LCRB 387281 HP:0002829 Arthralgia OMIM:613985 LCRB 387281 HP:0002024 Malabsorption OMIM:613985 LCRB 387281 HP:0004418 Thrombophlebitis OMIM:613985 LCRB 387281 HP:0002093 Respiratory insufficiency OMIM:613985 LCRB 387281 HP:0002092 Pulmonary hypertension OMIM:613985 LCRB 387281 HP:0004840 Hypochromic microcytic anemia OMIM:613985 LCRB 387281 HP:0000929 Abnormality of the skull OMIM:613985 HBB 3043 HP:0000164 Abnormality of the teeth OMIM:613985 HBB 3043 HP:0004370 Abnormality of temperature regulation OMIM:613985 HBB 3043 HP:0001971 Hypersplenism OMIM:613985 HBB 3043 HP:0001324 Muscle weakness OMIM:613985 HBB 3043 HP:0004349 Reduced bone mineral density OMIM:613985 HBB 3043 HP:0002652 Skeletal dysplasia OMIM:613985 HBB 3043 HP:0000518 Cataract OMIM:613985 HBB 3043 HP:0000829 Hypoparathyroidism OMIM:613985 HBB 3043 HP:0000821 Hypothyroidism OMIM:613985 HBB 3043 HP:0000365 Hearing impairment OMIM:613985 HBB 3043 HP:0000819 Diabetes mellitus OMIM:613985 HBB 3043 HP:0010620 Malar prominence OMIM:613985 HBB 3043 HP:0010472 Abnormality of the heme biosynthetic pathway OMIM:613985 HBB 3043 HP:0008872 Feeding difficulties in infancy OMIM:613985 HBB 3043 HP:0002240 Hepatomegaly OMIM:613985 HBB 3043 HP:0001645 Sudden cardiac death OMIM:613985 HBB 3043 HP:0008207 Primary adrenal insufficiency OMIM:613985 HBB 3043 HP:0002910 Elevated hepatic transaminases OMIM:613985 HBB 3043 HP:0002857 Genu valgum OMIM:613985 HBB 3043 HP:0001080 Biliary tract abnormality OMIM:613985 HBB 3043 HP:0000078 Abnormality of the genital system OMIM:613985 HBB 3043 HP:0001873 Thrombocytopenia OMIM:613985 HBB 3043 HP:0002896 Neoplasm of the liver OMIM:613985 HBB 3043 HP:0005280 Depressed nasal bridge OMIM:613985 HBB 3043 HP:0003401 Paresthesia OMIM:613985 HBB 3043 HP:0001744 Splenomegaly OMIM:613985 HBB 3043 HP:0000505 Visual impairment OMIM:613985 HBB 3043 HP:0011906 Reduced beta/alpha synthesis ratio OMIM:613985 HBB 3043 HP:0001639 Hypertrophic cardiomyopathy OMIM:613985 HBB 3043 HP:0000662 Night blindness OMIM:613985 HBB 3043 HP:0001394 Cirrhosis OMIM:613985 HBB 3043 HP:0000551 Abnormality of color vision OMIM:613985 HBB 3043 HP:0200042 Skin ulcer OMIM:613985 HBB 3043 HP:0005528 Bone marrow hypocellularity OMIM:613985 HBB 3043 HP:0000980 Pallor OMIM:613985 HBB 3043 HP:0000708 Behavioral abnormality OMIM:613985 HBB 3043 HP:0000765 Abnormality of the thorax OMIM:613985 HBB 3043 HP:0000582 Upslanted palpebral fissure OMIM:613985 HBB 3043 HP:0000830 Anterior hypopituitarism OMIM:613985 HBB 3043 HP:0011031 Abnormality of iron homeostasis OMIM:613985 HBB 3043 HP:0002829 Arthralgia OMIM:613985 HBB 3043 HP:0002024 Malabsorption OMIM:613985 HBB 3043 HP:0004418 Thrombophlebitis OMIM:613985 HBB 3043 HP:0002093 Respiratory insufficiency OMIM:613985 HBB 3043 HP:0002092 Pulmonary hypertension OMIM:613985 HBB 3043 HP:0004840 Hypochromic microcytic anemia OMIM:613985 HBB 3043 HP:0000929 Abnormality of the skull OMIM:260350 STK11 6794 HP:0002894 Neoplasm of the pancreas OMIM:260350 SMAD4 4089 HP:0002894 Neoplasm of the pancreas OMIM:260350 KRAS 3845 HP:0002894 Neoplasm of the pancreas OMIM:260350 TP53 7157 HP:0002894 Neoplasm of the pancreas OMIM:600791 KCNJ10 3766 HP:0011387 Enlarged vestibular aqueduct OMIM:600791 KCNJ10 3766 HP:0000007 Autosomal recessive inheritance OMIM:600791 KCNJ10 3766 HP:0000376 Incomplete partition of the cochlea type II OMIM:600791 KCNJ10 3766 HP:0000407 Sensorineural hearing impairment OMIM:600791 FOXI1 2299 HP:0011387 Enlarged vestibular aqueduct OMIM:600791 FOXI1 2299 HP:0000007 Autosomal recessive inheritance OMIM:600791 FOXI1 2299 HP:0000376 Incomplete partition of the cochlea type II OMIM:600791 FOXI1 2299 HP:0000407 Sensorineural hearing impairment OMIM:600791 SLC26A4 5172 HP:0011387 Enlarged vestibular aqueduct OMIM:600791 SLC26A4 5172 HP:0000007 Autosomal recessive inheritance OMIM:600791 SLC26A4 5172 HP:0000376 Incomplete partition of the cochlea type II OMIM:600791 SLC26A4 5172 HP:0000407 Sensorineural hearing impairment OMIM:218400 GJA1 2697 HP:0000280 Coarse facial features OMIM:218400 GJA1 2697 HP:0000316 Hypertelorism OMIM:218400 GJA1 2697 HP:0000431 Wide nasal bridge OMIM:218400 GJA1 2697 HP:0000506 Telecanthus OMIM:218400 GJA1 2697 HP:0005465 Facial hyperostosis OMIM:218400 GJA1 2697 HP:0004407 Bony paranasal bossing OMIM:218400 GJA1 2697 HP:0000007 Autosomal recessive inheritance OMIM:218400 GJA1 2697 HP:0000648 Optic atrophy OMIM:218400 GJA1 2697 HP:0100255 Metaphyseal dysplasia OMIM:218400 GJA1 2697 HP:0000303 Mandibular prognathia OMIM:218400 GJA1 2697 HP:0000410 Mixed hearing impairment OMIM:218400 GJA1 2697 HP:0006384 Club-shaped distal femur OMIM:218400 GJA1 2697 HP:0001742 Nasal obstruction OMIM:218400 GJA1 2697 HP:0010628 Facial palsy OMIM:218400 GJA1 2697 HP:0000765 Abnormality of the thorax OMIM:218400 GJA1 2697 HP:0000696 Delayed eruption of permanent teeth OMIM:218400 GJA1 2697 HP:0000256 Macrocephaly OMIM:218400 GJA1 2697 HP:0009772 Patchy sclerosis of finger phalanx OMIM:218400 GJA1 2697 HP:0001739 Abnormality of the nasopharynx OMIM:218400 GJA1 2697 HP:0003015 Flared metaphysis OMIM:218400 GJA1 2697 HP:0000187 Broad alveolar ridges OMIM:176400 KISS1R 84634 HP:0004322 Short stature OMIM:176400 KISS1R 84634 HP:0011969 Elevated luteinizing hormone OMIM:176400 KISS1R 84634 HP:0008232 Elevated follicle stimulating hormone OMIM:176400 KISS1R 84634 HP:0000006 Autosomal dominant inheritance OMIM:176400 KISS1R 84634 HP:0008236 Isosexual precocious puberty OMIM:176400 KISS1R 84634 HP:0000821 Hypothyroidism OMIM:155600 PTEN 5728 HP:0012056 Cutaneous melanoma OMIM:155600 PTEN 5728 HP:0001054 Numerous nevi OMIM:155600 PTEN 5728 HP:0007716 Intraocular melanoma OMIM:155600 PTEN 5728 HP:0001062 Atypical nevi (>5mm with irregular edge and pigmentation) OMIM:155600 PTEN 5728 HP:0000006 Autosomal dominant inheritance OMIM:155600 PTEN 5728 HP:0001074 Atypical nevi in non-sun exposed areas OMIM:155600 PTEN 5728 HP:0000478 Abnormality of the eye ORPHANET:93258 FGFR1 2260 HP:0000272 Malar flattening ORPHANET:93258 FGFR1 2260 HP:0009601 Aplasia/Hypoplasia of the thumb ORPHANET:93258 FGFR1 2260 HP:0001156 Brachydactyly syndrome ORPHANET:93258 FGFR1 2260 HP:0000520 Proptosis ORPHANET:93258 FGFR1 2260 HP:0001770 Toe syndactyly ORPHANET:93258 FGFR1 2260 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:93258 FGFR1 2260 HP:0001841 Preaxial foot polydactyly ORPHANET:93258 FGFR1 2260 HP:0002410 Aqueductal stenosis ORPHANET:93258 FGFR1 2260 HP:0010109 Short hallux ORPHANET:93258 FGFR1 2260 HP:0009602 Abnormality of thumb phalanx ORPHANET:93258 FGFR1 2260 HP:0000174 Abnormality of the palate ORPHANET:93258 FGFR1 2260 HP:0006101 Finger syndactyly ORPHANET:93258 FGFR1 2260 HP:0003196 Short nose ORPHANET:93258 FGFR1 2260 HP:0000316 Hypertelorism ORPHANET:93258 FGFR1 2260 HP:0000348 High forehead ORPHANET:93258 FGFR1 2260 HP:0002648 Abnormality of calvarial morphology ORPHANET:93258 FGFR1 2260 HP:0000365 Hearing impairment ORPHANET:93258 FGFR1 2260 HP:0005280 Depressed nasal bridge ORPHANET:93258 FGFR2 2263 HP:0000272 Malar flattening ORPHANET:93258 FGFR2 2263 HP:0009601 Aplasia/Hypoplasia of the thumb ORPHANET:93258 FGFR2 2263 HP:0001156 Brachydactyly syndrome ORPHANET:93258 FGFR2 2263 HP:0000520 Proptosis ORPHANET:93258 FGFR2 2263 HP:0001770 Toe syndactyly ORPHANET:93258 FGFR2 2263 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:93258 FGFR2 2263 HP:0001841 Preaxial foot polydactyly ORPHANET:93258 FGFR2 2263 HP:0002410 Aqueductal stenosis ORPHANET:93258 FGFR2 2263 HP:0010109 Short hallux ORPHANET:93258 FGFR2 2263 HP:0009602 Abnormality of thumb phalanx ORPHANET:93258 FGFR2 2263 HP:0000174 Abnormality of the palate ORPHANET:93258 FGFR2 2263 HP:0006101 Finger syndactyly ORPHANET:93258 FGFR2 2263 HP:0003196 Short nose ORPHANET:93258 FGFR2 2263 HP:0000316 Hypertelorism ORPHANET:93258 FGFR2 2263 HP:0000348 High forehead ORPHANET:93258 FGFR2 2263 HP:0002648 Abnormality of calvarial morphology ORPHANET:93258 FGFR2 2263 HP:0000365 Hearing impairment ORPHANET:93258 FGFR2 2263 HP:0005280 Depressed nasal bridge OMIM:614115 LAMC3 10319 HP:0000007 Autosomal recessive inheritance OMIM:614115 LAMC3 10319 HP:0001263 Global developmental delay OMIM:614115 LAMC3 10319 HP:0000572 Visual loss OMIM:614115 LAMC3 10319 HP:0002353 EEG abnormality OMIM:614115 LAMC3 10319 HP:0002069 Generalized tonic-clonic seizures OMIM:607734 NEFL 4747 HP:0001284 Areflexia OMIM:607734 NEFL 4747 HP:0003621 Juvenile onset OMIM:607734 NEFL 4747 HP:0001270 Motor delay OMIM:607734 NEFL 4747 HP:0000006 Autosomal dominant inheritance OMIM:607734 NEFL 4747 HP:0002936 Distal sensory impairment OMIM:607734 NEFL 4747 HP:0000007 Autosomal recessive inheritance OMIM:607734 NEFL 4747 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:607734 NEFL 4747 HP:0001761 Pes cavus OMIM:607734 NEFL 4747 HP:0003383 Onion bulb formation OMIM:607734 NEFL 4747 HP:0003431 Decreased motor nerve conduction velocity OMIM:607734 NEFL 4747 HP:0003481 Segmental peripheral demyelination/remyelination OMIM:607734 NEFL 4747 HP:0003828 Variable expressivity OMIM:607734 NEFL 4747 HP:0001265 Hyporeflexia OMIM:607734 NEFL 4747 HP:0003693 Distal amyotrophy OMIM:607734 NEFL 4747 HP:0007233 Clusters of axonal regeneration OMIM:607734 NEFL 4747 HP:0002460 Distal muscle weakness OMIM:607734 NEFL 4747 HP:0004336 Myelin outfoldings OMIM:102530 SPATA16 83893 HP:0012205 Globozoospermia OMIM:102530 SPATA16 83893 HP:0000789 Infertility OMIM:614369 MYH14 79784 HP:0003202 Skeletal muscle atrophy OMIM:614369 MYH14 79784 HP:0001324 Muscle weakness OMIM:614369 MYH14 79784 HP:0009830 Peripheral neuropathy OMIM:614369 MYH14 79784 HP:0001337 Tremor OMIM:614369 MYH14 79784 HP:0003676 Progressive disorder OMIM:614369 MYH14 79784 HP:0001284 Areflexia OMIM:614369 MYH14 79784 HP:0001265 Hyporeflexia OMIM:614369 MYH14 79784 HP:0001760 Abnormality of the foot OMIM:614369 MYH14 79784 HP:0000006 Autosomal dominant inheritance OMIM:614369 MYH14 79784 HP:0001609 Hoarse voice OMIM:614369 MYH14 79784 HP:0008180 Mildly elevated creatine phosphokinase OMIM:604416 PSTPIP1 9051 HP:0002716 Lymphadenopathy OMIM:604416 PSTPIP1 9051 HP:0200042 Skin ulcer OMIM:604416 PSTPIP1 9051 HP:0005528 Bone marrow hypocellularity OMIM:604416 PSTPIP1 9051 HP:0000006 Autosomal dominant inheritance OMIM:604416 PSTPIP1 9051 HP:0001376 Limitation of joint mobility OMIM:604416 PSTPIP1 9051 HP:0100651 Type I diabetes mellitus OMIM:604416 PSTPIP1 9051 HP:0000093 Proteinuria OMIM:604416 PSTPIP1 9051 HP:0001369 Arthritis OMIM:604416 PSTPIP1 9051 HP:0100838 Recurrent cutaneous abscess formation OMIM:604416 PSTPIP1 9051 HP:0001061 Acne OMIM:604416 PSTPIP1 9051 HP:0004370 Abnormality of temperature regulation OMIM:604416 PSTPIP1 9051 HP:0010701 Abnormal immunoglobulin level OMIM:604416 PSTPIP1 9051 HP:0200039 Pustule OMIM:604416 PSTPIP1 9051 HP:0002829 Arthralgia OMIM:604416 PSTPIP1 9051 HP:0002579 Gastrointestinal dysmotility OMIM:604416 PSTPIP1 9051 HP:0000999 Pyoderma OMIM:604416 PSTPIP1 9051 HP:0100614 Myositis OMIM:131750 COL7A1 1294 HP:0001056 Milia OMIM:131750 COL7A1 1294 HP:0001231 Abnormality of the fingernails OMIM:131750 COL7A1 1294 HP:0100825 Cheilitis OMIM:131750 COL7A1 1294 HP:0008404 Nail dystrophy OMIM:131750 COL7A1 1294 HP:0000006 Autosomal dominant inheritance OMIM:131750 COL7A1 1294 HP:0002164 Nail dysplasia OMIM:131750 COL7A1 1294 HP:0001053 Hypopigmented skin patches OMIM:131750 COL7A1 1294 HP:0008066 Abnormal blistering of the skin OMIM:131750 COL7A1 1294 HP:0001075 Atrophic scars OMIM:131750 COL7A1 1294 HP:0000670 Carious teeth OMIM:131750 COL7A1 1294 HP:0001903 Anemia OMIM:131750 COL7A1 1294 HP:0200020 Corneal erosion OMIM:131750 COL7A1 1294 HP:0000795 Abnormality of the urethra OMIM:131750 COL7A1 1294 HP:0002575 Tracheoesophageal fistula OMIM:131750 COL7A1 1294 HP:0003577 Congenital onset OMIM:131750 COL7A1 1294 HP:0012211 Abnormal renal physiology OMIM:131750 COL7A1 1294 HP:0008872 Feeding difficulties in infancy OMIM:131750 COL7A1 1294 HP:0008388 Abnormality of the toenails OMIM:300857 UBQLN2 29978 HP:0001260 Dysarthria OMIM:300857 UBQLN2 29978 HP:0002305 Athetosis OMIM:300857 UBQLN2 29978 HP:0002015 Dysphagia OMIM:300857 UBQLN2 29978 HP:0007354 Amyotrophic lateral sclerosis OMIM:300857 UBQLN2 29978 HP:0001332 Dystonia OMIM:300857 UBQLN2 29978 HP:0003581 Adult onset OMIM:300857 UBQLN2 29978 HP:0002145 Frontotemporal dementia OMIM:208050 SLC2A10 81031 HP:0000276 Long face OMIM:208050 SLC2A10 81031 HP:0000973 Cutis laxa OMIM:208050 SLC2A10 81031 HP:0002036 Hiatus hernia OMIM:208050 SLC2A10 81031 HP:0001977 Abnormal thrombosis OMIM:208050 SLC2A10 81031 HP:0000581 Blepharophimosis OMIM:208050 SLC2A10 81031 HP:0000007 Autosomal recessive inheritance OMIM:208050 SLC2A10 81031 HP:0001252 Muscular hypotonia OMIM:208050 SLC2A10 81031 HP:0002647 Aortic dissection OMIM:208050 SLC2A10 81031 HP:0000486 Strabismus OMIM:208050 SLC2A10 81031 HP:0003577 Congenital onset OMIM:208050 SLC2A10 81031 HP:0001714 Ventricular hypertrophy OMIM:208050 SLC2A10 81031 HP:0001388 Joint laxity OMIM:208050 SLC2A10 81031 HP:0003272 Abnormality of the hip bone OMIM:208050 SLC2A10 81031 HP:0001639 Hypertrophic cardiomyopathy OMIM:208050 SLC2A10 81031 HP:0002021 Pyloric stenosis OMIM:208050 SLC2A10 81031 HP:0005344 Abnormality of the carotid arteries OMIM:208050 SLC2A10 81031 HP:0000347 Micrognathia OMIM:208050 SLC2A10 81031 HP:0001650 Aortic valve stenosis OMIM:208050 SLC2A10 81031 HP:0000767 Pectus excavatum OMIM:208050 SLC2A10 81031 HP:0000316 Hypertelorism OMIM:208050 SLC2A10 81031 HP:0000400 Macrotia OMIM:208050 SLC2A10 81031 HP:0100689 Decreased corneal thickness OMIM:208050 SLC2A10 81031 HP:0004415 Pulmonary artery stenosis OMIM:208050 SLC2A10 81031 HP:0001249 Intellectual disability OMIM:208050 SLC2A10 81031 HP:0006687 Aortic tortuosity OMIM:208050 SLC2A10 81031 HP:0003196 Short nose OMIM:208050 SLC2A10 81031 HP:0000444 Convex nasal ridge OMIM:208050 SLC2A10 81031 HP:0004955 Generalized arterial tortuosity OMIM:208050 SLC2A10 81031 HP:0001635 Congestive heart failure OMIM:208050 SLC2A10 81031 HP:0002140 Ischemic stroke OMIM:208050 SLC2A10 81031 HP:0000545 Myopia OMIM:208050 SLC2A10 81031 HP:0001027 Soft, doughy skin OMIM:208050 SLC2A10 81031 HP:0001363 Craniosynostosis OMIM:208050 SLC2A10 81031 HP:0001166 Arachnodactyly OMIM:208050 SLC2A10 81031 HP:0001537 Umbilical hernia OMIM:208050 SLC2A10 81031 HP:0001645 Sudden cardiac death OMIM:208050 SLC2A10 81031 HP:0000822 Hypertension OMIM:208050 SLC2A10 81031 HP:0000343 Long philtrum OMIM:208050 SLC2A10 81031 HP:0001838 Rocker bottom foot OMIM:208050 SLC2A10 81031 HP:0000494 Downslanted palpebral fissures OMIM:208050 SLC2A10 81031 HP:0100585 Teleangiectasia of the skin OMIM:208050 SLC2A10 81031 HP:0004299 Hernia of the abdominal wall OMIM:208050 SLC2A10 81031 HP:0000963 Thin skin OMIM:208050 SLC2A10 81031 HP:0100543 Cognitive impairment OMIM:208050 SLC2A10 81031 HP:0002650 Scoliosis OMIM:208050 SLC2A10 81031 HP:0007421 Telangiectases of the cheeks OMIM:208050 SLC2A10 81031 HP:0005111 Dilatation of the ascending aorta OMIM:208050 SLC2A10 81031 HP:0002242 Abnormality of the intestine OMIM:208050 SLC2A10 81031 HP:0002617 Aneurysm OMIM:208050 SLC2A10 81031 HP:0001659 Aortic regurgitation OMIM:208050 SLC2A10 81031 HP:0007495 Prematurely aged appearance OMIM:208050 SLC2A10 81031 HP:0000202 Oral cleft OMIM:208050 SLC2A10 81031 HP:0010669 Cheekbone underdevelopment OMIM:208050 SLC2A10 81031 HP:0001382 Joint hypermobility OMIM:208050 SLC2A10 81031 HP:0000776 Congenital diaphragmatic hernia OMIM:208050 SLC2A10 81031 HP:0000978 Bruising susceptibility OMIM:208050 SLC2A10 81031 HP:0001371 Flexion contracture OMIM:208050 SLC2A10 81031 HP:0000563 Keratoconus OMIM:208050 SLC2A10 81031 HP:0004209 Clinodactyly of the 5th finger OMIM:208050 SLC2A10 81031 HP:0000023 Inguinal hernia OMIM:208050 SLC2A10 81031 HP:0002093 Respiratory insufficiency OMIM:208050 SLC2A10 81031 HP:0000768 Pectus carinatum OMIM:208050 SLC2A10 81031 HP:0000974 Hyperextensible skin OMIM:208050 SLC2A10 81031 HP:0000256 Macrocephaly OMIM:208050 SLC2A10 81031 HP:0000218 High palate OMIM:208050 SLC2A10 81031 HP:0001677 Coronary artery disease OMIM:610992 PSAT1 29968 HP:0001276 Hypertonia OMIM:610992 PSAT1 29968 HP:0001320 Cerebellar vermis hypoplasia OMIM:610992 PSAT1 29968 HP:0001263 Global developmental delay OMIM:610992 PSAT1 29968 HP:0001250 Seizures OMIM:610992 PSAT1 29968 HP:0005484 Postnatal microcephaly OMIM:610992 PSAT1 29968 HP:0003593 Infantile onset OMIM:610992 PSAT1 29968 HP:0000007 Autosomal recessive inheritance OMIM:610992 PSAT1 29968 HP:0008872 Feeding difficulties in infancy OMIM:610992 PSAT1 29968 HP:0012279 Hyposerinemia OMIM:610992 PSAT1 29968 HP:0012277 Hypoglycinemia OMIM:410000 AMELY 266 HP:0001450 Y-linked inheritance OMIM:410000 AMELY 266 HP:0000164 Abnormality of the teeth OMIM:614409 GBA2 57704 HP:0002166 Impaired vibration sensation in the lower limbs OMIM:614409 GBA2 57704 HP:0000365 Hearing impairment OMIM:614409 GBA2 57704 HP:0002064 Spastic gait OMIM:614409 GBA2 57704 HP:0007340 Lower limb muscle weakness OMIM:614409 GBA2 57704 HP:0001260 Dysarthria OMIM:614409 GBA2 57704 HP:0002079 Hypoplasia of the corpus callosum OMIM:614409 GBA2 57704 HP:0000639 Nystagmus OMIM:614409 GBA2 57704 HP:0003677 Slow progression OMIM:614409 GBA2 57704 HP:0000726 Dementia OMIM:614409 GBA2 57704 HP:0000007 Autosomal recessive inheritance OMIM:614409 GBA2 57704 HP:0002059 Cerebral atrophy OMIM:614409 GBA2 57704 HP:0000518 Cataract OMIM:614409 GBA2 57704 HP:0000020 Urinary incontinence OMIM:614409 GBA2 57704 HP:0006986 Upper limb spasticity OMIM:614409 GBA2 57704 HP:0002346 Head tremor OMIM:614409 GBA2 57704 HP:0002406 Limb dysmetria OMIM:614409 GBA2 57704 HP:0000789 Infertility OMIM:614409 GBA2 57704 HP:0003676 Progressive disorder OMIM:614409 GBA2 57704 HP:0001761 Pes cavus OMIM:614409 GBA2 57704 HP:0011448 Ankle clonus OMIM:614409 GBA2 57704 HP:0002808 Kyphosis OMIM:614409 GBA2 57704 HP:0003487 Babinski sign OMIM:614409 GBA2 57704 HP:0002650 Scoliosis OMIM:614409 GBA2 57704 HP:0001272 Cerebellar atrophy OMIM:614409 GBA2 57704 HP:0001258 Spastic paraplegia OMIM:614409 GBA2 57704 HP:0011449 Knee clonus OMIM:614409 GBA2 57704 HP:0008003 Jerky ocular pursuit movements OMIM:613721 SCN2A 6326 HP:0000006 Autosomal dominant inheritance OMIM:613721 SCN2A 6326 HP:0001263 Global developmental delay OMIM:613721 SCN2A 6326 HP:0002069 Generalized tonic-clonic seizures OMIM:613721 SCN2A 6326 HP:0003828 Variable expressivity OMIM:613721 SCN2A 6326 HP:0003593 Infantile onset OMIM:613721 SCN2A 6326 HP:0002510 Spastic tetraplegia OMIM:613721 SCN2A 6326 HP:0002133 Status epilepticus OMIM:613721 SCN2A 6326 HP:0200134 Epileptic encephalopathy OMIM:615145 TENM3 55714 HP:0000505 Visual impairment OMIM:615145 TENM3 55714 HP:0000612 Iris coloboma OMIM:615145 TENM3 55714 HP:0000007 Autosomal recessive inheritance OMIM:615145 TENM3 55714 HP:0000568 Microphthalmos OMIM:615145 TENM3 55714 HP:0000482 Microcornea OMIM:216820 SALL2 6297 HP:0000565 Esotropia OMIM:216820 SALL2 6297 HP:0000577 Exotropia OMIM:216820 SALL2 6297 HP:0000505 Visual impairment OMIM:216820 SALL2 6297 HP:0001132 Lens subluxation OMIM:216820 SALL2 6297 HP:0000589 Coloboma OMIM:609404 STOX1 219736 HP:0100602 Preeclampsia OMIM:609404 STOX1 219736 HP:0100601 Eclampsia OMIM:609404 STOX1 219736 HP:0010982 Polygenic inheritance OMIM:256550 NEU1 4758 HP:0004322 Short stature OMIM:256550 NEU1 4758 HP:0000529 Progressive visual loss OMIM:256550 NEU1 4758 HP:0012061 Urinary excretion of sialylated oligosaccharides OMIM:256550 NEU1 4758 HP:0003461 Increased urinary O-linked sialopeptides OMIM:256550 NEU1 4758 HP:0010655 Epiphyseal stippling OMIM:256550 NEU1 4758 HP:0001541 Ascites OMIM:256550 NEU1 4758 HP:0001249 Intellectual disability OMIM:256550 NEU1 4758 HP:0000768 Pectus carinatum OMIM:256550 NEU1 4758 HP:0100543 Cognitive impairment OMIM:256550 NEU1 4758 HP:0001640 Cardiomegaly OMIM:256550 NEU1 4758 HP:0001310 Dysmetria OMIM:256550 NEU1 4758 HP:0002167 Neurological speech impairment OMIM:256550 NEU1 4758 HP:0000488 Retinopathy OMIM:256550 NEU1 4758 HP:0000639 Nystagmus OMIM:256550 NEU1 4758 HP:0001638 Cardiomyopathy OMIM:256550 NEU1 4758 HP:0002240 Hepatomegaly OMIM:256550 NEU1 4758 HP:0001252 Muscular hypotonia OMIM:256550 NEU1 4758 HP:0003202 Skeletal muscle atrophy OMIM:256550 NEU1 4758 HP:0000943 Dysostosis multiplex OMIM:256550 NEU1 4758 HP:0001744 Splenomegaly OMIM:256550 NEU1 4758 HP:0002750 Delayed skeletal maturation OMIM:256550 NEU1 4758 HP:0007759 Opacification of the corneal stroma OMIM:256550 NEU1 4758 HP:0000505 Visual impairment OMIM:256550 NEU1 4758 HP:0001250 Seizures OMIM:256550 NEU1 4758 HP:0001350 Slurred speech OMIM:256550 NEU1 4758 HP:0000007 Autosomal recessive inheritance OMIM:256550 NEU1 4758 HP:0002011 Morphological abnormality of the central nervous system OMIM:256550 NEU1 4758 HP:0000962 Hyperkeratosis OMIM:256550 NEU1 4758 HP:0001336 Myoclonus OMIM:256550 NEU1 4758 HP:0000407 Sensorineural hearing impairment OMIM:256550 NEU1 4758 HP:0002652 Skeletal dysplasia OMIM:256550 NEU1 4758 HP:0010306 Short thorax OMIM:256550 NEU1 4758 HP:0000179 Thick lower lip vermilion OMIM:256550 NEU1 4758 HP:0002650 Scoliosis OMIM:256550 NEU1 4758 HP:0001288 Gait disturbance OMIM:256550 NEU1 4758 HP:0003355 Aminoaciduria OMIM:256550 NEU1 4758 HP:0002311 Incoordination OMIM:256550 NEU1 4758 HP:0001337 Tremor OMIM:256550 NEU1 4758 HP:0000431 Wide nasal bridge OMIM:256550 NEU1 4758 HP:0001324 Muscle weakness OMIM:256550 NEU1 4758 HP:0000762 Decreased nerve conduction velocity OMIM:256550 NEU1 4758 HP:0000518 Cataract OMIM:256550 NEU1 4758 HP:0002353 EEG abnormality OMIM:256550 NEU1 4758 HP:0000280 Coarse facial features OMIM:256550 NEU1 4758 HP:0002808 Kyphosis OMIM:256550 NEU1 4758 HP:0100790 Hernia OMIM:256550 NEU1 4758 HP:0001789 Hydrops fetalis OMIM:256550 NEU1 4758 HP:0000282 Facial edema OMIM:256550 NEU1 4758 HP:0001103 Abnormality of the macula OMIM:256550 NEU1 4758 HP:0001922 Vacuolated lymphocytes OMIM:256550 NEU1 4758 HP:0010729 Cherry red spot of the macula OMIM:256550 NEU1 4758 HP:0000093 Proteinuria OMIM:256550 NEU1 4758 HP:0003312 Abnormal form of the vertebral bodies OMIM:256550 NEU1 4758 HP:0001347 Hyperreflexia OMIM:256550 NEU1 4758 HP:0002007 Frontal bossing OMIM:256550 NEU1 4758 HP:0004333 Bone-marrow foam cells OMIM:256550 NEU1 4758 HP:0000023 Inguinal hernia OMIM:183090 ATXN2 6311 HP:0002070 Limb ataxia OMIM:183090 ATXN2 6311 HP:0001260 Dysarthria OMIM:183090 ATXN2 6311 HP:0002839 Urinary bladder sphincter dysfunction OMIM:183090 ATXN2 6311 HP:0000726 Dementia OMIM:183090 ATXN2 6311 HP:0002067 Bradykinesia OMIM:183090 ATXN2 6311 HP:0002503 Spinocerebellar tract degeneration OMIM:183090 ATXN2 6311 HP:0002015 Dysphagia OMIM:183090 ATXN2 6311 HP:0000657 Oculomotor apraxia OMIM:183090 ATXN2 6311 HP:0001265 Hyporeflexia OMIM:183090 ATXN2 6311 HP:0002073 Progressive cerebellar ataxia OMIM:183090 ATXN2 6311 HP:0000641 Dysmetric saccades OMIM:183090 ATXN2 6311 HP:0001336 Myoclonus OMIM:183090 ATXN2 6311 HP:0003743 Genetic anticipation OMIM:183090 ATXN2 6311 HP:0000640 Gaze-evoked nystagmus OMIM:183090 ATXN2 6311 HP:0000006 Autosomal dominant inheritance OMIM:183090 ATXN2 6311 HP:0002542 Olivopontocerebellar atrophy OMIM:183090 ATXN2 6311 HP:0002380 Fasciculations OMIM:183090 ATXN2 6311 HP:0001252 Muscular hypotonia OMIM:183090 ATXN2 6311 HP:0000602 Ophthalmoplegia OMIM:183090 ATXN2 6311 HP:0002063 Rigidity OMIM:183090 ATXN2 6311 HP:0002174 Postural tremor OMIM:183090 ATXN2 6311 HP:0000514 Slow saccadic eye movements OMIM:183090 ATXN2 6311 HP:0002075 Dysdiadochokinesis OMIM:183090 ATXN2 6311 HP:0003693 Distal amyotrophy OMIM:183090 ATXN2 6311 HP:0001151 Impaired horizontal smooth pursuit OMIM:183090 ATXN2 6311 HP:0002198 Dilated fourth ventricle OMIM:183090 ATXN2 6311 HP:0000510 Retinitis pigmentosa OMIM:183090 ATXN2 6311 HP:0001310 Dysmetria OMIM:183090 ATXN2 6311 HP:0002495 Impaired vibratory sensation OMIM:183090 ATXN2 6311 HP:0002172 Postural instability OMIM:183090 ATXN2 6311 HP:0001257 Spasticity OMIM:314390 ZIC3 7547 HP:0005792 Short humerus OMIM:314390 ZIC3 7547 HP:0002564 Malformation of the heart and great vessels OMIM:314390 ZIC3 7547 HP:0009623 Proximal placement of thumb OMIM:314390 ZIC3 7547 HP:0000126 Hydronephrosis OMIM:314390 ZIC3 7547 HP:0000068 Urethral atresia OMIM:314390 ZIC3 7547 HP:0000238 Hydrocephalus OMIM:314390 ZIC3 7547 HP:0003468 Abnormality of the vertebrae OMIM:314390 ZIC3 7547 HP:0002575 Tracheoesophageal fistula OMIM:314390 ZIC3 7547 HP:0001161 Hand polydactyly OMIM:314390 ZIC3 7547 HP:0002023 Anal atresia OMIM:314390 ZIC3 7547 HP:0003974 Absent radius OMIM:224230 NOP10 55505 HP:0005528 Bone marrow hypocellularity OMIM:224230 NOP10 55505 HP:0002206 Pulmonary fibrosis OMIM:224230 NOP10 55505 HP:0000939 Osteoporosis OMIM:224230 NOP10 55505 HP:0000953 Hyperpigmentation of the skin OMIM:224230 NOP10 55505 HP:0001395 Hepatic fibrosis OMIM:224230 NOP10 55505 HP:0000691 Microdontia OMIM:224230 NOP10 55505 HP:0000252 Microcephaly OMIM:224230 NOP10 55505 HP:0000670 Carious teeth OMIM:224230 NOP10 55505 HP:0002165 Pterygium formation (nails) OMIM:224230 NOP10 55505 HP:0002164 Nail dysplasia OMIM:224230 NOP10 55505 HP:0002043 Esophageal stricture OMIM:224230 NOP10 55505 HP:0009926 Increased lacrimation OMIM:224230 NOP10 55505 HP:0002745 Oral leukoplakia OMIM:224230 NOP10 55505 HP:0000007 Autosomal recessive inheritance OMIM:224230 NOP10 55505 HP:0000653 Sparse eyelashes OMIM:224230 NOP10 55505 HP:0001792 Small nail OMIM:224230 NOP10 55505 HP:0002209 Sparse scalp hair OMIM:224230 NOP10 55505 HP:0000579 Nasolacrimal duct obstruction OMIM:224230 NOP10 55505 HP:0001249 Intellectual disability OMIM:224230 NOP10 55505 HP:0001873 Thrombocytopenia OMIM:224230 NOP10 55505 HP:0003812 Phenotypic variability OMIM:224230 NOP10 55505 HP:0001915 Aplastic anemia OMIM:613123 HCN4 10021 HP:0012251 ST segment elevation OMIM:613123 HCN4 10021 HP:0004756 Ventricular tachycardia OMIM:270420 SPINT2 10653 HP:0000453 Choanal atresia OMIM:270420 SPINT2 10653 HP:0000588 Optic nerve coloboma OMIM:270420 SPINT2 10653 HP:0003270 Abdominal distention OMIM:270420 SPINT2 10653 HP:0200020 Corneal erosion OMIM:270420 SPINT2 10653 HP:0001939 Abnormality of metabolism/homeostasis OMIM:270420 SPINT2 10653 HP:0000256 Macrocephaly OMIM:270420 SPINT2 10653 HP:0005208 Secretory diarrhea OMIM:270420 SPINT2 10653 HP:0000143 Rectovaginal fistula OMIM:270420 SPINT2 10653 HP:0000073 Ureteral duplication OMIM:270420 SPINT2 10653 HP:0000369 Low-set ears OMIM:270420 SPINT2 10653 HP:0002023 Anal atresia OMIM:270420 SPINT2 10653 HP:0000007 Autosomal recessive inheritance OMIM:270420 SPINT2 10653 HP:0002566 Intestinal malrotation OMIM:270420 SPINT2 10653 HP:0000316 Hypertelorism OMIM:270420 SPINT2 10653 HP:0001561 Polyhydramnios OMIM:600363 NIPA1 123606 HP:0001337 Tremor OMIM:600363 NIPA1 123606 HP:0001250 Seizures OMIM:600363 NIPA1 123606 HP:0002064 Spastic gait OMIM:600363 NIPA1 123606 HP:0001258 Spastic paraplegia OMIM:600363 NIPA1 123606 HP:0002061 Lower limb spasticity OMIM:600363 NIPA1 123606 HP:0000012 Urinary urgency OMIM:600363 NIPA1 123606 HP:0002314 Degeneration of the lateral corticospinal tracts OMIM:600363 NIPA1 123606 HP:0002169 Clonus OMIM:600363 NIPA1 123606 HP:0003487 Babinski sign OMIM:600363 NIPA1 123606 HP:0000006 Autosomal dominant inheritance OMIM:600363 NIPA1 123606 HP:0002166 Impaired vibration sensation in the lower limbs OMIM:600363 NIPA1 123606 HP:0007340 Lower limb muscle weakness OMIM:600363 NIPA1 123606 HP:0003676 Progressive disorder OMIM:600363 NIPA1 123606 HP:0000020 Urinary incontinence OMIM:600363 NIPA1 123606 HP:0001761 Pes cavus OMIM:600363 NIPA1 123606 HP:0003587 Insidious onset OMIM:600363 NIPA1 123606 HP:0002839 Urinary bladder sphincter dysfunction OMIM:600363 NIPA1 123606 HP:0003828 Variable expressivity OMIM:609192 TGFBR1 7046 HP:0005182 Bicuspid pulmonary valve OMIM:609192 TGFBR1 7046 HP:0001263 Global developmental delay OMIM:609192 TGFBR1 7046 HP:0004933 Ascending aortic dissection OMIM:609192 TGFBR1 7046 HP:0000347 Micrognathia OMIM:609192 TGFBR1 7046 HP:0001643 Patent ductus arteriosus OMIM:609192 TGFBR1 7046 HP:0004944 Cerebral aneurysm OMIM:609192 TGFBR1 7046 HP:0000238 Hydrocephalus OMIM:609192 TGFBR1 7046 HP:0000175 Cleft palate OMIM:609192 TGFBR1 7046 HP:0001249 Intellectual disability OMIM:609192 TGFBR1 7046 HP:0001631 Defect in the atrial septum OMIM:609192 TGFBR1 7046 HP:0001762 Talipes equinovarus OMIM:609192 TGFBR1 7046 HP:0001634 Mitral valve prolapse OMIM:609192 TGFBR1 7046 HP:0002308 Arnold-Chiari malformation OMIM:609192 TGFBR1 7046 HP:0004937 Pulmonary artery aneurysm OMIM:609192 TGFBR1 7046 HP:0001388 Joint laxity OMIM:609192 TGFBR1 7046 HP:0000592 Blue sclerae OMIM:609192 TGFBR1 7046 HP:0002631 Ascending aortic aneurysm OMIM:609192 TGFBR1 7046 HP:0000766 Abnormality of the sternum OMIM:609192 TGFBR1 7046 HP:0009473 Joint contracture of the hand OMIM:609192 TGFBR1 7046 HP:0001647 Bicuspid aortic valve OMIM:609192 TGFBR1 7046 HP:0000278 Retrognathia OMIM:609192 TGFBR1 7046 HP:0002650 Scoliosis OMIM:609192 TGFBR1 7046 HP:0001425 Heterogeneous OMIM:609192 TGFBR1 7046 HP:0000316 Hypertelorism OMIM:609192 TGFBR1 7046 HP:0000520 Proptosis OMIM:609192 TGFBR1 7046 HP:0001166 Arachnodactyly OMIM:609192 TGFBR1 7046 HP:0012385 Camptodactyly OMIM:609192 TGFBR1 7046 HP:0001363 Craniosynostosis OMIM:609192 TGFBR1 7046 HP:0010648 Dermal translucency OMIM:609192 TGFBR1 7046 HP:0000977 Soft skin OMIM:609192 TGFBR1 7046 HP:0001519 Disproportionate tall stature OMIM:609192 TGFBR1 7046 HP:0000577 Exotropia OMIM:609192 TGFBR1 7046 HP:0001162 Postaxial hand polydactyly OMIM:609192 TGFBR1 7046 HP:0004955 Generalized arterial tortuosity OMIM:609192 TGFBR1 7046 HP:0000006 Autosomal dominant inheritance OMIM:609192 TGFBR1 7046 HP:0004954 Descending aortic aneurysm OMIM:609192 TGFBR1 7046 HP:0000272 Malar flattening OMIM:609192 TGFBR1 7046 HP:0000193 Bifid uvula OMIM:613807 CCDC39 339829 HP:0012258 Abnormal axonemal organization of respiratory motile cilia OMIM:613807 CCDC39 339829 HP:0000007 Autosomal recessive inheritance OMIM:613807 CCDC39 339829 HP:0000388 Otitis media OMIM:613807 CCDC39 339829 HP:0012257 Absent inner dynein arms OMIM:613807 CCDC39 339829 HP:0002110 Bronchiectasis OMIM:613807 CCDC39 339829 HP:0012265 Ciliary dyskinesia OMIM:613807 CCDC39 339829 HP:0001696 Situs inversus totalis OMIM:613807 CCDC39 339829 HP:0000789 Infertility OMIM:613807 CCDC39 339829 HP:0001748 Polysplenia OMIM:613807 CCDC39 339829 HP:0012262 Abnormal ciliary motility OMIM:613807 CCDC39 339829 HP:0011109 Chronic sinusitis OMIM:613807 CCDC39 339829 HP:0002205 Recurrent respiratory infections OMIM:312760 RPS4X 6191 HP:0001417 X-linked inheritance OMIM:615028 EXPH5 23086 HP:0001030 Fragile skin OMIM:615028 EXPH5 23086 HP:0000007 Autosomal recessive inheritance OMIM:615028 EXPH5 23086 HP:0000962 Hyperkeratosis ORPHANET:100 ATM 472 HP:0005978 Type II diabetes mellitus ORPHANET:100 ATM 472 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:100 ATM 472 HP:0002216 Premature graying of hair ORPHANET:100 ATM 472 HP:0001288 Gait disturbance ORPHANET:100 ATM 472 HP:0002205 Recurrent respiratory infections ORPHANET:100 ATM 472 HP:0002167 Neurological speech impairment ORPHANET:100 ATM 472 HP:0005599 Hypopigmentation of hair ORPHANET:100 ATM 472 HP:0003202 Skeletal muscle atrophy ORPHANET:100 ATM 472 HP:0004322 Short stature ORPHANET:100 ATM 472 HP:0001337 Tremor ORPHANET:100 ATM 472 HP:0001276 Hypertonia ORPHANET:100 ATM 472 HP:0001250 Seizures ORPHANET:100 ATM 472 HP:0000147 Polycystic ovaries ORPHANET:100 ATM 472 HP:0000035 Abnormality of the testis ORPHANET:100 ATM 472 HP:0010515 Aplasia/Hypoplasia of the thymus ORPHANET:100 ATM 472 HP:0100579 Mucosal telangiectasiae ORPHANET:100 ATM 472 HP:0003220 Abnormality of chromosome stability ORPHANET:100 ATM 472 HP:0100543 Cognitive impairment ORPHANET:100 ATM 472 HP:0002311 Incoordination ORPHANET:100 ATM 472 HP:0002664 Neoplasm ORPHANET:100 ATM 472 HP:0004313 Hypogammaglobulinemia ORPHANET:100 ATM 472 HP:0100585 Teleangiectasia of the skin ORPHANET:100 ATM 472 HP:0000486 Strabismus ORPHANET:100 ATM 472 HP:0005374 Cellular immunodeficiency ORPHANET:100 ATM 472 HP:0000639 Nystagmus ORPHANET:100 ATM 472 HP:0002910 Elevated hepatic transaminases ORPHANET:100 ATM 472 HP:0000957 Cafe-au-lait spot ORPHANET:100 ATM 472 HP:0001888 Lymphopenia OMIM:133200 GJB4 127534 HP:0001824 Weight loss OMIM:133200 GJB4 127534 HP:0000958 Dry skin OMIM:133200 GJB4 127534 HP:0010783 Erythema OMIM:133200 GJB4 127534 HP:0005588 Patchy palmoplantar keratoderma OMIM:133200 GJB4 127534 HP:0001376 Limitation of joint mobility OMIM:133200 GJB4 127534 HP:0001596 Alopecia OMIM:133200 GJB4 127534 HP:0008066 Abnormal blistering of the skin OMIM:133200 GJB4 127534 HP:0001182 Tapered finger OMIM:133200 GJB4 127534 HP:0001034 Hypermelanotic macule OMIM:133200 GJB4 127534 HP:0000518 Cataract OMIM:133200 GJB4 127534 HP:0002564 Malformation of the heart and great vessels OMIM:133200 GJB4 127534 HP:0000377 Abnormality of the pinna OMIM:133200 GJB4 127534 HP:0000006 Autosomal dominant inheritance OMIM:133200 GJB4 127534 HP:0100543 Cognitive impairment OMIM:133200 GJB4 127534 HP:0000035 Abnormality of the testis OMIM:133200 GJB4 127534 HP:0001131 Corneal dystrophy OMIM:133200 GJB4 127534 HP:0005595 Generalized hyperkeratosis OMIM:133200 GJB4 127534 HP:0000252 Microcephaly OMIM:133200 GJB4 127534 HP:0007759 Opacification of the corneal stroma OMIM:133200 GJB4 127534 HP:0000975 Hyperhidrosis OMIM:133200 GJB4 127534 HP:0000992 Cutaneous photosensitivity OMIM:133200 GJB4 127534 HP:0000819 Diabetes mellitus OMIM:133200 GJB4 127534 HP:0001231 Abnormality of the fingernails OMIM:133200 GJB4 127534 HP:0003593 Infantile onset OMIM:133200 GJB4 127534 HP:0000501 Glaucoma OMIM:133200 GJB4 127534 HP:0001156 Brachydactyly syndrome OMIM:133200 GJB4 127534 HP:0000988 Skin rash OMIM:133200 GJB4 127534 HP:0000365 Hearing impairment OMIM:133200 GJB4 127534 HP:0000007 Autosomal recessive inheritance OMIM:133200 GJB4 127534 HP:0004322 Short stature OMIM:133200 GJB4 127534 HP:0008069 Neoplasm of the skin OMIM:133200 GJB4 127534 HP:0000998 Hypertrichosis OMIM:133200 GJB3 2707 HP:0001824 Weight loss OMIM:133200 GJB3 2707 HP:0000958 Dry skin OMIM:133200 GJB3 2707 HP:0010783 Erythema OMIM:133200 GJB3 2707 HP:0005588 Patchy palmoplantar keratoderma OMIM:133200 GJB3 2707 HP:0001376 Limitation of joint mobility OMIM:133200 GJB3 2707 HP:0001596 Alopecia OMIM:133200 GJB3 2707 HP:0008066 Abnormal blistering of the skin OMIM:133200 GJB3 2707 HP:0001182 Tapered finger OMIM:133200 GJB3 2707 HP:0001034 Hypermelanotic macule OMIM:133200 GJB3 2707 HP:0000518 Cataract OMIM:133200 GJB3 2707 HP:0002564 Malformation of the heart and great vessels OMIM:133200 GJB3 2707 HP:0000377 Abnormality of the pinna OMIM:133200 GJB3 2707 HP:0000006 Autosomal dominant inheritance OMIM:133200 GJB3 2707 HP:0100543 Cognitive impairment OMIM:133200 GJB3 2707 HP:0000035 Abnormality of the testis OMIM:133200 GJB3 2707 HP:0001131 Corneal dystrophy OMIM:133200 GJB3 2707 HP:0005595 Generalized hyperkeratosis OMIM:133200 GJB3 2707 HP:0000252 Microcephaly OMIM:133200 GJB3 2707 HP:0007759 Opacification of the corneal stroma OMIM:133200 GJB3 2707 HP:0000975 Hyperhidrosis OMIM:133200 GJB3 2707 HP:0000992 Cutaneous photosensitivity OMIM:133200 GJB3 2707 HP:0000819 Diabetes mellitus OMIM:133200 GJB3 2707 HP:0001231 Abnormality of the fingernails OMIM:133200 GJB3 2707 HP:0003593 Infantile onset OMIM:133200 GJB3 2707 HP:0000501 Glaucoma OMIM:133200 GJB3 2707 HP:0001156 Brachydactyly syndrome OMIM:133200 GJB3 2707 HP:0000988 Skin rash OMIM:133200 GJB3 2707 HP:0000365 Hearing impairment OMIM:133200 GJB3 2707 HP:0000007 Autosomal recessive inheritance OMIM:133200 GJB3 2707 HP:0004322 Short stature OMIM:133200 GJB3 2707 HP:0008069 Neoplasm of the skin OMIM:133200 GJB3 2707 HP:0000998 Hypertrichosis OMIM:263750 DHODH 1723 HP:0000494 Downslanted palpebral fissures OMIM:263750 DHODH 1723 HP:0000767 Pectus excavatum OMIM:263750 DHODH 1723 HP:0007477 Abnormal dermatoglyphics OMIM:263750 DHODH 1723 HP:0100490 Camptodactyly of finger OMIM:263750 DHODH 1723 HP:0000077 Abnormality of the kidney OMIM:263750 DHODH 1723 HP:0000698 Conical tooth OMIM:263750 DHODH 1723 HP:0000405 Conductive hearing impairment OMIM:263750 DHODH 1723 HP:0000007 Autosomal recessive inheritance OMIM:263750 DHODH 1723 HP:0000028 Cryptorchidism OMIM:263750 DHODH 1723 HP:0006101 Finger syndactyly OMIM:263750 DHODH 1723 HP:0005211 Midgut malrotation OMIM:263750 DHODH 1723 HP:0002564 Malformation of the heart and great vessels OMIM:263750 DHODH 1723 HP:0000656 Ectropion OMIM:263750 DHODH 1723 HP:0000368 Low-set, posteriorly rotated ears OMIM:263750 DHODH 1723 HP:0002946 Supernumerary vertebrae OMIM:263750 DHODH 1723 HP:0010669 Cheekbone underdevelopment OMIM:263750 DHODH 1723 HP:0000347 Micrognathia OMIM:263750 DHODH 1723 HP:0000453 Choanal atresia OMIM:263750 DHODH 1723 HP:0001159 Syndactyly OMIM:263750 DHODH 1723 HP:0000625 Cleft eyelid OMIM:263750 DHODH 1723 HP:0100335 Non-midline cleft lip OMIM:263750 DHODH 1723 HP:0002984 Hypoplasia of the radius OMIM:263750 DHODH 1723 HP:0000369 Low-set ears OMIM:263750 DHODH 1723 HP:0008897 Postnatal growth retardation OMIM:263750 DHODH 1723 HP:0000378 Cupped ear OMIM:263750 DHODH 1723 HP:0000486 Strabismus OMIM:263750 DHODH 1723 HP:0002558 Supernumerary nipple OMIM:263750 DHODH 1723 HP:0000272 Malar flattening OMIM:263750 DHODH 1723 HP:0002974 Radioulnar synostosis OMIM:263750 DHODH 1723 HP:0002997 Abnormality of the ulna OMIM:263750 DHODH 1723 HP:0001760 Abnormality of the foot OMIM:263750 DHODH 1723 HP:0002021 Pyloric stenosis OMIM:263750 DHODH 1723 HP:0000175 Cleft palate OMIM:263750 DHODH 1723 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:263750 DHODH 1723 HP:0009778 Short thumb OMIM:263750 DHODH 1723 HP:0001374 Congenital hip dislocation OMIM:263750 DHODH 1723 HP:0000204 Cleft upper lip OMIM:263750 DHODH 1723 HP:0003022 Hypoplasia of the ulna OMIM:263750 DHODH 1723 HP:0000054 Micropenis OMIM:615617 CD3D 915 HP:0003593 Infantile onset OMIM:615617 CD3D 915 HP:0000007 Autosomal recessive inheritance OMIM:615617 CD3D 915 HP:0002721 Immunodeficiency OMIM:615617 CD3D 915 HP:0001888 Lymphopenia OMIM:615617 CD3D 915 HP:0001508 Failure to thrive OMIM:615617 CD3D 915 HP:0002205 Recurrent respiratory infections OMIM:615617 CD3D 915 HP:0002014 Diarrhea OMIM:615617 CD3D 915 HP:0000403 Recurrent otitis media OMIM:102900 PKLR 5313 HP:0001901 Polycythemia OMIM:102900 PKLR 5313 HP:0030271 Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900 PKLR 5313 HP:0000006 Autosomal dominant inheritance OMIM:602390 HFE2 148738 HP:0011462 Young adult onset OMIM:602390 HFE2 148738 HP:0000044 Hypogonadotrophic hypogonadism OMIM:602390 HFE2 148738 HP:0001638 Cardiomyopathy OMIM:602390 HFE2 148738 HP:0003281 Increased serum ferritin OMIM:602390 HFE2 148738 HP:0002240 Hepatomegaly OMIM:602390 HFE2 148738 HP:0001394 Cirrhosis OMIM:602390 HFE2 148738 HP:0000007 Autosomal recessive inheritance OMIM:602390 HFE2 148738 HP:0003452 Increased serum iron OMIM:602390 HFE2 148738 HP:0000953 Hyperpigmentation of the skin OMIM:182900 ANK1 286 HP:0002904 Hyperbilirubinemia OMIM:182900 ANK1 286 HP:0004444 Spherocytosis OMIM:182900 ANK1 286 HP:0000952 Jaundice OMIM:182900 ANK1 286 HP:0001081 Cholelithiasis OMIM:182900 ANK1 286 HP:0000006 Autosomal dominant inheritance OMIM:182900 ANK1 286 HP:0001923 Reticulocytosis OMIM:182900 ANK1 286 HP:0001744 Splenomegaly OMIM:182900 ANK1 286 HP:0001878 Hemolytic anemia OMIM:614921 PGM1 5236 HP:0003642 Type I transferrin isoform profile OMIM:614921 PGM1 5236 HP:0000193 Bifid uvula OMIM:614921 PGM1 5236 HP:0000201 Pierre-Robin sequence OMIM:614921 PGM1 5236 HP:0003201 Rhabdomyolysis OMIM:614921 PGM1 5236 HP:0002094 Dyspnea OMIM:614921 PGM1 5236 HP:0012378 Fatigue OMIM:614921 PGM1 5236 HP:0001943 Hypoglycemia OMIM:614921 PGM1 5236 HP:0001976 Reduced antithrombin III activity OMIM:614921 PGM1 5236 HP:0003546 Exercise intolerance OMIM:614921 PGM1 5236 HP:0000347 Micrognathia OMIM:614921 PGM1 5236 HP:0001324 Muscle weakness OMIM:614921 PGM1 5236 HP:0004322 Short stature OMIM:614921 PGM1 5236 HP:0001644 Dilated cardiomyopathy OMIM:614921 PGM1 5236 HP:0000175 Cleft palate OMIM:614921 PGM1 5236 HP:0000007 Autosomal recessive inheritance OMIM:614921 PGM1 5236 HP:0001397 Hepatic steatosis OMIM:614921 PGM1 5236 HP:0002910 Elevated hepatic transaminases OMIM:614921 PGM1 5236 HP:0000823 Delayed puberty OMIM:614921 PGM1 5236 HP:0001649 Tachycardia OMIM:614921 PGM1 5236 HP:0012115 Hepatitis OMIM:614921 PGM1 5236 HP:0005305 Cerebral venous thrombosis OMIM:614921 PGM1 5236 HP:0003236 Elevated serum creatine phosphokinase OMIM:271150 SMN1 6606 HP:0007126 Proximal amyotrophy OMIM:271150 SMN1 6606 HP:0003581 Adult onset OMIM:271150 SMN1 6606 HP:0003445 EMG: neuropathic changes OMIM:271150 SMN1 6606 HP:0001308 Tongue fasciculations OMIM:271150 SMN1 6606 HP:0003701 Proximal muscle weakness OMIM:271150 SMN1 6606 HP:0002398 Degeneration of anterior horn cells OMIM:271150 SMN1 6606 HP:0000007 Autosomal recessive inheritance OMIM:271150 SMN1 6606 HP:0007269 Spinal muscular atrophy OMIM:271150 SMN1 6606 HP:0003677 Slow progression OMIM:271150 SMN1 6606 HP:0002378 Hand tremor OMIM:271150 SMN1 6606 HP:0002522 Areflexia of lower limbs OMIM:614643 ISPD 729920 HP:0000518 Cataract OMIM:614643 ISPD 729920 HP:0000278 Retrognathia OMIM:614643 ISPD 729920 HP:0002007 Frontal bossing OMIM:614643 ISPD 729920 HP:0000659 Peters anomaly OMIM:614643 ISPD 729920 HP:0002126 Polymicrogyria OMIM:614643 ISPD 729920 HP:0000490 Deeply set eye OMIM:614643 ISPD 729920 HP:0000501 Glaucoma OMIM:614643 ISPD 729920 HP:0001338 Partial agenesis of the corpus callosum OMIM:614643 ISPD 729920 HP:0003560 Muscular dystrophy OMIM:614643 ISPD 729920 HP:0000609 Optic nerve hypoplasia OMIM:614643 ISPD 729920 HP:0000568 Microphthalmos OMIM:614643 ISPD 729920 HP:0000541 Retinal detachment OMIM:614643 ISPD 729920 HP:0001321 Cerebellar hypoplasia OMIM:614643 ISPD 729920 HP:0000369 Low-set ears OMIM:614643 ISPD 729920 HP:0002365 Hypoplasia of the brainstem OMIM:614643 ISPD 729920 HP:0002084 Encephalocele OMIM:614643 ISPD 729920 HP:0000007 Autosomal recessive inheritance OMIM:614643 ISPD 729920 HP:0001181 Adducted thumb OMIM:614643 ISPD 729920 HP:0008551 Microtia OMIM:614643 ISPD 729920 HP:0003236 Elevated serum creatine phosphokinase OMIM:614643 ISPD 729920 HP:0001252 Muscular hypotonia OMIM:614643 ISPD 729920 HP:0000256 Macrocephaly OMIM:614643 ISPD 729920 HP:0001305 Dandy-Walker malformation OMIM:614643 ISPD 729920 HP:0007973 Retinal dysplasia OMIM:614643 ISPD 729920 HP:0001302 Pachygyria OMIM:614643 ISPD 729920 HP:0002187 Intellectual disability, profound OMIM:614643 ISPD 729920 HP:0002079 Hypoplasia of the corpus callosum OMIM:614643 ISPD 729920 HP:0007260 Type II lissencephaly OMIM:614643 ISPD 729920 HP:0001284 Areflexia OMIM:614643 ISPD 729920 HP:0000238 Hydrocephalus OMIM:614643 ISPD 729920 HP:0001558 Decreased fetal movement OMIM:614643 ISPD 729920 HP:0007968 Persistent hyperplastic primary vitreous OMIM:264470 ACOX1 51 HP:0000648 Optic atrophy OMIM:264470 ACOX1 51 HP:0002240 Hepatomegaly OMIM:264470 ACOX1 51 HP:0000369 Low-set ears OMIM:264470 ACOX1 51 HP:0000007 Autosomal recessive inheritance OMIM:264470 ACOX1 51 HP:0006555 Diffuse hepatic steatosis OMIM:264470 ACOX1 51 HP:0000639 Nystagmus OMIM:264470 ACOX1 51 HP:0008619 Bilateral sensorineural hearing impairment OMIM:264470 ACOX1 51 HP:0000316 Hypertelorism OMIM:264470 ACOX1 51 HP:0005280 Depressed nasal bridge OMIM:264470 ACOX1 51 HP:0000407 Sensorineural hearing impairment OMIM:264470 ACOX1 51 HP:0002376 Developmental regression OMIM:264470 ACOX1 51 HP:0000649 Abnormality of vision evoked potentials OMIM:264470 ACOX1 51 HP:0000248 Brachycephaly OMIM:264470 ACOX1 51 HP:0001319 Neonatal hypotonia OMIM:264470 ACOX1 51 HP:0100543 Cognitive impairment OMIM:264470 ACOX1 51 HP:0001332 Dystonia OMIM:264470 ACOX1 51 HP:0002093 Respiratory insufficiency OMIM:264470 ACOX1 51 HP:0000737 Irritability OMIM:264470 ACOX1 51 HP:0002015 Dysphagia OMIM:264470 ACOX1 51 HP:0000486 Strabismus OMIM:264470 ACOX1 51 HP:0000545 Myopia OMIM:264470 ACOX1 51 HP:0002415 Leukodystrophy OMIM:264470 ACOX1 51 HP:0001288 Gait disturbance OMIM:264470 ACOX1 51 HP:0001252 Muscular hypotonia OMIM:264470 ACOX1 51 HP:0011344 Severe global developmental delay OMIM:264470 ACOX1 51 HP:0000512 Abnormal electroretinogram OMIM:264470 ACOX1 51 HP:0003186 Inverted nipples OMIM:264470 ACOX1 51 HP:0001276 Hypertonia OMIM:264470 ACOX1 51 HP:0001347 Hyperreflexia OMIM:264470 ACOX1 51 HP:0006887 Intellectual disability, progressive OMIM:264470 ACOX1 51 HP:0002011 Morphological abnormality of the central nervous system OMIM:264470 ACOX1 51 HP:0000580 Pigmentary retinopathy OMIM:264470 ACOX1 51 HP:0007305 CNS demyelination OMIM:264470 ACOX1 51 HP:0000286 Epicanthus OMIM:264470 ACOX1 51 HP:0002007 Frontal bossing OMIM:264470 ACOX1 51 HP:0000368 Low-set, posteriorly rotated ears OMIM:264470 ACOX1 51 HP:0000654 Decreased electroretinogram (ERG) amplitude OMIM:264470 ACOX1 51 HP:0003487 Babinski sign OMIM:264470 ACOX1 51 HP:0000431 Wide nasal bridge OMIM:264470 ACOX1 51 HP:0002910 Elevated hepatic transaminases OMIM:264470 ACOX1 51 HP:0008763 No social interaction OMIM:264470 ACOX1 51 HP:0001161 Hand polydactyly OMIM:264470 ACOX1 51 HP:0002353 EEG abnormality OMIM:264470 ACOX1 51 HP:0001250 Seizures OMIM:264470 ACOX1 51 HP:0001939 Abnormality of metabolism/homeostasis OMIM:264470 ACOX1 51 HP:0002167 Neurological speech impairment OMIM:264470 ACOX1 51 HP:0000547 Tapetoretinal degeneration OMIM:264470 ACOX1 51 HP:0010864 Intellectual disability, severe OMIM:264470 ACOX1 51 HP:0003593 Infantile onset OMIM:614195 VSX1 30813 HP:0000238 Hydrocephalus OMIM:614195 VSX1 30813 HP:0011488 Abnormality of corneal endothelium OMIM:614195 VSX1 30813 HP:0000512 Abnormal electroretinogram OMIM:614195 VSX1 30813 HP:0000316 Hypertelorism OMIM:614195 VSX1 30813 HP:0000006 Autosomal dominant inheritance OMIM:614195 VSX1 30813 HP:0007035 Anterior encephalocele OMIM:614195 VSX1 30813 HP:0000356 Abnormality of the outer ear OMIM:614195 VSX1 30813 HP:0007291 Posterior fossa cyst OMIM:193230 KCNJ13 3769 HP:0000655 Vitreoretinal degeneration OMIM:193230 KCNJ13 3769 HP:0000518 Cataract OMIM:193230 KCNJ13 3769 HP:0000006 Autosomal dominant inheritance OMIM:615244 ARHGDIA 396 HP:0003623 Neonatal onset OMIM:615244 ARHGDIA 396 HP:0012577 Thin glomerular basement membrane OMIM:615244 ARHGDIA 396 HP:0000100 Nephrotic syndrome OMIM:615244 ARHGDIA 396 HP:0012622 Chronic kidney disease OMIM:615244 ARHGDIA 396 HP:0000093 Proteinuria OMIM:615244 ARHGDIA 396 HP:0000007 Autosomal recessive inheritance OMIM:615244 ARHGDIA 396 HP:0001967 Diffuse mesangial sclerosis OMIM:615244 ARHGDIA 396 HP:0000969 Edema OMIM:615244 ARHGDIA 396 HP:0003678 Rapidly progressive OMIM:615244 ARHGDIA 396 HP:0003073 Hypoalbuminemia OMIM:609597 ALX4 60529 HP:0007385 Aplasia cutis congenita of scalp OMIM:609597 ALX4 60529 HP:0002084 Encephalocele OMIM:609597 ALX4 60529 HP:0012811 Wide nasal ridge OMIM:609597 ALX4 60529 HP:0005280 Depressed nasal bridge OMIM:609597 ALX4 60529 HP:0002695 Symmetrical, oval parietal bone defects OMIM:609597 ALX4 60529 HP:0000316 Hypertelorism OMIM:609597 ALX4 60529 HP:0002697 Parietal foramina OMIM:609597 ALX4 60529 HP:0000006 Autosomal dominant inheritance OMIM:614338 PNLIP 5406 HP:0000007 Autosomal recessive inheritance OMIM:614338 PNLIP 5406 HP:0002570 Steatorrhea OMIM:600462 PUS1 80324 HP:0000823 Delayed puberty OMIM:600462 PUS1 80324 HP:0000007 Autosomal recessive inheritance OMIM:600462 PUS1 80324 HP:0003281 Increased serum ferritin OMIM:600462 PUS1 80324 HP:0003128 Lactic acidosis OMIM:600462 PUS1 80324 HP:0009055 Generalized limb muscle atrophy OMIM:600462 PUS1 80324 HP:0003688 Decreased activity of cytochrome C oxidase in muscle tissue OMIM:600462 PUS1 80324 HP:0000347 Micrognathia OMIM:600462 PUS1 80324 HP:0002151 Increased serum lactate OMIM:600462 PUS1 80324 HP:0000252 Microcephaly OMIM:600462 PUS1 80324 HP:0001935 Microcytic anemia OMIM:600462 PUS1 80324 HP:0001931 Hypochromic anemia OMIM:600462 PUS1 80324 HP:0003323 Progressive muscle weakness OMIM:600462 PUS1 80324 HP:0000218 High palate OMIM:600462 PUS1 80324 HP:0000980 Pallor OMIM:600462 PUS1 80324 HP:0003546 Exercise intolerance OMIM:600462 PUS1 80324 HP:0001924 Sideroblastic anemia OMIM:600462 PUS1 80324 HP:0001249 Intellectual disability OMIM:600462 PUS1 80324 HP:0012132 Erythroid hyperplasia OMIM:600462 PUS1 80324 HP:0009743 Distichiasis OMIM:600274 PSEN1 5663 HP:0000710 Hyperorality OMIM:600274 PSEN1 5663 HP:0007354 Amyotrophic lateral sclerosis OMIM:600274 PSEN1 5663 HP:0000006 Autosomal dominant inheritance OMIM:600274 PSEN1 5663 HP:0000751 Personality changes OMIM:600274 PSEN1 5663 HP:0000748 Inappropriate laughter OMIM:600274 PSEN1 5663 HP:0000737 Irritability OMIM:600274 PSEN1 5663 HP:0008768 Inappropriate sexual behavior OMIM:600274 PSEN1 5663 HP:0000741 Apathy OMIM:600274 PSEN1 5663 HP:0001300 Parkinsonism OMIM:600274 PSEN1 5663 HP:0002145 Frontotemporal dementia OMIM:600274 PSEN1 5663 HP:0002476 Primitive reflexes (palmomental, snout, glabellar) OMIM:600274 PSEN1 5663 HP:0002591 Polyphagia OMIM:600274 PSEN1 5663 HP:0002529 Neuronal loss in central nervous system OMIM:600274 PSEN1 5663 HP:0000727 Frontal lobe dementia OMIM:600274 PSEN1 5663 HP:0000734 Disinhibition OMIM:600274 PSEN1 5663 HP:0002463 Language impairment OMIM:600274 MAPT 4137 HP:0000710 Hyperorality OMIM:600274 MAPT 4137 HP:0007354 Amyotrophic lateral sclerosis OMIM:600274 MAPT 4137 HP:0000006 Autosomal dominant inheritance OMIM:600274 MAPT 4137 HP:0000751 Personality changes OMIM:600274 MAPT 4137 HP:0000748 Inappropriate laughter OMIM:600274 MAPT 4137 HP:0000737 Irritability OMIM:600274 MAPT 4137 HP:0008768 Inappropriate sexual behavior OMIM:600274 MAPT 4137 HP:0000741 Apathy OMIM:600274 MAPT 4137 HP:0001300 Parkinsonism OMIM:600274 MAPT 4137 HP:0002145 Frontotemporal dementia OMIM:600274 MAPT 4137 HP:0002476 Primitive reflexes (palmomental, snout, glabellar) OMIM:600274 MAPT 4137 HP:0002591 Polyphagia OMIM:600274 MAPT 4137 HP:0002529 Neuronal loss in central nervous system OMIM:600274 MAPT 4137 HP:0000727 Frontal lobe dementia OMIM:600274 MAPT 4137 HP:0000734 Disinhibition OMIM:600274 MAPT 4137 HP:0002463 Language impairment OMIM:615418 SLC25A4 291 HP:0003546 Exercise intolerance OMIM:615418 SLC25A4 291 HP:0003128 Lactic acidosis OMIM:615418 SLC25A4 291 HP:0001639 Hypertrophic cardiomyopathy OMIM:615418 SLC25A4 291 HP:0001324 Muscle weakness OMIM:615418 SLC25A4 291 HP:0100543 Cognitive impairment OMIM:615418 SLC25A4 291 HP:0003677 Slow progression OMIM:615418 SLC25A4 291 HP:0003202 Skeletal muscle atrophy OMIM:615418 SLC25A4 291 HP:0000518 Cataract OMIM:615418 SLC25A4 291 HP:0000007 Autosomal recessive inheritance OMIM:615418 SLC25A4 291 HP:0001513 Obesity OMIM:615418 SLC25A4 291 HP:0003326 Myalgia OMIM:264800 ABCC6 368 HP:0000007 Autosomal recessive inheritance OMIM:264800 ABCC6 368 HP:0001297 Stroke OMIM:264800 ABCC6 368 HP:0001634 Mitral valve prolapse OMIM:264800 ABCC6 368 HP:0000153 Abnormality of the mouth OMIM:264800 ABCC6 368 HP:0001723 Restrictive cardiomyopathy OMIM:264800 ABCC6 368 HP:0001034 Hypermelanotic macule OMIM:264800 ABCC6 368 HP:0001681 Angina pectoris OMIM:264800 ABCC6 368 HP:0001718 Mitral stenosis OMIM:264800 ABCC6 368 HP:0007663 Decreased central vision OMIM:264800 ABCC6 368 HP:0000083 Renal insufficiency OMIM:264800 ABCC6 368 HP:0001102 Angioid streaks of the retina OMIM:264800 ABCC6 368 HP:0002239 Gastrointestinal hemorrhage OMIM:264800 ABCC6 368 HP:0004943 Accelerated atherosclerosis OMIM:264800 ABCC6 368 HP:0000608 Macular degeneration OMIM:264800 ABCC6 368 HP:0001635 Congestive heart failure OMIM:264800 ABCC6 368 HP:0004417 Intermittent claudication OMIM:264800 ABCC6 368 HP:0000573 Retinal hemorrhage OMIM:264800 ABCC6 368 HP:0100817 Renovascular hypertension OMIM:614916 CALM1 801 HP:0002321 Vertigo OMIM:614916 CALM1 801 HP:0001695 Cardiac arrest OMIM:614916 CALM1 801 HP:0000006 Autosomal dominant inheritance OMIM:614916 CALM1 801 HP:0004756 Ventricular tachycardia OMIM:614916 CALM1 801 HP:0001279 Syncope OMIM:614916 CALM1 801 HP:0001699 Sudden death OMIM:300455 RPGR 6103 HP:0005101 High-frequency hearing impairment OMIM:300455 RPGR 6103 HP:0002837 Recurrent bronchitis OMIM:300455 RPGR 6103 HP:0000510 Retinitis pigmentosa OMIM:300455 RPGR 6103 HP:0001419 X-linked recessive inheritance OMIM:300455 RPGR 6103 HP:0100750 Atelectasis OMIM:300455 RPGR 6103 HP:0005376 Recurrent Haemophilus influenzae infections OMIM:300455 RPGR 6103 HP:0011109 Chronic sinusitis OMIM:300455 RPGR 6103 HP:0000388 Otitis media ORPHANET:60030 TGFBR2 7048 HP:0005294 Arterial dissection ORPHANET:60030 TGFBR2 7048 HP:0002617 Aneurysm ORPHANET:60030 TGFBR2 7048 HP:0100490 Camptodactyly of finger ORPHANET:60030 TGFBR2 7048 HP:0000767 Pectus excavatum ORPHANET:60030 TGFBR2 7048 HP:0001645 Sudden cardiac death ORPHANET:60030 TGFBR2 7048 HP:0000963 Thin skin ORPHANET:60030 TGFBR2 7048 HP:0010669 Cheekbone underdevelopment ORPHANET:60030 TGFBR2 7048 HP:0001643 Patent ductus arteriosus ORPHANET:60030 TGFBR2 7048 HP:0005111 Dilatation of the ascending aorta ORPHANET:60030 TGFBR2 7048 HP:0000987 Atypical scarring of skin ORPHANET:60030 TGFBR2 7048 HP:0001065 Striae distensae ORPHANET:60030 TGFBR2 7048 HP:0001363 Craniosynostosis ORPHANET:60030 TGFBR2 7048 HP:0000768 Pectus carinatum ORPHANET:60030 TGFBR2 7048 HP:0001519 Disproportionate tall stature ORPHANET:60030 TGFBR2 7048 HP:0000592 Blue sclerae ORPHANET:60030 TGFBR2 7048 HP:0001763 Pes planus ORPHANET:60030 TGFBR2 7048 HP:0001928 Abnormality of coagulation ORPHANET:60030 TGFBR2 7048 HP:0000347 Micrognathia ORPHANET:60030 TGFBR2 7048 HP:0100718 Uterine rupture ORPHANET:60030 TGFBR2 7048 HP:0000175 Cleft palate ORPHANET:60030 TGFBR2 7048 HP:0001373 Joint dislocation ORPHANET:60030 TGFBR2 7048 HP:0002650 Scoliosis ORPHANET:60030 TGFBR2 7048 HP:0001382 Joint hypermobility ORPHANET:60030 TGFBR2 7048 HP:0001166 Arachnodactyly ORPHANET:60030 TGFBR2 7048 HP:0002647 Aortic dissection ORPHANET:60030 TGFBR1 7046 HP:0005294 Arterial dissection ORPHANET:60030 TGFBR1 7046 HP:0002617 Aneurysm ORPHANET:60030 TGFBR1 7046 HP:0100490 Camptodactyly of finger ORPHANET:60030 TGFBR1 7046 HP:0000767 Pectus excavatum ORPHANET:60030 TGFBR1 7046 HP:0001645 Sudden cardiac death ORPHANET:60030 TGFBR1 7046 HP:0000963 Thin skin ORPHANET:60030 TGFBR1 7046 HP:0010669 Cheekbone underdevelopment ORPHANET:60030 TGFBR1 7046 HP:0001643 Patent ductus arteriosus ORPHANET:60030 TGFBR1 7046 HP:0005111 Dilatation of the ascending aorta ORPHANET:60030 TGFBR1 7046 HP:0000987 Atypical scarring of skin ORPHANET:60030 TGFBR1 7046 HP:0001065 Striae distensae ORPHANET:60030 TGFBR1 7046 HP:0001363 Craniosynostosis ORPHANET:60030 TGFBR1 7046 HP:0000768 Pectus carinatum ORPHANET:60030 TGFBR1 7046 HP:0001519 Disproportionate tall stature ORPHANET:60030 TGFBR1 7046 HP:0000592 Blue sclerae ORPHANET:60030 TGFBR1 7046 HP:0001763 Pes planus ORPHANET:60030 TGFBR1 7046 HP:0001928 Abnormality of coagulation ORPHANET:60030 TGFBR1 7046 HP:0000347 Micrognathia ORPHANET:60030 TGFBR1 7046 HP:0100718 Uterine rupture ORPHANET:60030 TGFBR1 7046 HP:0000175 Cleft palate ORPHANET:60030 TGFBR1 7046 HP:0001373 Joint dislocation ORPHANET:60030 TGFBR1 7046 HP:0002650 Scoliosis ORPHANET:60030 TGFBR1 7046 HP:0001382 Joint hypermobility ORPHANET:60030 TGFBR1 7046 HP:0001166 Arachnodactyly ORPHANET:60030 TGFBR1 7046 HP:0002647 Aortic dissection OMIM:613642 SDHA 6389 HP:0001644 Dilated cardiomyopathy OMIM:613642 SDHA 6389 HP:0000007 Autosomal recessive inheritance OMIM:601390 DCHS1 8642 HP:0002652 Skeletal dysplasia OMIM:601390 DCHS1 8642 HP:0003577 Congenital onset OMIM:601390 DCHS1 8642 HP:0001388 Joint laxity OMIM:601390 DCHS1 8642 HP:0000218 High palate OMIM:601390 DCHS1 8642 HP:0000508 Ptosis OMIM:601390 DCHS1 8642 HP:0001545 Anteriorly placed anus OMIM:601390 DCHS1 8642 HP:0002714 Downturned corners of mouth OMIM:601390 DCHS1 8642 HP:0002650 Scoliosis OMIM:601390 DCHS1 8642 HP:0000894 Short clavicles OMIM:601390 DCHS1 8642 HP:0030084 Clinodactyly OMIM:601390 DCHS1 8642 HP:0002079 Hypoplasia of the corpus callosum OMIM:601390 DCHS1 8642 HP:0000431 Wide nasal bridge OMIM:601390 DCHS1 8642 HP:0000581 Blepharophimosis OMIM:601390 DCHS1 8642 HP:0040079 Irregular dentition OMIM:601390 DCHS1 8642 HP:0009879 Cortical gyral simplification OMIM:601390 DCHS1 8642 HP:0008551 Microtia OMIM:601390 DCHS1 8642 HP:0000272 Malar flattening OMIM:601390 DCHS1 8642 HP:0000405 Conductive hearing impairment OMIM:601390 DCHS1 8642 HP:0001510 Growth delay OMIM:601390 DCHS1 8642 HP:0010537 Wide cranial sutures OMIM:601390 DCHS1 8642 HP:0010044 Short 4th metacarpal OMIM:601390 DCHS1 8642 HP:0000286 Epicanthus OMIM:601390 DCHS1 8642 HP:0000007 Autosomal recessive inheritance OMIM:601390 DCHS1 8642 HP:0000689 Dental malocclusion OMIM:601390 DCHS1 8642 HP:0000774 Narrow chest OMIM:601390 DCHS1 8642 HP:0004689 Short fourth metatarsal OMIM:601390 DCHS1 8642 HP:0000347 Micrognathia OMIM:601390 DCHS1 8642 HP:0000316 Hypertelorism OMIM:601390 DCHS1 8642 HP:0000407 Sensorineural hearing impairment OMIM:601390 DCHS1 8642 HP:0012745 Short palpebral fissure OMIM:601390 DCHS1 8642 HP:0000960 Sacral dimple OMIM:601390 DCHS1 8642 HP:0001302 Pachygyria OMIM:601390 DCHS1 8642 HP:0010554 Cutaneous finger syndactyly OMIM:601390 DCHS1 8642 HP:0001762 Talipes equinovarus OMIM:601390 DCHS1 8642 HP:0000047 Hypospadias OMIM:601390 DCHS1 8642 HP:0010804 Tented upper lip vermilion OMIM:601390 DCHS1 8642 HP:0011968 Feeding difficulties OMIM:601390 DCHS1 8642 HP:0000260 Wide anterior fontanel OMIM:601390 DCHS1 8642 HP:0001252 Muscular hypotonia OMIM:601390 DCHS1 8642 HP:0000089 Renal hypoplasia OMIM:601390 DCHS1 8642 HP:0000938 Osteopenia OMIM:601390 DCHS1 8642 HP:0002023 Anal atresia OMIM:601390 DCHS1 8642 HP:0000413 Atresia of the external auditory canal OMIM:601390 DCHS1 8642 HP:0001249 Intellectual disability OMIM:601390 DCHS1 8642 HP:0000341 Narrow forehead OMIM:601390 DCHS1 8642 HP:0000327 Hypoplasia of the maxilla ORPHANET:6 MCCC2 64087 HP:0001943 Hypoglycemia ORPHANET:6 MCCC2 64087 HP:0100022 Abnormality of movement ORPHANET:6 MCCC2 64087 HP:0002093 Respiratory insufficiency ORPHANET:6 MCCC2 64087 HP:0001276 Hypertonia ORPHANET:6 MCCC2 64087 HP:0001987 Hyperammonemia ORPHANET:6 MCCC2 64087 HP:0001252 Muscular hypotonia ORPHANET:6 MCCC2 64087 HP:0100659 Abnormality of the cerebral vasculature ORPHANET:6 MCCC1 56922 HP:0001943 Hypoglycemia ORPHANET:6 MCCC1 56922 HP:0100022 Abnormality of movement ORPHANET:6 MCCC1 56922 HP:0002093 Respiratory insufficiency ORPHANET:6 MCCC1 56922 HP:0001276 Hypertonia ORPHANET:6 MCCC1 56922 HP:0001987 Hyperammonemia ORPHANET:6 MCCC1 56922 HP:0001252 Muscular hypotonia ORPHANET:6 MCCC1 56922 HP:0100659 Abnormality of the cerebral vasculature OMIM:227810 SLC2A2 6514 HP:0004396 Poor appetite OMIM:227810 SLC2A2 6514 HP:0003537 Hypouricemia OMIM:227810 SLC2A2 6514 HP:0003155 Elevated alkaline phosphatase OMIM:227810 SLC2A2 6514 HP:0002148 Hypophosphatemia OMIM:227810 SLC2A2 6514 HP:0002900 Hypokalemia OMIM:227810 SLC2A2 6514 HP:0003076 Glycosuria OMIM:227810 SLC2A2 6514 HP:0003270 Abdominal distention OMIM:227810 SLC2A2 6514 HP:0001263 Global developmental delay OMIM:227810 SLC2A2 6514 HP:0001508 Failure to thrive OMIM:227810 SLC2A2 6514 HP:0002909 Generalized aminoaciduria OMIM:227810 SLC2A2 6514 HP:0000124 Renal tubular dysfunction OMIM:227810 SLC2A2 6514 HP:0003109 Hyperphosphaturia OMIM:227810 SLC2A2 6514 HP:0000007 Autosomal recessive inheritance OMIM:227810 SLC2A2 6514 HP:0004915 Impairment of galactose metabolism OMIM:227810 SLC2A2 6514 HP:0001002 Decreased subcutaneous fat OMIM:227810 SLC2A2 6514 HP:0002749 Osteomalacia OMIM:227810 SLC2A2 6514 HP:0012468 Chronic acidosis OMIM:227810 SLC2A2 6514 HP:0002024 Malabsorption OMIM:165550 PAX6 5080 HP:0000609 Optic nerve hypoplasia OMIM:165550 PAX6 5080 HP:0012521 Optic nerve aplasia OMIM:165550 PAX6 5080 HP:0000006 Autosomal dominant inheritance OMIM:165550 PAX6 5080 HP:0000505 Visual impairment OMIM:165550 PAX6 5080 HP:0012795 Abnormality of the optic disc OMIM:614650 COQ6 51004 HP:0001967 Diffuse mesangial sclerosis OMIM:614650 COQ6 51004 HP:0000407 Sensorineural hearing impairment OMIM:614650 COQ6 51004 HP:0003678 Rapidly progressive OMIM:614650 COQ6 51004 HP:0003593 Infantile onset OMIM:614650 COQ6 51004 HP:0000093 Proteinuria OMIM:614650 COQ6 51004 HP:0000100 Nephrotic syndrome OMIM:614650 COQ6 51004 HP:0000097 Focal segmental glomerulosclerosis OMIM:614650 COQ6 51004 HP:0001250 Seizures OMIM:614650 COQ6 51004 HP:0000007 Autosomal recessive inheritance OMIM:609814 CFH 3075 HP:0005369 Decreased serum complement factor H OMIM:609814 CFH 3075 HP:0003812 Phenotypic variability OMIM:609814 CFH 3075 HP:0002718 Recurrent bacterial infections OMIM:609814 CFH 3075 HP:0000007 Autosomal recessive inheritance OMIM:609814 CFH 3075 HP:0004722 Thickening of the glomerular basement membrane OMIM:609814 CFH 3075 HP:0000790 Hematuria OMIM:609814 CFH 3075 HP:0005389 Depletion of components of the alternative complement pathway OMIM:609814 CFH 3075 HP:0012622 Chronic kidney disease OMIM:609814 CFH 3075 HP:0000006 Autosomal dominant inheritance OMIM:609814 CFH 3075 HP:0004746 Dense deposit disease OMIM:609814 CFH 3075 HP:0003621 Juvenile onset OMIM:602361 FAM111A 63901 HP:0002983 Micromelia OMIM:602361 FAM111A 63901 HP:0000028 Cryptorchidism OMIM:602361 FAM111A 63901 HP:0001838 Rocker bottom foot OMIM:602361 FAM111A 63901 HP:0100625 Enlarged thorax OMIM:602361 FAM111A 63901 HP:0002093 Respiratory insufficiency OMIM:602361 FAM111A 63901 HP:0001156 Brachydactyly syndrome OMIM:602361 FAM111A 63901 HP:0000518 Cataract OMIM:602361 FAM111A 63901 HP:0000054 Micropenis OMIM:602361 FAM111A 63901 HP:0003100 Slender long bone OMIM:602361 FAM111A 63901 HP:0004348 Abnormality of bone mineral density OMIM:602361 FAM111A 63901 HP:0000316 Hypertelorism OMIM:602361 FAM111A 63901 HP:0011039 Abnormality of the helix OMIM:602361 FAM111A 63901 HP:0004331 Decreased skull ossification OMIM:602361 FAM111A 63901 HP:0001250 Seizures OMIM:602361 FAM111A 63901 HP:0000272 Malar flattening OMIM:602361 FAM111A 63901 HP:0000526 Aniridia OMIM:602361 FAM111A 63901 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:602361 FAM111A 63901 HP:0002901 Hypocalcemia OMIM:602361 FAM111A 63901 HP:0000463 Anteverted nares OMIM:602361 FAM111A 63901 HP:0006270 Hypoplastic spleen OMIM:602361 FAM111A 63901 HP:0003196 Short nose OMIM:602361 FAM111A 63901 HP:0001511 Intrauterine growth retardation OMIM:602361 FAM111A 63901 HP:0008736 Hypoplasia of penis OMIM:602361 FAM111A 63901 HP:0001263 Global developmental delay OMIM:602361 FAM111A 63901 HP:0002757 Recurrent fractures OMIM:602361 FAM111A 63901 HP:0001182 Tapered finger OMIM:602361 FAM111A 63901 HP:0001831 Short toe OMIM:602361 FAM111A 63901 HP:0000601 Hypotelorism OMIM:602361 FAM111A 63901 HP:0002007 Frontal bossing OMIM:602361 FAM111A 63901 HP:0100627 Displacement of the external urethral meatus OMIM:602361 FAM111A 63901 HP:0000926 Platyspondyly OMIM:602361 FAM111A 63901 HP:0000482 Microcornea OMIM:602361 FAM111A 63901 HP:0001508 Failure to thrive OMIM:602361 FAM111A 63901 HP:0000581 Blepharophimosis OMIM:602361 FAM111A 63901 HP:0000006 Autosomal dominant inheritance OMIM:602361 FAM111A 63901 HP:0000612 Iris coloboma OMIM:602361 FAM111A 63901 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:602361 FAM111A 63901 HP:0001163 Abnormality of the metacarpal bones OMIM:602361 FAM111A 63901 HP:0002269 Abnormality of neuronal migration OMIM:602361 FAM111A 63901 HP:0001746 Asplenia OMIM:602361 FAM111A 63901 HP:0006487 Bowing of the long bones OMIM:602361 FAM111A 63901 HP:0000322 Short philtrum OMIM:602361 FAM111A 63901 HP:0003015 Flared metaphysis OMIM:602361 FAM111A 63901 HP:0000592 Blue sclerae OMIM:602361 FAM111A 63901 HP:0011220 Prominent forehead OMIM:602361 FAM111A 63901 HP:0004322 Short stature OMIM:602361 FAM111A 63901 HP:0002240 Hepatomegaly OMIM:602361 FAM111A 63901 HP:0000238 Hydrocephalus OMIM:602361 FAM111A 63901 HP:0000175 Cleft palate OMIM:602361 FAM111A 63901 HP:0010296 Ankyloglossia OMIM:602361 FAM111A 63901 HP:0000889 Abnormality of the clavicle OMIM:602361 FAM111A 63901 HP:0000582 Upslanted palpebral fissure OMIM:602361 FAM111A 63901 HP:0000568 Microphthalmos OMIM:602361 FAM111A 63901 HP:0008678 Renal hypoplasia/aplasia OMIM:602361 FAM111A 63901 HP:0009882 Short distal phalanx of finger OMIM:602361 FAM111A 63901 HP:0001252 Muscular hypotonia OMIM:602361 FAM111A 63901 HP:0001541 Ascites OMIM:602361 FAM111A 63901 HP:0005280 Depressed nasal bridge OMIM:602361 FAM111A 63901 HP:0002676 Cloverleaf skull OMIM:602361 FAM111A 63901 HP:0000772 Abnormality of the ribs OMIM:602361 FAM111A 63901 HP:0010804 Tented upper lip vermilion OMIM:602361 FAM111A 63901 HP:0000160 Narrow mouth OMIM:602361 FAM111A 63901 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:602361 FAM111A 63901 HP:0002652 Skeletal dysplasia OMIM:602361 FAM111A 63901 HP:0000944 Abnormality of the metaphyses OMIM:602361 FAM111A 63901 HP:0001231 Abnormality of the fingernails OMIM:602361 FAM111A 63901 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:602361 FAM111A 63901 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:602361 FAM111A 63901 HP:0000368 Low-set, posteriorly rotated ears OMIM:602361 FAM111A 63901 HP:0001562 Oligohydramnios OMIM:602361 FAM111A 63901 HP:0001743 Abnormality of the spleen OMIM:602361 FAM111A 63901 HP:0000431 Wide nasal bridge OMIM:602361 FAM111A 63901 HP:0010515 Aplasia/Hypoplasia of the thymus OMIM:602361 FAM111A 63901 HP:0009924 Aplasia/Hypoplasia involving the nose OMIM:610474 FGFR3 2261 HP:0000218 High palate OMIM:610474 FGFR3 2261 HP:0000365 Hearing impairment OMIM:610474 FGFR3 2261 HP:0006417 Broad femoral metaphyses OMIM:610474 FGFR3 2261 HP:0001836 Camptodactyly of toe OMIM:610474 FGFR3 2261 HP:0000767 Pectus excavatum OMIM:610474 FGFR3 2261 HP:0001166 Arachnodactyly OMIM:610474 FGFR3 2261 HP:0001249 Intellectual disability OMIM:610474 FGFR3 2261 HP:0001263 Global developmental delay OMIM:610474 FGFR3 2261 HP:0002650 Scoliosis OMIM:610474 FGFR3 2261 HP:0000098 Tall stature OMIM:610474 FGFR3 2261 HP:0000252 Microcephaly OMIM:610474 FGFR3 2261 HP:0000006 Autosomal dominant inheritance OMIM:610474 FGFR3 2261 HP:0000407 Sensorineural hearing impairment OMIM:610474 FGFR3 2261 HP:0100490 Camptodactyly of finger OMIM:610474 FGFR3 2261 HP:0009473 Joint contracture of the hand OMIM:610474 FGFR3 2261 HP:0004570 Increased vertebral height OMIM:613151 POMGNT1 55624 HP:0001249 Intellectual disability OMIM:613151 POMGNT1 55624 HP:0003236 Elevated serum creatine phosphokinase OMIM:613151 POMGNT1 55624 HP:0003741 Congenital muscular dystrophy OMIM:613151 POMGNT1 55624 HP:0002119 Ventriculomegaly OMIM:613151 POMGNT1 55624 HP:0000007 Autosomal recessive inheritance OMIM:613151 POMGNT1 55624 HP:0001270 Motor delay OMIM:613151 POMGNT1 55624 HP:0000648 Optic atrophy OMIM:613151 POMGNT1 55624 HP:0000486 Strabismus OMIM:613151 POMGNT1 55624 HP:0000545 Myopia OMIM:613151 POMGNT1 55624 HP:0000252 Microcephaly OMIM:613151 POMGNT1 55624 HP:0002350 Cerebellar cyst OMIM:613151 POMGNT1 55624 HP:0012110 Hypoplasia of the pons OMIM:613151 POMGNT1 55624 HP:0001321 Cerebellar hypoplasia OMIM:613151 POMGNT1 55624 HP:0003577 Congenital onset OMIM:603467 FANCF 2188 HP:0005528 Bone marrow hypocellularity OMIM:603467 FANCF 2188 HP:0003220 Abnormality of chromosome stability OMIM:603467 FANCF 2188 HP:0000007 Autosomal recessive inheritance OMIM:615846 IFIH1 64135 HP:0011968 Feeding difficulties OMIM:615846 IFIH1 64135 HP:0000737 Irritability OMIM:615846 IFIH1 64135 HP:0001250 Seizures OMIM:615846 IFIH1 64135 HP:0000496 Abnormality of eye movement OMIM:615846 IFIH1 64135 HP:0001263 Global developmental delay OMIM:615846 IFIH1 64135 HP:0002376 Developmental regression OMIM:615846 IFIH1 64135 HP:0001249 Intellectual disability OMIM:615846 IFIH1 64135 HP:0002135 Basal ganglia calcification OMIM:615846 IFIH1 64135 HP:0001344 Absent speech OMIM:615846 IFIH1 64135 HP:0010702 Hypergammaglobulinemia OMIM:615846 IFIH1 64135 HP:0002633 Vasculitis OMIM:615846 IFIH1 64135 HP:0002059 Cerebral atrophy OMIM:615846 IFIH1 64135 HP:0000100 Nephrotic syndrome OMIM:615846 IFIH1 64135 HP:0001047 Atopic dermatitis OMIM:615846 IFIH1 64135 HP:0002240 Hepatomegaly OMIM:615846 IFIH1 64135 HP:0001744 Splenomegaly OMIM:615846 IFIH1 64135 HP:0001332 Dystonia OMIM:615846 IFIH1 64135 HP:0001511 Intrauterine growth retardation OMIM:615846 IFIH1 64135 HP:0001873 Thrombocytopenia OMIM:615846 IFIH1 64135 HP:0000252 Microcephaly OMIM:615846 IFIH1 64135 HP:0001285 Spastic tetraparesis OMIM:615846 IFIH1 64135 HP:0008936 Muscular hypotonia of the trunk OMIM:603543 TP63 8626 HP:0001171 Split hand OMIM:603543 TP63 8626 HP:0000564 Lacrimal duct atresia OMIM:603543 TP63 8626 HP:0002164 Nail dysplasia OMIM:603543 TP63 8626 HP:0000193 Bifid uvula OMIM:603543 TP63 8626 HP:0000668 Hypodontia OMIM:603543 TP63 8626 HP:0009473 Joint contracture of the hand OMIM:603543 TP63 8626 HP:0000006 Autosomal dominant inheritance OMIM:603543 TP63 8626 HP:0001839 Split foot OMIM:603543 TP63 8626 HP:0001159 Syndactyly OMIM:603543 TP63 8626 HP:0001822 Hallux valgus OMIM:603543 TP63 8626 HP:0000966 Hypohidrosis OMIM:603543 TP63 8626 HP:0012385 Camptodactyly OMIM:603543 TP63 8626 HP:0002557 Hypoplastic nipples OMIM:603543 TP63 8626 HP:0000175 Cleft palate ORPHANET:79095 AMACR 23600 HP:0001250 Seizures ORPHANET:79095 AMACR 23600 HP:0002240 Hepatomegaly ORPHANET:79095 AMACR 23600 HP:0002007 Frontal bossing ORPHANET:79095 AMACR 23600 HP:0009830 Peripheral neuropathy ORPHANET:79095 AMACR 23600 HP:0001394 Cirrhosis ORPHANET:79095 AMACR 23600 HP:0003011 Abnormality of the musculature ORPHANET:79095 AMACR 23600 HP:0000954 Single transverse palmar crease ORPHANET:79095 AMACR 23600 HP:0007703 Abnormal retinal pigmentation ORPHANET:79095 AMACR 23600 HP:0002024 Malabsorption ORPHANET:79095 AMACR 23600 HP:0005264 Abnormality of the gallbladder ORPHANET:79095 AMACR 23600 HP:0002383 Encephalitis ORPHANET:79095 AMACR 23600 HP:0000286 Epicanthus OMIM:149200 GJB2 2706 HP:0000006 Autosomal dominant inheritance OMIM:149200 GJB2 2706 HP:0001820 Leukonychia OMIM:149200 GJB2 2706 HP:0000982 Palmoplantar keratoderma OMIM:149200 GJB2 2706 HP:0000407 Sensorineural hearing impairment OMIM:149200 GJB2 2706 HP:0000365 Hearing impairment OMIM:149200 GJB2 2706 HP:0100643 Abnormality of nail color OMIM:179820 REN 5972 HP:0001939 Abnormality of metabolism/homeostasis OMIM:179820 REN 5972 HP:0000818 Abnormality of the endocrine system OMIM:179820 REN 5972 HP:0000006 Autosomal dominant inheritance OMIM:612138 PLEC 5339 HP:0001944 Dehydration OMIM:612138 PLEC 5339 HP:0100806 Sepsis OMIM:612138 PLEC 5339 HP:0003577 Congenital onset OMIM:612138 PLEC 5339 HP:0008066 Abnormal blistering of the skin OMIM:612138 PLEC 5339 HP:0000490 Deeply set eye OMIM:612138 PLEC 5339 HP:0008872 Feeding difficulties in infancy OMIM:612138 PLEC 5339 HP:0001903 Anemia OMIM:612138 PLEC 5339 HP:0001561 Polyhydramnios OMIM:612138 PLEC 5339 HP:0000007 Autosomal recessive inheritance OMIM:612138 PLEC 5339 HP:0000163 Abnormality of the oral cavity OMIM:612138 PLEC 5339 HP:0000366 Abnormality of the nose OMIM:612138 PLEC 5339 HP:0000430 Underdeveloped nasal alae OMIM:612138 PLEC 5339 HP:0001030 Fragile skin OMIM:612138 PLEC 5339 HP:0002577 Abnormality of the stomach OMIM:612138 PLEC 5339 HP:0001376 Limitation of joint mobility OMIM:612138 PLEC 5339 HP:0001622 Premature birth OMIM:612138 PLEC 5339 HP:0001371 Flexion contracture OMIM:612138 PLEC 5339 HP:0008551 Microtia OMIM:231005 GBA 2629 HP:0001744 Splenomegaly OMIM:231005 GBA 2629 HP:0005173 Calcific aortic valve stenosis OMIM:231005 GBA 2629 HP:0000238 Hydrocephalus OMIM:231005 GBA 2629 HP:0001250 Seizures OMIM:231005 GBA 2629 HP:0007759 Opacification of the corneal stroma OMIM:231005 GBA 2629 HP:0000666 Horizontal nystagmus OMIM:231005 GBA 2629 HP:0004963 Calcification of the aorta OMIM:231005 GBA 2629 HP:0000365 Hearing impairment OMIM:231005 GBA 2629 HP:0001718 Mitral stenosis OMIM:231005 GBA 2629 HP:0001635 Congestive heart failure OMIM:231005 GBA 2629 HP:0007885 Slowed horizontal saccades OMIM:231005 GBA 2629 HP:0007975 Hypometric horizontal saccades OMIM:231005 GBA 2629 HP:0000623 Supranuclear ophthalmoplegia OMIM:231005 GBA 2629 HP:0002240 Hepatomegaly OMIM:231005 GBA 2629 HP:0001679 Abnormality of the aorta OMIM:231005 GBA 2629 HP:0001276 Hypertonia OMIM:231005 GBA 2629 HP:0000486 Strabismus OMIM:231005 GBA 2629 HP:0000597 Ophthalmoparesis OMIM:231005 GBA 2629 HP:0001646 Abnormality of the aortic valve OMIM:231005 GBA 2629 HP:0001640 Cardiomegaly OMIM:231005 GBA 2629 HP:0000007 Autosomal recessive inheritance OMIM:231005 GBA 2629 HP:0001876 Pancytopenia OMIM:231005 GBA 2629 HP:0200129 Calcific mitral stenosis OMIM:231005 GBA 2629 HP:0001761 Pes cavus OMIM:202370 PEX5 5830 HP:0000565 Esotropia OMIM:202370 PEX5 5830 HP:0000007 Autosomal recessive inheritance OMIM:202370 PEX5 5830 HP:0002007 Frontal bossing OMIM:202370 PEX5 5830 HP:0000268 Dolichocephaly OMIM:202370 PEX5 5830 HP:0001250 Seizures OMIM:202370 PEX5 5830 HP:0000463 Anteverted nares OMIM:202370 PEX5 5830 HP:0003455 Elevated long chain fatty acids OMIM:202370 PEX5 5830 HP:0000846 Adrenal insufficiency OMIM:202370 PEX5 5830 HP:0000369 Low-set ears OMIM:202370 PEX5 5830 HP:0010696 Polar cataract OMIM:202370 PEX5 5830 HP:0001999 Abnormal facial shape OMIM:202370 PEX5 5830 HP:0001249 Intellectual disability OMIM:202370 PEX5 5830 HP:0000431 Wide nasal bridge OMIM:202370 PEX5 5830 HP:0000218 High palate OMIM:202370 PEX5 5830 HP:0000286 Epicanthus OMIM:260005 OPLAH 26873 HP:0008672 Calcium oxalate nephrolithiasis OMIM:260005 OPLAH 26873 HP:0002014 Diarrhea OMIM:260005 OPLAH 26873 HP:0040142 5-oxoprolinase deficiency OMIM:260005 OPLAH 26873 HP:0000007 Autosomal recessive inheritance OMIM:260005 OPLAH 26873 HP:0003137 Prolinuria OMIM:260005 OPLAH 26873 HP:0004387 Enterocolitis OMIM:260005 OPLAH 26873 HP:0002013 Vomiting OMIM:260005 OPLAH 26873 HP:0002027 Abdominal pain OMIM:614483 COL4A2 1284 HP:0002170 Intracranial hemorrhage OMIM:614483 COL4A2 1284 HP:0000006 Autosomal dominant inheritance OMIM:614483 COL4A2 1284 HP:0003829 Incomplete penetrance OMIM:614483 COL4A2 1284 HP:0003828 Variable expressivity OMIM:614483 COL4A2 1284 HP:0001263 Global developmental delay OMIM:614483 COL4A2 1284 HP:0001250 Seizures OMIM:614483 COL4A2 1284 HP:0002132 Porencephaly OMIM:614483 COL4A2 1284 HP:0002301 Hemiplegia OMIM:614483 COL4A2 1284 HP:0002119 Ventriculomegaly OMIM:614483 COL4A2 1284 HP:0001257 Spasticity OMIM:606595 HSPB1 3315 HP:0002380 Fasciculations OMIM:606595 HSPB1 3315 HP:0001265 Hyporeflexia OMIM:606595 HSPB1 3315 HP:0007267 Chronic axonal neuropathy OMIM:606595 HSPB1 3315 HP:0003693 Distal amyotrophy OMIM:606595 HSPB1 3315 HP:0009027 Foot dorsiflexor weakness OMIM:606595 HSPB1 3315 HP:0001178 Ulnar claw OMIM:606595 HSPB1 3315 HP:0003394 Muscle cramps OMIM:606595 HSPB1 3315 HP:0003376 Steppage gait OMIM:606595 HSPB1 3315 HP:0002460 Distal muscle weakness OMIM:606595 HSPB1 3315 HP:0000006 Autosomal dominant inheritance OMIM:606595 HSPB1 3315 HP:0003431 Decreased motor nerve conduction velocity OMIM:606595 HSPB1 3315 HP:0002936 Distal sensory impairment OMIM:606595 HSPB1 3315 HP:0001761 Pes cavus OMIM:606595 HSPB1 3315 HP:0001284 Areflexia OMIM:612908 DSP 1832 HP:0000982 Palmoplantar keratoderma OMIM:612908 DSP 1832 HP:0000006 Autosomal dominant inheritance OMIM:612940 PYCR1 5831 HP:0000272 Malar flattening OMIM:612940 PYCR1 5831 HP:0001511 Intrauterine growth retardation OMIM:612940 PYCR1 5831 HP:0000494 Downslanted palpebral fissures OMIM:612940 PYCR1 5831 HP:0000238 Hydrocephalus OMIM:612940 PYCR1 5831 HP:0000418 Narrow nasal ridge OMIM:612940 PYCR1 5831 HP:0001374 Congenital hip dislocation OMIM:612940 PYCR1 5831 HP:0000490 Deeply set eye OMIM:612940 PYCR1 5831 HP:0001382 Joint hypermobility OMIM:612940 PYCR1 5831 HP:0000316 Hypertelorism OMIM:612940 PYCR1 5831 HP:0001508 Failure to thrive OMIM:612940 PYCR1 5831 HP:0002007 Frontal bossing OMIM:612940 PYCR1 5831 HP:0006487 Bowing of the long bones OMIM:612940 PYCR1 5831 HP:0000007 Autosomal recessive inheritance OMIM:612940 PYCR1 5831 HP:0002650 Scoliosis OMIM:612940 PYCR1 5831 HP:0000239 Large fontanelles OMIM:612940 PYCR1 5831 HP:0001582 Redundant skin OMIM:612940 PYCR1 5831 HP:0000601 Hypotelorism OMIM:612940 PYCR1 5831 HP:0000252 Microcephaly OMIM:612940 PYCR1 5831 HP:0001274 Agenesis of corpus callosum OMIM:612940 PYCR1 5831 HP:0000337 Broad forehead OMIM:612940 PYCR1 5831 HP:0002020 Gastroesophageal reflux OMIM:612940 PYCR1 5831 HP:0000592 Blue sclerae OMIM:612940 PYCR1 5831 HP:0000938 Osteopenia OMIM:612940 PYCR1 5831 HP:0001263 Global developmental delay OMIM:612940 PYCR1 5831 HP:0000325 Triangular face OMIM:612940 PYCR1 5831 HP:0000411 Protruding ear OMIM:612940 PYCR1 5831 HP:0011800 Midface retrusion OMIM:612940 PYCR1 5831 HP:0011220 Prominent forehead OMIM:607596 VRK1 7443 HP:0200147 Neuronal loss in basal ganglia OMIM:607596 VRK1 7443 HP:0000007 Autosomal recessive inheritance OMIM:607596 VRK1 7443 HP:0006999 Basal ganglia gliosis OMIM:607596 VRK1 7443 HP:0006850 Hypoplasia of the ventral pons OMIM:607596 VRK1 7443 HP:0002398 Degeneration of anterior horn cells OMIM:607596 VRK1 7443 HP:0008872 Feeding difficulties in infancy OMIM:607596 VRK1 7443 HP:0003676 Progressive disorder OMIM:607596 VRK1 7443 HP:0002093 Respiratory insufficiency OMIM:607596 VRK1 7443 HP:0001251 Ataxia OMIM:607596 VRK1 7443 HP:0001321 Cerebellar hypoplasia OMIM:607596 VRK1 7443 HP:0003577 Congenital onset OMIM:607596 VRK1 7443 HP:0001760 Abnormality of the foot OMIM:607596 VRK1 7443 HP:0003445 EMG: neuropathic changes OMIM:607596 VRK1 7443 HP:0001252 Muscular hypotonia OMIM:607596 VRK1 7443 HP:0012110 Hypoplasia of the pons OMIM:607596 VRK1 7443 HP:0001249 Intellectual disability OMIM:607596 VRK1 7443 HP:0002803 Congenital contracture OMIM:607596 VRK1 7443 HP:0001324 Muscle weakness OMIM:607596 VRK1 7443 HP:0001347 Hyperreflexia OMIM:607596 VRK1 7443 HP:0007269 Spinal muscular atrophy OMIM:607596 VRK1 7443 HP:0001263 Global developmental delay OMIM:607596 VRK1 7443 HP:0002380 Fasciculations OMIM:256731 CLN5 1203 HP:0000639 Nystagmus OMIM:256731 CLN5 1203 HP:0001311 Abnormal nervous system electrophysiology OMIM:256731 CLN5 1203 HP:0001272 Cerebellar atrophy OMIM:256731 CLN5 1203 HP:0001260 Dysarthria OMIM:256731 CLN5 1203 HP:0001250 Seizures OMIM:256731 CLN5 1203 HP:0003208 Fingerprint intracellular accumulation of autofluorescent lipopigment storage material OMIM:256731 CLN5 1203 HP:0000529 Progressive visual loss OMIM:256731 CLN5 1203 HP:0000546 Retinal degeneration OMIM:256731 CLN5 1203 HP:0001249 Intellectual disability OMIM:256731 CLN5 1203 HP:0002376 Developmental regression OMIM:256731 CLN5 1203 HP:0002333 Motor deterioration OMIM:256731 CLN5 1203 HP:0002312 Clumsiness OMIM:256731 CLN5 1203 HP:0002075 Dysdiadochokinesis OMIM:256731 CLN5 1203 HP:0003205 Curvilinear intracellular accumulation of autofluorescent lipopigment storage material OMIM:256731 CLN5 1203 HP:0002074 Increased neuronal autofluorescent lipopigment OMIM:256731 CLN5 1203 HP:0001310 Dysmetria OMIM:256731 CLN5 1203 HP:0000007 Autosomal recessive inheritance OMIM:256731 CLN5 1203 HP:0003226 Rectilinear intracellular accumulation of autofluorescent lipopigment storage material OMIM:256731 CLN5 1203 HP:0001336 Myoclonus OMIM:614850 TICAM1 148022 HP:0000006 Autosomal dominant inheritance OMIM:614850 TICAM1 148022 HP:0012302 Herpes simplex encephalitis OMIM:614850 TICAM1 148022 HP:0000007 Autosomal recessive inheritance OMIM:615284 SBF1 6305 HP:0001288 Gait disturbance OMIM:615284 SBF1 6305 HP:0003676 Progressive disorder OMIM:615284 SBF1 6305 HP:0002936 Distal sensory impairment OMIM:615284 SBF1 6305 HP:0000602 Ophthalmoplegia OMIM:615284 SBF1 6305 HP:0001159 Syndactyly OMIM:615284 SBF1 6305 HP:0001249 Intellectual disability OMIM:615284 SBF1 6305 HP:0001763 Pes planus OMIM:615284 SBF1 6305 HP:0000007 Autosomal recessive inheritance OMIM:615284 SBF1 6305 HP:0001284 Areflexia OMIM:615284 SBF1 6305 HP:0002650 Scoliosis OMIM:615284 SBF1 6305 HP:0000252 Microcephaly OMIM:615284 SBF1 6305 HP:0012444 Brain atrophy OMIM:615284 SBF1 6305 HP:0003383 Onion bulb formation OMIM:615284 SBF1 6305 HP:0000486 Strabismus OMIM:615284 SBF1 6305 HP:0000020 Urinary incontinence OMIM:177170 COMP 1311 HP:0010582 Irregular epiphyses OMIM:177170 COMP 1311 HP:0000763 Sensory neuropathy OMIM:177170 COMP 1311 HP:0002834 Flared femoral metaphysis OMIM:177170 COMP 1311 HP:0002650 Scoliosis OMIM:177170 COMP 1311 HP:0002808 Kyphosis OMIM:177170 COMP 1311 HP:0000944 Abnormality of the metaphyses OMIM:177170 COMP 1311 HP:0002515 Waddling gait OMIM:177170 COMP 1311 HP:0002341 Cervical cord compression OMIM:177170 COMP 1311 HP:0001388 Joint laxity OMIM:177170 COMP 1311 HP:0002829 Arthralgia OMIM:177170 COMP 1311 HP:0004568 Beaking of vertebral bodies OMIM:177170 COMP 1311 HP:0001498 Carpal bone hypoplasia OMIM:177170 COMP 1311 HP:0002983 Micromelia OMIM:177170 COMP 1311 HP:0004236 Irregular carpal bones OMIM:177170 COMP 1311 HP:0004042 Ulnar metaphyseal irregularity OMIM:177170 COMP 1311 HP:0009487 Ulnar deviation of the hand OMIM:177170 COMP 1311 HP:0002758 Osteoarthritis OMIM:177170 COMP 1311 HP:0002750 Delayed skeletal maturation OMIM:177170 COMP 1311 HP:0002938 Lumbar hyperlordosis OMIM:177170 COMP 1311 HP:0002970 Genu varum OMIM:177170 COMP 1311 HP:0001380 Ligamentous laxity OMIM:177170 COMP 1311 HP:0002857 Genu valgum OMIM:177170 COMP 1311 HP:0011405 Childhood onset short-limb short stature OMIM:177170 COMP 1311 HP:0001163 Abnormality of the metacarpal bones OMIM:177170 COMP 1311 HP:0003311 Hypoplasia of the odontoid process OMIM:177170 COMP 1311 HP:0000926 Platyspondyly OMIM:177170 COMP 1311 HP:0008873 Disproportionate short-limb short stature OMIM:177170 COMP 1311 HP:0003026 Short long bone OMIM:177170 COMP 1311 HP:0010236 Small epiphyses of the phalanges of the hand OMIM:177170 COMP 1311 HP:0000006 Autosomal dominant inheritance OMIM:177170 COMP 1311 HP:0001377 Limited elbow extension OMIM:177170 COMP 1311 HP:0001379 Degenerative joint disease OMIM:177170 COMP 1311 HP:0001156 Brachydactyly syndrome OMIM:177170 COMP 1311 HP:0003307 Hyperlordosis OMIM:177170 COMP 1311 HP:0004019 Radial metaphyseal irregularity OMIM:177170 COMP 1311 HP:0009882 Short distal phalanx of finger OMIM:177170 COMP 1311 HP:0010049 Short metacarpal OMIM:177170 COMP 1311 HP:0002663 Delayed epiphyseal ossification OMIM:177170 COMP 1311 HP:0003414 Atlantoaxial dislocation OMIM:177170 COMP 1311 HP:0100168 Fragmented epiphyses OMIM:177170 COMP 1311 HP:0005063 Fragmented, irregular epiphyses OMIM:177170 COMP 1311 HP:0001288 Gait disturbance OMIM:177170 COMP 1311 HP:0012307 Spatulate ribs OMIM:177170 COMP 1311 HP:0001831 Short toe OMIM:177170 COMP 1311 HP:0003049 Ulnar deviation of the wrist OMIM:177170 COMP 1311 HP:0001382 Joint hypermobility OMIM:177170 COMP 1311 HP:0002816 Genu recurvatum OMIM:177170 COMP 1311 HP:0003093 Limited hip extension OMIM:177170 COMP 1311 HP:0001376 Limitation of joint mobility OMIM:177170 COMP 1311 HP:0003272 Abnormality of the hip bone OMIM:233710 NCF2 4688 HP:0005406 Recurrent bacterial skin infections OMIM:233710 NCF2 4688 HP:0002955 Granulomatosis OMIM:233710 NCF2 4688 HP:0002755 Osteomyelitis due to immunodeficiency OMIM:233710 NCF2 4688 HP:0003206 Decreased activity of NADPH oxidase OMIM:233710 NCF2 4688 HP:0002740 Recurrent E. coli infections OMIM:233710 NCF2 4688 HP:0002840 Lymphadenitis OMIM:233710 NCF2 4688 HP:0000976 Eczematoid dermatitis OMIM:233710 NCF2 4688 HP:0002842 Recurrent Burkholderia cepacia infections OMIM:233710 NCF2 4688 HP:0001400 Hepatic abscesses due to immunodeficiency OMIM:233710 NCF2 4688 HP:0001744 Splenomegaly OMIM:233710 NCF2 4688 HP:0003203 Negative nitroblue tetrazolium (NBT) reduction test OMIM:233710 NCF2 4688 HP:0000007 Autosomal recessive inheritance OMIM:233710 NCF2 4688 HP:0002742 Recurrent Klebsiella infections OMIM:233710 NCF2 4688 HP:0005224 Rectal abscess OMIM:233710 NCF2 4688 HP:0002240 Hepatomegaly OMIM:233710 NCF2 4688 HP:0002726 Recurrent Staphylococcus aureus infections OMIM:233710 NCF2 4688 HP:0006532 Recurrent pneumonia OMIM:233710 NCF2 4688 HP:0003621 Juvenile onset OMIM:233710 NCF2 4688 HP:0007417 Discoid lupus erythematosus OMIM:233710 NCF2 4688 HP:0002723 Absence of bactericidal oxidative 'respiratory burst' in phagocytes OMIM:233710 NCF2 4688 HP:0002741 Recurrent Serratia marcescens infections OMIM:233710 NCF2 4688 HP:0002716 Lymphadenopathy OMIM:233710 NCF2 4688 HP:0003553 Cellulitis due to immunodeficiency OMIM:233710 NCF2 4688 HP:0002724 Recurrent Aspergillus infections OMIM:256500 SPINK5 11005 HP:0100665 Angioedema OMIM:256500 SPINK5 11005 HP:0007400 Irregular hyperpigmentation OMIM:256500 SPINK5 11005 HP:0002299 Brittle hair OMIM:256500 SPINK5 11005 HP:0002099 Asthma OMIM:256500 SPINK5 11005 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:256500 SPINK5 11005 HP:0001025 Urticaria OMIM:256500 SPINK5 11005 HP:0004906 Hypernatremic dehydration OMIM:256500 SPINK5 11005 HP:0000956 Acanthosis nigricans OMIM:256500 SPINK5 11005 HP:0004322 Short stature OMIM:256500 SPINK5 11005 HP:0000958 Dry skin OMIM:256500 SPINK5 11005 HP:0000964 Eczema OMIM:256500 SPINK5 11005 HP:0011362 Abnormal hair quantity OMIM:256500 SPINK5 11005 HP:0001508 Failure to thrive OMIM:256500 SPINK5 11005 HP:0002209 Sparse scalp hair OMIM:256500 SPINK5 11005 HP:0100543 Cognitive impairment OMIM:256500 SPINK5 11005 HP:0002024 Malabsorption OMIM:256500 SPINK5 11005 HP:0011473 Villous atrophy OMIM:256500 SPINK5 11005 HP:0001263 Global developmental delay OMIM:256500 SPINK5 11005 HP:0002719 Recurrent infections OMIM:256500 SPINK5 11005 HP:0003011 Abnormality of the musculature OMIM:256500 SPINK5 11005 HP:0000007 Autosomal recessive inheritance OMIM:256500 SPINK5 11005 HP:0003212 Increased IgE level OMIM:256500 SPINK5 11005 HP:0002213 Fine hair OMIM:256500 SPINK5 11005 HP:0001944 Dehydration OMIM:256500 SPINK5 11005 HP:0007479 Congenital nonbullous ichthyosiform erythroderma OMIM:256500 SPINK5 11005 HP:0001250 Seizures OMIM:256500 SPINK5 11005 HP:0002097 Emphysema OMIM:256500 SPINK5 11005 HP:0000535 Sparse eyebrow OMIM:256500 SPINK5 11005 HP:0004313 Hypogammaglobulinemia OMIM:256500 SPINK5 11005 HP:0002205 Recurrent respiratory infections OMIM:256500 SPINK5 11005 HP:0000988 Skin rash OMIM:256500 SPINK5 11005 HP:0001019 Erythroderma OMIM:256500 SPINK5 11005 HP:0100542 Abnormal localization of kidney OMIM:256500 SPINK5 11005 HP:0003355 Aminoaciduria OMIM:612227 PAX4 5078 HP:0006279 Beta-cell dysfunction OMIM:612227 PAX4 5078 HP:0001426 Multifactorial inheritance OMIM:612227 PAX4 5078 HP:0001993 Ketoacidosis OMIM:612227 PAX4 5078 HP:0000855 Insulin resistance OMIM:612227 PAX4 5078 HP:0002960 Autoimmunity OMIM:612227 PAX4 5078 HP:0000819 Diabetes mellitus OMIM:615182 SLC25A1 6576 HP:0001250 Seizures OMIM:615182 SLC25A1 6576 HP:0040144 L-2-hydroxyglutaric aciduria OMIM:615182 SLC25A1 6576 HP:0011968 Feeding difficulties OMIM:615182 SLC25A1 6576 HP:0006829 Severe muscular hypotonia OMIM:615182 SLC25A1 6576 HP:0000256 Macrocephaly OMIM:615182 SLC25A1 6576 HP:0000007 Autosomal recessive inheritance OMIM:615182 SLC25A1 6576 HP:0001263 Global developmental delay OMIM:615182 SLC25A1 6576 HP:0010307 Stridor OMIM:615182 SLC25A1 6576 HP:0001321 Cerebellar hypoplasia OMIM:615182 SLC25A1 6576 HP:0002094 Dyspnea OMIM:615182 SLC25A1 6576 HP:0002119 Ventriculomegaly OMIM:615182 SLC25A1 6576 HP:0012448 Delayed myelination OMIM:615182 SLC25A1 6576 HP:0000252 Microcephaly OMIM:615182 SLC25A1 6576 HP:0100704 Cortical visual impairment OMIM:615182 SLC25A1 6576 HP:0000817 Poor eye contact OMIM:615182 SLC25A1 6576 HP:0001298 Encephalopathy OMIM:615182 SLC25A1 6576 HP:0002240 Hepatomegaly OMIM:615182 SLC25A1 6576 HP:0000737 Irritability OMIM:615207 IL21R 50615 HP:0002090 Pneumonia OMIM:615207 IL21R 50615 HP:0001399 Hepatic failure OMIM:615207 IL21R 50615 HP:0030151 Cholangitis OMIM:615207 IL21R 50615 HP:0001508 Failure to thrive OMIM:615207 IL21R 50615 HP:0000007 Autosomal recessive inheritance OMIM:615207 IL21R 50615 HP:0002110 Bronchiectasis OMIM:615207 IL21R 50615 HP:0002028 Chronic diarrhea OMIM:615207 IL21R 50615 HP:0011108 Recurrent sinusitis OMIM:615207 IL21R 50615 HP:0200124 Chronic hepatitis due to cryptospridium infection OMIM:615207 IL21R 50615 HP:0001394 Cirrhosis OMIM:615207 IL21R 50615 HP:0002721 Immunodeficiency OMIM:307030 GK 2710 HP:0002572 Episodic vomiting OMIM:307030 GK 2710 HP:0003198 Myopathy OMIM:307030 GK 2710 HP:0002155 Hypertriglyceridemia OMIM:307030 GK 2710 HP:0008182 Adrenocortical hypoplasia OMIM:307030 GK 2710 HP:0003457 EMG abnormality OMIM:307030 GK 2710 HP:0002353 EEG abnormality OMIM:307030 GK 2710 HP:0001993 Ketoacidosis OMIM:307030 GK 2710 HP:0001250 Seizures OMIM:307030 GK 2710 HP:0002650 Scoliosis OMIM:307030 GK 2710 HP:0001518 Small for gestational age OMIM:307030 GK 2710 HP:0000369 Low-set ears OMIM:307030 GK 2710 HP:0000846 Adrenal insufficiency OMIM:307030 GK 2710 HP:0001259 Coma OMIM:307030 GK 2710 HP:0002756 Pathologic fracture OMIM:307030 GK 2710 HP:0008207 Primary adrenal insufficiency OMIM:307030 GK 2710 HP:0002714 Downturned corners of mouth OMIM:307030 GK 2710 HP:0001942 Metabolic acidosis OMIM:307030 GK 2710 HP:0100543 Cognitive impairment OMIM:307030 GK 2710 HP:0002167 Neurological speech impairment OMIM:307030 GK 2710 HP:0001254 Lethargy OMIM:307030 GK 2710 HP:0004322 Short stature OMIM:307030 GK 2710 HP:0001252 Muscular hypotonia OMIM:307030 GK 2710 HP:0004349 Reduced bone mineral density OMIM:307030 GK 2710 HP:0001315 Reduced tendon reflexes OMIM:307030 GK 2710 HP:0000939 Osteoporosis OMIM:307030 GK 2710 HP:0001423 X-linked dominant inheritance OMIM:307030 GK 2710 HP:0000486 Strabismus OMIM:307030 GK 2710 HP:0001249 Intellectual disability OMIM:307030 GK 2710 HP:0003560 Muscular dystrophy OMIM:307030 GK 2710 HP:0001999 Abnormal facial shape OMIM:307030 GK 2710 HP:0001419 X-linked recessive inheritance OMIM:307030 GK 2710 HP:0001263 Global developmental delay OMIM:307030 GK 2710 HP:0002007 Frontal bossing OMIM:307030 GK 2710 HP:0003307 Hyperlordosis OMIM:307030 GK 2710 HP:0000028 Cryptorchidism OMIM:307030 GK 2710 HP:0000316 Hypertelorism OMIM:307030 GK 2710 HP:0001939 Abnormality of metabolism/homeostasis OMIM:307030 GK 2710 HP:0001943 Hypoglycemia OMIM:121800 UBIAD1 29914 HP:0007760 Crystalline corneal dystrophy OMIM:121800 UBIAD1 29914 HP:0000006 Autosomal dominant inheritance OMIM:121800 UBIAD1 29914 HP:0001131 Corneal dystrophy OMIM:615860 TTLL5 23093 HP:0000548 Cone-rod dystrophy OMIM:151600 PLCD1 5333 HP:0008388 Abnormality of the toenails OMIM:151600 PLCD1 5333 HP:0000006 Autosomal dominant inheritance OMIM:151600 PLCD1 5333 HP:0005978 Type II diabetes mellitus OMIM:151600 PLCD1 5333 HP:0000787 Nephrolithiasis OMIM:151600 PLCD1 5333 HP:0009720 Adenoma sebaceum OMIM:151600 PLCD1 5333 HP:0000498 Blepharitis OMIM:151600 PLCD1 5333 HP:0001598 Concave nail OMIM:151600 PLCD1 5333 HP:0000613 Photophobia OMIM:151600 PLCD1 5333 HP:0000007 Autosomal recessive inheritance OMIM:151600 PLCD1 5333 HP:0001820 Leukonychia OMIM:151600 PLCD1 5333 HP:0001231 Abnormality of the fingernails OMIM:129490 EDAR 10913 HP:0002217 Slow-growing hair OMIM:129490 EDAR 10913 HP:0000966 Hypohidrosis OMIM:129490 EDAR 10913 HP:0000535 Sparse eyebrow OMIM:129490 EDAR 10913 HP:0001006 Hypotrichosis OMIM:129490 EDAR 10913 HP:0000006 Autosomal dominant inheritance OMIM:129490 EDAR 10913 HP:0000653 Sparse eyelashes OMIM:129490 EDAR 10913 HP:0000691 Microdontia OMIM:129490 EDAR 10913 HP:0001425 Heterogeneous OMIM:129490 EDAR 10913 HP:0000968 Ectodermal dysplasia OMIM:129490 EDAR 10913 HP:0000668 Hypodontia OMIM:129490 EDAR 10913 HP:0000958 Dry skin OMIM:129490 EDAR 10913 HP:0002164 Nail dysplasia OMIM:129490 EDAR 10913 HP:0000674 Anodontia OMIM:129490 EDAR 10913 HP:0002046 Heat intolerance OMIM:129490 EDAR 10913 HP:0002213 Fine hair OMIM:616053 CCDC88C 440193 HP:0002317 Unsteady gait OMIM:616053 CCDC88C 440193 HP:0002075 Dysdiadochokinesis OMIM:616053 CCDC88C 440193 HP:0006879 Pontocerebellar atrophy OMIM:616053 CCDC88C 440193 HP:0002313 Spastic paraparesis OMIM:616053 CCDC88C 440193 HP:0001260 Dysarthria OMIM:616053 CCDC88C 440193 HP:0002080 Intention tremor OMIM:616053 CCDC88C 440193 HP:0002136 Broad-based gait OMIM:616053 CCDC88C 440193 HP:0001347 Hyperreflexia OMIM:613582 PDE6G 5148 HP:0000510 Retinitis pigmentosa OMIM:613582 PDE6G 5148 HP:0011505 Cystoid macular edema OMIM:613582 PDE6G 5148 HP:0000007 Autosomal recessive inheritance OMIM:613582 PDE6G 5148 HP:0000543 Optic disc pallor OMIM:613582 PDE6G 5148 HP:0007843 Attenuation of retinal blood vessels OMIM:267000 DIS3L2 129563 HP:0000508 Ptosis OMIM:267000 DIS3L2 129563 HP:0001561 Polyhydramnios OMIM:267000 DIS3L2 129563 HP:0000347 Micrognathia OMIM:267000 DIS3L2 129563 HP:0100543 Cognitive impairment OMIM:267000 DIS3L2 129563 HP:0005280 Depressed nasal bridge OMIM:267000 DIS3L2 129563 HP:0000391 Thickened helices OMIM:267000 DIS3L2 129563 HP:0000194 Open mouth OMIM:267000 DIS3L2 129563 HP:0001274 Agenesis of corpus callosum OMIM:267000 DIS3L2 129563 HP:0200116 Distal ileal atresia OMIM:267000 DIS3L2 129563 HP:0000098 Tall stature OMIM:267000 DIS3L2 129563 HP:0001250 Seizures OMIM:267000 DIS3L2 129563 HP:0000776 Congenital diaphragmatic hernia OMIM:267000 DIS3L2 129563 HP:0000431 Wide nasal bridge OMIM:267000 DIS3L2 129563 HP:0000969 Edema OMIM:267000 DIS3L2 129563 HP:0000288 Abnormality of the philtrum OMIM:267000 DIS3L2 129563 HP:0008643 Nephroblastomatosis OMIM:267000 DIS3L2 129563 HP:0000842 Hyperinsulinemia OMIM:267000 DIS3L2 129563 HP:0000256 Macrocephaly OMIM:267000 DIS3L2 129563 HP:0002667 Nephroblastoma (Wilms tumor) OMIM:267000 DIS3L2 129563 HP:0011611 Interrupted aortic arch OMIM:267000 DIS3L2 129563 HP:0002240 Hepatomegaly OMIM:267000 DIS3L2 129563 HP:0004299 Hernia of the abdominal wall OMIM:267000 DIS3L2 129563 HP:0002580 Volvulus OMIM:267000 DIS3L2 129563 HP:0011341 Long upper lip OMIM:267000 DIS3L2 129563 HP:0000028 Cryptorchidism OMIM:267000 DIS3L2 129563 HP:0008696 Renal hamartoma OMIM:267000 DIS3L2 129563 HP:0010804 Tented upper lip vermilion OMIM:267000 DIS3L2 129563 HP:0000369 Low-set ears OMIM:267000 DIS3L2 129563 HP:0000007 Autosomal recessive inheritance OMIM:267000 DIS3L2 129563 HP:0000187 Broad alveolar ridges OMIM:267000 DIS3L2 129563 HP:0001263 Global developmental delay OMIM:267000 DIS3L2 129563 HP:0003271 Visceromegaly OMIM:267000 DIS3L2 129563 HP:0000311 Round face OMIM:267000 DIS3L2 129563 HP:0000954 Single transverse palmar crease OMIM:267000 DIS3L2 129563 HP:0001520 Large for gestational age OMIM:267000 DIS3L2 129563 HP:0000463 Anteverted nares OMIM:267000 DIS3L2 129563 HP:0000286 Epicanthus OMIM:267000 DIS3L2 129563 HP:0008736 Hypoplasia of penis OMIM:267000 DIS3L2 129563 HP:0000268 Dolichocephaly OMIM:267000 DIS3L2 129563 HP:0000368 Low-set, posteriorly rotated ears OMIM:267000 DIS3L2 129563 HP:0000490 Deeply set eye OMIM:267000 DIS3L2 129563 HP:0000348 High forehead OMIM:267000 DIS3L2 129563 HP:0001541 Ascites OMIM:267000 DIS3L2 129563 HP:0100880 Nephrogenic rest OMIM:267000 DIS3L2 129563 HP:0001999 Abnormal facial shape OMIM:267000 DIS3L2 129563 HP:0003196 Short nose OMIM:267000 DIS3L2 129563 HP:0005247 Hypoplasia of the abdominal wall musculature OMIM:267000 DIS3L2 129563 HP:0000174 Abnormality of the palate OMIM:267000 DIS3L2 129563 HP:0001252 Muscular hypotonia OMIM:267000 DIS3L2 129563 HP:0001732 Abnormality of the pancreas OMIM:267000 DIS3L2 129563 HP:0004510 Pancreatic islet-cell hyperplasia OMIM:248900 SPG21 51324 HP:0001317 Abnormality of the cerebellum OMIM:248900 SPG21 51324 HP:0001260 Dysarthria OMIM:248900 SPG21 51324 HP:0002015 Dysphagia OMIM:248900 SPG21 51324 HP:0000007 Autosomal recessive inheritance OMIM:248900 SPG21 51324 HP:0002186 Apraxia OMIM:248900 SPG21 51324 HP:0000726 Dementia OMIM:248900 SPG21 51324 HP:0002313 Spastic paraparesis OMIM:248900 SPG21 51324 HP:0001258 Spastic paraplegia OMIM:248900 SPG21 51324 HP:0012672 Akinetic mutism OMIM:248900 SPG21 51324 HP:0003487 Babinski sign OMIM:248900 SPG21 51324 HP:0001270 Motor delay OMIM:248900 SPG21 51324 HP:0009830 Peripheral neuropathy OMIM:248900 SPG21 51324 HP:0001288 Gait disturbance OMIM:248900 SPG21 51324 HP:0007340 Lower limb muscle weakness OMIM:248900 SPG21 51324 HP:0001347 Hyperreflexia OMIM:248900 SPG21 51324 HP:0002476 Primitive reflexes (palmomental, snout, glabellar) OMIM:248900 SPG21 51324 HP:0003674 Onset OMIM:251750 LTBP2 4053 HP:0000540 Hypermetropia OMIM:251750 LTBP2 4053 HP:0000218 High palate OMIM:251750 LTBP2 4053 HP:0100693 Iridodonesis OMIM:251750 LTBP2 4053 HP:0007765 Deep anterior chamber OMIM:251750 LTBP2 4053 HP:0001083 Ectopia lentis OMIM:251750 LTBP2 4053 HP:0000485 Megalocornea OMIM:251750 LTBP2 4053 HP:0000007 Autosomal recessive inheritance OMIM:134610 MEFV 4210 HP:0002586 Peritonitis OMIM:134610 MEFV 4210 HP:0000093 Proteinuria OMIM:134610 MEFV 4210 HP:0000083 Renal insufficiency OMIM:134610 MEFV 4210 HP:0100749 Chest pain OMIM:134610 MEFV 4210 HP:0002102 Pleuritis OMIM:134610 MEFV 4210 HP:0002829 Arthralgia OMIM:134610 MEFV 4210 HP:0000006 Autosomal dominant inheritance OMIM:134610 MEFV 4210 HP:0001369 Arthritis OMIM:134610 MEFV 4210 HP:0002027 Abdominal pain OMIM:134610 MEFV 4210 HP:0003621 Juvenile onset OMIM:134610 MEFV 4210 HP:0001954 Episodic fever OMIM:134610 MEFV 4210 HP:0005764 Polyarticular arthritis OMIM:134610 MEFV 4210 HP:0001917 Renal amyloidosis OMIM:601495 IGHM 3507 HP:0002743 Recurrent enteroviral infections OMIM:601495 IGHM 3507 HP:0000007 Autosomal recessive inheritance OMIM:601495 IGHM 3507 HP:0002718 Recurrent bacterial infections OMIM:601495 IGHM 3507 HP:0006532 Recurrent pneumonia OMIM:601495 IGHM 3507 HP:0100280 Crohn's disease OMIM:601495 IGHM 3507 HP:0004432 Agammaglobulinemia OMIM:601495 IGHM 3507 HP:0011108 Recurrent sinusitis OMIM:601495 IGHM 3507 HP:0010976 B lymphocytopenia OMIM:601495 IGHM 3507 HP:0001508 Failure to thrive OMIM:601495 IGHM 3507 HP:0002110 Bronchiectasis OMIM:601495 IGHM 3507 HP:0000403 Recurrent otitis media OMIM:601495 IGHM 3507 HP:0001875 Neutropenia OMIM:601495 IGHM 3507 HP:0002014 Diarrhea OMIM:601495 IGHM 3507 HP:0003593 Infantile onset OMIM:601495 IGHM 3507 HP:0000509 Conjunctivitis OMIM:300387 ACSL4 2182 HP:0001417 X-linked inheritance OMIM:300387 ACSL4 2182 HP:0001249 Intellectual disability OMIM:615859 DOCK7 85440 HP:0002521 Hypsarrhythmia OMIM:615859 DOCK7 85440 HP:0012110 Hypoplasia of the pons OMIM:615859 DOCK7 85440 HP:0000629 Periorbital fullness OMIM:615859 DOCK7 85440 HP:0000377 Abnormality of the pinna OMIM:615859 DOCK7 85440 HP:0001263 Global developmental delay OMIM:615859 DOCK7 85440 HP:0200134 Epileptic encephalopathy OMIM:615859 DOCK7 85440 HP:0000574 Thick eyebrow OMIM:615859 DOCK7 85440 HP:0000294 Low anterior hairline OMIM:615859 DOCK7 85440 HP:0000322 Short philtrum OMIM:615859 DOCK7 85440 HP:0002079 Hypoplasia of the corpus callosum OMIM:615859 DOCK7 85440 HP:0000341 Narrow forehead OMIM:615859 DOCK7 85440 HP:0000506 Telecanthus OMIM:615859 DOCK7 85440 HP:0000455 Broad nasal tip OMIM:615859 DOCK7 85440 HP:0100704 Cortical visual impairment OMIM:615859 DOCK7 85440 HP:0012471 Thick vermilion border OMIM:120330 PAX2 5076 HP:0000006 Autosomal dominant inheritance OMIM:120330 PAX2 5076 HP:0001388 Joint laxity OMIM:120330 PAX2 5076 HP:0000518 Cataract OMIM:120330 PAX2 5076 HP:0003774 Stage 5 chronic kidney disease OMIM:120330 PAX2 5076 HP:0000533 Chorioretinal atrophy OMIM:120330 PAX2 5076 HP:0004712 Renal malrotation OMIM:120330 PAX2 5076 HP:0000545 Myopia OMIM:120330 PAX2 5076 HP:0007099 Arnold-Chiari type I malformation OMIM:120330 PAX2 5076 HP:0002171 Gliosis OMIM:120330 PAX2 5076 HP:0000974 Hyperextensible skin OMIM:120330 PAX2 5076 HP:0001250 Seizures OMIM:120330 PAX2 5076 HP:0000486 Strabismus OMIM:120330 PAX2 5076 HP:0000588 Optic nerve coloboma OMIM:120330 PAX2 5076 HP:0000608 Macular degeneration OMIM:120330 PAX2 5076 HP:0000407 Sensorineural hearing impairment OMIM:120330 PAX2 5076 HP:0001249 Intellectual disability OMIM:120330 PAX2 5076 HP:0000089 Renal hypoplasia OMIM:120330 PAX2 5076 HP:0001144 Orbital cyst OMIM:120330 PAX2 5076 HP:0000480 Retinal coloboma OMIM:120330 PAX2 5076 HP:0003593 Infantile onset OMIM:120330 PAX2 5076 HP:0000093 Proteinuria OMIM:120330 PAX2 5076 HP:0000003 Multicystic kidney dysplasia OMIM:120330 PAX2 5076 HP:0000076 Vesicoureteral reflux OMIM:120330 PAX2 5076 HP:0000787 Nephrolithiasis OMIM:120330 PAX2 5076 HP:0000977 Soft skin OMIM:120330 PAX2 5076 HP:0000568 Microphthalmos OMIM:120330 PAX2 5076 HP:0000085 Horseshoe kidney OMIM:120330 PAX2 5076 HP:0000541 Retinal detachment OMIM:120330 PAX2 5076 HP:0011509 Macular hyperpigmentation OMIM:120330 PAX2 5076 HP:0001382 Joint hypermobility OMIM:120330 PAX2 5076 HP:0000639 Nystagmus OMIM:120330 PAX2 5076 HP:0000648 Optic atrophy OMIM:120330 PAX2 5076 HP:0000505 Visual impairment OMIM:120330 PAX2 5076 HP:0003812 Phenotypic variability OMIM:120330 PAX2 5076 HP:0000567 Chorioretinal coloboma OMIM:120330 PAX2 5076 HP:0000969 Edema OMIM:120330 PAX2 5076 HP:0012019 Lens luxation OMIM:309585 HDAC8 55869 HP:0001513 Obesity OMIM:309585 HDAC8 55869 HP:0001369 Arthritis OMIM:309585 HDAC8 55869 HP:0001288 Gait disturbance OMIM:309585 HDAC8 55869 HP:0001956 Truncal obesity OMIM:309585 HDAC8 55869 HP:0400005 Short ear OMIM:309585 HDAC8 55869 HP:0002311 Incoordination OMIM:309585 HDAC8 55869 HP:0000823 Delayed puberty OMIM:309585 HDAC8 55869 HP:0001182 Tapered finger OMIM:309585 HDAC8 55869 HP:0001004 Lymphedema OMIM:309585 HDAC8 55869 HP:0002650 Scoliosis OMIM:309585 HDAC8 55869 HP:0000712 Emotional lability OMIM:309585 HDAC8 55869 HP:0001537 Umbilical hernia OMIM:309585 HDAC8 55869 HP:0008734 Decreased testicular size OMIM:309585 HDAC8 55869 HP:0000455 Broad nasal tip OMIM:309585 HDAC8 55869 HP:0009906 Aplasia/Hypoplasia of the earlobes OMIM:309585 HDAC8 55869 HP:0000750 Delayed speech and language development OMIM:309585 HDAC8 55869 HP:0000232 Everted lower lip vermilion OMIM:309585 HDAC8 55869 HP:0000054 Micropenis OMIM:309585 HDAC8 55869 HP:0003199 Decreased muscle mass OMIM:309585 HDAC8 55869 HP:0001773 Short foot OMIM:309585 HDAC8 55869 HP:0009804 Reduced number of teeth OMIM:309585 HDAC8 55869 HP:0000160 Narrow mouth OMIM:309585 HDAC8 55869 HP:0001423 X-linked dominant inheritance OMIM:309585 HDAC8 55869 HP:0002167 Neurological speech impairment OMIM:309585 HDAC8 55869 HP:0001419 X-linked recessive inheritance OMIM:309585 HDAC8 55869 HP:0000248 Brachycephaly OMIM:309585 HDAC8 55869 HP:0001608 Abnormality of the voice OMIM:309585 HDAC8 55869 HP:0000664 Synophrys OMIM:309585 HDAC8 55869 HP:0100543 Cognitive impairment OMIM:309585 HDAC8 55869 HP:0001252 Muscular hypotonia OMIM:309585 HDAC8 55869 HP:0000303 Mandibular prognathia OMIM:309585 HDAC8 55869 HP:0000028 Cryptorchidism OMIM:309585 HDAC8 55869 HP:0000307 Pointed chin OMIM:309585 HDAC8 55869 HP:0000490 Deeply set eye OMIM:309585 HDAC8 55869 HP:0001250 Seizures OMIM:309585 HDAC8 55869 HP:0002808 Kyphosis OMIM:309585 HDAC8 55869 HP:0009748 Large earlobe OMIM:309585 HDAC8 55869 HP:0100830 Round ear OMIM:309585 HDAC8 55869 HP:0001249 Intellectual disability OMIM:309585 HDAC8 55869 HP:0000692 Misalignment of teeth OMIM:309585 HDAC8 55869 HP:0000384 Preauricular skin tag OMIM:309585 HDAC8 55869 HP:0000574 Thick eyebrow OMIM:309585 HDAC8 55869 HP:0004279 Short palm OMIM:309585 HDAC8 55869 HP:0000771 Gynecomastia OMIM:309585 HDAC8 55869 HP:0000278 Retrognathia OMIM:309585 HDAC8 55869 HP:0000135 Hypogonadism OMIM:309585 HDAC8 55869 HP:0000280 Coarse facial features OMIM:309585 HDAC8 55869 HP:0001065 Striae distensae OMIM:309585 HDAC8 55869 HP:0000252 Microcephaly OMIM:309585 HDAC8 55869 HP:0002648 Abnormality of calvarial morphology OMIM:309585 HDAC8 55869 HP:0004322 Short stature OMIM:309585 HDAC8 55869 HP:0000336 Prominent supraorbital ridges OMIM:309585 HDAC8 55869 HP:0200055 Small hand OMIM:309585 HDAC8 55869 HP:0100603 Toxemia of pregnancy OMIM:309585 HDAC8 55869 HP:0008736 Hypoplasia of penis OMIM:309585 HDAC8 55869 HP:0000400 Macrotia OMIM:614887 PEX14 5195 HP:0002269 Abnormality of neuronal migration OMIM:614887 PEX14 5195 HP:0000268 Dolichocephaly OMIM:614887 PEX14 5195 HP:0001476 Delayed closure of the anterior fontanelle OMIM:614887 PEX14 5195 HP:0000007 Autosomal recessive inheritance OMIM:614887 PEX14 5195 HP:0011968 Feeding difficulties OMIM:614887 PEX14 5195 HP:0002240 Hepatomegaly OMIM:614887 PEX14 5195 HP:0000348 High forehead OMIM:614887 PEX14 5195 HP:0011398 Central hypotonia OMIM:614887 PEX14 5195 HP:0000478 Abnormality of the eye OMIM:614887 PEX14 5195 HP:0000422 Abnormality of the nasal bridge OMIM:614887 PEX14 5195 HP:0000239 Large fontanelles OMIM:614887 PEX14 5195 HP:0005469 Flat occiput OMIM:614887 PEX14 5195 HP:0001250 Seizures OMIM:614887 PEX14 5195 HP:0000325 Triangular face OMIM:126700 CFH 3075 HP:0000529 Progressive visual loss OMIM:126700 CFH 3075 HP:0000006 Autosomal dominant inheritance OMIM:276880 UROC1 131669 HP:0000007 Autosomal recessive inheritance OMIM:276880 UROC1 131669 HP:0004322 Short stature OMIM:276880 UROC1 131669 HP:0012237 Urocanic aciduria OMIM:276880 UROC1 131669 HP:0006887 Intellectual disability, progressive OMIM:276880 UROC1 131669 HP:0000639 Nystagmus OMIM:276880 UROC1 131669 HP:0000635 Blue irides OMIM:276880 UROC1 131669 HP:0002286 Fair hair OMIM:276880 UROC1 131669 HP:0001251 Ataxia OMIM:276880 UROC1 131669 HP:0000718 Aggressive behavior OMIM:276880 UROC1 131669 HP:0010864 Intellectual disability, severe OMIM:276880 UROC1 131669 HP:0001337 Tremor OMIM:300498 ZNF81 347344 HP:0001419 X-linked recessive inheritance OMIM:300498 ZNF81 347344 HP:0001249 Intellectual disability OMIM:300498 ZNF81 347344 HP:0000400 Macrotia OMIM:263400 VHL 7428 HP:0001898 Increased red blood cell mass OMIM:263400 VHL 7428 HP:0001028 Hemangioma OMIM:263400 VHL 7428 HP:0001899 Increased hematocrit OMIM:263400 VHL 7428 HP:0001050 Plethora OMIM:263400 VHL 7428 HP:0000007 Autosomal recessive inheritance OMIM:263400 VHL 7428 HP:0002615 Hypotension OMIM:263400 VHL 7428 HP:0001297 Stroke OMIM:263400 VHL 7428 HP:0001342 Cerebral hemorrhage OMIM:263400 VHL 7428 HP:0012378 Fatigue OMIM:263400 VHL 7428 HP:0002315 Headache OMIM:263400 VHL 7428 HP:0001900 Increased hemoglobin OMIM:263400 VHL 7428 HP:0002641 Peripheral thrombosis OMIM:263400 VHL 7428 HP:0002619 Varicose veins OMIM:171300 RET 5979 HP:0001028 Hemangioma OMIM:171300 RET 5979 HP:0003574 Positive regitine blocking test OMIM:171300 RET 5979 HP:0001095 Hypertensive retinopathy OMIM:171300 RET 5979 HP:0001920 Renal artery stenosis OMIM:171300 RET 5979 HP:0001635 Congestive heart failure OMIM:171300 RET 5979 HP:0000006 Autosomal dominant inheritance OMIM:171300 RET 5979 HP:0003072 Hypercalcemia OMIM:171300 RET 5979 HP:0000093 Proteinuria OMIM:171300 RET 5979 HP:0000975 Hyperhidrosis OMIM:171300 RET 5979 HP:0003345 Elevated urinary norepinephrine OMIM:171300 RET 5979 HP:0002664 Neoplasm OMIM:171300 RET 5979 HP:0000875 Episodic hypertension OMIM:171300 RET 5979 HP:0001649 Tachycardia OMIM:171300 RET 5979 HP:0000957 Cafe-au-lait spot OMIM:171300 RET 5979 HP:0002666 Pheochromocytoma OMIM:171300 RET 5979 HP:0000519 Congenital cataract OMIM:171300 RET 5979 HP:0001342 Cerebral hemorrhage OMIM:171300 KIF1B 23095 HP:0001028 Hemangioma OMIM:171300 KIF1B 23095 HP:0003574 Positive regitine blocking test OMIM:171300 KIF1B 23095 HP:0001095 Hypertensive retinopathy OMIM:171300 KIF1B 23095 HP:0001920 Renal artery stenosis OMIM:171300 KIF1B 23095 HP:0001635 Congestive heart failure OMIM:171300 KIF1B 23095 HP:0000006 Autosomal dominant inheritance OMIM:171300 KIF1B 23095 HP:0003072 Hypercalcemia OMIM:171300 KIF1B 23095 HP:0000093 Proteinuria OMIM:171300 KIF1B 23095 HP:0000975 Hyperhidrosis OMIM:171300 KIF1B 23095 HP:0003345 Elevated urinary norepinephrine OMIM:171300 KIF1B 23095 HP:0002664 Neoplasm OMIM:171300 KIF1B 23095 HP:0000875 Episodic hypertension OMIM:171300 KIF1B 23095 HP:0001649 Tachycardia OMIM:171300 KIF1B 23095 HP:0000957 Cafe-au-lait spot OMIM:171300 KIF1B 23095 HP:0002666 Pheochromocytoma OMIM:171300 KIF1B 23095 HP:0000519 Congenital cataract OMIM:171300 KIF1B 23095 HP:0001342 Cerebral hemorrhage OMIM:171300 SDHD 6392 HP:0001028 Hemangioma OMIM:171300 SDHD 6392 HP:0003574 Positive regitine blocking test OMIM:171300 SDHD 6392 HP:0001095 Hypertensive retinopathy OMIM:171300 SDHD 6392 HP:0001920 Renal artery stenosis OMIM:171300 SDHD 6392 HP:0001635 Congestive heart failure OMIM:171300 SDHD 6392 HP:0000006 Autosomal dominant inheritance OMIM:171300 SDHD 6392 HP:0003072 Hypercalcemia OMIM:171300 SDHD 6392 HP:0000093 Proteinuria OMIM:171300 SDHD 6392 HP:0000975 Hyperhidrosis OMIM:171300 SDHD 6392 HP:0003345 Elevated urinary norepinephrine OMIM:171300 SDHD 6392 HP:0002664 Neoplasm OMIM:171300 SDHD 6392 HP:0000875 Episodic hypertension OMIM:171300 SDHD 6392 HP:0001649 Tachycardia OMIM:171300 SDHD 6392 HP:0000957 Cafe-au-lait spot OMIM:171300 SDHD 6392 HP:0002666 Pheochromocytoma OMIM:171300 SDHD 6392 HP:0000519 Congenital cataract OMIM:171300 SDHD 6392 HP:0001342 Cerebral hemorrhage OMIM:171300 SDHB 6390 HP:0001028 Hemangioma OMIM:171300 SDHB 6390 HP:0003574 Positive regitine blocking test OMIM:171300 SDHB 6390 HP:0001095 Hypertensive retinopathy OMIM:171300 SDHB 6390 HP:0001920 Renal artery stenosis OMIM:171300 SDHB 6390 HP:0001635 Congestive heart failure OMIM:171300 SDHB 6390 HP:0000006 Autosomal dominant inheritance OMIM:171300 SDHB 6390 HP:0003072 Hypercalcemia OMIM:171300 SDHB 6390 HP:0000093 Proteinuria OMIM:171300 SDHB 6390 HP:0000975 Hyperhidrosis OMIM:171300 SDHB 6390 HP:0003345 Elevated urinary norepinephrine OMIM:171300 SDHB 6390 HP:0002664 Neoplasm OMIM:171300 SDHB 6390 HP:0000875 Episodic hypertension OMIM:171300 SDHB 6390 HP:0001649 Tachycardia OMIM:171300 SDHB 6390 HP:0000957 Cafe-au-lait spot OMIM:171300 SDHB 6390 HP:0002666 Pheochromocytoma OMIM:171300 SDHB 6390 HP:0000519 Congenital cataract OMIM:171300 SDHB 6390 HP:0001342 Cerebral hemorrhage OMIM:171300 VHL 7428 HP:0001028 Hemangioma OMIM:171300 VHL 7428 HP:0003574 Positive regitine blocking test OMIM:171300 VHL 7428 HP:0001095 Hypertensive retinopathy OMIM:171300 VHL 7428 HP:0001920 Renal artery stenosis OMIM:171300 VHL 7428 HP:0001635 Congestive heart failure OMIM:171300 VHL 7428 HP:0000006 Autosomal dominant inheritance OMIM:171300 VHL 7428 HP:0003072 Hypercalcemia OMIM:171300 VHL 7428 HP:0000093 Proteinuria OMIM:171300 VHL 7428 HP:0000975 Hyperhidrosis OMIM:171300 VHL 7428 HP:0003345 Elevated urinary norepinephrine OMIM:171300 VHL 7428 HP:0002664 Neoplasm OMIM:171300 VHL 7428 HP:0000875 Episodic hypertension OMIM:171300 VHL 7428 HP:0001649 Tachycardia OMIM:171300 VHL 7428 HP:0000957 Cafe-au-lait spot OMIM:171300 VHL 7428 HP:0002666 Pheochromocytoma OMIM:171300 VHL 7428 HP:0000519 Congenital cataract OMIM:171300 VHL 7428 HP:0001342 Cerebral hemorrhage OMIM:613708 ATL1 51062 HP:0001218 Autoamputation OMIM:613708 ATL1 51062 HP:0003477 Peripheral axonal neuropathy OMIM:613708 ATL1 51062 HP:0003401 Paresthesia OMIM:613708 ATL1 51062 HP:0003581 Adult onset OMIM:613708 ATL1 51062 HP:0001761 Pes cavus OMIM:613708 ATL1 51062 HP:0000006 Autosomal dominant inheritance OMIM:613708 ATL1 51062 HP:0008404 Nail dystrophy OMIM:613708 ATL1 51062 HP:0003693 Distal amyotrophy OMIM:613708 ATL1 51062 HP:0002936 Distal sensory impairment OMIM:613708 ATL1 51062 HP:0002164 Nail dysplasia OMIM:613708 ATL1 51062 HP:0001347 Hyperreflexia OMIM:613708 ATL1 51062 HP:0003676 Progressive disorder OMIM:611126 ACAD9 28976 HP:0001644 Dilated cardiomyopathy OMIM:611126 ACAD9 28976 HP:0002910 Elevated hepatic transaminases OMIM:611126 ACAD9 28976 HP:0001873 Thrombocytopenia OMIM:611126 ACAD9 28976 HP:0001252 Muscular hypotonia OMIM:611126 ACAD9 28976 HP:0003546 Exercise intolerance OMIM:611126 ACAD9 28976 HP:0001324 Muscle weakness OMIM:611126 ACAD9 28976 HP:0000007 Autosomal recessive inheritance OMIM:611126 ACAD9 28976 HP:0001399 Hepatic failure OMIM:611126 ACAD9 28976 HP:0001414 Microvesicular hepatic steatosis OMIM:611126 ACAD9 28976 HP:0001635 Congestive heart failure OMIM:611126 ACAD9 28976 HP:0001639 Hypertrophic cardiomyopathy OMIM:611126 ACAD9 28976 HP:0001943 Hypoglycemia OMIM:611126 ACAD9 28976 HP:0003128 Lactic acidosis OMIM:611126 ACAD9 28976 HP:0001297 Stroke OMIM:611126 ACAD9 28976 HP:0002181 Cerebral edema OMIM:611126 ACAD9 28976 HP:0003215 Dicarboxylic aciduria OMIM:611126 ACAD9 28976 HP:0001298 Encephalopathy OMIM:602771 SEPN1 57190 HP:0000007 Autosomal recessive inheritance OMIM:602771 SEPN1 57190 HP:0002421 Poor head control OMIM:602771 SEPN1 57190 HP:0010628 Facial palsy OMIM:602771 SEPN1 57190 HP:0002877 Nocturnal hypoventilation OMIM:602771 SEPN1 57190 HP:0001547 Abnormality of the rib cage OMIM:602771 SEPN1 57190 HP:0003557 Increased variability in muscle fiber diameter OMIM:602771 SEPN1 57190 HP:0000218 High palate OMIM:602771 SEPN1 57190 HP:0001371 Flexion contracture OMIM:602771 SEPN1 57190 HP:0003700 Generalized amyotrophy OMIM:602771 SEPN1 57190 HP:0002111 Restrictive respiratory insufficiency OMIM:602771 SEPN1 57190 HP:0004322 Short stature OMIM:602771 SEPN1 57190 HP:0003324 Generalized muscle weakness OMIM:602771 SEPN1 57190 HP:0005991 Limited neck flexion OMIM:602771 SEPN1 57190 HP:0001252 Muscular hypotonia OMIM:602771 SEPN1 57190 HP:0001270 Motor delay OMIM:602771 SEPN1 57190 HP:0001620 High pitched voice OMIM:602771 SEPN1 57190 HP:0003593 Infantile onset OMIM:602771 SEPN1 57190 HP:0003327 Axial muscle weakness OMIM:602771 SEPN1 57190 HP:0003306 Spinal rigidity OMIM:602771 SEPN1 57190 HP:0002650 Scoliosis OMIM:602771 SEPN1 57190 HP:0003787 Type 1 and type 2 muscle fiber minicore regions OMIM:602771 SEPN1 57190 HP:0001508 Failure to thrive OMIM:602771 SEPN1 57190 HP:0001611 Nasal speech OMIM:602771 SEPN1 57190 HP:0003680 Nonprogressive disorder OMIM:602771 SEPN1 57190 HP:0003560 Muscular dystrophy OMIM:602771 SEPN1 57190 HP:0002792 Reduced vital capacity OMIM:613382 PTHLH 5744 HP:0010049 Short metacarpal OMIM:613382 PTHLH 5744 HP:0004322 Short stature OMIM:613382 PTHLH 5744 HP:0000684 Delayed eruption of teeth OMIM:613382 PTHLH 5744 HP:0010743 Short metatarsal OMIM:613382 PTHLH 5744 HP:0000677 Oligodontia OMIM:613382 PTHLH 5744 HP:0000006 Autosomal dominant inheritance OMIM:613382 PTHLH 5744 HP:0001156 Brachydactyly syndrome OMIM:300751 ALAS2 212 HP:0004840 Hypochromic microcytic anemia OMIM:300751 ALAS2 212 HP:0001743 Abnormality of the spleen OMIM:300751 ALAS2 212 HP:0003828 Variable expressivity OMIM:300751 ALAS2 212 HP:0001626 Abnormality of the cardiovascular system OMIM:300751 ALAS2 212 HP:0001924 Sideroblastic anemia OMIM:300751 ALAS2 212 HP:0002093 Respiratory insufficiency OMIM:300751 ALAS2 212 HP:0007400 Irregular hyperpigmentation OMIM:300751 ALAS2 212 HP:0001972 Macrocytic anemia OMIM:300751 ALAS2 212 HP:0001903 Anemia OMIM:300751 ALAS2 212 HP:0001419 X-linked recessive inheritance OMIM:300751 ALAS2 212 HP:0005978 Type II diabetes mellitus OMIM:210210 MCCC2 64087 HP:0001596 Alopecia OMIM:210210 MCCC2 64087 HP:0003108 Hyperglycinuria OMIM:210210 MCCC2 64087 HP:0000007 Autosomal recessive inheritance OMIM:210210 MCCC2 64087 HP:0001252 Muscular hypotonia OMIM:210210 MCCC2 64087 HP:0003353 Propionyl-CoA carboxylase deficiency OMIM:210210 MCCC2 64087 HP:0001993 Ketoacidosis OMIM:210210 MCCC2 64087 HP:0003202 Skeletal muscle atrophy OMIM:210210 MCCC2 64087 HP:0001051 Seborrheic dermatitis OMIM:210210 MCCC2 64087 HP:0001992 Organic aciduria ORPHANET:2301 CLMP 79827 HP:0011362 Abnormal hair quantity ORPHANET:2301 CLMP 79827 HP:0002566 Intestinal malrotation ORPHANET:2301 CLMP 79827 HP:0004322 Short stature ORPHANET:2301 CLMP 79827 HP:0100627 Displacement of the external urethral meatus ORPHANET:2301 CLMP 79827 HP:0100543 Cognitive impairment ORPHANET:2301 CLMP 79827 HP:0100578 Lipoatrophy ORPHANET:2301 FLNA 2316 HP:0011362 Abnormal hair quantity ORPHANET:2301 FLNA 2316 HP:0002566 Intestinal malrotation ORPHANET:2301 FLNA 2316 HP:0004322 Short stature ORPHANET:2301 FLNA 2316 HP:0100627 Displacement of the external urethral meatus ORPHANET:2301 FLNA 2316 HP:0100543 Cognitive impairment ORPHANET:2301 FLNA 2316 HP:0100578 Lipoatrophy OMIM:615616 CTNNA3 29119 HP:0011710 Bundle branch block OMIM:615616 CTNNA3 29119 HP:0004756 Ventricular tachycardia OMIM:615616 CTNNA3 29119 HP:0000006 Autosomal dominant inheritance OMIM:615990 MKS1 54903 HP:0010442 Polydactyly OMIM:615990 MKS1 54903 HP:0001263 Global developmental delay OMIM:615990 MKS1 54903 HP:0001249 Intellectual disability OMIM:615990 MKS1 54903 HP:0001513 Obesity OMIM:615990 MKS1 54903 HP:0000510 Retinitis pigmentosa OMIM:273395 WNT3 7473 HP:0001746 Asplenia OMIM:273395 WNT3 7473 HP:0000007 Autosomal recessive inheritance OMIM:273395 WNT3 7473 HP:0006709 Aplasia/Hypoplasia of the nipples OMIM:273395 WNT3 7473 HP:0000347 Micrognathia OMIM:273395 WNT3 7473 HP:0000612 Iris coloboma OMIM:273395 WNT3 7473 HP:0000568 Microphthalmos OMIM:273395 WNT3 7473 HP:0003057 Tetraamelia OMIM:273395 WNT3 7473 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:273395 WNT3 7473 HP:0000175 Cleft palate OMIM:273395 WNT3 7473 HP:0000028 Cryptorchidism OMIM:273395 WNT3 7473 HP:0000775 Abnormality of the diaphragm OMIM:273395 WNT3 7473 HP:0009932 Single naris OMIM:273395 WNT3 7473 HP:0002089 Pulmonary hypoplasia OMIM:273395 WNT3 7473 HP:0004408 Abnormality of the sense of smell OMIM:273395 WNT3 7473 HP:0000518 Cataract OMIM:273395 WNT3 7473 HP:0000453 Choanal atresia OMIM:273395 WNT3 7473 HP:0000356 Abnormality of the outer ear OMIM:273395 WNT3 7473 HP:0000042 Absent external genitalia OMIM:273395 WNT3 7473 HP:0000148 Vaginal atresia OMIM:273395 WNT3 7473 HP:0001195 Single umbilical artery OMIM:273395 WNT3 7473 HP:0001561 Polyhydramnios OMIM:273395 WNT3 7473 HP:0000238 Hydrocephalus OMIM:273395 WNT3 7473 HP:0011743 Adrenal gland agenesis OMIM:273395 WNT3 7473 HP:0008697 Hypoplasia of the fallopian tube OMIM:273395 WNT3 7473 HP:0009827 Amelia OMIM:273395 WNT3 7473 HP:0008839 Hypoplastic pelvis OMIM:273395 WNT3 7473 HP:0100569 Abnormal vertebral ossification OMIM:273395 WNT3 7473 HP:0002777 Tracheal stenosis OMIM:273395 WNT3 7473 HP:0000160 Narrow mouth OMIM:273395 WNT3 7473 HP:0000003 Multicystic kidney dysplasia OMIM:273395 WNT3 7473 HP:0000482 Microcornea OMIM:273395 WNT3 7473 HP:0002023 Anal atresia OMIM:273395 WNT3 7473 HP:0005316 Peripheral pulmonary vessel aplasia OMIM:273395 WNT3 7473 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:273395 WNT3 7473 HP:0000369 Low-set ears OMIM:273395 WNT3 7473 HP:0001425 Heterogeneous OMIM:273395 WNT3 7473 HP:0000772 Abnormality of the ribs OMIM:273395 WNT3 7473 HP:0009924 Aplasia/Hypoplasia involving the nose OMIM:273395 WNT3 7473 HP:0000104 Renal agenesis OMIM:273395 WNT3 7473 HP:0001600 Abnormality of the larynx OMIM:273395 WNT3 7473 HP:0002101 Abnormal lung lobation OMIM:273395 WNT3 7473 HP:0000204 Cleft upper lip OMIM:273395 WNT3 7473 HP:0100589 Urogenital fistula OMIM:273395 WNT3 7473 HP:0001543 Gastroschisis OMIM:273395 WNT3 7473 HP:0000068 Urethral atresia OMIM:273395 WNT3 7473 HP:0000202 Oral cleft OMIM:273395 WNT3 7473 HP:0100842 Septo-optic dysplasia OMIM:273395 WNT3 7473 HP:0000648 Optic atrophy OMIM:613647 AP5Z1 9907 HP:0007340 Lower limb muscle weakness OMIM:613647 AP5Z1 9907 HP:0003676 Progressive disorder OMIM:613647 AP5Z1 9907 HP:0001258 Spastic paraplegia OMIM:613647 AP5Z1 9907 HP:0000020 Urinary incontinence OMIM:613647 AP5Z1 9907 HP:0002064 Spastic gait OMIM:613647 AP5Z1 9907 HP:0000007 Autosomal recessive inheritance OMIM:614402 VAX1 11023 HP:0012687 Agenesis of pineal gland OMIM:614402 VAX1 11023 HP:0001274 Agenesis of corpus callosum OMIM:614402 VAX1 11023 HP:0001263 Global developmental delay OMIM:614402 VAX1 11023 HP:0000204 Cleft upper lip OMIM:614402 VAX1 11023 HP:0000568 Microphthalmos OMIM:614402 VAX1 11023 HP:0000175 Cleft palate OMIM:614402 VAX1 11023 HP:0000007 Autosomal recessive inheritance OMIM:275120 TRH 7200 HP:0008237 Hypothalamic hypothyroidism OMIM:275120 TRH 7200 HP:0001609 Hoarse voice OMIM:275120 TRH 7200 HP:0004322 Short stature OMIM:275120 TRH 7200 HP:0001249 Intellectual disability OMIM:275120 TRH 7200 HP:0002019 Constipation OMIM:275120 TRH 7200 HP:0001324 Muscle weakness OMIM:275120 TRH 7200 HP:0000958 Dry skin OMIM:275120 TRH 7200 HP:0002750 Delayed skeletal maturation OMIM:275120 TRH 7200 HP:0000007 Autosomal recessive inheritance OMIM:614800 NBAS 51594 HP:0000520 Proptosis OMIM:614800 NBAS 51594 HP:0000316 Hypertelorism OMIM:614800 NBAS 51594 HP:0000286 Epicanthus OMIM:614800 NBAS 51594 HP:0000954 Single transverse palmar crease OMIM:614800 NBAS 51594 HP:0000973 Cutis laxa OMIM:614800 NBAS 51594 HP:0008897 Postnatal growth retardation OMIM:614800 NBAS 51594 HP:0002750 Delayed skeletal maturation OMIM:614800 NBAS 51594 HP:0000233 Thin vermilion border OMIM:614800 NBAS 51594 HP:0000324 Facial asymmetry OMIM:614800 NBAS 51594 HP:0002213 Fine hair OMIM:614800 NBAS 51594 HP:0001156 Brachydactyly syndrome OMIM:614800 NBAS 51594 HP:0001852 Sandal gap OMIM:614800 NBAS 51594 HP:0000007 Autosomal recessive inheritance OMIM:614800 NBAS 51594 HP:0200068 Nonprogressive visual loss OMIM:614800 NBAS 51594 HP:0000574 Thick eyebrow OMIM:614800 NBAS 51594 HP:0000648 Optic atrophy OMIM:614800 NBAS 51594 HP:0000470 Short neck OMIM:614800 NBAS 51594 HP:0000540 Hypermetropia OMIM:614800 NBAS 51594 HP:0004322 Short stature OMIM:614800 NBAS 51594 HP:0000486 Strabismus OMIM:614800 NBAS 51594 HP:0001252 Muscular hypotonia OMIM:614800 NBAS 51594 HP:0002057 Prominent glabella OMIM:614800 NBAS 51594 HP:0000276 Long face OMIM:614800 NBAS 51594 HP:0000248 Brachycephaly OMIM:614800 NBAS 51594 HP:0000545 Myopia OMIM:614800 NBAS 51594 HP:0000341 Narrow forehead OMIM:614800 NBAS 51594 HP:0000343 Long philtrum OMIM:614800 NBAS 51594 HP:0002983 Micromelia OMIM:614800 NBAS 51594 HP:0001159 Syndactyly OMIM:604841 COL11A1 1301 HP:0000175 Cleft palate OMIM:604841 COL11A1 1301 HP:0000407 Sensorineural hearing impairment OMIM:604841 COL11A1 1301 HP:0000488 Retinopathy OMIM:604841 COL11A1 1301 HP:0000006 Autosomal dominant inheritance OMIM:604841 COL11A1 1301 HP:0000201 Pierre-Robin sequence OMIM:604841 COL11A1 1301 HP:0000463 Anteverted nares OMIM:604841 COL11A1 1301 HP:0000518 Cataract OMIM:604841 COL11A1 1301 HP:0000501 Glaucoma OMIM:604841 COL11A1 1301 HP:0004327 Abnormality of the vitreous humor OMIM:604841 COL11A1 1301 HP:0000541 Retinal detachment OMIM:604841 COL11A1 1301 HP:0001382 Joint hypermobility OMIM:604841 COL11A1 1301 HP:0000545 Myopia OMIM:604841 COL11A1 1301 HP:0000347 Micrognathia OMIM:604841 COL11A1 1301 HP:0100807 Long fingers OMIM:604841 COL11A1 1301 HP:0005280 Depressed nasal bridge OMIM:604841 COL11A1 1301 HP:0001166 Arachnodactyly OMIM:604841 COL11A1 1301 HP:0007759 Opacification of the corneal stroma OMIM:604841 COL11A1 1301 HP:0002655 Spondyloepiphyseal dysplasia OMIM:604841 COL11A1 1301 HP:0003040 Arthropathy OMIM:604841 COL11A1 1301 HP:0000193 Bifid uvula OMIM:604841 COL11A1 1301 HP:0000272 Malar flattening OMIM:108300 COL2A1 1280 HP:0003040 Arthropathy OMIM:108300 COL2A1 1280 HP:0006361 Irregular femoral epiphysis OMIM:108300 COL2A1 1280 HP:0001634 Mitral valve prolapse OMIM:108300 COL2A1 1280 HP:0000175 Cleft palate OMIM:108300 COL2A1 1280 HP:0000407 Sensorineural hearing impairment OMIM:108300 COL2A1 1280 HP:0002808 Kyphosis OMIM:108300 COL2A1 1280 HP:0002655 Spondyloepiphyseal dysplasia OMIM:108300 COL2A1 1280 HP:0000926 Platyspondyly OMIM:108300 COL2A1 1280 HP:0000405 Conductive hearing impairment OMIM:108300 COL2A1 1280 HP:0005280 Depressed nasal bridge OMIM:108300 COL2A1 1280 HP:0000006 Autosomal dominant inheritance OMIM:108300 COL2A1 1280 HP:0000272 Malar flattening OMIM:108300 COL2A1 1280 HP:0000463 Anteverted nares OMIM:108300 COL2A1 1280 HP:0000618 Blindness OMIM:108300 COL2A1 1280 HP:0002650 Scoliosis OMIM:108300 COL2A1 1280 HP:0000518 Cataract OMIM:108300 COL2A1 1280 HP:0000767 Pectus excavatum OMIM:108300 COL2A1 1280 HP:0000545 Myopia OMIM:108300 COL2A1 1280 HP:0000501 Glaucoma OMIM:108300 COL2A1 1280 HP:0001519 Disproportionate tall stature OMIM:108300 COL2A1 1280 HP:0000541 Retinal detachment OMIM:108300 COL2A1 1280 HP:0001166 Arachnodactyly OMIM:108300 COL2A1 1280 HP:0000201 Pierre-Robin sequence OMIM:108300 COL2A1 1280 HP:0004568 Beaking of vertebral bodies OMIM:275355 TNFRSF10B 8795 HP:0000007 Autosomal recessive inheritance OMIM:275355 TNFRSF10B 8795 HP:0002860 Squamous cell carcinoma OMIM:275355 ING1 3621 HP:0000007 Autosomal recessive inheritance OMIM:275355 ING1 3621 HP:0002860 Squamous cell carcinoma OMIM:275355 PTEN 5728 HP:0000007 Autosomal recessive inheritance OMIM:275355 PTEN 5728 HP:0002860 Squamous cell carcinoma OMIM:163800 HCN4 10021 HP:0000006 Autosomal dominant inheritance OMIM:163800 HCN4 10021 HP:0005110 Atrial fibrillation OMIM:163800 HCN4 10021 HP:0011704 Sick sinus syndrome OMIM:163800 HCN4 10021 HP:0003577 Congenital onset OMIM:163800 HCN4 10021 HP:0001688 Sinus bradycardia OMIM:107480 SALL1 6299 HP:0008551 Microtia OMIM:107480 SALL1 6299 HP:0001537 Umbilical hernia OMIM:107480 SALL1 6299 HP:0000324 Facial asymmetry OMIM:107480 SALL1 6299 HP:0001636 Tetralogy of Fallot OMIM:107480 SALL1 6299 HP:0000089 Renal hypoplasia OMIM:107480 SALL1 6299 HP:0000486 Strabismus OMIM:107480 SALL1 6299 HP:0000821 Hypothyroidism OMIM:107480 SALL1 6299 HP:0000083 Renal insufficiency OMIM:107480 SALL1 6299 HP:0009944 Partial duplication of thumb phalanx OMIM:107480 SALL1 6299 HP:0000772 Abnormality of the ribs OMIM:107480 SALL1 6299 HP:0010709 2-4 finger syndactyly OMIM:107480 SALL1 6299 HP:0004691 2-3 toe syndactyly OMIM:107480 SALL1 6299 HP:0001839 Split foot OMIM:107480 SALL1 6299 HP:0100015 Stahl ear OMIM:107480 SALL1 6299 HP:0001249 Intellectual disability OMIM:107480 SALL1 6299 HP:0000076 Vesicoureteral reflux OMIM:107480 SALL1 6299 HP:0001841 Preaxial foot polydactyly OMIM:107480 SALL1 6299 HP:0002607 Bowel incontinence OMIM:107480 SALL1 6299 HP:0000028 Cryptorchidism OMIM:107480 SALL1 6299 HP:0006179 Pseudoepiphyses of second metacarpal OMIM:107480 SALL1 6299 HP:0000252 Microcephaly OMIM:107480 SALL1 6299 HP:0001770 Toe syndactyly OMIM:107480 SALL1 6299 HP:0001629 Ventricular septal defect OMIM:107480 SALL1 6299 HP:0004397 Ectopic anus OMIM:107480 SALL1 6299 HP:0000142 Abnormality of the vagina OMIM:107480 SALL1 6299 HP:0100589 Urogenital fistula OMIM:107480 SALL1 6299 HP:0100627 Displacement of the external urethral meatus OMIM:107480 SALL1 6299 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:107480 SALL1 6299 HP:0008572 External ear malformation OMIM:107480 SALL1 6299 HP:0001836 Camptodactyly of toe OMIM:107480 SALL1 6299 HP:0000048 Bifid scrotum OMIM:107480 SALL1 6299 HP:0010481 Urethral valve OMIM:107480 SALL1 6299 HP:0002023 Anal atresia OMIM:107480 SALL1 6299 HP:0002019 Constipation OMIM:107480 SALL1 6299 HP:0000567 Chorioretinal coloboma OMIM:107480 SALL1 6299 HP:0001199 Triphalangeal thumb OMIM:107480 SALL1 6299 HP:0001177 Preaxial hand polydactyly OMIM:107480 SALL1 6299 HP:0001641 Abnormality of the pulmonary valve OMIM:107480 SALL1 6299 HP:0000384 Preauricular skin tag OMIM:107480 SALL1 6299 HP:0004322 Short stature OMIM:107480 SALL1 6299 HP:0001440 Metatarsal synostosis OMIM:107480 SALL1 6299 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:107480 SALL1 6299 HP:0011304 Broad thumb OMIM:107480 SALL1 6299 HP:0100543 Cognitive impairment OMIM:107480 SALL1 6299 HP:0000136 Bifid uterus OMIM:107480 SALL1 6299 HP:0004792 Rectoperineal fistula OMIM:107480 SALL1 6299 HP:0002247 Duodenal atresia OMIM:107480 SALL1 6299 HP:0009465 Ulnar deviation of finger OMIM:107480 SALL1 6299 HP:0010743 Short metatarsal OMIM:107480 SALL1 6299 HP:0000581 Blepharophimosis OMIM:107480 SALL1 6299 HP:0008736 Hypoplasia of penis OMIM:107480 SALL1 6299 HP:0001140 Epibulbar dermoid OMIM:107480 SALL1 6299 HP:0006824 Cranial nerve paralysis OMIM:107480 SALL1 6299 HP:0004453 Overfolding of the superior helices OMIM:107480 SALL1 6299 HP:0001864 Clinodactyly of the 5th toe OMIM:107480 SALL1 6299 HP:0002025 Anal stenosis OMIM:107480 SALL1 6299 HP:0000518 Cataract OMIM:107480 SALL1 6299 HP:0000154 Wide mouth OMIM:107480 SALL1 6299 HP:0004467 Preauricular pit OMIM:107480 SALL1 6299 HP:0009921 Duane anomaly OMIM:107480 SALL1 6299 HP:0001631 Defect in the atrial septum OMIM:107480 SALL1 6299 HP:0010331 Aplasia/Hypoplasia of the 3rd toe OMIM:107480 SALL1 6299 HP:0001763 Pes planus OMIM:107480 SALL1 6299 HP:0006097 3-4 finger syndactyly OMIM:107480 SALL1 6299 HP:0000407 Sensorineural hearing impairment OMIM:107480 SALL1 6299 HP:0001643 Patent ductus arteriosus OMIM:107480 SALL1 6299 HP:0002020 Gastroesophageal reflux OMIM:107480 SALL1 6299 HP:0000143 Rectovaginal fistula OMIM:107480 SALL1 6299 HP:0100542 Abnormal localization of kidney OMIM:107480 SALL1 6299 HP:0009912 Abnormality of the tragus OMIM:107480 SALL1 6299 HP:0000110 Renal dysplasia OMIM:107480 SALL1 6299 HP:0000365 Hearing impairment OMIM:107480 SALL1 6299 HP:0000612 Iris coloboma OMIM:107480 SALL1 6299 HP:0000047 Hypospadias OMIM:107480 SALL1 6299 HP:0000003 Multicystic kidney dysplasia OMIM:107480 SALL1 6299 HP:0000505 Visual impairment OMIM:107480 SALL1 6299 HP:0009779 3-4 toe syndactyly OMIM:107480 SALL1 6299 HP:0004209 Clinodactyly of the 5th finger OMIM:107480 SALL1 6299 HP:0002308 Arnold-Chiari malformation OMIM:107480 SALL1 6299 HP:0100559 Lower limb asymmetry OMIM:107480 SALL1 6299 HP:0000006 Autosomal dominant inheritance OMIM:107480 SALL1 6299 HP:0000400 Macrotia OMIM:615962 NR3C1 2908 HP:0012378 Fatigue OMIM:615962 NR3C1 2908 HP:0001943 Hypoglycemia OMIM:615962 NR3C1 2908 HP:0200114 Metabolic alkalosis OMIM:615962 NR3C1 2908 HP:0000822 Hypertension OMIM:615962 NR3C1 2908 HP:0000789 Infertility OMIM:615962 NR3C1 2908 HP:0000739 Anxiety OMIM:615962 NR3C1 2908 HP:0000858 Menstrual irregularities OMIM:614753 NFIX 4784 HP:0005616 Accelerated skeletal maturation OMIM:614753 NFIX 4784 HP:0000739 Anxiety OMIM:614753 NFIX 4784 HP:0002650 Scoliosis OMIM:614753 NFIX 4784 HP:0000276 Long face OMIM:614753 NFIX 4784 HP:0000006 Autosomal dominant inheritance OMIM:614753 NFIX 4784 HP:0001548 Overgrowth OMIM:614753 NFIX 4784 HP:0001249 Intellectual disability OMIM:614753 NFIX 4784 HP:0000275 Narrow face OMIM:614491 WNK4 65266 HP:0000822 Hypertension OMIM:614491 WNK4 65266 HP:0008242 Pseudohypoaldosteronism OMIM:614491 WNK4 65266 HP:0004918 Hyperchloremic metabolic acidosis OMIM:614491 WNK4 65266 HP:0011423 Hyperchloremia OMIM:614491 WNK4 65266 HP:0000006 Autosomal dominant inheritance OMIM:614491 WNK4 65266 HP:0002153 Hyperkalemia OMIM:601869 GIPC3 126326 HP:0011463 Childhood onset OMIM:601869 GIPC3 126326 HP:0000007 Autosomal recessive inheritance OMIM:601869 GIPC3 126326 HP:0000365 Hearing impairment OMIM:303900 OPN1LW 5956 HP:0001419 X-linked recessive inheritance OMIM:303900 OPN1LW 5956 HP:0200018 Protanomaly OMIM:613158 POMT2 29954 HP:0003593 Infantile onset OMIM:613158 POMT2 29954 HP:0003828 Variable expressivity OMIM:613158 POMT2 29954 HP:0003560 Muscular dystrophy OMIM:613158 POMT2 29954 HP:0003701 Proximal muscle weakness OMIM:613158 POMT2 29954 HP:0001270 Motor delay OMIM:613158 POMT2 29954 HP:0000007 Autosomal recessive inheritance OMIM:613158 POMT2 29954 HP:0003712 Skeletal muscle hypertrophy OMIM:613158 POMT2 29954 HP:0011712 Right bundle branch block OMIM:613158 POMT2 29954 HP:0003236 Elevated serum creatine phosphokinase OMIM:305670 GRPR 2925 HP:0001417 X-linked inheritance OMIM:613443 MEF2C 4208 HP:0002540 Inability to walk OMIM:613443 MEF2C 4208 HP:0100543 Cognitive impairment OMIM:613443 MEF2C 4208 HP:0000648 Optic atrophy OMIM:613443 MEF2C 4208 HP:0000733 Stereotypic behavior OMIM:613443 MEF2C 4208 HP:0002518 Abnormality of the periventricular white matter OMIM:613443 MEF2C 4208 HP:0000463 Anteverted nares OMIM:613443 MEF2C 4208 HP:0005280 Depressed nasal bridge OMIM:613443 MEF2C 4208 HP:0000316 Hypertelorism OMIM:613443 MEF2C 4208 HP:0010864 Intellectual disability, severe OMIM:613443 MEF2C 4208 HP:0001252 Muscular hypotonia OMIM:613443 MEF2C 4208 HP:0003196 Short nose OMIM:613443 MEF2C 4208 HP:0000331 Short chin OMIM:613443 MEF2C 4208 HP:0000369 Low-set ears OMIM:613443 MEF2C 4208 HP:0000717 Autism OMIM:613443 MEF2C 4208 HP:0000486 Strabismus OMIM:613443 MEF2C 4208 HP:0000817 Poor eye contact OMIM:613443 MEF2C 4208 HP:0002120 Cerebral cortical atrophy OMIM:613443 MEF2C 4208 HP:0000582 Upslanted palpebral fissure OMIM:613443 MEF2C 4208 HP:0002119 Ventriculomegaly OMIM:613443 MEF2C 4208 HP:0000574 Thick eyebrow OMIM:613443 MEF2C 4208 HP:0001270 Motor delay OMIM:613443 MEF2C 4208 HP:0001770 Toe syndactyly OMIM:613443 MEF2C 4208 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:613443 MEF2C 4208 HP:0000337 Broad forehead OMIM:613443 MEF2C 4208 HP:0200134 Epileptic encephalopathy OMIM:613443 MEF2C 4208 HP:0002167 Neurological speech impairment OMIM:613443 MEF2C 4208 HP:0002714 Downturned corners of mouth OMIM:613443 MEF2C 4208 HP:0001250 Seizures OMIM:613443 MEF2C 4208 HP:0000194 Open mouth OMIM:613443 MEF2C 4208 HP:0000322 Short philtrum OMIM:613443 MEF2C 4208 HP:0000348 High forehead OMIM:613443 MEF2C 4208 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:613443 MEF2C 4208 HP:0000490 Deeply set eye OMIM:614706 GRN 2896 HP:0002353 EEG abnormality OMIM:614706 GRN 2896 HP:0001268 Mental deterioration OMIM:614706 GRN 2896 HP:0002123 Generalized myoclonic seizures OMIM:614706 GRN 2896 HP:0000007 Autosomal recessive inheritance OMIM:614706 GRN 2896 HP:0001251 Ataxia OMIM:614706 GRN 2896 HP:0000648 Optic atrophy OMIM:614706 GRN 2896 HP:0000556 Retinal dystrophy OMIM:614706 GRN 2896 HP:0003678 Rapidly progressive OMIM:614706 GRN 2896 HP:0000505 Visual impairment OMIM:614706 GRN 2896 HP:0001272 Cerebellar atrophy OMIM:141500 CACNA1A 773 HP:0001272 Cerebellar atrophy OMIM:141500 CACNA1A 773 HP:0001250 Seizures OMIM:141500 CACNA1A 773 HP:0000713 Agitation OMIM:141500 CACNA1A 773 HP:0001269 Hemiparesis OMIM:141500 CACNA1A 773 HP:0002442 Dyscalculia OMIM:141500 CACNA1A 773 HP:0001945 Fever OMIM:141500 CACNA1A 773 HP:0000639 Nystagmus OMIM:141500 CACNA1A 773 HP:0008765 Auditory hallucinations OMIM:141500 CACNA1A 773 HP:0001125 Hemianopic blurring of vision OMIM:141500 CACNA1A 773 HP:0000006 Autosomal dominant inheritance OMIM:141500 CACNA1A 773 HP:0001337 Tremor OMIM:141500 CACNA1A 773 HP:0000709 Psychosis OMIM:141500 CACNA1A 773 HP:0002077 Migraine with aura OMIM:141500 CACNA1A 773 HP:0002357 Dysphasia OMIM:141500 CACNA1A 773 HP:0001251 Ataxia OMIM:141500 CACNA1A 773 HP:0001289 Confusion OMIM:141500 CACNA1A 773 HP:0002301 Hemiplegia OMIM:141500 CACNA1A 773 HP:0001259 Coma OMIM:141500 CACNA1A 773 HP:0000739 Anxiety OMIM:141500 CACNA1A 773 HP:0001425 Heterogeneous OMIM:141500 CACNA1A 773 HP:0002367 Visual hallucinations OMIM:141500 CACNA1A 773 HP:0002329 Drowsiness OMIM:162900 PIK3CA 5290 HP:0000006 Autosomal dominant inheritance OMIM:162900 PIK3CA 5290 HP:0000995 Melanocytic nevus OMIM:162900 PIK3CA 5290 HP:0001054 Numerous nevi OMIM:162900 FGFR3 2261 HP:0000006 Autosomal dominant inheritance OMIM:162900 FGFR3 2261 HP:0000995 Melanocytic nevus OMIM:162900 FGFR3 2261 HP:0001054 Numerous nevi OMIM:162900 NRAS 4893 HP:0000006 Autosomal dominant inheritance OMIM:162900 NRAS 4893 HP:0000995 Melanocytic nevus OMIM:162900 NRAS 4893 HP:0001054 Numerous nevi OMIM:308230 CD40LG 959 HP:0010280 Stomatitis OMIM:308230 CD40LG 959 HP:0002849 Absence of lymph node germinal center OMIM:308230 CD40LG 959 HP:0002959 Impaired Ig class switch recombination OMIM:308230 CD40LG 959 HP:0001875 Neutropenia OMIM:308230 CD40LG 959 HP:0002014 Diarrhea OMIM:308230 CD40LG 959 HP:0005419 Decreased T cell activation OMIM:308230 CD40LG 959 HP:0002718 Recurrent bacterial infections OMIM:308230 CD40LG 959 HP:0012115 Hepatitis OMIM:308230 CD40LG 959 HP:0001873 Thrombocytopenia OMIM:308230 CD40LG 959 HP:0005479 IgE deficiency OMIM:308230 CD40LG 959 HP:0002847 Impaired memory B-cell generation OMIM:308230 CD40LG 959 HP:0004315 IgG deficiency OMIM:308230 CD40LG 959 HP:0001419 X-linked recessive inheritance OMIM:308230 CD40LG 959 HP:0002961 Dysgammaglobulinemia OMIM:308230 CD40LG 959 HP:0002721 Immunodeficiency OMIM:308230 CD40LG 959 HP:0002720 IgA deficiency OMIM:308230 CD40LG 959 HP:0000230 Gingivitis OMIM:308230 CD40LG 959 HP:0001878 Hemolytic anemia OMIM:308230 CD40LG 959 HP:0003496 Increased IgM level OMIM:308230 CD40LG 959 HP:0001744 Splenomegaly OMIM:308230 CD40LG 959 HP:0002240 Hepatomegaly OMIM:615916 RAF1 5894 HP:0004308 Ventricular arrhythmia OMIM:615916 RAF1 5894 HP:0001644 Dilated cardiomyopathy OMIM:616341 SIK1 150094 HP:0001344 Absent speech OMIM:616341 SIK1 150094 HP:0002521 Hypsarrhythmia OMIM:616341 SIK1 150094 HP:0002123 Generalized myoclonic seizures OMIM:616341 SIK1 150094 HP:0002069 Generalized tonic-clonic seizures OMIM:616341 SIK1 150094 HP:0002880 Respiratory difficulties OMIM:616341 SIK1 150094 HP:0001298 Encephalopathy OMIM:616341 SIK1 150094 HP:0011968 Feeding difficulties OMIM:616341 SIK1 150094 HP:0001263 Global developmental delay OMIM:613795 SMAD3 4088 HP:0001634 Mitral valve prolapse OMIM:613795 SMAD3 4088 HP:0000023 Inguinal hernia OMIM:613795 SMAD3 4088 HP:0000175 Cleft palate OMIM:613795 SMAD3 4088 HP:0012385 Camptodactyly OMIM:613795 SMAD3 4088 HP:0008843 Hip osteoarthritis OMIM:613795 SMAD3 4088 HP:0005110 Atrial fibrillation OMIM:613795 SMAD3 4088 HP:0000689 Dental malocclusion OMIM:613795 SMAD3 4088 HP:0000939 Osteoporosis OMIM:613795 SMAD3 4088 HP:0000316 Hypertelorism OMIM:613795 SMAD3 4088 HP:0000006 Autosomal dominant inheritance OMIM:613795 SMAD3 4088 HP:0002647 Aortic dissection OMIM:613795 SMAD3 4088 HP:0001763 Pes planus OMIM:613795 SMAD3 4088 HP:0001712 Left ventricular hypertrophy OMIM:613795 SMAD3 4088 HP:0003302 Spondylolisthesis OMIM:613795 SMAD3 4088 HP:0010886 Osteochondrosis dissecans OMIM:613795 SMAD3 4088 HP:0001653 Mitral regurgitation OMIM:613795 SMAD3 4088 HP:0001166 Arachnodactyly OMIM:613795 SMAD3 4088 HP:0000766 Abnormality of the sternum OMIM:613795 SMAD3 4088 HP:0004942 Aortic aneurysm OMIM:613795 SMAD3 4088 HP:0001537 Umbilical hernia OMIM:613795 SMAD3 4088 HP:0001065 Striae distensae OMIM:613795 SMAD3 4088 HP:0001643 Patent ductus arteriosus OMIM:613795 SMAD3 4088 HP:0100775 Dural ectasia OMIM:613795 SMAD3 4088 HP:0005086 Knee osteoarthritis OMIM:613795 SMAD3 4088 HP:0001659 Aortic regurgitation OMIM:613795 SMAD3 4088 HP:0003179 Protrusio acetabuli OMIM:613795 SMAD3 4088 HP:0000978 Bruising susceptibility OMIM:613795 SMAD3 4088 HP:0008419 Intervertebral disc degeneration OMIM:613795 SMAD3 4088 HP:0000139 Uterine prolapse OMIM:613795 SMAD3 4088 HP:0000218 High palate OMIM:613795 SMAD3 4088 HP:0002650 Scoliosis OMIM:613795 SMAD3 4088 HP:0001642 Pulmonic stenosis OMIM:613795 SMAD3 4088 HP:0001388 Joint laxity OMIM:613795 SMAD3 4088 HP:0005116 Arterial tortuosity OMIM:610738 HAX1 10456 HP:0001263 Global developmental delay OMIM:610738 HAX1 10456 HP:0001250 Seizures OMIM:610738 HAX1 10456 HP:0002718 Recurrent bacterial infections OMIM:610738 HAX1 10456 HP:0000007 Autosomal recessive inheritance OMIM:610738 HAX1 10456 HP:0002863 Myelodysplasia OMIM:610738 HAX1 10456 HP:0001909 Leukemia OMIM:610738 HAX1 10456 HP:0003593 Infantile onset OMIM:610738 HAX1 10456 HP:0001875 Neutropenia ORPHANET:568 NAA10 8260 HP:0001177 Preaxial hand polydactyly ORPHANET:568 NAA10 8260 HP:0100716 Self-injurious behavior ORPHANET:568 NAA10 8260 HP:0006482 Abnormality of dental morphology ORPHANET:568 NAA10 8260 HP:0000028 Cryptorchidism ORPHANET:568 NAA10 8260 HP:0004322 Short stature ORPHANET:568 NAA10 8260 HP:0000639 Nystagmus ORPHANET:568 NAA10 8260 HP:0002564 Malformation of the heart and great vessels ORPHANET:568 NAA10 8260 HP:0008678 Renal hypoplasia/aplasia ORPHANET:568 NAA10 8260 HP:0100543 Cognitive impairment ORPHANET:568 NAA10 8260 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:568 NAA10 8260 HP:0000365 Hearing impairment ORPHANET:568 NAA10 8260 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:568 NAA10 8260 HP:0006101 Finger syndactyly ORPHANET:568 NAA10 8260 HP:0002167 Neurological speech impairment ORPHANET:568 NAA10 8260 HP:0000612 Iris coloboma ORPHANET:568 NAA10 8260 HP:0001250 Seizures ORPHANET:568 NAA10 8260 HP:0008050 Abnormality of the palpebral fissures ORPHANET:568 NAA10 8260 HP:0002808 Kyphosis ORPHANET:568 NAA10 8260 HP:0000202 Oral cleft ORPHANET:568 NAA10 8260 HP:0002650 Scoliosis ORPHANET:568 NAA10 8260 HP:0000518 Cataract ORPHANET:568 NAA10 8260 HP:0000684 Delayed eruption of teeth ORPHANET:568 NAA10 8260 HP:0000252 Microcephaly ORPHANET:568 NAA10 8260 HP:0000889 Abnormality of the clavicle ORPHANET:568 NAA10 8260 HP:0000501 Glaucoma ORPHANET:568 NAA10 8260 HP:0000505 Visual impairment ORPHANET:568 NAA10 8260 HP:0000567 Chorioretinal coloboma ORPHANET:568 NAA10 8260 HP:0000465 Webbed neck ORPHANET:568 NAA10 8260 HP:0008572 External ear malformation ORPHANET:568 NAA10 8260 HP:0003043 Abnormality of the shoulder ORPHANET:568 NAA10 8260 HP:0000482 Microcornea ORPHANET:568 NAA10 8260 HP:0100627 Displacement of the external urethral meatus ORPHANET:568 NAA10 8260 HP:0100490 Camptodactyly of finger ORPHANET:568 NAA10 8260 HP:0004209 Clinodactyly of the 5th finger ORPHANET:568 NAA10 8260 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:568 NAA10 8260 HP:0003307 Hyperlordosis ORPHANET:568 NAA10 8260 HP:0000384 Preauricular skin tag ORPHANET:568 NAA10 8260 HP:0000588 Optic nerve coloboma ORPHANET:568 NAA10 8260 HP:0000069 Abnormality of the ureter ORPHANET:568 NAA10 8260 HP:0100818 Long thorax ORPHANET:568 BCOR 54880 HP:0001177 Preaxial hand polydactyly ORPHANET:568 BCOR 54880 HP:0100716 Self-injurious behavior ORPHANET:568 BCOR 54880 HP:0006482 Abnormality of dental morphology ORPHANET:568 BCOR 54880 HP:0000028 Cryptorchidism ORPHANET:568 BCOR 54880 HP:0004322 Short stature ORPHANET:568 BCOR 54880 HP:0000639 Nystagmus ORPHANET:568 BCOR 54880 HP:0002564 Malformation of the heart and great vessels ORPHANET:568 BCOR 54880 HP:0008678 Renal hypoplasia/aplasia ORPHANET:568 BCOR 54880 HP:0100543 Cognitive impairment ORPHANET:568 BCOR 54880 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:568 BCOR 54880 HP:0000365 Hearing impairment ORPHANET:568 BCOR 54880 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:568 BCOR 54880 HP:0006101 Finger syndactyly ORPHANET:568 BCOR 54880 HP:0002167 Neurological speech impairment ORPHANET:568 BCOR 54880 HP:0000612 Iris coloboma ORPHANET:568 BCOR 54880 HP:0001250 Seizures ORPHANET:568 BCOR 54880 HP:0008050 Abnormality of the palpebral fissures ORPHANET:568 BCOR 54880 HP:0002808 Kyphosis ORPHANET:568 BCOR 54880 HP:0000202 Oral cleft ORPHANET:568 BCOR 54880 HP:0002650 Scoliosis ORPHANET:568 BCOR 54880 HP:0000518 Cataract ORPHANET:568 BCOR 54880 HP:0000684 Delayed eruption of teeth ORPHANET:568 BCOR 54880 HP:0000252 Microcephaly ORPHANET:568 BCOR 54880 HP:0000889 Abnormality of the clavicle ORPHANET:568 BCOR 54880 HP:0000501 Glaucoma ORPHANET:568 BCOR 54880 HP:0000505 Visual impairment ORPHANET:568 BCOR 54880 HP:0000567 Chorioretinal coloboma ORPHANET:568 BCOR 54880 HP:0000465 Webbed neck ORPHANET:568 BCOR 54880 HP:0008572 External ear malformation ORPHANET:568 BCOR 54880 HP:0003043 Abnormality of the shoulder ORPHANET:568 BCOR 54880 HP:0000482 Microcornea ORPHANET:568 BCOR 54880 HP:0100627 Displacement of the external urethral meatus ORPHANET:568 BCOR 54880 HP:0100490 Camptodactyly of finger ORPHANET:568 BCOR 54880 HP:0004209 Clinodactyly of the 5th finger ORPHANET:568 BCOR 54880 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:568 BCOR 54880 HP:0003307 Hyperlordosis ORPHANET:568 BCOR 54880 HP:0000384 Preauricular skin tag ORPHANET:568 BCOR 54880 HP:0000588 Optic nerve coloboma ORPHANET:568 BCOR 54880 HP:0000069 Abnormality of the ureter ORPHANET:568 BCOR 54880 HP:0100818 Long thorax OMIM:260000 GRHPR 9380 HP:0000083 Renal insufficiency OMIM:260000 GRHPR 9380 HP:0008672 Calcium oxalate nephrolithiasis OMIM:260000 GRHPR 9380 HP:0000121 Nephrocalcinosis OMIM:260000 GRHPR 9380 HP:0000790 Hematuria OMIM:260000 GRHPR 9380 HP:0003159 Hyperoxaluria OMIM:260000 GRHPR 9380 HP:0000007 Autosomal recessive inheritance OMIM:260000 GRHPR 9380 HP:0003355 Aminoaciduria OMIM:613376 HSPB3 8988 HP:0009830 Peripheral neuropathy OMIM:613376 HSPB3 8988 HP:0002522 Areflexia of lower limbs OMIM:613376 HSPB3 8988 HP:0008959 Distal upper limb muscle weakness OMIM:613376 HSPB3 8988 HP:0003202 Skeletal muscle atrophy OMIM:613376 HSPB3 8988 HP:0002355 Difficulty walking OMIM:613376 HSPB3 8988 HP:0000006 Autosomal dominant inheritance OMIM:613376 HSPB3 8988 HP:0003677 Slow progression OMIM:613376 HSPB3 8988 HP:0003376 Steppage gait OMIM:613376 HSPB3 8988 HP:0002600 Hyporeflexia of lower limbs OMIM:613376 HSPB3 8988 HP:0009053 Distal lower limb muscle weakness OMIM:613376 HSPB3 8988 HP:0003445 EMG: neuropathic changes OMIM:615991 CEP290 80184 HP:0001263 Global developmental delay OMIM:615991 CEP290 80184 HP:0001249 Intellectual disability OMIM:615991 CEP290 80184 HP:0000510 Retinitis pigmentosa OMIM:615991 CEP290 80184 HP:0001513 Obesity OMIM:303100 CHM 1121 HP:0000505 Visual impairment OMIM:303100 CHM 1121 HP:0001133 Constricted visual fields OMIM:303100 CHM 1121 HP:0001000 Abnormality of skin pigmentation OMIM:303100 CHM 1121 HP:0000662 Night blindness OMIM:303100 CHM 1121 HP:0001139 Choroideremia OMIM:303100 CHM 1121 HP:0007945 Choroidal degeneration OMIM:303100 CHM 1121 HP:0000512 Abnormal electroretinogram OMIM:303100 CHM 1121 HP:0001150 Choroidal sclerosis OMIM:303100 CHM 1121 HP:0001423 X-linked dominant inheritance OMIM:303100 CHM 1121 HP:0000545 Myopia OMIM:303100 CHM 1121 HP:0007703 Abnormal retinal pigmentation OMIM:303100 CHM 1121 HP:0000529 Progressive visual loss OMIM:300299 WAS 7454 HP:0004313 Hypogammaglobulinemia OMIM:300299 WAS 7454 HP:0002718 Recurrent bacterial infections OMIM:300299 WAS 7454 HP:0001874 Abnormality of neutrophils OMIM:300299 WAS 7454 HP:0005549 Congenital neutropenia OMIM:300299 WAS 7454 HP:0001419 X-linked recessive inheritance OMIM:300299 WAS 7454 HP:0000951 Abnormality of the skin OMIM:616051 CENPE 1062 HP:0001511 Intrauterine growth retardation OMIM:616051 CENPE 1062 HP:0000311 Round face OMIM:616051 CENPE 1062 HP:0000252 Microcephaly OMIM:616051 CENPE 1062 HP:0001773 Short foot OMIM:616051 CENPE 1062 HP:0000448 Prominent nose OMIM:616051 CENPE 1062 HP:0000347 Micrognathia OMIM:616051 CENPE 1062 HP:0200055 Small hand OMIM:616051 CENPE 1062 HP:0000340 Sloping forehead OMIM:113970 MYC 4609 HP:0030080 Burkitt lymphoma OMIM:234200 PANK2 80025 HP:0001618 Dysphonia OMIM:234200 PANK2 80025 HP:0002167 Neurological speech impairment OMIM:234200 PANK2 80025 HP:0002310 Orofacial dyskinesia OMIM:234200 PANK2 80025 HP:0002015 Dysphagia OMIM:234200 PANK2 80025 HP:0002067 Bradykinesia OMIM:234200 PANK2 80025 HP:0000020 Urinary incontinence OMIM:234200 PANK2 80025 HP:0001250 Seizures OMIM:234200 PANK2 80025 HP:0000716 Depression OMIM:234200 PANK2 80025 HP:0000658 Eyelid apraxia OMIM:234200 PANK2 80025 HP:0007703 Abnormal retinal pigmentation OMIM:234200 PANK2 80025 HP:0003678 Rapidly progressive OMIM:234200 PANK2 80025 HP:0001260 Dysarthria OMIM:234200 PANK2 80025 HP:0002454 Eye of the tiger anomaly of globus pallidus OMIM:234200 PANK2 80025 HP:0000752 Hyperactivity OMIM:234200 PANK2 80025 HP:0001300 Parkinsonism OMIM:234200 PANK2 80025 HP:0001251 Ataxia OMIM:234200 PANK2 80025 HP:0008872 Feeding difficulties in infancy OMIM:234200 PANK2 80025 HP:0001760 Abnormality of the foot OMIM:234200 PANK2 80025 HP:0002072 Chorea OMIM:234200 PANK2 80025 HP:0002376 Developmental regression OMIM:234200 PANK2 80025 HP:0007313 Cerebral degeneration OMIM:234200 PANK2 80025 HP:0001288 Gait disturbance OMIM:234200 PANK2 80025 HP:0001367 Abnormal joint morphology OMIM:234200 PANK2 80025 HP:0001266 Choreoathetosis OMIM:234200 PANK2 80025 HP:0001337 Tremor OMIM:234200 PANK2 80025 HP:0001927 Acanthocytosis OMIM:234200 PANK2 80025 HP:0001257 Spasticity OMIM:234200 PANK2 80025 HP:0000580 Pigmentary retinopathy OMIM:234200 PANK2 80025 HP:0000546 Retinal degeneration OMIM:234200 PANK2 80025 HP:0000273 Facial grimacing OMIM:234200 PANK2 80025 HP:0001263 Global developmental delay OMIM:234200 PANK2 80025 HP:0002180 Neurodegeneration OMIM:234200 PANK2 80025 HP:0002304 Akinesia OMIM:234200 PANK2 80025 HP:0001347 Hyperreflexia OMIM:234200 PANK2 80025 HP:0002283 Global brain atrophy OMIM:234200 PANK2 80025 HP:0000007 Autosomal recessive inheritance OMIM:234200 PANK2 80025 HP:0003198 Myopathy OMIM:234200 PANK2 80025 HP:0000505 Visual impairment OMIM:234200 PANK2 80025 HP:0100034 Motor tics OMIM:234200 PANK2 80025 HP:0003199 Decreased muscle mass OMIM:234200 PANK2 80025 HP:0000643 Blepharospasm OMIM:234200 PANK2 80025 HP:0000648 Optic atrophy OMIM:234200 PANK2 80025 HP:0000726 Dementia OMIM:234200 PANK2 80025 HP:0001291 Abnormality of the cranial nerves OMIM:234200 PANK2 80025 HP:0001276 Hypertonia OMIM:234200 PANK2 80025 HP:0007256 Abnormal pyramidal signs OMIM:234200 PANK2 80025 HP:0000708 Behavioral abnormality OMIM:234200 PANK2 80025 HP:0001824 Weight loss OMIM:234200 PANK2 80025 HP:0002019 Constipation OMIM:234200 PANK2 80025 HP:0000953 Hyperpigmentation of the skin OMIM:234200 PANK2 80025 HP:0008770 Obsessive-compulsive trait OMIM:234200 PANK2 80025 HP:0002063 Rigidity OMIM:234200 PANK2 80025 HP:0002205 Recurrent respiratory infections OMIM:614959 KCNT1 57582 HP:0002079 Hypoplasia of the corpus callosum OMIM:614959 KCNT1 57582 HP:0003676 Progressive disorder OMIM:614959 KCNT1 57582 HP:0200134 Epileptic encephalopathy OMIM:614959 KCNT1 57582 HP:0001252 Muscular hypotonia OMIM:614959 KCNT1 57582 HP:0002445 Tetraplegia OMIM:614959 KCNT1 57582 HP:0001257 Spasticity OMIM:614959 KCNT1 57582 HP:0002376 Developmental regression OMIM:614959 KCNT1 57582 HP:0002120 Cerebral cortical atrophy OMIM:614959 KCNT1 57582 HP:0000817 Poor eye contact OMIM:614959 KCNT1 57582 HP:0000006 Autosomal dominant inheritance OMIM:614959 KCNT1 57582 HP:0000252 Microcephaly OMIM:614959 KCNT1 57582 HP:0002171 Gliosis OMIM:614959 KCNT1 57582 HP:0002529 Neuronal loss in central nervous system OMIM:614959 KCNT1 57582 HP:0002133 Status epilepticus OMIM:614959 KCNT1 57582 HP:0002169 Clonus OMIM:182980 VAPB 9217 HP:0003701 Proximal muscle weakness OMIM:182980 VAPB 9217 HP:0001265 Hyporeflexia OMIM:182980 VAPB 9217 HP:0003445 EMG: neuropathic changes OMIM:182980 VAPB 9217 HP:0000006 Autosomal dominant inheritance OMIM:182980 VAPB 9217 HP:0007269 Spinal muscular atrophy OMIM:182980 VAPB 9217 HP:0002380 Fasciculations OMIM:610755 CDKN1B 1027 HP:0100570 Carcinoid tumor OMIM:610755 CDKN1B 1027 HP:0006772 Renal angiomyolipoma OMIM:610755 CDKN1B 1027 HP:0002893 Pituitary adenoma OMIM:610755 CDKN1B 1027 HP:0002897 Parathyroid adenoma OMIM:610755 CDKN1B 1027 HP:0000845 Growth hormone excess OMIM:610755 CDKN1B 1027 HP:0000006 Autosomal dominant inheritance OMIM:218330 IFT122 55764 HP:0008905 Rhizomelia OMIM:218330 IFT122 55764 HP:0001156 Brachydactyly syndrome OMIM:218330 IFT122 55764 HP:0005567 Renal magnesium wasting OMIM:218330 IFT122 55764 HP:0000545 Myopia OMIM:218330 IFT122 55764 HP:0002240 Hepatomegaly OMIM:218330 IFT122 55764 HP:0000232 Everted lower lip vermilion OMIM:218330 IFT122 55764 HP:0002213 Fine hair OMIM:218330 IFT122 55764 HP:0009882 Short distal phalanx of finger OMIM:218330 IFT122 55764 HP:0004442 Sagittal craniosynostosis OMIM:218330 IFT122 55764 HP:0006297 Hypoplasia of dental enamel OMIM:218330 IFT122 55764 HP:0001837 Broad toe OMIM:218330 IFT122 55764 HP:0008070 Sparse hair OMIM:218330 IFT122 55764 HP:0012622 Chronic kidney disease OMIM:218330 IFT122 55764 HP:0003038 Fibular hypoplasia OMIM:218330 IFT122 55764 HP:0000939 Osteoporosis OMIM:218330 IFT122 55764 HP:0000674 Anodontia OMIM:218330 IFT122 55764 HP:0000668 Hypodontia OMIM:218330 IFT122 55764 HP:0001647 Bicuspid aortic valve OMIM:218330 IFT122 55764 HP:0001399 Hepatic failure OMIM:218330 IFT122 55764 HP:0000639 Nystagmus OMIM:218330 IFT122 55764 HP:0009466 Radial deviation of finger OMIM:218330 IFT122 55764 HP:0006563 Malformation of the hepatic ductal plate OMIM:218330 IFT122 55764 HP:0001799 Short nail OMIM:218330 IFT122 55764 HP:0000556 Retinal dystrophy OMIM:218330 IFT122 55764 HP:0000774 Narrow chest OMIM:218330 IFT122 55764 HP:0000601 Hypotelorism OMIM:218330 IFT122 55764 HP:0005792 Short humerus OMIM:218330 IFT122 55764 HP:0000293 Full cheeks OMIM:218330 IFT122 55764 HP:0001407 Hepatic cysts OMIM:218330 IFT122 55764 HP:0009880 Broad distal phalanges of all fingers OMIM:218330 IFT122 55764 HP:0000268 Dolichocephaly OMIM:218330 IFT122 55764 HP:0002217 Slow-growing hair OMIM:218330 IFT122 55764 HP:0000506 Telecanthus OMIM:218330 IFT122 55764 HP:0000463 Anteverted nares OMIM:218330 IFT122 55764 HP:0001388 Joint laxity OMIM:218330 IFT122 55764 HP:0001395 Hepatic fibrosis OMIM:218330 IFT122 55764 HP:0001538 Protuberant abdomen OMIM:218330 IFT122 55764 HP:0001816 Thin nail OMIM:218330 IFT122 55764 HP:0000954 Single transverse palmar crease OMIM:218330 IFT122 55764 HP:0003071 Flattened epiphysis OMIM:218330 IFT122 55764 HP:0002007 Frontal bossing OMIM:218330 IFT122 55764 HP:0000286 Epicanthus OMIM:218330 IFT122 55764 HP:0001970 Tubulointerstitial nephritis OMIM:218330 IFT122 55764 HP:0002901 Hypocalcemia OMIM:218330 IFT122 55764 HP:0000968 Ectodermal dysplasia OMIM:218330 IFT122 55764 HP:0000007 Autosomal recessive inheritance OMIM:218330 IFT122 55764 HP:0001831 Short toe OMIM:218330 IFT122 55764 HP:0000691 Microdontia OMIM:218330 IFT122 55764 HP:0000767 Pectus excavatum OMIM:218330 IFT122 55764 HP:0000773 Short ribs OMIM:218330 IFT122 55764 HP:0000431 Wide nasal bridge OMIM:218330 IFT122 55764 HP:0004298 Abnormality of the abdominal wall OMIM:218330 IFT122 55764 HP:0000687 Widely spaced teeth OMIM:218330 IFT122 55764 HP:0000218 High palate OMIM:616280 MARS 4141 HP:0001284 Areflexia OMIM:616280 MARS 4141 HP:0002936 Distal sensory impairment OMIM:616280 MARS 4141 HP:0009027 Foot dorsiflexor weakness OMIM:616280 MARS 4141 HP:0003477 Peripheral axonal neuropathy OMIM:616280 MARS 4141 HP:0003376 Steppage gait OMIM:261670 PGAM2 5224 HP:0003201 Rhabdomyolysis OMIM:261670 PGAM2 5224 HP:0000083 Renal insufficiency OMIM:261670 PGAM2 5224 HP:0003710 Exercise-induced muscle cramps OMIM:261670 PGAM2 5224 HP:0003198 Myopathy OMIM:261670 PGAM2 5224 HP:0003546 Exercise intolerance OMIM:261670 PGAM2 5224 HP:0003236 Elevated serum creatine phosphokinase OMIM:261670 PGAM2 5224 HP:0000007 Autosomal recessive inheritance OMIM:261670 PGAM2 5224 HP:0003738 Exercise-induced myalgia OMIM:261670 PGAM2 5224 HP:0002913 Myoglobinuria OMIM:206700 PAX6 5080 HP:0001321 Cerebellar hypoplasia OMIM:206700 PAX6 5080 HP:0100543 Cognitive impairment OMIM:206700 PAX6 5080 HP:0100022 Abnormality of movement OMIM:206700 PAX6 5080 HP:0000364 Hearing abnormality OMIM:206700 PAX6 5080 HP:0002311 Incoordination OMIM:206700 PAX6 5080 HP:0000526 Aniridia OMIM:206700 PAX6 5080 HP:0004414 Abnormality of the pulmonary artery OMIM:206700 PAX6 5080 HP:0008053 Aplasia/Hypoplasia of the iris OMIM:206700 PAX6 5080 HP:0000298 Mask-like facies OMIM:206700 PAX6 5080 HP:0000007 Autosomal recessive inheritance OMIM:206700 PAX6 5080 HP:0001249 Intellectual disability OMIM:206700 PAX6 5080 HP:0002167 Neurological speech impairment OMIM:206700 PAX6 5080 HP:0001251 Ataxia OMIM:206700 PAX6 5080 HP:0001252 Muscular hypotonia OMIM:255800 HSPG2 3339 HP:0004349 Reduced bone mineral density OMIM:255800 HSPG2 3339 HP:0000426 Prominent nasal bridge OMIM:255800 HSPG2 3339 HP:0002104 Apnea OMIM:255800 HSPG2 3339 HP:0000772 Abnormality of the ribs OMIM:255800 HSPG2 3339 HP:0001288 Gait disturbance OMIM:255800 HSPG2 3339 HP:0001561 Polyhydramnios OMIM:255800 HSPG2 3339 HP:0002047 Malignant hyperthermia OMIM:255800 HSPG2 3339 HP:0003202 Skeletal muscle atrophy OMIM:255800 HSPG2 3339 HP:0000470 Short neck OMIM:255800 HSPG2 3339 HP:0100543 Cognitive impairment OMIM:255800 HSPG2 3339 HP:0003326 Myalgia OMIM:255800 HSPG2 3339 HP:0000160 Narrow mouth OMIM:255800 HSPG2 3339 HP:0001315 Reduced tendon reflexes OMIM:255800 HSPG2 3339 HP:0001537 Umbilical hernia OMIM:255800 HSPG2 3339 HP:0003307 Hyperlordosis OMIM:255800 HSPG2 3339 HP:0010978 Abnormality of immune system physiology OMIM:255800 HSPG2 3339 HP:0000505 Visual impairment OMIM:255800 HSPG2 3339 HP:0000343 Long philtrum OMIM:255800 HSPG2 3339 HP:0008734 Decreased testicular size OMIM:255800 HSPG2 3339 HP:0000232 Everted lower lip vermilion OMIM:255800 HSPG2 3339 HP:0000396 Overfolded helix OMIM:255800 HSPG2 3339 HP:0000211 Trismus OMIM:255800 HSPG2 3339 HP:0000293 Full cheeks OMIM:255800 HSPG2 3339 HP:0001239 Wrist flexion contracture OMIM:255800 HSPG2 3339 HP:0000205 Pursed lips OMIM:255800 HSPG2 3339 HP:0006473 Anterior bowing of long bones OMIM:255800 HSPG2 3339 HP:0003417 Coronal cleft vertebrae OMIM:255800 HSPG2 3339 HP:0000787 Nephrolithiasis OMIM:255800 HSPG2 3339 HP:0000581 Blepharophimosis OMIM:255800 HSPG2 3339 HP:0001376 Limitation of joint mobility OMIM:255800 HSPG2 3339 HP:0001374 Congenital hip dislocation OMIM:255800 HSPG2 3339 HP:0001621 Weak voice OMIM:255800 HSPG2 3339 HP:0002486 Myotonia OMIM:255800 HSPG2 3339 HP:0000294 Low anterior hairline OMIM:255800 HSPG2 3339 HP:0004322 Short stature OMIM:255800 HSPG2 3339 HP:0011001 Increased bone mineral density OMIM:255800 HSPG2 3339 HP:0002750 Delayed skeletal maturation OMIM:255800 HSPG2 3339 HP:0000518 Cataract OMIM:255800 HSPG2 3339 HP:0001620 High pitched voice OMIM:255800 HSPG2 3339 HP:0000508 Ptosis OMIM:255800 HSPG2 3339 HP:0000926 Platyspondyly OMIM:255800 HSPG2 3339 HP:0000768 Pectus carinatum OMIM:255800 HSPG2 3339 HP:0002812 Coxa vara OMIM:255800 HSPG2 3339 HP:0000347 Micrognathia OMIM:255800 HSPG2 3339 HP:0000175 Cleft palate OMIM:255800 HSPG2 3339 HP:0001324 Muscle weakness OMIM:255800 HSPG2 3339 HP:0007740 Long eyelashes in irregular rows OMIM:255800 HSPG2 3339 HP:0001276 Hypertonia OMIM:255800 HSPG2 3339 HP:0001601 Laryngomalacia OMIM:255800 HSPG2 3339 HP:0003044 Shoulder flexion contracture OMIM:255800 HSPG2 3339 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:255800 HSPG2 3339 HP:0002167 Neurological speech impairment OMIM:255800 HSPG2 3339 HP:0000486 Strabismus OMIM:255800 HSPG2 3339 HP:0003016 Metaphyseal widening OMIM:255800 HSPG2 3339 HP:0000545 Myopia OMIM:255800 HSPG2 3339 HP:0005930 Abnormality of epiphysis morphology OMIM:255800 HSPG2 3339 HP:0000912 Sprengel anomaly OMIM:255800 HSPG2 3339 HP:0000600 Abnormality of the pharynx OMIM:255800 HSPG2 3339 HP:0001762 Talipes equinovarus OMIM:255800 HSPG2 3339 HP:0008872 Feeding difficulties in infancy OMIM:255800 HSPG2 3339 HP:0000944 Abnormality of the metaphyses OMIM:255800 HSPG2 3339 HP:0000939 Osteoporosis OMIM:255800 HSPG2 3339 HP:0000272 Malar flattening OMIM:255800 HSPG2 3339 HP:0001763 Pes planus OMIM:255800 HSPG2 3339 HP:0011675 Arrhythmia OMIM:255800 HSPG2 3339 HP:0003712 Skeletal muscle hypertrophy OMIM:255800 HSPG2 3339 HP:0002983 Micromelia OMIM:255800 HSPG2 3339 HP:0002650 Scoliosis OMIM:255800 HSPG2 3339 HP:0001557 Prenatal movement abnormality OMIM:255800 HSPG2 3339 HP:0001249 Intellectual disability OMIM:255800 HSPG2 3339 HP:0000316 Hypertelorism OMIM:255800 HSPG2 3339 HP:0005830 Flexion contracture of toe OMIM:255800 HSPG2 3339 HP:0000482 Microcornea OMIM:255800 HSPG2 3339 HP:0012368 Flat face OMIM:255800 HSPG2 3339 HP:0000069 Abnormality of the ureter OMIM:255800 HSPG2 3339 HP:0000767 Pectus excavatum OMIM:255800 HSPG2 3339 HP:0002645 Wormian bones OMIM:255800 HSPG2 3339 HP:0000369 Low-set ears OMIM:255800 HSPG2 3339 HP:0007018 Attention deficit hyperactivity disorder OMIM:255800 HSPG2 3339 HP:0003179 Protrusio acetabuli OMIM:255800 HSPG2 3339 HP:0002808 Kyphosis OMIM:255800 HSPG2 3339 HP:0100569 Abnormal vertebral ossification OMIM:255800 HSPG2 3339 HP:0003042 Elbow dislocation OMIM:255800 HSPG2 3339 HP:0000534 Abnormality of the eyebrow OMIM:255800 HSPG2 3339 HP:0004325 Decreased body weight OMIM:255800 HSPG2 3339 HP:0003273 Hip contracture OMIM:255800 HSPG2 3339 HP:0000368 Low-set, posteriorly rotated ears OMIM:255800 HSPG2 3339 HP:0003457 EMG abnormality OMIM:255800 HSPG2 3339 HP:0003306 Spinal rigidity OMIM:255800 HSPG2 3339 HP:0001883 Talipes OMIM:255800 HSPG2 3339 HP:0002652 Skeletal dysplasia OMIM:255800 HSPG2 3339 HP:0002938 Lumbar hyperlordosis OMIM:255800 HSPG2 3339 HP:0002673 Coxa valga OMIM:255800 HSPG2 3339 HP:0000252 Microcephaly OMIM:255800 HSPG2 3339 HP:0100612 Odontogenic neoplasm OMIM:255800 HSPG2 3339 HP:0000023 Inguinal hernia OMIM:255800 HSPG2 3339 HP:0100795 Abnormally straight spine OMIM:255800 HSPG2 3339 HP:0002093 Respiratory insufficiency OMIM:255800 HSPG2 3339 HP:0000007 Autosomal recessive inheritance OMIM:255800 HSPG2 3339 HP:0002092 Pulmonary hypertension OMIM:255800 HSPG2 3339 HP:0100813 Testicular torsion OMIM:255800 HSPG2 3339 HP:0003198 Myopathy OMIM:255800 HSPG2 3339 HP:0006499 Abnormality of femoral epiphysis OMIM:255800 HSPG2 3339 HP:0002804 Arthrogryposis multiplex congenita OMIM:255800 HSPG2 3339 HP:0002857 Genu valgum OMIM:255800 HSPG2 3339 HP:0009473 Joint contracture of the hand OMIM:255800 HSPG2 3339 HP:0001265 Hyporeflexia OMIM:255800 HSPG2 3339 HP:0002751 Kyphoscoliosis OMIM:255800 HSPG2 3339 HP:0000998 Hypertrichosis OMIM:255800 HSPG2 3339 HP:0001083 Ectopia lentis OMIM:255800 HSPG2 3339 HP:0000298 Mask-like facies OMIM:255800 HSPG2 3339 HP:0009743 Distichiasis OMIM:255800 HSPG2 3339 HP:0002230 Generalized hirsutism OMIM:616001 PTPRF 5792 HP:0002561 Absent nipple OMIM:616001 PTPRF 5792 HP:0000319 Smooth philtrum OMIM:616001 PTPRF 5792 HP:0000455 Broad nasal tip OMIM:616001 PTPRF 5792 HP:0000385 Small earlobe OMIM:277380 LMBRD1 55788 HP:0000369 Low-set ears OMIM:277380 LMBRD1 55788 HP:0001875 Neutropenia OMIM:277380 LMBRD1 55788 HP:0002311 Incoordination OMIM:277380 LMBRD1 55788 HP:0004372 Reduced consciousness/confusion OMIM:277380 LMBRD1 55788 HP:0003223 Decreased methylcobalamin OMIM:277380 LMBRD1 55788 HP:0002912 Methylmalonic acidemia OMIM:277380 LMBRD1 55788 HP:0001252 Muscular hypotonia OMIM:277380 LMBRD1 55788 HP:0001508 Failure to thrive OMIM:277380 LMBRD1 55788 HP:0002160 Hyperhomocystinemia OMIM:277380 LMBRD1 55788 HP:0000163 Abnormality of the oral cavity OMIM:277380 LMBRD1 55788 HP:0001889 Megaloblastic anemia OMIM:277380 LMBRD1 55788 HP:0000007 Autosomal recessive inheritance OMIM:277380 LMBRD1 55788 HP:0010280 Stomatitis OMIM:277380 LMBRD1 55788 HP:0000988 Skin rash OMIM:277380 LMBRD1 55788 HP:0002376 Developmental regression OMIM:277380 LMBRD1 55788 HP:0000206 Glossitis OMIM:277380 LMBRD1 55788 HP:0000286 Epicanthus OMIM:277380 LMBRD1 55788 HP:0008872 Feeding difficulties in infancy OMIM:277380 LMBRD1 55788 HP:0001873 Thrombocytopenia OMIM:277380 LMBRD1 55788 HP:0001263 Global developmental delay OMIM:277380 LMBRD1 55788 HP:0000708 Behavioral abnormality OMIM:277380 LMBRD1 55788 HP:0003593 Infantile onset OMIM:277380 LMBRD1 55788 HP:0000219 Thin upper lip vermilion OMIM:277380 LMBRD1 55788 HP:0001254 Lethargy OMIM:277380 LMBRD1 55788 HP:0012120 Methylmalonic aciduria OMIM:277380 LMBRD1 55788 HP:0000218 High palate OMIM:277380 LMBRD1 55788 HP:0003286 Cystathioninemia OMIM:277380 LMBRD1 55788 HP:0003153 Cystathioninuria OMIM:277380 LMBRD1 55788 HP:0008551 Microtia OMIM:277380 LMBRD1 55788 HP:0003145 Decreased adenosylcobalamin OMIM:277380 LMBRD1 55788 HP:0003524 Decreased methionine synthase activity OMIM:277380 LMBRD1 55788 HP:0001250 Seizures OMIM:277380 LMBRD1 55788 HP:0002156 Homocystinuria OMIM:277380 LMBRD1 55788 HP:0001876 Pancytopenia OMIM:300854 TFE3 7030 HP:0005584 Renal cell carcinoma OMIM:300854 TFE3 7030 HP:0001428 Somatic mutation OMIM:225410 ADAMTS2 9509 HP:0002650 Scoliosis OMIM:225410 ADAMTS2 9509 HP:0003272 Abnormality of the hip bone OMIM:225410 ADAMTS2 9509 HP:0001376 Limitation of joint mobility OMIM:225410 ADAMTS2 9509 HP:0001388 Joint laxity OMIM:225410 ADAMTS2 9509 HP:0000316 Hypertelorism OMIM:225410 ADAMTS2 9509 HP:0001928 Abnormality of coagulation OMIM:225410 ADAMTS2 9509 HP:0001788 Premature rupture of membranes OMIM:225410 ADAMTS2 9509 HP:0002167 Neurological speech impairment OMIM:225410 ADAMTS2 9509 HP:0001007 Hirsutism OMIM:225410 ADAMTS2 9509 HP:0005332 Recurrent mandibular subluxations OMIM:225410 ADAMTS2 9509 HP:0000978 Bruising susceptibility OMIM:225410 ADAMTS2 9509 HP:0000347 Micrognathia OMIM:225410 ADAMTS2 9509 HP:0004322 Short stature OMIM:225410 ADAMTS2 9509 HP:0200094 Frontal open bite OMIM:225410 ADAMTS2 9509 HP:0001537 Umbilical hernia OMIM:225410 ADAMTS2 9509 HP:0000260 Wide anterior fontanel OMIM:225410 ADAMTS2 9509 HP:0005280 Depressed nasal bridge OMIM:225410 ADAMTS2 9509 HP:0001270 Motor delay OMIM:225410 ADAMTS2 9509 HP:0010749 Blepharochalasis OMIM:225410 ADAMTS2 9509 HP:0002983 Micromelia OMIM:225410 ADAMTS2 9509 HP:0000974 Hyperextensible skin OMIM:225410 ADAMTS2 9509 HP:0001831 Short toe OMIM:225410 ADAMTS2 9509 HP:0001622 Premature birth OMIM:225410 ADAMTS2 9509 HP:0009803 Short phalanx of finger OMIM:225410 ADAMTS2 9509 HP:0004349 Reduced bone mineral density OMIM:225410 ADAMTS2 9509 HP:0000987 Atypical scarring of skin OMIM:225410 ADAMTS2 9509 HP:0000494 Downslanted palpebral fissures OMIM:225410 ADAMTS2 9509 HP:0001373 Joint dislocation OMIM:225410 ADAMTS2 9509 HP:0000286 Epicanthus OMIM:225410 ADAMTS2 9509 HP:0001027 Soft, doughy skin OMIM:225410 ADAMTS2 9509 HP:0004876 Spontaneous neonatal pneumothorax OMIM:225410 ADAMTS2 9509 HP:0006344 Abnormality of primary molar morphology OMIM:225410 ADAMTS2 9509 HP:0000023 Inguinal hernia OMIM:225410 ADAMTS2 9509 HP:0000938 Osteopenia OMIM:225410 ADAMTS2 9509 HP:0001252 Muscular hypotonia OMIM:225410 ADAMTS2 9509 HP:0000592 Blue sclerae OMIM:225410 ADAMTS2 9509 HP:0000225 Gingival bleeding OMIM:225410 ADAMTS2 9509 HP:0012471 Thick vermilion border OMIM:225410 ADAMTS2 9509 HP:0000222 Gingival hyperkeratosis OMIM:225410 ADAMTS2 9509 HP:0001476 Delayed closure of the anterior fontanelle OMIM:225410 ADAMTS2 9509 HP:0000212 Gingival overgrowth OMIM:225410 ADAMTS2 9509 HP:0000963 Thin skin OMIM:225410 ADAMTS2 9509 HP:0001030 Fragile skin OMIM:225410 ADAMTS2 9509 HP:0000545 Myopia OMIM:225410 ADAMTS2 9509 HP:0000668 Hypodontia OMIM:225410 ADAMTS2 9509 HP:0000007 Autosomal recessive inheritance OMIM:225410 ADAMTS2 9509 HP:0001582 Redundant skin OMIM:225410 ADAMTS2 9509 HP:0000232 Everted lower lip vermilion OMIM:609460 KIF1BP 26128 HP:0002251 Aganglionic megacolon OMIM:609460 KIF1BP 26128 HP:0001252 Muscular hypotonia OMIM:609460 KIF1BP 26128 HP:0012804 Corneal ulceration OMIM:609460 KIF1BP 26128 HP:0000574 Thick eyebrow OMIM:609460 KIF1BP 26128 HP:0100627 Displacement of the external urethral meatus OMIM:609460 KIF1BP 26128 HP:0011362 Abnormal hair quantity OMIM:609460 KIF1BP 26128 HP:0002079 Hypoplasia of the corpus callosum OMIM:609460 KIF1BP 26128 HP:0002269 Abnormality of neuronal migration OMIM:609460 KIF1BP 26128 HP:0000175 Cleft palate OMIM:609460 KIF1BP 26128 HP:0000431 Wide nasal bridge OMIM:609460 KIF1BP 26128 HP:0004322 Short stature OMIM:609460 KIF1BP 26128 HP:0008070 Sparse hair OMIM:609460 KIF1BP 26128 HP:0000508 Ptosis OMIM:609460 KIF1BP 26128 HP:0012471 Thick vermilion border OMIM:609460 KIF1BP 26128 HP:0002365 Hypoplasia of the brainstem OMIM:609460 KIF1BP 26128 HP:0000307 Pointed chin OMIM:609460 KIF1BP 26128 HP:0100543 Cognitive impairment OMIM:609460 KIF1BP 26128 HP:0000322 Short philtrum OMIM:609460 KIF1BP 26128 HP:0006610 Wide intermamillary distance OMIM:609460 KIF1BP 26128 HP:0000470 Short neck OMIM:609460 KIF1BP 26128 HP:0002119 Ventriculomegaly OMIM:609460 KIF1BP 26128 HP:0000369 Low-set ears OMIM:609460 KIF1BP 26128 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:609460 KIF1BP 26128 HP:0000494 Downslanted palpebral fissures OMIM:609460 KIF1BP 26128 HP:0001250 Seizures OMIM:609460 KIF1BP 26128 HP:0000414 Bulbous nose OMIM:609460 KIF1BP 26128 HP:0000252 Microcephaly OMIM:609460 KIF1BP 26128 HP:0030084 Clinodactyly OMIM:609460 KIF1BP 26128 HP:0000232 Everted lower lip vermilion OMIM:609460 KIF1BP 26128 HP:0000506 Telecanthus OMIM:609460 KIF1BP 26128 HP:0001182 Tapered finger OMIM:609460 KIF1BP 26128 HP:0000316 Hypertelorism OMIM:609460 KIF1BP 26128 HP:0001249 Intellectual disability OMIM:609460 KIF1BP 26128 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:609460 KIF1BP 26128 HP:0001263 Global developmental delay OMIM:609460 KIF1BP 26128 HP:0000664 Synophrys OMIM:609460 KIF1BP 26128 HP:0000612 Iris coloboma OMIM:609460 KIF1BP 26128 HP:0000592 Blue sclerae OMIM:609460 KIF1BP 26128 HP:0000400 Macrotia OMIM:609460 KIF1BP 26128 HP:0000007 Autosomal recessive inheritance OMIM:609460 KIF1BP 26128 HP:0002120 Cerebral cortical atrophy OMIM:609460 KIF1BP 26128 HP:0002126 Polymicrogyria OMIM:609460 KIF1BP 26128 HP:0006101 Finger syndactyly OMIM:609460 KIF1BP 26128 HP:0200020 Corneal erosion OMIM:609460 KIF1BP 26128 HP:0000340 Sloping forehead OMIM:609460 KIF1BP 26128 HP:0000485 Megalocornea OMIM:609460 KIF1BP 26128 HP:0000327 Hypoplasia of the maxilla OMIM:609460 KIF1BP 26128 HP:0000426 Prominent nasal bridge OMIM:609460 KIF1BP 26128 HP:0002553 Highly arched eyebrow OMIM:609460 KIF1BP 26128 HP:0200055 Small hand OMIM:609460 KIF1BP 26128 HP:0001302 Pachygyria OMIM:609307 FGF14 2259 HP:0000486 Strabismus OMIM:609307 FGF14 2259 HP:0001260 Dysarthria OMIM:609307 FGF14 2259 HP:0000640 Gaze-evoked nystagmus OMIM:609307 FGF14 2259 HP:0002078 Truncal ataxia OMIM:609307 FGF14 2259 HP:0002066 Gait ataxia OMIM:609307 FGF14 2259 HP:0003390 Sensory axonal neuropathy OMIM:609307 FGF14 2259 HP:0000716 Depression OMIM:609307 FGF14 2259 HP:0002310 Orofacial dyskinesia OMIM:609307 FGF14 2259 HP:0000641 Dysmetric saccades OMIM:609307 FGF14 2259 HP:0002174 Postural tremor OMIM:609307 FGF14 2259 HP:0007772 Impaired smooth pursuit OMIM:609307 FGF14 2259 HP:0002495 Impaired vibratory sensation OMIM:609307 FGF14 2259 HP:0000006 Autosomal dominant inheritance OMIM:609307 FGF14 2259 HP:0003677 Slow progression OMIM:609307 FGF14 2259 HP:0001256 Intellectual disability, mild OMIM:609307 FGF14 2259 HP:0002354 Memory impairment OMIM:609307 FGF14 2259 HP:0001761 Pes cavus OMIM:609307 FGF14 2259 HP:0002070 Limb ataxia OMIM:609307 FGF14 2259 HP:0002346 Head tremor OMIM:609307 FGF14 2259 HP:0001272 Cerebellar atrophy OMIM:611523 RARS2 57038 HP:0001321 Cerebellar hypoplasia OMIM:611523 RARS2 57038 HP:0000189 Narrow palate OMIM:611523 RARS2 57038 HP:0000426 Prominent nasal bridge OMIM:611523 RARS2 57038 HP:0002421 Poor head control OMIM:611523 RARS2 57038 HP:0001263 Global developmental delay OMIM:611523 RARS2 57038 HP:0001347 Hyperreflexia OMIM:611523 RARS2 57038 HP:0003577 Congenital onset OMIM:611523 RARS2 57038 HP:0001508 Failure to thrive OMIM:611523 RARS2 57038 HP:0001252 Muscular hypotonia OMIM:611523 RARS2 57038 HP:0006986 Upper limb spasticity OMIM:611523 RARS2 57038 HP:0000490 Deeply set eye OMIM:611523 RARS2 57038 HP:0003676 Progressive disorder OMIM:611523 RARS2 57038 HP:0003819 Death in childhood OMIM:611523 RARS2 57038 HP:0002059 Cerebral atrophy OMIM:611523 RARS2 57038 HP:0002061 Lower limb spasticity OMIM:611523 RARS2 57038 HP:0002033 Poor suck OMIM:611523 RARS2 57038 HP:0000341 Narrow forehead OMIM:611523 RARS2 57038 HP:0001250 Seizures OMIM:611523 RARS2 57038 HP:0000007 Autosomal recessive inheritance OMIM:611523 RARS2 57038 HP:0002151 Increased serum lactate OMIM:611523 RARS2 57038 HP:0001272 Cerebellar atrophy OMIM:611523 RARS2 57038 HP:0002490 Increased CSF lactate OMIM:611523 RARS2 57038 HP:0002104 Apnea OMIM:611523 RARS2 57038 HP:0000253 Progressive microcephaly ORPHANET:220493 CEP41 95681 HP:0002084 Encephalocele ORPHANET:220493 CEP41 95681 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:220493 CEP41 95681 HP:0000238 Hydrocephalus ORPHANET:220493 CEP41 95681 HP:0100543 Cognitive impairment ORPHANET:220493 CEP41 95681 HP:0002650 Scoliosis ORPHANET:220493 CEP41 95681 HP:0001288 Gait disturbance ORPHANET:220493 CEP41 95681 HP:0001252 Muscular hypotonia ORPHANET:220493 CEP41 95681 HP:0000612 Iris coloboma ORPHANET:220493 CEP41 95681 HP:0000463 Anteverted nares ORPHANET:220493 CEP41 95681 HP:0000486 Strabismus ORPHANET:220493 CEP41 95681 HP:0002104 Apnea ORPHANET:220493 CEP41 95681 HP:0001250 Seizures ORPHANET:220493 CEP41 95681 HP:0000276 Long face ORPHANET:220493 CEP41 95681 HP:0000639 Nystagmus ORPHANET:220493 CEP41 95681 HP:0002251 Aganglionic megacolon ORPHANET:220493 CEP41 95681 HP:0000426 Prominent nasal bridge ORPHANET:220493 CEP41 95681 HP:0000341 Narrow forehead ORPHANET:220493 CEP41 95681 HP:0000202 Oral cleft ORPHANET:220493 CEP41 95681 HP:0000567 Chorioretinal coloboma ORPHANET:220493 CEP41 95681 HP:0001829 Foot polydactyly ORPHANET:220493 CEP41 95681 HP:0001337 Tremor ORPHANET:220493 CEP41 95681 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:220493 CEP41 95681 HP:0001161 Hand polydactyly ORPHANET:220493 CEP41 95681 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:220493 CEP41 95681 HP:0000657 Oculomotor apraxia ORPHANET:220493 CEP41 95681 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:220493 CEP41 95681 HP:0000508 Ptosis ORPHANET:220493 CEP41 95681 HP:0002269 Abnormality of neuronal migration ORPHANET:220493 CEP41 95681 HP:0002311 Incoordination ORPHANET:220493 CEP41 95681 HP:0001696 Situs inversus totalis ORPHANET:220493 CEP41 95681 HP:0002553 Highly arched eyebrow ORPHANET:220493 CEP41 95681 HP:0000505 Visual impairment ORPHANET:220493 MKS1 54903 HP:0002084 Encephalocele ORPHANET:220493 MKS1 54903 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:220493 MKS1 54903 HP:0000238 Hydrocephalus ORPHANET:220493 MKS1 54903 HP:0100543 Cognitive impairment ORPHANET:220493 MKS1 54903 HP:0002650 Scoliosis ORPHANET:220493 MKS1 54903 HP:0001288 Gait disturbance ORPHANET:220493 MKS1 54903 HP:0001252 Muscular hypotonia ORPHANET:220493 MKS1 54903 HP:0000612 Iris coloboma ORPHANET:220493 MKS1 54903 HP:0000463 Anteverted nares ORPHANET:220493 MKS1 54903 HP:0000486 Strabismus ORPHANET:220493 MKS1 54903 HP:0002104 Apnea ORPHANET:220493 MKS1 54903 HP:0001250 Seizures ORPHANET:220493 MKS1 54903 HP:0000276 Long face ORPHANET:220493 MKS1 54903 HP:0000639 Nystagmus ORPHANET:220493 MKS1 54903 HP:0002251 Aganglionic megacolon ORPHANET:220493 MKS1 54903 HP:0000426 Prominent nasal bridge ORPHANET:220493 MKS1 54903 HP:0000341 Narrow forehead ORPHANET:220493 MKS1 54903 HP:0000202 Oral cleft ORPHANET:220493 MKS1 54903 HP:0000567 Chorioretinal coloboma ORPHANET:220493 MKS1 54903 HP:0001829 Foot polydactyly ORPHANET:220493 MKS1 54903 HP:0001337 Tremor ORPHANET:220493 MKS1 54903 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:220493 MKS1 54903 HP:0001161 Hand polydactyly ORPHANET:220493 MKS1 54903 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:220493 MKS1 54903 HP:0000657 Oculomotor apraxia ORPHANET:220493 MKS1 54903 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:220493 MKS1 54903 HP:0000508 Ptosis ORPHANET:220493 MKS1 54903 HP:0002269 Abnormality of neuronal migration ORPHANET:220493 MKS1 54903 HP:0002311 Incoordination ORPHANET:220493 MKS1 54903 HP:0001696 Situs inversus totalis ORPHANET:220493 MKS1 54903 HP:0002553 Highly arched eyebrow ORPHANET:220493 MKS1 54903 HP:0000505 Visual impairment ORPHANET:220493 AHI1 54806 HP:0002084 Encephalocele ORPHANET:220493 AHI1 54806 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:220493 AHI1 54806 HP:0000238 Hydrocephalus ORPHANET:220493 AHI1 54806 HP:0100543 Cognitive impairment ORPHANET:220493 AHI1 54806 HP:0002650 Scoliosis ORPHANET:220493 AHI1 54806 HP:0001288 Gait disturbance ORPHANET:220493 AHI1 54806 HP:0001252 Muscular hypotonia ORPHANET:220493 AHI1 54806 HP:0000612 Iris coloboma ORPHANET:220493 AHI1 54806 HP:0000463 Anteverted nares ORPHANET:220493 AHI1 54806 HP:0000486 Strabismus ORPHANET:220493 AHI1 54806 HP:0002104 Apnea ORPHANET:220493 AHI1 54806 HP:0001250 Seizures ORPHANET:220493 AHI1 54806 HP:0000276 Long face ORPHANET:220493 AHI1 54806 HP:0000639 Nystagmus ORPHANET:220493 AHI1 54806 HP:0002251 Aganglionic megacolon ORPHANET:220493 AHI1 54806 HP:0000426 Prominent nasal bridge ORPHANET:220493 AHI1 54806 HP:0000341 Narrow forehead ORPHANET:220493 AHI1 54806 HP:0000202 Oral cleft ORPHANET:220493 AHI1 54806 HP:0000567 Chorioretinal coloboma ORPHANET:220493 AHI1 54806 HP:0001829 Foot polydactyly ORPHANET:220493 AHI1 54806 HP:0001337 Tremor ORPHANET:220493 AHI1 54806 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:220493 AHI1 54806 HP:0001161 Hand polydactyly ORPHANET:220493 AHI1 54806 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:220493 AHI1 54806 HP:0000657 Oculomotor apraxia ORPHANET:220493 AHI1 54806 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:220493 AHI1 54806 HP:0000508 Ptosis ORPHANET:220493 AHI1 54806 HP:0002269 Abnormality of neuronal migration ORPHANET:220493 AHI1 54806 HP:0002311 Incoordination ORPHANET:220493 AHI1 54806 HP:0001696 Situs inversus totalis ORPHANET:220493 AHI1 54806 HP:0002553 Highly arched eyebrow ORPHANET:220493 AHI1 54806 HP:0000505 Visual impairment ORPHANET:220493 INPP5E 56623 HP:0002084 Encephalocele ORPHANET:220493 INPP5E 56623 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:220493 INPP5E 56623 HP:0000238 Hydrocephalus ORPHANET:220493 INPP5E 56623 HP:0100543 Cognitive impairment ORPHANET:220493 INPP5E 56623 HP:0002650 Scoliosis ORPHANET:220493 INPP5E 56623 HP:0001288 Gait disturbance ORPHANET:220493 INPP5E 56623 HP:0001252 Muscular hypotonia ORPHANET:220493 INPP5E 56623 HP:0000612 Iris coloboma ORPHANET:220493 INPP5E 56623 HP:0000463 Anteverted nares ORPHANET:220493 INPP5E 56623 HP:0000486 Strabismus ORPHANET:220493 INPP5E 56623 HP:0002104 Apnea ORPHANET:220493 INPP5E 56623 HP:0001250 Seizures ORPHANET:220493 INPP5E 56623 HP:0000276 Long face ORPHANET:220493 INPP5E 56623 HP:0000639 Nystagmus ORPHANET:220493 INPP5E 56623 HP:0002251 Aganglionic megacolon ORPHANET:220493 INPP5E 56623 HP:0000426 Prominent nasal bridge ORPHANET:220493 INPP5E 56623 HP:0000341 Narrow forehead ORPHANET:220493 INPP5E 56623 HP:0000202 Oral cleft ORPHANET:220493 INPP5E 56623 HP:0000567 Chorioretinal coloboma ORPHANET:220493 INPP5E 56623 HP:0001829 Foot polydactyly ORPHANET:220493 INPP5E 56623 HP:0001337 Tremor ORPHANET:220493 INPP5E 56623 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:220493 INPP5E 56623 HP:0001161 Hand polydactyly ORPHANET:220493 INPP5E 56623 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:220493 INPP5E 56623 HP:0000657 Oculomotor apraxia ORPHANET:220493 INPP5E 56623 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:220493 INPP5E 56623 HP:0000508 Ptosis ORPHANET:220493 INPP5E 56623 HP:0002269 Abnormality of neuronal migration ORPHANET:220493 INPP5E 56623 HP:0002311 Incoordination ORPHANET:220493 INPP5E 56623 HP:0001696 Situs inversus totalis ORPHANET:220493 INPP5E 56623 HP:0002553 Highly arched eyebrow ORPHANET:220493 INPP5E 56623 HP:0000505 Visual impairment ORPHANET:505 HLA-DRA 3122 HP:0100725 Lichenification ORPHANET:505 HLA-DRA 3122 HP:0001596 Alopecia ORPHANET:505 HLA-DRA 3122 HP:0000989 Pruritus ORPHANET:505 HLA-DRA 3122 HP:0000962 Hyperkeratosis OMIM:612541 G6PC3 92579 HP:0000365 Hearing impairment OMIM:612541 G6PC3 92579 HP:0001263 Global developmental delay OMIM:612541 G6PC3 92579 HP:0001903 Anemia OMIM:612541 G6PC3 92579 HP:0001643 Patent ductus arteriosus OMIM:612541 G6PC3 92579 HP:0000126 Hydronephrosis OMIM:612541 G6PC3 92579 HP:0000007 Autosomal recessive inheritance OMIM:612541 G6PC3 92579 HP:0001642 Pulmonic stenosis OMIM:612541 G6PC3 92579 HP:0012133 Erythroid hypoplasia OMIM:612541 G6PC3 92579 HP:0000431 Wide nasal bridge OMIM:612541 G6PC3 92579 HP:0002718 Recurrent bacterial infections OMIM:612541 G6PC3 92579 HP:0002093 Respiratory insufficiency OMIM:612541 G6PC3 92579 HP:0001873 Thrombocytopenia OMIM:612541 G6PC3 92579 HP:0002092 Pulmonary hypertension OMIM:612541 G6PC3 92579 HP:0001510 Growth delay OMIM:612541 G6PC3 92579 HP:0000218 High palate OMIM:612541 G6PC3 92579 HP:0002205 Recurrent respiratory infections OMIM:612541 G6PC3 92579 HP:0012311 Monocytosis OMIM:612541 G6PC3 92579 HP:0000175 Cleft palate OMIM:612541 G6PC3 92579 HP:0001744 Splenomegaly OMIM:612541 G6PC3 92579 HP:0002240 Hepatomegaly OMIM:612541 G6PC3 92579 HP:0000778 Hypoplasia of the thymus OMIM:612541 G6PC3 92579 HP:0002619 Varicose veins OMIM:612541 G6PC3 92579 HP:0011304 Broad thumb OMIM:612541 G6PC3 92579 HP:0001875 Neutropenia OMIM:612541 G6PC3 92579 HP:0000768 Pectus carinatum OMIM:612541 G6PC3 92579 HP:0030084 Clinodactyly OMIM:612541 G6PC3 92579 HP:0001631 Defect in the atrial septum OMIM:612541 G6PC3 92579 HP:0001653 Mitral regurgitation OMIM:612541 G6PC3 92579 HP:0000252 Microcephaly OMIM:612541 G6PC3 92579 HP:0001888 Lymphopenia OMIM:612541 G6PC3 92579 HP:0003812 Phenotypic variability OMIM:612541 G6PC3 92579 HP:0000954 Single transverse palmar crease OMIM:612541 G6PC3 92579 HP:0001508 Failure to thrive OMIM:612541 G6PC3 92579 HP:0000028 Cryptorchidism OMIM:612541 G6PC3 92579 HP:0100806 Sepsis OMIM:302950 ARSE 415 HP:0004322 Short stature OMIM:302950 ARSE 415 HP:0009882 Short distal phalanx of finger OMIM:302950 ARSE 415 HP:0001263 Global developmental delay OMIM:302950 ARSE 415 HP:0010655 Epiphyseal stippling OMIM:302950 ARSE 415 HP:0001419 X-linked recessive inheritance OMIM:302950 ARSE 415 HP:0008064 Ichthyosis OMIM:302950 ARSE 415 HP:0000252 Microcephaly OMIM:302950 ARSE 415 HP:0000458 Anosmia OMIM:302950 ARSE 415 HP:0000518 Cataract OMIM:302950 ARSE 415 HP:0003196 Short nose OMIM:302950 ARSE 415 HP:0000420 Short nasal septum OMIM:302950 ARSE 415 HP:0000925 Abnormality of the vertebral column OMIM:302950 ARSE 415 HP:0005280 Depressed nasal bridge OMIM:302950 ARSE 415 HP:0000135 Hypogonadism OMIM:302950 ARSE 415 HP:0000365 Hearing impairment OMIM:112500 IHH 3549 HP:0004279 Short palm OMIM:112500 IHH 3549 HP:0005194 Flattened metatarsal heads OMIM:112500 IHH 3549 HP:0006165 Proportionate shortening of all digits OMIM:112500 IHH 3549 HP:0009462 Radial deviation of the 3rd finger OMIM:112500 IHH 3549 HP:0009467 Radial deviation of the 2nd finger OMIM:112500 IHH 3549 HP:0010049 Short metacarpal OMIM:112500 IHH 3549 HP:0000006 Autosomal dominant inheritance OMIM:112500 IHH 3549 HP:0009882 Short distal phalanx of finger OMIM:112500 IHH 3549 HP:0006146 Broad metacarpal epiphyses OMIM:112500 IHH 3549 HP:0001425 Heterogeneous OMIM:112500 IHH 3549 HP:0010107 Short proximal phalanx of hallux OMIM:112500 IHH 3549 HP:0006213 Thin proximal phalanges with broad epiphyses of the hand OMIM:112500 IHH 3549 HP:0001032 Absent distal interphalangeal creases OMIM:112500 IHH 3549 HP:0001156 Brachydactyly syndrome OMIM:112500 IHH 3549 HP:0001169 Broad palm OMIM:112500 IHH 3549 HP:0004209 Clinodactyly of the 5th finger OMIM:112500 IHH 3549 HP:0001204 Distal symphalangism (hands) OMIM:112500 IHH 3549 HP:0006236 Slender metacarpals OMIM:112500 IHH 3549 HP:0004322 Short stature OMIM:112500 IHH 3549 HP:0009638 Short proximal phalanx of thumb OMIM:112500 IHH 3549 HP:0009279 Radial deviation of the 4th finger ORPHANET:3449 FBN1 2200 HP:0001072 Thickened skin ORPHANET:3449 FBN1 2200 HP:0000501 Glaucoma ORPHANET:3449 FBN1 2200 HP:0001633 Abnormality of the mitral valve ORPHANET:3449 FBN1 2200 HP:0000505 Visual impairment ORPHANET:3449 FBN1 2200 HP:0001376 Limitation of joint mobility ORPHANET:3449 FBN1 2200 HP:0100543 Cognitive impairment ORPHANET:3449 FBN1 2200 HP:0008063 Aplasia/Hypoplasia of the lens ORPHANET:3449 FBN1 2200 HP:0000545 Myopia ORPHANET:3449 FBN1 2200 HP:0001629 Ventricular septal defect ORPHANET:3449 FBN1 2200 HP:0004322 Short stature ORPHANET:3449 FBN1 2200 HP:0001156 Brachydactyly syndrome ORPHANET:3449 FBN1 2200 HP:0001646 Abnormality of the aortic valve ORPHANET:3449 FBN1 2200 HP:0001831 Short toe ORPHANET:3449 FBN1 2200 HP:0000518 Cataract ORPHANET:3449 FBN1 2200 HP:0001083 Ectopia lentis ORPHANET:3449 FBN1 2200 HP:0001641 Abnormality of the pulmonary valve ORPHANET:3449 LTBP2 4053 HP:0001072 Thickened skin ORPHANET:3449 LTBP2 4053 HP:0000501 Glaucoma ORPHANET:3449 LTBP2 4053 HP:0001633 Abnormality of the mitral valve ORPHANET:3449 LTBP2 4053 HP:0000505 Visual impairment ORPHANET:3449 LTBP2 4053 HP:0001376 Limitation of joint mobility ORPHANET:3449 LTBP2 4053 HP:0100543 Cognitive impairment ORPHANET:3449 LTBP2 4053 HP:0008063 Aplasia/Hypoplasia of the lens ORPHANET:3449 LTBP2 4053 HP:0000545 Myopia ORPHANET:3449 LTBP2 4053 HP:0001629 Ventricular septal defect ORPHANET:3449 LTBP2 4053 HP:0004322 Short stature ORPHANET:3449 LTBP2 4053 HP:0001156 Brachydactyly syndrome ORPHANET:3449 LTBP2 4053 HP:0001646 Abnormality of the aortic valve ORPHANET:3449 LTBP2 4053 HP:0001831 Short toe ORPHANET:3449 LTBP2 4053 HP:0000518 Cataract ORPHANET:3449 LTBP2 4053 HP:0001083 Ectopia lentis ORPHANET:3449 LTBP2 4053 HP:0001641 Abnormality of the pulmonary valve ORPHANET:3449 ADAMTS10 81794 HP:0001072 Thickened skin ORPHANET:3449 ADAMTS10 81794 HP:0000501 Glaucoma ORPHANET:3449 ADAMTS10 81794 HP:0001633 Abnormality of the mitral valve ORPHANET:3449 ADAMTS10 81794 HP:0000505 Visual impairment ORPHANET:3449 ADAMTS10 81794 HP:0001376 Limitation of joint mobility ORPHANET:3449 ADAMTS10 81794 HP:0100543 Cognitive impairment ORPHANET:3449 ADAMTS10 81794 HP:0008063 Aplasia/Hypoplasia of the lens ORPHANET:3449 ADAMTS10 81794 HP:0000545 Myopia ORPHANET:3449 ADAMTS10 81794 HP:0001629 Ventricular septal defect ORPHANET:3449 ADAMTS10 81794 HP:0004322 Short stature ORPHANET:3449 ADAMTS10 81794 HP:0001156 Brachydactyly syndrome ORPHANET:3449 ADAMTS10 81794 HP:0001646 Abnormality of the aortic valve ORPHANET:3449 ADAMTS10 81794 HP:0001831 Short toe ORPHANET:3449 ADAMTS10 81794 HP:0000518 Cataract ORPHANET:3449 ADAMTS10 81794 HP:0001083 Ectopia lentis ORPHANET:3449 ADAMTS10 81794 HP:0001641 Abnormality of the pulmonary valve OMIM:108120 TPM2 7169 HP:0001181 Adducted thumb OMIM:108120 TPM2 7169 HP:0009742 Stiff shoulders OMIM:108120 TPM2 7169 HP:0003184 Decreased hip abduction OMIM:108120 TPM2 7169 HP:0002987 Elbow flexion contracture OMIM:108120 TPM2 7169 HP:0001848 Calcaneovalgus deformity OMIM:108120 TPM2 7169 HP:0000006 Autosomal dominant inheritance OMIM:108120 TPM2 7169 HP:0000954 Single transverse palmar crease OMIM:108120 TPM2 7169 HP:0001193 Ulnar deviation of the hand or of fingers of the hand OMIM:108120 TPM2 7169 HP:0001374 Congenital hip dislocation OMIM:108120 TPM2 7169 HP:0003273 Hip contracture OMIM:108120 TPM2 7169 HP:0002650 Scoliosis OMIM:108120 TPM2 7169 HP:0000028 Cryptorchidism OMIM:108120 TPM2 7169 HP:0002804 Arthrogryposis multiplex congenita OMIM:108120 TPM2 7169 HP:0000211 Trismus OMIM:108120 TPM2 7169 HP:0001838 Rocker bottom foot OMIM:108120 TPM2 7169 HP:0009473 Joint contracture of the hand OMIM:108120 TPM2 7169 HP:0001032 Absent distal interphalangeal creases OMIM:108120 TPM2 7169 HP:0001188 Hand clenching OMIM:108120 TPM2 7169 HP:0006380 Knee flexion contracture OMIM:108120 TPM2 7169 HP:0001762 Talipes equinovarus OMIM:601559 LIFR 3977 HP:0100865 Broad ischia OMIM:601559 LIFR 3977 HP:0000632 Lacrimation abnormality OMIM:601559 LIFR 3977 HP:0002104 Apnea OMIM:601559 LIFR 3977 HP:0002857 Genu valgum OMIM:601559 LIFR 3977 HP:0008872 Feeding difficulties in infancy OMIM:601559 LIFR 3977 HP:0004964 Pulmonary arterial medial hypertrophy OMIM:601559 LIFR 3977 HP:0005089 Abnormal metaphyseal trabeculation OMIM:601559 LIFR 3977 HP:0002987 Elbow flexion contracture OMIM:601559 LIFR 3977 HP:0002007 Frontal bossing OMIM:601559 LIFR 3977 HP:0001511 Intrauterine growth retardation OMIM:601559 LIFR 3977 HP:0002650 Scoliosis OMIM:601559 LIFR 3977 HP:0009465 Ulnar deviation of finger OMIM:601559 LIFR 3977 HP:0007328 Impaired pain sensation OMIM:601559 LIFR 3977 HP:0006844 Absent patellar reflexes OMIM:601559 LIFR 3977 HP:0003401 Paresthesia OMIM:601559 LIFR 3977 HP:0002652 Skeletal dysplasia OMIM:601559 LIFR 3977 HP:0000975 Hyperhidrosis OMIM:601559 LIFR 3977 HP:0002980 Femoral bowing OMIM:601559 LIFR 3977 HP:0011968 Feeding difficulties OMIM:601559 LIFR 3977 HP:0000272 Malar flattening OMIM:601559 LIFR 3977 HP:0000821 Hypothyroidism OMIM:601559 LIFR 3977 HP:0003015 Flared metaphysis OMIM:601559 LIFR 3977 HP:0002015 Dysphagia OMIM:601559 LIFR 3977 HP:0011800 Midface retrusion OMIM:601559 LIFR 3977 HP:0000369 Low-set ears OMIM:601559 LIFR 3977 HP:0001611 Nasal speech OMIM:601559 LIFR 3977 HP:0001562 Oligohydramnios OMIM:601559 LIFR 3977 HP:0000321 Square face OMIM:601559 LIFR 3977 HP:0003196 Short nose OMIM:601559 LIFR 3977 HP:0002982 Tibial bowing OMIM:601559 LIFR 3977 HP:0002099 Asthma OMIM:601559 LIFR 3977 HP:0009803 Short phalanx of finger OMIM:601559 LIFR 3977 HP:0000470 Short neck OMIM:601559 LIFR 3977 HP:0001252 Muscular hypotonia OMIM:601559 LIFR 3977 HP:0001954 Episodic fever OMIM:601559 LIFR 3977 HP:0002089 Pulmonary hypoplasia OMIM:601559 LIFR 3977 HP:0002270 Abnormality of the autonomic nervous system OMIM:601559 LIFR 3977 HP:0001315 Reduced tendon reflexes OMIM:601559 LIFR 3977 HP:0000963 Thin skin OMIM:601559 LIFR 3977 HP:0008824 Hypoplastic iliac body OMIM:601559 LIFR 3977 HP:0002756 Pathologic fracture OMIM:601559 LIFR 3977 HP:0000205 Pursed lips OMIM:601559 LIFR 3977 HP:0012745 Short palpebral fissure OMIM:601559 LIFR 3977 HP:0001836 Camptodactyly of toe OMIM:601559 LIFR 3977 HP:0009185 Contracture of the proximal interphalangeal joint of the 5th finger OMIM:601559 LIFR 3977 HP:0000960 Sacral dimple OMIM:601559 LIFR 3977 HP:0000954 Single transverse palmar crease OMIM:601559 LIFR 3977 HP:0006380 Knee flexion contracture OMIM:601559 LIFR 3977 HP:0000939 Osteoporosis OMIM:601559 LIFR 3977 HP:0000966 Hypohidrosis OMIM:601559 LIFR 3977 HP:0000883 Thin ribs OMIM:601559 LIFR 3977 HP:0002093 Respiratory insufficiency OMIM:601559 LIFR 3977 HP:0012810 Wide nasal base OMIM:601559 LIFR 3977 HP:0002459 Dysautonomia OMIM:601559 LIFR 3977 HP:0004322 Short stature OMIM:601559 LIFR 3977 HP:0002486 Myotonia OMIM:601559 LIFR 3977 HP:0010298 Smooth tongue OMIM:601559 LIFR 3977 HP:0007759 Opacification of the corneal stroma OMIM:601559 LIFR 3977 HP:0001609 Hoarse voice OMIM:601559 LIFR 3977 HP:0007610 Blotching pigmentation of the skin OMIM:601559 LIFR 3977 HP:0001883 Talipes OMIM:601559 LIFR 3977 HP:0001181 Adducted thumb OMIM:601559 LIFR 3977 HP:0000682 Abnormality of dental enamel OMIM:601559 LIFR 3977 HP:0002983 Micromelia OMIM:601559 LIFR 3977 HP:0004980 Metaphyseal rarefaction OMIM:601559 LIFR 3977 HP:0004684 Talipes valgus OMIM:601559 LIFR 3977 HP:0000007 Autosomal recessive inheritance OMIM:601559 LIFR 3977 HP:0000935 Thickened cortex of long bones OMIM:601559 LIFR 3977 HP:0005736 Short tibia OMIM:601559 LIFR 3977 HP:0002092 Pulmonary hypertension OMIM:601559 LIFR 3977 HP:0000347 Micrognathia OMIM:601559 LIFR 3977 HP:0002757 Recurrent fractures OMIM:301040 ATRX 546 HP:0000049 Shawl scrotum OMIM:301040 ATRX 546 HP:0008947 Infantile muscular hypotonia OMIM:301040 ATRX 546 HP:0004209 Clinodactyly of the 5th finger OMIM:301040 ATRX 546 HP:0010472 Abnormality of the heme biosynthetic pathway OMIM:301040 ATRX 546 HP:0002673 Coxa valga OMIM:301040 ATRX 546 HP:0100022 Abnormality of movement OMIM:301040 ATRX 546 HP:0000158 Macroglossia OMIM:301040 ATRX 546 HP:0000463 Anteverted nares OMIM:301040 ATRX 546 HP:0001883 Talipes OMIM:301040 ATRX 546 HP:0003812 Phenotypic variability OMIM:301040 ATRX 546 HP:0000286 Epicanthus OMIM:301040 ATRX 546 HP:0009466 Radial deviation of finger OMIM:301040 ATRX 546 HP:0004840 Hypochromic microcytic anemia OMIM:301040 ATRX 546 HP:0000272 Malar flattening OMIM:301040 ATRX 546 HP:0005280 Depressed nasal bridge OMIM:301040 ATRX 546 HP:0001156 Brachydactyly syndrome OMIM:301040 ATRX 546 HP:0000062 Ambiguous genitalia OMIM:301040 ATRX 546 HP:0001371 Flexion contracture OMIM:301040 ATRX 546 HP:0000316 Hypertelorism OMIM:301040 ATRX 546 HP:0010806 U-Shaped upper lip vermilion OMIM:301040 ATRX 546 HP:0000358 Posteriorly rotated ears OMIM:301040 ATRX 546 HP:0001252 Muscular hypotonia OMIM:301040 ATRX 546 HP:0008897 Postnatal growth retardation OMIM:301040 ATRX 546 HP:0001939 Abnormality of metabolism/homeostasis OMIM:301040 ATRX 546 HP:0011907 Reduced alpha/beta synthesis ratio OMIM:301040 ATRX 546 HP:0002059 Cerebral atrophy OMIM:301040 ATRX 546 HP:0000157 Abnormality of the tongue OMIM:301040 ATRX 546 HP:0002120 Cerebral cortical atrophy OMIM:301040 ATRX 546 HP:0001263 Global developmental delay OMIM:301040 ATRX 546 HP:0002580 Volvulus OMIM:301040 ATRX 546 HP:0000028 Cryptorchidism OMIM:301040 ATRX 546 HP:0000648 Optic atrophy OMIM:301040 ATRX 546 HP:0000179 Thick lower lip vermilion OMIM:301040 ATRX 546 HP:0001376 Limitation of joint mobility OMIM:301040 ATRX 546 HP:0000252 Microcephaly OMIM:301040 ATRX 546 HP:0001566 Widely-spaced maxillary central incisors OMIM:301040 ATRX 546 HP:0000037 Male pseudohermaphroditism OMIM:301040 ATRX 546 HP:0001762 Talipes equinovarus OMIM:301040 ATRX 546 HP:0010808 Protruding tongue OMIM:301040 ATRX 546 HP:0008551 Microtia OMIM:301040 ATRX 546 HP:0000369 Low-set ears OMIM:301040 ATRX 546 HP:0011682 Perimembranous ventricular septal defect OMIM:301040 ATRX 546 HP:0002751 Kyphoscoliosis OMIM:301040 ATRX 546 HP:0003196 Short nose OMIM:301040 ATRX 546 HP:0000047 Hypospadias OMIM:301040 ATRX 546 HP:0000717 Autism OMIM:301040 ATRX 546 HP:0030084 Clinodactyly OMIM:301040 ATRX 546 HP:0001182 Tapered finger OMIM:301040 ATRX 546 HP:0000457 Depressed nasal ridge OMIM:301040 ATRX 546 HP:0001537 Umbilical hernia OMIM:301040 ATRX 546 HP:0000010 Recurrent urinary tract infections OMIM:301040 ATRX 546 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:301040 ATRX 546 HP:0002020 Gastroesophageal reflux OMIM:301040 ATRX 546 HP:0002937 Hemivertebrae OMIM:301040 ATRX 546 HP:0000506 Telecanthus OMIM:301040 ATRX 546 HP:0000126 Hydronephrosis OMIM:301040 ATRX 546 HP:0000505 Visual impairment OMIM:301040 ATRX 546 HP:0100716 Self-injurious behavior OMIM:301040 ATRX 546 HP:0002383 Encephalitis OMIM:301040 ATRX 546 HP:0001423 X-linked dominant inheritance OMIM:301040 ATRX 546 HP:0000104 Renal agenesis OMIM:301040 ATRX 546 HP:0000407 Sensorineural hearing impairment OMIM:301040 ATRX 546 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:301040 ATRX 546 HP:0001250 Seizures OMIM:301040 ATRX 546 HP:0004322 Short stature OMIM:301040 ATRX 546 HP:0002251 Aganglionic megacolon OMIM:301040 ATRX 546 HP:0004374 Hemiplegia/hemiparesis OMIM:301040 ATRX 546 HP:0008736 Hypoplasia of penis OMIM:301040 ATRX 546 HP:0002688 Absent frontal sinuses OMIM:301040 ATRX 546 HP:0002019 Constipation OMIM:301040 ATRX 546 HP:0000054 Micropenis OMIM:301040 ATRX 546 HP:0008872 Feeding difficulties in infancy OMIM:301040 ATRX 546 HP:0001249 Intellectual disability OMIM:301040 ATRX 546 HP:0001257 Spasticity OMIM:301040 ATRX 546 HP:0002167 Neurological speech impairment OMIM:301040 ATRX 546 HP:0002017 Nausea and vomiting OMIM:301040 ATRX 546 HP:0000077 Abnormality of the kidney OMIM:301040 ATRX 546 HP:0000232 Everted lower lip vermilion OMIM:301040 ATRX 546 HP:0000545 Myopia OMIM:301040 ATRX 546 HP:0000164 Abnormality of the teeth OMIM:301040 ATRX 546 HP:0100543 Cognitive impairment OMIM:614196 PTPRO 5800 HP:0005576 Tubulointerstitial fibrosis OMIM:614196 PTPRO 5800 HP:0000007 Autosomal recessive inheritance OMIM:614196 PTPRO 5800 HP:0000969 Edema OMIM:614196 PTPRO 5800 HP:0003073 Hypoalbuminemia OMIM:614196 PTPRO 5800 HP:0003828 Variable expressivity OMIM:614196 PTPRO 5800 HP:0000100 Nephrotic syndrome OMIM:614196 PTPRO 5800 HP:0000093 Proteinuria OMIM:614196 PTPRO 5800 HP:0000097 Focal segmental glomerulosclerosis OMIM:615188 CRYGB 1419 HP:0000519 Congenital cataract OMIM:615188 CRYGB 1419 HP:0000006 Autosomal dominant inheritance OMIM:615947 GPIHBP1 338328 HP:0000660 Lipemia retinalis OMIM:615947 GPIHBP1 338328 HP:0002583 Colitis OMIM:615947 GPIHBP1 338328 HP:0010980 Hyperlipoproteinemia OMIM:615947 GPIHBP1 338328 HP:0001508 Failure to thrive OMIM:614198 SCN4A 6329 HP:0003473 Fatigable weakness OMIM:614198 SCN4A 6329 HP:0000007 Autosomal recessive inheritance OMIM:153400 FOXC2 2303 HP:0009743 Distichiasis OMIM:153400 FOXC2 2303 HP:0200020 Corneal erosion OMIM:153400 FOXC2 2303 HP:0002619 Varicose veins OMIM:153400 FOXC2 2303 HP:0000093 Proteinuria OMIM:153400 FOXC2 2303 HP:0011675 Arrhythmia OMIM:153400 FOXC2 2303 HP:0000819 Diabetes mellitus OMIM:153400 FOXC2 2303 HP:0000509 Conjunctivitis OMIM:153400 FOXC2 2303 HP:0003011 Abnormality of the musculature OMIM:153400 FOXC2 2303 HP:0003550 Predominantly lower limb lymphedema OMIM:153400 FOXC2 2303 HP:0200042 Skin ulcer OMIM:153400 FOXC2 2303 HP:0001629 Ventricular septal defect OMIM:153400 FOXC2 2303 HP:0000075 Renal duplication OMIM:153400 FOXC2 2303 HP:0001643 Patent ductus arteriosus OMIM:153400 FOXC2 2303 HP:0000518 Cataract OMIM:153400 FOXC2 2303 HP:0100820 Glomerulopathy OMIM:153400 FOXC2 2303 HP:0100242 Sarcoma OMIM:153400 FOXC2 2303 HP:0000508 Ptosis OMIM:153400 FOXC2 2303 HP:0000010 Recurrent urinary tract infections OMIM:153400 FOXC2 2303 HP:0100835 Benign neoplasm of the central nervous system OMIM:153400 FOXC2 2303 HP:0000006 Autosomal dominant inheritance OMIM:153400 FOXC2 2303 HP:0000613 Photophobia OMIM:153400 FOXC2 2303 HP:0001004 Lymphedema OMIM:153400 FOXC2 2303 HP:0000495 Recurrent corneal erosions OMIM:153400 FOXC2 2303 HP:0012804 Corneal ulceration OMIM:153400 FOXC2 2303 HP:0000465 Webbed neck OMIM:153400 FOXC2 2303 HP:0000204 Cleft upper lip OMIM:153400 FOXC2 2303 HP:0001636 Tetralogy of Fallot OMIM:153400 FOXC2 2303 HP:0000175 Cleft palate OMIM:153400 FOXC2 2303 HP:0001324 Muscle weakness OMIM:153400 FOXC2 2303 HP:0004930 Abnormality of the pulmonary vasculature ORPHANET:95496 GPR161 23432 HP:0000873 Diabetes insipidus ORPHANET:95496 GPR161 23432 HP:0100543 Cognitive impairment ORPHANET:95496 GPR161 23432 HP:0004322 Short stature ORPHANET:95496 GPR161 23432 HP:0001943 Hypoglycemia ORPHANET:95496 GPR161 23432 HP:0001250 Seizures ORPHANET:95496 GPR161 23432 HP:0100842 Septo-optic dysplasia ORPHANET:95496 GPR161 23432 HP:0008207 Primary adrenal insufficiency ORPHANET:95496 GPR161 23432 HP:0000786 Primary amenorrhea ORPHANET:95496 GPR161 23432 HP:0000821 Hypothyroidism ORPHANET:95496 GPR161 23432 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:95496 GPR161 23432 HP:0008736 Hypoplasia of penis ORPHANET:95496 GPR161 23432 HP:0000028 Cryptorchidism ORPHANET:95496 HESX1 8820 HP:0000873 Diabetes insipidus ORPHANET:95496 HESX1 8820 HP:0100543 Cognitive impairment ORPHANET:95496 HESX1 8820 HP:0004322 Short stature ORPHANET:95496 HESX1 8820 HP:0001943 Hypoglycemia ORPHANET:95496 HESX1 8820 HP:0001250 Seizures ORPHANET:95496 HESX1 8820 HP:0100842 Septo-optic dysplasia ORPHANET:95496 HESX1 8820 HP:0008207 Primary adrenal insufficiency ORPHANET:95496 HESX1 8820 HP:0000786 Primary amenorrhea ORPHANET:95496 HESX1 8820 HP:0000821 Hypothyroidism ORPHANET:95496 HESX1 8820 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:95496 HESX1 8820 HP:0008736 Hypoplasia of penis ORPHANET:95496 HESX1 8820 HP:0000028 Cryptorchidism ORPHANET:95496 LHX4 89884 HP:0000873 Diabetes insipidus ORPHANET:95496 LHX4 89884 HP:0100543 Cognitive impairment ORPHANET:95496 LHX4 89884 HP:0004322 Short stature ORPHANET:95496 LHX4 89884 HP:0001943 Hypoglycemia ORPHANET:95496 LHX4 89884 HP:0001250 Seizures ORPHANET:95496 LHX4 89884 HP:0100842 Septo-optic dysplasia ORPHANET:95496 LHX4 89884 HP:0008207 Primary adrenal insufficiency ORPHANET:95496 LHX4 89884 HP:0000786 Primary amenorrhea ORPHANET:95496 LHX4 89884 HP:0000821 Hypothyroidism ORPHANET:95496 LHX4 89884 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:95496 LHX4 89884 HP:0008736 Hypoplasia of penis ORPHANET:95496 LHX4 89884 HP:0000028 Cryptorchidism OMIM:616192 DNAJC3 5611 HP:0100651 Type I diabetes mellitus OMIM:616192 DNAJC3 5611 HP:0001272 Cerebellar atrophy OMIM:616192 DNAJC3 5611 HP:0003487 Babinski sign OMIM:616192 DNAJC3 5611 HP:0002059 Cerebral atrophy OMIM:616192 DNAJC3 5611 HP:0002066 Gait ataxia OMIM:616192 DNAJC3 5611 HP:0004322 Short stature OMIM:616192 DNAJC3 5611 HP:0000407 Sensorineural hearing impairment OMIM:300831 NSDHL 50814 HP:0000582 Upslanted palpebral fissure OMIM:300831 NSDHL 50814 HP:0001533 Slender build OMIM:300831 NSDHL 50814 HP:0000276 Long face OMIM:300831 NSDHL 50814 HP:0002808 Kyphosis OMIM:300831 NSDHL 50814 HP:0000486 Strabismus OMIM:300831 NSDHL 50814 HP:0001290 Generalized hypotonia OMIM:300831 NSDHL 50814 HP:0003103 Abnormal cortical bone morphology OMIM:300831 NSDHL 50814 HP:0000358 Posteriorly rotated ears OMIM:300831 NSDHL 50814 HP:0001382 Joint hypermobility OMIM:300831 NSDHL 50814 HP:0000426 Prominent nasal bridge OMIM:300831 NSDHL 50814 HP:0002126 Polymicrogyria OMIM:300831 NSDHL 50814 HP:0011297 Abnormality of digit OMIM:300831 NSDHL 50814 HP:0000750 Delayed speech and language development OMIM:300831 NSDHL 50814 HP:0000278 Retrognathia OMIM:300831 NSDHL 50814 HP:0000718 Aggressive behavior OMIM:300831 NSDHL 50814 HP:0001250 Seizures OMIM:300831 NSDHL 50814 HP:0000272 Malar flattening OMIM:300831 NSDHL 50814 HP:0000275 Narrow face OMIM:300831 NSDHL 50814 HP:0003307 Hyperlordosis OMIM:300831 NSDHL 50814 HP:0001302 Pachygyria OMIM:300831 NSDHL 50814 HP:0002360 Sleep disturbance OMIM:300831 NSDHL 50814 HP:0000347 Micrognathia OMIM:300831 NSDHL 50814 HP:0000218 High palate OMIM:300831 NSDHL 50814 HP:0001263 Global developmental delay OMIM:300831 NSDHL 50814 HP:0000286 Epicanthus OMIM:300831 NSDHL 50814 HP:0000737 Irritability OMIM:300831 NSDHL 50814 HP:0007874 Almond-shaped palpebral fissure OMIM:300831 NSDHL 50814 HP:0001249 Intellectual disability OMIM:300831 NSDHL 50814 HP:0000252 Microcephaly OMIM:300831 NSDHL 50814 HP:0000678 Dental crowding OMIM:300831 NSDHL 50814 HP:0001419 X-linked recessive inheritance OMIM:300831 NSDHL 50814 HP:0000752 Hyperactivity OMIM:300831 NSDHL 50814 HP:0002650 Scoliosis OMIM:261650 PCK2 5106 HP:0001397 Hepatic steatosis OMIM:261650 PCK2 5106 HP:0000799 Renal steatosis OMIM:261650 PCK2 5106 HP:0000007 Autosomal recessive inheritance OMIM:261650 PCK2 5106 HP:0001399 Hepatic failure OMIM:261650 PCK2 5106 HP:0005959 Impaired gluconeogenesis OMIM:261650 PCK2 5106 HP:0001943 Hypoglycemia OMIM:614298 C19ORF12 83636 HP:0000750 Delayed speech and language development OMIM:614298 C19ORF12 83636 HP:0000007 Autosomal recessive inheritance OMIM:614298 C19ORF12 83636 HP:0001300 Parkinsonism OMIM:614298 C19ORF12 83636 HP:0003812 Phenotypic variability OMIM:614298 C19ORF12 83636 HP:0003691 Scapular winging OMIM:614298 C19ORF12 83636 HP:0001251 Ataxia OMIM:614298 C19ORF12 83636 HP:0002460 Distal muscle weakness OMIM:614298 C19ORF12 83636 HP:0003487 Babinski sign OMIM:614298 C19ORF12 83636 HP:0000726 Dementia OMIM:614298 C19ORF12 83636 HP:0000529 Progressive visual loss OMIM:614298 C19ORF12 83636 HP:0000712 Emotional lability OMIM:614298 C19ORF12 83636 HP:0100710 Impulsivity OMIM:614298 C19ORF12 83636 HP:0003676 Progressive disorder OMIM:614298 C19ORF12 83636 HP:0012048 Oromandibular dystonia OMIM:614298 C19ORF12 83636 HP:0002180 Neurodegeneration OMIM:614298 C19ORF12 83636 HP:0001263 Global developmental delay OMIM:614298 C19ORF12 83636 HP:0001260 Dysarthria OMIM:614298 C19ORF12 83636 HP:0001761 Pes cavus OMIM:614298 C19ORF12 83636 HP:0002366 Abnormal lower motor neuron morphology OMIM:614298 C19ORF12 83636 HP:0100315 Lewy bodies OMIM:614298 C19ORF12 83636 HP:0001337 Tremor OMIM:614298 C19ORF12 83636 HP:0000648 Optic atrophy OMIM:614298 C19ORF12 83636 HP:0001265 Hyporeflexia OMIM:614298 C19ORF12 83636 HP:0001347 Hyperreflexia OMIM:614298 C19ORF12 83636 HP:0003693 Distal amyotrophy OMIM:614298 C19ORF12 83636 HP:0001257 Spasticity OMIM:614298 C19ORF12 83636 HP:0001288 Gait disturbance OMIM:614298 C19ORF12 83636 HP:0003236 Elevated serum creatine phosphokinase OMIM:610245 PDYN 5173 HP:0000006 Autosomal dominant inheritance OMIM:610245 PDYN 5173 HP:0007305 CNS demyelination OMIM:610245 PDYN 5173 HP:0000514 Slow saccadic eye movements OMIM:610245 PDYN 5173 HP:0002070 Limb ataxia OMIM:610245 PDYN 5173 HP:0003487 Babinski sign OMIM:610245 PDYN 5173 HP:0001347 Hyperreflexia OMIM:610245 PDYN 5173 HP:0001337 Tremor OMIM:610245 PDYN 5173 HP:0001274 Agenesis of corpus callosum OMIM:610245 PDYN 5173 HP:0002529 Neuronal loss in central nervous system OMIM:610245 PDYN 5173 HP:0003677 Slow progression OMIM:610245 PDYN 5173 HP:0001272 Cerebellar atrophy OMIM:610245 PDYN 5173 HP:0002066 Gait ataxia OMIM:610245 PDYN 5173 HP:0002166 Impaired vibration sensation in the lower limbs OMIM:610245 PDYN 5173 HP:0007141 Sensorimotor neuropathy OMIM:610245 PDYN 5173 HP:0001260 Dysarthria OMIM:610245 PDYN 5173 HP:0001310 Dysmetria OMIM:120100 NLRP3 114548 HP:0000989 Pruritus OMIM:120100 NLRP3 114548 HP:0000407 Sensorineural hearing impairment OMIM:120100 NLRP3 114548 HP:0001933 Subcutaneous hemorrhage OMIM:120100 NLRP3 114548 HP:0000975 Hyperhidrosis OMIM:120100 NLRP3 114548 HP:0001944 Dehydration OMIM:120100 NLRP3 114548 HP:0003326 Myalgia OMIM:120100 NLRP3 114548 HP:0002829 Arthralgia OMIM:120100 NLRP3 114548 HP:0003593 Infantile onset OMIM:120100 NLRP3 114548 HP:0001917 Renal amyloidosis OMIM:120100 NLRP3 114548 HP:0001025 Urticaria OMIM:120100 NLRP3 114548 HP:0001369 Arthritis OMIM:120100 NLRP3 114548 HP:0002017 Nausea and vomiting OMIM:120100 NLRP3 114548 HP:0001954 Episodic fever OMIM:120100 NLRP3 114548 HP:0000006 Autosomal dominant inheritance OMIM:120100 NLRP3 114548 HP:0002076 Migraine OMIM:120100 NLRP3 114548 HP:0000509 Conjunctivitis OMIM:120100 NLRP3 114548 HP:0001974 Leukocytosis OMIM:312863 IL2RG 3561 HP:0005407 Decreased number of CD4+ T cells OMIM:312863 IL2RG 3561 HP:0004315 IgG deficiency OMIM:312863 IL2RG 3561 HP:0005415 Decreased number of CD8+ T cells OMIM:312863 IL2RG 3561 HP:0000246 Sinusitis OMIM:312863 IL2RG 3561 HP:0005387 Combined immunodeficiency OMIM:312863 IL2RG 3561 HP:0002090 Pneumonia OMIM:312863 IL2RG 3561 HP:0002837 Recurrent bronchitis OMIM:312863 IL2RG 3561 HP:0001419 X-linked recessive inheritance OMIM:312863 IL2RG 3561 HP:0000388 Otitis media OMIM:614869 CIB2 10518 HP:0003577 Congenital onset OMIM:614869 CIB2 10518 HP:0000510 Retinitis pigmentosa OMIM:614869 CIB2 10518 HP:0001751 Vestibular dysfunction OMIM:614869 CIB2 10518 HP:0001270 Motor delay OMIM:614869 CIB2 10518 HP:0000007 Autosomal recessive inheritance OMIM:256450 ABCC8 6833 HP:0004510 Pancreatic islet-cell hyperplasia OMIM:256450 ABCC8 6833 HP:0001520 Large for gestational age OMIM:256450 ABCC8 6833 HP:0002173 Hypoglycemic seizures OMIM:256450 ABCC8 6833 HP:0001325 Hypoglycemic coma OMIM:256450 ABCC8 6833 HP:0001249 Intellectual disability OMIM:256450 ABCC8 6833 HP:0000825 Hyperinsulinemic hypoglycemia OMIM:256450 ABCC8 6833 HP:0000007 Autosomal recessive inheritance OMIM:256450 ABCC8 6833 HP:0001425 Heterogeneous OMIM:256450 ABCC8 6833 HP:0000006 Autosomal dominant inheritance OMIM:114300 PIEZO2 63895 HP:0000470 Short neck OMIM:114300 PIEZO2 63895 HP:0000508 Ptosis OMIM:114300 PIEZO2 63895 HP:0000954 Single transverse palmar crease OMIM:114300 PIEZO2 63895 HP:0000176 Submucous cleft hard palate OMIM:114300 PIEZO2 63895 HP:0000175 Cleft palate OMIM:114300 PIEZO2 63895 HP:0001374 Congenital hip dislocation OMIM:114300 PIEZO2 63895 HP:0006380 Knee flexion contracture OMIM:114300 PIEZO2 63895 HP:0004209 Clinodactyly of the 5th finger OMIM:114300 PIEZO2 63895 HP:0000324 Facial asymmetry OMIM:114300 PIEZO2 63895 HP:0001845 Overlapping toe OMIM:114300 PIEZO2 63895 HP:0200021 Down-sloping shoulders OMIM:114300 PIEZO2 63895 HP:0002650 Scoliosis OMIM:114300 PIEZO2 63895 HP:0100490 Camptodactyly of finger OMIM:114300 PIEZO2 63895 HP:0002938 Lumbar hyperlordosis OMIM:114300 PIEZO2 63895 HP:0002751 Kyphoscoliosis OMIM:114300 PIEZO2 63895 HP:0000767 Pectus excavatum OMIM:114300 PIEZO2 63895 HP:0000602 Ophthalmoplegia OMIM:114300 PIEZO2 63895 HP:0001547 Abnormality of the rib cage OMIM:114300 PIEZO2 63895 HP:0001762 Talipes equinovarus OMIM:114300 PIEZO2 63895 HP:0009803 Short phalanx of finger OMIM:114300 PIEZO2 63895 HP:0004322 Short stature OMIM:114300 PIEZO2 63895 HP:0001883 Talipes OMIM:114300 PIEZO2 63895 HP:0000028 Cryptorchidism OMIM:114300 PIEZO2 63895 HP:0000218 High palate OMIM:114300 PIEZO2 63895 HP:0002944 Thoracolumbar scoliosis OMIM:114300 PIEZO2 63895 HP:0000006 Autosomal dominant inheritance OMIM:114300 PIEZO2 63895 HP:0005684 Distal arthrogryposis OMIM:114300 PIEZO2 63895 HP:0000193 Bifid uvula OMIM:114300 PIEZO2 63895 HP:0006101 Finger syndactyly OMIM:114300 PIEZO2 63895 HP:0003202 Skeletal muscle atrophy OMIM:114300 PIEZO2 63895 HP:0000347 Micrognathia OMIM:114300 PIEZO2 63895 HP:0001376 Limitation of joint mobility OMIM:114300 PIEZO2 63895 HP:0001193 Ulnar deviation of the hand or of fingers of the hand OMIM:114300 PIEZO2 63895 HP:0001836 Camptodactyly of toe OMIM:114300 PIEZO2 63895 HP:0000365 Hearing impairment OMIM:114300 PIEZO2 63895 HP:0003184 Decreased hip abduction OMIM:114300 PIEZO2 63895 HP:0010554 Cutaneous finger syndactyly OMIM:114300 PIEZO2 63895 HP:0000286 Epicanthus OMIM:114300 PIEZO2 63895 HP:0002804 Arthrogryposis multiplex congenita ORPHANET:300878 IGHV4-34 28395 HP:0001744 Splenomegaly ORPHANET:300878 IGHV4-34 28395 HP:0001909 Leukemia ORPHANET:300878 IGHV4-34 28395 HP:0002093 Respiratory insufficiency ORPHANET:300878 IGHV4-34 28395 HP:0002633 Vasculitis ORPHANET:300878 IGHV4-34 28395 HP:0100526 Neoplasm of the lung ORPHANET:300878 IGHV4-34 28395 HP:0100827 Lymphocytosis ORPHANET:300878 IGHV4-34 28395 HP:0002910 Elevated hepatic transaminases ORPHANET:300878 IGHV4-34 28395 HP:0001034 Hypermelanotic macule ORPHANET:300878 IGHV4-34 28395 HP:0002716 Lymphadenopathy ORPHANET:300878 IGHV4-34 28395 HP:0001878 Hemolytic anemia ORPHANET:300878 IGHV4-34 28395 HP:0000988 Skin rash ORPHANET:300878 IGHV4-34 28395 HP:0001635 Congestive heart failure ORPHANET:300878 IGHV4-34 28395 HP:0002027 Abdominal pain ORPHANET:300878 IGHV4-34 28395 HP:0004311 Abnormality of macrophages ORPHANET:300878 IGHV4-34 28395 HP:0001928 Abnormality of coagulation ORPHANET:300878 IGHV4-34 28395 HP:0100787 Prostate neoplasm ORPHANET:300878 IGHV4-34 28395 HP:0005528 Bone marrow hypocellularity ORPHANET:300878 IGHV4-34 28395 HP:0000083 Renal insufficiency ORPHANET:300878 IGHV4-34 28395 HP:0010978 Abnormality of immune system physiology OMIM:609887 WDR36 134430 HP:0012108 Primary open angle glaucoma OMIM:612518 DNAAF2 55172 HP:0001696 Situs inversus totalis OMIM:612518 DNAAF2 55172 HP:0011109 Chronic sinusitis OMIM:612518 DNAAF2 55172 HP:0005938 Abnormal respiratory motile cilium morphology OMIM:612518 DNAAF2 55172 HP:0012265 Ciliary dyskinesia OMIM:612518 DNAAF2 55172 HP:0011108 Recurrent sinusitis OMIM:612518 DNAAF2 55172 HP:0000389 Chronic otitis media OMIM:612518 DNAAF2 55172 HP:0000007 Autosomal recessive inheritance OMIM:606324 PARK7 11315 HP:0002067 Bradykinesia OMIM:606324 PARK7 11315 HP:0002174 Postural tremor OMIM:606324 PARK7 11315 HP:0003677 Slow progression OMIM:606324 PARK7 11315 HP:0000739 Anxiety OMIM:606324 PARK7 11315 HP:0003581 Adult onset OMIM:606324 PARK7 11315 HP:0000725 Psychotic episodes OMIM:606324 PARK7 11315 HP:0002063 Rigidity OMIM:606324 PARK7 11315 HP:0000643 Blepharospasm OMIM:606324 PARK7 11315 HP:0000007 Autosomal recessive inheritance OMIM:606324 PARK7 11315 HP:0002322 Resting tremor OMIM:606438 JPH3 57338 HP:0002067 Bradykinesia OMIM:606438 JPH3 57338 HP:0000006 Autosomal dominant inheritance OMIM:606438 JPH3 57338 HP:0000739 Anxiety OMIM:606438 JPH3 57338 HP:0002345 Action tremor OMIM:606438 JPH3 57338 HP:0001332 Dystonia OMIM:606438 JPH3 57338 HP:0000716 Depression OMIM:606438 JPH3 57338 HP:0000726 Dementia OMIM:606438 JPH3 57338 HP:0001260 Dysarthria OMIM:606438 JPH3 57338 HP:0001824 Weight loss OMIM:606438 JPH3 57338 HP:0001347 Hyperreflexia OMIM:606438 JPH3 57338 HP:0000746 Delusions OMIM:606438 JPH3 57338 HP:0002072 Chorea OMIM:606438 JPH3 57338 HP:0000741 Apathy OMIM:606438 JPH3 57338 HP:0000738 Hallucinations OMIM:606438 JPH3 57338 HP:0002063 Rigidity OMIM:606438 JPH3 57338 HP:0000737 Irritability OMIM:311360 FMR1 2332 HP:0000858 Menstrual irregularities OMIM:311360 FMR1 2332 HP:0001417 X-linked inheritance OMIM:311360 FMR1 2332 HP:0008209 Premature ovarian failure OMIM:311360 FMR1 2332 HP:0000837 Increased circulating gonadotropin level OMIM:311360 FMR1 2332 HP:0001939 Abnormality of metabolism/homeostasis OMIM:608266 CDC73 79577 HP:0003072 Hypercalcemia OMIM:608266 CDC73 79577 HP:0001428 Somatic mutation OMIM:608266 CDC73 79577 HP:0006780 Parathyroid carcinoma OMIM:608266 CDC73 79577 HP:0000843 Hyperparathyroidism OMIM:608266 CDC73 79577 HP:0000006 Autosomal dominant inheritance OMIM:614180 CLRN1 7401 HP:0007737 Bony spicule pigmentary retinopathy OMIM:614180 CLRN1 7401 HP:0000007 Autosomal recessive inheritance OMIM:614180 CLRN1 7401 HP:0007843 Attenuation of retinal blood vessels OMIM:614180 CLRN1 7401 HP:0000662 Night blindness OMIM:614180 CLRN1 7401 HP:0000510 Retinitis pigmentosa OMIM:614180 CLRN1 7401 HP:0000505 Visual impairment OMIM:614180 CLRN1 7401 HP:0007688 Absent rod-and cone-mediated responses on ERG OMIM:610896 SIX5 147912 HP:0000006 Autosomal dominant inheritance OMIM:610896 SIX5 147912 HP:0000365 Hearing impairment OMIM:610896 SIX5 147912 HP:0011332 Hemifacial hypoplasia OMIM:610896 SIX5 147912 HP:0000110 Renal dysplasia OMIM:610896 SIX5 147912 HP:0000083 Renal insufficiency OMIM:610896 SIX5 147912 HP:0000384 Preauricular skin tag ORPHANET:316 LOR 4014 HP:0000982 Palmoplantar keratoderma OMIM:615981 BBS2 583 HP:0001647 Bicuspid aortic valve OMIM:615981 BBS2 583 HP:0001644 Dilated cardiomyopathy OMIM:615981 BBS2 583 HP:0000510 Retinitis pigmentosa OMIM:615981 BBS2 583 HP:0001249 Intellectual disability OMIM:615981 BBS2 583 HP:0001162 Postaxial hand polydactyly OMIM:615981 BBS2 583 HP:0000546 Retinal degeneration OMIM:615981 BBS2 583 HP:0003241 External genital hypoplasia OMIM:615981 BBS2 583 HP:0001263 Global developmental delay OMIM:615981 BBS2 583 HP:0000135 Hypogonadism OMIM:615981 BBS2 583 HP:0001631 Defect in the atrial septum OMIM:615981 BBS2 583 HP:0001513 Obesity OMIM:127300 SHOX 6473 HP:0002984 Hypoplasia of the radius OMIM:127300 SHOX 6473 HP:0004322 Short stature OMIM:127300 SHOX 6473 HP:0000112 Nephropathy OMIM:127300 SHOX 6473 HP:0003067 Madelung deformity OMIM:127300 SHOX 6473 HP:0000006 Autosomal dominant inheritance OMIM:127300 SHOX 6473 HP:0005736 Short tibia OMIM:127300 SHOX 6473 HP:0002829 Arthralgia OMIM:127300 SHOX 6473 HP:0001831 Short toe OMIM:127300 SHOX 6473 HP:0002823 Abnormality of the femur OMIM:127300 SHOX 6473 HP:0002758 Osteoarthritis OMIM:127300 SHOX 6473 HP:0006248 Limited wrist movement OMIM:127300 SHOX 6473 HP:0002992 Abnormality of the tibia OMIM:127300 SHOX 6473 HP:0001798 Anonychia OMIM:127300 SHOX 6473 HP:0006459 Dorsal subluxation of ulna OMIM:127300 SHOX 6473 HP:0001191 Abnormality of the carpal bones OMIM:127300 SHOX 6473 HP:0003063 Abnormality of the humerus OMIM:127300 SHOX 6473 HP:0100777 Exostoses OMIM:127300 SHOX 6473 HP:0008873 Disproportionate short-limb short stature OMIM:127300 SHOX 6473 HP:0002762 Multiple exostoses OMIM:127300 SHOX 6473 HP:0003038 Fibular hypoplasia OMIM:127300 SHOX 6473 HP:0002997 Abnormality of the ulna OMIM:127300 SHOX 6473 HP:0006443 Patellar aplasia OMIM:127300 SHOX 6473 HP:0000944 Abnormality of the metaphyses OMIM:127300 SHOX 6473 HP:0002650 Scoliosis OMIM:127300 SHOX 6473 HP:0002983 Micromelia OMIM:127300 SHOX 6473 HP:0003272 Abnormality of the hip bone OMIM:127300 SHOX 6473 HP:0001163 Abnormality of the metacarpal bones OMIM:127300 SHOX 6473 HP:0002857 Genu valgum OMIM:127300 SHOX 6473 HP:0001156 Brachydactyly syndrome OMIM:127300 SHOX 6473 HP:0003102 Increased carrying angle OMIM:127300 SHOX 6473 HP:0010624 Aplastic/hypoplastic toenail OMIM:127300 SHOX 6473 HP:0010579 Cone-shaped epiphysis OMIM:127300 SHOX 6473 HP:0003712 Skeletal muscle hypertrophy OMIM:127300 SHOX 6473 HP:0002673 Coxa valga OMIM:127300 SHOX 6473 HP:0002653 Bone pain OMIM:127300 SHOX 6473 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:127300 SHOX 6473 HP:0002970 Genu varum OMIM:127300 SHOX 6473 HP:0001832 Abnormality of the metatarsal bones OMIM:127300 SHOX 6473 HP:0003022 Hypoplasia of the ulna OMIM:127300 SHOX 6473 HP:0004209 Clinodactyly of the 5th finger OMIM:127300 SHOX 6473 HP:0001376 Limitation of joint mobility OMIM:127300 SHOX 6473 HP:0005280 Depressed nasal bridge OMIM:127300 SHOX 6473 HP:0002648 Abnormality of calvarial morphology OMIM:127300 SHOX 6473 HP:0002996 Limited elbow movement OMIM:127300 SHOX 6473 HP:0100745 Abnormality of the humeroulnar joint OMIM:127300 SHOX 6473 HP:0003042 Elbow dislocation OMIM:127300 SHOX 6473 HP:0010044 Short 4th metacarpal OMIM:127300 SHOX 6473 HP:0002986 Radial bowing OMIM:127300 SHOX 6473 HP:0003027 Mesomelia OMIM:127300 SHOX 6473 HP:0000218 High palate OMIM:127300 SHOX 6473 HP:0002982 Tibial bowing ORPHANET:321 EXT2 2132 HP:0002857 Genu valgum ORPHANET:321 EXT2 2132 HP:0000944 Abnormality of the metaphyses ORPHANET:321 EXT2 2132 HP:0002758 Osteoarthritis ORPHANET:321 EXT2 2132 HP:0002983 Micromelia ORPHANET:321 EXT2 2132 HP:0001697 Abnormality of the pericardium ORPHANET:321 EXT2 2132 HP:0004322 Short stature ORPHANET:321 EXT2 2132 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:321 EXT2 2132 HP:0010885 Aseptic necrosis ORPHANET:321 EXT2 2132 HP:0000164 Abnormality of the teeth ORPHANET:321 EXT2 2132 HP:0002617 Aneurysm ORPHANET:321 EXT2 2132 HP:0002997 Abnormality of the ulna ORPHANET:321 EXT2 2132 HP:0100240 Synostosis of joints ORPHANET:321 EXT2 2132 HP:0000463 Anteverted nares ORPHANET:321 EXT2 2132 HP:0002992 Abnormality of the tibia ORPHANET:321 EXT2 2132 HP:0003063 Abnormality of the humerus ORPHANET:321 EXT2 2132 HP:0002797 Osteolysis ORPHANET:321 EXT2 2132 HP:0006824 Cranial nerve paralysis ORPHANET:321 EXT2 2132 HP:0003067 Madelung deformity ORPHANET:321 EXT2 2132 HP:0002757 Recurrent fractures ORPHANET:321 EXT2 2132 HP:0100777 Exostoses ORPHANET:321 EXT2 2132 HP:0007256 Abnormal pyramidal signs ORPHANET:321 EXT2 2132 HP:0002650 Scoliosis ORPHANET:321 EXT2 2132 HP:0002644 Abnormality of pelvic girdle bone morphology ORPHANET:321 EXT2 2132 HP:0001324 Muscle weakness ORPHANET:321 EXT2 2132 HP:0002823 Abnormality of the femur ORPHANET:321 EXT2 2132 HP:0003042 Elbow dislocation ORPHANET:321 EXT2 2132 HP:0002653 Bone pain ORPHANET:321 EXT2 2132 HP:0000934 Chondrocalcinosis ORPHANET:321 EXT2 2132 HP:0004374 Hemiplegia/hemiparesis ORPHANET:321 EXT1 2131 HP:0002857 Genu valgum ORPHANET:321 EXT1 2131 HP:0000944 Abnormality of the metaphyses ORPHANET:321 EXT1 2131 HP:0002758 Osteoarthritis ORPHANET:321 EXT1 2131 HP:0002983 Micromelia ORPHANET:321 EXT1 2131 HP:0001697 Abnormality of the pericardium ORPHANET:321 EXT1 2131 HP:0004322 Short stature ORPHANET:321 EXT1 2131 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:321 EXT1 2131 HP:0010885 Aseptic necrosis ORPHANET:321 EXT1 2131 HP:0000164 Abnormality of the teeth ORPHANET:321 EXT1 2131 HP:0002617 Aneurysm ORPHANET:321 EXT1 2131 HP:0002997 Abnormality of the ulna ORPHANET:321 EXT1 2131 HP:0100240 Synostosis of joints ORPHANET:321 EXT1 2131 HP:0000463 Anteverted nares ORPHANET:321 EXT1 2131 HP:0002992 Abnormality of the tibia ORPHANET:321 EXT1 2131 HP:0003063 Abnormality of the humerus ORPHANET:321 EXT1 2131 HP:0002797 Osteolysis ORPHANET:321 EXT1 2131 HP:0006824 Cranial nerve paralysis ORPHANET:321 EXT1 2131 HP:0003067 Madelung deformity ORPHANET:321 EXT1 2131 HP:0002757 Recurrent fractures ORPHANET:321 EXT1 2131 HP:0100777 Exostoses ORPHANET:321 EXT1 2131 HP:0007256 Abnormal pyramidal signs ORPHANET:321 EXT1 2131 HP:0002650 Scoliosis ORPHANET:321 EXT1 2131 HP:0002644 Abnormality of pelvic girdle bone morphology ORPHANET:321 EXT1 2131 HP:0001324 Muscle weakness ORPHANET:321 EXT1 2131 HP:0002823 Abnormality of the femur ORPHANET:321 EXT1 2131 HP:0003042 Elbow dislocation ORPHANET:321 EXT1 2131 HP:0002653 Bone pain ORPHANET:321 EXT1 2131 HP:0000934 Chondrocalcinosis ORPHANET:321 EXT1 2131 HP:0004374 Hemiplegia/hemiparesis OMIM:143200 VCAN 1462 HP:0000648 Optic atrophy OMIM:143200 VCAN 1462 HP:0007722 Loss of retinal pigment epithelium OMIM:143200 VCAN 1462 HP:0007643 Peripheral traction retinal detachment OMIM:143200 VCAN 1462 HP:0000545 Myopia OMIM:143200 VCAN 1462 HP:0000518 Cataract OMIM:143200 VCAN 1462 HP:0000655 Vitreoretinal degeneration OMIM:143200 VCAN 1462 HP:0000501 Glaucoma OMIM:143200 VCAN 1462 HP:0001123 Visual field defect OMIM:143200 VCAN 1462 HP:0000572 Visual loss OMIM:143200 VCAN 1462 HP:0000533 Chorioretinal atrophy OMIM:143200 VCAN 1462 HP:0000006 Autosomal dominant inheritance OMIM:115197 MYBPC3 4607 HP:0001639 Hypertrophic cardiomyopathy OMIM:115197 MYBPC3 4607 HP:0000006 Autosomal dominant inheritance OMIM:605899 AMT 275 HP:0001522 Death in infancy OMIM:605899 AMT 275 HP:0001249 Intellectual disability OMIM:605899 AMT 275 HP:0100247 Recurrent singultus OMIM:605899 AMT 275 HP:0000007 Autosomal recessive inheritance OMIM:605899 AMT 275 HP:0100710 Impulsivity OMIM:605899 AMT 275 HP:0001254 Lethargy OMIM:605899 AMT 275 HP:0000711 Restlessness OMIM:605899 AMT 275 HP:0002154 Hyperglycinemia OMIM:605899 AMT 275 HP:0003108 Hyperglycinuria OMIM:605899 AMT 275 HP:0001336 Myoclonus OMIM:605899 AMT 275 HP:0000718 Aggressive behavior OMIM:605899 AMT 275 HP:0000737 Irritability OMIM:605899 AMT 275 HP:0001250 Seizures OMIM:605899 AMT 275 HP:0001347 Hyperreflexia OMIM:605899 AMT 275 HP:0001252 Muscular hypotonia OMIM:605899 AMT 275 HP:0001274 Agenesis of corpus callosum OMIM:605899 AMT 275 HP:0000752 Hyperactivity OMIM:605899 AMT 275 HP:0001298 Encephalopathy OMIM:605899 GLDC 2731 HP:0001522 Death in infancy OMIM:605899 GLDC 2731 HP:0001249 Intellectual disability OMIM:605899 GLDC 2731 HP:0100247 Recurrent singultus OMIM:605899 GLDC 2731 HP:0000007 Autosomal recessive inheritance OMIM:605899 GLDC 2731 HP:0100710 Impulsivity OMIM:605899 GLDC 2731 HP:0001254 Lethargy OMIM:605899 GLDC 2731 HP:0000711 Restlessness OMIM:605899 GLDC 2731 HP:0002154 Hyperglycinemia OMIM:605899 GLDC 2731 HP:0003108 Hyperglycinuria OMIM:605899 GLDC 2731 HP:0001336 Myoclonus OMIM:605899 GLDC 2731 HP:0000718 Aggressive behavior OMIM:605899 GLDC 2731 HP:0000737 Irritability OMIM:605899 GLDC 2731 HP:0001250 Seizures OMIM:605899 GLDC 2731 HP:0001347 Hyperreflexia OMIM:605899 GLDC 2731 HP:0001252 Muscular hypotonia OMIM:605899 GLDC 2731 HP:0001274 Agenesis of corpus callosum OMIM:605899 GLDC 2731 HP:0000752 Hyperactivity OMIM:605899 GLDC 2731 HP:0001298 Encephalopathy OMIM:605899 GCSH 2653 HP:0001522 Death in infancy OMIM:605899 GCSH 2653 HP:0001249 Intellectual disability OMIM:605899 GCSH 2653 HP:0100247 Recurrent singultus OMIM:605899 GCSH 2653 HP:0000007 Autosomal recessive inheritance OMIM:605899 GCSH 2653 HP:0100710 Impulsivity OMIM:605899 GCSH 2653 HP:0001254 Lethargy OMIM:605899 GCSH 2653 HP:0000711 Restlessness OMIM:605899 GCSH 2653 HP:0002154 Hyperglycinemia OMIM:605899 GCSH 2653 HP:0003108 Hyperglycinuria OMIM:605899 GCSH 2653 HP:0001336 Myoclonus OMIM:605899 GCSH 2653 HP:0000718 Aggressive behavior OMIM:605899 GCSH 2653 HP:0000737 Irritability OMIM:605899 GCSH 2653 HP:0001250 Seizures OMIM:605899 GCSH 2653 HP:0001347 Hyperreflexia OMIM:605899 GCSH 2653 HP:0001252 Muscular hypotonia OMIM:605899 GCSH 2653 HP:0001274 Agenesis of corpus callosum OMIM:605899 GCSH 2653 HP:0000752 Hyperactivity OMIM:605899 GCSH 2653 HP:0001298 Encephalopathy ORPHANET:99798 PAX9 5083 HP:0000691 Microdontia ORPHANET:99798 PAX9 5083 HP:0009804 Reduced number of teeth ORPHANET:99798 PAX9 5083 HP:0000347 Micrognathia ORPHANET:99798 EDA 1896 HP:0000691 Microdontia ORPHANET:99798 EDA 1896 HP:0009804 Reduced number of teeth ORPHANET:99798 EDA 1896 HP:0000347 Micrognathia ORPHANET:99798 LTBP3 4054 HP:0000691 Microdontia ORPHANET:99798 LTBP3 4054 HP:0009804 Reduced number of teeth ORPHANET:99798 LTBP3 4054 HP:0000347 Micrognathia ORPHANET:99798 FGFR1 2260 HP:0000691 Microdontia ORPHANET:99798 FGFR1 2260 HP:0009804 Reduced number of teeth ORPHANET:99798 FGFR1 2260 HP:0000347 Micrognathia ORPHANET:99798 IRF6 3664 HP:0000691 Microdontia ORPHANET:99798 IRF6 3664 HP:0009804 Reduced number of teeth ORPHANET:99798 IRF6 3664 HP:0000347 Micrognathia ORPHANET:99798 WNT10A 80326 HP:0000691 Microdontia ORPHANET:99798 WNT10A 80326 HP:0009804 Reduced number of teeth ORPHANET:99798 WNT10A 80326 HP:0000347 Micrognathia ORPHANET:99798 AXIN2 8313 HP:0000691 Microdontia ORPHANET:99798 AXIN2 8313 HP:0009804 Reduced number of teeth ORPHANET:99798 AXIN2 8313 HP:0000347 Micrognathia ORPHANET:99798 MSX1 4487 HP:0000691 Microdontia ORPHANET:99798 MSX1 4487 HP:0009804 Reduced number of teeth ORPHANET:99798 MSX1 4487 HP:0000347 Micrognathia ORPHANET:99798 EDARADD 128178 HP:0000691 Microdontia ORPHANET:99798 EDARADD 128178 HP:0009804 Reduced number of teeth ORPHANET:99798 EDARADD 128178 HP:0000347 Micrognathia ORPHANET:99798 TGFA 7039 HP:0000691 Microdontia ORPHANET:99798 TGFA 7039 HP:0009804 Reduced number of teeth ORPHANET:99798 TGFA 7039 HP:0000347 Micrognathia OMIM:612124 CSRP3 8048 HP:0004757 Paroxysmal atrial fibrillation OMIM:612124 CSRP3 8048 HP:0001638 Cardiomyopathy OMIM:612124 CSRP3 8048 HP:0004756 Ventricular tachycardia OMIM:612124 CSRP3 8048 HP:0001645 Sudden cardiac death OMIM:612124 CSRP3 8048 HP:0000006 Autosomal dominant inheritance OMIM:613312 ENPP1 5167 HP:0000007 Autosomal recessive inheritance OMIM:613312 ENPP1 5167 HP:0004912 Hypophosphatemic rickets OMIM:601072 TMPRSS3 64699 HP:0011463 Childhood onset OMIM:601072 TMPRSS3 64699 HP:0000007 Autosomal recessive inheritance OMIM:601072 TMPRSS3 64699 HP:0000407 Sensorineural hearing impairment OMIM:614135 COL9A1 1297 HP:0011463 Childhood onset OMIM:614135 COL9A1 1297 HP:0002815 Abnormality of the knees OMIM:614135 COL9A1 1297 HP:0002654 Multiple epiphyseal dysplasia OMIM:614135 COL9A1 1297 HP:0010585 Small epiphyses OMIM:614135 COL9A1 1297 HP:0030041 Schmorl's node OMIM:614135 COL9A1 1297 HP:0003370 Flat capital femoral epiphysis OMIM:614135 COL9A1 1297 HP:0003301 Irregular vertebral endplates OMIM:614135 COL9A1 1297 HP:0003365 Arthralgia of the hip OMIM:614135 COL9A1 1297 HP:0006398 Flat distal femoral epiphysis OMIM:614135 COL9A1 1297 HP:0002758 Osteoarthritis OMIM:614135 COL9A1 1297 HP:0000006 Autosomal dominant inheritance OMIM:614135 COL9A1 1297 HP:0006407 Irregular distal femoral epiphysis OMIM:614135 COL9A1 1297 HP:0002829 Arthralgia OMIM:614135 COL9A1 1297 HP:0010582 Irregular epiphyses OMIM:300895 MED12 9968 HP:0000347 Micrognathia OMIM:300895 MED12 9968 HP:0000414 Bulbous nose OMIM:300895 MED12 9968 HP:0001382 Joint hypermobility OMIM:300895 MED12 9968 HP:0001419 X-linked recessive inheritance OMIM:300895 MED12 9968 HP:0000280 Coarse facial features OMIM:300895 MED12 9968 HP:0000319 Smooth philtrum OMIM:300895 MED12 9968 HP:0001249 Intellectual disability OMIM:300895 MED12 9968 HP:0000160 Narrow mouth OMIM:300895 MED12 9968 HP:0005280 Depressed nasal bridge OMIM:300895 MED12 9968 HP:0000448 Prominent nose OMIM:300895 MED12 9968 HP:0000431 Wide nasal bridge OMIM:300895 MED12 9968 HP:0001263 Global developmental delay OMIM:300895 MED12 9968 HP:0000028 Cryptorchidism OMIM:300895 MED12 9968 HP:0030084 Clinodactyly OMIM:300895 MED12 9968 HP:0000365 Hearing impairment OMIM:300895 MED12 9968 HP:0000343 Long philtrum OMIM:300895 MED12 9968 HP:0000508 Ptosis OMIM:300895 MED12 9968 HP:0011968 Feeding difficulties OMIM:300895 MED12 9968 HP:0000957 Cafe-au-lait spot OMIM:300895 MED12 9968 HP:0000046 Scrotal hypoplasia OMIM:300895 MED12 9968 HP:0000233 Thin vermilion border OMIM:300895 MED12 9968 HP:0004325 Decreased body weight OMIM:300895 MED12 9968 HP:0000581 Blepharophimosis OMIM:252500 GNPTAB 79158 HP:0001498 Carpal bone hypoplasia OMIM:252500 GNPTAB 79158 HP:0100679 Lack of skin elasticity OMIM:252500 GNPTAB 79158 HP:0002240 Hepatomegaly OMIM:252500 GNPTAB 79158 HP:0003311 Hypoplasia of the odontoid process OMIM:252500 GNPTAB 79158 HP:0001639 Hypertrophic cardiomyopathy OMIM:252500 GNPTAB 79158 HP:0007759 Opacification of the corneal stroma OMIM:252500 GNPTAB 79158 HP:0001547 Abnormality of the rib cage OMIM:252500 GNPTAB 79158 HP:0000882 Hypoplastic scapulae OMIM:252500 GNPTAB 79158 HP:0004322 Short stature OMIM:252500 GNPTAB 79158 HP:0003264 Deficiency of N-acetylglucosamine-1-phosphotransferase OMIM:252500 GNPTAB 79158 HP:0001609 Hoarse voice OMIM:252500 GNPTAB 79158 HP:0001048 Cavernous hemangioma OMIM:252500 GNPTAB 79158 HP:0000535 Sparse eyebrow OMIM:252500 GNPTAB 79158 HP:0002756 Pathologic fracture OMIM:252500 GNPTAB 79158 HP:0200020 Corneal erosion OMIM:252500 GNPTAB 79158 HP:0000007 Autosomal recessive inheritance OMIM:252500 GNPTAB 79158 HP:0001654 Abnormality of the heart valves OMIM:252500 GNPTAB 79158 HP:0001635 Congestive heart failure OMIM:252500 GNPTAB 79158 HP:0003414 Atlantoaxial dislocation OMIM:252500 GNPTAB 79158 HP:0000963 Thin skin OMIM:252500 GNPTAB 79158 HP:0000765 Abnormality of the thorax OMIM:252500 GNPTAB 79158 HP:0000343 Long philtrum OMIM:252500 GNPTAB 79158 HP:0100790 Hernia OMIM:252500 GNPTAB 79158 HP:0002808 Kyphosis OMIM:252500 GNPTAB 79158 HP:0003026 Short long bone OMIM:252500 GNPTAB 79158 HP:0000463 Anteverted nares OMIM:252500 GNPTAB 79158 HP:0003180 Flat acetabular roof OMIM:252500 GNPTAB 79158 HP:0003538 Increased serum iduronate sulfatase activity OMIM:252500 GNPTAB 79158 HP:0001640 Cardiomegaly OMIM:252500 GNPTAB 79158 HP:0001744 Splenomegaly OMIM:252500 GNPTAB 79158 HP:0002690 Large sella turcica OMIM:252500 GNPTAB 79158 HP:0003819 Death in childhood OMIM:252500 GNPTAB 79158 HP:0008155 Mucopolysacchariduria OMIM:252500 GNPTAB 79158 HP:0000286 Epicanthus OMIM:252500 GNPTAB 79158 HP:0001319 Neonatal hypotonia OMIM:252500 GNPTAB 79158 HP:0008470 Lower thoracic interpediculate narrowness OMIM:252500 GNPTAB 79158 HP:0005280 Depressed nasal bridge OMIM:252500 GNPTAB 79158 HP:0000348 High forehead OMIM:252500 GNPTAB 79158 HP:0000158 Macroglossia OMIM:252500 GNPTAB 79158 HP:0000341 Narrow forehead OMIM:252500 GNPTAB 79158 HP:0001659 Aortic regurgitation OMIM:252500 GNPTAB 79158 HP:0003016 Metaphyseal widening OMIM:252500 GNPTAB 79158 HP:0000403 Recurrent otitis media OMIM:252500 GNPTAB 79158 HP:0002205 Recurrent respiratory infections OMIM:252500 GNPTAB 79158 HP:0001171 Split hand OMIM:252500 GNPTAB 79158 HP:0001824 Weight loss OMIM:252500 GNPTAB 79158 HP:0000280 Coarse facial features OMIM:252500 GNPTAB 79158 HP:0004562 Beaking of vertebral bodies T12-L3 OMIM:252500 GNPTAB 79158 HP:0011344 Severe global developmental delay OMIM:252500 GNPTAB 79158 HP:0001131 Corneal dystrophy OMIM:252500 GNPTAB 79158 HP:0002196 Myelopathy OMIM:252500 GNPTAB 79158 HP:0006610 Wide intermamillary distance OMIM:252500 GNPTAB 79158 HP:0003300 Ovoid vertebral bodies OMIM:252500 GNPTAB 79158 HP:0003423 Thoracolumbar kyphoscoliosis OMIM:252500 GNPTAB 79158 HP:0100540 Palpebral edema OMIM:252500 GNPTAB 79158 HP:0001508 Failure to thrive OMIM:252500 GNPTAB 79158 HP:0009769 Bullet-shaped phalanges of the hand OMIM:252500 GNPTAB 79158 HP:0000938 Osteopenia OMIM:252500 GNPTAB 79158 HP:0001540 Diastasis recti OMIM:252500 GNPTAB 79158 HP:0000998 Hypertrichosis OMIM:252500 GNPTAB 79158 HP:0000023 Inguinal hernia OMIM:252500 GNPTAB 79158 HP:0030148 Heart murmur OMIM:252500 GNPTAB 79158 HP:0002827 Hip dislocation OMIM:252500 GNPTAB 79158 HP:0001762 Talipes equinovarus OMIM:252500 GNPTAB 79158 HP:0009092 Progressive alveolar ridge hypertropy OMIM:252500 GNPTAB 79158 HP:0002837 Recurrent bronchitis OMIM:252500 GNPTAB 79158 HP:0002684 Thickened calvaria OMIM:252500 GNPTAB 79158 HP:0008850 Severe postnatal growth retardation OMIM:252500 GNPTAB 79158 HP:0003019 Abnormality of the wrist OMIM:252500 GNPTAB 79158 HP:0003333 Increased serum beta-hexosaminidase OMIM:252500 GNPTAB 79158 HP:0002011 Morphological abnormality of the central nervous system OMIM:252500 GNPTAB 79158 HP:0000187 Broad alveolar ridges OMIM:252500 GNPTAB 79158 HP:0100543 Cognitive impairment OMIM:252500 GNPTAB 79158 HP:0006362 Varus deformity of humeral neck OMIM:252500 GNPTAB 79158 HP:0001537 Umbilical hernia OMIM:252500 GNPTAB 79158 HP:0001538 Protuberant abdomen OMIM:252500 GNPTAB 79158 HP:0000485 Megalocornea OMIM:252500 GNPTAB 79158 HP:0002869 Flared iliac wings OMIM:252500 GNPTAB 79158 HP:0006532 Recurrent pneumonia OMIM:146255 GATA3 2625 HP:0000708 Behavioral abnormality OMIM:146255 GATA3 2625 HP:0001250 Seizures OMIM:146255 GATA3 2625 HP:0000407 Sensorineural hearing impairment OMIM:146255 GATA3 2625 HP:0000003 Multicystic kidney dysplasia OMIM:146255 GATA3 2625 HP:0008678 Renal hypoplasia/aplasia OMIM:146255 GATA3 2625 HP:0001371 Flexion contracture OMIM:146255 GATA3 2625 HP:0000006 Autosomal dominant inheritance OMIM:146255 GATA3 2625 HP:0002901 Hypocalcemia OMIM:146255 GATA3 2625 HP:0000639 Nystagmus OMIM:146255 GATA3 2625 HP:0002021 Pyloric stenosis OMIM:146255 GATA3 2625 HP:0000508 Ptosis OMIM:146255 GATA3 2625 HP:0001153 Septate vagina OMIM:146255 GATA3 2625 HP:0000100 Nephrotic syndrome OMIM:146255 GATA3 2625 HP:0007703 Abnormal retinal pigmentation OMIM:146255 GATA3 2625 HP:0012622 Chronic kidney disease OMIM:146255 GATA3 2625 HP:0000076 Vesicoureteral reflux OMIM:146255 GATA3 2625 HP:0001629 Ventricular septal defect OMIM:146255 GATA3 2625 HP:0000829 Hypoparathyroidism OMIM:146255 GATA3 2625 HP:0004722 Thickening of the glomerular basement membrane OMIM:146255 GATA3 2625 HP:0100542 Abnormal localization of kidney OMIM:146255 GATA3 2625 HP:0000790 Hematuria OMIM:146255 GATA3 2625 HP:0003765 Psoriasis OMIM:146255 GATA3 2625 HP:0000110 Renal dysplasia OMIM:146255 GATA3 2625 HP:0000093 Proteinuria OMIM:146255 GATA3 2625 HP:0003762 Uterus didelphys OMIM:607326 DYM 54808 HP:0003274 Hypoplastic acetabulae OMIM:607326 DYM 54808 HP:0008829 Delayed femoral head ossification OMIM:607326 DYM 54808 HP:0010049 Short metacarpal OMIM:607326 DYM 54808 HP:0000007 Autosomal recessive inheritance OMIM:607326 DYM 54808 HP:0002808 Kyphosis OMIM:607326 DYM 54808 HP:0000884 Prominent sternum OMIM:607326 DYM 54808 HP:0000882 Hypoplastic scapulae OMIM:607326 DYM 54808 HP:0004568 Beaking of vertebral bodies OMIM:607326 DYM 54808 HP:0003521 Disproportionate short-trunk short stature OMIM:607326 DYM 54808 HP:0003467 Atlantoaxial instability OMIM:607326 DYM 54808 HP:0008835 Multicentric femoral head ossification OMIM:607326 DYM 54808 HP:0000926 Platyspondyly OMIM:607326 DYM 54808 HP:0002515 Waddling gait OMIM:607326 DYM 54808 HP:0002692 Hypoplastic facial bones OMIM:607326 DYM 54808 HP:0003311 Hypoplasia of the odontoid process OMIM:607326 DYM 54808 HP:0010582 Irregular epiphyses OMIM:607326 DYM 54808 HP:0002650 Scoliosis OMIM:607326 DYM 54808 HP:0000268 Dolichocephaly OMIM:607326 DYM 54808 HP:0003025 Metaphyseal irregularity OMIM:607326 DYM 54808 HP:0002857 Genu valgum OMIM:607326 DYM 54808 HP:0001552 Barrel-shaped chest OMIM:607326 DYM 54808 HP:0002681 Deformed sella turcica OMIM:607326 DYM 54808 HP:0002970 Genu varum OMIM:607326 DYM 54808 HP:0009803 Short phalanx of finger OMIM:607326 DYM 54808 HP:0000252 Microcephaly OMIM:613740 TMPO 7112 HP:0001644 Dilated cardiomyopathy OMIM:613740 TMPO 7112 HP:0000006 Autosomal dominant inheritance OMIM:613740 TMPO 7112 HP:0006673 Reduced systolic function OMIM:177820 GP1BA 2811 HP:0000006 Autosomal dominant inheritance OMIM:177820 GP1BA 2811 HP:0004854 Intermittent thrombocytopenia OMIM:177820 GP1BA 2811 HP:0003010 Prolonged bleeding time OMIM:142945 SHH 6469 HP:0012806 Proboscis OMIM:142945 SHH 6469 HP:0000272 Malar flattening OMIM:142945 SHH 6469 HP:0009914 Cyclopia OMIM:142945 SHH 6469 HP:0000366 Abnormality of the nose OMIM:142945 SHH 6469 HP:0000126 Hydronephrosis OMIM:142945 SHH 6469 HP:0003829 Incomplete penetrance OMIM:142945 SHH 6469 HP:0011800 Midface retrusion OMIM:142945 SHH 6469 HP:0001360 Holoprosencephaly OMIM:142945 SHH 6469 HP:0000006 Autosomal dominant inheritance OMIM:142945 SHH 6469 HP:0000601 Hypotelorism OMIM:208250 PRG4 10216 HP:0001239 Wrist flexion contracture OMIM:208250 PRG4 10216 HP:0003040 Arthropathy OMIM:208250 PRG4 10216 HP:0005186 Synovial hypertrophy OMIM:208250 PRG4 10216 HP:0011909 Flattened metacarpal heads OMIM:208250 PRG4 10216 HP:0005879 Congenital finger flexion contractures OMIM:208250 PRG4 10216 HP:0005197 Generalized morning stiffness OMIM:208250 PRG4 10216 HP:0002563 Constrictive pericarditis OMIM:208250 PRG4 10216 HP:0002812 Coxa vara OMIM:208250 PRG4 10216 HP:0005194 Flattened metatarsal heads OMIM:208250 PRG4 10216 HP:0001369 Arthritis OMIM:208250 PRG4 10216 HP:0000007 Autosomal recessive inheritance OMIM:300934 SSR4 6748 HP:0030084 Clinodactyly OMIM:300934 SSR4 6748 HP:0001252 Muscular hypotonia OMIM:300934 SSR4 6748 HP:0000047 Hypospadias OMIM:300934 SSR4 6748 HP:0001250 Seizures OMIM:300934 SSR4 6748 HP:0000347 Micrognathia OMIM:300934 SSR4 6748 HP:0000252 Microcephaly OMIM:300934 SSR4 6748 HP:0001263 Global developmental delay OMIM:300934 SSR4 6748 HP:0003642 Type I transferrin isoform profile OMIM:212550 SIX6 4990 HP:0000567 Chorioretinal coloboma OMIM:212550 SIX6 4990 HP:0000007 Autosomal recessive inheritance OMIM:212550 SIX6 4990 HP:0000616 Miosis OMIM:212550 SIX6 4990 HP:0000612 Iris coloboma OMIM:212550 SIX6 4990 HP:0000666 Horizontal nystagmus OMIM:212550 SIX6 4990 HP:0000568 Microphthalmos OMIM:212550 SIX6 4990 HP:0000501 Glaucoma OMIM:212550 SIX6 4990 HP:0000541 Retinal detachment OMIM:212550 SIX6 4990 HP:0000518 Cataract OMIM:212550 SIX6 4990 HP:0000556 Retinal dystrophy OMIM:616294 SEC24D 9871 HP:0011800 Midface retrusion OMIM:616294 SEC24D 9871 HP:0000238 Hydrocephalus OMIM:616294 SEC24D 9871 HP:0004322 Short stature OMIM:616294 SEC24D 9871 HP:0004440 Coronal craniosynostosis OMIM:616294 SEC24D 9871 HP:0000592 Blue sclerae OMIM:616294 SEC24D 9871 HP:0004443 Lambdoidal craniosynostosis OMIM:616294 SEC24D 9871 HP:0000926 Platyspondyly OMIM:616294 SEC24D 9871 HP:0001620 High pitched voice OMIM:616294 SEC24D 9871 HP:0000308 Microretrognathia OMIM:616294 SEC24D 9871 HP:0000494 Downslanted palpebral fissures OMIM:616294 SEC24D 9871 HP:0000520 Proptosis OMIM:616294 SEC24D 9871 HP:0000218 High palate OMIM:616294 SEC24D 9871 HP:0002007 Frontal bossing OMIM:616294 SEC24D 9871 HP:0000325 Triangular face OMIM:616294 SEC24D 9871 HP:0000938 Osteopenia OMIM:616294 SEC24D 9871 HP:0001562 Oligohydramnios OMIM:616294 SEC24D 9871 HP:0000883 Thin ribs OMIM:616294 SEC24D 9871 HP:0000256 Macrocephaly OMIM:616294 SEC24D 9871 HP:0000316 Hypertelorism OMIM:616294 SEC24D 9871 HP:0008897 Postnatal growth retardation OMIM:616294 SEC24D 9871 HP:0000767 Pectus excavatum OMIM:610498 MRPS16 51021 HP:0001999 Abnormal facial shape OMIM:610498 MRPS16 51021 HP:0000007 Autosomal recessive inheritance OMIM:610498 MRPS16 51021 HP:0001518 Small for gestational age OMIM:610498 MRPS16 51021 HP:0002151 Increased serum lactate OMIM:610498 MRPS16 51021 HP:0005989 Redundant neck skin OMIM:610498 MRPS16 51021 HP:0001643 Patent ductus arteriosus OMIM:610498 MRPS16 51021 HP:0001156 Brachydactyly syndrome OMIM:610498 MRPS16 51021 HP:0001254 Lethargy OMIM:610498 MRPS16 51021 HP:0001319 Neonatal hypotonia OMIM:610498 MRPS16 51021 HP:0002119 Ventriculomegaly OMIM:610498 MRPS16 51021 HP:0003128 Lactic acidosis OMIM:610498 MRPS16 51021 HP:0002910 Elevated hepatic transaminases OMIM:610498 MRPS16 51021 HP:0001274 Agenesis of corpus callosum OMIM:610498 MRPS16 51021 HP:0000969 Edema OMIM:610498 MRPS16 51021 HP:0000369 Low-set ears OMIM:610498 MRPS16 51021 HP:0008872 Feeding difficulties in infancy OMIM:610498 MRPS16 51021 HP:0003577 Congenital onset OMIM:610498 MRPS16 51021 HP:0002375 Hypokinesia OMIM:614779 CFAP53 220136 HP:0000007 Autosomal recessive inheritance OMIM:614779 CFAP53 220136 HP:0001669 Transposition of the great arteries OMIM:614779 CFAP53 220136 HP:0003828 Variable expressivity OMIM:614779 CFAP53 220136 HP:0003363 Abdominal situs inversus OMIM:607155 FKRP 79147 HP:0001771 Achilles tendon contracture OMIM:607155 FKRP 79147 HP:0008981 Calf muscle hypertrophy OMIM:607155 FKRP 79147 HP:0002948 Vertebral fusion OMIM:607155 FKRP 79147 HP:0002877 Nocturnal hypoventilation OMIM:607155 FKRP 79147 HP:0003741 Congenital muscular dystrophy OMIM:607155 FKRP 79147 HP:0002515 Waddling gait OMIM:607155 FKRP 79147 HP:0002359 Frequent falls OMIM:607155 FKRP 79147 HP:0002111 Restrictive respiratory insufficiency OMIM:607155 FKRP 79147 HP:0000158 Macroglossia OMIM:607155 FKRP 79147 HP:0003236 Elevated serum creatine phosphokinase OMIM:607155 FKRP 79147 HP:0003307 Hyperlordosis OMIM:607155 FKRP 79147 HP:0003701 Proximal muscle weakness OMIM:607155 FKRP 79147 HP:0002808 Kyphosis OMIM:607155 FKRP 79147 HP:0001644 Dilated cardiomyopathy OMIM:607155 FKRP 79147 HP:0002650 Scoliosis OMIM:607155 FKRP 79147 HP:0005162 Impaired left ventricular function OMIM:607155 FKRP 79147 HP:0003733 Thigh hypertrophy OMIM:607155 FKRP 79147 HP:0003394 Muscle cramps OMIM:607155 FKRP 79147 HP:0003828 Variable expressivity OMIM:607155 FKRP 79147 HP:0002355 Difficulty walking OMIM:607155 FKRP 79147 HP:0000007 Autosomal recessive inheritance OMIM:607155 FKRP 79147 HP:0003749 Pelvic girdle muscle weakness OMIM:607155 FKRP 79147 HP:0003547 Shoulder girdle muscle weakness OMIM:607155 FKRP 79147 HP:0040083 Toe walking OMIM:607155 FKRP 79147 HP:0003326 Myalgia OMIM:607155 FKRP 79147 HP:0008305 Exercise-induced myoglobinuria OMIM:607155 FKRP 79147 HP:0003551 Difficulty climbing stairs OMIM:609304 SLC25A22 79751 HP:0001319 Neonatal hypotonia OMIM:609304 SLC25A22 79751 HP:0200134 Epileptic encephalopathy OMIM:609304 SLC25A22 79751 HP:0003819 Death in childhood OMIM:609304 SLC25A22 79751 HP:0001257 Spasticity OMIM:609304 SLC25A22 79751 HP:0012448 Delayed myelination OMIM:609304 SLC25A22 79751 HP:0002059 Cerebral atrophy OMIM:609304 SLC25A22 79751 HP:0000649 Abnormality of vision evoked potentials OMIM:609304 SLC25A22 79751 HP:0000007 Autosomal recessive inheritance OMIM:609304 SLC25A22 79751 HP:0002123 Generalized myoclonic seizures OMIM:609304 SLC25A22 79751 HP:0000253 Progressive microcephaly OMIM:186770 TLX1 3195 HP:0001939 Abnormality of metabolism/homeostasis OMIM:186770 TLX1 3195 HP:0000006 Autosomal dominant inheritance OMIM:186770 TLX1 3195 HP:0006727 T-cell acute lymphoblastic leukemias OMIM:613180 TUBA8 51807 HP:0002365 Hypoplasia of the brainstem OMIM:613180 TUBA8 51807 HP:0000252 Microcephaly OMIM:613180 TUBA8 51807 HP:0003577 Congenital onset OMIM:613180 TUBA8 51807 HP:0002187 Intellectual disability, profound OMIM:613180 TUBA8 51807 HP:0000609 Optic nerve hypoplasia OMIM:613180 TUBA8 51807 HP:0000007 Autosomal recessive inheritance OMIM:613180 TUBA8 51807 HP:0030048 Colpocephaly OMIM:613180 TUBA8 51807 HP:0001250 Seizures OMIM:613180 TUBA8 51807 HP:0002126 Polymicrogyria OMIM:613180 TUBA8 51807 HP:0001265 Hyporeflexia OMIM:613180 TUBA8 51807 HP:0001263 Global developmental delay OMIM:613180 TUBA8 51807 HP:0001319 Neonatal hypotonia OMIM:147100 IGHG1 3500 HP:0000006 Autosomal dominant inheritance OMIM:612240 KCNA5 3741 HP:0000006 Autosomal dominant inheritance OMIM:612240 KCNA5 3741 HP:0001962 Palpitations OMIM:612240 KCNA5 3741 HP:0012248 Prolonged PR interval OMIM:612240 KCNA5 3741 HP:0005184 Prolonged QTc interval OMIM:612240 KCNA5 3741 HP:0004757 Paroxysmal atrial fibrillation OMIM:262700 LHX4 89884 HP:0000006 Autosomal dominant inheritance OMIM:262700 LHX4 89884 HP:0008850 Severe postnatal growth retardation OMIM:262700 LHX4 89884 HP:0003799 Marked delay in bone age OMIM:262700 LHX4 89884 HP:0000846 Adrenal insufficiency OMIM:262700 LHX4 89884 HP:0001943 Hypoglycemia OMIM:262700 LHX4 89884 HP:0000821 Hypothyroidism OMIM:262700 LHX4 89884 HP:0010538 Small sella turcica OMIM:262700 LHX4 89884 HP:0000839 Pituitary dwarfism OMIM:262700 LHX4 89884 HP:0000007 Autosomal recessive inheritance OMIM:609823 TRIOBP 11078 HP:0008625 Severe sensorineural hearing impairment OMIM:609823 TRIOBP 11078 HP:0003593 Infantile onset OMIM:609823 TRIOBP 11078 HP:0000007 Autosomal recessive inheritance OMIM:107970 TGFB3 7043 HP:0004414 Abnormality of the pulmonary artery OMIM:107970 TGFB3 7043 HP:0011663 Right ventricular cardiomyopathy OMIM:107970 TGFB3 7043 HP:0001425 Heterogeneous OMIM:107970 TGFB3 7043 HP:0001645 Sudden cardiac death OMIM:107970 TGFB3 7043 HP:0000006 Autosomal dominant inheritance OMIM:107970 TGFB3 7043 HP:0004308 Ventricular arrhythmia OMIM:107970 TGFB3 7043 HP:0004306 Abnormality of the endocardium OMIM:430000 IL3RA 3563 HP:0001871 Abnormality of blood and blood-forming tissues OMIM:604308 FBN1 2200 HP:0000006 Autosomal dominant inheritance OMIM:604308 FBN1 2200 HP:0001724 Aortic dilatation OMIM:604308 FBN1 2200 HP:0001065 Striae distensae OMIM:604308 FBN1 2200 HP:0000766 Abnormality of the sternum OMIM:604308 FBN1 2200 HP:0001634 Mitral valve prolapse OMIM:604308 FBN1 2200 HP:0001519 Disproportionate tall stature OMIM:607398 MRAP 56246 HP:0008163 Decreased circulating cortisol level OMIM:607398 MRAP 56246 HP:0000007 Autosomal recessive inheritance OMIM:607398 MRAP 56246 HP:0001988 Recurrent hypoglycemia OMIM:607398 MRAP 56246 HP:0003154 Increased circulating ACTH level OMIM:607398 MRAP 56246 HP:0000953 Hyperpigmentation of the skin OMIM:616394 IFT172 26160 HP:0000543 Optic disc pallor OMIM:616394 IFT172 26160 HP:0007843 Attenuation of retinal blood vessels ORPHANET:93274 FGFR3 2261 HP:0001376 Limitation of joint mobility ORPHANET:93274 FGFR3 2261 HP:0002269 Abnormality of neuronal migration ORPHANET:93274 FGFR3 2261 HP:0002676 Cloverleaf skull ORPHANET:93274 FGFR3 2261 HP:0000238 Hydrocephalus ORPHANET:93274 FGFR3 2261 HP:0006703 Aplasia/Hypoplasia of the lungs ORPHANET:93274 FGFR3 2261 HP:0001643 Patent ductus arteriosus ORPHANET:93274 FGFR3 2261 HP:0001156 Brachydactyly syndrome ORPHANET:93274 FGFR3 2261 HP:0002119 Ventriculomegaly ORPHANET:93274 FGFR3 2261 HP:0100543 Cognitive impairment ORPHANET:93274 FGFR3 2261 HP:0000774 Narrow chest ORPHANET:93274 FGFR3 2261 HP:0000077 Abnormality of the kidney ORPHANET:93274 FGFR3 2261 HP:0000926 Platyspondyly ORPHANET:93274 FGFR3 2261 HP:0001250 Seizures ORPHANET:93274 FGFR3 2261 HP:0000272 Malar flattening ORPHANET:93274 FGFR3 2261 HP:0002084 Encephalocele ORPHANET:93274 FGFR3 2261 HP:0000973 Cutis laxa ORPHANET:93274 FGFR3 2261 HP:0000256 Macrocephaly ORPHANET:93274 FGFR3 2261 HP:0001360 Holoprosencephaly ORPHANET:93274 FGFR3 2261 HP:0001631 Defect in the atrial septum ORPHANET:93274 FGFR3 2261 HP:0002007 Frontal bossing ORPHANET:93274 FGFR3 2261 HP:0000956 Acanthosis nigricans ORPHANET:93274 FGFR3 2261 HP:0001252 Muscular hypotonia ORPHANET:93274 FGFR3 2261 HP:0000944 Abnormality of the metaphyses ORPHANET:93274 FGFR3 2261 HP:0002652 Skeletal dysplasia ORPHANET:93274 FGFR3 2261 HP:0001561 Polyhydramnios ORPHANET:93274 FGFR3 2261 HP:0009826 Limb undergrowth ORPHANET:93274 FGFR3 2261 HP:0010880 Increased nuchal translucency ORPHANET:93274 FGFR3 2261 HP:0000520 Proptosis ORPHANET:93274 FGFR3 2261 HP:0004322 Short stature ORPHANET:93274 FGFR3 2261 HP:0002808 Kyphosis ORPHANET:93274 FGFR3 2261 HP:0000365 Hearing impairment ORPHANET:93274 FGFR3 2261 HP:0005280 Depressed nasal bridge ORPHANET:93274 FGFR3 2261 HP:0010306 Short thorax ORPHANET:93274 FGFR3 2261 HP:0002093 Respiratory insufficiency OMIM:111700 RHCE 6006 HP:0004870 Chronic hemolytic anemia OMIM:111700 RHCE 6006 HP:0000007 Autosomal recessive inheritance OMIM:111700 RHCE 6006 HP:0004446 Stomatocytosis ORPHANET:140 SOX9 6662 HP:0000347 Micrognathia ORPHANET:140 SOX9 6662 HP:0002093 Respiratory insufficiency ORPHANET:140 SOX9 6662 HP:0010935 Abnormality of the upper urinary tract ORPHANET:140 SOX9 6662 HP:0002991 Abnormality of the fibula ORPHANET:140 SOX9 6662 HP:0000037 Male pseudohermaphroditism ORPHANET:140 SOX9 6662 HP:0000272 Malar flattening ORPHANET:140 SOX9 6662 HP:0100569 Abnormal vertebral ossification ORPHANET:140 SOX9 6662 HP:0000256 Macrocephaly ORPHANET:140 SOX9 6662 HP:0004348 Abnormality of bone mineral density ORPHANET:140 SOX9 6662 HP:0002564 Malformation of the heart and great vessels ORPHANET:140 SOX9 6662 HP:0002119 Ventriculomegaly ORPHANET:140 SOX9 6662 HP:0000912 Sprengel anomaly ORPHANET:140 SOX9 6662 HP:0001883 Talipes ORPHANET:140 SOX9 6662 HP:0003272 Abnormality of the hip bone ORPHANET:140 SOX9 6662 HP:0000365 Hearing impairment ORPHANET:140 SOX9 6662 HP:0005280 Depressed nasal bridge ORPHANET:140 SOX9 6662 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:140 SOX9 6662 HP:0004322 Short stature ORPHANET:140 SOX9 6662 HP:0002808 Kyphosis ORPHANET:140 SOX9 6662 HP:0002823 Abnormality of the femur ORPHANET:140 SOX9 6662 HP:0002757 Recurrent fractures ORPHANET:140 SOX9 6662 HP:0002992 Abnormality of the tibia ORPHANET:140 SOX9 6662 HP:0000316 Hypertelorism ORPHANET:140 SOX9 6662 HP:0006487 Bowing of the long bones ORPHANET:140 SOX9 6662 HP:0004408 Abnormality of the sense of smell ORPHANET:140 SOX9 6662 HP:0000772 Abnormality of the ribs ORPHANET:140 SOX9 6662 HP:0000175 Cleft palate ORPHANET:140 SOX9 6662 HP:0002650 Scoliosis ORPHANET:140 SOX9 6662 HP:0000774 Narrow chest ORPHANET:140 SOX9 6662 HP:0010767 Sacrococcygeal pilonidal abnormality ORPHANET:140 SOX9 6662 HP:0000062 Ambiguous genitalia ORPHANET:140 SOX9 6662 HP:0000520 Proptosis ORPHANET:140 SOX9 6662 HP:0001601 Laryngomalacia ORPHANET:140 SOX9 6662 HP:0000470 Short neck ORPHANET:140 SOX9 6662 HP:0002779 Tracheomalacia OMIM:275400 PNPLA6 10908 HP:0000762 Decreased nerve conduction velocity OMIM:275400 PNPLA6 10908 HP:0100543 Cognitive impairment OMIM:275400 PNPLA6 10908 HP:0002213 Fine hair OMIM:275400 PNPLA6 10908 HP:0000639 Nystagmus OMIM:275400 PNPLA6 10908 HP:0000078 Abnormality of the genital system OMIM:275400 PNPLA6 10908 HP:0000007 Autosomal recessive inheritance OMIM:275400 PNPLA6 10908 HP:0002007 Frontal bossing OMIM:275400 PNPLA6 10908 HP:0003693 Distal amyotrophy OMIM:275400 PNPLA6 10908 HP:0000499 Abnormality of the eyelashes OMIM:275400 PNPLA6 10908 HP:0002460 Distal muscle weakness OMIM:275400 PNPLA6 10908 HP:0007703 Abnormal retinal pigmentation OMIM:275400 PNPLA6 10908 HP:0008736 Hypoplasia of penis OMIM:275400 PNPLA6 10908 HP:0000664 Synophrys OMIM:275400 PNPLA6 10908 HP:0001518 Small for gestational age OMIM:275400 PNPLA6 10908 HP:0003510 Severe short stature OMIM:275400 PNPLA6 10908 HP:0000684 Delayed eruption of teeth OMIM:275400 PNPLA6 10908 HP:0001511 Intrauterine growth retardation OMIM:275400 PNPLA6 10908 HP:0000574 Thick eyebrow OMIM:275400 PNPLA6 10908 HP:0001956 Truncal obesity OMIM:275400 PNPLA6 10908 HP:0000044 Hypogonadotrophic hypogonadism OMIM:275400 PNPLA6 10908 HP:0002750 Delayed skeletal maturation OMIM:275400 PNPLA6 10908 HP:0000505 Visual impairment OMIM:275400 PNPLA6 10908 HP:0000824 Growth hormone deficiency OMIM:275400 PNPLA6 10908 HP:0001249 Intellectual disability OMIM:275400 PNPLA6 10908 HP:0000028 Cryptorchidism OMIM:275400 PNPLA6 10908 HP:0007818 Central heterochromia OMIM:275400 PNPLA6 10908 HP:0003477 Peripheral axonal neuropathy OMIM:275400 PNPLA6 10908 HP:0001146 Pigmentary retinal degeneration OMIM:275400 PNPLA6 10908 HP:0001100 Heterochromia iridis OMIM:275400 PNPLA6 10908 HP:0000269 Prominent occiput OMIM:275400 PNPLA6 10908 HP:0004523 Long eyebrows OMIM:275400 PNPLA6 10908 HP:0000527 Long eyelashes OMIM:275400 PNPLA6 10908 HP:0000830 Anterior hypopituitarism OMIM:275400 PNPLA6 10908 HP:0000823 Delayed puberty OMIM:225300 WNT10B 7480 HP:0001180 Oligodactyly (hands) OMIM:225300 WNT10B 7480 HP:0000007 Autosomal recessive inheritance OMIM:225300 WNT10B 7480 HP:0003829 Incomplete penetrance OMIM:225300 WNT10B 7480 HP:0001849 Oligodactyly (feet) OMIM:225300 WNT10B 7480 HP:0006101 Finger syndactyly OMIM:225300 WNT10B 7480 HP:0001770 Toe syndactyly OMIM:225300 WNT10B 7480 HP:0001839 Split foot OMIM:225300 WNT10B 7480 HP:0001171 Split hand OMIM:613101 STXBP2 6813 HP:0012177 Abnormal natural killer cell physiology OMIM:613101 STXBP2 6813 HP:0002155 Hypertriglyceridemia OMIM:613101 STXBP2 6813 HP:0000007 Autosomal recessive inheritance OMIM:613101 STXBP2 6813 HP:0012156 Hemophagocytosis OMIM:613101 STXBP2 6813 HP:0001954 Episodic fever OMIM:613101 STXBP2 6813 HP:0003281 Increased serum ferritin OMIM:613101 STXBP2 6813 HP:0001433 Hepatosplenomegaly OMIM:266120 NT5C3A 51251 HP:0003641 Hemoglobinuria OMIM:266120 NT5C3A 51251 HP:0001878 Hemolytic anemia OMIM:266120 NT5C3A 51251 HP:0000007 Autosomal recessive inheritance OMIM:612656 SLC1A3 6507 HP:0002078 Truncal ataxia OMIM:612656 SLC1A3 6507 HP:0002131 Episodic ataxia OMIM:612656 SLC1A3 6507 HP:0001269 Hemiparesis OMIM:612656 SLC1A3 6507 HP:0001350 Slurred speech OMIM:612656 SLC1A3 6507 HP:0002076 Migraine OMIM:612656 SLC1A3 6507 HP:0002301 Hemiplegia OMIM:612656 SLC1A3 6507 HP:0001250 Seizures OMIM:259500 RB1 5925 HP:0009919 Retinoblastoma OMIM:259500 RB1 5925 HP:0002669 Osteosarcoma OMIM:259500 RB1 5925 HP:0001939 Abnormality of metabolism/homeostasis OMIM:259500 CHEK2 11200 HP:0009919 Retinoblastoma OMIM:259500 CHEK2 11200 HP:0002669 Osteosarcoma OMIM:259500 CHEK2 11200 HP:0001939 Abnormality of metabolism/homeostasis OMIM:259500 TP53 7157 HP:0009919 Retinoblastoma OMIM:259500 TP53 7157 HP:0002669 Osteosarcoma OMIM:259500 TP53 7157 HP:0001939 Abnormality of metabolism/homeostasis OMIM:152950 KIF11 3832 HP:0000286 Epicanthus OMIM:152950 KIF11 3832 HP:0001631 Defect in the atrial septum OMIM:152950 KIF11 3832 HP:0100643 Abnormality of nail color OMIM:152950 KIF11 3832 HP:0000582 Upslanted palpebral fissure OMIM:152950 KIF11 3832 HP:0100658 Cellulitis OMIM:152950 KIF11 3832 HP:0000179 Thick lower lip vermilion OMIM:152950 KIF11 3832 HP:0000648 Optic atrophy OMIM:152950 KIF11 3832 HP:0001256 Intellectual disability, mild OMIM:152950 KIF11 3832 HP:0000293 Full cheeks OMIM:152950 KIF11 3832 HP:0100543 Cognitive impairment OMIM:152950 KIF11 3832 HP:0005469 Flat occiput OMIM:152950 KIF11 3832 HP:0000455 Broad nasal tip OMIM:152950 KIF11 3832 HP:0002002 Deep philtrum OMIM:152950 KIF11 3832 HP:0004377 Hematological neoplasm OMIM:152950 KIF11 3832 HP:0001004 Lymphedema OMIM:152950 KIF11 3832 HP:0000411 Protruding ear OMIM:152950 KIF11 3832 HP:0000541 Retinal detachment OMIM:152950 KIF11 3832 HP:0000545 Myopia OMIM:152950 KIF11 3832 HP:0100758 Gangrene OMIM:152950 KIF11 3832 HP:0001072 Thickened skin OMIM:152950 KIF11 3832 HP:0011220 Prominent forehead OMIM:152950 KIF11 3832 HP:0008388 Abnormality of the toenails OMIM:152950 KIF11 3832 HP:0005280 Depressed nasal bridge OMIM:152950 KIF11 3832 HP:0000252 Microcephaly OMIM:152950 KIF11 3832 HP:0001250 Seizures OMIM:152950 KIF11 3832 HP:0007703 Abnormal retinal pigmentation OMIM:152950 KIF11 3832 HP:0001055 Erysipelas OMIM:152950 KIF11 3832 HP:0004322 Short stature OMIM:152950 KIF11 3832 HP:0000343 Long philtrum OMIM:152950 KIF11 3832 HP:0000518 Cataract OMIM:152950 KIF11 3832 HP:0000958 Dry skin OMIM:152950 KIF11 3832 HP:0001145 Chorioretinopathy OMIM:152950 KIF11 3832 HP:0000488 Retinopathy OMIM:152950 KIF11 3832 HP:0000463 Anteverted nares OMIM:152950 KIF11 3832 HP:0200042 Skin ulcer OMIM:152950 KIF11 3832 HP:0000377 Abnormality of the pinna OMIM:152950 KIF11 3832 HP:0001252 Muscular hypotonia OMIM:152950 KIF11 3832 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:152950 KIF11 3832 HP:0000505 Visual impairment OMIM:152950 KIF11 3832 HP:0000494 Downslanted palpebral fissures OMIM:152950 KIF11 3832 HP:0004418 Thrombophlebitis OMIM:152950 KIF11 3832 HP:0009891 Underdeveloped supraorbital ridges OMIM:152950 KIF11 3832 HP:0001276 Hypertonia OMIM:152950 KIF11 3832 HP:0007786 Lacunar retinal depigmentation OMIM:152950 KIF11 3832 HP:0000340 Sloping forehead OMIM:152950 KIF11 3832 HP:0000501 Glaucoma OMIM:152950 KIF11 3832 HP:0000006 Autosomal dominant inheritance OMIM:152950 KIF11 3832 HP:0000303 Mandibular prognathia OMIM:152950 KIF11 3832 HP:0007731 Chorioretinal dysplasia OMIM:152950 KIF11 3832 HP:0000219 Thin upper lip vermilion OMIM:152950 KIF11 3832 HP:0000508 Ptosis OMIM:152950 KIF11 3832 HP:0000307 Pointed chin OMIM:152950 KIF11 3832 HP:0002103 Abnormality of the pleura OMIM:612666 DSTYK 25778 HP:0000076 Vesicoureteral reflux OMIM:612666 DSTYK 25778 HP:0000006 Autosomal dominant inheritance OMIM:612666 DSTYK 25778 HP:0000089 Renal hypoplasia OMIM:612666 DSTYK 25778 HP:0000074 Ureteropelvic junction obstruction ORPHANET:2311 HES7 84667 HP:0002650 Scoliosis ORPHANET:2311 HES7 84667 HP:0000470 Short neck ORPHANET:2311 HES7 84667 HP:0001537 Umbilical hernia ORPHANET:2311 HES7 84667 HP:0000256 Macrocephaly ORPHANET:2311 HES7 84667 HP:0100543 Cognitive impairment ORPHANET:2311 HES7 84667 HP:0000463 Anteverted nares ORPHANET:2311 HES7 84667 HP:0000772 Abnormality of the ribs ORPHANET:2311 HES7 84667 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2311 HES7 84667 HP:0003298 Spina bifida occulta ORPHANET:2311 HES7 84667 HP:0010306 Short thorax ORPHANET:2311 HES7 84667 HP:0004322 Short stature ORPHANET:2311 HES7 84667 HP:0002564 Malformation of the heart and great vessels ORPHANET:2311 HES7 84667 HP:0000269 Prominent occiput ORPHANET:2311 HES7 84667 HP:0100627 Displacement of the external urethral meatus ORPHANET:2311 HES7 84667 HP:0010772 Anomalous pulmonary venous return ORPHANET:2311 HES7 84667 HP:0005280 Depressed nasal bridge ORPHANET:2311 HES7 84667 HP:0000252 Microcephaly ORPHANET:2311 HES7 84667 HP:0010978 Abnormality of immune system physiology ORPHANET:2311 HES7 84667 HP:0001511 Intrauterine growth retardation ORPHANET:2311 HES7 84667 HP:0100490 Camptodactyly of finger ORPHANET:2311 HES7 84667 HP:0000343 Long philtrum ORPHANET:2311 HES7 84667 HP:0000175 Cleft palate ORPHANET:2311 HES7 84667 HP:0002093 Respiratory insufficiency ORPHANET:2311 HES7 84667 HP:0002808 Kyphosis ORPHANET:2311 HES7 84667 HP:0000028 Cryptorchidism ORPHANET:2311 HES7 84667 HP:0006101 Finger syndactyly ORPHANET:2311 HES7 84667 HP:0000776 Congenital diaphragmatic hernia ORPHANET:2311 HES7 84667 HP:0000337 Broad forehead ORPHANET:2311 HES7 84667 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:2311 HES7 84667 HP:0002435 Meningocele ORPHANET:2311 HES7 84667 HP:0005108 Abnormality of the intervertebral disk ORPHANET:2311 HES7 84667 HP:0000069 Abnormality of the ureter ORPHANET:2311 HES7 84667 HP:0100589 Urogenital fistula ORPHANET:2311 HES7 84667 HP:0000008 Abnormality of female internal genitalia ORPHANET:2311 HES7 84667 HP:0003422 Vertebral segmentation defect ORPHANET:2311 DLL3 10683 HP:0002650 Scoliosis ORPHANET:2311 DLL3 10683 HP:0000470 Short neck ORPHANET:2311 DLL3 10683 HP:0001537 Umbilical hernia ORPHANET:2311 DLL3 10683 HP:0000256 Macrocephaly ORPHANET:2311 DLL3 10683 HP:0100543 Cognitive impairment ORPHANET:2311 DLL3 10683 HP:0000463 Anteverted nares ORPHANET:2311 DLL3 10683 HP:0000772 Abnormality of the ribs ORPHANET:2311 DLL3 10683 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2311 DLL3 10683 HP:0003298 Spina bifida occulta ORPHANET:2311 DLL3 10683 HP:0010306 Short thorax ORPHANET:2311 DLL3 10683 HP:0004322 Short stature ORPHANET:2311 DLL3 10683 HP:0002564 Malformation of the heart and great vessels ORPHANET:2311 DLL3 10683 HP:0000269 Prominent occiput ORPHANET:2311 DLL3 10683 HP:0100627 Displacement of the external urethral meatus ORPHANET:2311 DLL3 10683 HP:0010772 Anomalous pulmonary venous return ORPHANET:2311 DLL3 10683 HP:0005280 Depressed nasal bridge ORPHANET:2311 DLL3 10683 HP:0000252 Microcephaly ORPHANET:2311 DLL3 10683 HP:0010978 Abnormality of immune system physiology ORPHANET:2311 DLL3 10683 HP:0001511 Intrauterine growth retardation ORPHANET:2311 DLL3 10683 HP:0100490 Camptodactyly of finger ORPHANET:2311 DLL3 10683 HP:0000343 Long philtrum ORPHANET:2311 DLL3 10683 HP:0000175 Cleft palate ORPHANET:2311 DLL3 10683 HP:0002093 Respiratory insufficiency ORPHANET:2311 DLL3 10683 HP:0002808 Kyphosis ORPHANET:2311 DLL3 10683 HP:0000028 Cryptorchidism ORPHANET:2311 DLL3 10683 HP:0006101 Finger syndactyly ORPHANET:2311 DLL3 10683 HP:0000776 Congenital diaphragmatic hernia ORPHANET:2311 DLL3 10683 HP:0000337 Broad forehead ORPHANET:2311 DLL3 10683 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:2311 DLL3 10683 HP:0002435 Meningocele ORPHANET:2311 DLL3 10683 HP:0005108 Abnormality of the intervertebral disk ORPHANET:2311 DLL3 10683 HP:0000069 Abnormality of the ureter ORPHANET:2311 DLL3 10683 HP:0100589 Urogenital fistula ORPHANET:2311 DLL3 10683 HP:0000008 Abnormality of female internal genitalia ORPHANET:2311 DLL3 10683 HP:0003422 Vertebral segmentation defect ORPHANET:2311 LFNG 3955 HP:0002650 Scoliosis ORPHANET:2311 LFNG 3955 HP:0000470 Short neck ORPHANET:2311 LFNG 3955 HP:0001537 Umbilical hernia ORPHANET:2311 LFNG 3955 HP:0000256 Macrocephaly ORPHANET:2311 LFNG 3955 HP:0100543 Cognitive impairment ORPHANET:2311 LFNG 3955 HP:0000463 Anteverted nares ORPHANET:2311 LFNG 3955 HP:0000772 Abnormality of the ribs ORPHANET:2311 LFNG 3955 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2311 LFNG 3955 HP:0003298 Spina bifida occulta ORPHANET:2311 LFNG 3955 HP:0010306 Short thorax ORPHANET:2311 LFNG 3955 HP:0004322 Short stature ORPHANET:2311 LFNG 3955 HP:0002564 Malformation of the heart and great vessels ORPHANET:2311 LFNG 3955 HP:0000269 Prominent occiput ORPHANET:2311 LFNG 3955 HP:0100627 Displacement of the external urethral meatus ORPHANET:2311 LFNG 3955 HP:0010772 Anomalous pulmonary venous return ORPHANET:2311 LFNG 3955 HP:0005280 Depressed nasal bridge ORPHANET:2311 LFNG 3955 HP:0000252 Microcephaly ORPHANET:2311 LFNG 3955 HP:0010978 Abnormality of immune system physiology ORPHANET:2311 LFNG 3955 HP:0001511 Intrauterine growth retardation ORPHANET:2311 LFNG 3955 HP:0100490 Camptodactyly of finger ORPHANET:2311 LFNG 3955 HP:0000343 Long philtrum ORPHANET:2311 LFNG 3955 HP:0000175 Cleft palate ORPHANET:2311 LFNG 3955 HP:0002093 Respiratory insufficiency ORPHANET:2311 LFNG 3955 HP:0002808 Kyphosis ORPHANET:2311 LFNG 3955 HP:0000028 Cryptorchidism ORPHANET:2311 LFNG 3955 HP:0006101 Finger syndactyly ORPHANET:2311 LFNG 3955 HP:0000776 Congenital diaphragmatic hernia ORPHANET:2311 LFNG 3955 HP:0000337 Broad forehead ORPHANET:2311 LFNG 3955 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:2311 LFNG 3955 HP:0002435 Meningocele ORPHANET:2311 LFNG 3955 HP:0005108 Abnormality of the intervertebral disk ORPHANET:2311 LFNG 3955 HP:0000069 Abnormality of the ureter ORPHANET:2311 LFNG 3955 HP:0100589 Urogenital fistula ORPHANET:2311 LFNG 3955 HP:0000008 Abnormality of female internal genitalia ORPHANET:2311 LFNG 3955 HP:0003422 Vertebral segmentation defect ORPHANET:2311 MESP2 145873 HP:0002650 Scoliosis ORPHANET:2311 MESP2 145873 HP:0000470 Short neck ORPHANET:2311 MESP2 145873 HP:0001537 Umbilical hernia ORPHANET:2311 MESP2 145873 HP:0000256 Macrocephaly ORPHANET:2311 MESP2 145873 HP:0100543 Cognitive impairment ORPHANET:2311 MESP2 145873 HP:0000463 Anteverted nares ORPHANET:2311 MESP2 145873 HP:0000772 Abnormality of the ribs ORPHANET:2311 MESP2 145873 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2311 MESP2 145873 HP:0003298 Spina bifida occulta ORPHANET:2311 MESP2 145873 HP:0010306 Short thorax ORPHANET:2311 MESP2 145873 HP:0004322 Short stature ORPHANET:2311 MESP2 145873 HP:0002564 Malformation of the heart and great vessels ORPHANET:2311 MESP2 145873 HP:0000269 Prominent occiput ORPHANET:2311 MESP2 145873 HP:0100627 Displacement of the external urethral meatus ORPHANET:2311 MESP2 145873 HP:0010772 Anomalous pulmonary venous return ORPHANET:2311 MESP2 145873 HP:0005280 Depressed nasal bridge ORPHANET:2311 MESP2 145873 HP:0000252 Microcephaly ORPHANET:2311 MESP2 145873 HP:0010978 Abnormality of immune system physiology ORPHANET:2311 MESP2 145873 HP:0001511 Intrauterine growth retardation ORPHANET:2311 MESP2 145873 HP:0100490 Camptodactyly of finger ORPHANET:2311 MESP2 145873 HP:0000343 Long philtrum ORPHANET:2311 MESP2 145873 HP:0000175 Cleft palate ORPHANET:2311 MESP2 145873 HP:0002093 Respiratory insufficiency ORPHANET:2311 MESP2 145873 HP:0002808 Kyphosis ORPHANET:2311 MESP2 145873 HP:0000028 Cryptorchidism ORPHANET:2311 MESP2 145873 HP:0006101 Finger syndactyly ORPHANET:2311 MESP2 145873 HP:0000776 Congenital diaphragmatic hernia ORPHANET:2311 MESP2 145873 HP:0000337 Broad forehead ORPHANET:2311 MESP2 145873 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:2311 MESP2 145873 HP:0002435 Meningocele ORPHANET:2311 MESP2 145873 HP:0005108 Abnormality of the intervertebral disk ORPHANET:2311 MESP2 145873 HP:0000069 Abnormality of the ureter ORPHANET:2311 MESP2 145873 HP:0100589 Urogenital fistula ORPHANET:2311 MESP2 145873 HP:0000008 Abnormality of female internal genitalia ORPHANET:2311 MESP2 145873 HP:0003422 Vertebral segmentation defect OMIM:162100 SEPT9 10801 HP:0000202 Oral cleft OMIM:162100 SEPT9 10801 HP:0003457 EMG abnormality OMIM:162100 SEPT9 10801 HP:0000006 Autosomal dominant inheritance OMIM:162100 SEPT9 10801 HP:0000286 Epicanthus OMIM:162100 SEPT9 10801 HP:0001324 Muscle weakness OMIM:162100 SEPT9 10801 HP:0004322 Short stature OMIM:162100 SEPT9 10801 HP:0000508 Ptosis OMIM:162100 SEPT9 10801 HP:0002093 Respiratory insufficiency OMIM:162100 SEPT9 10801 HP:0000175 Cleft palate OMIM:162100 SEPT9 10801 HP:0002167 Neurological speech impairment OMIM:162100 SEPT9 10801 HP:0001271 Polyneuropathy OMIM:162100 SEPT9 10801 HP:0002360 Sleep disturbance OMIM:162100 SEPT9 10801 HP:0005280 Depressed nasal bridge OMIM:162100 SEPT9 10801 HP:0000324 Facial asymmetry OMIM:162100 SEPT9 10801 HP:0001063 Acrocyanosis OMIM:162100 SEPT9 10801 HP:0009830 Peripheral neuropathy OMIM:162100 SEPT9 10801 HP:0003202 Skeletal muscle atrophy OMIM:162100 SEPT9 10801 HP:0040078 Axonal degeneration OMIM:162100 SEPT9 10801 HP:0000490 Deeply set eye OMIM:162100 SEPT9 10801 HP:0002829 Arthralgia OMIM:162100 SEPT9 10801 HP:0000160 Narrow mouth OMIM:162100 SEPT9 10801 HP:0000582 Upslanted palpebral fissure OMIM:162100 SEPT9 10801 HP:0003401 Paresthesia OMIM:162100 SEPT9 10801 HP:0000369 Low-set ears OMIM:162100 SEPT9 10801 HP:0000311 Round face OMIM:162100 SEPT9 10801 HP:0001265 Hyporeflexia OMIM:162100 SEPT9 10801 HP:0000912 Sprengel anomaly OMIM:162100 SEPT9 10801 HP:0000581 Blepharophimosis OMIM:162100 SEPT9 10801 HP:0000601 Hypotelorism OMIM:609638 DSP 1832 HP:0000695 Natal tooth OMIM:609638 DSP 1832 HP:0004057 Mitten deformity OMIM:609638 DSP 1832 HP:0200042 Skin ulcer OMIM:609638 DSP 1832 HP:0001596 Alopecia OMIM:609638 DSP 1832 HP:0001639 Hypertrophic cardiomyopathy OMIM:609638 DSP 1832 HP:0200041 Skin erosion OMIM:609638 DSP 1832 HP:0008066 Abnormal blistering of the skin OMIM:609638 DSP 1832 HP:0001852 Sandal gap OMIM:609638 DSP 1832 HP:0006288 Advanced eruption of teeth OMIM:609638 DSP 1832 HP:0008094 Widely spaced toes OMIM:609638 DSP 1832 HP:0003811 Neonatal death OMIM:609638 DSP 1832 HP:0009884 Tapered distal phalanges of finger OMIM:609638 DSP 1832 HP:0001798 Anonychia OMIM:609638 DSP 1832 HP:0004295 Abnormality of the gastric mucosa OMIM:609638 DSP 1832 HP:0000007 Autosomal recessive inheritance OMIM:609638 DSP 1832 HP:0100792 Acantholysis OMIM:609638 DSP 1832 HP:0001741 Phimosis OMIM:615360 GDF6 392255 HP:0000007 Autosomal recessive inheritance OMIM:610202 MAF 4094 HP:0000541 Retinal detachment OMIM:610202 MAF 4094 HP:0000482 Microcornea OMIM:610202 MAF 4094 HP:0000612 Iris coloboma OMIM:610202 MAF 4094 HP:0007780 Cortical pulverulent cataract OMIM:610202 MAF 4094 HP:0001104 Macular hypoplasia OMIM:610202 MAF 4094 HP:0000006 Autosomal dominant inheritance OMIM:610202 MAF 4094 HP:0007976 Cerulean cataract OMIM:607785 PTPN11 5781 HP:0012209 Juvenile myelomonocytic leukemia OMIM:607785 PTPN11 5781 HP:0001428 Somatic mutation OMIM:607785 NF1 4763 HP:0012209 Juvenile myelomonocytic leukemia OMIM:607785 NF1 4763 HP:0001428 Somatic mutation OMIM:607785 ARHGAP26 23092 HP:0012209 Juvenile myelomonocytic leukemia OMIM:607785 ARHGAP26 23092 HP:0001428 Somatic mutation OMIM:611809 BEST1 7439 HP:0007663 Decreased central vision OMIM:611809 BEST1 7439 HP:0000540 Hypermetropia OMIM:611809 BEST1 7439 HP:0000007 Autosomal recessive inheritance OMIM:611809 BEST1 7439 HP:0012045 Retinal flecks OMIM:611809 BEST1 7439 HP:0000654 Decreased electroretinogram (ERG) amplitude OMIM:611809 BEST1 7439 HP:0000488 Retinopathy OMIM:603041 TYMP 1890 HP:0000508 Ptosis OMIM:603041 TYMP 1890 HP:0002579 Gastrointestinal dysmotility OMIM:603041 TYMP 1890 HP:0003200 Ragged-red muscle fibers OMIM:603041 TYMP 1890 HP:0003676 Progressive disorder OMIM:603041 TYMP 1890 HP:0002254 Intermittent diarrhea OMIM:603041 TYMP 1890 HP:0002578 Gastroparesis OMIM:603041 TYMP 1890 HP:0002936 Distal sensory impairment OMIM:603041 TYMP 1890 HP:0000007 Autosomal recessive inheritance OMIM:603041 TYMP 1890 HP:0003689 Multiple mitochondrial DNA deletions OMIM:603041 TYMP 1890 HP:0002024 Malabsorption OMIM:603041 TYMP 1890 HP:0003688 Decreased activity of cytochrome C oxidase in muscle tissue OMIM:603041 TYMP 1890 HP:0002019 Constipation OMIM:603041 TYMP 1890 HP:0002013 Vomiting OMIM:603041 TYMP 1890 HP:0001284 Areflexia OMIM:603041 TYMP 1890 HP:0003128 Lactic acidosis OMIM:603041 TYMP 1890 HP:0100613 Death in early adulthood OMIM:603041 TYMP 1890 HP:0002460 Distal muscle weakness OMIM:603041 TYMP 1890 HP:0003548 Subsarcolemmal accumulations of abnormally shaped mitochondria OMIM:603041 TYMP 1890 HP:0004326 Cachexia OMIM:603041 TYMP 1890 HP:0002027 Abdominal pain OMIM:603041 TYMP 1890 HP:0003737 Mitochondrial myopathy OMIM:603041 TYMP 1890 HP:0000407 Sensorineural hearing impairment OMIM:603041 TYMP 1890 HP:0002352 Leukoencephalopathy OMIM:603041 TYMP 1890 HP:0000590 Progressive external ophthalmoplegia OMIM:603041 TYMP 1890 HP:0003693 Distal amyotrophy OMIM:603041 TYMP 1890 HP:0004395 Malnutrition OMIM:603041 TYMP 1890 HP:0007103 Hypointensity of cerebral white matter on MRI OMIM:607143 ALG12 79087 HP:0100543 Cognitive impairment OMIM:607143 ALG12 79087 HP:0010978 Abnormality of immune system physiology OMIM:607143 ALG12 79087 HP:0000078 Abnormality of the genital system OMIM:607143 ALG12 79087 HP:0001252 Muscular hypotonia ORPHANET:2053 MYH3 4621 HP:0000430 Underdeveloped nasal alae ORPHANET:2053 MYH3 4621 HP:0001376 Limitation of joint mobility ORPHANET:2053 MYH3 4621 HP:0001562 Oligohydramnios ORPHANET:2053 MYH3 4621 HP:0000431 Wide nasal bridge ORPHANET:2053 MYH3 4621 HP:0000486 Strabismus ORPHANET:2053 MYH3 4621 HP:0100790 Hernia ORPHANET:2053 MYH3 4621 HP:0000164 Abnormality of the teeth ORPHANET:2053 MYH3 4621 HP:0002047 Malignant hyperthermia ORPHANET:2053 MYH3 4621 HP:0002650 Scoliosis ORPHANET:2053 MYH3 4621 HP:0004322 Short stature ORPHANET:2053 MYH3 4621 HP:0000494 Downslanted palpebral fissures ORPHANET:2053 MYH3 4621 HP:0005288 Abnormality of the nares ORPHANET:2053 MYH3 4621 HP:0001557 Prenatal movement abnormality ORPHANET:2053 MYH3 4621 HP:0002167 Neurological speech impairment ORPHANET:2053 MYH3 4621 HP:0100490 Camptodactyly of finger ORPHANET:2053 MYH3 4621 HP:0000365 Hearing impairment ORPHANET:2053 MYH3 4621 HP:0000160 Narrow mouth ORPHANET:2053 MYH3 4621 HP:0000211 Trismus ORPHANET:2053 MYH3 4621 HP:0001561 Polyhydramnios ORPHANET:2053 MYH3 4621 HP:0000508 Ptosis ORPHANET:2053 MYH3 4621 HP:0010489 Absent palmar crease ORPHANET:2053 MYH3 4621 HP:0009465 Ulnar deviation of finger ORPHANET:2053 MYH3 4621 HP:0000490 Deeply set eye ORPHANET:2053 MYH3 4621 HP:0000316 Hypertelorism ORPHANET:2053 MYH3 4621 HP:0000343 Long philtrum ORPHANET:2053 MYH3 4621 HP:0000028 Cryptorchidism ORPHANET:2053 MYH3 4621 HP:0001883 Talipes ORPHANET:2053 MYH3 4621 HP:0010751 Chin dimple OMIM:613706 BRAF 673 HP:0001631 Defect in the atrial septum OMIM:613706 BRAF 673 HP:0000391 Thickened helices OMIM:613706 BRAF 673 HP:0004322 Short stature OMIM:613706 BRAF 673 HP:0001249 Intellectual disability OMIM:613706 BRAF 673 HP:0000369 Low-set ears OMIM:613706 BRAF 673 HP:0008872 Feeding difficulties in infancy OMIM:613706 BRAF 673 HP:0000316 Hypertelorism OMIM:613706 BRAF 673 HP:0001252 Muscular hypotonia OMIM:613706 BRAF 673 HP:0000006 Autosomal dominant inheritance OMIM:613706 BRAF 673 HP:0001642 Pulmonic stenosis OMIM:613706 BRAF 673 HP:0000953 Hyperpigmentation of the skin OMIM:613706 BRAF 673 HP:0000268 Dolichocephaly OMIM:613706 BRAF 673 HP:0011220 Prominent forehead OMIM:608805 COL2A1 1280 HP:0000006 Autosomal dominant inheritance OMIM:608805 COL2A1 1280 HP:0005743 Avascular necrosis of the capital femoral epiphysis OMIM:201470 ACADS 35 HP:0001250 Seizures OMIM:201470 ACADS 35 HP:0004911 Episodic metabolic acidosis OMIM:201470 ACADS 35 HP:0000007 Autosomal recessive inheritance OMIM:201470 ACADS 35 HP:0002650 Scoliosis OMIM:201470 ACADS 35 HP:0001638 Cardiomyopathy OMIM:201470 ACADS 35 HP:0001254 Lethargy OMIM:201470 ACADS 35 HP:0003198 Myopathy OMIM:201470 ACADS 35 HP:0000750 Delayed speech and language development OMIM:201470 ACADS 35 HP:0000709 Psychosis OMIM:201470 ACADS 35 HP:0000544 External ophthalmoplegia OMIM:201470 ACADS 35 HP:0001508 Failure to thrive OMIM:201470 ACADS 35 HP:0001263 Global developmental delay OMIM:201470 ACADS 35 HP:0003219 Ethylmalonic aciduria OMIM:201470 ACADS 35 HP:0002500 Abnormality of the cerebral white matter OMIM:201470 ACADS 35 HP:0008872 Feeding difficulties in infancy OMIM:201470 ACADS 35 HP:0001371 Flexion contracture OMIM:201470 ACADS 35 HP:0010628 Facial palsy OMIM:201470 ACADS 35 HP:0003623 Neonatal onset OMIM:201470 ACADS 35 HP:0001252 Muscular hypotonia OMIM:613674 SOX17 64321 HP:0000072 Hydroureter OMIM:613674 SOX17 64321 HP:0000126 Hydronephrosis OMIM:613674 SOX17 64321 HP:0000076 Vesicoureteral reflux OMIM:613674 SOX17 64321 HP:0001561 Polyhydramnios OMIM:613674 SOX17 64321 HP:0000006 Autosomal dominant inheritance OMIM:227500 F7 2155 HP:0008169 Reduced factor VII activity OMIM:227500 F7 2155 HP:0000421 Epistaxis OMIM:227500 F7 2155 HP:0000007 Autosomal recessive inheritance OMIM:227500 F7 2155 HP:0002170 Intracranial hemorrhage OMIM:227500 F7 2155 HP:0003828 Variable expressivity OMIM:227500 F7 2155 HP:0005261 Joint hemorrhage OMIM:227500 F7 2155 HP:0000132 Menorrhagia OMIM:227500 F7 2155 HP:0012233 Intramuscular hematoma OMIM:204650 ENAM 10117 HP:0006286 Yellow-brown discoloration of the teeth OMIM:204650 ENAM 10117 HP:0009102 Anterior open-bite malocclusion OMIM:204650 ENAM 10117 HP:0006285 Hypomineralization of enamel OMIM:204650 ENAM 10117 HP:0001425 Heterogeneous OMIM:204650 ENAM 10117 HP:0000007 Autosomal recessive inheritance OMIM:204650 ENAM 10117 HP:0000705 Amelogenesis imperfecta OMIM:610476 DSC2 1824 HP:0000982 Palmoplantar keratoderma OMIM:610476 DSC2 1824 HP:0001279 Syncope OMIM:610476 DSC2 1824 HP:0001962 Palpitations OMIM:610476 DSC2 1824 HP:0002224 Woolly hair OMIM:610476 DSC2 1824 HP:0002094 Dyspnea OMIM:610476 DSC2 1824 HP:0000007 Autosomal recessive inheritance OMIM:610476 DSC2 1824 HP:0004308 Ventricular arrhythmia OMIM:610476 DSC2 1824 HP:0011663 Right ventricular cardiomyopathy OMIM:610476 DSC2 1824 HP:0001645 Sudden cardiac death OMIM:610476 DSC2 1824 HP:0000006 Autosomal dominant inheritance OMIM:614065 FLNC 2318 HP:0008944 Distal lower limb amyotrophy OMIM:614065 FLNC 2318 HP:0003198 Myopathy OMIM:614065 FLNC 2318 HP:0001430 Abnormality of the calf musculature OMIM:614065 FLNC 2318 HP:0001324 Muscle weakness OMIM:614065 FLNC 2318 HP:0000006 Autosomal dominant inheritance OMIM:614065 FLNC 2318 HP:0007149 Distal upper limb amyotrophy OMIM:614065 FLNC 2318 HP:0003677 Slow progression OMIM:614065 FLNC 2318 HP:0001265 Hyporeflexia OMIM:614065 FLNC 2318 HP:0008180 Mildly elevated creatine phosphokinase OMIM:221820 CSF1R 1436 HP:0002300 Mutism OMIM:221820 CSF1R 1436 HP:0002063 Rigidity OMIM:221820 CSF1R 1436 HP:0001257 Spasticity OMIM:221820 CSF1R 1436 HP:0002186 Apraxia OMIM:221820 CSF1R 1436 HP:0007305 CNS demyelination OMIM:221820 CSF1R 1436 HP:0002362 Shuffling gait OMIM:221820 CSF1R 1436 HP:0000006 Autosomal dominant inheritance OMIM:221820 CSF1R 1436 HP:0001347 Hyperreflexia OMIM:221820 CSF1R 1436 HP:0000727 Frontal lobe dementia OMIM:221820 CSF1R 1436 HP:0003678 Rapidly progressive OMIM:221820 CSF1R 1436 HP:0000716 Depression OMIM:221820 CSF1R 1436 HP:0002172 Postural instability OMIM:221820 CSF1R 1436 HP:0003581 Adult onset OMIM:221820 CSF1R 1436 HP:0002354 Memory impairment OMIM:221820 CSF1R 1436 HP:0002067 Bradykinesia OMIM:221820 CSF1R 1436 HP:0002171 Gliosis OMIM:221820 CSF1R 1436 HP:0002529 Neuronal loss in central nervous system OMIM:221820 CSF1R 1436 HP:0002500 Abnormality of the cerebral white matter OMIM:221820 CSF1R 1436 HP:0002352 Leukoencephalopathy OMIM:606353 ALS2 57679 HP:0001276 Hypertonia OMIM:606353 ALS2 57679 HP:0001285 Spastic tetraparesis OMIM:606353 ALS2 57679 HP:0001324 Muscle weakness OMIM:606353 ALS2 57679 HP:0003487 Babinski sign OMIM:606353 ALS2 57679 HP:0002200 Pseudobulbar signs OMIM:606353 ALS2 57679 HP:0000079 Abnormality of the urinary system OMIM:606353 ALS2 57679 HP:0001152 Saccadic smooth pursuit OMIM:606353 ALS2 57679 HP:0001347 Hyperreflexia OMIM:606353 ALS2 57679 HP:0002311 Incoordination OMIM:606353 ALS2 57679 HP:0002120 Cerebral cortical atrophy OMIM:606353 ALS2 57679 HP:0002064 Spastic gait OMIM:606353 ALS2 57679 HP:0004374 Hemiplegia/hemiparesis OMIM:606353 ALS2 57679 HP:0002167 Neurological speech impairment OMIM:606353 ALS2 57679 HP:0002491 Spasticity of facial muscles OMIM:606353 ALS2 57679 HP:0002501 Spasticity of pharyngeal muscles OMIM:606353 ALS2 57679 HP:0000183 Difficulty in tongue movements OMIM:606353 ALS2 57679 HP:0002015 Dysphagia OMIM:606353 ALS2 57679 HP:0011463 Childhood onset OMIM:606353 ALS2 57679 HP:0007256 Abnormal pyramidal signs OMIM:606353 ALS2 57679 HP:0002464 Spastic dysarthria OMIM:606353 ALS2 57679 HP:0002127 Abnormal upper motor neuron morphology OMIM:606353 ALS2 57679 HP:0003677 Slow progression OMIM:606353 ALS2 57679 HP:0008872 Feeding difficulties in infancy OMIM:606353 ALS2 57679 HP:0003621 Juvenile onset OMIM:606353 ALS2 57679 HP:0003202 Skeletal muscle atrophy OMIM:606353 ALS2 57679 HP:0001288 Gait disturbance OMIM:606353 ALS2 57679 HP:0002193 Pseudobulbar behavioral symptoms OMIM:606353 ALS2 57679 HP:0000007 Autosomal recessive inheritance OMIM:603552 STX11 8676 HP:0001263 Global developmental delay OMIM:603552 STX11 8676 HP:0001903 Anemia OMIM:603552 STX11 8676 HP:0003281 Increased serum ferritin OMIM:603552 STX11 8676 HP:0001744 Splenomegaly OMIM:603552 STX11 8676 HP:0012156 Hemophagocytosis OMIM:603552 STX11 8676 HP:0002240 Hepatomegaly OMIM:603552 STX11 8676 HP:0001252 Muscular hypotonia OMIM:603552 STX11 8676 HP:0002155 Hypertriglyceridemia OMIM:603552 STX11 8676 HP:0001873 Thrombocytopenia OMIM:603552 STX11 8676 HP:0011900 Hypofibrinogenemia OMIM:603552 STX11 8676 HP:0001875 Neutropenia OMIM:603552 STX11 8676 HP:0001945 Fever OMIM:603552 STX11 8676 HP:0000007 Autosomal recessive inheritance OMIM:603552 STX11 8676 HP:0001250 Seizures OMIM:145981 GNA11 2767 HP:0003127 Hypocalciuria OMIM:145981 GNA11 2767 HP:0003529 Parathormone-independent increased renal tubular calcium reabsorption OMIM:145981 GNA11 2767 HP:0000787 Nephrolithiasis OMIM:145981 GNA11 2767 HP:0002918 Hypermagnesemia OMIM:145981 GNA11 2767 HP:0001733 Pancreatitis OMIM:145981 GNA11 2767 HP:0001012 Multiple lipomas OMIM:145981 GNA11 2767 HP:0004398 Peptic ulcer OMIM:145981 GNA11 2767 HP:0008200 Primary hyperparathyroidism OMIM:145981 GNA11 2767 HP:0003072 Hypercalcemia OMIM:145981 GNA11 2767 HP:0000934 Chondrocalcinosis OMIM:303350 L1CAM 3897 HP:0001419 X-linked recessive inheritance OMIM:303350 L1CAM 3897 HP:0004374 Hemiplegia/hemiparesis OMIM:303350 L1CAM 3897 HP:0001761 Pes cavus OMIM:303350 L1CAM 3897 HP:0001762 Talipes equinovarus OMIM:303350 L1CAM 3897 HP:0001274 Agenesis of corpus callosum OMIM:303350 L1CAM 3897 HP:0004322 Short stature OMIM:303350 L1CAM 3897 HP:0000486 Strabismus OMIM:303350 L1CAM 3897 HP:0002362 Shuffling gait OMIM:303350 L1CAM 3897 HP:0000238 Hydrocephalus OMIM:303350 L1CAM 3897 HP:0001288 Gait disturbance OMIM:303350 L1CAM 3897 HP:0100543 Cognitive impairment OMIM:303350 L1CAM 3897 HP:0002381 Aphasia OMIM:303350 L1CAM 3897 HP:0002167 Neurological speech impairment OMIM:303350 L1CAM 3897 HP:0000256 Macrocephaly OMIM:303350 L1CAM 3897 HP:0001258 Spastic paraplegia OMIM:303350 L1CAM 3897 HP:0000252 Microcephaly OMIM:303350 L1CAM 3897 HP:0002119 Ventriculomegaly OMIM:303350 L1CAM 3897 HP:0003307 Hyperlordosis OMIM:303350 L1CAM 3897 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:303350 L1CAM 3897 HP:0001181 Adducted thumb OMIM:303350 L1CAM 3897 HP:0001249 Intellectual disability OMIM:303350 L1CAM 3897 HP:0001347 Hyperreflexia OMIM:303350 L1CAM 3897 HP:0004209 Clinodactyly of the 5th finger OMIM:303350 L1CAM 3897 HP:0100490 Camptodactyly of finger OMIM:303350 L1CAM 3897 HP:0002808 Kyphosis OMIM:267430 AGTR1 185 HP:0001561 Polyhydramnios OMIM:267430 AGTR1 185 HP:0008660 Renotubular dysgenesis OMIM:267430 AGTR1 185 HP:0000112 Nephropathy OMIM:267430 AGTR1 185 HP:0001562 Oligohydramnios OMIM:267430 AGTR1 185 HP:0000113 Polycystic kidney dysplasia OMIM:267430 AGTR1 185 HP:0002093 Respiratory insufficiency OMIM:267430 AGTR1 185 HP:0001636 Tetralogy of Fallot OMIM:267430 AGTR1 185 HP:0100519 Anuria OMIM:267430 AGTR1 185 HP:0002009 Potter facies OMIM:267430 AGTR1 185 HP:0000954 Single transverse palmar crease OMIM:267430 AGTR1 185 HP:0000316 Hypertelorism OMIM:267430 AGTR1 185 HP:0002615 Hypotension OMIM:267430 AGTR1 185 HP:0001382 Joint hypermobility OMIM:267430 AGTR1 185 HP:0002089 Pulmonary hypoplasia OMIM:267430 AGTR1 185 HP:0000252 Microcephaly OMIM:267430 AGTR1 185 HP:0000091 Abnormality of the renal tubule OMIM:267430 AGTR1 185 HP:0001622 Premature birth OMIM:267430 AGTR1 185 HP:0000007 Autosomal recessive inheritance OMIM:267430 AGTR1 185 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:267430 AGTR1 185 HP:0004492 Widely patent fontanelles and sutures OMIM:267430 AGT 183 HP:0001561 Polyhydramnios OMIM:267430 AGT 183 HP:0008660 Renotubular dysgenesis OMIM:267430 AGT 183 HP:0000112 Nephropathy OMIM:267430 AGT 183 HP:0001562 Oligohydramnios OMIM:267430 AGT 183 HP:0000113 Polycystic kidney dysplasia OMIM:267430 AGT 183 HP:0002093 Respiratory insufficiency OMIM:267430 AGT 183 HP:0001636 Tetralogy of Fallot OMIM:267430 AGT 183 HP:0100519 Anuria OMIM:267430 AGT 183 HP:0002009 Potter facies OMIM:267430 AGT 183 HP:0000954 Single transverse palmar crease OMIM:267430 AGT 183 HP:0000316 Hypertelorism OMIM:267430 AGT 183 HP:0002615 Hypotension OMIM:267430 AGT 183 HP:0001382 Joint hypermobility OMIM:267430 AGT 183 HP:0002089 Pulmonary hypoplasia OMIM:267430 AGT 183 HP:0000252 Microcephaly OMIM:267430 AGT 183 HP:0000091 Abnormality of the renal tubule OMIM:267430 AGT 183 HP:0001622 Premature birth OMIM:267430 AGT 183 HP:0000007 Autosomal recessive inheritance OMIM:267430 AGT 183 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:267430 AGT 183 HP:0004492 Widely patent fontanelles and sutures OMIM:267430 ACE 1636 HP:0001561 Polyhydramnios OMIM:267430 ACE 1636 HP:0008660 Renotubular dysgenesis OMIM:267430 ACE 1636 HP:0000112 Nephropathy OMIM:267430 ACE 1636 HP:0001562 Oligohydramnios OMIM:267430 ACE 1636 HP:0000113 Polycystic kidney dysplasia OMIM:267430 ACE 1636 HP:0002093 Respiratory insufficiency OMIM:267430 ACE 1636 HP:0001636 Tetralogy of Fallot OMIM:267430 ACE 1636 HP:0100519 Anuria OMIM:267430 ACE 1636 HP:0002009 Potter facies OMIM:267430 ACE 1636 HP:0000954 Single transverse palmar crease OMIM:267430 ACE 1636 HP:0000316 Hypertelorism OMIM:267430 ACE 1636 HP:0002615 Hypotension OMIM:267430 ACE 1636 HP:0001382 Joint hypermobility OMIM:267430 ACE 1636 HP:0002089 Pulmonary hypoplasia OMIM:267430 ACE 1636 HP:0000252 Microcephaly OMIM:267430 ACE 1636 HP:0000091 Abnormality of the renal tubule OMIM:267430 ACE 1636 HP:0001622 Premature birth OMIM:267430 ACE 1636 HP:0000007 Autosomal recessive inheritance OMIM:267430 ACE 1636 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:267430 ACE 1636 HP:0004492 Widely patent fontanelles and sutures OMIM:267430 REN 5972 HP:0001561 Polyhydramnios OMIM:267430 REN 5972 HP:0008660 Renotubular dysgenesis OMIM:267430 REN 5972 HP:0000112 Nephropathy OMIM:267430 REN 5972 HP:0001562 Oligohydramnios OMIM:267430 REN 5972 HP:0000113 Polycystic kidney dysplasia OMIM:267430 REN 5972 HP:0002093 Respiratory insufficiency OMIM:267430 REN 5972 HP:0001636 Tetralogy of Fallot OMIM:267430 REN 5972 HP:0100519 Anuria OMIM:267430 REN 5972 HP:0002009 Potter facies OMIM:267430 REN 5972 HP:0000954 Single transverse palmar crease OMIM:267430 REN 5972 HP:0000316 Hypertelorism OMIM:267430 REN 5972 HP:0002615 Hypotension OMIM:267430 REN 5972 HP:0001382 Joint hypermobility OMIM:267430 REN 5972 HP:0002089 Pulmonary hypoplasia OMIM:267430 REN 5972 HP:0000252 Microcephaly OMIM:267430 REN 5972 HP:0000091 Abnormality of the renal tubule OMIM:267430 REN 5972 HP:0001622 Premature birth OMIM:267430 REN 5972 HP:0000007 Autosomal recessive inheritance OMIM:267430 REN 5972 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:267430 REN 5972 HP:0004492 Widely patent fontanelles and sutures OMIM:613756 CNGA1 1259 HP:0000510 Retinitis pigmentosa OMIM:613756 CNGA1 1259 HP:0000007 Autosomal recessive inheritance ORPHANET:93259 FGFR2 2263 HP:0100543 Cognitive impairment ORPHANET:93259 FGFR2 2263 HP:0002566 Intestinal malrotation ORPHANET:93259 FGFR2 2263 HP:0000175 Cleft palate ORPHANET:93259 FGFR2 2263 HP:0002779 Tracheomalacia ORPHANET:93259 FGFR2 2263 HP:0006101 Finger syndactyly ORPHANET:93259 FGFR2 2263 HP:0000413 Atresia of the external auditory canal ORPHANET:93259 FGFR2 2263 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:93259 FGFR2 2263 HP:0000348 High forehead ORPHANET:93259 FGFR2 2263 HP:0001250 Seizures ORPHANET:93259 FGFR2 2263 HP:0002308 Arnold-Chiari malformation ORPHANET:93259 FGFR2 2263 HP:0002093 Respiratory insufficiency ORPHANET:93259 FGFR2 2263 HP:0100589 Urogenital fistula ORPHANET:93259 FGFR2 2263 HP:0002676 Cloverleaf skull ORPHANET:93259 FGFR2 2263 HP:0003196 Short nose ORPHANET:93259 FGFR2 2263 HP:0001841 Preaxial foot polydactyly ORPHANET:93259 FGFR2 2263 HP:0005280 Depressed nasal bridge ORPHANET:93259 FGFR2 2263 HP:0001156 Brachydactyly syndrome ORPHANET:93259 FGFR2 2263 HP:0001770 Toe syndactyly ORPHANET:93259 FGFR2 2263 HP:0010109 Short hallux ORPHANET:93259 FGFR2 2263 HP:0000453 Choanal atresia ORPHANET:93259 FGFR2 2263 HP:0000316 Hypertelorism ORPHANET:93259 FGFR2 2263 HP:0000505 Visual impairment ORPHANET:93259 FGFR2 2263 HP:0002410 Aqueductal stenosis ORPHANET:93259 FGFR2 2263 HP:0009602 Abnormality of thumb phalanx ORPHANET:93259 FGFR2 2263 HP:0000272 Malar flattening ORPHANET:93259 FGFR2 2263 HP:0000520 Proptosis ORPHANET:93259 FGFR2 2263 HP:0001376 Limitation of joint mobility ORPHANET:93259 FGFR2 2263 HP:0001601 Laryngomalacia ORPHANET:93259 FGFR2 2263 HP:0002516 Increased intracranial pressure ORPHANET:93259 FGFR2 2263 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:613950 SHANK3 85358 HP:0100753 Schizophrenia OMIM:613950 SHANK3 85358 HP:0010982 Polygenic inheritance OMIM:270685 BSCL2 26580 HP:0003427 Thenar muscle weakness OMIM:270685 BSCL2 26580 HP:0003487 Babinski sign OMIM:270685 BSCL2 26580 HP:0003393 Thenar muscle atrophy OMIM:270685 BSCL2 26580 HP:0003677 Slow progression OMIM:270685 BSCL2 26580 HP:0003426 First dorsal interossei muscle atrophy OMIM:270685 BSCL2 26580 HP:0007340 Lower limb muscle weakness OMIM:270685 BSCL2 26580 HP:0002061 Lower limb spasticity OMIM:270685 BSCL2 26580 HP:0000006 Autosomal dominant inheritance OMIM:270685 BSCL2 26580 HP:0002064 Spastic gait OMIM:270685 BSCL2 26580 HP:0001761 Pes cavus OMIM:270685 BSCL2 26580 HP:0002166 Impaired vibration sensation in the lower limbs OMIM:270685 BSCL2 26580 HP:0001258 Spastic paraplegia OMIM:270685 BSCL2 26580 HP:0001347 Hyperreflexia OMIM:270685 BSCL2 26580 HP:0003392 First dorsal interossei muscle weakness OMIM:608980 FREM1 158326 HP:0000007 Autosomal recessive inheritance OMIM:608980 FREM1 158326 HP:0000077 Abnormality of the kidney OMIM:608980 FREM1 158326 HP:0011803 Bifid nose OMIM:608980 FREM1 158326 HP:0001545 Anteriorly placed anus OMIM:608980 FREM1 158326 HP:0000414 Bulbous nose OMIM:608980 FREM1 158326 HP:0000322 Short philtrum OMIM:608980 FREM1 158326 HP:0000143 Rectovaginal fistula OMIM:244200 PROKR2 128674 HP:0000028 Cryptorchidism OMIM:244200 PROKR2 128674 HP:0000767 Pectus excavatum OMIM:244200 PROKR2 128674 HP:0000054 Micropenis OMIM:244200 PROKR2 128674 HP:0000458 Anosmia OMIM:244200 PROKR2 128674 HP:0001763 Pes planus OMIM:244200 PROKR2 128674 HP:0000365 Hearing impairment OMIM:244200 PROKR2 128674 HP:0000204 Cleft upper lip OMIM:244200 PROKR2 128674 HP:0000044 Hypogonadotrophic hypogonadism OMIM:244200 PROKR2 128674 HP:0000175 Cleft palate OMIM:244200 PROKR2 128674 HP:0000601 Hypotelorism OMIM:244200 PROKR2 128674 HP:0000786 Primary amenorrhea OMIM:244200 PROKR2 128674 HP:0001250 Seizures OMIM:244200 PROKR2 128674 HP:0000007 Autosomal recessive inheritance OMIM:244200 PROKR2 128674 HP:0000122 Unilateral renal agenesis OMIM:104300 APP 351 HP:0002185 Neurofibrillary tangles OMIM:104300 APP 351 HP:0000006 Autosomal dominant inheritance OMIM:104300 APP 351 HP:0001425 Heterogeneous OMIM:104300 APP 351 HP:0001300 Parkinsonism OMIM:104300 APP 351 HP:0002511 Alzheimer disease OMIM:104300 APP 351 HP:0002423 Long-tract signs OMIM:104300 APP 351 HP:0000726 Dementia OMIM:118210 KIF1B 23095 HP:0002460 Distal muscle weakness OMIM:118210 KIF1B 23095 HP:0003376 Steppage gait OMIM:118210 KIF1B 23095 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:118210 KIF1B 23095 HP:0003693 Distal amyotrophy OMIM:118210 KIF1B 23095 HP:0003677 Slow progression OMIM:118210 KIF1B 23095 HP:0001284 Areflexia OMIM:118210 KIF1B 23095 HP:0001265 Hyporeflexia OMIM:118210 KIF1B 23095 HP:0003674 Onset OMIM:118210 KIF1B 23095 HP:0003384 Peripheral axonal atrophy OMIM:118210 KIF1B 23095 HP:0003383 Onion bulb formation OMIM:118210 KIF1B 23095 HP:0009027 Foot dorsiflexor weakness OMIM:118210 KIF1B 23095 HP:0002936 Distal sensory impairment OMIM:118210 KIF1B 23095 HP:0001761 Pes cavus OMIM:118210 KIF1B 23095 HP:0001765 Hammertoe OMIM:118210 KIF1B 23095 HP:0003431 Decreased motor nerve conduction velocity OMIM:118210 KIF1B 23095 HP:0001425 Heterogeneous OMIM:118210 KIF1B 23095 HP:0003378 Axonal degeneration/regeneration OMIM:118210 KIF1B 23095 HP:0000006 Autosomal dominant inheritance OMIM:211180 EMG1 10436 HP:0000448 Prominent nose OMIM:211180 EMG1 10436 HP:0001376 Limitation of joint mobility OMIM:211180 EMG1 10436 HP:0100490 Camptodactyly of finger OMIM:211180 EMG1 10436 HP:0100543 Cognitive impairment OMIM:211180 EMG1 10436 HP:0000252 Microcephaly OMIM:211180 EMG1 10436 HP:0005105 Abnormal nasal morphology OMIM:211180 EMG1 10436 HP:0001838 Rocker bottom foot OMIM:211180 EMG1 10436 HP:0002101 Abnormal lung lobation OMIM:211180 EMG1 10436 HP:0002564 Malformation of the heart and great vessels OMIM:211180 EMG1 10436 HP:0002119 Ventriculomegaly OMIM:211180 EMG1 10436 HP:0001250 Seizures OMIM:211180 EMG1 10436 HP:0000007 Autosomal recessive inheritance OMIM:211180 EMG1 10436 HP:0000340 Sloping forehead OMIM:211180 EMG1 10436 HP:0000202 Oral cleft OMIM:211180 EMG1 10436 HP:0001518 Small for gestational age OMIM:211180 EMG1 10436 HP:0004097 Deviation of finger OMIM:211180 EMG1 10436 HP:0000347 Micrognathia OMIM:211180 EMG1 10436 HP:0001511 Intrauterine growth retardation OMIM:211180 EMG1 10436 HP:0001367 Abnormal joint morphology OMIM:211180 EMG1 10436 HP:0004209 Clinodactyly of the 5th finger OMIM:211180 EMG1 10436 HP:0001883 Talipes OMIM:211180 EMG1 10436 HP:0004322 Short stature OMIM:211180 EMG1 10436 HP:0000028 Cryptorchidism OMIM:254900 SCARB2 950 HP:0000083 Renal insufficiency OMIM:254900 SCARB2 950 HP:0000093 Proteinuria OMIM:254900 SCARB2 950 HP:0001336 Myoclonus OMIM:254900 SCARB2 950 HP:0002174 Postural tremor OMIM:254900 SCARB2 950 HP:0001873 Thrombocytopenia OMIM:254900 SCARB2 950 HP:0000007 Autosomal recessive inheritance OMIM:254900 SCARB2 950 HP:0000100 Nephrotic syndrome OMIM:254900 SCARB2 950 HP:0000112 Nephropathy OMIM:254900 SCARB2 950 HP:0002197 Generalized seizures OMIM:254900 SCARB2 950 HP:0002015 Dysphagia OMIM:254900 SCARB2 950 HP:0001260 Dysarthria OMIM:254900 SCARB2 950 HP:0001272 Cerebellar atrophy OMIM:254900 SCARB2 950 HP:0002080 Intention tremor OMIM:254900 SCARB2 950 HP:0002066 Gait ataxia OMIM:254900 SCARB2 950 HP:0000097 Focal segmental glomerulosclerosis OMIM:254900 SCARB2 950 HP:0003678 Rapidly progressive ORPHANET:95713 FOXE1 2304 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:95713 FOXE1 2304 HP:0000280 Coarse facial features ORPHANET:95713 FOXE1 2304 HP:0000157 Abnormality of the tongue ORPHANET:95713 FOXE1 2304 HP:0000821 Hypothyroidism ORPHANET:95713 FOXE1 2304 HP:0002019 Constipation ORPHANET:95713 FOXE1 2304 HP:0100543 Cognitive impairment ORPHANET:95713 FOXE1 2304 HP:0004322 Short stature ORPHANET:95713 FOXE1 2304 HP:0002360 Sleep disturbance ORPHANET:95713 FOXE1 2304 HP:0001324 Muscle weakness ORPHANET:95713 FOXE1 2304 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:95713 FOXE1 2304 HP:0001252 Muscular hypotonia ORPHANET:95713 NKX2-1 7080 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:95713 NKX2-1 7080 HP:0000280 Coarse facial features ORPHANET:95713 NKX2-1 7080 HP:0000157 Abnormality of the tongue ORPHANET:95713 NKX2-1 7080 HP:0000821 Hypothyroidism ORPHANET:95713 NKX2-1 7080 HP:0002019 Constipation ORPHANET:95713 NKX2-1 7080 HP:0100543 Cognitive impairment ORPHANET:95713 NKX2-1 7080 HP:0004322 Short stature ORPHANET:95713 NKX2-1 7080 HP:0002360 Sleep disturbance ORPHANET:95713 NKX2-1 7080 HP:0001324 Muscle weakness ORPHANET:95713 NKX2-1 7080 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:95713 NKX2-1 7080 HP:0001252 Muscular hypotonia ORPHANET:95713 TSHR 7253 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:95713 TSHR 7253 HP:0000280 Coarse facial features ORPHANET:95713 TSHR 7253 HP:0000157 Abnormality of the tongue ORPHANET:95713 TSHR 7253 HP:0000821 Hypothyroidism ORPHANET:95713 TSHR 7253 HP:0002019 Constipation ORPHANET:95713 TSHR 7253 HP:0100543 Cognitive impairment ORPHANET:95713 TSHR 7253 HP:0004322 Short stature ORPHANET:95713 TSHR 7253 HP:0002360 Sleep disturbance ORPHANET:95713 TSHR 7253 HP:0001324 Muscle weakness ORPHANET:95713 TSHR 7253 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:95713 TSHR 7253 HP:0001252 Muscular hypotonia ORPHANET:95713 NKX2-5 1482 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:95713 NKX2-5 1482 HP:0000280 Coarse facial features ORPHANET:95713 NKX2-5 1482 HP:0000157 Abnormality of the tongue ORPHANET:95713 NKX2-5 1482 HP:0000821 Hypothyroidism ORPHANET:95713 NKX2-5 1482 HP:0002019 Constipation ORPHANET:95713 NKX2-5 1482 HP:0100543 Cognitive impairment ORPHANET:95713 NKX2-5 1482 HP:0004322 Short stature ORPHANET:95713 NKX2-5 1482 HP:0002360 Sleep disturbance ORPHANET:95713 NKX2-5 1482 HP:0001324 Muscle weakness ORPHANET:95713 NKX2-5 1482 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:95713 NKX2-5 1482 HP:0001252 Muscular hypotonia ORPHANET:95713 SLC26A4 5172 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:95713 SLC26A4 5172 HP:0000280 Coarse facial features ORPHANET:95713 SLC26A4 5172 HP:0000157 Abnormality of the tongue ORPHANET:95713 SLC26A4 5172 HP:0000821 Hypothyroidism ORPHANET:95713 SLC26A4 5172 HP:0002019 Constipation ORPHANET:95713 SLC26A4 5172 HP:0100543 Cognitive impairment ORPHANET:95713 SLC26A4 5172 HP:0004322 Short stature ORPHANET:95713 SLC26A4 5172 HP:0002360 Sleep disturbance ORPHANET:95713 SLC26A4 5172 HP:0001324 Muscle weakness ORPHANET:95713 SLC26A4 5172 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:95713 SLC26A4 5172 HP:0001252 Muscular hypotonia ORPHANET:95713 PAX8 7849 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:95713 PAX8 7849 HP:0000280 Coarse facial features ORPHANET:95713 PAX8 7849 HP:0000157 Abnormality of the tongue ORPHANET:95713 PAX8 7849 HP:0000821 Hypothyroidism ORPHANET:95713 PAX8 7849 HP:0002019 Constipation ORPHANET:95713 PAX8 7849 HP:0100543 Cognitive impairment ORPHANET:95713 PAX8 7849 HP:0004322 Short stature ORPHANET:95713 PAX8 7849 HP:0002360 Sleep disturbance ORPHANET:95713 PAX8 7849 HP:0001324 Muscle weakness ORPHANET:95713 PAX8 7849 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:95713 PAX8 7849 HP:0001252 Muscular hypotonia OMIM:613978 HBA1 3039 HP:0001878 Hemolytic anemia OMIM:613978 HBA1 3039 HP:0002240 Hepatomegaly OMIM:613978 HBA1 3039 HP:0011907 Reduced alpha/beta synthesis ratio OMIM:613978 HBA1 3039 HP:0001744 Splenomegaly OMIM:613978 HBA1 3039 HP:0011903 Hemoglobin H OMIM:613978 HBA2 3040 HP:0001878 Hemolytic anemia OMIM:613978 HBA2 3040 HP:0002240 Hepatomegaly OMIM:613978 HBA2 3040 HP:0011907 Reduced alpha/beta synthesis ratio OMIM:613978 HBA2 3040 HP:0001744 Splenomegaly OMIM:613978 HBA2 3040 HP:0011903 Hemoglobin H OMIM:305390 NDP 4693 HP:0007898 Exudative retinopathy OMIM:305390 NDP 4693 HP:0007710 Peripheral vitreous opacities OMIM:305390 NDP 4693 HP:0000488 Retinopathy OMIM:305390 NDP 4693 HP:0011532 Subretinal exudate OMIM:305390 NDP 4693 HP:0001419 X-linked recessive inheritance OMIM:305390 NDP 4693 HP:0007989 Intraretinal exudate OMIM:305390 NDP 4693 HP:0000490 Deeply set eye OMIM:305390 NDP 4693 HP:0001493 Falciform retinal fold OMIM:272430 CRLF1 9244 HP:0012385 Camptodactyly OMIM:272430 CRLF1 9244 HP:0002094 Dyspnea OMIM:272430 CRLF1 9244 HP:0009466 Radial deviation of finger OMIM:272430 CRLF1 9244 HP:0001249 Intellectual disability OMIM:272430 CRLF1 9244 HP:0000007 Autosomal recessive inheritance OMIM:272430 CRLF1 9244 HP:0002751 Kyphoscoliosis OMIM:272430 CRLF1 9244 HP:0010628 Facial palsy OMIM:272430 CRLF1 9244 HP:0001181 Adducted thumb OMIM:272430 CRLF1 9244 HP:0000218 High palate OMIM:272430 CRLF1 9244 HP:0001250 Seizures OMIM:272430 CRLF1 9244 HP:0000293 Full cheeks OMIM:272430 CRLF1 9244 HP:0000369 Low-set ears OMIM:272430 CRLF1 9244 HP:0001611 Nasal speech OMIM:272430 CRLF1 9244 HP:0000160 Narrow mouth OMIM:272430 CRLF1 9244 HP:0000278 Retrognathia OMIM:272430 CRLF1 9244 HP:0004279 Short palm OMIM:272430 CRLF1 9244 HP:0000347 Micrognathia OMIM:272430 CRLF1 9244 HP:0001762 Talipes equinovarus OMIM:272430 CRLF1 9244 HP:0002179 Opisthotonus OMIM:272430 CRLF1 9244 HP:0008872 Feeding difficulties in infancy OMIM:272430 CRLF1 9244 HP:0100729 Large face OMIM:272430 CRLF1 9244 HP:0002987 Elbow flexion contracture OMIM:272430 CRLF1 9244 HP:0001763 Pes planus OMIM:272430 CRLF1 9244 HP:0000470 Short neck OMIM:272430 CRLF1 9244 HP:0001182 Tapered finger OMIM:272430 CRLF1 9244 HP:0000445 Wide nose OMIM:272430 CRLF1 9244 HP:0000670 Carious teeth OMIM:272430 CRLF1 9244 HP:0000343 Long philtrum OMIM:272430 CRLF1 9244 HP:0001377 Limited elbow extension OMIM:272430 CRLF1 9244 HP:0000463 Anteverted nares OMIM:272430 CRLF1 9244 HP:0000975 Hyperhidrosis OMIM:272430 CRLF1 9244 HP:0001954 Episodic fever OMIM:272430 CRLF1 9244 HP:0005280 Depressed nasal bridge OMIM:251850 MYO5B 4645 HP:0004385 Protracted diarrhea OMIM:251850 MYO5B 4645 HP:0002024 Malabsorption OMIM:251850 MYO5B 4645 HP:0004395 Malnutrition OMIM:251850 MYO5B 4645 HP:0001944 Dehydration OMIM:251850 MYO5B 4645 HP:0011473 Villous atrophy OMIM:251850 MYO5B 4645 HP:0000007 Autosomal recessive inheritance OMIM:251850 MYO5B 4645 HP:0001510 Growth delay OMIM:251850 MYO5B 4645 HP:0001522 Death in infancy OMIM:114835 CES1 1066 HP:0005550 Chronic lymphatic leukemia OMIM:114835 CES1 1066 HP:0000006 Autosomal dominant inheritance OMIM:114835 CES1 1066 HP:0002665 Lymphoma OMIM:114835 CES1 1066 HP:0001370 Rheumatoid arthritis OMIM:114835 CES1 1066 HP:0001939 Abnormality of metabolism/homeostasis OMIM:615597 STT3B 201595 HP:0000046 Scrotal hypoplasia OMIM:615597 STT3B 201595 HP:0001250 Seizures OMIM:615597 STT3B 201595 HP:0001410 Decreased liver function OMIM:615597 STT3B 201595 HP:0000028 Cryptorchidism OMIM:615597 STT3B 201595 HP:0001272 Cerebellar atrophy OMIM:615597 STT3B 201595 HP:0001263 Global developmental delay OMIM:615597 STT3B 201595 HP:0003577 Congenital onset OMIM:615597 STT3B 201595 HP:0002880 Respiratory difficulties OMIM:615597 STT3B 201595 HP:0000007 Autosomal recessive inheritance OMIM:615597 STT3B 201595 HP:0001873 Thrombocytopenia OMIM:615597 STT3B 201595 HP:0003819 Death in childhood OMIM:615597 STT3B 201595 HP:0011968 Feeding difficulties OMIM:615597 STT3B 201595 HP:0001508 Failure to thrive OMIM:615597 STT3B 201595 HP:0000648 Optic atrophy OMIM:615597 STT3B 201595 HP:0001511 Intrauterine growth retardation OMIM:615597 STT3B 201595 HP:0001252 Muscular hypotonia OMIM:615597 STT3B 201595 HP:0000054 Micropenis OMIM:615597 STT3B 201595 HP:0000252 Microcephaly OMIM:615597 STT3B 201595 HP:0001249 Intellectual disability ORPHANET:89841 COL7A1 1294 HP:0008066 Abnormal blistering of the skin ORPHANET:244 DNAH5 1767 HP:0002205 Recurrent respiratory infections ORPHANET:244 RPGR 6103 HP:0002205 Recurrent respiratory infections ORPHANET:244 SPAG1 6674 HP:0002205 Recurrent respiratory infections ORPHANET:244 DNAAF1 123872 HP:0002205 Recurrent respiratory infections ORPHANET:244 DNAI1 27019 HP:0002205 Recurrent respiratory infections ORPHANET:244 HYDIN 54768 HP:0002205 Recurrent respiratory infections ORPHANET:244 C21ORF59 56683 HP:0002205 Recurrent respiratory infections ORPHANET:244 RSPH4A 345895 HP:0002205 Recurrent respiratory infections ORPHANET:244 CCDC39 339829 HP:0002205 Recurrent respiratory infections ORPHANET:244 ARMC4 55130 HP:0002205 Recurrent respiratory infections ORPHANET:244 DNAAF5 54919 HP:0002205 Recurrent respiratory infections ORPHANET:244 CCNO 10309 HP:0002205 Recurrent respiratory infections ORPHANET:244 RSPH9 221421 HP:0002205 Recurrent respiratory infections ORPHANET:244 DYX1C1 161582 HP:0002205 Recurrent respiratory infections ORPHANET:244 DNAAF2 55172 HP:0002205 Recurrent respiratory infections ORPHANET:244 DNAH11 8701 HP:0002205 Recurrent respiratory infections ORPHANET:244 DNAL1 83544 HP:0002205 Recurrent respiratory infections ORPHANET:244 RSPH1 89765 HP:0002205 Recurrent respiratory infections ORPHANET:244 NME8 51314 HP:0002205 Recurrent respiratory infections ORPHANET:244 DRC1 92749 HP:0002205 Recurrent respiratory infections ORPHANET:244 LRRC6 23639 HP:0002205 Recurrent respiratory infections ORPHANET:244 ZMYND10 51364 HP:0002205 Recurrent respiratory infections ORPHANET:244 OFD1 8481 HP:0002205 Recurrent respiratory infections ORPHANET:244 CCDC40 55036 HP:0002205 Recurrent respiratory infections ORPHANET:244 DNAAF3 352909 HP:0002205 Recurrent respiratory infections ORPHANET:244 CCDC151 115948 HP:0002205 Recurrent respiratory infections ORPHANET:244 CCDC65 85478 HP:0002205 Recurrent respiratory infections ORPHANET:244 CCDC103 388389 HP:0002205 Recurrent respiratory infections ORPHANET:244 DNAI2 64446 HP:0002205 Recurrent respiratory infections ORPHANET:244 CCDC114 93233 HP:0002205 Recurrent respiratory infections OMIM:193235 CAPN5 726 HP:0007778 Neovascularization of peripheral and posterior retina OMIM:193235 CAPN5 726 HP:0000618 Blindness OMIM:193235 CAPN5 726 HP:0000006 Autosomal dominant inheritance OMIM:193235 CAPN5 726 HP:0000541 Retinal detachment OMIM:193235 CAPN5 726 HP:0000512 Abnormal electroretinogram OMIM:193235 CAPN5 726 HP:0007658 Large hyperpigmented retinal spots OMIM:193235 CAPN5 726 HP:0007902 Vitreous hemorrhage OMIM:193235 CAPN5 726 HP:0000554 Uveitis ORPHANET:85193 DKK1 22943 HP:0001288 Gait disturbance ORPHANET:85193 DKK1 22943 HP:0002653 Bone pain ORPHANET:85193 DKK1 22943 HP:0002757 Recurrent fractures ORPHANET:85193 DKK1 22943 HP:0004349 Reduced bone mineral density ORPHANET:85193 DKK1 22943 HP:0002808 Kyphosis ORPHANET:85193 WNT1 7471 HP:0001288 Gait disturbance ORPHANET:85193 WNT1 7471 HP:0002653 Bone pain ORPHANET:85193 WNT1 7471 HP:0002757 Recurrent fractures ORPHANET:85193 WNT1 7471 HP:0004349 Reduced bone mineral density ORPHANET:85193 WNT1 7471 HP:0002808 Kyphosis ORPHANET:85193 WNT3A 89780 HP:0001288 Gait disturbance ORPHANET:85193 WNT3A 89780 HP:0002653 Bone pain ORPHANET:85193 WNT3A 89780 HP:0002757 Recurrent fractures ORPHANET:85193 WNT3A 89780 HP:0004349 Reduced bone mineral density ORPHANET:85193 WNT3A 89780 HP:0002808 Kyphosis ORPHANET:85193 LRP5 4041 HP:0001288 Gait disturbance ORPHANET:85193 LRP5 4041 HP:0002653 Bone pain ORPHANET:85193 LRP5 4041 HP:0002757 Recurrent fractures ORPHANET:85193 LRP5 4041 HP:0004349 Reduced bone mineral density ORPHANET:85193 LRP5 4041 HP:0002808 Kyphosis OMIM:135100 ACVR1 90 HP:0011988 Ectopic ossification in tendon tissue OMIM:135100 ACVR1 90 HP:0008449 Progressive cervical vertebral spine fusion OMIM:135100 ACVR1 90 HP:0006429 Broad femoral neck OMIM:135100 ACVR1 90 HP:0004209 Clinodactyly of the 5th finger OMIM:135100 ACVR1 90 HP:0000687 Widely spaced teeth OMIM:135100 ACVR1 90 HP:0000407 Sensorineural hearing impairment OMIM:135100 ACVR1 90 HP:0011987 Ectopic ossification in muscle tissue OMIM:135100 ACVR1 90 HP:0001376 Limitation of joint mobility OMIM:135100 ACVR1 90 HP:0011989 Ectopic ossification in ligament tissue OMIM:135100 ACVR1 90 HP:0010766 Ectopic calcification OMIM:135100 ACVR1 90 HP:0010109 Short hallux OMIM:135100 ACVR1 90 HP:0002878 Respiratory failure OMIM:135100 ACVR1 90 HP:0004629 Small cervical vertebral bodies OMIM:135100 ACVR1 90 HP:0003016 Metaphyseal widening OMIM:135100 ACVR1 90 HP:0001250 Seizures OMIM:135100 ACVR1 90 HP:0003306 Spinal rigidity OMIM:135100 ACVR1 90 HP:0010054 Abnormality of the first metatarsal bone OMIM:135100 ACVR1 90 HP:0001822 Hallux valgus OMIM:135100 ACVR1 90 HP:0000951 Abnormality of the skin OMIM:135100 ACVR1 90 HP:0001903 Anemia OMIM:135100 ACVR1 90 HP:0002093 Respiratory insufficiency OMIM:135100 ACVR1 90 HP:0010034 Short 1st metacarpal OMIM:135100 ACVR1 90 HP:0100543 Cognitive impairment OMIM:135100 ACVR1 90 HP:0001249 Intellectual disability OMIM:135100 ACVR1 90 HP:0000006 Autosomal dominant inheritance OMIM:135100 ACVR1 90 HP:0000501 Glaucoma OMIM:135100 ACVR1 90 HP:0001596 Alopecia OMIM:135100 ACVR1 90 HP:0000405 Conductive hearing impairment OMIM:135100 ACVR1 90 HP:0002650 Scoliosis OMIM:168601 SNCA 6622 HP:0001300 Parkinsonism OMIM:168601 SNCA 6622 HP:0002172 Postural instability OMIM:168601 SNCA 6622 HP:0001332 Dystonia OMIM:168601 SNCA 6622 HP:0001336 Myoclonus OMIM:168601 SNCA 6622 HP:0002067 Bradykinesia OMIM:168601 SNCA 6622 HP:0002362 Shuffling gait OMIM:168601 SNCA 6622 HP:0001268 Mental deterioration OMIM:168601 SNCA 6622 HP:0002322 Resting tremor OMIM:168601 SNCA 6622 HP:0002375 Hypokinesia OMIM:168601 SNCA 6622 HP:0001260 Dysarthria OMIM:168601 SNCA 6622 HP:0002360 Sleep disturbance OMIM:168601 SNCA 6622 HP:0000012 Urinary urgency OMIM:168601 SNCA 6622 HP:0002015 Dysphagia OMIM:168601 SNCA 6622 HP:0002063 Rigidity OMIM:612644 GJB3 2707 HP:0000006 Autosomal dominant inheritance OMIM:612644 GJB3 2707 HP:0005101 High-frequency hearing impairment OMIM:613662 POLG 5428 HP:0002024 Malabsorption OMIM:613662 POLG 5428 HP:0003270 Abdominal distention OMIM:613662 POLG 5428 HP:0001251 Ataxia OMIM:613662 POLG 5428 HP:0000007 Autosomal recessive inheritance OMIM:613662 POLG 5428 HP:0004395 Malnutrition OMIM:613662 POLG 5428 HP:0004326 Cachexia OMIM:613662 POLG 5428 HP:0002027 Abdominal pain OMIM:613662 POLG 5428 HP:0001263 Global developmental delay OMIM:613662 POLG 5428 HP:0003434 Sensory ataxic neuropathy OMIM:613662 POLG 5428 HP:0003324 Generalized muscle weakness OMIM:613662 POLG 5428 HP:0001252 Muscular hypotonia OMIM:613662 POLG 5428 HP:0003737 Mitochondrial myopathy OMIM:613662 POLG 5428 HP:0001250 Seizures OMIM:613662 POLG 5428 HP:0000590 Progressive external ophthalmoplegia OMIM:613662 POLG 5428 HP:0002579 Gastrointestinal dysmotility OMIM:613662 POLG 5428 HP:0002500 Abnormality of the cerebral white matter OMIM:613662 POLG 5428 HP:0000365 Hearing impairment OMIM:613662 POLG 5428 HP:0003676 Progressive disorder OMIM:613662 POLG 5428 HP:0002019 Constipation OMIM:613662 POLG 5428 HP:0003828 Variable expressivity OMIM:613662 POLG 5428 HP:0003593 Infantile onset OMIM:610706 FGF3 2248 HP:0000276 Long face OMIM:610706 FGF3 2248 HP:0011069 Increased number of teeth OMIM:610706 FGF3 2248 HP:0000307 Pointed chin OMIM:610706 FGF3 2248 HP:0040080 Anteverted ears OMIM:610706 FGF3 2248 HP:0010609 Skin tags OMIM:610706 FGF3 2248 HP:0000347 Micrognathia OMIM:610706 FGF3 2248 HP:0011372 Aplasia of the inner ear OMIM:610706 FGF3 2248 HP:0000098 Tall stature OMIM:610706 FGF3 2248 HP:0000540 Hypermetropia OMIM:610706 FGF3 2248 HP:0000691 Microdontia OMIM:610706 FGF3 2248 HP:0000494 Downslanted palpebral fissures OMIM:610706 FGF3 2248 HP:0000664 Synophrys OMIM:610706 FGF3 2248 HP:0005105 Abnormal nasal morphology OMIM:610706 FGF3 2248 HP:0005288 Abnormality of the nares OMIM:610706 FGF3 2248 HP:0009804 Reduced number of teeth OMIM:610706 FGF3 2248 HP:0000431 Wide nasal bridge OMIM:610706 FGF3 2248 HP:0011266 Microtia, first degree OMIM:610706 FGF3 2248 HP:0000316 Hypertelorism OMIM:610706 FGF3 2248 HP:0002194 Delayed gross motor development OMIM:610706 FGF3 2248 HP:0000486 Strabismus OMIM:610706 FGF3 2248 HP:0000698 Conical tooth OMIM:610706 FGF3 2248 HP:0001291 Abnormality of the cranial nerves OMIM:610706 FGF3 2248 HP:0000384 Preauricular skin tag OMIM:610706 FGF3 2248 HP:0000687 Widely spaced teeth OMIM:610706 FGF3 2248 HP:0011476 Profound sensorineural hearing impairment OMIM:610706 FGF3 2248 HP:0009908 Anterior creases of earlobe OMIM:610706 FGF3 2248 HP:0000007 Autosomal recessive inheritance OMIM:150699 HMGA2 8091 HP:0000006 Autosomal dominant inheritance OMIM:150699 HMGA2 8091 HP:0001428 Somatic mutation OMIM:150699 HMGA2 8091 HP:0000131 Uterine leiomyoma ORPHANET:777 ZNF711 7552 HP:0100543 Cognitive impairment ORPHANET:777 UPF3B 65109 HP:0100543 Cognitive impairment ORPHANET:777 MID2 11043 HP:0100543 Cognitive impairment ORPHANET:777 HCFC1 3054 HP:0100543 Cognitive impairment ORPHANET:777 RAB39B 116442 HP:0100543 Cognitive impairment ORPHANET:777 RPS6KA3 6197 HP:0100543 Cognitive impairment ORPHANET:777 IL1RAPL1 11141 HP:0100543 Cognitive impairment ORPHANET:777 ZNF41 7592 HP:0100543 Cognitive impairment ORPHANET:777 IQSEC2 23096 HP:0100543 Cognitive impairment ORPHANET:777 MECP2 4204 HP:0100543 Cognitive impairment ORPHANET:777 DLG3 1741 HP:0100543 Cognitive impairment ORPHANET:777 ZNF674 641339 HP:0100543 Cognitive impairment ORPHANET:777 USP9X 8239 HP:0100543 Cognitive impairment ORPHANET:777 MED12 9968 HP:0100543 Cognitive impairment ORPHANET:777 AGTR2 186 HP:0100543 Cognitive impairment ORPHANET:777 FTSJ1 24140 HP:0100543 Cognitive impairment ORPHANET:777 TSPAN7 7102 HP:0100543 Cognitive impairment ORPHANET:777 ARX 170302 HP:0100543 Cognitive impairment ORPHANET:777 ZNF81 347344 HP:0100543 Cognitive impairment ORPHANET:777 ARHGEF6 9459 HP:0100543 Cognitive impairment ORPHANET:777 GDI1 2664 HP:0100543 Cognitive impairment ORPHANET:777 PTCHD1 139411 HP:0100543 Cognitive impairment ORPHANET:777 DMD 1756 HP:0100543 Cognitive impairment ORPHANET:777 MAGT1 84061 HP:0100543 Cognitive impairment ORPHANET:777 PAK3 5063 HP:0100543 Cognitive impairment ORPHANET:777 ALG13 79868 HP:0100543 Cognitive impairment ORPHANET:777 SYP 6855 HP:0100543 Cognitive impairment ORPHANET:777 ACSL4 2182 HP:0100543 Cognitive impairment OMIM:604168 CTDP1 9150 HP:0011096 Peripheral demyelination OMIM:604168 CTDP1 9150 HP:0000518 Cataract OMIM:604168 CTDP1 9150 HP:0002120 Cerebral cortical atrophy OMIM:604168 CTDP1 9150 HP:0001999 Abnormal facial shape OMIM:604168 CTDP1 9150 HP:0005105 Abnormal nasal morphology OMIM:604168 CTDP1 9150 HP:0000762 Decreased nerve conduction velocity OMIM:604168 CTDP1 9150 HP:0008942 Acute rhabdomyolysis OMIM:604168 CTDP1 9150 HP:0000786 Primary amenorrhea OMIM:604168 CTDP1 9150 HP:0002119 Ventriculomegaly OMIM:604168 CTDP1 9150 HP:0001263 Global developmental delay OMIM:604168 CTDP1 9150 HP:0000639 Nystagmus OMIM:604168 CTDP1 9150 HP:0000276 Long face OMIM:604168 CTDP1 9150 HP:0002059 Cerebral atrophy OMIM:604168 CTDP1 9150 HP:0007182 Peripheral hypomyelination OMIM:604168 CTDP1 9150 HP:0003487 Babinski sign OMIM:604168 CTDP1 9150 HP:0004322 Short stature OMIM:604168 CTDP1 9150 HP:0000482 Microcornea OMIM:604168 CTDP1 9150 HP:0001762 Talipes equinovarus OMIM:604168 CTDP1 9150 HP:0002072 Chorea OMIM:604168 CTDP1 9150 HP:0004349 Reduced bone mineral density OMIM:604168 CTDP1 9150 HP:0001761 Pes cavus OMIM:604168 CTDP1 9150 HP:0100490 Camptodactyly of finger OMIM:604168 CTDP1 9150 HP:0000764 Peripheral axonal degeneration OMIM:604168 CTDP1 9150 HP:0000486 Strabismus OMIM:604168 CTDP1 9150 HP:0000078 Abnormality of the genital system OMIM:604168 CTDP1 9150 HP:0002808 Kyphosis OMIM:604168 CTDP1 9150 HP:0003431 Decreased motor nerve conduction velocity OMIM:604168 CTDP1 9150 HP:0002650 Scoliosis OMIM:604168 CTDP1 9150 HP:0008734 Decreased testicular size OMIM:604168 CTDP1 9150 HP:0100543 Cognitive impairment OMIM:604168 CTDP1 9150 HP:0002751 Kyphoscoliosis OMIM:604168 CTDP1 9150 HP:0007178 Motor polyneuropathy OMIM:604168 CTDP1 9150 HP:0001249 Intellectual disability OMIM:604168 CTDP1 9150 HP:0001511 Intrauterine growth retardation OMIM:604168 CTDP1 9150 HP:0008214 Decreased serum estradiol OMIM:604168 CTDP1 9150 HP:0000044 Hypogonadotrophic hypogonadism OMIM:604168 CTDP1 9150 HP:0000519 Congenital cataract OMIM:604168 CTDP1 9150 HP:0001270 Motor delay OMIM:604168 CTDP1 9150 HP:0000164 Abnormality of the teeth OMIM:604168 CTDP1 9150 HP:0000007 Autosomal recessive inheritance OMIM:604168 CTDP1 9150 HP:0010620 Malar prominence OMIM:604168 CTDP1 9150 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:604168 CTDP1 9150 HP:0000499 Abnormality of the eyelashes OMIM:604168 CTDP1 9150 HP:0000815 Hypergonadotropic hypogonadism OMIM:604168 CTDP1 9150 HP:0000347 Micrognathia OMIM:604168 CTDP1 9150 HP:0003593 Infantile onset OMIM:604168 CTDP1 9150 HP:0100022 Abnormality of movement OMIM:604168 CTDP1 9150 HP:0001251 Ataxia OMIM:604168 CTDP1 9150 HP:0002311 Incoordination OMIM:604168 CTDP1 9150 HP:0001171 Split hand OMIM:604168 CTDP1 9150 HP:0002816 Genu recurvatum OMIM:615387 TRAC 28755 HP:0003593 Infantile onset OMIM:615387 TRAC 28755 HP:0002716 Lymphadenopathy OMIM:615387 TRAC 28755 HP:0000007 Autosomal recessive inheritance OMIM:615387 TRAC 28755 HP:0002960 Autoimmunity OMIM:615387 TRAC 28755 HP:0002719 Recurrent infections OMIM:615387 TRAC 28755 HP:0001508 Failure to thrive OMIM:615593 TNFRSF4 7293 HP:0001876 Pancytopenia OMIM:615593 TNFRSF4 7293 HP:0100726 Kaposi's sarcoma OMIM:615593 TNFRSF4 7293 HP:0000007 Autosomal recessive inheritance OMIM:615593 TNFRSF4 7293 HP:0004844 Coombs-positive hemolytic anemia OMIM:615593 TNFRSF4 7293 HP:0001744 Splenomegaly OMIM:217080 CNNM4 26504 HP:0000543 Optic disc pallor OMIM:217080 CNNM4 26504 HP:0000670 Carious teeth OMIM:217080 CNNM4 26504 HP:0007703 Abnormal retinal pigmentation OMIM:217080 CNNM4 26504 HP:0000613 Photophobia OMIM:217080 CNNM4 26504 HP:0000548 Cone-rod dystrophy OMIM:217080 CNNM4 26504 HP:0000551 Abnormality of color vision OMIM:217080 CNNM4 26504 HP:0000662 Night blindness OMIM:217080 CNNM4 26504 HP:0000505 Visual impairment OMIM:217080 CNNM4 26504 HP:0000639 Nystagmus OMIM:217080 CNNM4 26504 HP:0000007 Autosomal recessive inheritance OMIM:217080 CNNM4 26504 HP:0007803 Monochromacy OMIM:217080 CNNM4 26504 HP:0000705 Amelogenesis imperfecta OMIM:217080 CNNM4 26504 HP:0000648 Optic atrophy OMIM:217080 CNNM4 26504 HP:0011073 Abnormality of dental color OMIM:217080 CNNM4 26504 HP:0000682 Abnormality of dental enamel OMIM:616230 CERS1 10715 HP:0000726 Dementia OMIM:616230 CERS1 10715 HP:0001249 Intellectual disability OMIM:616230 CERS1 10715 HP:0002069 Generalized tonic-clonic seizures OMIM:616032 ANLN 54443 HP:0003774 Stage 5 chronic kidney disease OMIM:616032 ANLN 54443 HP:0000097 Focal segmental glomerulosclerosis OMIM:616032 ANLN 54443 HP:0000100 Nephrotic syndrome OMIM:616032 ANLN 54443 HP:0000093 Proteinuria OMIM:236792 L2HGDH 79944 HP:0002071 Abnormality of extrapyramidal motor function OMIM:236792 L2HGDH 79944 HP:0002357 Dysphasia OMIM:236792 L2HGDH 79944 HP:0000648 Optic atrophy OMIM:236792 L2HGDH 79944 HP:0001252 Muscular hypotonia OMIM:236792 L2HGDH 79944 HP:0000486 Strabismus OMIM:236792 L2HGDH 79944 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:236792 L2HGDH 79944 HP:0002171 Gliosis OMIM:236792 L2HGDH 79944 HP:0010864 Intellectual disability, severe OMIM:236792 L2HGDH 79944 HP:0007256 Abnormal pyramidal signs OMIM:236792 L2HGDH 79944 HP:0001272 Cerebellar atrophy OMIM:236792 L2HGDH 79944 HP:0001285 Spastic tetraparesis OMIM:236792 L2HGDH 79944 HP:0001276 Hypertonia OMIM:236792 L2HGDH 79944 HP:0002376 Developmental regression OMIM:236792 L2HGDH 79944 HP:0002167 Neurological speech impairment OMIM:236792 L2HGDH 79944 HP:0000256 Macrocephaly OMIM:236792 L2HGDH 79944 HP:0002062 Morphological abnormality of the pyramidal tract OMIM:236792 L2HGDH 79944 HP:0040147 L-2-hydroxyglutaric acidemia OMIM:236792 L2HGDH 79944 HP:0000639 Nystagmus OMIM:236792 L2HGDH 79944 HP:0007258 Severe demyelination of the white matter OMIM:236792 L2HGDH 79944 HP:0000007 Autosomal recessive inheritance OMIM:236792 L2HGDH 79944 HP:0040144 L-2-hydroxyglutaric aciduria OMIM:236792 L2HGDH 79944 HP:0002352 Leukoencephalopathy OMIM:236792 L2HGDH 79944 HP:0003593 Infantile onset OMIM:236792 L2HGDH 79944 HP:0001250 Seizures OMIM:236792 L2HGDH 79944 HP:0002383 Encephalitis OMIM:236792 L2HGDH 79944 HP:0002283 Global brain atrophy OMIM:236792 L2HGDH 79944 HP:0006887 Intellectual disability, progressive OMIM:236792 L2HGDH 79944 HP:0100543 Cognitive impairment OMIM:236792 L2HGDH 79944 HP:0000365 Hearing impairment OMIM:236792 L2HGDH 79944 HP:0004375 Neoplasm of the nervous system OMIM:236792 L2HGDH 79944 HP:0007371 Corpus callosum atrophy OMIM:236792 L2HGDH 79944 HP:0000708 Behavioral abnormality OMIM:201300 WNK1 65125 HP:0000224 Decreased taste sensation OMIM:201300 WNK1 65125 HP:0000478 Abnormality of the eye OMIM:201300 WNK1 65125 HP:0000762 Decreased nerve conduction velocity OMIM:201300 WNK1 65125 HP:0003448 Decreased sensory nerve conduction velocity OMIM:201300 WNK1 65125 HP:0009771 Osteolytic defects of the phalanges of the hand OMIM:201300 WNK1 65125 HP:0008872 Feeding difficulties in infancy OMIM:201300 WNK1 65125 HP:0001252 Muscular hypotonia OMIM:201300 WNK1 65125 HP:0000007 Autosomal recessive inheritance OMIM:201300 WNK1 65125 HP:0006121 Acral ulceration leading to autoamputation of digits OMIM:201300 WNK1 65125 HP:0001842 Acroosteolysis (feet) OMIM:201300 WNK1 65125 HP:0003593 Infantile onset OMIM:201300 WNK1 65125 HP:0002020 Gastroesophageal reflux OMIM:201300 WNK1 65125 HP:0003677 Slow progression OMIM:201300 WNK1 65125 HP:0001939 Abnormality of metabolism/homeostasis OMIM:201300 WNK1 65125 HP:0000970 Anhidrosis OMIM:201300 WNK1 65125 HP:0001284 Areflexia OMIM:201300 WNK1 65125 HP:0009830 Peripheral neuropathy OMIM:201300 WNK1 65125 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:201300 WNK1 65125 HP:0001069 Episodic hyperhidrosis OMIM:201300 WNK1 65125 HP:0002661 Painless fractures due to injury OMIM:201300 WNK1 65125 HP:0001265 Hyporeflexia OMIM:201300 WNK1 65125 HP:0001818 Paronychia OMIM:614028 APOC3 345 HP:0012153 Hypotriglyceridemia OMIM:614028 APOC3 345 HP:0012184 Hyperalphalipoproteinemia OMIM:614028 APOC3 345 HP:0003563 Hypobetalipoproteinemia OMIM:605472 PDZD7 79955 HP:0000510 Retinitis pigmentosa OMIM:605472 PDZD7 79955 HP:0000007 Autosomal recessive inheritance OMIM:605472 PDZD7 79955 HP:0008527 Congenital sensorineural hearing impairment OMIM:605472 ADGRV1 84059 HP:0000510 Retinitis pigmentosa OMIM:605472 ADGRV1 84059 HP:0000007 Autosomal recessive inheritance OMIM:605472 ADGRV1 84059 HP:0008527 Congenital sensorineural hearing impairment OMIM:120433 YAP1 10413 HP:0007759 Opacification of the corneal stroma OMIM:120433 YAP1 10413 HP:0001249 Intellectual disability OMIM:120433 YAP1 10413 HP:0000508 Ptosis OMIM:120433 YAP1 10413 HP:0000612 Iris coloboma OMIM:120433 YAP1 10413 HP:0000518 Cataract OMIM:120433 YAP1 10413 HP:0000639 Nystagmus OMIM:120433 YAP1 10413 HP:0000568 Microphthalmos OMIM:120433 YAP1 10413 HP:0000790 Hematuria OMIM:120433 YAP1 10413 HP:0000006 Autosomal dominant inheritance OMIM:120433 YAP1 10413 HP:0100543 Cognitive impairment OMIM:120433 YAP1 10413 HP:0000541 Retinal detachment OMIM:120433 YAP1 10413 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:120433 YAP1 10413 HP:0000648 Optic atrophy OMIM:120433 YAP1 10413 HP:0000202 Oral cleft OMIM:120433 YAP1 10413 HP:0000407 Sensorineural hearing impairment OMIM:120433 YAP1 10413 HP:0000567 Chorioretinal coloboma OMIM:120433 YAP1 10413 HP:0000501 Glaucoma OMIM:120433 YAP1 10413 HP:0000204 Cleft upper lip OMIM:120433 YAP1 10413 HP:0000627 Posterior embryotoxon OMIM:120433 YAP1 10413 HP:0000175 Cleft palate OMIM:120433 YAP1 10413 HP:0000505 Visual impairment OMIM:120433 YAP1 10413 HP:0000486 Strabismus OMIM:604777 CYP4F22 126410 HP:0007479 Congenital nonbullous ichthyosiform erythroderma OMIM:604777 CYP4F22 126410 HP:0001927 Acanthocytosis OMIM:604777 CYP4F22 126410 HP:0001019 Erythroderma OMIM:604777 CYP4F22 126410 HP:0000982 Palmoplantar keratoderma OMIM:604777 CYP4F22 126410 HP:0040162 Orthokeratosis OMIM:604777 CYP4F22 126410 HP:0001036 Parakeratosis OMIM:604777 CYP4F22 126410 HP:0000007 Autosomal recessive inheritance OMIM:256700 NME1 4830 HP:0003745 Sporadic OMIM:256700 NME1 4830 HP:0003005 Ganglioneuroma OMIM:256700 NME1 4830 HP:0000822 Hypertension OMIM:256700 NME1 4830 HP:0002277 Horner syndrome OMIM:256700 NME1 4830 HP:0002014 Diarrhea OMIM:256700 NME1 4830 HP:0200036 Skin nodule OMIM:256700 NME1 4830 HP:0001508 Failure to thrive OMIM:256700 NME1 4830 HP:0002027 Abdominal pain OMIM:256700 NME1 4830 HP:0001824 Weight loss OMIM:256700 NME1 4830 HP:0006747 Ganglioneuroblastoma OMIM:256700 NME1 4830 HP:0001336 Myoclonus OMIM:256700 NME1 4830 HP:0001945 Fever OMIM:256700 NME1 4830 HP:0010543 Opsoclonus OMIM:256700 NME1 4830 HP:0011979 Elevated urinary dopamine OMIM:256700 NME1 4830 HP:0002653 Bone pain OMIM:256700 NME1 4830 HP:0000765 Abnormality of the thorax OMIM:256700 NME1 4830 HP:0011978 Elevated urinary vanillylmandelic acid OMIM:256700 NME1 4830 HP:0001903 Anemia OMIM:256700 NME1 4830 HP:0002176 Spinal cord compression OMIM:256700 NME1 4830 HP:0000006 Autosomal dominant inheritance OMIM:256700 NME1 4830 HP:0001251 Ataxia OMIM:256700 NME1 4830 HP:0003006 Neuroblastoma OMIM:256700 NME1 4830 HP:0003829 Incomplete penetrance OMIM:256700 NME1 4830 HP:0001425 Heterogeneous OMIM:256700 NME1 4830 HP:0011977 Elevated urinary homovanillic acid OMIM:116860 KRIT1 889 HP:0007797 Retinal vascular malformation OMIM:116860 KRIT1 889 HP:0003011 Abnormality of the musculature OMIM:116860 KRIT1 889 HP:0001425 Heterogeneous OMIM:116860 KRIT1 889 HP:0006576 Hepatic vascular malformations OMIM:116860 KRIT1 889 HP:0002170 Intracranial hemorrhage OMIM:116860 KRIT1 889 HP:0000006 Autosomal dominant inheritance OMIM:116860 KRIT1 889 HP:0003829 Incomplete penetrance OMIM:116860 KRIT1 889 HP:0002315 Headache OMIM:116860 KRIT1 889 HP:0002514 Cerebral calcification OMIM:116860 KRIT1 889 HP:0001250 Seizures OMIM:116860 KRIT1 889 HP:0000951 Abnormality of the skin OMIM:604129 COL7A1 1294 HP:0001030 Fragile skin OMIM:604129 COL7A1 1294 HP:0001056 Milia OMIM:604129 COL7A1 1294 HP:0000963 Thin skin OMIM:604129 COL7A1 1294 HP:0008066 Abnormal blistering of the skin OMIM:604129 COL7A1 1294 HP:0000989 Pruritus OMIM:604129 COL7A1 1294 HP:0002164 Nail dysplasia OMIM:604129 COL7A1 1294 HP:0000007 Autosomal recessive inheritance OMIM:604129 COL7A1 1294 HP:0000987 Atypical scarring of skin OMIM:604129 COL7A1 1294 HP:0008404 Nail dystrophy OMIM:604129 COL7A1 1294 HP:0001597 Abnormality of the nail OMIM:604129 COL7A1 1294 HP:0100725 Lichenification OMIM:604129 COL7A1 1294 HP:0000006 Autosomal dominant inheritance OMIM:252650 MCOLN1 57192 HP:0002167 Neurological speech impairment OMIM:252650 MCOLN1 57192 HP:0000613 Photophobia OMIM:252650 MCOLN1 57192 HP:0002353 EEG abnormality OMIM:252650 MCOLN1 57192 HP:0007759 Opacification of the corneal stroma OMIM:252650 MCOLN1 57192 HP:0004345 Abnormality of ganglioside metabolism OMIM:252650 MCOLN1 57192 HP:0000488 Retinopathy OMIM:252650 MCOLN1 57192 HP:0000982 Palmoplantar keratoderma OMIM:252650 MCOLN1 57192 HP:0000486 Strabismus OMIM:252650 MCOLN1 57192 HP:0003487 Babinski sign OMIM:252650 MCOLN1 57192 HP:0005105 Abnormal nasal morphology OMIM:252650 MCOLN1 57192 HP:0001252 Muscular hypotonia OMIM:252650 MCOLN1 57192 HP:0000007 Autosomal recessive inheritance OMIM:252650 MCOLN1 57192 HP:0007281 Developmental stagnation OMIM:252650 MCOLN1 57192 HP:0001438 Abnormality of the abdomen OMIM:252650 MCOLN1 57192 HP:0000648 Optic atrophy OMIM:252650 MCOLN1 57192 HP:0000691 Microdontia OMIM:252650 MCOLN1 57192 HP:0001288 Gait disturbance OMIM:252650 MCOLN1 57192 HP:0002510 Spastic tetraplegia OMIM:252650 MCOLN1 57192 HP:0002311 Incoordination OMIM:252650 MCOLN1 57192 HP:0001347 Hyperreflexia OMIM:252650 MCOLN1 57192 HP:0000654 Decreased electroretinogram (ERG) amplitude OMIM:252650 MCOLN1 57192 HP:0001272 Cerebellar atrophy OMIM:252650 MCOLN1 57192 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature OMIM:252650 MCOLN1 57192 HP:0002816 Genu recurvatum OMIM:252650 MCOLN1 57192 HP:0000252 Microcephaly OMIM:252650 MCOLN1 57192 HP:0007703 Abnormal retinal pigmentation OMIM:252650 MCOLN1 57192 HP:0000512 Abnormal electroretinogram OMIM:252650 MCOLN1 57192 HP:0006989 Dysplastic corpus callosum OMIM:252650 MCOLN1 57192 HP:0001249 Intellectual disability OMIM:252650 MCOLN1 57192 HP:0001344 Absent speech OMIM:252650 MCOLN1 57192 HP:0000639 Nystagmus OMIM:252650 MCOLN1 57192 HP:0011020 Abnormality of mucopolysaccharide metabolism OMIM:252650 MCOLN1 57192 HP:0007893 Progressive retinal degeneration OMIM:252650 MCOLN1 57192 HP:0003593 Infantile onset OMIM:252650 MCOLN1 57192 HP:0007266 Cerebral dysmyelination OMIM:252650 MCOLN1 57192 HP:0001332 Dystonia OMIM:252650 MCOLN1 57192 HP:0000232 Everted lower lip vermilion OMIM:252650 MCOLN1 57192 HP:0000341 Narrow forehead OMIM:252650 MCOLN1 57192 HP:0000280 Coarse facial features OMIM:252650 MCOLN1 57192 HP:0100543 Cognitive impairment OMIM:604715 SLC6A2 6530 HP:0000006 Autosomal dominant inheritance OMIM:604715 SLC6A2 6530 HP:0012173 Orthostatic tachycardia OMIM:610978 NKX2-1 7080 HP:0001332 Dystonia OMIM:610978 NKX2-1 7080 HP:0002098 Respiratory distress OMIM:610978 NKX2-1 7080 HP:0001266 Choreoathetosis OMIM:610978 NKX2-1 7080 HP:0003577 Congenital onset OMIM:610978 NKX2-1 7080 HP:0000851 Congenital hypothyroidism OMIM:610978 NKX2-1 7080 HP:0002925 Thyroid-stimulating hormone excess OMIM:610978 NKX2-1 7080 HP:0002643 Neonatal respiratory distress OMIM:610978 NKX2-1 7080 HP:0001263 Global developmental delay OMIM:610978 NKX2-1 7080 HP:0002360 Sleep disturbance OMIM:610978 NKX2-1 7080 HP:0001252 Muscular hypotonia OMIM:610978 NKX2-1 7080 HP:0001260 Dysarthria OMIM:610978 NKX2-1 7080 HP:0001270 Motor delay OMIM:610978 NKX2-1 7080 HP:0001251 Ataxia OMIM:610978 NKX2-1 7080 HP:0002099 Asthma OMIM:610978 NKX2-1 7080 HP:0002205 Recurrent respiratory infections OMIM:610978 NKX2-1 7080 HP:0004760 Congenital septal defect OMIM:610978 NKX2-1 7080 HP:0002355 Difficulty walking OMIM:610978 NKX2-1 7080 HP:0008223 Compensated hypothyroidism OMIM:610978 NKX2-1 7080 HP:0000006 Autosomal dominant inheritance OMIM:614744 HOXB1 3211 HP:0000358 Posteriorly rotated ears OMIM:614744 HOXB1 3211 HP:0000319 Smooth philtrum OMIM:614744 HOXB1 3211 HP:0000369 Low-set ears OMIM:614744 HOXB1 3211 HP:0011800 Midface retrusion OMIM:614744 HOXB1 3211 HP:0003680 Nonprogressive disorder OMIM:614744 HOXB1 3211 HP:0000463 Anteverted nares OMIM:614744 HOXB1 3211 HP:0000007 Autosomal recessive inheritance OMIM:614744 HOXB1 3211 HP:0010628 Facial palsy OMIM:614744 HOXB1 3211 HP:0000347 Micrognathia OMIM:614744 HOXB1 3211 HP:0000565 Esotropia OMIM:613563 CBL 867 HP:0000006 Autosomal dominant inheritance OMIM:613563 CBL 867 HP:0000470 Short neck OMIM:613563 CBL 867 HP:0001650 Aortic valve stenosis OMIM:613563 CBL 867 HP:0001382 Joint hypermobility OMIM:613563 CBL 867 HP:0006610 Wide intermamillary distance OMIM:613563 CBL 867 HP:0002002 Deep philtrum OMIM:613563 CBL 867 HP:0000286 Epicanthus OMIM:613563 CBL 867 HP:0000358 Posteriorly rotated ears OMIM:613563 CBL 867 HP:0012209 Juvenile myelomonocytic leukemia OMIM:613563 CBL 867 HP:0008070 Sparse hair OMIM:613563 CBL 867 HP:0000325 Triangular face OMIM:613563 CBL 867 HP:0005280 Depressed nasal bridge OMIM:613563 CBL 867 HP:0001647 Bicuspid aortic valve OMIM:613563 CBL 867 HP:0000400 Macrotia OMIM:613563 CBL 867 HP:0001653 Mitral regurgitation OMIM:613563 CBL 867 HP:0000369 Low-set ears OMIM:613563 CBL 867 HP:0000767 Pectus excavatum OMIM:613563 CBL 867 HP:0000316 Hypertelorism OMIM:613563 CBL 867 HP:0000508 Ptosis OMIM:613563 CBL 867 HP:0001263 Global developmental delay OMIM:300953 RNF113A 7737 HP:0005328 Progeroid facial appearance OMIM:300953 RNF113A 7737 HP:0002217 Slow-growing hair OMIM:300953 RNF113A 7737 HP:0004313 Hypogammaglobulinemia OMIM:300953 RNF113A 7737 HP:0000965 Cutis marmorata OMIM:300953 RNF113A 7737 HP:0000348 High forehead OMIM:300953 RNF113A 7737 HP:0000252 Microcephaly OMIM:300953 RNF113A 7737 HP:0000303 Mandibular prognathia OMIM:300953 RNF113A 7737 HP:0001305 Dandy-Walker malformation OMIM:300953 RNF113A 7737 HP:0008070 Sparse hair OMIM:300953 RNF113A 7737 HP:0006313 Widely spaced primary teeth OMIM:300953 RNF113A 7737 HP:0001321 Cerebellar hypoplasia OMIM:300953 RNF113A 7737 HP:0002283 Global brain atrophy OMIM:300953 RNF113A 7737 HP:0000054 Micropenis OMIM:300953 RNF113A 7737 HP:0002719 Recurrent infections OMIM:300953 RNF113A 7737 HP:0004322 Short stature OMIM:300953 RNF113A 7737 HP:0001249 Intellectual disability OMIM:300953 RNF113A 7737 HP:0002299 Brittle hair OMIM:300953 RNF113A 7737 HP:0000154 Wide mouth OMIM:155240 RET 5979 HP:0002865 Medullary thyroid carcinoma OMIM:155240 RET 5979 HP:0000006 Autosomal dominant inheritance OMIM:155240 NTRK1 4914 HP:0002865 Medullary thyroid carcinoma OMIM:155240 NTRK1 4914 HP:0000006 Autosomal dominant inheritance OMIM:607842 TSHZ1 10194 HP:0000405 Conductive hearing impairment OMIM:607842 TSHZ1 10194 HP:0000413 Atresia of the external auditory canal OMIM:607842 TSHZ1 10194 HP:0000006 Autosomal dominant inheritance OMIM:607842 TSHZ1 10194 HP:0004409 Hyposmia OMIM:156500 COL10A1 1300 HP:0003301 Irregular vertebral endplates OMIM:156500 COL10A1 1300 HP:0006028 Metaphyseal cupping of metacarpals OMIM:156500 COL10A1 1300 HP:0002812 Coxa vara OMIM:156500 COL10A1 1300 HP:0000006 Autosomal dominant inheritance OMIM:156500 COL10A1 1300 HP:0003371 Enlargement of the proximal femoral epiphysis OMIM:156500 COL10A1 1300 HP:0005819 Short middle phalanx of finger OMIM:156500 COL10A1 1300 HP:0000347 Micrognathia OMIM:156500 COL10A1 1300 HP:0006414 Distal tibial bowing OMIM:156500 COL10A1 1300 HP:0009844 Broad middle phalanx of finger OMIM:156500 COL10A1 1300 HP:0002515 Waddling gait OMIM:156500 COL10A1 1300 HP:0006431 Proximal femoral metaphyseal abnormality OMIM:156500 COL10A1 1300 HP:0002007 Frontal bossing OMIM:156500 COL10A1 1300 HP:0001363 Craniosynostosis OMIM:156500 COL10A1 1300 HP:0008833 Irregular acetabular roof OMIM:156500 COL10A1 1300 HP:0009882 Short distal phalanx of finger OMIM:156500 COL10A1 1300 HP:0002970 Genu varum OMIM:156500 COL10A1 1300 HP:0000365 Hearing impairment OMIM:156500 COL10A1 1300 HP:0003502 Mild short stature OMIM:156500 COL10A1 1300 HP:0005871 Metaphyseal chondrodysplasia OMIM:156500 COL10A1 1300 HP:0002980 Femoral bowing OMIM:156500 COL10A1 1300 HP:0003072 Hypercalcemia OMIM:156500 COL10A1 1300 HP:0009826 Limb undergrowth OMIM:156500 COL10A1 1300 HP:0004348 Abnormality of bone mineral density OMIM:156500 COL10A1 1300 HP:0001156 Brachydactyly syndrome OMIM:156500 COL10A1 1300 HP:0000926 Platyspondyly OMIM:156500 COL10A1 1300 HP:0006208 Metaphyseal cupping of proximal phalanges ORPHANET:93260 FGFR2 2263 HP:0003196 Short nose ORPHANET:93260 FGFR2 2263 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:93260 FGFR2 2263 HP:0100543 Cognitive impairment ORPHANET:93260 FGFR2 2263 HP:0000175 Cleft palate ORPHANET:93260 FGFR2 2263 HP:0002779 Tracheomalacia ORPHANET:93260 FGFR2 2263 HP:0000272 Malar flattening ORPHANET:93260 FGFR2 2263 HP:0001156 Brachydactyly syndrome ORPHANET:93260 FGFR2 2263 HP:0002093 Respiratory insufficiency ORPHANET:93260 FGFR2 2263 HP:0001250 Seizures ORPHANET:93260 FGFR2 2263 HP:0100589 Urogenital fistula ORPHANET:93260 FGFR2 2263 HP:0000413 Atresia of the external auditory canal ORPHANET:93260 FGFR2 2263 HP:0000316 Hypertelorism ORPHANET:93260 FGFR2 2263 HP:0000453 Choanal atresia ORPHANET:93260 FGFR2 2263 HP:0009602 Abnormality of thumb phalanx ORPHANET:93260 FGFR2 2263 HP:0002516 Increased intracranial pressure ORPHANET:93260 FGFR2 2263 HP:0009601 Aplasia/Hypoplasia of the thumb ORPHANET:93260 FGFR2 2263 HP:0000076 Vesicoureteral reflux ORPHANET:93260 FGFR2 2263 HP:0001770 Toe syndactyly ORPHANET:93260 FGFR2 2263 HP:0000348 High forehead ORPHANET:93260 FGFR2 2263 HP:0100542 Abnormal localization of kidney ORPHANET:93260 FGFR2 2263 HP:0002410 Aqueductal stenosis ORPHANET:93260 FGFR2 2263 HP:0010109 Short hallux ORPHANET:93260 FGFR2 2263 HP:0002648 Abnormality of calvarial morphology ORPHANET:93260 FGFR2 2263 HP:0001841 Preaxial foot polydactyly ORPHANET:93260 FGFR2 2263 HP:0000505 Visual impairment ORPHANET:93260 FGFR2 2263 HP:0005280 Depressed nasal bridge ORPHANET:93260 FGFR2 2263 HP:0000365 Hearing impairment ORPHANET:93260 FGFR2 2263 HP:0002566 Intestinal malrotation ORPHANET:93260 FGFR2 2263 HP:0006101 Finger syndactyly ORPHANET:93260 FGFR2 2263 HP:0001376 Limitation of joint mobility ORPHANET:93260 FGFR2 2263 HP:0000520 Proptosis ORPHANET:93260 FGFR2 2263 HP:0001601 Laryngomalacia ORPHANET:93260 FGFR2 2263 HP:0002308 Arnold-Chiari malformation OMIM:300888 IGSF1 3547 HP:0001419 X-linked recessive inheritance OMIM:300888 IGSF1 3547 HP:0000821 Hypothyroidism OMIM:616034 NADK2 133686 HP:0001263 Global developmental delay OMIM:616034 NADK2 133686 HP:0002445 Tetraplegia OMIM:616034 NADK2 133686 HP:0001257 Spasticity OMIM:616034 NADK2 133686 HP:0008315 Decreased plasma free carnitine OMIM:616034 NADK2 133686 HP:0001250 Seizures OMIM:616034 NADK2 133686 HP:0002161 Hyperlysinemia OMIM:616034 NADK2 133686 HP:0001266 Choreoathetosis OMIM:616034 NADK2 133686 HP:0100704 Cortical visual impairment OMIM:616034 NADK2 133686 HP:0001298 Encephalopathy OMIM:616034 NADK2 133686 HP:0000252 Microcephaly OMIM:616034 NADK2 133686 HP:0001508 Failure to thrive OMIM:616034 NADK2 133686 HP:0002059 Cerebral atrophy OMIM:616034 NADK2 133686 HP:0002415 Leukodystrophy OMIM:616034 NADK2 133686 HP:0001252 Muscular hypotonia OMIM:616034 NADK2 133686 HP:0002119 Ventriculomegaly OMIM:616034 NADK2 133686 HP:0000639 Nystagmus OMIM:616034 NADK2 133686 HP:0001332 Dystonia OMIM:610443 KANSL1 284058 HP:0005599 Hypopigmentation of hair OMIM:610443 KANSL1 284058 HP:0003302 Spondylolisthesis OMIM:610443 KANSL1 284058 HP:0001250 Seizures OMIM:610443 KANSL1 284058 HP:0002827 Hip dislocation OMIM:610443 KANSL1 284058 HP:0002021 Pyloric stenosis OMIM:610443 KANSL1 284058 HP:0000508 Ptosis OMIM:610443 KANSL1 284058 HP:0000964 Eczema OMIM:610443 KANSL1 284058 HP:0006006 Hypotrophy of the small hand muscles OMIM:610443 KANSL1 284058 HP:0000194 Open mouth OMIM:610443 KANSL1 284058 HP:0000581 Blepharophimosis OMIM:610443 KANSL1 284058 HP:0000252 Microcephaly OMIM:610443 KANSL1 284058 HP:0001671 Abnormality of the cardiac septa OMIM:610443 KANSL1 284058 HP:0010719 Abnormality of hair texture OMIM:610443 KANSL1 284058 HP:0001166 Arachnodactyly OMIM:610443 KANSL1 284058 HP:0002650 Scoliosis OMIM:610443 KANSL1 284058 HP:0005656 Positional foot deformity OMIM:610443 KANSL1 284058 HP:0000076 Vesicoureteral reflux OMIM:610443 KANSL1 284058 HP:0001466 Contiguous gene syndrome OMIM:610443 KANSL1 284058 HP:0001382 Joint hypermobility OMIM:610443 KANSL1 284058 HP:0001724 Aortic dilatation OMIM:610443 KANSL1 284058 HP:0000486 Strabismus OMIM:610443 KANSL1 284058 HP:0000540 Hypermetropia OMIM:610443 KANSL1 284058 HP:0001508 Failure to thrive OMIM:610443 KANSL1 284058 HP:0000400 Macrotia OMIM:610443 KANSL1 284058 HP:0040080 Anteverted ears OMIM:610443 KANSL1 284058 HP:0000601 Hypotelorism OMIM:610443 KANSL1 284058 HP:0000426 Prominent nasal bridge OMIM:610443 KANSL1 284058 HP:0002167 Neurological speech impairment OMIM:610443 KANSL1 284058 HP:0000691 Microdontia OMIM:610443 KANSL1 284058 HP:0005487 Prominent metopic ridge OMIM:610443 KANSL1 284058 HP:0100543 Cognitive impairment OMIM:610443 KANSL1 284058 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:610443 KANSL1 284058 HP:0002119 Ventriculomegaly OMIM:610443 KANSL1 284058 HP:0100627 Displacement of the external urethral meatus OMIM:610443 KANSL1 284058 HP:0000337 Broad forehead OMIM:610443 KANSL1 284058 HP:0000750 Delayed speech and language development OMIM:610443 KANSL1 284058 HP:0001611 Nasal speech OMIM:610443 KANSL1 284058 HP:0000218 High palate OMIM:610443 KANSL1 284058 HP:0008872 Feeding difficulties in infancy OMIM:610443 KANSL1 284058 HP:0006610 Wide intermamillary distance OMIM:610443 KANSL1 284058 HP:0000396 Overfolded helix OMIM:610443 KANSL1 284058 HP:0001647 Bicuspid aortic valve OMIM:610443 KANSL1 284058 HP:0000414 Bulbous nose OMIM:610443 KANSL1 284058 HP:0001518 Small for gestational age OMIM:610443 KANSL1 284058 HP:0000821 Hypothyroidism OMIM:610443 KANSL1 284058 HP:0003745 Sporadic OMIM:610443 KANSL1 284058 HP:0000276 Long face OMIM:610443 KANSL1 284058 HP:0000175 Cleft palate OMIM:610443 KANSL1 284058 HP:0008064 Ichthyosis OMIM:610443 KANSL1 284058 HP:0004322 Short stature OMIM:610443 KANSL1 284058 HP:0002465 Poor speech OMIM:610443 KANSL1 284058 HP:0001646 Abnormality of the aortic valve OMIM:610443 KANSL1 284058 HP:0009804 Reduced number of teeth OMIM:610443 KANSL1 284058 HP:0000682 Abnormality of dental enamel OMIM:610443 KANSL1 284058 HP:0002808 Kyphosis OMIM:610443 KANSL1 284058 HP:0000028 Cryptorchidism OMIM:610443 KANSL1 284058 HP:0001511 Intrauterine growth retardation OMIM:610443 KANSL1 284058 HP:0000518 Cataract OMIM:610443 KANSL1 284058 HP:0000767 Pectus excavatum OMIM:610443 KANSL1 284058 HP:0000431 Wide nasal bridge OMIM:610443 KANSL1 284058 HP:0000958 Dry skin OMIM:610443 KANSL1 284058 HP:0001263 Global developmental delay OMIM:610443 KANSL1 284058 HP:0000232 Everted lower lip vermilion OMIM:610443 KANSL1 284058 HP:0002948 Vertebral fusion OMIM:610443 KANSL1 284058 HP:0001385 Hip dysplasia OMIM:610443 KANSL1 284058 HP:0001631 Defect in the atrial septum OMIM:610443 KANSL1 284058 HP:0000447 Pear-shaped nose OMIM:610443 KANSL1 284058 HP:0001212 Prominent fingertip pads OMIM:610443 KANSL1 284058 HP:0001249 Intellectual disability OMIM:610443 KANSL1 284058 HP:0002705 High, narrow palate OMIM:610443 KANSL1 284058 HP:0011822 Broad chin OMIM:610443 KANSL1 284058 HP:0000280 Coarse facial features OMIM:610443 KANSL1 284058 HP:0003828 Variable expressivity OMIM:610443 KANSL1 284058 HP:0000204 Cleft upper lip OMIM:610443 KANSL1 284058 HP:0000348 High forehead OMIM:610443 KANSL1 284058 HP:0001629 Ventricular septal defect OMIM:610443 KANSL1 284058 HP:0001290 Generalized hypotonia OMIM:610443 KANSL1 284058 HP:0000126 Hydronephrosis OMIM:610443 KANSL1 284058 HP:0000687 Widely spaced teeth OMIM:610443 KANSL1 284058 HP:0000582 Upslanted palpebral fissure OMIM:610443 KANSL1 284058 HP:0000430 Underdeveloped nasal alae OMIM:610443 KANSL1 284058 HP:0001642 Pulmonic stenosis OMIM:610443 KANSL1 284058 HP:0100024 Conspicuously happy disposition OMIM:610443 KANSL1 284058 HP:0000189 Narrow palate OMIM:610443 KANSL1 284058 HP:0000006 Autosomal dominant inheritance OMIM:610443 KANSL1 284058 HP:0000960 Sacral dimple OMIM:610443 KANSL1 284058 HP:0000286 Epicanthus OMIM:610443 KANSL1 284058 HP:0004283 Narrow palm OMIM:610756 ERCC2 2068 HP:0003683 Large beaked nose OMIM:610756 ERCC2 2068 HP:0000046 Scrotal hypoplasia OMIM:610756 ERCC2 2068 HP:0000490 Deeply set eye OMIM:610756 ERCC2 2068 HP:0001263 Global developmental delay OMIM:610756 ERCC2 2068 HP:0100490 Camptodactyly of finger OMIM:610756 ERCC2 2068 HP:0000252 Microcephaly OMIM:610756 ERCC2 2068 HP:0003819 Death in childhood OMIM:610756 ERCC2 2068 HP:0001511 Intrauterine growth retardation OMIM:610756 ERCC2 2068 HP:0002751 Kyphoscoliosis OMIM:610756 ERCC2 2068 HP:0000007 Autosomal recessive inheritance OMIM:610756 ERCC2 2068 HP:0000568 Microphthalmos OMIM:610756 ERCC2 2068 HP:0001838 Rocker bottom foot OMIM:610756 ERCC2 2068 HP:0000992 Cutaneous photosensitivity OMIM:610756 ERCC2 2068 HP:0000518 Cataract OMIM:610756 ERCC2 2068 HP:0000054 Micropenis OMIM:610756 ERCC2 2068 HP:0000365 Hearing impairment OMIM:610756 ERCC2 2068 HP:0000347 Micrognathia OMIM:142000 HBD 3045 HP:0005560 Imbalanced hemoglobin synthesis OMIM:142000 HBD 3045 HP:0001903 Anemia OMIM:142000 HBD 3045 HP:0000006 Autosomal dominant inheritance OMIM:614256 CACNG2 10369 HP:0001249 Intellectual disability OMIM:614256 CACNG2 10369 HP:0000006 Autosomal dominant inheritance OMIM:615481 RSPH1 89765 HP:0012265 Ciliary dyskinesia OMIM:615481 RSPH1 89765 HP:0002110 Bronchiectasis OMIM:615481 RSPH1 89765 HP:0012384 Rhinitis OMIM:615481 RSPH1 89765 HP:0000246 Sinusitis OMIM:615481 RSPH1 89765 HP:0000007 Autosomal recessive inheritance OMIM:615481 RSPH1 89765 HP:0000789 Infertility OMIM:222600 SLC26A2 1836 HP:0001252 Muscular hypotonia OMIM:222600 SLC26A2 1836 HP:0000944 Abnormality of the metaphyses OMIM:222600 SLC26A2 1836 HP:0011001 Increased bone mineral density OMIM:222600 SLC26A2 1836 HP:0006487 Bowing of the long bones OMIM:222600 SLC26A2 1836 HP:0000974 Hyperextensible skin OMIM:222600 SLC26A2 1836 HP:0000293 Full cheeks OMIM:222600 SLC26A2 1836 HP:0000365 Hearing impairment OMIM:222600 SLC26A2 1836 HP:0003273 Hip contracture OMIM:222600 SLC26A2 1836 HP:0001762 Talipes equinovarus OMIM:222600 SLC26A2 1836 HP:0009773 Symphalangism affecting the phalanges of the hand OMIM:222600 SLC26A2 1836 HP:0001156 Brachydactyly syndrome OMIM:222600 SLC26A2 1836 HP:0000316 Hypertelorism OMIM:222600 SLC26A2 1836 HP:0009623 Proximal placement of thumb OMIM:222600 SLC26A2 1836 HP:0000347 Micrognathia OMIM:222600 SLC26A2 1836 HP:0010582 Irregular epiphyses OMIM:222600 SLC26A2 1836 HP:0005280 Depressed nasal bridge OMIM:222600 SLC26A2 1836 HP:0002808 Kyphosis OMIM:222600 SLC26A2 1836 HP:0003272 Abnormality of the hip bone OMIM:222600 SLC26A2 1836 HP:0001163 Abnormality of the metacarpal bones OMIM:222600 SLC26A2 1836 HP:0002176 Spinal cord compression OMIM:222600 SLC26A2 1836 HP:0002205 Recurrent respiratory infections OMIM:222600 SLC26A2 1836 HP:0008921 Neonatal short-limb short stature OMIM:222600 SLC26A2 1836 HP:0004894 Laryngotracheal stenosis OMIM:222600 SLC26A2 1836 HP:0000396 Overfolded helix OMIM:222600 SLC26A2 1836 HP:0009381 Short finger OMIM:222600 SLC26A2 1836 HP:0002514 Cerebral calcification OMIM:222600 SLC26A2 1836 HP:0000889 Abnormality of the clavicle OMIM:222600 SLC26A2 1836 HP:0006646 Costal cartilage calcification OMIM:222600 SLC26A2 1836 HP:0000175 Cleft palate OMIM:222600 SLC26A2 1836 HP:0000772 Abnormality of the ribs OMIM:222600 SLC26A2 1836 HP:0002947 Cervical kyphosis OMIM:222600 SLC26A2 1836 HP:0002650 Scoliosis OMIM:222600 SLC26A2 1836 HP:0001382 Joint hypermobility OMIM:222600 SLC26A2 1836 HP:0008873 Disproportionate short-limb short stature OMIM:222600 SLC26A2 1836 HP:0009748 Large earlobe OMIM:222600 SLC26A2 1836 HP:0009465 Ulnar deviation of finger OMIM:222600 SLC26A2 1836 HP:0003312 Abnormal form of the vertebral bodies OMIM:222600 SLC26A2 1836 HP:0000272 Malar flattening OMIM:222600 SLC26A2 1836 HP:0001609 Hoarse voice OMIM:222600 SLC26A2 1836 HP:0002751 Kyphoscoliosis OMIM:222600 SLC26A2 1836 HP:0003026 Short long bone OMIM:222600 SLC26A2 1836 HP:0000368 Low-set, posteriorly rotated ears OMIM:222600 SLC26A2 1836 HP:0000592 Blue sclerae OMIM:222600 SLC26A2 1836 HP:0001076 Glabellar hemangioma OMIM:222600 SLC26A2 1836 HP:0000256 Macrocephaly OMIM:222600 SLC26A2 1836 HP:0001234 Hitchhiker thumb OMIM:222600 SLC26A2 1836 HP:0003042 Elbow dislocation OMIM:222600 SLC26A2 1836 HP:0003071 Flattened epiphysis OMIM:222600 SLC26A2 1836 HP:0000007 Autosomal recessive inheritance OMIM:222600 SLC26A2 1836 HP:0100490 Camptodactyly of finger OMIM:222600 SLC26A2 1836 HP:0008434 Hypoplastic cervical vertebrae OMIM:222600 SLC26A2 1836 HP:0001376 Limitation of joint mobility OMIM:222600 SLC26A2 1836 HP:0001511 Intrauterine growth retardation OMIM:222600 SLC26A2 1836 HP:0002983 Micromelia OMIM:222600 SLC26A2 1836 HP:0002093 Respiratory insufficiency OMIM:222600 SLC26A2 1836 HP:0010723 Cystic lesions of the pinnae OMIM:222600 SLC26A2 1836 HP:0000028 Cryptorchidism OMIM:222600 SLC26A2 1836 HP:0100761 Visceral angiomatosis OMIM:222600 SLC26A2 1836 HP:0008608 Hypertrophic auricular cartilage OMIM:615451 ARMC4 55130 HP:0000403 Recurrent otitis media OMIM:615451 ARMC4 55130 HP:0002110 Bronchiectasis OMIM:615451 ARMC4 55130 HP:0001696 Situs inversus totalis OMIM:615451 ARMC4 55130 HP:0000246 Sinusitis OMIM:615451 ARMC4 55130 HP:0000007 Autosomal recessive inheritance OMIM:615451 ARMC4 55130 HP:0012384 Rhinitis OMIM:615451 ARMC4 55130 HP:0200073 Respiratory insufficiency due to defective ciliary clearance OMIM:615451 ARMC4 55130 HP:0012265 Ciliary dyskinesia OMIM:615451 ARMC4 55130 HP:0004469 Chronic bronchitis OMIM:112410 PDE3A 5139 HP:0004322 Short stature OMIM:112410 PDE3A 5139 HP:0001156 Brachydactyly syndrome OMIM:112410 PDE3A 5139 HP:0000822 Hypertension OMIM:112410 PDE3A 5139 HP:0009803 Short phalanx of finger OMIM:112410 PDE3A 5139 HP:0001167 Abnormality of finger OMIM:112410 PDE3A 5139 HP:0010049 Short metacarpal OMIM:112410 PDE3A 5139 HP:0001163 Abnormality of the metacarpal bones OMIM:112410 PDE3A 5139 HP:0000006 Autosomal dominant inheritance OMIM:600334 TTN 7273 HP:0003376 Steppage gait OMIM:600334 TTN 7273 HP:0003677 Slow progression OMIM:600334 TTN 7273 HP:0003829 Incomplete penetrance OMIM:600334 TTN 7273 HP:0003581 Adult onset OMIM:600334 TTN 7273 HP:0000006 Autosomal dominant inheritance OMIM:600334 TTN 7273 HP:0003560 Muscular dystrophy OMIM:600334 TTN 7273 HP:0003805 Rimmed vacuoles OMIM:600334 TTN 7273 HP:0003458 EMG: myopathic abnormalities OMIM:238970 SLC25A15 10166 HP:0001410 Decreased liver function OMIM:238970 SLC25A15 10166 HP:0002240 Hepatomegaly OMIM:238970 SLC25A15 10166 HP:0000762 Decreased nerve conduction velocity OMIM:238970 SLC25A15 10166 HP:0002370 Poor coordination OMIM:238970 SLC25A15 10166 HP:0002313 Spastic paraparesis OMIM:238970 SLC25A15 10166 HP:0001328 Specific learning disability OMIM:238970 SLC25A15 10166 HP:0002572 Episodic vomiting OMIM:238970 SLC25A15 10166 HP:0002169 Clonus OMIM:238970 SLC25A15 10166 HP:0002123 Generalized myoclonic seizures OMIM:238970 SLC25A15 10166 HP:0012026 Hyperornithinemia OMIM:238970 SLC25A15 10166 HP:0006846 Acute encephalopathy OMIM:238970 SLC25A15 10166 HP:0002062 Morphological abnormality of the pyramidal tract OMIM:238970 SLC25A15 10166 HP:0002038 Protein avoidance OMIM:238970 SLC25A15 10166 HP:0001249 Intellectual disability OMIM:238970 SLC25A15 10166 HP:0001252 Muscular hypotonia OMIM:238970 SLC25A15 10166 HP:0001263 Global developmental delay OMIM:238970 SLC25A15 10166 HP:0002495 Impaired vibratory sensation OMIM:238970 SLC25A15 10166 HP:0000533 Chorioretinal atrophy OMIM:238970 SLC25A15 10166 HP:0007256 Abnormal pyramidal signs OMIM:238970 SLC25A15 10166 HP:0003812 Phenotypic variability OMIM:238970 SLC25A15 10166 HP:0200119 Acute hepatitis OMIM:238970 SLC25A15 10166 HP:0001254 Lethargy OMIM:238970 SLC25A15 10166 HP:0000007 Autosomal recessive inheritance OMIM:238970 SLC25A15 10166 HP:0001259 Coma OMIM:238970 SLC25A15 10166 HP:0002120 Cerebral cortical atrophy OMIM:238970 SLC25A15 10166 HP:0001987 Hyperammonemia OMIM:238970 SLC25A15 10166 HP:0007894 Hypopigmentation of the fundus OMIM:238970 SLC25A15 10166 HP:0001508 Failure to thrive OMIM:163000 GNAQ 2776 HP:0000501 Glaucoma OMIM:163000 GNAQ 2776 HP:0001034 Hypermelanotic macule OMIM:163000 GNAQ 2776 HP:0002817 Abnormality of the upper limb OMIM:163000 GNAQ 2776 HP:0002514 Cerebral calcification OMIM:163000 GNAQ 2776 HP:0100559 Lower limb asymmetry OMIM:163000 GNAQ 2776 HP:0100543 Cognitive impairment OMIM:163000 GNAQ 2776 HP:0000006 Autosomal dominant inheritance OMIM:163000 GNAQ 2776 HP:0001291 Abnormality of the cranial nerves OMIM:163000 GNAQ 2776 HP:0011675 Arrhythmia OMIM:163000 GNAQ 2776 HP:0005293 Venous insufficiency OMIM:163000 GNAQ 2776 HP:0000969 Edema OMIM:163000 GNAQ 2776 HP:0004418 Thrombophlebitis OMIM:163000 GNAQ 2776 HP:0100026 Arteriovenous malformation OMIM:163000 GNAQ 2776 HP:0001250 Seizures OMIM:163000 GNAQ 2776 HP:0002170 Intracranial hemorrhage OMIM:163000 GNAQ 2776 HP:0200042 Skin ulcer OMIM:163000 GNAQ 2776 HP:0002204 Pulmonary embolism OMIM:163000 GNAQ 2776 HP:0004374 Hemiplegia/hemiparesis OMIM:163000 GNAQ 2776 HP:0002650 Scoliosis OMIM:163000 GNAQ 2776 HP:0001052 Nevus flammeus OMIM:608013 GBA 2629 HP:0002179 Opisthotonus OMIM:608013 GBA 2629 HP:0000979 Purpura OMIM:608013 GBA 2629 HP:0001511 Intrauterine growth retardation OMIM:608013 GBA 2629 HP:0002104 Apnea OMIM:608013 GBA 2629 HP:0005257 Thoracic hypoplasia OMIM:608013 GBA 2629 HP:0000741 Apathy OMIM:608013 GBA 2629 HP:0007479 Congenital nonbullous ichthyosiform erythroderma OMIM:608013 GBA 2629 HP:0001561 Polyhydramnios OMIM:608013 GBA 2629 HP:0008551 Microtia OMIM:608013 GBA 2629 HP:0000160 Narrow mouth OMIM:608013 GBA 2629 HP:0000007 Autosomal recessive inheritance OMIM:608013 GBA 2629 HP:0001790 Nonimmune hydrops fetalis OMIM:608013 GBA 2629 HP:0000347 Micrognathia OMIM:608013 GBA 2629 HP:0001250 Seizures OMIM:608013 GBA 2629 HP:0002804 Arthrogryposis multiplex congenita OMIM:608013 GBA 2629 HP:0002119 Ventriculomegaly OMIM:608013 GBA 2629 HP:0003656 Decreased beta-glucocerebrosidase protein and activity OMIM:608013 GBA 2629 HP:0002240 Hepatomegaly OMIM:608013 GBA 2629 HP:0000252 Microcephaly OMIM:608013 GBA 2629 HP:0002344 Progressive neurologic deterioration OMIM:608013 GBA 2629 HP:0001789 Hydrops fetalis OMIM:608013 GBA 2629 HP:0001252 Muscular hypotonia OMIM:608013 GBA 2629 HP:0001903 Anemia OMIM:608013 GBA 2629 HP:0000962 Hyperkeratosis OMIM:608013 GBA 2629 HP:0000325 Triangular face OMIM:608013 GBA 2629 HP:0000278 Retrognathia OMIM:608013 GBA 2629 HP:0001640 Cardiomegaly OMIM:608013 GBA 2629 HP:0007549 Desquamation of skin soon after birth OMIM:608013 GBA 2629 HP:0002098 Respiratory distress OMIM:608013 GBA 2629 HP:0002304 Akinesia OMIM:608013 GBA 2629 HP:0001744 Splenomegaly OMIM:608013 GBA 2629 HP:0002170 Intracranial hemorrhage OMIM:608013 GBA 2629 HP:0000369 Low-set ears OMIM:608013 GBA 2629 HP:0000316 Hypertelorism OMIM:608013 GBA 2629 HP:0002015 Dysphagia OMIM:608013 GBA 2629 HP:0001558 Decreased fetal movement OMIM:608013 GBA 2629 HP:0000486 Strabismus OMIM:608013 GBA 2629 HP:0005280 Depressed nasal bridge OMIM:608013 GBA 2629 HP:0001399 Hepatic failure OMIM:608013 GBA 2629 HP:0000463 Anteverted nares OMIM:608013 GBA 2629 HP:0001276 Hypertonia OMIM:608013 GBA 2629 HP:0010803 Everted upper lip vermilion OMIM:608013 GBA 2629 HP:0000967 Petechiae OMIM:608013 GBA 2629 HP:0000492 Abnormality of the eyelid OMIM:608013 GBA 2629 HP:0000368 Low-set, posteriorly rotated ears OMIM:608013 GBA 2629 HP:0001873 Thrombocytopenia OMIM:608013 GBA 2629 HP:0001622 Premature birth OMIM:608013 GBA 2629 HP:0000174 Abnormality of the palate OMIM:608013 GBA 2629 HP:0001541 Ascites OMIM:608013 GBA 2629 HP:0002375 Hypokinesia OMIM:608013 GBA 2629 HP:0003196 Short nose OMIM:608013 GBA 2629 HP:0000194 Open mouth OMIM:608013 GBA 2629 HP:0000232 Everted lower lip vermilion OMIM:603278 ACTN4 81 HP:0000969 Edema OMIM:603278 ACTN4 81 HP:0000097 Focal segmental glomerulosclerosis OMIM:603278 ACTN4 81 HP:0000093 Proteinuria OMIM:603278 ACTN4 81 HP:0003077 Hyperlipidemia OMIM:603278 ACTN4 81 HP:0003073 Hypoalbuminemia ORPHANET:2140 ZFPM2 23414 HP:0000776 Congenital diaphragmatic hernia ORPHANET:2140 GATA6 2627 HP:0000776 Congenital diaphragmatic hernia OMIM:615290 BICD2 23299 HP:0002515 Waddling gait OMIM:615290 BICD2 23299 HP:0003691 Scapular winging OMIM:615290 BICD2 23299 HP:0001265 Hyporeflexia OMIM:615290 BICD2 23299 HP:0002380 Fasciculations OMIM:615290 BICD2 23299 HP:0003828 Variable expressivity OMIM:615290 BICD2 23299 HP:0007269 Spinal muscular atrophy OMIM:615290 BICD2 23299 HP:0006380 Knee flexion contracture OMIM:615290 BICD2 23299 HP:0003391 Gowers sign OMIM:615290 BICD2 23299 HP:0001385 Hip dysplasia OMIM:615290 BICD2 23299 HP:0003273 Hip contracture OMIM:615290 BICD2 23299 HP:0000006 Autosomal dominant inheritance OMIM:615290 BICD2 23299 HP:0001347 Hyperreflexia OMIM:615290 BICD2 23299 HP:0001257 Spasticity OMIM:615290 BICD2 23299 HP:0003307 Hyperlordosis OMIM:615290 BICD2 23299 HP:0009046 Difficulty running OMIM:615290 BICD2 23299 HP:0003327 Axial muscle weakness OMIM:615290 BICD2 23299 HP:0001270 Motor delay OMIM:615290 BICD2 23299 HP:0001284 Areflexia OMIM:615290 BICD2 23299 HP:0001771 Achilles tendon contracture OMIM:615290 BICD2 23299 HP:0040083 Toe walking OMIM:615290 BICD2 23299 HP:0001762 Talipes equinovarus OMIM:219100 FBLN5 10516 HP:0002097 Emphysema OMIM:219100 FBLN5 10516 HP:0000007 Autosomal recessive inheritance OMIM:219100 FBLN5 10516 HP:0000776 Congenital diaphragmatic hernia OMIM:219100 FBLN5 10516 HP:0001562 Oligohydramnios OMIM:219100 FBLN5 10516 HP:0001548 Overgrowth OMIM:219100 FBLN5 10516 HP:0004381 Supravalvular aortic stenosis OMIM:219100 FBLN5 10516 HP:0000252 Microcephaly OMIM:219100 FBLN5 10516 HP:0001166 Arachnodactyly OMIM:219100 FBLN5 10516 HP:0000271 Abnormality of the face OMIM:219100 FBLN5 10516 HP:0000767 Pectus excavatum OMIM:219100 FBLN5 10516 HP:0002205 Recurrent respiratory infections OMIM:219100 FBLN5 10516 HP:0001582 Redundant skin OMIM:219100 FBLN5 10516 HP:0004948 Vascular tortuosity OMIM:219100 FBLN5 10516 HP:0001425 Heterogeneous OMIM:219100 FBLN5 10516 HP:0001537 Umbilical hernia OMIM:219100 FBLN5 10516 HP:0000023 Inguinal hernia OMIM:219100 FBLN5 10516 HP:0000015 Bladder diverticulum OMIM:219100 FBLN5 10516 HP:0001388 Joint laxity OMIM:219100 FBLN5 10516 HP:0002631 Ascending aortic aneurysm OMIM:600638 TUBB3 10381 HP:0001274 Agenesis of corpus callosum OMIM:600638 TUBB3 10381 HP:0010628 Facial palsy OMIM:600638 TUBB3 10381 HP:0000646 Amblyopia OMIM:600638 TUBB3 10381 HP:0000508 Ptosis OMIM:600638 TUBB3 10381 HP:0001328 Specific learning disability OMIM:600638 TUBB3 10381 HP:0000577 Exotropia OMIM:600638 TUBB3 10381 HP:0100490 Camptodactyly of finger OMIM:600638 TUBB3 10381 HP:0001263 Global developmental delay OMIM:600638 TUBB3 10381 HP:0001477 Compensatory chin elevation OMIM:600638 TUBB3 10381 HP:0007831 Nonprogressive restrictive external ophthalmoplegia OMIM:600638 TUBB3 10381 HP:0001491 Congenital fibrosis of extraocular muscles OMIM:600638 TUBB3 10381 HP:0001239 Wrist flexion contracture OMIM:600638 TUBB3 10381 HP:0000006 Autosomal dominant inheritance OMIM:600638 TUBB3 10381 HP:0012241 Levator palpebrae superioris atrophy OMIM:600638 TUBB3 10381 HP:0012242 Superior rectus atrophy OMIM:600638 TUBB3 10381 HP:0003477 Peripheral axonal neuropathy OMIM:600638 TUBB3 10381 HP:0003812 Phenotypic variability OMIM:222470 TTC37 9652 HP:0011877 Increased mean platelet volume OMIM:222470 TTC37 9652 HP:0100543 Cognitive impairment OMIM:222470 TTC37 9652 HP:0001894 Thrombocytosis OMIM:222470 TTC37 9652 HP:0000007 Autosomal recessive inheritance OMIM:222470 TTC37 9652 HP:0002299 Brittle hair OMIM:222470 TTC37 9652 HP:0000952 Jaundice OMIM:222470 TTC37 9652 HP:0000193 Bifid uvula OMIM:222470 TTC37 9652 HP:0001636 Tetralogy of Fallot OMIM:222470 TTC37 9652 HP:0000520 Proptosis OMIM:222470 TTC37 9652 HP:0000154 Wide mouth OMIM:222470 TTC37 9652 HP:0002240 Hepatomegaly OMIM:222470 TTC37 9652 HP:0003073 Hypoalbuminemia OMIM:222470 TTC37 9652 HP:0001561 Polyhydramnios OMIM:222470 TTC37 9652 HP:0011031 Abnormality of iron homeostasis OMIM:222470 TTC37 9652 HP:0000457 Depressed nasal ridge OMIM:222470 TTC37 9652 HP:0001642 Pulmonic stenosis OMIM:222470 TTC37 9652 HP:0001511 Intrauterine growth retardation OMIM:222470 TTC37 9652 HP:0004322 Short stature OMIM:222470 TTC37 9652 HP:0001659 Aortic regurgitation OMIM:222470 TTC37 9652 HP:0011473 Villous atrophy OMIM:222470 TTC37 9652 HP:0012023 Galactosuria OMIM:222470 TTC37 9652 HP:0006267 Large placenta OMIM:222470 TTC37 9652 HP:0000160 Narrow mouth OMIM:222470 TTC37 9652 HP:0002041 Intractable diarrhea OMIM:222470 TTC37 9652 HP:0001395 Hepatic fibrosis OMIM:222470 TTC37 9652 HP:0002007 Frontal bossing OMIM:222470 TTC37 9652 HP:0009891 Underdeveloped supraorbital ridges OMIM:222470 TTC37 9652 HP:0001399 Hepatic failure OMIM:222470 TTC37 9652 HP:0002715 Abnormality of the immune system OMIM:222470 TTC37 9652 HP:0003235 Hypermethioninemia OMIM:222470 TTC37 9652 HP:0009886 Trichorrhexis nodosa OMIM:222470 TTC37 9652 HP:0001508 Failure to thrive OMIM:222470 TTC37 9652 HP:0001629 Ventricular septal defect OMIM:222470 TTC37 9652 HP:0000343 Long philtrum OMIM:222470 TTC37 9652 HP:0002224 Woolly hair OMIM:222470 TTC37 9652 HP:0001394 Cirrhosis OMIM:222470 TTC37 9652 HP:0011220 Prominent forehead OMIM:222470 TTC37 9652 HP:0000445 Wide nose OMIM:222470 TTC37 9652 HP:0004734 Renal cortical microcysts OMIM:222470 TTC37 9652 HP:0002014 Diarrhea OMIM:222470 TTC37 9652 HP:0000316 Hypertelorism OMIM:222470 TTC37 9652 HP:0001396 Cholestasis OMIM:222470 TTC37 9652 HP:0001518 Small for gestational age OMIM:222470 TTC37 9652 HP:0000369 Low-set ears OMIM:222470 TTC37 9652 HP:0002212 Curly hair OMIM:222470 TTC37 9652 HP:0001732 Abnormality of the pancreas OMIM:222470 TTC37 9652 HP:0008070 Sparse hair OMIM:222470 TTC37 9652 HP:0008551 Microtia OMIM:222470 TTC37 9652 HP:0002213 Fine hair OMIM:222470 TTC37 9652 HP:0000463 Anteverted nares OMIM:222470 TTC37 9652 HP:0000494 Downslanted palpebral fissures OMIM:176860 PROC 5624 HP:0100724 Hypercoagulability OMIM:176860 PROC 5624 HP:0000006 Autosomal dominant inheritance OMIM:176860 PROC 5624 HP:0000478 Abnormality of the eye OMIM:176860 PROC 5624 HP:0005305 Cerebral venous thrombosis OMIM:176860 PROC 5624 HP:0001038 Warfarin-induced skin necrosis OMIM:176860 PROC 5624 HP:0002204 Pulmonary embolism OMIM:176860 PROC 5624 HP:0000707 Abnormality of the nervous system OMIM:176860 PROC 5624 HP:0005543 Reduced protein C activity OMIM:176860 PROC 5624 HP:0002638 Superficial thrombophlebitis OMIM:176860 PROC 5624 HP:0002625 Deep venous thrombosis OMIM:229300 FXN 2395 HP:0010831 Impaired proprioception OMIM:229300 FXN 2395 HP:0000007 Autosomal recessive inheritance OMIM:229300 FXN 2395 HP:0002070 Limb ataxia OMIM:229300 FXN 2395 HP:0003621 Juvenile onset OMIM:229300 FXN 2395 HP:0002495 Impaired vibratory sensation OMIM:229300 FXN 2395 HP:0003448 Decreased sensory nerve conduction velocity OMIM:229300 FXN 2395 HP:0003209 Decreased pyruvate carboxylase activity OMIM:229300 FXN 2395 HP:0000505 Visual impairment OMIM:229300 FXN 2395 HP:0003232 Mitochondrial malic enzyme reduced OMIM:229300 FXN 2395 HP:0002522 Areflexia of lower limbs OMIM:229300 FXN 2395 HP:0003115 Abnormal EKG OMIM:229300 FXN 2395 HP:0001639 Hypertrophic cardiomyopathy OMIM:229300 FXN 2395 HP:0000649 Abnormality of vision evoked potentials OMIM:229300 FXN 2395 HP:0003487 Babinski sign OMIM:229300 FXN 2395 HP:0001123 Visual field defect OMIM:229300 FXN 2395 HP:0000763 Sensory neuropathy OMIM:229300 FXN 2395 HP:0000648 Optic atrophy OMIM:229300 FXN 2395 HP:0002650 Scoliosis OMIM:229300 FXN 2395 HP:0001260 Dysarthria OMIM:229300 FXN 2395 HP:0001635 Congestive heart failure OMIM:229300 FXN 2395 HP:0002066 Gait ataxia OMIM:229300 FXN 2395 HP:0001761 Pes cavus OMIM:229300 FXN 2395 HP:0003116 Abnormal echocardiogram OMIM:229300 FXN 2395 HP:0007078 Decreased amplitude of sensory action potentials OMIM:229300 FXN 2395 HP:0000639 Nystagmus OMIM:229300 FXN 2395 HP:0000819 Diabetes mellitus OMIM:311200 OFD1 8481 HP:0002281 Gray matter heterotopias OMIM:311200 OFD1 8481 HP:0000958 Dry skin OMIM:311200 OFD1 8481 HP:0000252 Microcephaly OMIM:311200 OFD1 8481 HP:0000494 Downslanted palpebral fissures OMIM:311200 OFD1 8481 HP:0000324 Facial asymmetry OMIM:311200 OFD1 8481 HP:0001177 Preaxial hand polydactyly OMIM:311200 OFD1 8481 HP:0002475 Myelomeningocele OMIM:311200 OFD1 8481 HP:0001831 Short toe OMIM:311200 OFD1 8481 HP:0001250 Seizures OMIM:311200 OFD1 8481 HP:0001627 Abnormality of cardiac morphology OMIM:311200 OFD1 8481 HP:0030084 Clinodactyly OMIM:311200 OFD1 8481 HP:0004322 Short stature OMIM:311200 OFD1 8481 HP:0000453 Choanal atresia OMIM:311200 OFD1 8481 HP:0000431 Wide nasal bridge OMIM:311200 OFD1 8481 HP:0000286 Epicanthus OMIM:311200 OFD1 8481 HP:0001596 Alopecia OMIM:311200 OFD1 8481 HP:0000187 Broad alveolar ridges OMIM:311200 OFD1 8481 HP:0006101 Finger syndactyly OMIM:311200 OFD1 8481 HP:0000093 Proteinuria OMIM:311200 OFD1 8481 HP:0010297 Bifid tongue OMIM:311200 OFD1 8481 HP:0000506 Telecanthus OMIM:311200 OFD1 8481 HP:0001407 Hepatic cysts OMIM:311200 OFD1 8481 HP:0004349 Reduced bone mineral density OMIM:311200 OFD1 8481 HP:0000175 Cleft palate OMIM:311200 OFD1 8481 HP:0000003 Multicystic kidney dysplasia OMIM:311200 OFD1 8481 HP:0006349 Agenesis of permanent teeth OMIM:311200 OFD1 8481 HP:0000682 Abnormality of dental enamel OMIM:311200 OFD1 8481 HP:0000670 Carious teeth OMIM:311200 OFD1 8481 HP:0002007 Frontal bossing OMIM:311200 OFD1 8481 HP:0100702 Arachnoid cyst OMIM:311200 OFD1 8481 HP:0000238 Hydrocephalus OMIM:311200 OFD1 8481 HP:0000388 Otitis media OMIM:311200 OFD1 8481 HP:0001395 Hepatic fibrosis OMIM:311200 OFD1 8481 HP:0009804 Reduced number of teeth OMIM:311200 OFD1 8481 HP:0000308 Microretrognathia OMIM:311200 OFD1 8481 HP:0100543 Cognitive impairment OMIM:311200 OFD1 8481 HP:0000822 Hypertension OMIM:311200 OFD1 8481 HP:0010579 Cone-shaped epiphysis OMIM:311200 OFD1 8481 HP:0000138 Ovarian cyst OMIM:311200 OFD1 8481 HP:0009085 Alveolar ridge overgrowth OMIM:311200 OFD1 8481 HP:0100612 Odontogenic neoplasm OMIM:311200 OFD1 8481 HP:0000347 Micrognathia OMIM:311200 OFD1 8481 HP:0000316 Hypertelorism OMIM:311200 OFD1 8481 HP:0001162 Postaxial hand polydactyly OMIM:311200 OFD1 8481 HP:0010669 Cheekbone underdevelopment OMIM:311200 OFD1 8481 HP:0001274 Agenesis of corpus callosum OMIM:311200 OFD1 8481 HP:0001738 Exocrine pancreatic insufficiency OMIM:311200 OFD1 8481 HP:0002910 Elevated hepatic transaminases OMIM:311200 OFD1 8481 HP:0000430 Underdeveloped nasal alae OMIM:311200 OFD1 8481 HP:0006706 Cystic liver disease OMIM:311200 OFD1 8481 HP:0009466 Radial deviation of finger OMIM:311200 OFD1 8481 HP:0001423 X-linked dominant inheritance OMIM:311200 OFD1 8481 HP:0000180 Lobulated tongue OMIM:311200 OFD1 8481 HP:0003577 Congenital onset OMIM:311200 OFD1 8481 HP:0008070 Sparse hair OMIM:311200 OFD1 8481 HP:0002617 Aneurysm OMIM:311200 OFD1 8481 HP:0000369 Low-set ears OMIM:311200 OFD1 8481 HP:0001056 Milia OMIM:311200 OFD1 8481 HP:0001156 Brachydactyly syndrome OMIM:311200 OFD1 8481 HP:0001737 Pancreatic cysts OMIM:311200 OFD1 8481 HP:0004209 Clinodactyly of the 5th finger OMIM:311200 OFD1 8481 HP:0001159 Syndactyly OMIM:311200 OFD1 8481 HP:0002208 Coarse hair OMIM:311200 OFD1 8481 HP:0010442 Polydactyly OMIM:311200 OFD1 8481 HP:0001317 Abnormality of the cerebellum OMIM:311200 OFD1 8481 HP:0001829 Foot polydactyly OMIM:311200 OFD1 8481 HP:0001780 Abnormality of toe OMIM:311200 OFD1 8481 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:311200 OFD1 8481 HP:0000204 Cleft upper lip OMIM:311200 OFD1 8481 HP:0001249 Intellectual disability OMIM:311200 OFD1 8481 HP:0001305 Dandy-Walker malformation OMIM:311200 OFD1 8481 HP:0011069 Increased number of teeth OMIM:311200 OFD1 8481 HP:0000083 Renal insufficiency OMIM:311200 OFD1 8481 HP:0002132 Porencephaly OMIM:311200 OFD1 8481 HP:0000113 Polycystic kidney dysplasia OMIM:311200 OFD1 8481 HP:0008368 Tarsal synostosis OMIM:311200 OFD1 8481 HP:0001337 Tremor OMIM:311200 OFD1 8481 HP:0005288 Abnormality of the nares OMIM:311200 OFD1 8481 HP:0002444 Hypothalamic hamartoma OMIM:311200 OFD1 8481 HP:0000199 Tongue nodules OMIM:311200 OFD1 8481 HP:0002311 Incoordination OMIM:311200 OFD1 8481 HP:0002536 Abnormal cortical gyration OMIM:311200 OFD1 8481 HP:0000365 Hearing impairment OMIM:311200 OFD1 8481 HP:0000218 High palate OMIM:311200 OFD1 8481 HP:0000161 Median cleft lip OMIM:311200 OFD1 8481 HP:0100267 Lip pit OMIM:311200 OFD1 8481 HP:0000689 Dental malocclusion OMIM:311200 OFD1 8481 HP:0006297 Hypoplasia of dental enamel OMIM:306700 F8 2157 HP:0003645 Prolonged partial thromboplastin time OMIM:306700 F8 2157 HP:0000978 Bruising susceptibility OMIM:306700 F8 2157 HP:0001419 X-linked recessive inheritance OMIM:306700 F8 2157 HP:0003125 Reduced factor VIII activity OMIM:306700 F8 2157 HP:0001379 Degenerative joint disease OMIM:306700 F8 2157 HP:0001934 Persistent bleeding after trauma OMIM:306700 F8 2157 HP:0005261 Joint hemorrhage OMIM:261630 QDPR 5860 HP:0001252 Muscular hypotonia OMIM:261630 QDPR 5860 HP:0001266 Choreoathetosis OMIM:261630 QDPR 5860 HP:0001336 Myoclonus OMIM:261630 QDPR 5860 HP:0001276 Hypertonia OMIM:261630 QDPR 5860 HP:0000007 Autosomal recessive inheritance OMIM:261630 QDPR 5860 HP:0001337 Tremor OMIM:261630 QDPR 5860 HP:0002344 Progressive neurologic deterioration OMIM:261630 QDPR 5860 HP:0100543 Cognitive impairment OMIM:261630 QDPR 5860 HP:0001263 Global developmental delay OMIM:261630 QDPR 5860 HP:0002015 Dysphagia OMIM:261630 QDPR 5860 HP:0003781 Excessive salivation OMIM:261630 QDPR 5860 HP:0000737 Irritability OMIM:261630 QDPR 5860 HP:0001250 Seizures OMIM:261630 QDPR 5860 HP:0001249 Intellectual disability OMIM:261630 QDPR 5860 HP:0002514 Cerebral calcification OMIM:261630 QDPR 5860 HP:0001332 Dystonia OMIM:261630 QDPR 5860 HP:0003593 Infantile onset OMIM:261630 QDPR 5860 HP:0003828 Variable expressivity OMIM:261630 QDPR 5860 HP:0000252 Microcephaly OMIM:261630 QDPR 5860 HP:0004923 Hyperphenylalaninemia OMIM:261630 QDPR 5860 HP:0001954 Episodic fever OMIM:604091 ABCA1 19 HP:0004374 Hemiplegia/hemiparesis OMIM:604091 ABCA1 19 HP:0002716 Lymphadenopathy OMIM:604091 ABCA1 19 HP:0003233 Hypoalphalipoproteinemia OMIM:604091 ABCA1 19 HP:0000006 Autosomal dominant inheritance OMIM:604091 ABCA1 19 HP:0003457 EMG abnormality OMIM:604091 ABCA1 19 HP:0001744 Splenomegaly OMIM:604091 ABCA1 19 HP:0001903 Anemia OMIM:604091 ABCA1 19 HP:0001392 Abnormality of the liver OMIM:604091 ABCA1 19 HP:0003119 Abnormality of lipid metabolism OMIM:604091 APOA1 335 HP:0004374 Hemiplegia/hemiparesis OMIM:604091 APOA1 335 HP:0002716 Lymphadenopathy OMIM:604091 APOA1 335 HP:0003233 Hypoalphalipoproteinemia OMIM:604091 APOA1 335 HP:0000006 Autosomal dominant inheritance OMIM:604091 APOA1 335 HP:0003457 EMG abnormality OMIM:604091 APOA1 335 HP:0001744 Splenomegaly OMIM:604091 APOA1 335 HP:0001903 Anemia OMIM:604091 APOA1 335 HP:0001392 Abnormality of the liver OMIM:604091 APOA1 335 HP:0003119 Abnormality of lipid metabolism OMIM:226700 LAMB3 3914 HP:0003577 Congenital onset OMIM:226700 LAMB3 3914 HP:0001522 Death in infancy OMIM:226700 LAMB3 3914 HP:0001944 Dehydration OMIM:226700 LAMB3 3914 HP:0001770 Toe syndactyly OMIM:226700 LAMB3 3914 HP:0002021 Pyloric stenosis OMIM:226700 LAMB3 3914 HP:0008404 Nail dystrophy OMIM:226700 LAMB3 3914 HP:0001056 Milia OMIM:226700 LAMB3 3914 HP:0200042 Skin ulcer OMIM:226700 LAMB3 3914 HP:0000670 Carious teeth OMIM:226700 LAMB3 3914 HP:0006297 Hypoplasia of dental enamel OMIM:226700 LAMB3 3914 HP:0002164 Nail dysplasia OMIM:226700 LAMB3 3914 HP:0001596 Alopecia OMIM:226700 LAMB3 3914 HP:0001508 Failure to thrive OMIM:226700 LAMB3 3914 HP:0000007 Autosomal recessive inheritance OMIM:226700 LAMB3 3914 HP:0001231 Abnormality of the fingernails OMIM:226700 LAMB3 3914 HP:0007383 Congenital localized absence of skin OMIM:226700 LAMB3 3914 HP:0006101 Finger syndactyly OMIM:226700 LAMB3 3914 HP:0001075 Atrophic scars OMIM:226700 LAMB3 3914 HP:0001806 Onycholysis OMIM:226700 LAMB3 3914 HP:0000163 Abnormality of the oral cavity OMIM:226700 LAMB3 3914 HP:0003341 Junctional split OMIM:226700 LAMC2 3918 HP:0003577 Congenital onset OMIM:226700 LAMC2 3918 HP:0001522 Death in infancy OMIM:226700 LAMC2 3918 HP:0001944 Dehydration OMIM:226700 LAMC2 3918 HP:0001770 Toe syndactyly OMIM:226700 LAMC2 3918 HP:0002021 Pyloric stenosis OMIM:226700 LAMC2 3918 HP:0008404 Nail dystrophy OMIM:226700 LAMC2 3918 HP:0001056 Milia OMIM:226700 LAMC2 3918 HP:0200042 Skin ulcer OMIM:226700 LAMC2 3918 HP:0000670 Carious teeth OMIM:226700 LAMC2 3918 HP:0006297 Hypoplasia of dental enamel OMIM:226700 LAMC2 3918 HP:0002164 Nail dysplasia OMIM:226700 LAMC2 3918 HP:0001596 Alopecia OMIM:226700 LAMC2 3918 HP:0001508 Failure to thrive OMIM:226700 LAMC2 3918 HP:0000007 Autosomal recessive inheritance OMIM:226700 LAMC2 3918 HP:0001231 Abnormality of the fingernails OMIM:226700 LAMC2 3918 HP:0007383 Congenital localized absence of skin OMIM:226700 LAMC2 3918 HP:0006101 Finger syndactyly OMIM:226700 LAMC2 3918 HP:0001075 Atrophic scars OMIM:226700 LAMC2 3918 HP:0001806 Onycholysis OMIM:226700 LAMC2 3918 HP:0000163 Abnormality of the oral cavity OMIM:226700 LAMC2 3918 HP:0003341 Junctional split OMIM:226700 LAMA3 3909 HP:0003577 Congenital onset OMIM:226700 LAMA3 3909 HP:0001522 Death in infancy OMIM:226700 LAMA3 3909 HP:0001944 Dehydration OMIM:226700 LAMA3 3909 HP:0001770 Toe syndactyly OMIM:226700 LAMA3 3909 HP:0002021 Pyloric stenosis OMIM:226700 LAMA3 3909 HP:0008404 Nail dystrophy OMIM:226700 LAMA3 3909 HP:0001056 Milia OMIM:226700 LAMA3 3909 HP:0200042 Skin ulcer OMIM:226700 LAMA3 3909 HP:0000670 Carious teeth OMIM:226700 LAMA3 3909 HP:0006297 Hypoplasia of dental enamel OMIM:226700 LAMA3 3909 HP:0002164 Nail dysplasia OMIM:226700 LAMA3 3909 HP:0001596 Alopecia OMIM:226700 LAMA3 3909 HP:0001508 Failure to thrive OMIM:226700 LAMA3 3909 HP:0000007 Autosomal recessive inheritance OMIM:226700 LAMA3 3909 HP:0001231 Abnormality of the fingernails OMIM:226700 LAMA3 3909 HP:0007383 Congenital localized absence of skin OMIM:226700 LAMA3 3909 HP:0006101 Finger syndactyly OMIM:226700 LAMA3 3909 HP:0001075 Atrophic scars OMIM:226700 LAMA3 3909 HP:0001806 Onycholysis OMIM:226700 LAMA3 3909 HP:0000163 Abnormality of the oral cavity OMIM:226700 LAMA3 3909 HP:0003341 Junctional split OMIM:261740 PRKAG2 51422 HP:0000961 Cyanosis OMIM:261740 PRKAG2 51422 HP:0001635 Congestive heart failure OMIM:261740 PRKAG2 51422 HP:0001541 Ascites OMIM:261740 PRKAG2 51422 HP:0001998 Neonatal hypoglycemia OMIM:261740 PRKAG2 51422 HP:0001640 Cardiomegaly OMIM:261740 PRKAG2 51422 HP:0005165 Shortened PR interval OMIM:261740 PRKAG2 51422 HP:0001250 Seizures OMIM:261740 PRKAG2 51422 HP:0000007 Autosomal recessive inheritance OMIM:261740 PRKAG2 51422 HP:0002615 Hypotension OMIM:261740 PRKAG2 51422 HP:0200128 Biventricular hypertrophy OMIM:261740 PRKAG2 51422 HP:0100598 Pulmonary edema OMIM:261740 PRKAG2 51422 HP:0000158 Macroglossia ORPHANET:239 DYM 54808 HP:0000280 Coarse facial features ORPHANET:239 DYM 54808 HP:0000768 Pectus carinatum ORPHANET:239 DYM 54808 HP:0003834 Shoulder dislocation ORPHANET:239 DYM 54808 HP:0100543 Cognitive impairment ORPHANET:239 DYM 54808 HP:0000717 Autism ORPHANET:239 DYM 54808 HP:0007018 Attention deficit hyperactivity disorder ORPHANET:239 DYM 54808 HP:0000340 Sloping forehead ORPHANET:239 DYM 54808 HP:0001376 Limitation of joint mobility ORPHANET:239 DYM 54808 HP:0002650 Scoliosis ORPHANET:239 DYM 54808 HP:0000252 Microcephaly ORPHANET:239 DYM 54808 HP:0002808 Kyphosis ORPHANET:239 DYM 54808 HP:0010306 Short thorax ORPHANET:239 DYM 54808 HP:0003307 Hyperlordosis ORPHANET:239 DYM 54808 HP:0000926 Platyspondyly ORPHANET:239 DYM 54808 HP:0003311 Hypoplasia of the odontoid process ORPHANET:239 DYM 54808 HP:0000470 Short neck ORPHANET:239 DYM 54808 HP:0004322 Short stature ORPHANET:239 DYM 54808 HP:0001163 Abnormality of the metacarpal bones ORPHANET:239 DYM 54808 HP:0005930 Abnormality of epiphysis morphology ORPHANET:239 DYM 54808 HP:0002857 Genu valgum ORPHANET:239 DYM 54808 HP:0003272 Abnormality of the hip bone ORPHANET:239 DYM 54808 HP:0000944 Abnormality of the metaphyses ORPHANET:239 DYM 54808 HP:0002652 Skeletal dysplasia ORPHANET:239 DYM 54808 HP:0002167 Neurological speech impairment ORPHANET:239 DYM 54808 HP:0009826 Limb undergrowth ORPHANET:239 DYM 54808 HP:0003416 Spinal canal stenosis ORPHANET:239 DYM 54808 HP:0003019 Abnormality of the wrist OMIM:614923 BCKDK 10295 HP:0001250 Seizures OMIM:614923 BCKDK 10295 HP:0001249 Intellectual disability OMIM:614923 BCKDK 10295 HP:0000717 Autism OMIM:614923 BCKDK 10295 HP:0010892 Abnormality of branched chain family amino acid metabolism OMIM:210250 ABCG8 64241 HP:0001744 Splenomegaly OMIM:210250 ABCG8 64241 HP:0001892 Abnormal bleeding OMIM:210250 ABCG8 64241 HP:0001369 Arthritis OMIM:210250 ABCG8 64241 HP:0004446 Stomatocytosis OMIM:210250 ABCG8 64241 HP:0004929 Coronary atherosclerosis OMIM:210250 ABCG8 64241 HP:0008158 Hyperapobetalipoproteinemia OMIM:210250 ABCG8 64241 HP:0001574 Abnormality of the integument OMIM:210250 ABCG8 64241 HP:0000007 Autosomal recessive inheritance OMIM:210250 ABCG8 64241 HP:0001902 Giant platelets OMIM:210250 ABCG8 64241 HP:0002829 Arthralgia OMIM:210250 ABCG8 64241 HP:0003540 Impaired platelet aggregation OMIM:210250 ABCG8 64241 HP:0001923 Reticulocytosis OMIM:210250 ABCG8 64241 HP:0003124 Hypercholesterolemia OMIM:210250 ABCG8 64241 HP:0001392 Abnormality of the liver OMIM:210250 ABCG8 64241 HP:0004870 Chronic hemolytic anemia OMIM:210250 ABCG8 64241 HP:0004802 Episodic hemolytic anemia OMIM:210250 ABCG8 64241 HP:0002027 Abdominal pain OMIM:210250 ABCG5 64240 HP:0001744 Splenomegaly OMIM:210250 ABCG5 64240 HP:0001892 Abnormal bleeding OMIM:210250 ABCG5 64240 HP:0001369 Arthritis OMIM:210250 ABCG5 64240 HP:0004446 Stomatocytosis OMIM:210250 ABCG5 64240 HP:0004929 Coronary atherosclerosis OMIM:210250 ABCG5 64240 HP:0008158 Hyperapobetalipoproteinemia OMIM:210250 ABCG5 64240 HP:0001574 Abnormality of the integument OMIM:210250 ABCG5 64240 HP:0000007 Autosomal recessive inheritance OMIM:210250 ABCG5 64240 HP:0001902 Giant platelets OMIM:210250 ABCG5 64240 HP:0002829 Arthralgia OMIM:210250 ABCG5 64240 HP:0003540 Impaired platelet aggregation OMIM:210250 ABCG5 64240 HP:0001923 Reticulocytosis OMIM:210250 ABCG5 64240 HP:0003124 Hypercholesterolemia OMIM:210250 ABCG5 64240 HP:0001392 Abnormality of the liver OMIM:210250 ABCG5 64240 HP:0004870 Chronic hemolytic anemia OMIM:210250 ABCG5 64240 HP:0004802 Episodic hemolytic anemia OMIM:210250 ABCG5 64240 HP:0002027 Abdominal pain OMIM:158901 SMCHD1 23347 HP:0010628 Facial palsy OMIM:158901 SMCHD1 23347 HP:0009027 Foot dorsiflexor weakness OMIM:158901 SMCHD1 23347 HP:0003749 Pelvic girdle muscle weakness OMIM:158901 SMCHD1 23347 HP:0008970 Scapulohumeral muscular dystrophy OMIM:158901 SMCHD1 23347 HP:0010984 Digenic inheritance OMIM:158901 SMCHD1 23347 HP:0000365 Hearing impairment OMIM:300600 CACNA1F 778 HP:0001417 X-linked inheritance OMIM:300600 CACNA1F 778 HP:0001022 Albinism OMIM:300600 CACNA1F 778 HP:0001141 Severe visual impairment OMIM:300600 CACNA1F 778 HP:0001939 Abnormality of metabolism/homeostasis OMIM:300600 CACNA1F 778 HP:0007750 Hypoplasia of the fovea OMIM:300600 CACNA1F 778 HP:0000483 Astigmatism OMIM:300600 CACNA1F 778 HP:0000639 Nystagmus OMIM:300600 CACNA1F 778 HP:0000545 Myopia OMIM:602197 CDR3 8163 HP:0001317 Abnormality of the cerebellum OMIM:613848 SERPINH1 871 HP:0000325 Triangular face OMIM:613848 SERPINH1 871 HP:0000586 Shallow orbits OMIM:613848 SERPINH1 871 HP:0000703 Dentinogenesis imperfecta OMIM:613848 SERPINH1 871 HP:0011220 Prominent forehead OMIM:613848 SERPINH1 871 HP:0000885 Broad ribs OMIM:613848 SERPINH1 871 HP:0004482 Relative macrocephaly OMIM:613848 SERPINH1 871 HP:0002021 Pyloric stenosis OMIM:613848 SERPINH1 871 HP:0001290 Generalized hypotonia OMIM:613848 SERPINH1 871 HP:0002650 Scoliosis OMIM:613848 SERPINH1 871 HP:0000341 Narrow forehead OMIM:613848 SERPINH1 871 HP:0000023 Inguinal hernia OMIM:613848 SERPINH1 871 HP:0000938 Osteopenia OMIM:613848 SERPINH1 871 HP:0002857 Genu valgum OMIM:613848 SERPINH1 871 HP:0000347 Micrognathia OMIM:613848 SERPINH1 871 HP:0002983 Micromelia OMIM:613848 SERPINH1 871 HP:0000774 Narrow chest OMIM:613848 SERPINH1 871 HP:0004322 Short stature OMIM:613848 SERPINH1 871 HP:0000592 Blue sclerae OMIM:613848 SERPINH1 871 HP:0000348 High forehead OMIM:613848 SERPINH1 871 HP:0011800 Midface retrusion OMIM:613848 SERPINH1 871 HP:0001388 Joint laxity OMIM:613848 SERPINH1 871 HP:0000787 Nephrolithiasis OMIM:613848 SERPINH1 871 HP:0006528 Chronic lung disease OMIM:613848 SERPINH1 871 HP:0000883 Thin ribs OMIM:613848 SERPINH1 871 HP:0001620 High pitched voice OMIM:613848 SERPINH1 871 HP:0000272 Malar flattening OMIM:613848 SERPINH1 871 HP:0002761 Generalized joint laxity OMIM:613848 SERPINH1 871 HP:0000007 Autosomal recessive inheritance OMIM:613848 SERPINH1 871 HP:0000926 Platyspondyly OMIM:614020 TECR 9524 HP:0000007 Autosomal recessive inheritance OMIM:614020 TECR 9524 HP:0001249 Intellectual disability OMIM:616353 PARN 5073 HP:0008070 Sparse hair OMIM:616353 PARN 5073 HP:0001596 Alopecia OMIM:616353 PARN 5073 HP:0001321 Cerebellar hypoplasia OMIM:616353 PARN 5073 HP:0001263 Global developmental delay OMIM:616353 PARN 5073 HP:0008404 Nail dystrophy OMIM:616353 PARN 5073 HP:0001511 Intrauterine growth retardation OMIM:616353 PARN 5073 HP:0000670 Carious teeth OMIM:616353 PARN 5073 HP:0001000 Abnormality of skin pigmentation OMIM:616353 PARN 5073 HP:0001251 Ataxia OMIM:616353 PARN 5073 HP:0001508 Failure to thrive OMIM:616353 PARN 5073 HP:0000252 Microcephaly OMIM:602083 PCDH15 65217 HP:0000007 Autosomal recessive inheritance OMIM:602083 PCDH15 65217 HP:0001270 Motor delay OMIM:602083 PCDH15 65217 HP:0008527 Congenital sensorineural hearing impairment OMIM:602083 PCDH15 65217 HP:0000510 Retinitis pigmentosa OMIM:239300 PIGV 55650 HP:0001792 Small nail OMIM:239300 PIGV 55650 HP:0000219 Thin upper lip vermilion OMIM:239300 PIGV 55650 HP:0001249 Intellectual disability OMIM:239300 PIGV 55650 HP:0001344 Absent speech OMIM:239300 PIGV 55650 HP:0003155 Elevated alkaline phosphatase OMIM:239300 PIGV 55650 HP:0001090 Large eyes OMIM:239300 PIGV 55650 HP:0000238 Hydrocephalus OMIM:239300 PIGV 55650 HP:0001831 Short toe OMIM:239300 PIGV 55650 HP:0000407 Sensorineural hearing impairment OMIM:239300 PIGV 55650 HP:0010864 Intellectual disability, severe OMIM:239300 PIGV 55650 HP:0000204 Cleft upper lip OMIM:239300 PIGV 55650 HP:0001182 Tapered finger OMIM:239300 PIGV 55650 HP:0001250 Seizures OMIM:239300 PIGV 55650 HP:0009882 Short distal phalanx of finger OMIM:239300 PIGV 55650 HP:0002019 Constipation OMIM:239300 PIGV 55650 HP:0001545 Anteriorly placed anus OMIM:239300 PIGV 55650 HP:0000358 Posteriorly rotated ears OMIM:239300 PIGV 55650 HP:0011800 Midface retrusion OMIM:239300 PIGV 55650 HP:0010804 Tented upper lip vermilion OMIM:239300 PIGV 55650 HP:0000303 Mandibular prognathia OMIM:239300 PIGV 55650 HP:0001252 Muscular hypotonia OMIM:239300 PIGV 55650 HP:0002251 Aganglionic megacolon OMIM:239300 PIGV 55650 HP:0000322 Short philtrum OMIM:239300 PIGV 55650 HP:0000272 Malar flattening OMIM:239300 PIGV 55650 HP:0000175 Cleft palate OMIM:239300 PIGV 55650 HP:0000431 Wide nasal bridge OMIM:239300 PIGV 55650 HP:0001357 Plagiocephaly OMIM:239300 PIGV 55650 HP:0002714 Downturned corners of mouth OMIM:239300 PIGV 55650 HP:0000316 Hypertelorism OMIM:239300 PIGV 55650 HP:0000007 Autosomal recessive inheritance OMIM:239300 PIGV 55650 HP:0000455 Broad nasal tip OMIM:239300 PIGV 55650 HP:0001216 Delayed ossification of carpal bones OMIM:239300 PIGV 55650 HP:0000582 Upslanted palpebral fissure OMIM:239300 PIGV 55650 HP:0000637 Long palpebral fissure OMIM:239300 PIGV 55650 HP:0002553 Highly arched eyebrow OMIM:147060 STAT3 6774 HP:0002650 Scoliosis OMIM:147060 STAT3 6774 HP:0000989 Pruritus OMIM:147060 STAT3 6774 HP:0000280 Coarse facial features OMIM:147060 STAT3 6774 HP:0001363 Craniosynostosis OMIM:147060 STAT3 6774 HP:0100750 Atelectasis OMIM:147060 STAT3 6774 HP:0004370 Abnormality of temperature regulation OMIM:147060 STAT3 6774 HP:0001818 Paronychia OMIM:147060 STAT3 6774 HP:0011220 Prominent forehead OMIM:147060 STAT3 6774 HP:0002754 Osteomyelitis OMIM:147060 STAT3 6774 HP:0005425 Recurrent sinopulmonary infections OMIM:147060 STAT3 6774 HP:0000006 Autosomal dominant inheritance OMIM:147060 STAT3 6774 HP:0001382 Joint hypermobility OMIM:147060 STAT3 6774 HP:0003593 Infantile onset OMIM:147060 STAT3 6774 HP:0000316 Hypertelorism OMIM:147060 STAT3 6774 HP:0000366 Abnormality of the nose OMIM:147060 STAT3 6774 HP:0002665 Lymphoma OMIM:147060 STAT3 6774 HP:0006335 Persistence of primary teeth OMIM:147060 STAT3 6774 HP:0000445 Wide nose OMIM:147060 STAT3 6774 HP:0000976 Eczematoid dermatitis OMIM:147060 STAT3 6774 HP:0002757 Recurrent fractures OMIM:147060 STAT3 6774 HP:0000218 High palate OMIM:147060 STAT3 6774 HP:0002841 Recurrent fungal infections OMIM:147060 STAT3 6774 HP:0000988 Skin rash OMIM:147060 STAT3 6774 HP:0002007 Frontal bossing OMIM:147060 STAT3 6774 HP:0008066 Abnormal blistering of the skin OMIM:147060 STAT3 6774 HP:0200042 Skin ulcer OMIM:147060 STAT3 6774 HP:0004349 Reduced bone mineral density OMIM:147060 STAT3 6774 HP:0001879 Abnormality of eosinophils OMIM:147060 STAT3 6774 HP:0000388 Otitis media OMIM:147060 STAT3 6774 HP:0001231 Abnormality of the fingernails OMIM:147060 STAT3 6774 HP:0002726 Recurrent Staphylococcus aureus infections OMIM:147060 STAT3 6774 HP:0000230 Gingivitis OMIM:147060 STAT3 6774 HP:0003212 Increased IgE level OMIM:147060 STAT3 6774 HP:0000490 Deeply set eye OMIM:147060 STAT3 6774 HP:0000175 Cleft palate OMIM:147060 STAT3 6774 HP:0000684 Delayed eruption of teeth OMIM:147060 STAT3 6774 HP:0002617 Aneurysm OMIM:147060 STAT3 6774 HP:0000938 Osteopenia OMIM:147060 STAT3 6774 HP:0100658 Cellulitis OMIM:147060 STAT3 6774 HP:0001880 Eosinophilia OMIM:217000 C2 717 HP:0000979 Purpura OMIM:217000 C2 717 HP:0002725 Systemic lupus erythematosus OMIM:217000 C2 717 HP:0000007 Autosomal recessive inheritance OMIM:613554 VWF 7450 HP:0000978 Bruising susceptibility OMIM:613554 VWF 7450 HP:0003828 Variable expressivity OMIM:613554 VWF 7450 HP:0000421 Epistaxis OMIM:613554 VWF 7450 HP:0000006 Autosomal dominant inheritance OMIM:613554 VWF 7450 HP:0000007 Autosomal recessive inheritance OMIM:613554 VWF 7450 HP:0000132 Menorrhagia OMIM:249100 MEFV 4210 HP:0001744 Splenomegaly OMIM:249100 MEFV 4210 HP:0000083 Renal insufficiency OMIM:249100 MEFV 4210 HP:0000100 Nephrotic syndrome OMIM:249100 MEFV 4210 HP:0003565 Elevated erythrocyte sedimentation rate OMIM:249100 MEFV 4210 HP:0001369 Arthritis OMIM:249100 MEFV 4210 HP:0001974 Leukocytosis OMIM:249100 MEFV 4210 HP:0001954 Episodic fever OMIM:249100 MEFV 4210 HP:0002027 Abdominal pain OMIM:249100 MEFV 4210 HP:0001701 Pericarditis OMIM:249100 MEFV 4210 HP:0000007 Autosomal recessive inheritance OMIM:249100 MEFV 4210 HP:0002829 Arthralgia OMIM:249100 MEFV 4210 HP:0002240 Hepatomegaly OMIM:249100 MEFV 4210 HP:0002586 Peritonitis OMIM:249100 MEFV 4210 HP:0001917 Renal amyloidosis OMIM:249100 MEFV 4210 HP:0001287 Meningitis OMIM:249100 MEFV 4210 HP:0002102 Pleuritis OMIM:615271 FLRT3 23767 HP:0000939 Osteoporosis OMIM:615271 FLRT3 23767 HP:0000938 Osteopenia OMIM:615271 FLRT3 23767 HP:0000365 Hearing impairment OMIM:612337 ZBTB18 10472 HP:0000311 Round face OMIM:612337 ZBTB18 10472 HP:0000316 Hypertelorism OMIM:612337 ZBTB18 10472 HP:0001250 Seizures OMIM:612337 ZBTB18 10472 HP:0004322 Short stature OMIM:612337 ZBTB18 10472 HP:0001249 Intellectual disability OMIM:612337 ZBTB18 10472 HP:0000319 Smooth philtrum OMIM:612337 ZBTB18 10472 HP:0000219 Thin upper lip vermilion OMIM:612337 ZBTB18 10472 HP:0000006 Autosomal dominant inheritance OMIM:612337 ZBTB18 10472 HP:0000347 Micrognathia OMIM:612337 ZBTB18 10472 HP:0000377 Abnormality of the pinna OMIM:612337 ZBTB18 10472 HP:0000252 Microcephaly OMIM:612337 ZBTB18 10472 HP:0011220 Prominent forehead OMIM:612337 ZBTB18 10472 HP:0000369 Low-set ears OMIM:612337 ZBTB18 10472 HP:0003828 Variable expressivity OMIM:612337 ZBTB18 10472 HP:0001274 Agenesis of corpus callosum OMIM:612337 ZBTB18 10472 HP:0005280 Depressed nasal bridge OMIM:612337 ZBTB18 10472 HP:0001252 Muscular hypotonia OMIM:612337 ZBTB18 10472 HP:0000286 Epicanthus OMIM:490000 ZFY 7544 HP:0001939 Abnormality of metabolism/homeostasis OMIM:308990 CLCN5 1184 HP:0000114 Proximal tubulopathy OMIM:308990 CLCN5 1184 HP:0000092 Tubular atrophy OMIM:308990 CLCN5 1184 HP:0000083 Renal insufficiency OMIM:308990 CLCN5 1184 HP:0004322 Short stature OMIM:308990 CLCN5 1184 HP:0002907 Microscopic hematuria OMIM:308990 CLCN5 1184 HP:0000097 Focal segmental glomerulosclerosis OMIM:308990 CLCN5 1184 HP:0003126 Low-molecular-weight proteinuria OMIM:308990 CLCN5 1184 HP:0001419 X-linked recessive inheritance OMIM:308990 CLCN5 1184 HP:0003355 Aminoaciduria OMIM:308990 CLCN5 1184 HP:0003076 Glycosuria OMIM:308990 CLCN5 1184 HP:0002150 Hypercalciuria OMIM:308990 CLCN5 1184 HP:0003677 Slow progression OMIM:308990 CLCN5 1184 HP:0002148 Hypophosphatemia OMIM:308990 CLCN5 1184 HP:0000121 Nephrocalcinosis OMIM:616413 XPR1 9213 HP:0002354 Memory impairment OMIM:616413 XPR1 9213 HP:0001300 Parkinsonism OMIM:616413 XPR1 9213 HP:0001266 Choreoathetosis OMIM:616413 XPR1 9213 HP:0001250 Seizures OMIM:616413 XPR1 9213 HP:0000726 Dementia OMIM:616413 XPR1 9213 HP:0001260 Dysarthria OMIM:614748 ITGA3 3675 HP:0008404 Nail dystrophy OMIM:614748 ITGA3 3675 HP:0006530 Interstitial pulmonary disease OMIM:614748 ITGA3 3675 HP:0000100 Nephrotic syndrome OMIM:614748 ITGA3 3675 HP:0008066 Abnormal blistering of the skin OMIM:614748 ITGA3 3675 HP:0000097 Focal segmental glomerulosclerosis OMIM:614748 ITGA3 3675 HP:0002205 Recurrent respiratory infections OMIM:614748 ITGA3 3675 HP:0002098 Respiratory distress OMIM:608093 DPAGT1 1798 HP:0004209 Clinodactyly of the 5th finger OMIM:608093 DPAGT1 1798 HP:0002104 Apnea OMIM:608093 DPAGT1 1798 HP:0000718 Aggressive behavior OMIM:608093 DPAGT1 1798 HP:0000347 Micrognathia OMIM:608093 DPAGT1 1798 HP:0001371 Flexion contracture OMIM:608093 DPAGT1 1798 HP:0000952 Jaundice OMIM:608093 DPAGT1 1798 HP:0001263 Global developmental delay OMIM:608093 DPAGT1 1798 HP:0002093 Respiratory insufficiency OMIM:608093 DPAGT1 1798 HP:0001976 Reduced antithrombin III activity OMIM:608093 DPAGT1 1798 HP:0100543 Cognitive impairment OMIM:608093 DPAGT1 1798 HP:0010781 Skin dimples OMIM:608093 DPAGT1 1798 HP:0000518 Cataract OMIM:608093 DPAGT1 1798 HP:0001252 Muscular hypotonia OMIM:608093 DPAGT1 1798 HP:0003642 Type I transferrin isoform profile OMIM:608093 DPAGT1 1798 HP:0000252 Microcephaly OMIM:608093 DPAGT1 1798 HP:0003186 Inverted nipples OMIM:608093 DPAGT1 1798 HP:0001337 Tremor OMIM:608093 DPAGT1 1798 HP:0001347 Hyperreflexia OMIM:608093 DPAGT1 1798 HP:0001250 Seizures OMIM:608093 DPAGT1 1798 HP:0001249 Intellectual disability OMIM:608093 DPAGT1 1798 HP:0000954 Single transverse palmar crease OMIM:608093 DPAGT1 1798 HP:0002910 Elevated hepatic transaminases OMIM:608093 DPAGT1 1798 HP:0000577 Exotropia OMIM:608093 DPAGT1 1798 HP:0003075 Hypoproteinemia OMIM:608093 DPAGT1 1798 HP:0000639 Nystagmus OMIM:608093 DPAGT1 1798 HP:0000007 Autosomal recessive inheritance OMIM:608093 DPAGT1 1798 HP:0003828 Variable expressivity OMIM:608093 DPAGT1 1798 HP:0000028 Cryptorchidism OMIM:608093 DPAGT1 1798 HP:0003577 Congenital onset OMIM:614192 RNF135 84282 HP:0000494 Downslanted palpebral fissures OMIM:614192 RNF135 84282 HP:0000256 Macrocephaly OMIM:614192 RNF135 84282 HP:0000219 Thin upper lip vermilion OMIM:614192 RNF135 84282 HP:0000343 Long philtrum OMIM:614192 RNF135 84282 HP:0000337 Broad forehead OMIM:614192 RNF135 84282 HP:0000455 Broad nasal tip OMIM:614192 RNF135 84282 HP:0000006 Autosomal dominant inheritance OMIM:614192 RNF135 84282 HP:0001999 Abnormal facial shape OMIM:613610 WDR35 57539 HP:0008905 Rhizomelia OMIM:613610 WDR35 57539 HP:0000268 Dolichocephaly OMIM:613610 WDR35 57539 HP:0000691 Microdontia OMIM:613610 WDR35 57539 HP:0001363 Craniosynostosis OMIM:613610 WDR35 57539 HP:0000232 Everted lower lip vermilion OMIM:613610 WDR35 57539 HP:0000369 Low-set ears OMIM:613610 WDR35 57539 HP:0001159 Syndactyly OMIM:613610 WDR35 57539 HP:0000774 Narrow chest OMIM:613610 WDR35 57539 HP:0000023 Inguinal hernia OMIM:613610 WDR35 57539 HP:0000687 Widely spaced teeth OMIM:613610 WDR35 57539 HP:0002007 Frontal bossing OMIM:613610 WDR35 57539 HP:0001388 Joint laxity OMIM:613610 WDR35 57539 HP:0000506 Telecanthus OMIM:613610 WDR35 57539 HP:0000581 Blepharophimosis OMIM:613610 WDR35 57539 HP:0000007 Autosomal recessive inheritance OMIM:613610 WDR35 57539 HP:0001156 Brachydactyly syndrome OMIM:613610 WDR35 57539 HP:0000968 Ectodermal dysplasia OMIM:613610 WDR35 57539 HP:0008070 Sparse hair OMIM:613610 WDR35 57539 HP:0000377 Abnormality of the pinna OMIM:613610 WDR35 57539 HP:0000470 Short neck OMIM:613610 WDR35 57539 HP:0000767 Pectus excavatum OMIM:613610 WDR35 57539 HP:0000316 Hypertelorism OMIM:608629 AHI1 54806 HP:0001251 Ataxia OMIM:608629 AHI1 54806 HP:0100951 Enlarged fossa interpeduncularis OMIM:608629 AHI1 54806 HP:0000286 Epicanthus OMIM:608629 AHI1 54806 HP:0000639 Nystagmus OMIM:608629 AHI1 54806 HP:0002553 Highly arched eyebrow OMIM:608629 AHI1 54806 HP:0002790 Neonatal breathing dysregulation OMIM:608629 AHI1 54806 HP:0000512 Abnormal electroretinogram OMIM:608629 AHI1 54806 HP:0000194 Open mouth OMIM:608629 AHI1 54806 HP:0001425 Heterogeneous OMIM:608629 AHI1 54806 HP:0001320 Cerebellar vermis hypoplasia OMIM:608629 AHI1 54806 HP:0000431 Wide nasal bridge OMIM:608629 AHI1 54806 HP:0000369 Low-set ears OMIM:608629 AHI1 54806 HP:0001249 Intellectual disability OMIM:608629 AHI1 54806 HP:0000556 Retinal dystrophy OMIM:608629 AHI1 54806 HP:0000580 Pigmentary retinopathy OMIM:608629 AHI1 54806 HP:0000090 Nephronophthisis OMIM:608629 AHI1 54806 HP:0001252 Muscular hypotonia OMIM:608629 AHI1 54806 HP:0002876 Episodic tachypnea OMIM:608629 AHI1 54806 HP:0001270 Motor delay OMIM:608629 AHI1 54806 HP:0002419 Molar tooth sign on MRI OMIM:608629 AHI1 54806 HP:0000508 Ptosis OMIM:608629 AHI1 54806 HP:0000505 Visual impairment OMIM:608629 AHI1 54806 HP:0000463 Anteverted nares OMIM:608629 AHI1 54806 HP:0000007 Autosomal recessive inheritance OMIM:608629 AHI1 54806 HP:0011933 Elongated superior cerebellar peduncle OMIM:608629 AHI1 54806 HP:0003774 Stage 5 chronic kidney disease OMIM:608629 AHI1 54806 HP:0002871 Central apnea OMIM:608629 AHI1 54806 HP:0000657 Oculomotor apraxia OMIM:181350 LMNA 4000 HP:0001417 X-linked inheritance OMIM:181350 LMNA 4000 HP:0004631 Decreased cervical spine flexion due to contractures of posterior cervical muscles OMIM:181350 LMNA 4000 HP:0003560 Muscular dystrophy OMIM:181350 LMNA 4000 HP:0009049 Peroneal muscle atrophy OMIM:181350 LMNA 4000 HP:0003690 Limb muscle weakness OMIM:181350 LMNA 4000 HP:0001644 Dilated cardiomyopathy OMIM:181350 LMNA 4000 HP:0008180 Mildly elevated creatine phosphokinase OMIM:181350 LMNA 4000 HP:0003691 Scapular winging OMIM:181350 LMNA 4000 HP:0000006 Autosomal dominant inheritance OMIM:181350 LMNA 4000 HP:0011675 Arrhythmia OMIM:181350 LMNA 4000 HP:0005997 Restricted neck movement due to contractures OMIM:181350 LMNA 4000 HP:0001771 Achilles tendon contracture OMIM:181350 LMNA 4000 HP:0003236 Elevated serum creatine phosphokinase OMIM:181350 LMNA 4000 HP:0002987 Elbow flexion contracture OMIM:181350 LMNA 4000 HP:0003828 Variable expressivity OMIM:181350 LMNA 4000 HP:0003325 Limb-girdle muscle weakness OMIM:181350 LMNA 4000 HP:0003306 Spinal rigidity OMIM:181350 LMNA 4000 HP:0001645 Sudden cardiac death OMIM:181350 LMNA 4000 HP:0003677 Slow progression OMIM:181350 LMNA 4000 HP:0008944 Distal lower limb amyotrophy OMIM:181350 LMNA 4000 HP:0011727 Peroneal muscle weakness OMIM:181350 LMNA 4000 HP:0006785 Limb-girdle muscular dystrophy OMIM:613951 SLX4 84464 HP:0002860 Squamous cell carcinoma OMIM:613951 SLX4 84464 HP:0009777 Absent thumb OMIM:613951 SLX4 84464 HP:0000365 Hearing impairment OMIM:613951 SLX4 84464 HP:0000581 Blepharophimosis OMIM:613951 SLX4 84464 HP:0012745 Short palpebral fissure OMIM:613951 SLX4 84464 HP:0000414 Bulbous nose OMIM:613951 SLX4 84464 HP:0001903 Anemia OMIM:613951 SLX4 84464 HP:0000347 Micrognathia OMIM:613951 SLX4 84464 HP:0000125 Pelvic kidney OMIM:613951 SLX4 84464 HP:0004322 Short stature OMIM:613951 SLX4 84464 HP:0000957 Cafe-au-lait spot OMIM:613951 SLX4 84464 HP:0002984 Hypoplasia of the radius OMIM:613951 SLX4 84464 HP:0003828 Variable expressivity OMIM:613951 SLX4 84464 HP:0000007 Autosomal recessive inheritance OMIM:613951 SLX4 84464 HP:0000085 Horseshoe kidney OMIM:613951 SLX4 84464 HP:0001045 Vitiligo OMIM:613951 SLX4 84464 HP:0000028 Cryptorchidism OMIM:613951 SLX4 84464 HP:0009778 Short thumb OMIM:613951 SLX4 84464 HP:0000252 Microcephaly OMIM:218700 PAX8 7849 HP:0000853 Goiter OMIM:218700 PAX8 7849 HP:0001537 Umbilical hernia OMIM:218700 PAX8 7849 HP:0003270 Abdominal distention OMIM:218700 PAX8 7849 HP:0008191 Thyroid agenesis OMIM:218700 PAX8 7849 HP:0001615 Hoarse cry OMIM:218700 PAX8 7849 HP:0002360 Sleep disturbance OMIM:218700 PAX8 7849 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:218700 PAX8 7849 HP:0000851 Congenital hypothyroidism OMIM:218700 PAX8 7849 HP:0004491 Large posterior fontanelle OMIM:218700 PAX8 7849 HP:0001254 Lethargy OMIM:218700 PAX8 7849 HP:0100028 Ectopic thyroid OMIM:218700 PAX8 7849 HP:0008872 Feeding difficulties in infancy OMIM:218700 PAX8 7849 HP:0000280 Coarse facial features OMIM:218700 PAX8 7849 HP:0002019 Constipation OMIM:218700 PAX8 7849 HP:0001510 Growth delay OMIM:218700 PAX8 7849 HP:0005990 Thyroid hypoplasia OMIM:218700 PAX8 7849 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature OMIM:218700 PAX8 7849 HP:0002045 Hypothermia OMIM:218700 PAX8 7849 HP:0000157 Abnormality of the tongue OMIM:218700 PAX8 7849 HP:0000158 Macroglossia OMIM:218700 PAX8 7849 HP:0001252 Muscular hypotonia OMIM:218700 PAX8 7849 HP:0001392 Abnormality of the liver OMIM:218700 PAX8 7849 HP:0001662 Bradycardia OMIM:218700 PAX8 7849 HP:0002750 Delayed skeletal maturation OMIM:218700 PAX8 7849 HP:0000820 Abnormality of the thyroid gland OMIM:218700 PAX8 7849 HP:0002925 Thyroid-stimulating hormone excess OMIM:218700 PAX8 7849 HP:0002904 Hyperbilirubinemia OMIM:218700 PAX8 7849 HP:0000958 Dry skin OMIM:614104 DYRK1A 1859 HP:0011344 Severe global developmental delay OMIM:614104 DYRK1A 1859 HP:0000252 Microcephaly OMIM:614104 DYRK1A 1859 HP:0001822 Hallux valgus OMIM:614104 DYRK1A 1859 HP:0000490 Deeply set eye OMIM:614104 DYRK1A 1859 HP:0000006 Autosomal dominant inheritance OMIM:614104 DYRK1A 1859 HP:0001531 Failure to thrive in infancy OMIM:614104 DYRK1A 1859 HP:0000341 Narrow forehead OMIM:614104 DYRK1A 1859 HP:0000717 Autism OMIM:614104 DYRK1A 1859 HP:0002373 Febrile seizures OMIM:614104 DYRK1A 1859 HP:0002120 Cerebral cortical atrophy OMIM:614104 DYRK1A 1859 HP:0001249 Intellectual disability OMIM:614926 HARS2 23438 HP:0000007 Autosomal recessive inheritance OMIM:614926 HARS2 23438 HP:0000407 Sensorineural hearing impairment OMIM:613812 CYP7B1 9420 HP:0012115 Hepatitis OMIM:613812 CYP7B1 9420 HP:0011985 Acholic stools OMIM:613812 CYP7B1 9420 HP:0001406 Intrahepatic cholestasis OMIM:613812 CYP7B1 9420 HP:0002240 Hepatomegaly OMIM:613812 CYP7B1 9420 HP:0000952 Jaundice OMIM:613812 CYP7B1 9420 HP:0001744 Splenomegaly OMIM:613812 CYP7B1 9420 HP:0003256 Abnormality of the coagulation cascade OMIM:613812 CYP7B1 9420 HP:0003155 Elevated alkaline phosphatase OMIM:613812 CYP7B1 9420 HP:0000989 Pruritus OMIM:613812 CYP7B1 9420 HP:0002612 Congenital hepatic fibrosis OMIM:613812 CYP7B1 9420 HP:0002570 Steatorrhea OMIM:613812 CYP7B1 9420 HP:0001394 Cirrhosis OMIM:613812 CYP7B1 9420 HP:0001399 Hepatic failure OMIM:613812 CYP7B1 9420 HP:0001508 Failure to thrive OMIM:613812 CYP7B1 9420 HP:0002910 Elevated hepatic transaminases OMIM:613812 CYP7B1 9420 HP:0003623 Neonatal onset OMIM:613812 CYP7B1 9420 HP:0000007 Autosomal recessive inheritance OMIM:613812 CYP7B1 9420 HP:0002014 Diarrhea OMIM:613812 CYP7B1 9420 HP:0002239 Gastrointestinal hemorrhage OMIM:613501 CD79A 973 HP:0001875 Neutropenia OMIM:613501 CD79A 973 HP:0000007 Autosomal recessive inheritance OMIM:613501 CD79A 973 HP:0002014 Diarrhea OMIM:613501 CD79A 973 HP:0002718 Recurrent bacterial infections OMIM:613501 CD79A 973 HP:0004432 Agammaglobulinemia OMIM:613501 CD79A 973 HP:0001508 Failure to thrive OMIM:613501 CD79A 973 HP:0002837 Recurrent bronchitis OMIM:613501 CD79A 973 HP:0000403 Recurrent otitis media OMIM:206920 SMOC1 64093 HP:0002982 Tibial bowing OMIM:206920 SMOC1 64093 HP:0000581 Blepharophimosis OMIM:206920 SMOC1 64093 HP:0005048 Synostosis of carpal bones OMIM:206920 SMOC1 64093 HP:0001770 Toe syndactyly OMIM:206920 SMOC1 64093 HP:0002007 Frontal bossing OMIM:206920 SMOC1 64093 HP:0000954 Single transverse palmar crease OMIM:206920 SMOC1 64093 HP:0001161 Hand polydactyly OMIM:206920 SMOC1 64093 HP:0012745 Short palpebral fissure OMIM:206920 SMOC1 64093 HP:0001249 Intellectual disability OMIM:206920 SMOC1 64093 HP:0001883 Talipes OMIM:206920 SMOC1 64093 HP:0001180 Oligodactyly (hands) OMIM:206920 SMOC1 64093 HP:0001849 Oligodactyly (feet) OMIM:206920 SMOC1 64093 HP:0001171 Split hand OMIM:206920 SMOC1 64093 HP:0001852 Sandal gap OMIM:206920 SMOC1 64093 HP:0100542 Abnormal localization of kidney OMIM:206920 SMOC1 64093 HP:0000648 Optic atrophy OMIM:206920 SMOC1 64093 HP:0003196 Short nose OMIM:206920 SMOC1 64093 HP:0004348 Abnormality of bone mineral density OMIM:206920 SMOC1 64093 HP:0000272 Malar flattening OMIM:206920 SMOC1 64093 HP:0000568 Microphthalmos OMIM:206920 SMOC1 64093 HP:0000175 Cleft palate OMIM:206920 SMOC1 64093 HP:0005867 Fused fourth and fifth metacarpals OMIM:206920 SMOC1 64093 HP:0000007 Autosomal recessive inheritance OMIM:206920 SMOC1 64093 HP:0001626 Abnormality of the cardiovascular system OMIM:206920 SMOC1 64093 HP:0000534 Abnormality of the eyebrow OMIM:206920 SMOC1 64093 HP:0001162 Postaxial hand polydactyly OMIM:206920 SMOC1 64093 HP:0006101 Finger syndactyly OMIM:206920 SMOC1 64093 HP:0001595 Abnormality of the hair OMIM:206920 SMOC1 64093 HP:0002827 Hip dislocation OMIM:206920 SMOC1 64093 HP:0000278 Retrognathia OMIM:206920 SMOC1 64093 HP:0100543 Cognitive impairment OMIM:206920 SMOC1 64093 HP:0001172 Abnormality of the thumb OMIM:206920 SMOC1 64093 HP:0002992 Abnormality of the tibia OMIM:206920 SMOC1 64093 HP:0000204 Cleft upper lip OMIM:206920 SMOC1 64093 HP:0001830 Postaxial foot polydactyly OMIM:206920 SMOC1 64093 HP:0000369 Low-set ears OMIM:206920 SMOC1 64093 HP:0000218 High palate OMIM:206920 SMOC1 64093 HP:0001762 Talipes equinovarus OMIM:206920 SMOC1 64093 HP:0003038 Fibular hypoplasia OMIM:206920 SMOC1 64093 HP:0008897 Postnatal growth retardation OMIM:206920 SMOC1 64093 HP:0000028 Cryptorchidism OMIM:206920 SMOC1 64093 HP:0003312 Abnormal form of the vertebral bodies OMIM:206920 SMOC1 64093 HP:0011220 Prominent forehead OMIM:206920 SMOC1 64093 HP:0005293 Venous insufficiency OMIM:206920 SMOC1 64093 HP:0001360 Holoprosencephaly OMIM:206920 SMOC1 64093 HP:0000454 Flared nostrils OMIM:206920 SMOC1 64093 HP:0000528 Anophthalmia OMIM:206920 SMOC1 64093 HP:0004209 Clinodactyly of the 5th finger OMIM:206920 SMOC1 64093 HP:0008368 Tarsal synostosis OMIM:206920 SMOC1 64093 HP:0001215 Camptodactyly of 2nd-5th fingers OMIM:206920 SMOC1 64093 HP:0001163 Abnormality of the metacarpal bones OMIM:206920 SMOC1 64093 HP:0002991 Abnormality of the fibula OMIM:206920 SMOC1 64093 HP:0002002 Deep philtrum OMIM:206920 SMOC1 64093 HP:0005280 Depressed nasal bridge OMIM:206920 SMOC1 64093 HP:0000238 Hydrocephalus OMIM:206920 SMOC1 64093 HP:0000347 Micrognathia OMIM:206920 SMOC1 64093 HP:0000494 Downslanted palpebral fissures OMIM:206920 SMOC1 64093 HP:0000358 Posteriorly rotated ears OMIM:206920 SMOC1 64093 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:614669 PLCB4 5332 HP:0000689 Dental malocclusion OMIM:614669 PLCB4 5332 HP:0009088 Speech articulation difficulties OMIM:614669 PLCB4 5332 HP:0000007 Autosomal recessive inheritance OMIM:614669 PLCB4 5332 HP:0000311 Round face OMIM:614669 PLCB4 5332 HP:0007627 Mandibular condyle aplasia OMIM:614669 PLCB4 5332 HP:0000358 Posteriorly rotated ears OMIM:614669 PLCB4 5332 HP:0000160 Narrow mouth OMIM:614669 PLCB4 5332 HP:0008559 Hypoplastic superior helix OMIM:614669 PLCB4 5332 HP:0000369 Low-set ears OMIM:614669 PLCB4 5332 HP:0000162 Glossoptosis OMIM:614669 PLCB4 5332 HP:0002104 Apnea OMIM:614669 PLCB4 5332 HP:0000006 Autosomal dominant inheritance OMIM:614669 PLCB4 5332 HP:0008537 Cleft at the superior portion of the pinna OMIM:614669 PLCB4 5332 HP:0000256 Macrocephaly OMIM:614669 PLCB4 5332 HP:0004453 Overfolding of the superior helices OMIM:614669 PLCB4 5332 HP:0000175 Cleft palate OMIM:614669 PLCB4 5332 HP:0000678 Dental crowding OMIM:614669 PLCB4 5332 HP:0007628 Mandibular condyle hypoplasia OMIM:614165 SDHA 6389 HP:0002668 Paraganglioma OMIM:614165 SDHA 6389 HP:0000006 Autosomal dominant inheritance OMIM:615574 ASNS 440 HP:0001176 Large hands OMIM:615574 ASNS 440 HP:0000252 Microcephaly OMIM:615574 ASNS 440 HP:0001263 Global developmental delay OMIM:615574 ASNS 440 HP:0000007 Autosomal recessive inheritance OMIM:615574 ASNS 440 HP:0000400 Macrotia OMIM:615574 ASNS 440 HP:0001833 Long foot OMIM:615574 ASNS 440 HP:0001298 Encephalopathy OMIM:615574 ASNS 440 HP:0002119 Ventriculomegaly OMIM:615574 ASNS 440 HP:0100704 Cortical visual impairment OMIM:615574 ASNS 440 HP:0001347 Hyperreflexia OMIM:615574 ASNS 440 HP:0009879 Cortical gyral simplification OMIM:615574 ASNS 440 HP:0008936 Muscular hypotonia of the trunk OMIM:615574 ASNS 440 HP:0002539 Cortical dysplasia OMIM:615574 ASNS 440 HP:0000340 Sloping forehead OMIM:615574 ASNS 440 HP:0002521 Hypsarrhythmia OMIM:615574 ASNS 440 HP:0001250 Seizures OMIM:615574 ASNS 440 HP:0012110 Hypoplasia of the pons OMIM:615574 ASNS 440 HP:0012448 Delayed myelination OMIM:615574 ASNS 440 HP:0002267 Exaggerated startle response OMIM:615574 ASNS 440 HP:0001321 Cerebellar hypoplasia OMIM:615574 ASNS 440 HP:0001508 Failure to thrive OMIM:615574 ASNS 440 HP:0002079 Hypoplasia of the corpus callosum OMIM:615574 ASNS 440 HP:0011968 Feeding difficulties OMIM:615574 ASNS 440 HP:0003676 Progressive disorder OMIM:615574 ASNS 440 HP:0002093 Respiratory insufficiency OMIM:615574 ASNS 440 HP:0000347 Micrognathia OMIM:615574 ASNS 440 HP:0002510 Spastic tetraplegia OMIM:257220 NPC1 4864 HP:0001250 Seizures OMIM:257220 NPC1 4864 HP:0001263 Global developmental delay OMIM:257220 NPC1 4864 HP:0000007 Autosomal recessive inheritance OMIM:257220 NPC1 4864 HP:0002015 Dysphagia OMIM:257220 NPC1 4864 HP:0004333 Bone-marrow foam cells OMIM:257220 NPC1 4864 HP:0000726 Dementia OMIM:257220 NPC1 4864 HP:0000709 Psychosis OMIM:257220 NPC1 4864 HP:0002240 Hepatomegaly OMIM:257220 NPC1 4864 HP:0006583 Fatal liver failure in infancy OMIM:257220 NPC1 4864 HP:0003812 Phenotypic variability OMIM:257220 NPC1 4864 HP:0002529 Neuronal loss in central nervous system OMIM:257220 NPC1 4864 HP:0000511 Vertical supranuclear gaze palsy OMIM:257220 NPC1 4864 HP:0003640 Foam cells in visceral organs and CNS OMIM:257220 NPC1 4864 HP:0003674 Onset OMIM:257220 NPC1 4864 HP:0006579 Prolonged neonatal jaundice OMIM:257220 NPC1 4864 HP:0001744 Splenomegaly OMIM:257220 NPC1 4864 HP:0002371 Loss of speech OMIM:257220 NPC1 4864 HP:0001249 Intellectual disability OMIM:257220 NPC1 4864 HP:0003349 Low cholesterol esterification rates OMIM:257220 NPC1 4864 HP:0001252 Muscular hypotonia OMIM:257220 NPC1 4864 HP:0002524 Cataplexy OMIM:257220 NPC1 4864 HP:0003464 Abnormal cholesterol homeostasis OMIM:257220 NPC1 4864 HP:0001332 Dystonia OMIM:257220 NPC1 4864 HP:0001260 Dysarthria OMIM:257220 NPC1 4864 HP:0001982 Sea-blue histiocytosis OMIM:257220 NPC1 4864 HP:0001251 Ataxia OMIM:257220 NPC1 4864 HP:0001791 Fetal ascites OMIM:257220 NPC1 4864 HP:0001257 Spasticity OMIM:257220 NPC1 4864 HP:0002185 Neurofibrillary tangles OMIM:615983 BBS5 129880 HP:0010442 Polydactyly OMIM:615983 BBS5 129880 HP:0000135 Hypogonadism OMIM:615983 BBS5 129880 HP:0100543 Cognitive impairment OMIM:615983 BBS5 129880 HP:0000510 Retinitis pigmentosa OMIM:615983 BBS5 129880 HP:0003241 External genital hypoplasia OMIM:615983 BBS5 129880 HP:0001159 Syndactyly OMIM:615983 BBS5 129880 HP:0001156 Brachydactyly syndrome OMIM:615983 BBS5 129880 HP:0001513 Obesity OMIM:615983 BBS5 129880 HP:0007754 Macular dystrophy OMIM:117210 BEAN1 146227 HP:0002066 Gait ataxia OMIM:117210 BEAN1 146227 HP:0000407 Sensorineural hearing impairment OMIM:117210 BEAN1 146227 HP:0002070 Limb ataxia OMIM:117210 BEAN1 146227 HP:0001272 Cerebellar atrophy OMIM:117210 BEAN1 146227 HP:0001260 Dysarthria OMIM:117210 BEAN1 146227 HP:0001251 Ataxia OMIM:117210 BEAN1 146227 HP:0003584 Late onset OMIM:117210 BEAN1 146227 HP:0007979 Gaze-evoked horizontal nystagmus OMIM:117210 BEAN1 146227 HP:0000006 Autosomal dominant inheritance OMIM:108145 PIEZO2 63895 HP:0000767 Pectus excavatum OMIM:108145 PIEZO2 63895 HP:0006251 Limited wrist extension OMIM:108145 PIEZO2 63895 HP:0010751 Chin dimple OMIM:108145 PIEZO2 63895 HP:0100490 Camptodactyly of finger OMIM:108145 PIEZO2 63895 HP:0000286 Epicanthus OMIM:108145 PIEZO2 63895 HP:0000602 Ophthalmoplegia OMIM:108145 PIEZO2 63895 HP:0005879 Congenital finger flexion contractures OMIM:108145 PIEZO2 63895 HP:0006184 Decreased palmar creases OMIM:108145 PIEZO2 63895 HP:0000512 Abnormal electroretinogram OMIM:108145 PIEZO2 63895 HP:0000540 Hypermetropia OMIM:108145 PIEZO2 63895 HP:0000581 Blepharophimosis OMIM:108145 PIEZO2 63895 HP:0000490 Deeply set eye OMIM:108145 PIEZO2 63895 HP:0000563 Keratoconus OMIM:108145 PIEZO2 63895 HP:0004299 Hernia of the abdominal wall OMIM:108145 PIEZO2 63895 HP:0001883 Talipes OMIM:108145 PIEZO2 63895 HP:0009921 Duane anomaly OMIM:108145 PIEZO2 63895 HP:0003725 Firm muscles OMIM:108145 PIEZO2 63895 HP:0000597 Ophthalmoparesis OMIM:108145 PIEZO2 63895 HP:0000400 Macrotia OMIM:108145 PIEZO2 63895 HP:0004673 Decreased facial expression OMIM:108145 PIEZO2 63895 HP:0000505 Visual impairment OMIM:108145 PIEZO2 63895 HP:0000486 Strabismus OMIM:108145 PIEZO2 63895 HP:0001776 Bilateral talipes equinovarus OMIM:108145 PIEZO2 63895 HP:0002804 Arthrogryposis multiplex congenita OMIM:108145 PIEZO2 63895 HP:0000006 Autosomal dominant inheritance OMIM:108145 PIEZO2 63895 HP:0002091 Restrictive lung disease OMIM:108145 PIEZO2 63895 HP:0004322 Short stature OMIM:108145 PIEZO2 63895 HP:0003199 Decreased muscle mass OMIM:108145 PIEZO2 63895 HP:0000508 Ptosis OMIM:108145 PIEZO2 63895 HP:0000648 Optic atrophy OMIM:108145 PIEZO2 63895 HP:0001119 Keratoglobus OMIM:108145 PIEZO2 63895 HP:0000325 Triangular face OMIM:108145 PIEZO2 63895 HP:0007703 Abnormal retinal pigmentation OMIM:108145 PIEZO2 63895 HP:0000411 Protruding ear OMIM:108145 PIEZO2 63895 HP:0005684 Distal arthrogryposis OMIM:108145 PIEZO2 63895 HP:0001166 Arachnodactyly OMIM:108145 PIEZO2 63895 HP:0004097 Deviation of finger OMIM:108145 PIEZO2 63895 HP:0000218 High palate OMIM:108145 PIEZO2 63895 HP:0000483 Astigmatism OMIM:108145 PIEZO2 63895 HP:0030084 Clinodactyly OMIM:108145 PIEZO2 63895 HP:0001547 Abnormality of the rib cage OMIM:108145 PIEZO2 63895 HP:0002650 Scoliosis OMIM:108145 PIEZO2 63895 HP:0001376 Limitation of joint mobility OMIM:108145 PIEZO2 63895 HP:0010489 Absent palmar crease OMIM:108145 PIEZO2 63895 HP:0006109 Absent phalangeal crease OMIM:614879 PEX7 5191 HP:0000007 Autosomal recessive inheritance OMIM:614879 PEX7 5191 HP:0001249 Intellectual disability OMIM:614879 PEX7 5191 HP:0000510 Retinitis pigmentosa OMIM:614879 PEX7 5191 HP:0010571 Elevated levels of phytanic acid OMIM:614879 PEX7 5191 HP:0000518 Cataract OMIM:614879 PEX7 5191 HP:0000407 Sensorineural hearing impairment OMIM:614974 CYP26C1 340665 HP:0000007 Autosomal recessive inheritance OMIM:170995 ABCD3 5825 HP:0002104 Apnea OMIM:170995 ABCD3 5825 HP:0000954 Single transverse palmar crease OMIM:170995 ABCD3 5825 HP:0000778 Hypoplasia of the thymus OMIM:170995 ABCD3 5825 HP:0000347 Micrognathia OMIM:170995 ABCD3 5825 HP:0000311 Round face OMIM:170995 ABCD3 5825 HP:0001250 Seizures OMIM:170995 ABCD3 5825 HP:0004734 Renal cortical microcysts OMIM:170995 ABCD3 5825 HP:0000057 Clitoromegaly OMIM:170995 ABCD3 5825 HP:0000286 Epicanthus OMIM:170995 ABCD3 5825 HP:0001511 Intrauterine growth retardation OMIM:170995 ABCD3 5825 HP:0009473 Joint contracture of the hand OMIM:170995 ABCD3 5825 HP:0000272 Malar flattening OMIM:170995 ABCD3 5825 HP:0001762 Talipes equinovarus OMIM:170995 ABCD3 5825 HP:0000369 Low-set ears OMIM:170995 ABCD3 5825 HP:0000316 Hypertelorism OMIM:170995 ABCD3 5825 HP:0002033 Poor suck OMIM:170995 ABCD3 5825 HP:0001252 Muscular hypotonia OMIM:170995 ABCD3 5825 HP:0002564 Malformation of the heart and great vessels OMIM:170995 ABCD3 5825 HP:0001088 Brushfield spots OMIM:170995 ABCD3 5825 HP:0001249 Intellectual disability OMIM:170995 ABCD3 5825 HP:0002240 Hepatomegaly OMIM:170995 ABCD3 5825 HP:0100540 Palpebral edema OMIM:170995 ABCD3 5825 HP:0001840 Metatarsus adductus OMIM:170995 ABCD3 5825 HP:0002967 Cubitus valgus OMIM:170995 ABCD3 5825 HP:0000262 Turricephaly OMIM:170995 ABCD3 5825 HP:0000518 Cataract OMIM:170995 ABCD3 5825 HP:0000268 Dolichocephaly OMIM:170995 ABCD3 5825 HP:0000580 Pigmentary retinopathy OMIM:170995 ABCD3 5825 HP:0000582 Upslanted palpebral fissure OMIM:170995 ABCD3 5825 HP:0000028 Cryptorchidism OMIM:170995 ABCD3 5825 HP:0011039 Abnormality of the helix OMIM:170995 ABCD3 5825 HP:0007759 Opacification of the corneal stroma OMIM:170995 ABCD3 5825 HP:0001284 Areflexia OMIM:170995 ABCD3 5825 HP:0000239 Large fontanelles OMIM:170995 ABCD3 5825 HP:0003819 Death in childhood OMIM:170995 ABCD3 5825 HP:0000175 Cleft palate OMIM:170995 ABCD3 5825 HP:0001433 Hepatosplenomegaly OMIM:170995 ABCD3 5825 HP:0001401 Intrahepatic biliary dysgenesis OMIM:170995 ABCD3 5825 HP:0001093 Optic nerve dysplasia OMIM:170995 ABCD3 5825 HP:0000952 Jaundice OMIM:170995 ABCD3 5825 HP:0002764 Stippled chondral calcification OMIM:170995 ABCD3 5825 HP:0000348 High forehead OMIM:170995 ABCD3 5825 HP:0001508 Failure to thrive OMIM:253300 SMN1 6606 HP:0007269 Spinal muscular atrophy OMIM:253300 SMN1 6606 HP:0001284 Areflexia OMIM:253300 SMN1 6606 HP:0001631 Defect in the atrial septum OMIM:253300 SMN1 6606 HP:0000007 Autosomal recessive inheritance OMIM:253300 SMN1 6606 HP:0003445 EMG: neuropathic changes OMIM:253300 SMN1 6606 HP:0002205 Recurrent respiratory infections OMIM:253300 SMN1 6606 HP:0001629 Ventricular septal defect OMIM:253300 SMN1 6606 HP:0001308 Tongue fasciculations OMIM:253300 SMN1 6606 HP:0007126 Proximal amyotrophy OMIM:253300 SMN1 6606 HP:0001558 Decreased fetal movement OMIM:253300 SMN1 6606 HP:0008994 Proximal muscle weakness in lower limbs OMIM:253300 SMN1 6606 HP:0002878 Respiratory failure OMIM:204870 TACSTD2 4070 HP:0000622 Blurred vision OMIM:204870 TACSTD2 4070 HP:0000613 Photophobia OMIM:204870 TACSTD2 4070 HP:0011463 Childhood onset OMIM:204870 TACSTD2 4070 HP:0000007 Autosomal recessive inheritance OMIM:204870 TACSTD2 4070 HP:0001131 Corneal dystrophy OMIM:614480 GPD1 2819 HP:0001397 Hepatic steatosis OMIM:614480 GPD1 2819 HP:0003593 Infantile onset OMIM:614480 GPD1 2819 HP:0001395 Hepatic fibrosis OMIM:614480 GPD1 2819 HP:0002240 Hepatomegaly OMIM:614480 GPD1 2819 HP:0004322 Short stature OMIM:614480 GPD1 2819 HP:0000007 Autosomal recessive inheritance OMIM:614480 GPD1 2819 HP:0002155 Hypertriglyceridemia OMIM:614480 GPD1 2819 HP:0001744 Splenomegaly OMIM:614480 GPD1 2819 HP:0002910 Elevated hepatic transaminases OMIM:613091 DYNC2H1 79659 HP:0000773 Short ribs OMIM:613091 DYNC2H1 79659 HP:0100259 Postaxial polydactyly OMIM:613091 DYNC2H1 79659 HP:0010579 Cone-shaped epiphysis OMIM:613091 DYNC2H1 79659 HP:0003016 Metaphyseal widening OMIM:613091 DYNC2H1 79659 HP:0010297 Bifid tongue OMIM:613091 DYNC2H1 79659 HP:0010984 Digenic inheritance OMIM:613091 DYNC2H1 79659 HP:0001274 Agenesis of corpus callosum OMIM:613091 DYNC2H1 79659 HP:0002980 Femoral bowing OMIM:613091 DYNC2H1 79659 HP:0000888 Horizontal ribs OMIM:613091 DYNC2H1 79659 HP:0002350 Cerebellar cyst OMIM:613091 DYNC2H1 79659 HP:0000204 Cleft upper lip OMIM:613091 DYNC2H1 79659 HP:0000110 Renal dysplasia OMIM:613091 DYNC2H1 79659 HP:0001156 Brachydactyly syndrome OMIM:613091 DYNC2H1 79659 HP:0000007 Autosomal recessive inheritance OMIM:613091 DYNC2H1 79659 HP:0001762 Talipes equinovarus OMIM:613091 DYNC2H1 79659 HP:0005054 Metaphyseal spurs OMIM:613091 DYNC2H1 79659 HP:0000062 Ambiguous genitalia OMIM:613091 DYNC2H1 79659 HP:0004322 Short stature OMIM:613091 DYNC2H1 79659 HP:0009556 Absent tibia OMIM:613091 DYNC2H1 79659 HP:0002023 Anal atresia OMIM:613091 DYNC2H1 79659 HP:0003038 Fibular hypoplasia OMIM:613091 DYNC2H1 79659 HP:0000113 Polycystic kidney dysplasia OMIM:613091 DYNC2H1 79659 HP:0100258 Preaxial polydactyly OMIM:613091 DYNC2H1 79659 HP:0000895 Lateral clavicle hook OMIM:613091 DYNC2H1 79659 HP:0005257 Thoracic hypoplasia OMIM:613091 DYNC2H1 79659 HP:0002650 Scoliosis OMIM:613091 DYNC2H1 79659 HP:0003022 Hypoplasia of the ulna OMIM:613091 DYNC2H1 79659 HP:0002566 Intestinal malrotation OMIM:613091 DYNC2H1 79659 HP:0010454 Acetabular spurs OMIM:613091 DYNC2H1 79659 HP:0000175 Cleft palate OMIM:613091 DYNC2H1 79659 HP:0000105 Enlarged kidneys OMIM:613091 DYNC2H1 79659 HP:0000054 Micropenis OMIM:613811 SEPSECS 51091 HP:0002059 Cerebral atrophy OMIM:613811 SEPSECS 51091 HP:0012448 Delayed myelination OMIM:613811 SEPSECS 51091 HP:0000007 Autosomal recessive inheritance OMIM:613811 SEPSECS 51091 HP:0001272 Cerebellar atrophy OMIM:613811 SEPSECS 51091 HP:0001263 Global developmental delay OMIM:613811 SEPSECS 51091 HP:0002187 Intellectual disability, profound OMIM:613811 SEPSECS 51091 HP:0002510 Spastic tetraplegia OMIM:613811 SEPSECS 51091 HP:0003593 Infantile onset OMIM:613811 SEPSECS 51091 HP:0002079 Hypoplasia of the corpus callosum OMIM:613811 SEPSECS 51091 HP:0002518 Abnormality of the periventricular white matter OMIM:613811 SEPSECS 51091 HP:0000737 Irritability OMIM:613811 SEPSECS 51091 HP:0003121 Limb joint contracture OMIM:613811 SEPSECS 51091 HP:0001250 Seizures OMIM:613811 SEPSECS 51091 HP:0002169 Clonus OMIM:613811 SEPSECS 51091 HP:0002360 Sleep disturbance OMIM:613811 SEPSECS 51091 HP:0000253 Progressive microcephaly OMIM:609200 MYOT 9499 HP:0100303 Muscle fiber cytoplasmatic inclusion bodies OMIM:609200 MYOT 9499 HP:0003326 Myalgia OMIM:609200 MYOT 9499 HP:0003693 Distal amyotrophy OMIM:609200 MYOT 9499 HP:0003715 Myofibrillar myopathy OMIM:609200 MYOT 9499 HP:0003701 Proximal muscle weakness OMIM:609200 MYOT 9499 HP:0001271 Polyneuropathy OMIM:609200 MYOT 9499 HP:0001638 Cardiomyopathy OMIM:609200 MYOT 9499 HP:0000006 Autosomal dominant inheritance OMIM:609200 MYOT 9499 HP:0002600 Hyporeflexia of lower limbs OMIM:609200 MYOT 9499 HP:0001771 Achilles tendon contracture OMIM:609200 MYOT 9499 HP:0001284 Areflexia OMIM:609200 MYOT 9499 HP:0003552 Muscle stiffness OMIM:609200 MYOT 9499 HP:0003677 Slow progression OMIM:609200 MYOT 9499 HP:0009063 Progressive distal muscle weakness OMIM:609200 MYOT 9499 HP:0003236 Elevated serum creatine phosphokinase OMIM:609200 MYOT 9499 HP:0003581 Adult onset OMIM:615873 ADNP 23394 HP:0000540 Hypermetropia OMIM:615873 ADNP 23394 HP:0001250 Seizures OMIM:615873 ADNP 23394 HP:0000733 Stereotypic behavior OMIM:615873 ADNP 23394 HP:0003196 Short nose OMIM:615873 ADNP 23394 HP:0000431 Wide nasal bridge OMIM:615873 ADNP 23394 HP:0000729 Autistic behavior OMIM:615873 ADNP 23394 HP:0001388 Joint laxity OMIM:615873 ADNP 23394 HP:0004322 Short stature OMIM:615873 ADNP 23394 HP:0000722 Obsessive-compulsive behavior OMIM:615873 ADNP 23394 HP:0001252 Muscular hypotonia OMIM:615873 ADNP 23394 HP:0001249 Intellectual disability OMIM:615873 ADNP 23394 HP:0001513 Obesity OMIM:615873 ADNP 23394 HP:0000319 Smooth philtrum OMIM:615873 ADNP 23394 HP:0000219 Thin upper lip vermilion OMIM:615873 ADNP 23394 HP:0002564 Malformation of the heart and great vessels OMIM:615873 ADNP 23394 HP:0000752 Hyperactivity OMIM:615873 ADNP 23394 HP:0001263 Global developmental delay OMIM:615873 ADNP 23394 HP:0002719 Recurrent infections OMIM:615873 ADNP 23394 HP:0011220 Prominent forehead OMIM:615873 ADNP 23394 HP:0000505 Visual impairment OMIM:615873 ADNP 23394 HP:0000486 Strabismus OMIM:615873 ADNP 23394 HP:0000508 Ptosis OMIM:615873 ADNP 23394 HP:0000494 Downslanted palpebral fissures OMIM:615873 ADNP 23394 HP:0002463 Language impairment OMIM:615873 ADNP 23394 HP:0000625 Cleft eyelid OMIM:615873 ADNP 23394 HP:0011968 Feeding difficulties OMIM:615873 ADNP 23394 HP:0200055 Small hand OMIM:118800 PNKD 25953 HP:0000473 Torticollis OMIM:118800 PNKD 25953 HP:0007098 Paroxysmal choreoathetosis OMIM:118800 PNKD 25953 HP:0011463 Childhood onset OMIM:118800 PNKD 25953 HP:0003593 Infantile onset OMIM:118800 PNKD 25953 HP:0000273 Facial grimacing OMIM:118800 PNKD 25953 HP:0001260 Dysarthria OMIM:118800 PNKD 25953 HP:0002015 Dysphagia OMIM:118800 PNKD 25953 HP:0002268 Paroxysmal dystonia OMIM:118800 PNKD 25953 HP:0000006 Autosomal dominant inheritance OMIM:118800 PNKD 25953 HP:0002411 Myokymia OMIM:608328 FBN1 2200 HP:0000692 Misalignment of teeth OMIM:608328 FBN1 2200 HP:0000518 Cataract OMIM:608328 FBN1 2200 HP:0001783 Broad metatarsal OMIM:608328 FBN1 2200 HP:0002753 Thin bony cortex OMIM:608328 FBN1 2200 HP:0001642 Pulmonic stenosis OMIM:608328 FBN1 2200 HP:0002938 Lumbar hyperlordosis OMIM:608328 FBN1 2200 HP:0000586 Shallow orbits OMIM:608328 FBN1 2200 HP:0009768 Broad phalanges of the hand OMIM:608328 FBN1 2200 HP:0003416 Spinal canal stenosis OMIM:608328 FBN1 2200 HP:0000189 Narrow palate OMIM:608328 FBN1 2200 HP:0001169 Broad palm OMIM:608328 FBN1 2200 HP:0005280 Depressed nasal bridge OMIM:608328 FBN1 2200 HP:0002650 Scoliosis OMIM:608328 FBN1 2200 HP:0006482 Abnormality of dental morphology OMIM:608328 FBN1 2200 HP:0000327 Hypoplasia of the maxilla OMIM:608328 FBN1 2200 HP:0000501 Glaucoma OMIM:608328 FBN1 2200 HP:0000594 Shallow anterior chamber OMIM:608328 FBN1 2200 HP:0004322 Short stature OMIM:608328 FBN1 2200 HP:0001653 Mitral regurgitation OMIM:608328 FBN1 2200 HP:0000618 Blindness OMIM:608328 FBN1 2200 HP:0001387 Joint stiffness OMIM:608328 FBN1 2200 HP:0011003 Severe Myopia OMIM:608328 FBN1 2200 HP:0001230 Broad metacarpals OMIM:608328 FBN1 2200 HP:0001629 Ventricular septal defect OMIM:608328 FBN1 2200 HP:0001643 Patent ductus arteriosus OMIM:608328 FBN1 2200 HP:0003508 Proportionate short stature OMIM:608328 FBN1 2200 HP:0000885 Broad ribs OMIM:608328 FBN1 2200 HP:0001650 Aortic valve stenosis OMIM:608328 FBN1 2200 HP:0000248 Brachycephaly OMIM:608328 FBN1 2200 HP:0001156 Brachydactyly syndrome OMIM:608328 FBN1 2200 HP:0002682 Broad skull OMIM:608328 FBN1 2200 HP:0000006 Autosomal dominant inheritance OMIM:608328 FBN1 2200 HP:0001083 Ectopia lentis OMIM:608328 FBN1 2200 HP:0001256 Intellectual disability, mild OMIM:615830 PRKACA 5566 HP:0001030 Fragile skin OMIM:615830 PRKACA 5566 HP:0000712 Emotional lability OMIM:615830 PRKACA 5566 HP:0000938 Osteopenia OMIM:615830 PRKACA 5566 HP:0001596 Alopecia OMIM:615830 PRKACA 5566 HP:0001579 Primary hypercorticolism OMIM:615830 PRKACA 5566 HP:0008221 Adrenal hyperplasia OMIM:615830 PRKACA 5566 HP:0000819 Diabetes mellitus OMIM:615830 PRKACA 5566 HP:0000939 Osteoporosis OMIM:615830 PRKACA 5566 HP:0000978 Bruising susceptibility OMIM:615830 PRKACA 5566 HP:0001007 Hirsutism OMIM:615830 PRKACA 5566 HP:0003701 Proximal muscle weakness OMIM:615830 PRKACA 5566 HP:0001061 Acne OMIM:615830 PRKACA 5566 HP:0004324 Increased body weight OMIM:615830 PRKACA 5566 HP:0000822 Hypertension ORPHANET:97927 THRB 7068 HP:0000280 Coarse facial features ORPHANET:97927 THRB 7068 HP:0002360 Sleep disturbance ORPHANET:97927 THRB 7068 HP:0000821 Hypothyroidism ORPHANET:97927 THRB 7068 HP:0002019 Constipation ORPHANET:97927 THRB 7068 HP:0001392 Abnormality of the liver ORPHANET:97927 THRB 7068 HP:0001537 Umbilical hernia ORPHANET:97927 THRB 7068 HP:0000157 Abnormality of the tongue ORPHANET:97927 THRB 7068 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:97927 THRB 7068 HP:0001252 Muscular hypotonia ORPHANET:97927 THRB 7068 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:97927 THRA 7067 HP:0000280 Coarse facial features ORPHANET:97927 THRA 7067 HP:0002360 Sleep disturbance ORPHANET:97927 THRA 7067 HP:0000821 Hypothyroidism ORPHANET:97927 THRA 7067 HP:0002019 Constipation ORPHANET:97927 THRA 7067 HP:0001392 Abnormality of the liver ORPHANET:97927 THRA 7067 HP:0001537 Umbilical hernia ORPHANET:97927 THRA 7067 HP:0000157 Abnormality of the tongue ORPHANET:97927 THRA 7067 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:97927 THRA 7067 HP:0001252 Muscular hypotonia ORPHANET:97927 THRA 7067 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:612775 ADAM9 8754 HP:0000548 Cone-rod dystrophy OMIM:612775 ADAM9 8754 HP:0000505 Visual impairment OMIM:612775 ADAM9 8754 HP:0000007 Autosomal recessive inheritance OMIM:193400 VWF 7450 HP:0000006 Autosomal dominant inheritance OMIM:193400 VWF 7450 HP:0001634 Mitral valve prolapse OMIM:193400 VWF 7450 HP:0000421 Epistaxis OMIM:193400 VWF 7450 HP:0005261 Joint hemorrhage OMIM:193400 VWF 7450 HP:0000978 Bruising susceptibility OMIM:193400 VWF 7450 HP:0003010 Prolonged bleeding time OMIM:193400 VWF 7450 HP:0001650 Aortic valve stenosis OMIM:193400 VWF 7450 HP:0000471 Gastrointestinal angiodysplasia OMIM:193400 VWF 7450 HP:0003125 Reduced factor VIII activity OMIM:193400 VWF 7450 HP:0003829 Incomplete penetrance OMIM:193400 VWF 7450 HP:0000132 Menorrhagia OMIM:193400 VWF 7450 HP:0002239 Gastrointestinal hemorrhage OMIM:193400 VWF 7450 HP:0003540 Impaired platelet aggregation OMIM:193400 VWF 7450 HP:0005542 Prolonged whole-blood clotting time OMIM:260400 SBDS 51119 HP:0002750 Delayed skeletal maturation OMIM:260400 SBDS 51119 HP:0001972 Macrocytic anemia OMIM:260400 SBDS 51119 HP:0000691 Microdontia OMIM:260400 SBDS 51119 HP:0001700 Myocardial necrosis OMIM:260400 SBDS 51119 HP:0001263 Global developmental delay OMIM:260400 SBDS 51119 HP:0001288 Gait disturbance OMIM:260400 SBDS 51119 HP:0002863 Myelodysplasia OMIM:260400 SBDS 51119 HP:0002650 Scoliosis OMIM:260400 SBDS 51119 HP:0001873 Thrombocytopenia OMIM:260400 SBDS 51119 HP:0000768 Pectus carinatum OMIM:260400 SBDS 51119 HP:0008064 Ichthyosis OMIM:260400 SBDS 51119 HP:0006598 Irregular ossification at anterior rib ends OMIM:260400 SBDS 51119 HP:0001738 Exocrine pancreatic insufficiency OMIM:260400 SBDS 51119 HP:0001508 Failure to thrive OMIM:260400 SBDS 51119 HP:0011904 Persistence of hemoglobin F OMIM:260400 SBDS 51119 HP:0100543 Cognitive impairment OMIM:260400 SBDS 51119 HP:0001876 Pancytopenia OMIM:260400 SBDS 51119 HP:0008803 Narrow sacroiliac notch OMIM:260400 SBDS 51119 HP:0003411 Proximal femoral metaphyseal irregularity OMIM:260400 SBDS 51119 HP:0003300 Ovoid vertebral bodies OMIM:260400 SBDS 51119 HP:0004322 Short stature OMIM:260400 SBDS 51119 HP:0000774 Narrow chest OMIM:260400 SBDS 51119 HP:0001328 Specific learning disability OMIM:260400 SBDS 51119 HP:0001875 Neutropenia OMIM:260400 SBDS 51119 HP:0005528 Bone marrow hypocellularity OMIM:260400 SBDS 51119 HP:0002240 Hepatomegaly OMIM:260400 SBDS 51119 HP:0004808 Acute myeloid leukemia OMIM:260400 SBDS 51119 HP:0000007 Autosomal recessive inheritance OMIM:260400 SBDS 51119 HP:0001256 Intellectual disability, mild OMIM:260400 SBDS 51119 HP:0005871 Metaphyseal chondrodysplasia OMIM:260400 SBDS 51119 HP:0002719 Recurrent infections OMIM:260400 SBDS 51119 HP:0002812 Coxa vara OMIM:260400 SBDS 51119 HP:0010306 Short thorax OMIM:260400 SBDS 51119 HP:0006461 Proximal femoral epiphysiolysis OMIM:260400 SBDS 51119 HP:0000920 Enlargement of the costochondral junction OMIM:260400 SBDS 51119 HP:0003016 Metaphyseal widening OMIM:260400 SBDS 51119 HP:0001518 Small for gestational age OMIM:260400 SBDS 51119 HP:0004979 Metaphyseal sclerosis OMIM:260400 SBDS 51119 HP:0002643 Neonatal respiratory distress OMIM:260400 SBDS 51119 HP:0000121 Nephrocalcinosis OMIM:260400 SBDS 51119 HP:0000964 Eczema OMIM:260400 SBDS 51119 HP:0000907 Anterior rib cupping OMIM:260400 SBDS 51119 HP:0002570 Steatorrhea OMIM:260400 SBDS 51119 HP:0100651 Type I diabetes mellitus OMIM:260400 SBDS 51119 HP:0000670 Carious teeth OMIM:260400 SBDS 51119 HP:0002910 Elevated hepatic transaminases OMIM:260400 SBDS 51119 HP:0004349 Reduced bone mineral density OMIM:600316 MYO15A 51168 HP:0011476 Profound sensorineural hearing impairment OMIM:600316 MYO15A 51168 HP:0000007 Autosomal recessive inheritance OMIM:613881 BAG3 9531 HP:0001644 Dilated cardiomyopathy OMIM:613881 BAG3 9531 HP:0001635 Congestive heart failure OMIM:613881 BAG3 9531 HP:0000006 Autosomal dominant inheritance ORPHANET:772 PEX19 5824 HP:0008064 Ichthyosis ORPHANET:772 PEX19 5824 HP:0000662 Night blindness ORPHANET:772 PEX19 5824 HP:0002240 Hepatomegaly ORPHANET:772 PEX19 5824 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:772 PEX19 5824 HP:0000505 Visual impairment ORPHANET:772 PEX19 5824 HP:0001250 Seizures ORPHANET:772 PEX19 5824 HP:0000639 Nystagmus ORPHANET:772 PEX19 5824 HP:0000648 Optic atrophy ORPHANET:772 PEX19 5824 HP:0001276 Hypertonia ORPHANET:772 PEX19 5824 HP:0011675 Arrhythmia ORPHANET:772 PEX19 5824 HP:0002311 Incoordination ORPHANET:772 PEX19 5824 HP:0000518 Cataract ORPHANET:772 PEX19 5824 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:772 PEX19 5824 HP:0004322 Short stature ORPHANET:772 PEX19 5824 HP:0003202 Skeletal muscle atrophy ORPHANET:772 PEX19 5824 HP:0000407 Sensorineural hearing impairment ORPHANET:772 PEX19 5824 HP:0010628 Facial palsy ORPHANET:772 PEX19 5824 HP:0000708 Behavioral abnormality ORPHANET:772 PEX19 5824 HP:0001252 Muscular hypotonia ORPHANET:772 PEX19 5824 HP:0007703 Abnormal retinal pigmentation ORPHANET:772 PEX19 5824 HP:0005930 Abnormality of epiphysis morphology ORPHANET:772 PEX19 5824 HP:0100543 Cognitive impairment ORPHANET:772 PEX12 5193 HP:0008064 Ichthyosis ORPHANET:772 PEX12 5193 HP:0000662 Night blindness ORPHANET:772 PEX12 5193 HP:0002240 Hepatomegaly ORPHANET:772 PEX12 5193 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:772 PEX12 5193 HP:0000505 Visual impairment ORPHANET:772 PEX12 5193 HP:0001250 Seizures ORPHANET:772 PEX12 5193 HP:0000639 Nystagmus ORPHANET:772 PEX12 5193 HP:0000648 Optic atrophy ORPHANET:772 PEX12 5193 HP:0001276 Hypertonia ORPHANET:772 PEX12 5193 HP:0011675 Arrhythmia ORPHANET:772 PEX12 5193 HP:0002311 Incoordination ORPHANET:772 PEX12 5193 HP:0000518 Cataract ORPHANET:772 PEX12 5193 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:772 PEX12 5193 HP:0004322 Short stature ORPHANET:772 PEX12 5193 HP:0003202 Skeletal muscle atrophy ORPHANET:772 PEX12 5193 HP:0000407 Sensorineural hearing impairment ORPHANET:772 PEX12 5193 HP:0010628 Facial palsy ORPHANET:772 PEX12 5193 HP:0000708 Behavioral abnormality ORPHANET:772 PEX12 5193 HP:0001252 Muscular hypotonia ORPHANET:772 PEX12 5193 HP:0007703 Abnormal retinal pigmentation ORPHANET:772 PEX12 5193 HP:0005930 Abnormality of epiphysis morphology ORPHANET:772 PEX12 5193 HP:0100543 Cognitive impairment ORPHANET:772 PEX2 5828 HP:0008064 Ichthyosis ORPHANET:772 PEX2 5828 HP:0000662 Night blindness ORPHANET:772 PEX2 5828 HP:0002240 Hepatomegaly ORPHANET:772 PEX2 5828 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:772 PEX2 5828 HP:0000505 Visual impairment ORPHANET:772 PEX2 5828 HP:0001250 Seizures ORPHANET:772 PEX2 5828 HP:0000639 Nystagmus ORPHANET:772 PEX2 5828 HP:0000648 Optic atrophy ORPHANET:772 PEX2 5828 HP:0001276 Hypertonia ORPHANET:772 PEX2 5828 HP:0011675 Arrhythmia ORPHANET:772 PEX2 5828 HP:0002311 Incoordination ORPHANET:772 PEX2 5828 HP:0000518 Cataract ORPHANET:772 PEX2 5828 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:772 PEX2 5828 HP:0004322 Short stature ORPHANET:772 PEX2 5828 HP:0003202 Skeletal muscle atrophy ORPHANET:772 PEX2 5828 HP:0000407 Sensorineural hearing impairment ORPHANET:772 PEX2 5828 HP:0010628 Facial palsy ORPHANET:772 PEX2 5828 HP:0000708 Behavioral abnormality ORPHANET:772 PEX2 5828 HP:0001252 Muscular hypotonia ORPHANET:772 PEX2 5828 HP:0007703 Abnormal retinal pigmentation ORPHANET:772 PEX2 5828 HP:0005930 Abnormality of epiphysis morphology ORPHANET:772 PEX2 5828 HP:0100543 Cognitive impairment ORPHANET:772 PEX10 5192 HP:0008064 Ichthyosis ORPHANET:772 PEX10 5192 HP:0000662 Night blindness ORPHANET:772 PEX10 5192 HP:0002240 Hepatomegaly ORPHANET:772 PEX10 5192 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:772 PEX10 5192 HP:0000505 Visual impairment ORPHANET:772 PEX10 5192 HP:0001250 Seizures ORPHANET:772 PEX10 5192 HP:0000639 Nystagmus ORPHANET:772 PEX10 5192 HP:0000648 Optic atrophy ORPHANET:772 PEX10 5192 HP:0001276 Hypertonia ORPHANET:772 PEX10 5192 HP:0011675 Arrhythmia ORPHANET:772 PEX10 5192 HP:0002311 Incoordination ORPHANET:772 PEX10 5192 HP:0000518 Cataract ORPHANET:772 PEX10 5192 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:772 PEX10 5192 HP:0004322 Short stature ORPHANET:772 PEX10 5192 HP:0003202 Skeletal muscle atrophy ORPHANET:772 PEX10 5192 HP:0000407 Sensorineural hearing impairment ORPHANET:772 PEX10 5192 HP:0010628 Facial palsy ORPHANET:772 PEX10 5192 HP:0000708 Behavioral abnormality ORPHANET:772 PEX10 5192 HP:0001252 Muscular hypotonia ORPHANET:772 PEX10 5192 HP:0007703 Abnormal retinal pigmentation ORPHANET:772 PEX10 5192 HP:0005930 Abnormality of epiphysis morphology ORPHANET:772 PEX10 5192 HP:0100543 Cognitive impairment ORPHANET:772 PEX5 5830 HP:0008064 Ichthyosis ORPHANET:772 PEX5 5830 HP:0000662 Night blindness ORPHANET:772 PEX5 5830 HP:0002240 Hepatomegaly ORPHANET:772 PEX5 5830 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:772 PEX5 5830 HP:0000505 Visual impairment ORPHANET:772 PEX5 5830 HP:0001250 Seizures ORPHANET:772 PEX5 5830 HP:0000639 Nystagmus ORPHANET:772 PEX5 5830 HP:0000648 Optic atrophy ORPHANET:772 PEX5 5830 HP:0001276 Hypertonia ORPHANET:772 PEX5 5830 HP:0011675 Arrhythmia ORPHANET:772 PEX5 5830 HP:0002311 Incoordination ORPHANET:772 PEX5 5830 HP:0000518 Cataract ORPHANET:772 PEX5 5830 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:772 PEX5 5830 HP:0004322 Short stature ORPHANET:772 PEX5 5830 HP:0003202 Skeletal muscle atrophy ORPHANET:772 PEX5 5830 HP:0000407 Sensorineural hearing impairment ORPHANET:772 PEX5 5830 HP:0010628 Facial palsy ORPHANET:772 PEX5 5830 HP:0000708 Behavioral abnormality ORPHANET:772 PEX5 5830 HP:0001252 Muscular hypotonia ORPHANET:772 PEX5 5830 HP:0007703 Abnormal retinal pigmentation ORPHANET:772 PEX5 5830 HP:0005930 Abnormality of epiphysis morphology ORPHANET:772 PEX5 5830 HP:0100543 Cognitive impairment ORPHANET:772 PEX16 9409 HP:0008064 Ichthyosis ORPHANET:772 PEX16 9409 HP:0000662 Night blindness ORPHANET:772 PEX16 9409 HP:0002240 Hepatomegaly ORPHANET:772 PEX16 9409 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:772 PEX16 9409 HP:0000505 Visual impairment ORPHANET:772 PEX16 9409 HP:0001250 Seizures ORPHANET:772 PEX16 9409 HP:0000639 Nystagmus ORPHANET:772 PEX16 9409 HP:0000648 Optic atrophy ORPHANET:772 PEX16 9409 HP:0001276 Hypertonia ORPHANET:772 PEX16 9409 HP:0011675 Arrhythmia ORPHANET:772 PEX16 9409 HP:0002311 Incoordination ORPHANET:772 PEX16 9409 HP:0000518 Cataract ORPHANET:772 PEX16 9409 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:772 PEX16 9409 HP:0004322 Short stature ORPHANET:772 PEX16 9409 HP:0003202 Skeletal muscle atrophy ORPHANET:772 PEX16 9409 HP:0000407 Sensorineural hearing impairment ORPHANET:772 PEX16 9409 HP:0010628 Facial palsy ORPHANET:772 PEX16 9409 HP:0000708 Behavioral abnormality ORPHANET:772 PEX16 9409 HP:0001252 Muscular hypotonia ORPHANET:772 PEX16 9409 HP:0007703 Abnormal retinal pigmentation ORPHANET:772 PEX16 9409 HP:0005930 Abnormality of epiphysis morphology ORPHANET:772 PEX16 9409 HP:0100543 Cognitive impairment ORPHANET:772 PEX14 5195 HP:0008064 Ichthyosis ORPHANET:772 PEX14 5195 HP:0000662 Night blindness ORPHANET:772 PEX14 5195 HP:0002240 Hepatomegaly ORPHANET:772 PEX14 5195 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:772 PEX14 5195 HP:0000505 Visual impairment ORPHANET:772 PEX14 5195 HP:0001250 Seizures ORPHANET:772 PEX14 5195 HP:0000639 Nystagmus ORPHANET:772 PEX14 5195 HP:0000648 Optic atrophy ORPHANET:772 PEX14 5195 HP:0001276 Hypertonia ORPHANET:772 PEX14 5195 HP:0011675 Arrhythmia ORPHANET:772 PEX14 5195 HP:0002311 Incoordination ORPHANET:772 PEX14 5195 HP:0000518 Cataract ORPHANET:772 PEX14 5195 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:772 PEX14 5195 HP:0004322 Short stature ORPHANET:772 PEX14 5195 HP:0003202 Skeletal muscle atrophy ORPHANET:772 PEX14 5195 HP:0000407 Sensorineural hearing impairment ORPHANET:772 PEX14 5195 HP:0010628 Facial palsy ORPHANET:772 PEX14 5195 HP:0000708 Behavioral abnormality ORPHANET:772 PEX14 5195 HP:0001252 Muscular hypotonia ORPHANET:772 PEX14 5195 HP:0007703 Abnormal retinal pigmentation ORPHANET:772 PEX14 5195 HP:0005930 Abnormality of epiphysis morphology ORPHANET:772 PEX14 5195 HP:0100543 Cognitive impairment ORPHANET:772 PEX13 5194 HP:0008064 Ichthyosis ORPHANET:772 PEX13 5194 HP:0000662 Night blindness ORPHANET:772 PEX13 5194 HP:0002240 Hepatomegaly ORPHANET:772 PEX13 5194 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:772 PEX13 5194 HP:0000505 Visual impairment ORPHANET:772 PEX13 5194 HP:0001250 Seizures ORPHANET:772 PEX13 5194 HP:0000639 Nystagmus ORPHANET:772 PEX13 5194 HP:0000648 Optic atrophy ORPHANET:772 PEX13 5194 HP:0001276 Hypertonia ORPHANET:772 PEX13 5194 HP:0011675 Arrhythmia ORPHANET:772 PEX13 5194 HP:0002311 Incoordination ORPHANET:772 PEX13 5194 HP:0000518 Cataract ORPHANET:772 PEX13 5194 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:772 PEX13 5194 HP:0004322 Short stature ORPHANET:772 PEX13 5194 HP:0003202 Skeletal muscle atrophy ORPHANET:772 PEX13 5194 HP:0000407 Sensorineural hearing impairment ORPHANET:772 PEX13 5194 HP:0010628 Facial palsy ORPHANET:772 PEX13 5194 HP:0000708 Behavioral abnormality ORPHANET:772 PEX13 5194 HP:0001252 Muscular hypotonia ORPHANET:772 PEX13 5194 HP:0007703 Abnormal retinal pigmentation ORPHANET:772 PEX13 5194 HP:0005930 Abnormality of epiphysis morphology ORPHANET:772 PEX13 5194 HP:0100543 Cognitive impairment ORPHANET:772 PEX1 5189 HP:0008064 Ichthyosis ORPHANET:772 PEX1 5189 HP:0000662 Night blindness ORPHANET:772 PEX1 5189 HP:0002240 Hepatomegaly ORPHANET:772 PEX1 5189 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:772 PEX1 5189 HP:0000505 Visual impairment ORPHANET:772 PEX1 5189 HP:0001250 Seizures ORPHANET:772 PEX1 5189 HP:0000639 Nystagmus ORPHANET:772 PEX1 5189 HP:0000648 Optic atrophy ORPHANET:772 PEX1 5189 HP:0001276 Hypertonia ORPHANET:772 PEX1 5189 HP:0011675 Arrhythmia ORPHANET:772 PEX1 5189 HP:0002311 Incoordination ORPHANET:772 PEX1 5189 HP:0000518 Cataract ORPHANET:772 PEX1 5189 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:772 PEX1 5189 HP:0004322 Short stature ORPHANET:772 PEX1 5189 HP:0003202 Skeletal muscle atrophy ORPHANET:772 PEX1 5189 HP:0000407 Sensorineural hearing impairment ORPHANET:772 PEX1 5189 HP:0010628 Facial palsy ORPHANET:772 PEX1 5189 HP:0000708 Behavioral abnormality ORPHANET:772 PEX1 5189 HP:0001252 Muscular hypotonia ORPHANET:772 PEX1 5189 HP:0007703 Abnormal retinal pigmentation ORPHANET:772 PEX1 5189 HP:0005930 Abnormality of epiphysis morphology ORPHANET:772 PEX1 5189 HP:0100543 Cognitive impairment ORPHANET:772 PEX6 5190 HP:0008064 Ichthyosis ORPHANET:772 PEX6 5190 HP:0000662 Night blindness ORPHANET:772 PEX6 5190 HP:0002240 Hepatomegaly ORPHANET:772 PEX6 5190 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:772 PEX6 5190 HP:0000505 Visual impairment ORPHANET:772 PEX6 5190 HP:0001250 Seizures ORPHANET:772 PEX6 5190 HP:0000639 Nystagmus ORPHANET:772 PEX6 5190 HP:0000648 Optic atrophy ORPHANET:772 PEX6 5190 HP:0001276 Hypertonia ORPHANET:772 PEX6 5190 HP:0011675 Arrhythmia ORPHANET:772 PEX6 5190 HP:0002311 Incoordination ORPHANET:772 PEX6 5190 HP:0000518 Cataract ORPHANET:772 PEX6 5190 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:772 PEX6 5190 HP:0004322 Short stature ORPHANET:772 PEX6 5190 HP:0003202 Skeletal muscle atrophy ORPHANET:772 PEX6 5190 HP:0000407 Sensorineural hearing impairment ORPHANET:772 PEX6 5190 HP:0010628 Facial palsy ORPHANET:772 PEX6 5190 HP:0000708 Behavioral abnormality ORPHANET:772 PEX6 5190 HP:0001252 Muscular hypotonia ORPHANET:772 PEX6 5190 HP:0007703 Abnormal retinal pigmentation ORPHANET:772 PEX6 5190 HP:0005930 Abnormality of epiphysis morphology ORPHANET:772 PEX6 5190 HP:0100543 Cognitive impairment ORPHANET:772 PEX3 8504 HP:0008064 Ichthyosis ORPHANET:772 PEX3 8504 HP:0000662 Night blindness ORPHANET:772 PEX3 8504 HP:0002240 Hepatomegaly ORPHANET:772 PEX3 8504 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:772 PEX3 8504 HP:0000505 Visual impairment ORPHANET:772 PEX3 8504 HP:0001250 Seizures ORPHANET:772 PEX3 8504 HP:0000639 Nystagmus ORPHANET:772 PEX3 8504 HP:0000648 Optic atrophy ORPHANET:772 PEX3 8504 HP:0001276 Hypertonia ORPHANET:772 PEX3 8504 HP:0011675 Arrhythmia ORPHANET:772 PEX3 8504 HP:0002311 Incoordination ORPHANET:772 PEX3 8504 HP:0000518 Cataract ORPHANET:772 PEX3 8504 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:772 PEX3 8504 HP:0004322 Short stature ORPHANET:772 PEX3 8504 HP:0003202 Skeletal muscle atrophy ORPHANET:772 PEX3 8504 HP:0000407 Sensorineural hearing impairment ORPHANET:772 PEX3 8504 HP:0010628 Facial palsy ORPHANET:772 PEX3 8504 HP:0000708 Behavioral abnormality ORPHANET:772 PEX3 8504 HP:0001252 Muscular hypotonia ORPHANET:772 PEX3 8504 HP:0007703 Abnormal retinal pigmentation ORPHANET:772 PEX3 8504 HP:0005930 Abnormality of epiphysis morphology ORPHANET:772 PEX3 8504 HP:0100543 Cognitive impairment ORPHANET:772 PEX11B 8799 HP:0008064 Ichthyosis ORPHANET:772 PEX11B 8799 HP:0000662 Night blindness ORPHANET:772 PEX11B 8799 HP:0002240 Hepatomegaly ORPHANET:772 PEX11B 8799 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:772 PEX11B 8799 HP:0000505 Visual impairment ORPHANET:772 PEX11B 8799 HP:0001250 Seizures ORPHANET:772 PEX11B 8799 HP:0000639 Nystagmus ORPHANET:772 PEX11B 8799 HP:0000648 Optic atrophy ORPHANET:772 PEX11B 8799 HP:0001276 Hypertonia ORPHANET:772 PEX11B 8799 HP:0011675 Arrhythmia ORPHANET:772 PEX11B 8799 HP:0002311 Incoordination ORPHANET:772 PEX11B 8799 HP:0000518 Cataract ORPHANET:772 PEX11B 8799 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:772 PEX11B 8799 HP:0004322 Short stature ORPHANET:772 PEX11B 8799 HP:0003202 Skeletal muscle atrophy ORPHANET:772 PEX11B 8799 HP:0000407 Sensorineural hearing impairment ORPHANET:772 PEX11B 8799 HP:0010628 Facial palsy ORPHANET:772 PEX11B 8799 HP:0000708 Behavioral abnormality ORPHANET:772 PEX11B 8799 HP:0001252 Muscular hypotonia ORPHANET:772 PEX11B 8799 HP:0007703 Abnormal retinal pigmentation ORPHANET:772 PEX11B 8799 HP:0005930 Abnormality of epiphysis morphology ORPHANET:772 PEX11B 8799 HP:0100543 Cognitive impairment ORPHANET:772 PEX26 55670 HP:0008064 Ichthyosis ORPHANET:772 PEX26 55670 HP:0000662 Night blindness ORPHANET:772 PEX26 55670 HP:0002240 Hepatomegaly ORPHANET:772 PEX26 55670 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:772 PEX26 55670 HP:0000505 Visual impairment ORPHANET:772 PEX26 55670 HP:0001250 Seizures ORPHANET:772 PEX26 55670 HP:0000639 Nystagmus ORPHANET:772 PEX26 55670 HP:0000648 Optic atrophy ORPHANET:772 PEX26 55670 HP:0001276 Hypertonia ORPHANET:772 PEX26 55670 HP:0011675 Arrhythmia ORPHANET:772 PEX26 55670 HP:0002311 Incoordination ORPHANET:772 PEX26 55670 HP:0000518 Cataract ORPHANET:772 PEX26 55670 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:772 PEX26 55670 HP:0004322 Short stature ORPHANET:772 PEX26 55670 HP:0003202 Skeletal muscle atrophy ORPHANET:772 PEX26 55670 HP:0000407 Sensorineural hearing impairment ORPHANET:772 PEX26 55670 HP:0010628 Facial palsy ORPHANET:772 PEX26 55670 HP:0000708 Behavioral abnormality ORPHANET:772 PEX26 55670 HP:0001252 Muscular hypotonia ORPHANET:772 PEX26 55670 HP:0007703 Abnormal retinal pigmentation ORPHANET:772 PEX26 55670 HP:0005930 Abnormality of epiphysis morphology ORPHANET:772 PEX26 55670 HP:0100543 Cognitive impairment OMIM:251290 OCLN 100506658 HP:0000463 Anteverted nares OMIM:251290 OCLN 100506658 HP:0000308 Microretrognathia OMIM:251290 OCLN 100506658 HP:0003812 Phenotypic variability OMIM:251290 OCLN 100506658 HP:0001250 Seizures OMIM:251290 OCLN 100506658 HP:0002187 Intellectual disability, profound OMIM:251290 OCLN 100506658 HP:0001873 Thrombocytopenia OMIM:251290 OCLN 100506658 HP:0002240 Hepatomegaly OMIM:251290 OCLN 100506658 HP:0000518 Cataract OMIM:251290 OCLN 100506658 HP:0001321 Cerebellar hypoplasia OMIM:251290 OCLN 100506658 HP:0002126 Polymicrogyria OMIM:251290 OCLN 100506658 HP:0000369 Low-set ears OMIM:251290 OCLN 100506658 HP:0002514 Cerebral calcification OMIM:251290 OCLN 100506658 HP:0008936 Muscular hypotonia of the trunk OMIM:251290 OCLN 100506658 HP:0100022 Abnormality of movement OMIM:251290 OCLN 100506658 HP:0007759 Opacification of the corneal stroma OMIM:251290 OCLN 100506658 HP:0001744 Splenomegaly OMIM:251290 OCLN 100506658 HP:0000007 Autosomal recessive inheritance OMIM:251290 OCLN 100506658 HP:0000252 Microcephaly OMIM:251290 OCLN 100506658 HP:0001339 Lissencephaly OMIM:251290 OCLN 100506658 HP:0002119 Ventriculomegaly OMIM:251290 OCLN 100506658 HP:0001508 Failure to thrive OMIM:251290 OCLN 100506658 HP:0000218 High palate OMIM:251290 OCLN 100506658 HP:0002120 Cerebral cortical atrophy OMIM:251290 OCLN 100506658 HP:0001347 Hyperreflexia OMIM:251290 OCLN 100506658 HP:0002910 Elevated hepatic transaminases OMIM:251290 OCLN 100506658 HP:0002922 Increased CSF protein OMIM:251290 OCLN 100506658 HP:0000343 Long philtrum OMIM:251290 OCLN 100506658 HP:0001276 Hypertonia OMIM:251290 OCLN 100506658 HP:0000639 Nystagmus OMIM:251290 OCLN 100506658 HP:0001410 Decreased liver function OMIM:251290 OCLN 100506658 HP:0001263 Global developmental delay OMIM:251290 OCLN 100506658 HP:0000083 Renal insufficiency OMIM:251290 OCLN 100506658 HP:0000340 Sloping forehead OMIM:251290 OCLN 100506658 HP:0001302 Pachygyria OMIM:251290 OCLN 100506658 HP:0000952 Jaundice OMIM:251290 OCLN 100506658 HP:0000967 Petechiae OMIM:251290 OCLN 100506658 HP:0001257 Spasticity OMIM:614665 GUCY2C 2984 HP:0004401 Meconium ileus OMIM:614665 GUCY2C 2984 HP:0000007 Autosomal recessive inheritance OMIM:614665 GUCY2C 2984 HP:0004388 Microcolon OMIM:300215 ARX 170302 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:300215 ARX 170302 HP:0000431 Wide nasal bridge OMIM:300215 ARX 170302 HP:0008736 Hypoplasia of penis OMIM:300215 ARX 170302 HP:0001328 Specific learning disability OMIM:300215 ARX 170302 HP:0001252 Muscular hypotonia OMIM:300215 ARX 170302 HP:0002171 Gliosis OMIM:300215 ARX 170302 HP:0011344 Severe global developmental delay OMIM:300215 ARX 170302 HP:0000252 Microcephaly OMIM:300215 ARX 170302 HP:0001738 Exocrine pancreatic insufficiency OMIM:300215 ARX 170302 HP:0000218 High palate OMIM:300215 ARX 170302 HP:0001643 Patent ductus arteriosus OMIM:300215 ARX 170302 HP:0000348 High forehead OMIM:300215 ARX 170302 HP:0001339 Lissencephaly OMIM:300215 ARX 170302 HP:0001250 Seizures OMIM:300215 ARX 170302 HP:0008734 Decreased testicular size OMIM:300215 ARX 170302 HP:0000219 Thin upper lip vermilion OMIM:300215 ARX 170302 HP:0002119 Ventriculomegaly OMIM:300215 ARX 170302 HP:0001257 Spasticity OMIM:300215 ARX 170302 HP:0002269 Abnormality of neuronal migration OMIM:300215 ARX 170302 HP:0008872 Feeding difficulties in infancy OMIM:300215 ARX 170302 HP:0000028 Cryptorchidism OMIM:300215 ARX 170302 HP:0001417 X-linked inheritance OMIM:300215 ARX 170302 HP:0001302 Pachygyria OMIM:300215 ARX 170302 HP:0100543 Cognitive impairment OMIM:300215 ARX 170302 HP:0002007 Frontal bossing OMIM:300215 ARX 170302 HP:0000054 Micropenis OMIM:300215 ARX 170302 HP:0002024 Malabsorption OMIM:300215 ARX 170302 HP:0002251 Aganglionic megacolon OMIM:300215 ARX 170302 HP:0000343 Long philtrum OMIM:300215 ARX 170302 HP:0002014 Diarrhea OMIM:300215 ARX 170302 HP:0000347 Micrognathia OMIM:300215 ARX 170302 HP:0000062 Ambiguous genitalia OMIM:300215 ARX 170302 HP:0000369 Low-set ears OMIM:300215 ARX 170302 HP:0001276 Hypertonia OMIM:300215 ARX 170302 HP:0001274 Agenesis of corpus callosum OMIM:300215 ARX 170302 HP:0011341 Long upper lip OMIM:300215 ARX 170302 HP:0009921 Duane anomaly OMIM:300215 ARX 170302 HP:0000260 Wide anterior fontanel OMIM:300215 ARX 170302 HP:0000966 Hypohidrosis OMIM:300215 ARX 170302 HP:0001347 Hyperreflexia OMIM:300215 ARX 170302 HP:0000426 Prominent nasal bridge OMIM:300215 ARX 170302 HP:0001629 Ventricular septal defect OMIM:601098 LITAF 9516 HP:0001265 Hyporeflexia OMIM:601098 LITAF 9516 HP:0003431 Decreased motor nerve conduction velocity OMIM:601098 LITAF 9516 HP:0003382 Hypertrophic nerve changes OMIM:601098 LITAF 9516 HP:0000006 Autosomal dominant inheritance OMIM:601098 LITAF 9516 HP:0002936 Distal sensory impairment OMIM:601098 LITAF 9516 HP:0001761 Pes cavus OMIM:601098 LITAF 9516 HP:0003481 Segmental peripheral demyelination/remyelination OMIM:601098 LITAF 9516 HP:0003621 Juvenile onset OMIM:601098 LITAF 9516 HP:0003383 Onion bulb formation OMIM:601098 LITAF 9516 HP:0002460 Distal muscle weakness OMIM:601098 LITAF 9516 HP:0003693 Distal amyotrophy OMIM:312600 RP2 6102 HP:0001417 X-linked inheritance OMIM:312600 RP2 6102 HP:0000545 Myopia OMIM:312600 RP2 6102 HP:0200065 Choroidoretinal degeneration OMIM:312600 RP2 6102 HP:0001133 Constricted visual fields OMIM:312600 RP2 6102 HP:0007945 Choroidal degeneration OMIM:312600 RP2 6102 HP:0000662 Night blindness OMIM:312600 RP2 6102 HP:0000580 Pigmentary retinopathy OMIM:312600 RP2 6102 HP:0000518 Cataract OMIM:312600 RP2 6102 HP:0000510 Retinitis pigmentosa OMIM:215140 LBR 3930 HP:0005855 Multiple prenatal fractures OMIM:215140 LBR 3930 HP:0005019 Diaphyseal thickening OMIM:215140 LBR 3930 HP:0003811 Neonatal death OMIM:215140 LBR 3930 HP:0003440 Horizontal sacrum OMIM:215140 LBR 3930 HP:0006619 Anterior rib punctate calcifications OMIM:215140 LBR 3930 HP:0004348 Abnormality of bone mineral density OMIM:215140 LBR 3930 HP:0003826 Stillbirth OMIM:215140 LBR 3930 HP:0008905 Rhizomelia OMIM:215140 LBR 3930 HP:0000774 Narrow chest OMIM:215140 LBR 3930 HP:0000327 Hypoplasia of the maxilla OMIM:215140 LBR 3930 HP:0001162 Postaxial hand polydactyly OMIM:215140 LBR 3930 HP:0001790 Nonimmune hydrops fetalis OMIM:215140 LBR 3930 HP:0004598 Supernumerary vertebral ossification centers OMIM:215140 LBR 3930 HP:0000890 Long clavicles OMIM:215140 LBR 3930 HP:0008479 Hypoplastic vertebral bodies OMIM:215140 LBR 3930 HP:0000007 Autosomal recessive inheritance OMIM:215140 LBR 3930 HP:0002089 Pulmonary hypoplasia OMIM:215140 LBR 3930 HP:0008420 Punctate vertebral calcifications OMIM:215140 LBR 3930 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:215140 LBR 3930 HP:0001004 Lymphedema OMIM:215140 LBR 3930 HP:0004599 Absent or minimally ossified vertebral bodies OMIM:215140 LBR 3930 HP:0000348 High forehead OMIM:215140 LBR 3930 HP:0001367 Abnormal joint morphology OMIM:215140 LBR 3930 HP:0000316 Hypertelorism OMIM:215140 LBR 3930 HP:0000272 Malar flattening OMIM:215140 LBR 3930 HP:0002787 Tracheal calcification OMIM:215140 LBR 3930 HP:0009803 Short phalanx of finger OMIM:215140 LBR 3930 HP:0008754 Laryngeal calcification OMIM:215140 LBR 3930 HP:0000256 Macrocephaly OMIM:215140 LBR 3930 HP:0001852 Sandal gap OMIM:215140 LBR 3930 HP:0002983 Micromelia OMIM:215140 LBR 3930 HP:0001804 Hypoplastic fingernail OMIM:215140 LBR 3930 HP:0000476 Cystic hygroma OMIM:215140 LBR 3930 HP:0002101 Abnormal lung lobation OMIM:215140 LBR 3930 HP:0000347 Micrognathia OMIM:215140 LBR 3930 HP:0000941 Short diaphyses OMIM:215140 LBR 3930 HP:0009107 Abnormal ossification involving the femoral head and neck OMIM:215140 LBR 3930 HP:0008364 Abnormality of the calcaneus OMIM:215140 LBR 3930 HP:0005716 Lethal skeletal dysplasia OMIM:215140 LBR 3930 HP:0001877 Abnormality of erythrocytes OMIM:215140 LBR 3930 HP:0002566 Intestinal malrotation OMIM:215140 LBR 3930 HP:0001552 Barrel-shaped chest OMIM:215140 LBR 3930 HP:0000772 Abnormality of the ribs OMIM:215140 LBR 3930 HP:0004510 Pancreatic islet-cell hyperplasia OMIM:215140 LBR 3930 HP:0003021 Metaphyseal cupping OMIM:215140 LBR 3930 HP:0001978 Extramedullary hematopoiesis OMIM:215140 LBR 3930 HP:0008516 Abnormality of the vertebral spinous processes OMIM:215140 LBR 3930 HP:0001561 Polyhydramnios OMIM:215140 LBR 3930 HP:0005099 Severe hydrops fetalis OMIM:215140 LBR 3930 HP:0002202 Pleural effusion OMIM:215140 LBR 3930 HP:0004322 Short stature OMIM:215140 LBR 3930 HP:0001433 Hepatosplenomegaly OMIM:215140 LBR 3930 HP:0005280 Depressed nasal bridge OMIM:215140 LBR 3930 HP:0010675 Abnormal foot bone ossification OMIM:215140 LBR 3930 HP:0000773 Short ribs OMIM:215140 LBR 3930 HP:0001640 Cardiomegaly OMIM:215140 LBR 3930 HP:0001362 Skull defect OMIM:215140 LBR 3930 HP:0000369 Low-set ears OMIM:215140 LBR 3930 HP:0000692 Misalignment of teeth OMIM:215140 LBR 3930 HP:0009106 Abnormal pelvis bone ossification OMIM:215140 LBR 3930 HP:0004331 Decreased skull ossification OMIM:215140 LBR 3930 HP:0002694 Sclerosis of skull base OMIM:215140 LBR 3930 HP:0009826 Limb undergrowth OMIM:215140 LBR 3930 HP:0006637 Sternal punctate calcifications OMIM:215140 LBR 3930 HP:0006559 Hepatic calcification OMIM:215140 LBR 3930 HP:0003015 Flared metaphysis OMIM:215140 LBR 3930 HP:0001169 Broad palm OMIM:215140 LBR 3930 HP:0001830 Postaxial foot polydactyly OMIM:215140 LBR 3930 HP:0010655 Epiphyseal stippling OMIM:215140 LBR 3930 HP:0000782 Abnormality of the scapula OMIM:215140 LBR 3930 HP:0006487 Bowing of the long bones OMIM:215140 LBR 3930 HP:0003027 Mesomelia OMIM:215140 LBR 3930 HP:0010659 Patchy variation in bone mineral density OMIM:215140 LBR 3930 HP:0001156 Brachydactyly syndrome OMIM:215140 LBR 3930 HP:0009487 Ulnar deviation of the hand OMIM:215140 LBR 3930 HP:0100603 Toxemia of pregnancy OMIM:215140 LBR 3930 HP:0003107 Abnormality of cholesterol metabolism OMIM:215140 LBR 3930 HP:0005528 Bone marrow hypocellularity OMIM:215140 LBR 3930 HP:0001539 Omphalocele OMIM:215140 LBR 3930 HP:0002240 Hepatomegaly OMIM:215140 LBR 3930 HP:0008873 Disproportionate short-limb short stature OMIM:215140 LBR 3930 HP:0000878 11 pairs of ribs OMIM:215140 LBR 3930 HP:0001802 Absent toenail OMIM:613575 ARL6 84100 HP:0000510 Retinitis pigmentosa OMIM:613575 ARL6 84100 HP:0000007 Autosomal recessive inheritance OMIM:601287 SGCD 6444 HP:0007126 Proximal amyotrophy OMIM:601287 SGCD 6444 HP:0000007 Autosomal recessive inheritance OMIM:601287 SGCD 6444 HP:0002355 Difficulty walking OMIM:601287 SGCD 6444 HP:0003691 Scapular winging OMIM:601287 SGCD 6444 HP:0003701 Proximal muscle weakness OMIM:601287 SGCD 6444 HP:0003560 Muscular dystrophy OMIM:616282 CPT1C 126129 HP:0001347 Hyperreflexia OMIM:616282 CPT1C 126129 HP:0003202 Skeletal muscle atrophy OMIM:616282 CPT1C 126129 HP:0001760 Abnormality of the foot OMIM:616282 CPT1C 126129 HP:0002355 Difficulty walking OMIM:616282 CPT1C 126129 HP:0001258 Spastic paraplegia OMIM:616282 CPT1C 126129 HP:0003701 Proximal muscle weakness OMIM:616282 CPT1C 126129 HP:0003487 Babinski sign OMIM:201910 CYP21A2 1589 HP:0001945 Fever OMIM:201910 CYP21A2 1589 HP:0000822 Hypertension OMIM:201910 CYP21A2 1589 HP:0001943 Hypoglycemia OMIM:201910 CYP21A2 1589 HP:0000765 Abnormality of the thorax OMIM:201910 CYP21A2 1589 HP:0000771 Gynecomastia OMIM:201910 CYP21A2 1589 HP:0000007 Autosomal recessive inheritance OMIM:201910 CYP21A2 1589 HP:0001507 Growth abnormality OMIM:201910 CYP21A2 1589 HP:0000047 Hypospadias OMIM:201910 CYP21A2 1589 HP:0000127 Renal salt wasting OMIM:201910 CYP21A2 1589 HP:0008221 Adrenal hyperplasia OMIM:201910 CYP21A2 1589 HP:0000840 Adrenogenital syndrome OMIM:607459 POLG 5428 HP:0003581 Adult onset OMIM:607459 POLG 5428 HP:0003688 Decreased activity of cytochrome C oxidase in muscle tissue OMIM:607459 POLG 5428 HP:0007344 Atrophy/Degeneration involving the spinal cord OMIM:607459 POLG 5428 HP:0003812 Phenotypic variability OMIM:607459 POLG 5428 HP:0000639 Nystagmus OMIM:607459 POLG 5428 HP:0003701 Proximal muscle weakness OMIM:607459 POLG 5428 HP:0003557 Increased variability in muscle fiber diameter OMIM:607459 POLG 5428 HP:0001284 Areflexia OMIM:607459 POLG 5428 HP:0003390 Sensory axonal neuropathy OMIM:607459 POLG 5428 HP:0003548 Subsarcolemmal accumulations of abnormally shaped mitochondria OMIM:607459 POLG 5428 HP:0000716 Depression OMIM:607459 POLG 5428 HP:0001336 Myoclonus OMIM:607459 POLG 5428 HP:0100543 Cognitive impairment OMIM:607459 POLG 5428 HP:0002578 Gastroparesis OMIM:607459 POLG 5428 HP:0007240 Progressive gait ataxia OMIM:607459 POLG 5428 HP:0006886 Impaired distal vibration sensation OMIM:607459 POLG 5428 HP:0001265 Hyporeflexia OMIM:607459 POLG 5428 HP:0000518 Cataract OMIM:607459 POLG 5428 HP:0001644 Dilated cardiomyopathy OMIM:607459 POLG 5428 HP:0003200 Ragged-red muscle fibers OMIM:607459 POLG 5428 HP:0003434 Sensory ataxic neuropathy OMIM:607459 POLG 5428 HP:0000007 Autosomal recessive inheritance OMIM:607459 POLG 5428 HP:0003689 Multiple mitochondrial DNA deletions OMIM:607459 POLG 5428 HP:0001260 Dysarthria OMIM:607459 POLG 5428 HP:0000407 Sensorineural hearing impairment OMIM:607459 POLG 5428 HP:0003713 Muscle fiber necrosis OMIM:607459 POLG 5428 HP:0002076 Migraine OMIM:607459 POLG 5428 HP:0001250 Seizures OMIM:607459 POLG 5428 HP:0008180 Mildly elevated creatine phosphokinase OMIM:607459 POLG 5428 HP:0006858 Impaired distal proprioception OMIM:607459 POLG 5428 HP:0002151 Increased serum lactate OMIM:607459 POLG 5428 HP:0000508 Ptosis OMIM:607459 POLG 5428 HP:0004389 Intestinal pseudo-obstruction OMIM:607459 POLG 5428 HP:0001751 Vestibular dysfunction OMIM:607459 POLG 5428 HP:0002403 Positive Romberg sign OMIM:607459 POLG 5428 HP:0000590 Progressive external ophthalmoplegia OMIM:232800 PFKM 5213 HP:0001324 Muscle weakness OMIM:232800 PFKM 5213 HP:0003828 Variable expressivity OMIM:232800 PFKM 5213 HP:0001997 Gout OMIM:232800 PFKM 5213 HP:0030271 Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:232800 PFKM 5213 HP:0003202 Skeletal muscle atrophy OMIM:232800 PFKM 5213 HP:0003573 Increased total bilirubin OMIM:232800 PFKM 5213 HP:0001878 Hemolytic anemia OMIM:232800 PFKM 5213 HP:0003710 Exercise-induced muscle cramps OMIM:232800 PFKM 5213 HP:0008305 Exercise-induced myoglobinuria OMIM:232800 PFKM 5213 HP:0001081 Cholelithiasis OMIM:232800 PFKM 5213 HP:0001923 Reticulocytosis OMIM:232800 PFKM 5213 HP:0009051 Increased muscle glycogen content OMIM:232800 PFKM 5213 HP:0002486 Myotonia OMIM:232800 PFKM 5213 HP:0000007 Autosomal recessive inheritance OMIM:232800 PFKM 5213 HP:0003546 Exercise intolerance OMIM:232800 PFKM 5213 HP:0000952 Jaundice OMIM:616415 NTHL1 4913 HP:0008069 Neoplasm of the skin OMIM:616415 NTHL1 4913 HP:0003002 Breast carcinoma OMIM:262190 INSR 3643 HP:0006288 Advanced eruption of teeth OMIM:262190 INSR 3643 HP:0000819 Diabetes mellitus OMIM:262190 INSR 3643 HP:0000826 Precocious puberty OMIM:262190 INSR 3643 HP:0000842 Hyperinsulinemia OMIM:262190 INSR 3643 HP:0007495 Prematurely aged appearance OMIM:262190 INSR 3643 HP:0001231 Abnormality of the fingernails OMIM:262190 INSR 3643 HP:0000040 Long penis OMIM:262190 INSR 3643 HP:0001263 Global developmental delay OMIM:262190 INSR 3643 HP:0004540 Congenital, generalized hypertrichosis OMIM:262190 INSR 3643 HP:0000057 Clitoromegaly OMIM:262190 INSR 3643 HP:0000958 Dry skin OMIM:262190 INSR 3643 HP:0000956 Acanthosis nigricans OMIM:262190 INSR 3643 HP:0010458 Female pseudohermaphroditism OMIM:262190 INSR 3643 HP:0000845 Growth hormone excess OMIM:262190 INSR 3643 HP:0000303 Mandibular prognathia OMIM:262190 INSR 3643 HP:0003162 Fasting hypoglycemia OMIM:262190 INSR 3643 HP:0012542 Onychauxis OMIM:262190 INSR 3643 HP:0000998 Hypertrichosis OMIM:262190 INSR 3643 HP:0001943 Hypoglycemia OMIM:262190 INSR 3643 HP:0004322 Short stature OMIM:262190 INSR 3643 HP:0000280 Coarse facial features OMIM:262190 INSR 3643 HP:0000218 High palate OMIM:262190 INSR 3643 HP:0001953 Diabetic ketoacidosis OMIM:262190 INSR 3643 HP:0003074 Hyperglycemia OMIM:262190 INSR 3643 HP:0004298 Abnormality of the abdominal wall OMIM:262190 INSR 3643 HP:0010935 Abnormality of the upper urinary tract OMIM:262190 INSR 3643 HP:0000093 Proteinuria OMIM:262190 INSR 3643 HP:0001518 Small for gestational age OMIM:262190 INSR 3643 HP:0000007 Autosomal recessive inheritance OMIM:262190 INSR 3643 HP:0000831 Insulin-resistant diabetes mellitus OMIM:262190 INSR 3643 HP:0002208 Coarse hair OMIM:262190 INSR 3643 HP:0009830 Peripheral neuropathy OMIM:262190 INSR 3643 HP:0001156 Brachydactyly syndrome OMIM:262190 INSR 3643 HP:0001511 Intrauterine growth retardation OMIM:262190 INSR 3643 HP:0000820 Abnormality of the thyroid gland OMIM:262190 INSR 3643 HP:0000147 Polycystic ovaries OMIM:615338 TBC1D24 57465 HP:0200134 Epileptic encephalopathy OMIM:615338 TBC1D24 57465 HP:0003676 Progressive disorder OMIM:615338 TBC1D24 57465 HP:0001263 Global developmental delay OMIM:615338 TBC1D24 57465 HP:0002376 Developmental regression OMIM:615338 TBC1D24 57465 HP:0000252 Microcephaly OMIM:615338 TBC1D24 57465 HP:0000007 Autosomal recessive inheritance OMIM:615338 TBC1D24 57465 HP:0001269 Hemiparesis OMIM:615338 TBC1D24 57465 HP:0000648 Optic atrophy OMIM:615338 TBC1D24 57465 HP:0002071 Abnormality of extrapyramidal motor function OMIM:615338 TBC1D24 57465 HP:0001332 Dystonia OMIM:615338 TBC1D24 57465 HP:0002133 Status epilepticus OMIM:615338 TBC1D24 57465 HP:0006829 Severe muscular hypotonia OMIM:615338 TBC1D24 57465 HP:0012448 Delayed myelination OMIM:615338 TBC1D24 57465 HP:0000572 Visual loss OMIM:615338 TBC1D24 57465 HP:0001336 Myoclonus OMIM:262600 PROP1 5626 HP:0000846 Adrenal insufficiency OMIM:262600 PROP1 5626 HP:0000135 Hypogonadism OMIM:262600 PROP1 5626 HP:0008202 Prolactin deficiency OMIM:262600 PROP1 5626 HP:0000871 Panhypopituitarism OMIM:262600 PROP1 5626 HP:0004322 Short stature OMIM:262600 PROP1 5626 HP:0001998 Neonatal hypoglycemia OMIM:262600 PROP1 5626 HP:0000007 Autosomal recessive inheritance OMIM:262600 PROP1 5626 HP:0000821 Hypothyroidism OMIM:262600 PROP1 5626 HP:0002173 Hypoglycemic seizures OMIM:613835 CRB1 23418 HP:0000518 Cataract OMIM:613835 CRB1 23418 HP:0000505 Visual impairment OMIM:613835 CRB1 23418 HP:0008499 High-grade hypermetropia OMIM:613835 CRB1 23418 HP:0012043 Pendular nystagmus OMIM:613835 CRB1 23418 HP:0000550 Abolished electroretinogram (ERG) OMIM:613835 CRB1 23418 HP:0000007 Autosomal recessive inheritance OMIM:613835 CRB1 23418 HP:0000563 Keratoconus OMIM:604536 PKP1 5317 HP:0000958 Dry skin OMIM:604536 PKP1 5317 HP:0000982 Palmoplantar keratoderma OMIM:604536 PKP1 5317 HP:0000498 Blepharitis OMIM:604536 PKP1 5317 HP:0008066 Abnormal blistering of the skin OMIM:604536 PKP1 5317 HP:0010978 Abnormality of immune system physiology OMIM:604536 PKP1 5317 HP:0200042 Skin ulcer OMIM:604536 PKP1 5317 HP:0000989 Pruritus OMIM:604536 PKP1 5317 HP:0000221 Furrowed tongue OMIM:604536 PKP1 5317 HP:0002024 Malabsorption OMIM:604536 PKP1 5317 HP:0001597 Abnormality of the nail OMIM:604536 PKP1 5317 HP:0002224 Woolly hair OMIM:604536 PKP1 5317 HP:0000534 Abnormality of the eyebrow OMIM:604536 PKP1 5317 HP:0001030 Fragile skin OMIM:604536 PKP1 5317 HP:0000968 Ectodermal dysplasia OMIM:604536 PKP1 5317 HP:0001596 Alopecia OMIM:601952 POMP 51371 HP:0001367 Abnormal joint morphology OMIM:601952 POMP 51371 HP:0007479 Congenital nonbullous ichthyosiform erythroderma OMIM:601952 POMP 51371 HP:0000982 Palmoplantar keratoderma OMIM:601952 POMP 51371 HP:0001795 Hyperconvex nail OMIM:601952 POMP 51371 HP:0009775 Amniotic constriction ring OMIM:601952 POMP 51371 HP:0007465 Honeycomb palmoplantar keratoderma OMIM:601952 POMP 51371 HP:0000007 Autosomal recessive inheritance OMIM:601952 POMP 51371 HP:0008064 Ichthyosis OMIM:601952 POMP 51371 HP:0007490 Linear arrays of macular hyperkeratoses in flexural areas OMIM:601952 POMP 51371 HP:0008404 Nail dystrophy OMIM:601952 POMP 51371 HP:0001036 Parakeratosis OMIM:113900 SCN5A 6331 HP:0001645 Sudden cardiac death OMIM:113900 SCN5A 6331 HP:0011712 Right bundle branch block OMIM:113900 SCN5A 6331 HP:0011711 Left anterior fascicular block OMIM:113900 SCN5A 6331 HP:0000006 Autosomal dominant inheritance OMIM:113900 SCN5A 6331 HP:0002094 Dyspnea OMIM:113900 SCN5A 6331 HP:0001279 Syncope OMIM:113900 SCN5A 6331 HP:0005172 Left postterior fascicular block OMIM:113900 SCN5A 6331 HP:0001699 Sudden death OMIM:113900 SCN5A 6331 HP:0001425 Heterogeneous OMIM:113900 SCN5A 6331 HP:0005170 Complete heart block with broad RS complexes OMIM:613252 MYH6 4624 HP:0001644 Dilated cardiomyopathy OMIM:608051 PROM1 8842 HP:0008008 Progressive central visual loss OMIM:608051 PROM1 8842 HP:0007793 Macular retinal pigment epithelial mottling OMIM:608051 PROM1 8842 HP:0007754 Macular dystrophy OMIM:608051 PROM1 8842 HP:0007641 Dyschromatopsia OMIM:608051 PROM1 8842 HP:0000603 Central scotoma OMIM:608051 PROM1 8842 HP:0000006 Autosomal dominant inheritance OMIM:609889 RAG1 5896 HP:0004430 Severe combined immunodeficiency OMIM:609889 RAG1 5896 HP:0001878 Hemolytic anemia OMIM:609889 RAG1 5896 HP:0005374 Cellular immunodeficiency OMIM:609889 RAG1 5896 HP:0001744 Splenomegaly OMIM:609889 RAG1 5896 HP:0001874 Abnormality of neutrophils OMIM:609889 RAG1 5896 HP:0002960 Autoimmunity OMIM:609889 RAG1 5896 HP:0100806 Sepsis OMIM:616346 DNM1 1759 HP:0001344 Absent speech OMIM:616346 DNM1 1759 HP:0001263 Global developmental delay OMIM:616346 DNM1 1759 HP:0002059 Cerebral atrophy OMIM:616346 DNM1 1759 HP:0002540 Inability to walk OMIM:616346 DNM1 1759 HP:0001250 Seizures OMIM:616346 DNM1 1759 HP:0002355 Difficulty walking OMIM:616346 DNM1 1759 HP:0100716 Self-injurious behavior OMIM:616346 DNM1 1759 HP:0002376 Developmental regression OMIM:616346 DNM1 1759 HP:0001252 Muscular hypotonia OMIM:616346 DNM1 1759 HP:0200134 Epileptic encephalopathy OMIM:616295 CAST 831 HP:0030318 Angular cheilitis OMIM:616295 CAST 831 HP:0000982 Palmoplantar keratoderma OMIM:266140 SPTA1 6708 HP:0001878 Hemolytic anemia OMIM:266140 SPTA1 6708 HP:0004445 Elliptocytosis OMIM:266140 SPTA1 6708 HP:0004835 Microspherocytosis OMIM:266140 SPTA1 6708 HP:0000007 Autosomal recessive inheritance OMIM:266140 SPTA1 6708 HP:0004839 Pyropoikilocytosis OMIM:104510 DLX3 1747 HP:0000705 Amelogenesis imperfecta OMIM:104510 DLX3 1747 HP:0000006 Autosomal dominant inheritance OMIM:104510 DLX3 1747 HP:0000679 Taurodontia OMIM:266130 GSS 2937 HP:0001249 Intellectual disability OMIM:266130 GSS 2937 HP:0001250 Seizures OMIM:266130 GSS 2937 HP:0001285 Spastic tetraparesis OMIM:266130 GSS 2937 HP:0001878 Hemolytic anemia OMIM:266130 GSS 2937 HP:0001996 Chronic metabolic acidosis OMIM:266130 GSS 2937 HP:0001260 Dysarthria OMIM:266130 GSS 2937 HP:0007703 Abnormal retinal pigmentation OMIM:266130 GSS 2937 HP:0200099 Peripheral retinal pigmentation abnormalities OMIM:266130 GSS 2937 HP:0001345 Psychotic mentation OMIM:266130 GSS 2937 HP:0002080 Intention tremor OMIM:266130 GSS 2937 HP:0000007 Autosomal recessive inheritance OMIM:266130 GSS 2937 HP:0003343 Glutathione synthetase deficiency OMIM:266130 GSS 2937 HP:0001251 Ataxia OMIM:266130 GSS 2937 HP:0001875 Neutropenia OMIM:125350 PTH1R 5745 HP:0000006 Autosomal dominant inheritance OMIM:125350 PTH1R 5745 HP:0006335 Persistence of primary teeth OMIM:125350 PTH1R 5745 HP:0000668 Hypodontia OMIM:125350 PTH1R 5745 HP:0006352 Failure of eruption of permanent teeth OMIM:610688 TMEM67 91147 HP:0002419 Molar tooth sign on MRI OMIM:610688 TMEM67 91147 HP:0001252 Muscular hypotonia OMIM:610688 TMEM67 91147 HP:0100951 Enlarged fossa interpeduncularis OMIM:610688 TMEM67 91147 HP:0000618 Blindness OMIM:610688 TMEM67 91147 HP:0000657 Oculomotor apraxia OMIM:610688 TMEM67 91147 HP:0005957 Breathing dysregulation OMIM:610688 TMEM67 91147 HP:0001251 Ataxia OMIM:610688 TMEM67 91147 HP:0001249 Intellectual disability OMIM:610688 TMEM67 91147 HP:0003774 Stage 5 chronic kidney disease OMIM:610688 TMEM67 91147 HP:0002404 Thickened superior cerebellar peduncle OMIM:610688 TMEM67 91147 HP:0000090 Nephronophthisis OMIM:610688 TMEM67 91147 HP:0000546 Retinal degeneration OMIM:610688 TMEM67 91147 HP:0001263 Global developmental delay OMIM:610688 TMEM67 91147 HP:0011933 Elongated superior cerebellar peduncle OMIM:610688 TMEM67 91147 HP:0000007 Autosomal recessive inheritance OMIM:610688 TMEM67 91147 HP:0001408 Bile duct proliferation OMIM:610688 TMEM67 91147 HP:0001395 Hepatic fibrosis OMIM:610688 TMEM67 91147 HP:0001320 Cerebellar vermis hypoplasia OMIM:610688 TMEM67 91147 HP:0000567 Chorioretinal coloboma OMIM:606835 TRPV4 59341 HP:0001156 Brachydactyly syndrome OMIM:606835 TRPV4 59341 HP:0009466 Radial deviation of finger OMIM:606835 TRPV4 59341 HP:0000006 Autosomal dominant inheritance OMIM:606835 TRPV4 59341 HP:0003795 Short middle phalanx of toe OMIM:606835 TRPV4 59341 HP:0003040 Arthropathy OMIM:606835 TRPV4 59341 HP:0001857 Short distal phalanx of toe OMIM:606835 TRPV4 59341 HP:0009882 Short distal phalanx of finger OMIM:606835 TRPV4 59341 HP:0005819 Short middle phalanx of finger OMIM:606835 TRPV4 59341 HP:0005872 Brachytelomesophalangy OMIM:606835 TRPV4 59341 HP:0003621 Juvenile onset OMIM:203200 OCA2 4948 HP:0002297 Red hair OMIM:203200 OCA2 4948 HP:0001107 Ocular albinism OMIM:203200 OCA2 4948 HP:0007894 Hypopigmentation of the fundus OMIM:203200 OCA2 4948 HP:0000639 Nystagmus OMIM:203200 OCA2 4948 HP:0007603 Freckles in sun-exposed areas OMIM:203200 OCA2 4948 HP:0000613 Photophobia OMIM:203200 OCA2 4948 HP:0000648 Optic atrophy OMIM:203200 OCA2 4948 HP:0002861 Melanoma OMIM:203200 OCA2 4948 HP:0000007 Autosomal recessive inheritance OMIM:203200 OCA2 4948 HP:0000635 Blue irides OMIM:203200 OCA2 4948 HP:0000505 Visual impairment OMIM:203200 OCA2 4948 HP:0000486 Strabismus OMIM:203200 OCA2 4948 HP:0001022 Albinism OMIM:203200 OCA2 4948 HP:0008069 Neoplasm of the skin OMIM:203200 OCA2 4948 HP:0001480 Freckling OMIM:203200 OCA2 4948 HP:0007750 Hypoplasia of the fovea OMIM:615980 LIPE 3991 HP:0001397 Hepatic steatosis OMIM:615980 LIPE 3991 HP:0003560 Muscular dystrophy OMIM:615980 LIPE 3991 HP:0003119 Abnormality of lipid metabolism OMIM:615980 LIPE 3991 HP:0012743 Abdominal obesity OMIM:615980 LIPE 3991 HP:0003236 Elevated serum creatine phosphokinase OMIM:615980 LIPE 3991 HP:0000855 Insulin resistance OMIM:615041 TMEM5 10329 HP:0003560 Muscular dystrophy OMIM:615041 TMEM5 10329 HP:0000133 Gonadal dysgenesis OMIM:615041 TMEM5 10329 HP:0000007 Autosomal recessive inheritance OMIM:615041 TMEM5 10329 HP:0007260 Type II lissencephaly OMIM:615041 TMEM5 10329 HP:0007033 Cerebellar dysplasia OMIM:615041 TMEM5 10329 HP:0007973 Retinal dysplasia OMIM:613496 CD81 975 HP:0000979 Purpura OMIM:613496 CD81 975 HP:0002718 Recurrent bacterial infections OMIM:613496 CD81 975 HP:0004313 Hypogammaglobulinemia OMIM:613496 CD81 975 HP:0002721 Immunodeficiency OMIM:613496 CD81 975 HP:0000007 Autosomal recessive inheritance OMIM:613496 CD81 975 HP:0002205 Recurrent respiratory infections OMIM:209950 IFNGR1 3459 HP:0001871 Abnormality of blood and blood-forming tissues OMIM:209950 IFNGR1 3459 HP:0001438 Abnormality of the abdomen OMIM:209950 IFNGR1 3459 HP:0005661 Salmonella osteomyelitis OMIM:209950 IFNGR1 3459 HP:0000007 Autosomal recessive inheritance OMIM:603194 TMEM216 51259 HP:0006487 Bowing of the long bones OMIM:603194 TMEM216 51259 HP:0002084 Encephalocele OMIM:603194 TMEM216 51259 HP:0002435 Meningocele OMIM:603194 TMEM216 51259 HP:0001162 Postaxial hand polydactyly OMIM:603194 TMEM216 51259 HP:0000175 Cleft palate OMIM:603194 TMEM216 51259 HP:0010442 Polydactyly OMIM:603194 TMEM216 51259 HP:0001408 Bile duct proliferation OMIM:603194 TMEM216 51259 HP:0000568 Microphthalmos OMIM:603194 TMEM216 51259 HP:0002323 Anencephaly OMIM:603194 TMEM216 51259 HP:0001511 Intrauterine growth retardation OMIM:603194 TMEM216 51259 HP:0001305 Dandy-Walker malformation OMIM:603194 TMEM216 51259 HP:0000007 Autosomal recessive inheritance OMIM:603194 TMEM216 51259 HP:0000107 Renal cyst OMIM:614820 ATP1A3 478 HP:0002301 Hemiplegia OMIM:614820 ATP1A3 478 HP:0002133 Status epilepticus OMIM:614820 ATP1A3 478 HP:0001251 Ataxia OMIM:614820 ATP1A3 478 HP:0200072 Episodic quadriplegia OMIM:614820 ATP1A3 478 HP:0001268 Mental deterioration OMIM:614820 ATP1A3 478 HP:0001263 Global developmental delay OMIM:614820 ATP1A3 478 HP:0000496 Abnormality of eye movement OMIM:614820 ATP1A3 478 HP:0001266 Choreoathetosis OMIM:614820 ATP1A3 478 HP:0000006 Autosomal dominant inheritance OMIM:614820 ATP1A3 478 HP:0001332 Dystonia OMIM:608930 CHRNA1 1134 HP:0000218 High palate OMIM:608930 CHRNA1 1134 HP:0001270 Motor delay OMIM:608930 CHRNA1 1134 HP:0010628 Facial palsy OMIM:608930 CHRNA1 1134 HP:0003828 Variable expressivity OMIM:608930 CHRNA1 1134 HP:0000007 Autosomal recessive inheritance OMIM:608930 CHRNA1 1134 HP:0003388 Easy fatigability OMIM:608930 CHRNA1 1134 HP:0003554 Type 2 muscle fiber atrophy OMIM:608930 CHRNA1 1134 HP:0001612 Weak cry OMIM:608930 CHRNA1 1134 HP:0002015 Dysphagia OMIM:608930 CHRNA1 1134 HP:0003391 Gowers sign OMIM:608930 CHRNA1 1134 HP:0003402 Decreased miniature endplate potentials OMIM:608930 CHRNA1 1134 HP:0000597 Ophthalmoparesis OMIM:608930 CHRNA1 1134 HP:0000006 Autosomal dominant inheritance OMIM:608930 CHRNA1 1134 HP:0002033 Poor suck OMIM:608930 CHRNA1 1134 HP:0000467 Neck muscle weakness OMIM:608930 CHRNA1 1134 HP:0001260 Dysarthria OMIM:608930 CHRNA1 1134 HP:0000508 Ptosis OMIM:608930 CHRNA1 1134 HP:0000400 Macrotia OMIM:608930 CHRNA1 1134 HP:0002804 Arthrogryposis multiplex congenita OMIM:608930 CHRNA1 1134 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:608930 CHRNA1 1134 HP:0000347 Micrognathia OMIM:608930 CHRNA1 1134 HP:0003324 Generalized muscle weakness OMIM:608930 CHRNA1 1134 HP:0003593 Infantile onset OMIM:608930 CHRNA1 1134 HP:0002650 Scoliosis OMIM:608930 CHRNA1 1134 HP:0001283 Bulbar palsy OMIM:608930 CHRNA1 1134 HP:0001252 Muscular hypotonia OMIM:273750 CUL7 9820 HP:0010306 Short thorax OMIM:273750 CUL7 9820 HP:0002643 Neonatal respiratory distress OMIM:273750 CUL7 9820 HP:0008897 Postnatal growth retardation OMIM:273750 CUL7 9820 HP:0000325 Triangular face OMIM:273750 CUL7 9820 HP:0001382 Joint hypermobility OMIM:273750 CUL7 9820 HP:0001518 Small for gestational age OMIM:273750 CUL7 9820 HP:0008839 Hypoplastic pelvis OMIM:273750 CUL7 9820 HP:0000343 Long philtrum OMIM:273750 CUL7 9820 HP:0002827 Hip dislocation OMIM:273750 CUL7 9820 HP:0000179 Thick lower lip vermilion OMIM:273750 CUL7 9820 HP:0003298 Spina bifida occulta OMIM:273750 CUL7 9820 HP:0000268 Dolichocephaly OMIM:273750 CUL7 9820 HP:0000303 Mandibular prognathia OMIM:273750 CUL7 9820 HP:0003691 Scapular winging OMIM:273750 CUL7 9820 HP:0000272 Malar flattening OMIM:273750 CUL7 9820 HP:0009237 Short 5th finger OMIM:273750 CUL7 9820 HP:0003307 Hyperlordosis OMIM:273750 CUL7 9820 HP:0000463 Anteverted nares OMIM:273750 CUL7 9820 HP:0005280 Depressed nasal bridge OMIM:273750 CUL7 9820 HP:0000007 Autosomal recessive inheritance OMIM:273750 CUL7 9820 HP:0001763 Pes planus OMIM:273750 CUL7 9820 HP:0008734 Decreased testicular size OMIM:273750 CUL7 9820 HP:0000307 Pointed chin OMIM:273750 CUL7 9820 HP:0003100 Slender long bone OMIM:273750 CUL7 9820 HP:0000773 Short ribs OMIM:273750 CUL7 9820 HP:0004570 Increased vertebral height OMIM:273750 CUL7 9820 HP:0001511 Intrauterine growth retardation OMIM:273750 CUL7 9820 HP:0002007 Frontal bossing OMIM:273750 CUL7 9820 HP:0000574 Thick eyebrow OMIM:273750 CUL7 9820 HP:0000470 Short neck OMIM:273750 CUL7 9820 HP:0000767 Pectus excavatum OMIM:273750 CUL7 9820 HP:0002750 Delayed skeletal maturation OMIM:273750 CUL7 9820 HP:0000047 Hypospadias OMIM:273750 CUL7 9820 HP:0004322 Short stature OMIM:273750 CUL7 9820 HP:0004209 Clinodactyly of the 5th finger OMIM:611561 RPGRIP1L 23322 HP:0000007 Autosomal recessive inheritance OMIM:611561 RPGRIP1L 23322 HP:0000175 Cleft palate OMIM:611561 RPGRIP1L 23322 HP:0001408 Bile duct proliferation OMIM:611561 RPGRIP1L 23322 HP:0002323 Anencephaly OMIM:611561 RPGRIP1L 23322 HP:0001162 Postaxial hand polydactyly OMIM:611561 RPGRIP1L 23322 HP:0002085 Occipital encephalocele OMIM:611561 RPGRIP1L 23322 HP:0006487 Bowing of the long bones OMIM:611561 RPGRIP1L 23322 HP:0001830 Postaxial foot polydactyly OMIM:611561 RPGRIP1L 23322 HP:0001425 Heterogeneous OMIM:611561 RPGRIP1L 23322 HP:0000204 Cleft upper lip OMIM:611561 RPGRIP1L 23322 HP:0000079 Abnormality of the urinary system OMIM:611561 RPGRIP1L 23322 HP:0000568 Microphthalmos OMIM:300908 G6PD 2539 HP:0006579 Prolonged neonatal jaundice OMIM:300908 G6PD 2539 HP:0008282 Unconjugated hyperbilirubinemia OMIM:300908 G6PD 2539 HP:0004814 Fava bean-induced hemolytic anemia OMIM:300908 G6PD 2539 HP:0001923 Reticulocytosis OMIM:308700 ANOS1 3730 HP:0000054 Micropenis OMIM:308700 ANOS1 3730 HP:0001341 Olfactory lobe agenesis OMIM:308700 ANOS1 3730 HP:0003782 Eunuchoid habitus OMIM:308700 ANOS1 3730 HP:0001335 Bimanual synkinesia OMIM:308700 ANOS1 3730 HP:0000218 High palate OMIM:308700 ANOS1 3730 HP:0030341 Decreased circulating follicle stimulating hormone level OMIM:308700 ANOS1 3730 HP:0030344 Decreased circulating luteinizing hormone level OMIM:308700 ANOS1 3730 HP:0002929 Leydig cell insensitivity to gonadotropin OMIM:308700 ANOS1 3730 HP:0001417 X-linked inheritance OMIM:308700 ANOS1 3730 HP:0001761 Pes cavus OMIM:308700 ANOS1 3730 HP:0003295 Impaired FSH and LH secretion OMIM:308700 ANOS1 3730 HP:0000029 Testicular atrophy OMIM:308700 ANOS1 3730 HP:0001251 Ataxia OMIM:308700 ANOS1 3730 HP:0000122 Unilateral renal agenesis OMIM:308700 ANOS1 3730 HP:0000044 Hypogonadotrophic hypogonadism OMIM:308700 ANOS1 3730 HP:0000458 Anosmia OMIM:308700 ANOS1 3730 HP:0000771 Gynecomastia OMIM:308700 ANOS1 3730 HP:0002225 Sparse pubic hair OMIM:308700 ANOS1 3730 HP:0003164 Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency OMIM:308700 ANOS1 3730 HP:0000028 Cryptorchidism ORPHANET:2855 CLPP 8192 HP:0100543 Cognitive impairment ORPHANET:2855 CLPP 8192 HP:0000657 Oculomotor apraxia ORPHANET:2855 CLPP 8192 HP:0000869 Secondary amenorrhea ORPHANET:2855 CLPP 8192 HP:0000508 Ptosis ORPHANET:2855 CLPP 8192 HP:0000786 Primary amenorrhea ORPHANET:2855 CLPP 8192 HP:0004374 Hemiplegia/hemiparesis ORPHANET:2855 CLPP 8192 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2855 CLPP 8192 HP:0002650 Scoliosis ORPHANET:2855 CLPP 8192 HP:0000639 Nystagmus ORPHANET:2855 CLPP 8192 HP:0000597 Ophthalmoparesis ORPHANET:2855 CLPP 8192 HP:0009830 Peripheral neuropathy ORPHANET:2855 CLPP 8192 HP:0004322 Short stature ORPHANET:2855 CLPP 8192 HP:0002311 Incoordination ORPHANET:2855 CLPP 8192 HP:0000147 Polycystic ovaries ORPHANET:2855 CLPP 8192 HP:0000762 Decreased nerve conduction velocity ORPHANET:2855 CLPP 8192 HP:0002120 Cerebral cortical atrophy ORPHANET:2855 CLPP 8192 HP:0000407 Sensorineural hearing impairment ORPHANET:2855 HARS2 23438 HP:0100543 Cognitive impairment ORPHANET:2855 HARS2 23438 HP:0000657 Oculomotor apraxia ORPHANET:2855 HARS2 23438 HP:0000869 Secondary amenorrhea ORPHANET:2855 HARS2 23438 HP:0000508 Ptosis ORPHANET:2855 HARS2 23438 HP:0000786 Primary amenorrhea ORPHANET:2855 HARS2 23438 HP:0004374 Hemiplegia/hemiparesis ORPHANET:2855 HARS2 23438 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2855 HARS2 23438 HP:0002650 Scoliosis ORPHANET:2855 HARS2 23438 HP:0000639 Nystagmus ORPHANET:2855 HARS2 23438 HP:0000597 Ophthalmoparesis ORPHANET:2855 HARS2 23438 HP:0009830 Peripheral neuropathy ORPHANET:2855 HARS2 23438 HP:0004322 Short stature ORPHANET:2855 HARS2 23438 HP:0002311 Incoordination ORPHANET:2855 HARS2 23438 HP:0000147 Polycystic ovaries ORPHANET:2855 HARS2 23438 HP:0000762 Decreased nerve conduction velocity ORPHANET:2855 HARS2 23438 HP:0002120 Cerebral cortical atrophy ORPHANET:2855 HARS2 23438 HP:0000407 Sensorineural hearing impairment ORPHANET:2855 LARS2 23395 HP:0100543 Cognitive impairment ORPHANET:2855 LARS2 23395 HP:0000657 Oculomotor apraxia ORPHANET:2855 LARS2 23395 HP:0000869 Secondary amenorrhea ORPHANET:2855 LARS2 23395 HP:0000508 Ptosis ORPHANET:2855 LARS2 23395 HP:0000786 Primary amenorrhea ORPHANET:2855 LARS2 23395 HP:0004374 Hemiplegia/hemiparesis ORPHANET:2855 LARS2 23395 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2855 LARS2 23395 HP:0002650 Scoliosis ORPHANET:2855 LARS2 23395 HP:0000639 Nystagmus ORPHANET:2855 LARS2 23395 HP:0000597 Ophthalmoparesis ORPHANET:2855 LARS2 23395 HP:0009830 Peripheral neuropathy ORPHANET:2855 LARS2 23395 HP:0004322 Short stature ORPHANET:2855 LARS2 23395 HP:0002311 Incoordination ORPHANET:2855 LARS2 23395 HP:0000147 Polycystic ovaries ORPHANET:2855 LARS2 23395 HP:0000762 Decreased nerve conduction velocity ORPHANET:2855 LARS2 23395 HP:0002120 Cerebral cortical atrophy ORPHANET:2855 LARS2 23395 HP:0000407 Sensorineural hearing impairment ORPHANET:2855 HSD17B4 3295 HP:0100543 Cognitive impairment ORPHANET:2855 HSD17B4 3295 HP:0000657 Oculomotor apraxia ORPHANET:2855 HSD17B4 3295 HP:0000869 Secondary amenorrhea ORPHANET:2855 HSD17B4 3295 HP:0000508 Ptosis ORPHANET:2855 HSD17B4 3295 HP:0000786 Primary amenorrhea ORPHANET:2855 HSD17B4 3295 HP:0004374 Hemiplegia/hemiparesis ORPHANET:2855 HSD17B4 3295 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2855 HSD17B4 3295 HP:0002650 Scoliosis ORPHANET:2855 HSD17B4 3295 HP:0000639 Nystagmus ORPHANET:2855 HSD17B4 3295 HP:0000597 Ophthalmoparesis ORPHANET:2855 HSD17B4 3295 HP:0009830 Peripheral neuropathy ORPHANET:2855 HSD17B4 3295 HP:0004322 Short stature ORPHANET:2855 HSD17B4 3295 HP:0002311 Incoordination ORPHANET:2855 HSD17B4 3295 HP:0000147 Polycystic ovaries ORPHANET:2855 HSD17B4 3295 HP:0000762 Decreased nerve conduction velocity ORPHANET:2855 HSD17B4 3295 HP:0002120 Cerebral cortical atrophy ORPHANET:2855 HSD17B4 3295 HP:0000407 Sensorineural hearing impairment ORPHANET:2855 C10ORF2 56652 HP:0100543 Cognitive impairment ORPHANET:2855 C10ORF2 56652 HP:0000657 Oculomotor apraxia ORPHANET:2855 C10ORF2 56652 HP:0000869 Secondary amenorrhea ORPHANET:2855 C10ORF2 56652 HP:0000508 Ptosis ORPHANET:2855 C10ORF2 56652 HP:0000786 Primary amenorrhea ORPHANET:2855 C10ORF2 56652 HP:0004374 Hemiplegia/hemiparesis ORPHANET:2855 C10ORF2 56652 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2855 C10ORF2 56652 HP:0002650 Scoliosis ORPHANET:2855 C10ORF2 56652 HP:0000639 Nystagmus ORPHANET:2855 C10ORF2 56652 HP:0000597 Ophthalmoparesis ORPHANET:2855 C10ORF2 56652 HP:0009830 Peripheral neuropathy ORPHANET:2855 C10ORF2 56652 HP:0004322 Short stature ORPHANET:2855 C10ORF2 56652 HP:0002311 Incoordination ORPHANET:2855 C10ORF2 56652 HP:0000147 Polycystic ovaries ORPHANET:2855 C10ORF2 56652 HP:0000762 Decreased nerve conduction velocity ORPHANET:2855 C10ORF2 56652 HP:0002120 Cerebral cortical atrophy ORPHANET:2855 C10ORF2 56652 HP:0000407 Sensorineural hearing impairment OMIM:262850 SERPINF2 5345 HP:0012151 Hemothorax OMIM:262850 SERPINF2 5345 HP:0000978 Bruising susceptibility OMIM:262850 SERPINF2 5345 HP:0001934 Persistent bleeding after trauma OMIM:262850 SERPINF2 5345 HP:0005261 Joint hemorrhage OMIM:262850 SERPINF2 5345 HP:0000007 Autosomal recessive inheritance ORPHANET:659 MBTPS2 51360 HP:0004348 Abnormality of bone mineral density ORPHANET:659 MBTPS2 51360 HP:0001596 Alopecia ORPHANET:659 MBTPS2 51360 HP:0100526 Neoplasm of the lung ORPHANET:659 MBTPS2 51360 HP:0000407 Sensorineural hearing impairment ORPHANET:659 MBTPS2 51360 HP:0001376 Limitation of joint mobility ORPHANET:659 MBTPS2 51360 HP:0002861 Melanoma ORPHANET:659 MBTPS2 51360 HP:0000982 Palmoplantar keratoderma ORPHANET:659 MBTPS2 51360 HP:0000670 Carious teeth ORPHANET:659 MBTPS2 51360 HP:0002797 Osteolysis ORPHANET:659 MBTPS2 51360 HP:0009804 Reduced number of teeth ORPHANET:659 MBTPS2 51360 HP:0000966 Hypohidrosis ORPHANET:659 MBTPS2 51360 HP:0001250 Seizures ORPHANET:659 MBTPS2 51360 HP:0200042 Skin ulcer ORPHANET:659 MBTPS2 51360 HP:0001231 Abnormality of the fingernails ORPHANET:659 MBTPS2 51360 HP:0008069 Neoplasm of the skin ORPHANET:659 TRPV3 162514 HP:0004348 Abnormality of bone mineral density ORPHANET:659 TRPV3 162514 HP:0001596 Alopecia ORPHANET:659 TRPV3 162514 HP:0100526 Neoplasm of the lung ORPHANET:659 TRPV3 162514 HP:0000407 Sensorineural hearing impairment ORPHANET:659 TRPV3 162514 HP:0001376 Limitation of joint mobility ORPHANET:659 TRPV3 162514 HP:0002861 Melanoma ORPHANET:659 TRPV3 162514 HP:0000982 Palmoplantar keratoderma ORPHANET:659 TRPV3 162514 HP:0000670 Carious teeth ORPHANET:659 TRPV3 162514 HP:0002797 Osteolysis ORPHANET:659 TRPV3 162514 HP:0009804 Reduced number of teeth ORPHANET:659 TRPV3 162514 HP:0000966 Hypohidrosis ORPHANET:659 TRPV3 162514 HP:0001250 Seizures ORPHANET:659 TRPV3 162514 HP:0200042 Skin ulcer ORPHANET:659 TRPV3 162514 HP:0001231 Abnormality of the fingernails ORPHANET:659 TRPV3 162514 HP:0008069 Neoplasm of the skin OMIM:300323 HPRT1 3251 HP:0000787 Nephrolithiasis OMIM:300323 HPRT1 3251 HP:0000083 Renal insufficiency OMIM:300323 HPRT1 3251 HP:0001419 X-linked recessive inheritance OMIM:300323 HPRT1 3251 HP:0001854 Gout (feet) OMIM:300323 HPRT1 3251 HP:0003149 Hyperuricosuria OMIM:310700 FRMD7 90167 HP:0006934 Congenital nystagmus OMIM:310700 FRMD7 90167 HP:0012043 Pendular nystagmus OMIM:310700 FRMD7 90167 HP:0000666 Horizontal nystagmus OMIM:310700 FRMD7 90167 HP:0001419 X-linked recessive inheritance OMIM:310700 FRMD7 90167 HP:0007739 Mildly reduced visual acuity OMIM:310700 FRMD7 90167 HP:0001423 X-linked dominant inheritance OMIM:310700 FRMD7 90167 HP:0003593 Infantile onset OMIM:310700 FRMD7 90167 HP:0001425 Heterogeneous OMIM:603516 ATXN10 25814 HP:0007256 Abnormal pyramidal signs OMIM:603516 ATXN10 25814 HP:0002075 Dysdiadochokinesis OMIM:603516 ATXN10 25814 HP:0002073 Progressive cerebellar ataxia OMIM:603516 ATXN10 25814 HP:0003743 Genetic anticipation OMIM:603516 ATXN10 25814 HP:0000012 Urinary urgency OMIM:603516 ATXN10 25814 HP:0002168 Scanning speech OMIM:603516 ATXN10 25814 HP:0001272 Cerebellar atrophy OMIM:603516 ATXN10 25814 HP:0000639 Nystagmus OMIM:603516 ATXN10 25814 HP:0001250 Seizures OMIM:603516 ATXN10 25814 HP:0000716 Depression OMIM:603516 ATXN10 25814 HP:0002071 Abnormality of extrapyramidal motor function OMIM:603516 ATXN10 25814 HP:0000726 Dementia OMIM:603516 ATXN10 25814 HP:0002066 Gait ataxia OMIM:603516 ATXN10 25814 HP:0002062 Morphological abnormality of the pyramidal tract OMIM:603516 ATXN10 25814 HP:0002015 Dysphagia OMIM:603516 ATXN10 25814 HP:0002311 Incoordination OMIM:603516 ATXN10 25814 HP:0001347 Hyperreflexia OMIM:603516 ATXN10 25814 HP:0001310 Dysmetria OMIM:603516 ATXN10 25814 HP:0000020 Urinary incontinence OMIM:603516 ATXN10 25814 HP:0002070 Limb ataxia OMIM:603516 ATXN10 25814 HP:0003829 Incomplete penetrance OMIM:603516 ATXN10 25814 HP:0000762 Decreased nerve conduction velocity OMIM:603516 ATXN10 25814 HP:0000006 Autosomal dominant inheritance OMIM:603516 ATXN10 25814 HP:0001260 Dysarthria OMIM:265000 CHRNG 1146 HP:0100490 Camptodactyly of finger OMIM:265000 CHRNG 1146 HP:0000343 Long philtrum OMIM:265000 CHRNG 1146 HP:0001646 Abnormality of the aortic valve OMIM:265000 CHRNG 1146 HP:0002650 Scoliosis OMIM:265000 CHRNG 1146 HP:0009759 Neck pterygia OMIM:265000 CHRNG 1146 HP:0000776 Congenital diaphragmatic hernia OMIM:265000 CHRNG 1146 HP:0000055 Abnormality of female external genitalia OMIM:265000 CHRNG 1146 HP:0000890 Long clavicles OMIM:265000 CHRNG 1146 HP:0009756 Popliteal pterygium OMIM:265000 CHRNG 1146 HP:0001376 Limitation of joint mobility OMIM:265000 CHRNG 1146 HP:0008065 Aplasia/Hypoplasia of the skin OMIM:265000 CHRNG 1146 HP:0009760 Antecubital pterygium OMIM:265000 CHRNG 1146 HP:0000347 Micrognathia OMIM:265000 CHRNG 1146 HP:0000494 Downslanted palpebral fissures OMIM:265000 CHRNG 1146 HP:0002557 Hypoplastic nipples OMIM:265000 CHRNG 1146 HP:0003298 Spina bifida occulta OMIM:265000 CHRNG 1146 HP:0000286 Epicanthus OMIM:265000 CHRNG 1146 HP:0000307 Pointed chin OMIM:265000 CHRNG 1146 HP:0001166 Arachnodactyly OMIM:265000 CHRNG 1146 HP:0001724 Aortic dilatation OMIM:265000 CHRNG 1146 HP:0000268 Dolichocephaly OMIM:265000 CHRNG 1146 HP:0000023 Inguinal hernia OMIM:265000 CHRNG 1146 HP:0006443 Patellar aplasia OMIM:265000 CHRNG 1146 HP:0009757 Intercrural pterygium OMIM:265000 CHRNG 1146 HP:0000028 Cryptorchidism OMIM:265000 CHRNG 1146 HP:0000316 Hypertelorism OMIM:265000 CHRNG 1146 HP:0004322 Short stature OMIM:265000 CHRNG 1146 HP:0000506 Telecanthus OMIM:265000 CHRNG 1146 HP:0001537 Umbilical hernia OMIM:265000 CHRNG 1146 HP:0000902 Rib fusion OMIM:265000 CHRNG 1146 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:265000 CHRNG 1146 HP:0001838 Rocker bottom foot OMIM:265000 CHRNG 1146 HP:0002714 Downturned corners of mouth OMIM:265000 CHRNG 1146 HP:0005617 Bilateral camptodactyly OMIM:265000 CHRNG 1146 HP:0000486 Strabismus OMIM:265000 CHRNG 1146 HP:0001836 Camptodactyly of toe OMIM:265000 CHRNG 1146 HP:0000276 Long face OMIM:265000 CHRNG 1146 HP:0009773 Symphalangism affecting the phalanges of the hand OMIM:265000 CHRNG 1146 HP:0002012 Abnormality of the abdominal organs OMIM:265000 CHRNG 1146 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature OMIM:265000 CHRNG 1146 HP:0001511 Intrauterine growth retardation OMIM:265000 CHRNG 1146 HP:0000508 Ptosis OMIM:265000 CHRNG 1146 HP:0002089 Pulmonary hypoplasia OMIM:265000 CHRNG 1146 HP:0000047 Hypospadias OMIM:265000 CHRNG 1146 HP:0002827 Hip dislocation OMIM:265000 CHRNG 1146 HP:0001760 Abnormality of the foot OMIM:265000 CHRNG 1146 HP:0000218 High palate OMIM:265000 CHRNG 1146 HP:0100543 Cognitive impairment OMIM:265000 CHRNG 1146 HP:0002093 Respiratory insufficiency OMIM:265000 CHRNG 1146 HP:0002804 Arthrogryposis multiplex congenita OMIM:265000 CHRNG 1146 HP:0006446 Dysplastic patella OMIM:265000 CHRNG 1146 HP:0006101 Finger syndactyly OMIM:265000 CHRNG 1146 HP:0000767 Pectus excavatum OMIM:265000 CHRNG 1146 HP:0000368 Low-set, posteriorly rotated ears OMIM:265000 CHRNG 1146 HP:0001288 Gait disturbance OMIM:265000 CHRNG 1146 HP:0000252 Microcephaly OMIM:265000 CHRNG 1146 HP:0001159 Syndactyly OMIM:265000 CHRNG 1146 HP:0000369 Low-set ears OMIM:265000 CHRNG 1146 HP:0009775 Amniotic constriction ring OMIM:265000 CHRNG 1146 HP:0000007 Autosomal recessive inheritance OMIM:265000 CHRNG 1146 HP:0002808 Kyphosis OMIM:265000 CHRNG 1146 HP:0003202 Skeletal muscle atrophy OMIM:265000 CHRNG 1146 HP:0000324 Facial asymmetry OMIM:265000 CHRNG 1146 HP:0004459 Exostosis of the external auditory canal OMIM:265000 CHRNG 1146 HP:0001060 Axillary pterygia OMIM:265000 CHRNG 1146 HP:0001884 Talipes calcaneovalgus OMIM:265000 CHRNG 1146 HP:0000405 Conductive hearing impairment OMIM:265000 CHRNG 1146 HP:0001762 Talipes equinovarus OMIM:265000 CHRNG 1146 HP:0008729 Absence of labia majora OMIM:265000 CHRNG 1146 HP:0009110 Diaphragmatic eventration OMIM:265000 CHRNG 1146 HP:0000046 Scrotal hypoplasia OMIM:265000 CHRNG 1146 HP:0002643 Neonatal respiratory distress OMIM:265000 CHRNG 1146 HP:0001558 Decreased fetal movement OMIM:265000 CHRNG 1146 HP:0008736 Hypoplasia of penis OMIM:265000 CHRNG 1146 HP:0000175 Cleft palate OMIM:265000 CHRNG 1146 HP:0000464 Abnormality of the neck OMIM:265000 CHRNG 1146 HP:0000465 Webbed neck OMIM:265000 CHRNG 1146 HP:0000160 Narrow mouth OMIM:265000 CHRNG 1146 HP:0009761 Anterior clefting of vertebral bodies OMIM:265000 CHRNG 1146 HP:0003422 Vertebral segmentation defect OMIM:265000 CHRNG 1146 HP:0002949 Fused cervical vertebrae OMIM:265000 CHRNG 1146 HP:0003083 Dislocated radial head OMIM:265000 CHRNG 1146 HP:0000772 Abnormality of the ribs OMIM:265000 CHRNG 1146 HP:0002162 Low posterior hairline OMIM:240900 AKT2 208 HP:0000007 Autosomal recessive inheritance OMIM:240900 AKT2 208 HP:0001528 Hemihypertrophy OMIM:240900 AKT2 208 HP:0000006 Autosomal dominant inheritance OMIM:240900 AKT2 208 HP:0001250 Seizures OMIM:240900 AKT2 208 HP:0001520 Large for gestational age OMIM:240900 AKT2 208 HP:0001998 Neonatal hypoglycemia OMIM:240900 AKT2 208 HP:0001956 Truncal obesity OMIM:240900 AKT2 208 HP:0000771 Gynecomastia OMIM:300476 CACNA1F 778 HP:0000548 Cone-rod dystrophy OMIM:300476 CACNA1F 778 HP:0008323 Abnormal rod and cone electroretinograms OMIM:300476 CACNA1F 778 HP:0001419 X-linked recessive inheritance OMIM:300476 CACNA1F 778 HP:0000545 Myopia OMIM:300476 CACNA1F 778 HP:0000603 Central scotoma OMIM:300476 CACNA1F 778 HP:0000551 Abnormality of color vision OMIM:300476 CACNA1F 778 HP:0008002 Abnormality of macular pigmentation OMIM:300476 CACNA1F 778 HP:0000505 Visual impairment OMIM:615861 EMP2 2013 HP:0001004 Lymphedema OMIM:615861 EMP2 2013 HP:0012588 Steroid-resistant nephrotic syndrome OMIM:615861 EMP2 2013 HP:0000100 Nephrotic syndrome OMIM:614181 MAK 4117 HP:0000543 Optic disc pallor OMIM:614181 MAK 4117 HP:0000510 Retinitis pigmentosa OMIM:614181 MAK 4117 HP:0000662 Night blindness OMIM:614181 MAK 4117 HP:0000007 Autosomal recessive inheritance OMIM:609284 TPM3 7170 HP:0009053 Distal lower limb muscle weakness OMIM:609284 TPM3 7170 HP:0000467 Neck muscle weakness OMIM:609284 TPM3 7170 HP:0001349 Facial diplegia OMIM:609284 TPM3 7170 HP:0008944 Distal lower limb amyotrophy OMIM:609284 TPM3 7170 HP:0003458 EMG: myopathic abnormalities OMIM:609284 TPM3 7170 HP:0000275 Narrow face OMIM:609284 TPM3 7170 HP:0003621 Juvenile onset OMIM:609284 TPM3 7170 HP:0000006 Autosomal dominant inheritance OMIM:609284 TPM3 7170 HP:0000218 High palate OMIM:609284 TPM3 7170 HP:0003724 Shoulder girdle muscle atrophy OMIM:609284 TPM3 7170 HP:0003324 Generalized muscle weakness OMIM:609284 TPM3 7170 HP:0002650 Scoliosis OMIM:609284 TPM3 7170 HP:0001761 Pes cavus OMIM:609284 TPM3 7170 HP:0001270 Motor delay OMIM:609284 TPM3 7170 HP:0000276 Long face OMIM:609284 TPM3 7170 HP:0002093 Respiratory insufficiency OMIM:609284 TPM3 7170 HP:0000007 Autosomal recessive inheritance OMIM:609284 TPM3 7170 HP:0003701 Proximal muscle weakness OMIM:609284 TPM3 7170 HP:0001371 Flexion contracture OMIM:609284 TPM3 7170 HP:0000767 Pectus excavatum OMIM:609284 TPM3 7170 HP:0003798 Nemaline bodies OMIM:609284 TPM3 7170 HP:0002015 Dysphagia OMIM:601709 PLAU 5328 HP:0008148 Impaired epinephrine-induced platelet aggregation OMIM:601709 PLAU 5328 HP:0001873 Thrombocytopenia OMIM:601709 PLAU 5328 HP:0000978 Bruising susceptibility OMIM:601709 PLAU 5328 HP:0000132 Menorrhagia OMIM:601709 PLAU 5328 HP:0000006 Autosomal dominant inheritance OMIM:601709 PLAU 5328 HP:0005261 Joint hemorrhage OMIM:601709 PLAU 5328 HP:0000421 Epistaxis OMIM:271245 C10ORF2 56652 HP:0006957 Loss of ability to walk OMIM:271245 C10ORF2 56652 HP:0003676 Progressive disorder OMIM:271245 C10ORF2 56652 HP:0000365 Hearing impairment OMIM:271245 C10ORF2 56652 HP:0001328 Specific learning disability OMIM:271245 C10ORF2 56652 HP:0002120 Cerebral cortical atrophy OMIM:271245 C10ORF2 56652 HP:0000815 Hypergonadotropic hypogonadism OMIM:271245 C10ORF2 56652 HP:0003390 Sensory axonal neuropathy OMIM:271245 C10ORF2 56652 HP:0000648 Optic atrophy OMIM:271245 C10ORF2 56652 HP:0000639 Nystagmus OMIM:271245 C10ORF2 56652 HP:0100022 Abnormality of movement OMIM:271245 C10ORF2 56652 HP:0002312 Clumsiness OMIM:271245 C10ORF2 56652 HP:0000007 Autosomal recessive inheritance OMIM:271245 C10ORF2 56652 HP:0001272 Cerebellar atrophy OMIM:271245 C10ORF2 56652 HP:0200134 Epileptic encephalopathy OMIM:271245 C10ORF2 56652 HP:0012847 Epilepsia partialis continua OMIM:271245 C10ORF2 56652 HP:0000817 Poor eye contact OMIM:271245 C10ORF2 56652 HP:0002910 Elevated hepatic transaminases OMIM:271245 C10ORF2 56652 HP:0002311 Incoordination OMIM:271245 C10ORF2 56652 HP:0001262 Somnolence OMIM:271245 C10ORF2 56652 HP:0001324 Muscle weakness OMIM:271245 C10ORF2 56652 HP:0001252 Muscular hypotonia OMIM:271245 C10ORF2 56652 HP:0002076 Migraine OMIM:271245 C10ORF2 56652 HP:0000709 Psychosis OMIM:271245 C10ORF2 56652 HP:0002305 Athetosis OMIM:271245 C10ORF2 56652 HP:0000602 Ophthalmoplegia OMIM:271245 C10ORF2 56652 HP:0001284 Areflexia OMIM:271245 C10ORF2 56652 HP:0001249 Intellectual disability OMIM:271245 C10ORF2 56652 HP:0001251 Ataxia OMIM:271245 C10ORF2 56652 HP:0001315 Reduced tendon reflexes OMIM:271245 C10ORF2 56652 HP:0000597 Ophthalmoparesis OMIM:214300 MEOX1 4222 HP:0002650 Scoliosis OMIM:214300 MEOX1 4222 HP:0000204 Cleft upper lip OMIM:214300 MEOX1 4222 HP:0000912 Sprengel anomaly OMIM:214300 MEOX1 4222 HP:0000407 Sensorineural hearing impairment OMIM:214300 MEOX1 4222 HP:0000175 Cleft palate OMIM:214300 MEOX1 4222 HP:0002949 Fused cervical vertebrae OMIM:214300 MEOX1 4222 HP:0000405 Conductive hearing impairment OMIM:214300 MEOX1 4222 HP:0000470 Short neck OMIM:214300 MEOX1 4222 HP:0001629 Ventricular septal defect OMIM:214300 MEOX1 4222 HP:0000007 Autosomal recessive inheritance OMIM:214300 MEOX1 4222 HP:0000377 Abnormality of the pinna OMIM:214300 MEOX1 4222 HP:0002162 Low posterior hairline OMIM:214300 MEOX1 4222 HP:0004602 Cervical vertebral fusion (C2/C3) OMIM:214300 MEOX1 4222 HP:0000466 Limited neck range of motion OMIM:156530 TRPV4 59341 HP:0003336 Abnormal enchondral ossification OMIM:156530 TRPV4 59341 HP:0002650 Scoliosis OMIM:156530 TRPV4 59341 HP:0000368 Low-set, posteriorly rotated ears OMIM:156530 TRPV4 59341 HP:0000175 Cleft palate OMIM:156530 TRPV4 59341 HP:0002831 Long coccyx OMIM:156530 TRPV4 59341 HP:0003477 Peripheral axonal neuropathy OMIM:156530 TRPV4 59341 HP:0003510 Severe short stature OMIM:156530 TRPV4 59341 HP:0000926 Platyspondyly OMIM:156530 TRPV4 59341 HP:0100490 Camptodactyly of finger OMIM:156530 TRPV4 59341 HP:0001989 Fetal akinesia sequence OMIM:156530 TRPV4 59341 HP:0002656 Epiphyseal dysplasia OMIM:156530 TRPV4 59341 HP:0009381 Short finger OMIM:156530 TRPV4 59341 HP:0004348 Abnormality of bone mineral density OMIM:156530 TRPV4 59341 HP:0003103 Abnormal cortical bone morphology OMIM:156530 TRPV4 59341 HP:0002808 Kyphosis OMIM:156530 TRPV4 59341 HP:0003562 Abnormal metaphyseal vascular invasion OMIM:156530 TRPV4 59341 HP:0002810 Dumbbell-shaped metaphyses OMIM:156530 TRPV4 59341 HP:0100670 Rough bone trabeculation OMIM:156530 TRPV4 59341 HP:0001156 Brachydactyly syndrome OMIM:156530 TRPV4 59341 HP:0000774 Narrow chest OMIM:156530 TRPV4 59341 HP:0002834 Flared femoral metaphysis OMIM:156530 TRPV4 59341 HP:0003332 Absent primary metaphyseal spongiosa OMIM:156530 TRPV4 59341 HP:0001376 Limitation of joint mobility OMIM:156530 TRPV4 59341 HP:0005108 Abnormality of the intervertebral disk OMIM:156530 TRPV4 59341 HP:0002826 Halberd-shaped pelvis bone {xref="HPO:skoehler"} OMIM:156530 TRPV4 59341 HP:0003911 Flared humeral metaphysis OMIM:156530 TRPV4 59341 HP:0005280 Depressed nasal bridge OMIM:156530 TRPV4 59341 HP:0000006 Autosomal dominant inheritance OMIM:156530 TRPV4 59341 HP:0000238 Hydrocephalus OMIM:156530 TRPV4 59341 HP:0002766 Relatively short spine OMIM:156530 TRPV4 59341 HP:0004209 Clinodactyly of the 5th finger OMIM:156530 TRPV4 59341 HP:0100818 Long thorax OMIM:156530 TRPV4 59341 HP:0000348 High forehead OMIM:156530 TRPV4 59341 HP:0000772 Abnormality of the ribs OMIM:156530 TRPV4 59341 HP:0002878 Respiratory failure OMIM:156530 TRPV4 59341 HP:0002822 Hyperplasia of the femoral trochanters OMIM:156530 TRPV4 59341 HP:0002879 Anisospondyly OMIM:156530 TRPV4 59341 HP:0002825 Caudal appendage OMIM:156530 TRPV4 59341 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:156530 TRPV4 59341 HP:0000518 Cataract OMIM:156530 TRPV4 59341 HP:0002983 Micromelia ORPHANET:281127 TGM1 7051 HP:0008064 Ichthyosis OMIM:615879 DNMT3A 1788 HP:0001250 Seizures OMIM:615879 DNMT3A 1788 HP:0001537 Umbilical hernia OMIM:615879 DNMT3A 1788 HP:0001631 Defect in the atrial septum OMIM:615879 DNMT3A 1788 HP:0002650 Scoliosis OMIM:615879 DNMT3A 1788 HP:0000311 Round face OMIM:615879 DNMT3A 1788 HP:0000581 Blepharophimosis OMIM:217090 PLG 5340 HP:0000478 Abnormality of the eye OMIM:217090 PLG 5340 HP:0002242 Abnormality of the intestine OMIM:217090 PLG 5340 HP:0000007 Autosomal recessive inheritance OMIM:217090 PLG 5340 HP:0000704 Periodontitis OMIM:217090 PLG 5340 HP:0001305 Dandy-Walker malformation OMIM:217090 PLG 5340 HP:0000370 Abnormality of the middle ear OMIM:217090 PLG 5340 HP:0001600 Abnormality of the larynx OMIM:217090 PLG 5340 HP:0000238 Hydrocephalus OMIM:217090 PLG 5340 HP:0003593 Infantile onset OMIM:217090 PLG 5340 HP:0001321 Cerebellar hypoplasia OMIM:217090 PLG 5340 HP:0001939 Abnormality of metabolism/homeostasis OMIM:217090 PLG 5340 HP:0000787 Nephrolithiasis OMIM:217090 PLG 5340 HP:0000230 Gingivitis OMIM:217090 PLG 5340 HP:0000163 Abnormality of the oral cavity OMIM:217090 PLG 5340 HP:0001626 Abnormality of the cardiovascular system OMIM:217090 PLG 5340 HP:0002086 Abnormality of the respiratory system OMIM:217090 PLG 5340 HP:0000509 Conjunctivitis OMIM:217090 PLG 5340 HP:0000618 Blindness OMIM:217090 PLG 5340 HP:0000212 Gingival overgrowth OMIM:217090 PLG 5340 HP:0000123 Nephritis OMIM:217090 PLG 5340 HP:0000147 Polycystic ovaries OMIM:217090 PLG 5340 HP:0002588 Duodenal ulcer OMIM:217090 PLG 5340 HP:0000256 Macrocephaly OMIM:217090 PLG 5340 HP:0000598 Abnormality of the ear OMIM:217090 PLG 5340 HP:0002788 Recurrent upper respiratory tract infections OMIM:217090 PLG 5340 HP:0000951 Abnormality of the skin ORPHANET:52429 SIX1 6495 HP:0008572 External ear malformation ORPHANET:52429 SIX1 6495 HP:0000324 Facial asymmetry ORPHANET:52429 SIX1 6495 HP:0009795 Branchial fistula ORPHANET:52429 SIX1 6495 HP:0010767 Sacrococcygeal pilonidal abnormality ORPHANET:52429 SIX1 6495 HP:0000384 Preauricular skin tag ORPHANET:52429 SIX1 6495 HP:0100267 Lip pit ORPHANET:52429 SIX1 6495 HP:0000407 Sensorineural hearing impairment ORPHANET:52429 SIX1 6495 HP:0000175 Cleft palate ORPHANET:52429 SIX1 6495 HP:0000632 Lacrimation abnormality ORPHANET:52429 SIX1 6495 HP:0000413 Atresia of the external auditory canal ORPHANET:52429 SIX1 6495 HP:0000405 Conductive hearing impairment ORPHANET:52429 SIX1 6495 HP:0000347 Micrognathia ORPHANET:52429 SIX1 6495 HP:0010628 Facial palsy ORPHANET:52429 EYA1 2138 HP:0008572 External ear malformation ORPHANET:52429 EYA1 2138 HP:0000324 Facial asymmetry ORPHANET:52429 EYA1 2138 HP:0009795 Branchial fistula ORPHANET:52429 EYA1 2138 HP:0010767 Sacrococcygeal pilonidal abnormality ORPHANET:52429 EYA1 2138 HP:0000384 Preauricular skin tag ORPHANET:52429 EYA1 2138 HP:0100267 Lip pit ORPHANET:52429 EYA1 2138 HP:0000407 Sensorineural hearing impairment ORPHANET:52429 EYA1 2138 HP:0000175 Cleft palate ORPHANET:52429 EYA1 2138 HP:0000632 Lacrimation abnormality ORPHANET:52429 EYA1 2138 HP:0000413 Atresia of the external auditory canal ORPHANET:52429 EYA1 2138 HP:0000405 Conductive hearing impairment ORPHANET:52429 EYA1 2138 HP:0000347 Micrognathia ORPHANET:52429 EYA1 2138 HP:0010628 Facial palsy OMIM:615274 MIP 4284 HP:0000518 Cataract OMIM:615274 MIP 4284 HP:0000006 Autosomal dominant inheritance OMIM:609140 COL8A2 1296 HP:0000006 Autosomal dominant inheritance OMIM:609140 COL8A2 1296 HP:0001131 Corneal dystrophy OMIM:609140 COL8A2 1296 HP:0007957 Corneal opacity OMIM:612269 GABRB3 2562 HP:0002121 Absence seizures OMIM:612269 GABRB3 2562 HP:0000006 Autosomal dominant inheritance ORPHANET:667 TNFSF11 8600 HP:0002653 Bone pain ORPHANET:667 TNFSF11 8600 HP:0002092 Pulmonary hypertension ORPHANET:667 TNFSF11 8600 HP:0006323 Premature loss of primary teeth ORPHANET:667 TNFSF11 8600 HP:0005930 Abnormality of epiphysis morphology ORPHANET:667 TNFSF11 8600 HP:0000505 Visual impairment ORPHANET:667 TNFSF11 8600 HP:0002104 Apnea ORPHANET:667 TNFSF11 8600 HP:0000639 Nystagmus ORPHANET:667 TNFSF11 8600 HP:0001363 Craniosynostosis ORPHANET:667 TNFSF11 8600 HP:0100543 Cognitive impairment ORPHANET:667 TNFSF11 8600 HP:0002205 Recurrent respiratory infections ORPHANET:667 TNFSF11 8600 HP:0003202 Skeletal muscle atrophy ORPHANET:667 TNFSF11 8600 HP:0010719 Abnormality of hair texture ORPHANET:667 TNFSF11 8600 HP:0006824 Cranial nerve paralysis ORPHANET:667 TNFSF11 8600 HP:0011001 Increased bone mineral density ORPHANET:667 TNFSF11 8600 HP:0002757 Recurrent fractures ORPHANET:667 TNFSF11 8600 HP:0000772 Abnormality of the ribs ORPHANET:667 TNFSF11 8600 HP:0000256 Macrocephaly ORPHANET:667 TNFSF11 8600 HP:0000238 Hydrocephalus ORPHANET:667 TNFSF11 8600 HP:0000365 Hearing impairment ORPHANET:667 TNFSF11 8600 HP:0000980 Pallor ORPHANET:667 TNFSF11 8600 HP:0001744 Splenomegaly ORPHANET:667 TNFSF11 8600 HP:0004349 Reduced bone mineral density ORPHANET:667 TNFSF11 8600 HP:0006487 Bowing of the long bones ORPHANET:667 TNFSF11 8600 HP:0002148 Hypophosphatemia ORPHANET:667 TNFSF11 8600 HP:0000944 Abnormality of the metaphyses ORPHANET:667 TNFSF11 8600 HP:0002716 Lymphadenopathy ORPHANET:667 TNFSF11 8600 HP:0001903 Anemia ORPHANET:667 TNFSF11 8600 HP:0004370 Abnormality of temperature regulation ORPHANET:667 TNFSF11 8600 HP:0001928 Abnormality of coagulation ORPHANET:667 TNFSF11 8600 HP:0000684 Delayed eruption of teeth ORPHANET:667 TNFSF11 8600 HP:0001337 Tremor ORPHANET:667 TNFSF11 8600 HP:0000978 Bruising susceptibility ORPHANET:667 TNFSF11 8600 HP:0000649 Abnormality of vision evoked potentials ORPHANET:667 TNFSF11 8600 HP:0002901 Hypocalcemia ORPHANET:667 TNFSF11 8600 HP:0002240 Hepatomegaly ORPHANET:667 TNFSF11 8600 HP:0000774 Narrow chest ORPHANET:667 TNFSF11 8600 HP:0000648 Optic atrophy ORPHANET:667 TNFSF11 8600 HP:0000246 Sinusitis ORPHANET:667 TNFSF11 8600 HP:0001641 Abnormality of the pulmonary valve ORPHANET:667 CLCN7 1186 HP:0002653 Bone pain ORPHANET:667 CLCN7 1186 HP:0002092 Pulmonary hypertension ORPHANET:667 CLCN7 1186 HP:0006323 Premature loss of primary teeth ORPHANET:667 CLCN7 1186 HP:0005930 Abnormality of epiphysis morphology ORPHANET:667 CLCN7 1186 HP:0000505 Visual impairment ORPHANET:667 CLCN7 1186 HP:0002104 Apnea ORPHANET:667 CLCN7 1186 HP:0000639 Nystagmus ORPHANET:667 CLCN7 1186 HP:0001363 Craniosynostosis ORPHANET:667 CLCN7 1186 HP:0100543 Cognitive impairment ORPHANET:667 CLCN7 1186 HP:0002205 Recurrent respiratory infections ORPHANET:667 CLCN7 1186 HP:0003202 Skeletal muscle atrophy ORPHANET:667 CLCN7 1186 HP:0010719 Abnormality of hair texture ORPHANET:667 CLCN7 1186 HP:0006824 Cranial nerve paralysis ORPHANET:667 CLCN7 1186 HP:0011001 Increased bone mineral density ORPHANET:667 CLCN7 1186 HP:0002757 Recurrent fractures ORPHANET:667 CLCN7 1186 HP:0000772 Abnormality of the ribs ORPHANET:667 CLCN7 1186 HP:0000256 Macrocephaly ORPHANET:667 CLCN7 1186 HP:0000238 Hydrocephalus ORPHANET:667 CLCN7 1186 HP:0000365 Hearing impairment ORPHANET:667 CLCN7 1186 HP:0000980 Pallor ORPHANET:667 CLCN7 1186 HP:0001744 Splenomegaly ORPHANET:667 CLCN7 1186 HP:0004349 Reduced bone mineral density ORPHANET:667 CLCN7 1186 HP:0006487 Bowing of the long bones ORPHANET:667 CLCN7 1186 HP:0002148 Hypophosphatemia ORPHANET:667 CLCN7 1186 HP:0000944 Abnormality of the metaphyses ORPHANET:667 CLCN7 1186 HP:0002716 Lymphadenopathy ORPHANET:667 CLCN7 1186 HP:0001903 Anemia ORPHANET:667 CLCN7 1186 HP:0004370 Abnormality of temperature regulation ORPHANET:667 CLCN7 1186 HP:0001928 Abnormality of coagulation ORPHANET:667 CLCN7 1186 HP:0000684 Delayed eruption of teeth ORPHANET:667 CLCN7 1186 HP:0001337 Tremor ORPHANET:667 CLCN7 1186 HP:0000978 Bruising susceptibility ORPHANET:667 CLCN7 1186 HP:0000649 Abnormality of vision evoked potentials ORPHANET:667 CLCN7 1186 HP:0002901 Hypocalcemia ORPHANET:667 CLCN7 1186 HP:0002240 Hepatomegaly ORPHANET:667 CLCN7 1186 HP:0000774 Narrow chest ORPHANET:667 CLCN7 1186 HP:0000648 Optic atrophy ORPHANET:667 CLCN7 1186 HP:0000246 Sinusitis ORPHANET:667 CLCN7 1186 HP:0001641 Abnormality of the pulmonary valve ORPHANET:667 SNX10 29887 HP:0002653 Bone pain ORPHANET:667 SNX10 29887 HP:0002092 Pulmonary hypertension ORPHANET:667 SNX10 29887 HP:0006323 Premature loss of primary teeth ORPHANET:667 SNX10 29887 HP:0005930 Abnormality of epiphysis morphology ORPHANET:667 SNX10 29887 HP:0000505 Visual impairment ORPHANET:667 SNX10 29887 HP:0002104 Apnea ORPHANET:667 SNX10 29887 HP:0000639 Nystagmus ORPHANET:667 SNX10 29887 HP:0001363 Craniosynostosis ORPHANET:667 SNX10 29887 HP:0100543 Cognitive impairment ORPHANET:667 SNX10 29887 HP:0002205 Recurrent respiratory infections ORPHANET:667 SNX10 29887 HP:0003202 Skeletal muscle atrophy ORPHANET:667 SNX10 29887 HP:0010719 Abnormality of hair texture ORPHANET:667 SNX10 29887 HP:0006824 Cranial nerve paralysis ORPHANET:667 SNX10 29887 HP:0011001 Increased bone mineral density ORPHANET:667 SNX10 29887 HP:0002757 Recurrent fractures ORPHANET:667 SNX10 29887 HP:0000772 Abnormality of the ribs ORPHANET:667 SNX10 29887 HP:0000256 Macrocephaly ORPHANET:667 SNX10 29887 HP:0000238 Hydrocephalus ORPHANET:667 SNX10 29887 HP:0000365 Hearing impairment ORPHANET:667 SNX10 29887 HP:0000980 Pallor ORPHANET:667 SNX10 29887 HP:0001744 Splenomegaly ORPHANET:667 SNX10 29887 HP:0004349 Reduced bone mineral density ORPHANET:667 SNX10 29887 HP:0006487 Bowing of the long bones ORPHANET:667 SNX10 29887 HP:0002148 Hypophosphatemia ORPHANET:667 SNX10 29887 HP:0000944 Abnormality of the metaphyses ORPHANET:667 SNX10 29887 HP:0002716 Lymphadenopathy ORPHANET:667 SNX10 29887 HP:0001903 Anemia ORPHANET:667 SNX10 29887 HP:0004370 Abnormality of temperature regulation ORPHANET:667 SNX10 29887 HP:0001928 Abnormality of coagulation ORPHANET:667 SNX10 29887 HP:0000684 Delayed eruption of teeth ORPHANET:667 SNX10 29887 HP:0001337 Tremor ORPHANET:667 SNX10 29887 HP:0000978 Bruising susceptibility ORPHANET:667 SNX10 29887 HP:0000649 Abnormality of vision evoked potentials ORPHANET:667 SNX10 29887 HP:0002901 Hypocalcemia ORPHANET:667 SNX10 29887 HP:0002240 Hepatomegaly ORPHANET:667 SNX10 29887 HP:0000774 Narrow chest ORPHANET:667 SNX10 29887 HP:0000648 Optic atrophy ORPHANET:667 SNX10 29887 HP:0000246 Sinusitis ORPHANET:667 SNX10 29887 HP:0001641 Abnormality of the pulmonary valve ORPHANET:667 TCIRG1 10312 HP:0002653 Bone pain ORPHANET:667 TCIRG1 10312 HP:0002092 Pulmonary hypertension ORPHANET:667 TCIRG1 10312 HP:0006323 Premature loss of primary teeth ORPHANET:667 TCIRG1 10312 HP:0005930 Abnormality of epiphysis morphology ORPHANET:667 TCIRG1 10312 HP:0000505 Visual impairment ORPHANET:667 TCIRG1 10312 HP:0002104 Apnea ORPHANET:667 TCIRG1 10312 HP:0000639 Nystagmus ORPHANET:667 TCIRG1 10312 HP:0001363 Craniosynostosis ORPHANET:667 TCIRG1 10312 HP:0100543 Cognitive impairment ORPHANET:667 TCIRG1 10312 HP:0002205 Recurrent respiratory infections ORPHANET:667 TCIRG1 10312 HP:0003202 Skeletal muscle atrophy ORPHANET:667 TCIRG1 10312 HP:0010719 Abnormality of hair texture ORPHANET:667 TCIRG1 10312 HP:0006824 Cranial nerve paralysis ORPHANET:667 TCIRG1 10312 HP:0011001 Increased bone mineral density ORPHANET:667 TCIRG1 10312 HP:0002757 Recurrent fractures ORPHANET:667 TCIRG1 10312 HP:0000772 Abnormality of the ribs ORPHANET:667 TCIRG1 10312 HP:0000256 Macrocephaly ORPHANET:667 TCIRG1 10312 HP:0000238 Hydrocephalus ORPHANET:667 TCIRG1 10312 HP:0000365 Hearing impairment ORPHANET:667 TCIRG1 10312 HP:0000980 Pallor ORPHANET:667 TCIRG1 10312 HP:0001744 Splenomegaly ORPHANET:667 TCIRG1 10312 HP:0004349 Reduced bone mineral density ORPHANET:667 TCIRG1 10312 HP:0006487 Bowing of the long bones ORPHANET:667 TCIRG1 10312 HP:0002148 Hypophosphatemia ORPHANET:667 TCIRG1 10312 HP:0000944 Abnormality of the metaphyses ORPHANET:667 TCIRG1 10312 HP:0002716 Lymphadenopathy ORPHANET:667 TCIRG1 10312 HP:0001903 Anemia ORPHANET:667 TCIRG1 10312 HP:0004370 Abnormality of temperature regulation ORPHANET:667 TCIRG1 10312 HP:0001928 Abnormality of coagulation ORPHANET:667 TCIRG1 10312 HP:0000684 Delayed eruption of teeth ORPHANET:667 TCIRG1 10312 HP:0001337 Tremor ORPHANET:667 TCIRG1 10312 HP:0000978 Bruising susceptibility ORPHANET:667 TCIRG1 10312 HP:0000649 Abnormality of vision evoked potentials ORPHANET:667 TCIRG1 10312 HP:0002901 Hypocalcemia ORPHANET:667 TCIRG1 10312 HP:0002240 Hepatomegaly ORPHANET:667 TCIRG1 10312 HP:0000774 Narrow chest ORPHANET:667 TCIRG1 10312 HP:0000648 Optic atrophy ORPHANET:667 TCIRG1 10312 HP:0000246 Sinusitis ORPHANET:667 TCIRG1 10312 HP:0001641 Abnormality of the pulmonary valve OMIM:611875 CACNA1C 775 HP:0004308 Ventricular arrhythmia OMIM:611875 CACNA1C 775 HP:0000006 Autosomal dominant inheritance OMIM:611875 CACNA1C 775 HP:0012272 J wave OMIM:611875 CACNA1C 775 HP:0012232 Shortened QT interval OMIM:611875 CACNA1C 775 HP:0001279 Syncope OMIM:611875 CACNA1C 775 HP:0001645 Sudden cardiac death OMIM:611875 CACNA1C 775 HP:0005110 Atrial fibrillation OMIM:614385 MLH3 27030 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:614385 MLH3 27030 HP:0000006 Autosomal dominant inheritance OMIM:613118 SERPINC1 462 HP:0005305 Cerebral venous thrombosis OMIM:613118 SERPINC1 462 HP:0002625 Deep venous thrombosis OMIM:613118 SERPINC1 462 HP:0000006 Autosomal dominant inheritance OMIM:613118 SERPINC1 462 HP:0001976 Reduced antithrombin III activity OMIM:613118 SERPINC1 462 HP:0002204 Pulmonary embolism OMIM:613118 SERPINC1 462 HP:0000007 Autosomal recessive inheritance OMIM:160150 DNM2 1785 HP:0010628 Facial palsy OMIM:160150 DNM2 1785 HP:0003712 Skeletal muscle hypertrophy OMIM:160150 DNM2 1785 HP:0000006 Autosomal dominant inheritance OMIM:160150 DNM2 1785 HP:0000544 External ophthalmoplegia OMIM:160150 DNM2 1785 HP:0005335 Sleepy facial expression OMIM:160150 DNM2 1785 HP:0003701 Proximal muscle weakness OMIM:160150 DNM2 1785 HP:0000508 Ptosis OMIM:160150 DNM2 1785 HP:0003388 Easy fatigability OMIM:160150 DNM2 1785 HP:0001270 Motor delay OMIM:160150 DNM2 1785 HP:0001371 Flexion contracture OMIM:160150 DNM2 1785 HP:0003677 Slow progression OMIM:160150 DNM2 1785 HP:0003687 Centrally nucleated skeletal muscle fibers OMIM:160150 DNM2 1785 HP:0001284 Areflexia OMIM:613211 WDR72 256764 HP:0000705 Amelogenesis imperfecta OMIM:613211 WDR72 256764 HP:0000007 Autosomal recessive inheritance OMIM:613211 WDR72 256764 HP:0011085 Hypomature dental enamel OMIM:612713 SRD5A3 79644 HP:0000518 Cataract OMIM:612713 SRD5A3 79644 HP:0002987 Elbow flexion contracture OMIM:612713 SRD5A3 79644 HP:0006380 Knee flexion contracture OMIM:612713 SRD5A3 79644 HP:0000179 Thick lower lip vermilion OMIM:612713 SRD5A3 79644 HP:0005306 Capillary hemangiomas OMIM:612713 SRD5A3 79644 HP:0000612 Iris coloboma OMIM:612713 SRD5A3 79644 HP:0000431 Wide nasal bridge OMIM:612713 SRD5A3 79644 HP:0000414 Bulbous nose OMIM:612713 SRD5A3 79644 HP:0000007 Autosomal recessive inheritance OMIM:612713 SRD5A3 79644 HP:0001270 Motor delay OMIM:612713 SRD5A3 79644 HP:0002942 Thoracic kyphosis OMIM:612713 SRD5A3 79644 HP:0010864 Intellectual disability, severe OMIM:612713 SRD5A3 79644 HP:0006887 Intellectual disability, progressive OMIM:608393 CENPJ 55835 HP:0000252 Microcephaly OMIM:608393 CENPJ 55835 HP:0001425 Heterogeneous OMIM:608393 CENPJ 55835 HP:0002472 Small cerebral cortex OMIM:608393 CENPJ 55835 HP:0000007 Autosomal recessive inheritance OMIM:608393 CENPJ 55835 HP:0002342 Intellectual disability, moderate OMIM:608393 CENPJ 55835 HP:0003577 Congenital onset OMIM:610444 GNAT1 2779 HP:0007642 Congenital stationary night blindness OMIM:610444 GNAT1 2779 HP:0000006 Autosomal dominant inheritance OMIM:606392 PDX1 3651 HP:0005978 Type II diabetes mellitus OMIM:606392 PDX1 3651 HP:0004904 Maturity-onset diabetes of the young OMIM:606392 PDX1 3651 HP:0000006 Autosomal dominant inheritance OMIM:600143 CLN8 2055 HP:0002376 Developmental regression OMIM:600143 CLN8 2055 HP:0001250 Seizures OMIM:600143 CLN8 2055 HP:0000007 Autosomal recessive inheritance OMIM:600143 CLN8 2055 HP:0000750 Delayed speech and language development OMIM:600143 CLN8 2055 HP:0002074 Increased neuronal autofluorescent lipopigment OMIM:600143 CLN8 2055 HP:0001336 Myoclonus OMIM:600143 CLN8 2055 HP:0003205 Curvilinear intracellular accumulation of autofluorescent lipopigment storage material OMIM:600143 CLN8 2055 HP:0002353 EEG abnormality OMIM:600143 CLN8 2055 HP:0000529 Progressive visual loss OMIM:600143 CLN8 2055 HP:0001251 Ataxia OMIM:600143 CLN8 2055 HP:0002059 Cerebral atrophy OMIM:600143 CLN8 2055 HP:0001272 Cerebellar atrophy OMIM:182920 MYOT 9499 HP:0000006 Autosomal dominant inheritance OMIM:182920 MYOT 9499 HP:0003438 Absent Achilles reflex OMIM:182920 MYOT 9499 HP:0003722 Neck flexor weakness OMIM:182920 MYOT 9499 HP:0003202 Skeletal muscle atrophy OMIM:182920 MYOT 9499 HP:0001611 Nasal speech OMIM:182920 MYOT 9499 HP:0003236 Elevated serum creatine phosphokinase OMIM:182920 MYOT 9499 HP:0002515 Waddling gait OMIM:182920 MYOT 9499 HP:0002015 Dysphagia OMIM:182920 MYOT 9499 HP:0003674 Onset OMIM:182920 MYOT 9499 HP:0003198 Myopathy OMIM:182920 MYOT 9499 HP:0002136 Broad-based gait OMIM:182920 MYOT 9499 HP:0003828 Variable expressivity OMIM:182920 MYOT 9499 HP:0003677 Slow progression OMIM:615376 PLEKHG5 57449 HP:0002936 Distal sensory impairment OMIM:615376 PLEKHG5 57449 HP:0000007 Autosomal recessive inheritance OMIM:615376 PLEKHG5 57449 HP:0008180 Mildly elevated creatine phosphokinase OMIM:615376 PLEKHG5 57449 HP:0001765 Hammertoe OMIM:615376 PLEKHG5 57449 HP:0001284 Areflexia OMIM:615376 PLEKHG5 57449 HP:0002460 Distal muscle weakness OMIM:615376 PLEKHG5 57449 HP:0001761 Pes cavus OMIM:615376 PLEKHG5 57449 HP:0003387 Decreased number of large peripheral myelinated nerve fibers OMIM:602849 FGFR3 2261 HP:0000316 Hypertelorism OMIM:602849 FGFR3 2261 HP:0001241 Capitate-hamate fusion OMIM:602849 FGFR3 2261 HP:0000256 Macrocephaly OMIM:602849 FGFR3 2261 HP:0000174 Abnormality of the palate OMIM:602849 FGFR3 2261 HP:0011800 Midface retrusion OMIM:602849 FGFR3 2261 HP:0001357 Plagiocephaly OMIM:602849 FGFR3 2261 HP:0000272 Malar flattening OMIM:602849 FGFR3 2261 HP:0030084 Clinodactyly OMIM:602849 FGFR3 2261 HP:0000520 Proptosis OMIM:602849 FGFR3 2261 HP:0001831 Short toe OMIM:602849 FGFR3 2261 HP:0000248 Brachycephaly OMIM:602849 FGFR3 2261 HP:0100543 Cognitive impairment OMIM:602849 FGFR3 2261 HP:0005819 Short middle phalanx of finger OMIM:602849 FGFR3 2261 HP:0010579 Cone-shaped epiphysis OMIM:602849 FGFR3 2261 HP:0004440 Coronal craniosynostosis OMIM:602849 FGFR3 2261 HP:0000238 Hydrocephalus OMIM:602849 FGFR3 2261 HP:0003795 Short middle phalanx of toe OMIM:602849 FGFR3 2261 HP:0002516 Increased intracranial pressure OMIM:602849 FGFR3 2261 HP:0000407 Sensorineural hearing impairment OMIM:602849 FGFR3 2261 HP:0000508 Ptosis OMIM:602849 FGFR3 2261 HP:0000294 Low anterior hairline OMIM:602849 FGFR3 2261 HP:0005048 Synostosis of carpal bones OMIM:602849 FGFR3 2261 HP:0009466 Radial deviation of finger OMIM:602849 FGFR3 2261 HP:0001263 Global developmental delay OMIM:602849 FGFR3 2261 HP:0000006 Autosomal dominant inheritance OMIM:602849 FGFR3 2261 HP:0010230 Cone-shaped epiphyses of the phalanges of the hand OMIM:602849 FGFR3 2261 HP:0008368 Tarsal synostosis OMIM:602849 FGFR3 2261 HP:0001249 Intellectual disability OMIM:602849 FGFR3 2261 HP:0010055 Broad hallux OMIM:602849 FGFR3 2261 HP:0001156 Brachydactyly syndrome OMIM:602849 FGFR3 2261 HP:0006193 Thimble-shaped middle phalanges of hand OMIM:602849 FGFR3 2261 HP:0000218 High palate OMIM:602849 FGFR3 2261 HP:0000494 Downslanted palpebral fissures OMIM:311900 RBM10 8241 HP:0001321 Cerebellar hypoplasia OMIM:311900 RBM10 8241 HP:0000218 High palate OMIM:311900 RBM10 8241 HP:0001417 X-linked inheritance OMIM:311900 RBM10 8241 HP:0000239 Large fontanelles OMIM:311900 RBM10 8241 HP:0000431 Wide nasal bridge OMIM:311900 RBM10 8241 HP:0000085 Horseshoe kidney OMIM:311900 RBM10 8241 HP:0000162 Glossoptosis OMIM:311900 RBM10 8241 HP:0100026 Arteriovenous malformation OMIM:311900 RBM10 8241 HP:0009891 Underdeveloped supraorbital ridges OMIM:311900 RBM10 8241 HP:0001273 Abnormality of the corpus callosum OMIM:311900 RBM10 8241 HP:0000028 Cryptorchidism OMIM:311900 RBM10 8241 HP:0100259 Postaxial polydactyly OMIM:311900 RBM10 8241 HP:0002984 Hypoplasia of the radius OMIM:311900 RBM10 8241 HP:0001511 Intrauterine growth retardation OMIM:311900 RBM10 8241 HP:0000879 Short sternum OMIM:311900 RBM10 8241 HP:0006191 Deep palmar crease OMIM:311900 RBM10 8241 HP:0000175 Cleft palate OMIM:311900 RBM10 8241 HP:0000126 Hydronephrosis OMIM:311900 RBM10 8241 HP:0012725 Cutaneous syndactyly OMIM:311900 RBM10 8241 HP:0000954 Single transverse palmar crease OMIM:311900 RBM10 8241 HP:0008551 Microtia OMIM:311900 RBM10 8241 HP:0000199 Tongue nodules OMIM:311900 RBM10 8241 HP:0001252 Muscular hypotonia OMIM:311900 RBM10 8241 HP:0012745 Short palpebral fissure OMIM:311900 RBM10 8241 HP:0000395 Prominent antihelix OMIM:311900 RBM10 8241 HP:0030084 Clinodactyly OMIM:311900 RBM10 8241 HP:0001508 Failure to thrive OMIM:311900 RBM10 8241 HP:0001263 Global developmental delay OMIM:311900 RBM10 8241 HP:0000347 Micrognathia OMIM:311900 RBM10 8241 HP:0000369 Low-set ears OMIM:311900 RBM10 8241 HP:0001636 Tetralogy of Fallot OMIM:311900 RBM10 8241 HP:0000463 Anteverted nares OMIM:311900 RBM10 8241 HP:0001320 Cerebellar vermis hypoplasia OMIM:311900 RBM10 8241 HP:0001762 Talipes equinovarus OMIM:311900 RBM10 8241 HP:0001631 Defect in the atrial septum OMIM:311900 RBM10 8241 HP:0000648 Optic atrophy OMIM:311900 RBM10 8241 HP:0000358 Posteriorly rotated ears OMIM:311900 RBM10 8241 HP:0000368 Low-set, posteriorly rotated ears OMIM:308205 MBTPS2 51360 HP:0001562 Oligohydramnios OMIM:308205 MBTPS2 51360 HP:0001162 Postaxial hand polydactyly OMIM:308205 MBTPS2 51360 HP:0000561 Absent eyelashes OMIM:308205 MBTPS2 51360 HP:0000966 Hypohidrosis OMIM:308205 MBTPS2 51360 HP:0002223 Absent eyebrow OMIM:308205 MBTPS2 51360 HP:0000545 Myopia OMIM:308205 MBTPS2 51360 HP:0000252 Microcephaly OMIM:308205 MBTPS2 51360 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:308205 MBTPS2 51360 HP:0005254 Unilateral chest hypoplasia OMIM:308205 MBTPS2 51360 HP:0000613 Photophobia OMIM:308205 MBTPS2 51360 HP:0000028 Cryptorchidism OMIM:308205 MBTPS2 51360 HP:0012444 Brain atrophy OMIM:308205 MBTPS2 51360 HP:0001025 Urticaria OMIM:308205 MBTPS2 51360 HP:0000639 Nystagmus OMIM:308205 MBTPS2 51360 HP:0000238 Hydrocephalus OMIM:308205 MBTPS2 51360 HP:0001511 Intrauterine growth retardation OMIM:308205 MBTPS2 51360 HP:0100543 Cognitive impairment OMIM:308205 MBTPS2 51360 HP:0000365 Hearing impairment OMIM:308205 MBTPS2 51360 HP:0002079 Hypoplasia of the corpus callosum OMIM:308205 MBTPS2 51360 HP:0000483 Astigmatism OMIM:308205 MBTPS2 51360 HP:0000368 Low-set, posteriorly rotated ears OMIM:308205 MBTPS2 51360 HP:0001596 Alopecia OMIM:308205 MBTPS2 51360 HP:0000076 Vesicoureteral reflux OMIM:308205 MBTPS2 51360 HP:0001263 Global developmental delay OMIM:308205 MBTPS2 51360 HP:0001419 X-linked recessive inheritance OMIM:308205 MBTPS2 51360 HP:0000122 Unilateral renal agenesis OMIM:308205 MBTPS2 51360 HP:0002007 Frontal bossing OMIM:308205 MBTPS2 51360 HP:0002120 Cerebral cortical atrophy OMIM:308205 MBTPS2 51360 HP:0001231 Abnormality of the fingernails OMIM:308205 MBTPS2 51360 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:308205 MBTPS2 51360 HP:0000926 Platyspondyly OMIM:308205 MBTPS2 51360 HP:0001249 Intellectual disability OMIM:308205 MBTPS2 51360 HP:0002750 Delayed skeletal maturation OMIM:308205 MBTPS2 51360 HP:0000772 Abnormality of the ribs OMIM:308205 MBTPS2 51360 HP:0002251 Aganglionic megacolon OMIM:308205 MBTPS2 51360 HP:0002376 Developmental regression OMIM:308205 MBTPS2 51360 HP:0003468 Abnormality of the vertebrae OMIM:308205 MBTPS2 51360 HP:0000958 Dry skin OMIM:308205 MBTPS2 51360 HP:0007502 Follicular hyperkeratosis OMIM:308205 MBTPS2 51360 HP:0001252 Muscular hypotonia OMIM:308205 MBTPS2 51360 HP:0000968 Ectodermal dysplasia OMIM:308205 MBTPS2 51360 HP:0008064 Ichthyosis OMIM:308205 MBTPS2 51360 HP:0002119 Ventriculomegaly OMIM:308205 MBTPS2 51360 HP:0000518 Cataract OMIM:308205 MBTPS2 51360 HP:0000444 Convex nasal ridge OMIM:308205 MBTPS2 51360 HP:0004322 Short stature OMIM:308205 MBTPS2 51360 HP:0003577 Congenital onset OMIM:308205 MBTPS2 51360 HP:0002542 Olivopontocerebellar atrophy OMIM:308205 MBTPS2 51360 HP:0000023 Inguinal hernia OMIM:308205 MBTPS2 51360 HP:0100825 Cheilitis OMIM:308205 MBTPS2 51360 HP:0001357 Plagiocephaly OMIM:308205 MBTPS2 51360 HP:0007759 Opacification of the corneal stroma OMIM:308205 MBTPS2 51360 HP:0002650 Scoliosis OMIM:308205 MBTPS2 51360 HP:0100533 Inflammatory abnormality of the eye OMIM:308205 MBTPS2 51360 HP:0000682 Abnormality of dental enamel OMIM:308205 MBTPS2 51360 HP:0002205 Recurrent respiratory infections OMIM:308205 MBTPS2 51360 HP:0000648 Optic atrophy OMIM:308205 MBTPS2 51360 HP:0000453 Choanal atresia OMIM:308205 MBTPS2 51360 HP:0002164 Nail dysplasia OMIM:308205 MBTPS2 51360 HP:0000495 Recurrent corneal erosions OMIM:308205 MBTPS2 51360 HP:0000003 Multicystic kidney dysplasia OMIM:308205 MBTPS2 51360 HP:0008404 Nail dystrophy OMIM:308205 MBTPS2 51360 HP:0001539 Omphalocele OMIM:308205 MBTPS2 51360 HP:0002827 Hip dislocation OMIM:308205 MBTPS2 51360 HP:0000612 Iris coloboma OMIM:308205 MBTPS2 51360 HP:0001019 Erythroderma OMIM:308205 MBTPS2 51360 HP:0002808 Kyphosis OMIM:308205 MBTPS2 51360 HP:0000175 Cleft palate OMIM:308205 MBTPS2 51360 HP:0000400 Macrotia OMIM:308205 MBTPS2 51360 HP:0000110 Renal dysplasia OMIM:308205 MBTPS2 51360 HP:0003828 Variable expressivity OMIM:308205 MBTPS2 51360 HP:0001250 Seizures OMIM:308205 MBTPS2 51360 HP:0008678 Renal hypoplasia/aplasia OMIM:308205 MBTPS2 51360 HP:0100490 Camptodactyly of finger OMIM:308205 MBTPS2 51360 HP:0003422 Vertebral segmentation defect OMIM:308205 MBTPS2 51360 HP:0001171 Split hand OMIM:308205 MBTPS2 51360 HP:0000964 Eczema OMIM:308205 MBTPS2 51360 HP:0001537 Umbilical hernia OMIM:614495 KLHL3 26249 HP:0004918 Hyperchloremic metabolic acidosis OMIM:614495 KLHL3 26249 HP:0000007 Autosomal recessive inheritance OMIM:614495 KLHL3 26249 HP:0000822 Hypertension OMIM:614495 KLHL3 26249 HP:0011423 Hyperchloremia OMIM:614495 KLHL3 26249 HP:0008242 Pseudohypoaldosteronism OMIM:614495 KLHL3 26249 HP:0002153 Hyperkalemia OMIM:614495 KLHL3 26249 HP:0000006 Autosomal dominant inheritance OMIM:616171 PLK4 10733 HP:0009879 Cortical gyral simplification OMIM:616171 PLK4 10733 HP:0001511 Intrauterine growth retardation OMIM:616171 PLK4 10733 HP:0001263 Global developmental delay OMIM:616171 PLK4 10733 HP:0000505 Visual impairment OMIM:616171 PLK4 10733 HP:0002059 Cerebral atrophy OMIM:616171 PLK4 10733 HP:0001272 Cerebellar atrophy OMIM:616171 PLK4 10733 HP:0000340 Sloping forehead OMIM:616171 PLK4 10733 HP:0000648 Optic atrophy OMIM:616171 PLK4 10733 HP:0004322 Short stature OMIM:616171 PLK4 10733 HP:0001249 Intellectual disability OMIM:616171 PLK4 10733 HP:0000252 Microcephaly OMIM:616171 PLK4 10733 HP:0000568 Microphthalmos OMIM:616171 PLK4 10733 HP:0000448 Prominent nose OMIM:616171 PLK4 10733 HP:0001250 Seizures OMIM:616171 PLK4 10733 HP:0000347 Micrognathia OMIM:616171 PLK4 10733 HP:0000520 Proptosis OMIM:616171 PLK4 10733 HP:0000488 Retinopathy OMIM:616171 PLK4 10733 HP:0000482 Microcornea OMIM:616171 PLK4 10733 HP:0000518 Cataract OMIM:616171 PLK4 10733 HP:0000543 Optic disc pallor OMIM:612201 NPPA 4878 HP:0005110 Atrial fibrillation OMIM:612201 NPPA 4878 HP:0000006 Autosomal dominant inheritance OMIM:300676 UPF3B 65109 HP:0000275 Narrow face OMIM:300676 UPF3B 65109 HP:0000327 Hypoplasia of the maxilla OMIM:300676 UPF3B 65109 HP:0000774 Narrow chest OMIM:300676 UPF3B 65109 HP:0002808 Kyphosis OMIM:300676 UPF3B 65109 HP:0000256 Macrocephaly OMIM:300676 UPF3B 65109 HP:0001419 X-linked recessive inheritance OMIM:300676 UPF3B 65109 HP:0000303 Mandibular prognathia OMIM:300676 UPF3B 65109 HP:0001833 Long foot OMIM:300676 UPF3B 65109 HP:0000276 Long face OMIM:300676 UPF3B 65109 HP:0000767 Pectus excavatum OMIM:300676 UPF3B 65109 HP:0000768 Pectus carinatum OMIM:300676 UPF3B 65109 HP:0000218 High palate OMIM:300676 UPF3B 65109 HP:0011220 Prominent forehead OMIM:300676 UPF3B 65109 HP:0001611 Nasal speech OMIM:300676 UPF3B 65109 HP:0002007 Frontal bossing OMIM:300676 UPF3B 65109 HP:0001166 Arachnodactyly OMIM:300676 UPF3B 65109 HP:0002650 Scoliosis OMIM:300676 UPF3B 65109 HP:0000426 Prominent nasal bridge OMIM:300676 UPF3B 65109 HP:0001249 Intellectual disability OMIM:300676 UPF3B 65109 HP:0001507 Growth abnormality OMIM:300676 UPF3B 65109 HP:0003011 Abnormality of the musculature OMIM:600224 SPTBN2 6712 HP:0002495 Impaired vibratory sensation OMIM:600224 SPTBN2 6712 HP:0003677 Slow progression OMIM:600224 SPTBN2 6712 HP:0001347 Hyperreflexia OMIM:600224 SPTBN2 6712 HP:0002066 Gait ataxia OMIM:600224 SPTBN2 6712 HP:0001272 Cerebellar atrophy OMIM:600224 SPTBN2 6712 HP:0001252 Muscular hypotonia OMIM:600224 SPTBN2 6712 HP:0002070 Limb ataxia OMIM:600224 SPTBN2 6712 HP:0000317 Facial myokymia OMIM:600224 SPTBN2 6712 HP:0001260 Dysarthria OMIM:600224 SPTBN2 6712 HP:0002075 Dysdiadochokinesis OMIM:600224 SPTBN2 6712 HP:0003593 Infantile onset OMIM:600224 SPTBN2 6712 HP:0001263 Global developmental delay OMIM:600224 SPTBN2 6712 HP:0002080 Intention tremor OMIM:600224 SPTBN2 6712 HP:0000006 Autosomal dominant inheritance OMIM:600224 SPTBN2 6712 HP:0001310 Dysmetria OMIM:600224 SPTBN2 6712 HP:0007772 Impaired smooth pursuit OMIM:600224 SPTBN2 6712 HP:0002311 Incoordination OMIM:600224 SPTBN2 6712 HP:0000640 Gaze-evoked nystagmus OMIM:605019 ANGPTL3 27329 HP:0003563 Hypobetalipoproteinemia OMIM:605019 ANGPTL3 27329 HP:0000007 Autosomal recessive inheritance OMIM:605019 ANGPTL3 27329 HP:0000006 Autosomal dominant inheritance OMIM:605019 ANGPTL3 27329 HP:0012153 Hypotriglyceridemia OMIM:108370 ASNS 440 HP:0000006 Autosomal dominant inheritance OMIM:108370 ASNS 440 HP:0001257 Spasticity OMIM:108370 ASNS 440 HP:0008936 Muscular hypotonia of the trunk OMIM:108370 ASNS 440 HP:0012448 Delayed myelination OMIM:108370 ASNS 440 HP:0011451 Congenital microcephaly OMIM:108370 ASNS 440 HP:0003217 Hyperglutaminemia OMIM:108370 ASNS 440 HP:0002059 Cerebral atrophy OMIM:108370 ASNS 440 HP:0001250 Seizures OMIM:108370 ASNS 440 HP:0001249 Intellectual disability OMIM:229100 FTCD 10841 HP:0004821 Hypersegmentation of neutrophil nuclei OMIM:229100 FTCD 10841 HP:0000007 Autosomal recessive inheritance OMIM:229100 FTCD 10841 HP:0003355 Aminoaciduria OMIM:229100 FTCD 10841 HP:0001249 Intellectual disability OMIM:229100 FTCD 10841 HP:0001889 Megaloblastic anemia OMIM:229100 FTCD 10841 HP:0003612 Positive ferric chloride test OMIM:229100 FTCD 10841 HP:0001510 Growth delay OMIM:259900 AGXT 189 HP:0001678 Atrioventricular block OMIM:259900 AGXT 189 HP:0100758 Gangrene OMIM:259900 AGXT 189 HP:0001063 Acrocyanosis OMIM:259900 AGXT 189 HP:0001138 Optic neuropathy OMIM:259900 AGXT 189 HP:0002756 Pathologic fracture OMIM:259900 AGXT 189 HP:0000488 Retinopathy OMIM:259900 AGXT 189 HP:0000965 Cutis marmorata OMIM:259900 AGXT 189 HP:0001942 Metabolic acidosis OMIM:259900 AGXT 189 HP:0008672 Calcium oxalate nephrolithiasis OMIM:259900 AGXT 189 HP:0000007 Autosomal recessive inheritance OMIM:259900 AGXT 189 HP:0000648 Optic atrophy OMIM:259900 AGXT 189 HP:0003159 Hyperoxaluria OMIM:259900 AGXT 189 HP:0000790 Hematuria OMIM:259900 AGXT 189 HP:0011001 Increased bone mineral density OMIM:259900 AGXT 189 HP:0004417 Intermittent claudication OMIM:259900 AGXT 189 HP:0002653 Bone pain OMIM:259900 AGXT 189 HP:0009830 Peripheral neuropathy OMIM:259900 AGXT 189 HP:0000121 Nephrocalcinosis OMIM:259900 AGXT 189 HP:0005309 Peripheral vascular insufficiency OMIM:259900 AGXT 189 HP:0000083 Renal insufficiency OMIM:606408 TNXB 7148 HP:0000974 Hyperextensible skin OMIM:606408 TNXB 7148 HP:0002036 Hiatus hernia OMIM:606408 TNXB 7148 HP:0003701 Proximal muscle weakness OMIM:606408 TNXB 7148 HP:0000977 Soft skin OMIM:606408 TNXB 7148 HP:0000076 Vesicoureteral reflux OMIM:606408 TNXB 7148 HP:0001382 Joint hypermobility OMIM:606408 TNXB 7148 HP:0009830 Peripheral neuropathy OMIM:606408 TNXB 7148 HP:0003326 Myalgia OMIM:606408 TNXB 7148 HP:0001634 Mitral valve prolapse OMIM:606408 TNXB 7148 HP:0003298 Spina bifida occulta OMIM:606408 TNXB 7148 HP:0002829 Arthralgia OMIM:606408 TNXB 7148 HP:0000978 Bruising susceptibility OMIM:606408 TNXB 7148 HP:0001633 Abnormality of the mitral valve OMIM:606408 TNXB 7148 HP:0011675 Arrhythmia OMIM:606408 TNXB 7148 HP:0003202 Skeletal muscle atrophy OMIM:606408 TNXB 7148 HP:0002637 Cerebral ischemia OMIM:606408 TNXB 7148 HP:0001252 Muscular hypotonia OMIM:606408 TNXB 7148 HP:0001373 Joint dislocation OMIM:606408 TNXB 7148 HP:0002621 Atherosclerosis OMIM:606408 TNXB 7148 HP:0007126 Proximal amyotrophy OMIM:606408 TNXB 7148 HP:0003555 Muscle fiber splitting OMIM:606408 TNXB 7148 HP:0000963 Thin skin OMIM:606408 TNXB 7148 HP:0001578 Hypercortisolism OMIM:606408 TNXB 7148 HP:0000061 Ambiguous genitalia, female OMIM:606408 TNXB 7148 HP:0000007 Autosomal recessive inheritance OMIM:606408 TNXB 7148 HP:0002239 Gastrointestinal hemorrhage OMIM:606408 TNXB 7148 HP:0001324 Muscle weakness OMIM:606408 TNXB 7148 HP:0009025 Increased connective tissue OMIM:606408 TNXB 7148 HP:0000813 Bicornuate uterus OMIM:604717 ACTG1 71 HP:0000006 Autosomal dominant inheritance OMIM:604717 ACTG1 71 HP:0000408 Progressive sensorineural hearing impairment OMIM:604717 ACTG1 71 HP:0008619 Bilateral sensorineural hearing impairment OMIM:604717 ACTG1 71 HP:0011462 Young adult onset OMIM:278740 DDB2 1643 HP:0006739 Squamous cell carcinoma of the skin OMIM:278740 DDB2 1643 HP:0002671 Basal cell carcinoma OMIM:278740 DDB2 1643 HP:0002861 Melanoma OMIM:278740 DDB2 1643 HP:0000509 Conjunctivitis OMIM:278740 DDB2 1643 HP:0000491 Keratitis OMIM:278740 DDB2 1643 HP:0000621 Entropion OMIM:278740 DDB2 1643 HP:0000992 Cutaneous photosensitivity OMIM:278740 DDB2 1643 HP:0003079 Defective DNA repair after ultraviolet radiation damage OMIM:278740 DDB2 1643 HP:0000007 Autosomal recessive inheritance OMIM:278740 DDB2 1643 HP:0004334 Dermal atrophy OMIM:278740 DDB2 1643 HP:0001009 Telangiectasia OMIM:278740 DDB2 1643 HP:0001029 Poikiloderma OMIM:278740 DDB2 1643 HP:0000656 Ectropion OMIM:278740 DDB2 1643 HP:0000613 Photophobia OMIM:611777 GPD1L 23171 HP:0000006 Autosomal dominant inheritance OMIM:611777 GPD1L 23171 HP:0001645 Sudden cardiac death OMIM:611777 GPD1L 23171 HP:0001663 Ventricular fibrillation OMIM:611777 GPD1L 23171 HP:0011705 First degree atrioventricular block OMIM:611777 GPD1L 23171 HP:0001279 Syncope OMIM:611777 GPD1L 23171 HP:0012248 Prolonged PR interval OMIM:611777 GPD1L 23171 HP:0011712 Right bundle branch block OMIM:616402 SASS6 163786 HP:0000718 Aggressive behavior OMIM:616402 SASS6 163786 HP:0002465 Poor speech OMIM:616402 SASS6 163786 HP:0001321 Cerebellar hypoplasia OMIM:616402 SASS6 163786 HP:0001249 Intellectual disability OMIM:616402 SASS6 163786 HP:0001250 Seizures OMIM:616402 SASS6 163786 HP:0001263 Global developmental delay OMIM:616402 SASS6 163786 HP:0000252 Microcephaly OMIM:615643 COASY 80347 HP:0002313 Spastic paraparesis OMIM:615643 COASY 80347 HP:0002063 Rigidity OMIM:615643 COASY 80347 HP:0002180 Neurodegeneration OMIM:615643 COASY 80347 HP:0003676 Progressive disorder OMIM:615643 COASY 80347 HP:0000722 Obsessive-compulsive behavior OMIM:615643 COASY 80347 HP:0001268 Mental deterioration OMIM:615643 COASY 80347 HP:0040083 Toe walking OMIM:615643 COASY 80347 HP:0000007 Autosomal recessive inheritance OMIM:615643 COASY 80347 HP:0001761 Pes cavus OMIM:615643 COASY 80347 HP:0002067 Bradykinesia OMIM:615643 COASY 80347 HP:0007002 Motor axonal neuropathy OMIM:615643 COASY 80347 HP:0001260 Dysarthria OMIM:615643 COASY 80347 HP:0002376 Developmental regression OMIM:615643 COASY 80347 HP:0012048 Oromandibular dystonia OMIM:615643 COASY 80347 HP:0001265 Hyporeflexia OMIM:615643 COASY 80347 HP:0002510 Spastic tetraplegia OMIM:615643 COASY 80347 HP:0003693 Distal amyotrophy OMIM:230350 GALE 2582 HP:0001744 Splenomegaly OMIM:230350 GALE 2582 HP:0012024 Hypergalactosemia OMIM:230350 GALE 2582 HP:0003355 Aminoaciduria OMIM:230350 GALE 2582 HP:0012023 Galactosuria OMIM:230350 GALE 2582 HP:0002194 Delayed gross motor development OMIM:230350 GALE 2582 HP:0001508 Failure to thrive OMIM:230350 GALE 2582 HP:0001249 Intellectual disability OMIM:230350 GALE 2582 HP:0008872 Feeding difficulties in infancy OMIM:230350 GALE 2582 HP:0002017 Nausea and vomiting OMIM:230350 GALE 2582 HP:0002240 Hepatomegaly OMIM:230350 GALE 2582 HP:0001824 Weight loss OMIM:230350 GALE 2582 HP:0000518 Cataract OMIM:230350 GALE 2582 HP:0002013 Vomiting OMIM:230350 GALE 2582 HP:0000407 Sensorineural hearing impairment OMIM:230350 GALE 2582 HP:0000750 Delayed speech and language development OMIM:230350 GALE 2582 HP:0001252 Muscular hypotonia OMIM:230350 GALE 2582 HP:0001263 Global developmental delay OMIM:230350 GALE 2582 HP:0100543 Cognitive impairment OMIM:230350 GALE 2582 HP:0000007 Autosomal recessive inheritance OMIM:230350 GALE 2582 HP:0000952 Jaundice ORPHANET:243 BMP15 9210 HP:0002311 Incoordination ORPHANET:243 BMP15 9210 HP:0004322 Short stature ORPHANET:243 BMP15 9210 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:243 BMP15 9210 HP:0000786 Primary amenorrhea ORPHANET:243 BMP15 9210 HP:0000144 Decreased fertility ORPHANET:243 BMP15 9210 HP:0000869 Secondary amenorrhea ORPHANET:243 BMP15 9210 HP:0000147 Polycystic ovaries ORPHANET:243 BMP15 9210 HP:0002206 Pulmonary fibrosis ORPHANET:243 BMP15 9210 HP:0000365 Hearing impairment ORPHANET:243 BMP15 9210 HP:0001166 Arachnodactyly ORPHANET:243 BMP15 9210 HP:0004349 Reduced bone mineral density ORPHANET:243 BMP15 9210 HP:0000252 Microcephaly ORPHANET:243 FSHR 2492 HP:0002311 Incoordination ORPHANET:243 FSHR 2492 HP:0004322 Short stature ORPHANET:243 FSHR 2492 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:243 FSHR 2492 HP:0000786 Primary amenorrhea ORPHANET:243 FSHR 2492 HP:0000144 Decreased fertility ORPHANET:243 FSHR 2492 HP:0000869 Secondary amenorrhea ORPHANET:243 FSHR 2492 HP:0000147 Polycystic ovaries ORPHANET:243 FSHR 2492 HP:0002206 Pulmonary fibrosis ORPHANET:243 FSHR 2492 HP:0000365 Hearing impairment ORPHANET:243 FSHR 2492 HP:0001166 Arachnodactyly ORPHANET:243 FSHR 2492 HP:0004349 Reduced bone mineral density ORPHANET:243 FSHR 2492 HP:0000252 Microcephaly ORPHANET:243 PSMC3IP 29893 HP:0002311 Incoordination ORPHANET:243 PSMC3IP 29893 HP:0004322 Short stature ORPHANET:243 PSMC3IP 29893 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:243 PSMC3IP 29893 HP:0000786 Primary amenorrhea ORPHANET:243 PSMC3IP 29893 HP:0000144 Decreased fertility ORPHANET:243 PSMC3IP 29893 HP:0000869 Secondary amenorrhea ORPHANET:243 PSMC3IP 29893 HP:0000147 Polycystic ovaries ORPHANET:243 PSMC3IP 29893 HP:0002206 Pulmonary fibrosis ORPHANET:243 PSMC3IP 29893 HP:0000365 Hearing impairment ORPHANET:243 PSMC3IP 29893 HP:0001166 Arachnodactyly ORPHANET:243 PSMC3IP 29893 HP:0004349 Reduced bone mineral density ORPHANET:243 PSMC3IP 29893 HP:0000252 Microcephaly ORPHANET:243 NR5A1 2516 HP:0002311 Incoordination ORPHANET:243 NR5A1 2516 HP:0004322 Short stature ORPHANET:243 NR5A1 2516 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:243 NR5A1 2516 HP:0000786 Primary amenorrhea ORPHANET:243 NR5A1 2516 HP:0000144 Decreased fertility ORPHANET:243 NR5A1 2516 HP:0000869 Secondary amenorrhea ORPHANET:243 NR5A1 2516 HP:0000147 Polycystic ovaries ORPHANET:243 NR5A1 2516 HP:0002206 Pulmonary fibrosis ORPHANET:243 NR5A1 2516 HP:0000365 Hearing impairment ORPHANET:243 NR5A1 2516 HP:0001166 Arachnodactyly ORPHANET:243 NR5A1 2516 HP:0004349 Reduced bone mineral density ORPHANET:243 NR5A1 2516 HP:0000252 Microcephaly OMIM:601200 DICER1 23405 HP:0001939 Abnormality of metabolism/homeostasis OMIM:601200 DICER1 23405 HP:0001472 Familial predisposition OMIM:601200 DICER1 23405 HP:0002859 Rhabdomyosarcoma OMIM:601200 DICER1 23405 HP:0000006 Autosomal dominant inheritance OMIM:601200 DICER1 23405 HP:0100528 Pleuropulmonary blastoma OMIM:601200 DICER1 23405 HP:0002885 Medulloblastoma OMIM:150400 WNT10A 80326 HP:0006342 Peg-shaped maxillary lateral incisors OMIM:150400 WNT10A 80326 HP:0000006 Autosomal dominant inheritance OMIM:259700 TCIRG1 10312 HP:0001876 Pancytopenia OMIM:259700 TCIRG1 10312 HP:0000618 Blindness OMIM:259700 TCIRG1 10312 HP:0010628 Facial palsy OMIM:259700 TCIRG1 10312 HP:0001508 Failure to thrive OMIM:259700 TCIRG1 10312 HP:0000238 Hydrocephalus OMIM:259700 TCIRG1 10312 HP:0000639 Nystagmus OMIM:259700 TCIRG1 10312 HP:0001744 Splenomegaly OMIM:259700 TCIRG1 10312 HP:0000648 Optic atrophy OMIM:259700 TCIRG1 10312 HP:0000365 Hearing impairment OMIM:259700 TCIRG1 10312 HP:0011002 Osteopetrosis OMIM:259700 TCIRG1 10312 HP:0003015 Flared metaphysis OMIM:259700 TCIRG1 10312 HP:0002007 Frontal bossing OMIM:259700 TCIRG1 10312 HP:0001250 Seizures OMIM:259700 TCIRG1 10312 HP:0001903 Anemia OMIM:259700 TCIRG1 10312 HP:0002754 Osteomyelitis OMIM:259700 TCIRG1 10312 HP:0001281 Tetany OMIM:259700 TCIRG1 10312 HP:0000670 Carious teeth OMIM:259700 TCIRG1 10312 HP:0000597 Ophthalmoparesis OMIM:259700 TCIRG1 10312 HP:0002756 Pathologic fracture OMIM:259700 TCIRG1 10312 HP:0002812 Coxa vara OMIM:259700 TCIRG1 10312 HP:0000256 Macrocephaly OMIM:259700 TCIRG1 10312 HP:0004618 Sandwich appearance of vertebral bodies OMIM:259700 TCIRG1 10312 HP:0000007 Autosomal recessive inheritance OMIM:259700 TCIRG1 10312 HP:0007209 Facial paralysis OMIM:259700 TCIRG1 10312 HP:0002240 Hepatomegaly OMIM:259700 TCIRG1 10312 HP:0003155 Elevated alkaline phosphatase ORPHANET:2710 GJA1 2697 HP:0001288 Gait disturbance ORPHANET:2710 GJA1 2697 HP:0000679 Taurodontia ORPHANET:2710 GJA1 2697 HP:0000482 Microcornea ORPHANET:2710 GJA1 2697 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:2710 GJA1 2697 HP:0000486 Strabismus ORPHANET:2710 GJA1 2697 HP:0001347 Hyperreflexia ORPHANET:2710 GJA1 2697 HP:0008572 External ear malformation ORPHANET:2710 GJA1 2697 HP:0000446 Narrow nasal bridge ORPHANET:2710 GJA1 2697 HP:0000670 Carious teeth ORPHANET:2710 GJA1 2697 HP:0002514 Cerebral calcification ORPHANET:2710 GJA1 2697 HP:0010109 Short hallux ORPHANET:2710 GJA1 2697 HP:0006323 Premature loss of primary teeth ORPHANET:2710 GJA1 2697 HP:0004209 Clinodactyly of the 5th finger ORPHANET:2710 GJA1 2697 HP:0100490 Camptodactyly of finger ORPHANET:2710 GJA1 2697 HP:0003103 Abnormal cortical bone morphology ORPHANET:2710 GJA1 2697 HP:0001231 Abnormality of the fingernails ORPHANET:2710 GJA1 2697 HP:0011675 Arrhythmia ORPHANET:2710 GJA1 2697 HP:0000540 Hypermetropia ORPHANET:2710 GJA1 2697 HP:0000079 Abnormality of the urinary system ORPHANET:2710 GJA1 2697 HP:0000316 Hypertelorism ORPHANET:2710 GJA1 2697 HP:0000405 Conductive hearing impairment ORPHANET:2710 GJA1 2697 HP:0000501 Glaucoma ORPHANET:2710 GJA1 2697 HP:0100335 Non-midline cleft lip ORPHANET:2710 GJA1 2697 HP:0000463 Anteverted nares ORPHANET:2710 GJA1 2697 HP:0001770 Toe syndactyly ORPHANET:2710 GJA1 2697 HP:0001156 Brachydactyly syndrome ORPHANET:2710 GJA1 2697 HP:0004374 Hemiplegia/hemiparesis ORPHANET:2710 GJA1 2697 HP:0000490 Deeply set eye ORPHANET:2710 GJA1 2697 HP:0000175 Cleft palate ORPHANET:2710 GJA1 2697 HP:0000889 Abnormality of the clavicle ORPHANET:2710 GJA1 2697 HP:0002217 Slow-growing hair ORPHANET:2710 GJA1 2697 HP:0010761 Broad columella ORPHANET:2710 GJA1 2697 HP:0002213 Fine hair ORPHANET:2710 GJA1 2697 HP:0000187 Broad alveolar ridges ORPHANET:2710 GJA1 2697 HP:0006101 Finger syndactyly ORPHANET:2710 GJA1 2697 HP:0000161 Median cleft lip ORPHANET:2710 GJA1 2697 HP:0000286 Epicanthus ORPHANET:2710 GJA1 2697 HP:0003196 Short nose ORPHANET:2710 GJA1 2697 HP:0000545 Myopia ORPHANET:2710 GJA1 2697 HP:0001324 Muscle weakness ORPHANET:2710 GJA1 2697 HP:0000430 Underdeveloped nasal alae ORPHANET:2710 GJA1 2697 HP:0003067 Madelung deformity ORPHANET:2710 GJA1 2697 HP:0011362 Abnormal hair quantity ORPHANET:2710 GJA1 2697 HP:0001177 Preaxial hand polydactyly ORPHANET:2710 GJA1 2697 HP:0000518 Cataract ORPHANET:2710 GJA1 2697 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:2710 GJA1 2697 HP:0000639 Nystagmus ORPHANET:2710 GJA1 2697 HP:0000505 Visual impairment ORPHANET:2710 GJA1 2697 HP:0001250 Seizures ORPHANET:2710 GJA1 2697 HP:0000648 Optic atrophy ORPHANET:2710 GJA1 2697 HP:0000348 High forehead ORPHANET:2710 GJA1 2697 HP:0004493 Craniofacial hyperostosis ORPHANET:2710 GJA1 2697 HP:0001943 Hypoglycemia ORPHANET:2710 GJA1 2697 HP:0000982 Palmoplantar keratoderma ORPHANET:2710 GJA1 2697 HP:0000303 Mandibular prognathia ORPHANET:2710 GJA1 2697 HP:0000940 Abnormal diaphysis morphology ORPHANET:2710 GJA1 2697 HP:0000581 Blepharophimosis ORPHANET:2710 GJA1 2697 HP:0000347 Micrognathia ORPHANET:2710 GJA1 2697 HP:0001629 Ventricular septal defect ORPHANET:2710 GJA1 2697 HP:0000601 Hypotelorism ORPHANET:2710 GJA1 2697 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2710 GJA1 2697 HP:0002311 Incoordination ORPHANET:2710 GJA1 2697 HP:0001537 Umbilical hernia ORPHANET:2710 GJA1 2697 HP:0000682 Abnormality of dental enamel ORPHANET:2710 GJA1 2697 HP:0001276 Hypertonia ORPHANET:2710 GJA1 2697 HP:0100543 Cognitive impairment ORPHANET:2710 GJA1 2697 HP:0000582 Upslanted palpebral fissure ORPHANET:2710 GJA1 2697 HP:0009804 Reduced number of teeth ORPHANET:2710 GJA1 2697 HP:0000944 Abnormality of the metaphyses ORPHANET:2710 GJA1 2697 HP:0002167 Neurological speech impairment OMIM:615024 PNPLA1 285848 HP:0000007 Autosomal recessive inheritance OMIM:615024 PNPLA1 285848 HP:0000982 Palmoplantar keratoderma OMIM:615024 PNPLA1 285848 HP:0007431 Congenital ichthyosiform erythroderma OMIM:615440 ELAC2 60528 HP:0001639 Hypertrophic cardiomyopathy OMIM:615440 ELAC2 60528 HP:0001510 Growth delay OMIM:615440 ELAC2 60528 HP:0000252 Microcephaly OMIM:615440 ELAC2 60528 HP:0000007 Autosomal recessive inheritance OMIM:615440 ELAC2 60528 HP:0000365 Hearing impairment OMIM:615440 ELAC2 60528 HP:0001252 Muscular hypotonia OMIM:615440 ELAC2 60528 HP:0001635 Congestive heart failure OMIM:615440 ELAC2 60528 HP:0001508 Failure to thrive OMIM:615440 ELAC2 60528 HP:0001263 Global developmental delay OMIM:615440 ELAC2 60528 HP:0003128 Lactic acidosis OMIM:615349 B3GALT6 126792 HP:0000007 Autosomal recessive inheritance OMIM:615349 B3GALT6 126792 HP:0003015 Flared metaphysis OMIM:615349 B3GALT6 126792 HP:0000175 Cleft palate OMIM:615349 B3GALT6 126792 HP:0012368 Flat face OMIM:615349 B3GALT6 126792 HP:0002827 Hip dislocation OMIM:615349 B3GALT6 126792 HP:0000974 Hyperextensible skin OMIM:615349 B3GALT6 126792 HP:0009702 Carpal synostosis OMIM:615349 B3GALT6 126792 HP:0004233 Advanced ossification of carpal bones OMIM:615349 B3GALT6 126792 HP:0000520 Proptosis OMIM:615349 B3GALT6 126792 HP:0001263 Global developmental delay OMIM:615349 B3GALT6 126792 HP:0004325 Decreased body weight OMIM:615349 B3GALT6 126792 HP:0008070 Sparse hair OMIM:615349 B3GALT6 126792 HP:0000767 Pectus excavatum OMIM:615349 B3GALT6 126792 HP:0011341 Long upper lip OMIM:615349 B3GALT6 126792 HP:0000926 Platyspondyly OMIM:615349 B3GALT6 126792 HP:0001252 Muscular hypotonia OMIM:615349 B3GALT6 126792 HP:0001762 Talipes equinovarus OMIM:615349 B3GALT6 126792 HP:0011220 Prominent forehead OMIM:615349 B3GALT6 126792 HP:0000592 Blue sclerae OMIM:615349 B3GALT6 126792 HP:0000973 Cutis laxa OMIM:615349 B3GALT6 126792 HP:0002751 Kyphoscoliosis OMIM:603511 DNAJB6 10049 HP:0002515 Waddling gait OMIM:603511 DNAJB6 10049 HP:0003560 Muscular dystrophy OMIM:603511 DNAJB6 10049 HP:0003677 Slow progression OMIM:603511 DNAJB6 10049 HP:0003551 Difficulty climbing stairs OMIM:603511 DNAJB6 10049 HP:0003555 Muscle fiber splitting OMIM:603511 DNAJB6 10049 HP:0002015 Dysphagia OMIM:603511 DNAJB6 10049 HP:0003236 Elevated serum creatine phosphokinase OMIM:603511 DNAJB6 10049 HP:0000006 Autosomal dominant inheritance OMIM:603511 DNAJB6 10049 HP:0003547 Shoulder girdle muscle weakness OMIM:603511 DNAJB6 10049 HP:0003581 Adult onset OMIM:603511 DNAJB6 10049 HP:0003805 Rimmed vacuoles OMIM:603511 DNAJB6 10049 HP:0003391 Gowers sign OMIM:603511 DNAJB6 10049 HP:0003749 Pelvic girdle muscle weakness OMIM:193300 VHL 7428 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:193300 VHL 7428 HP:0005584 Renal cell carcinoma OMIM:193300 VHL 7428 HP:0005562 Multiple renal cysts OMIM:193300 VHL 7428 HP:0006880 Cerebellar hemangioblastoma OMIM:193300 VHL 7428 HP:0100799 Neoplasm of the middle ear OMIM:193300 VHL 7428 HP:0000975 Hyperhidrosis OMIM:193300 VHL 7428 HP:0000505 Visual impairment OMIM:193300 VHL 7428 HP:0002666 Pheochromocytoma OMIM:193300 VHL 7428 HP:0000238 Hydrocephalus OMIM:193300 VHL 7428 HP:0003812 Phenotypic variability OMIM:193300 VHL 7428 HP:0009711 Retinal hemangioblastoma OMIM:193300 VHL 7428 HP:0002017 Nausea and vomiting OMIM:193300 VHL 7428 HP:0004374 Hemiplegia/hemiparesis OMIM:193300 VHL 7428 HP:0011675 Arrhythmia OMIM:193300 VHL 7428 HP:0000003 Multicystic kidney dysplasia OMIM:193300 VHL 7428 HP:0000822 Hypertension OMIM:193300 VHL 7428 HP:0100026 Arteriovenous malformation OMIM:193300 VHL 7428 HP:0005954 Pulmonary capillary hemangiomatosis OMIM:193300 VHL 7428 HP:0002668 Paraganglioma OMIM:193300 VHL 7428 HP:0009726 Renal neoplasm OMIM:193300 VHL 7428 HP:0000518 Cataract OMIM:193300 VHL 7428 HP:0001392 Abnormality of the liver OMIM:193300 VHL 7428 HP:0100735 Hypertensive crisis OMIM:193300 VHL 7428 HP:0100634 Neuroendocrine neoplasm OMIM:193300 VHL 7428 HP:0000113 Polycystic kidney dysplasia OMIM:193300 VHL 7428 HP:0000541 Retinal detachment OMIM:193300 VHL 7428 HP:0002321 Vertigo OMIM:193300 VHL 7428 HP:0002894 Neoplasm of the pancreas OMIM:193300 VHL 7428 HP:0001737 Pancreatic cysts OMIM:193300 VHL 7428 HP:0001103 Abnormality of the macula OMIM:193300 VHL 7428 HP:0008046 Abnormality of the retinal vasculature OMIM:193300 VHL 7428 HP:0100763 Abnormality of the lymphatic system OMIM:193300 VHL 7428 HP:0100761 Visceral angiomatosis OMIM:193300 VHL 7428 HP:0009715 Papillary cystadenoma of the epididymis OMIM:193300 VHL 7428 HP:0001288 Gait disturbance OMIM:193300 VHL 7428 HP:0000360 Tinnitus OMIM:193300 VHL 7428 HP:0002167 Neurological speech impairment OMIM:193300 VHL 7428 HP:0002076 Migraine OMIM:193300 VHL 7428 HP:0000006 Autosomal dominant inheritance OMIM:193300 VHL 7428 HP:0000407 Sensorineural hearing impairment OMIM:193300 VHL 7428 HP:0001901 Polycythemia OMIM:193300 VHL 7428 HP:0000639 Nystagmus OMIM:193300 VHL 7428 HP:0100659 Abnormality of the cerebral vasculature OMIM:193300 VHL 7428 HP:0000501 Glaucoma OMIM:193300 VHL 7428 HP:0002311 Incoordination OMIM:193300 VHL 7428 HP:0009713 Spinal hemangioblastoma OMIM:193300 VHL 7428 HP:0002516 Increased intracranial pressure OMIM:193300 VHL 7428 HP:0100585 Teleangiectasia of the skin OMIM:112600 BMP2 650 HP:0009575 Triangular shaped middle phalanx of the 2nd finger OMIM:112600 BMP2 650 HP:0009161 Aplasia/Hypoplasia of the middle phalanx of the 5th finger OMIM:112600 BMP2 650 HP:0010109 Short hallux OMIM:112600 BMP2 650 HP:0009204 Bracket epiphysis of the middle phalanx of the 5th finger OMIM:112600 BMP2 650 HP:0004691 2-3 toe syndactyly OMIM:112600 BMP2 650 HP:0001822 Hallux valgus OMIM:112600 BMP2 650 HP:0009467 Radial deviation of the 2nd finger OMIM:112600 BMP2 650 HP:0009182 Triangular shaped middle phalanx of the 5th finger OMIM:112600 BMP2 650 HP:0010055 Broad hallux OMIM:112600 BMP2 650 HP:0004322 Short stature OMIM:112600 BMP2 650 HP:0008096 Medially deviated second toe OMIM:112600 BMP2 650 HP:0009514 Bracket epiphysis of the middle phalanx of the 2nd finger OMIM:112600 BMP2 650 HP:0001163 Abnormality of the metacarpal bones OMIM:112600 BMP2 650 HP:0004220 Short middle phalanx of the 5th finger OMIM:112600 BMP2 650 HP:0009882 Short distal phalanx of finger OMIM:112600 BMP2 650 HP:0001156 Brachydactyly syndrome OMIM:112600 BMP2 650 HP:0009464 Ulnar deviation of the 2nd finger OMIM:112600 BMP2 650 HP:0004209 Clinodactyly of the 5th finger OMIM:112600 BMP2 650 HP:0009568 Aplasia/Hypoplasia of the middle phalanx of the 2nd finger OMIM:112600 BMP2 650 HP:0000006 Autosomal dominant inheritance OMIM:112600 BMP2 650 HP:0010194 Aplasia/Hypoplasia of the middle phalanges of the toes OMIM:112600 BMP2 650 HP:0009536 Short 2nd finger OMIM:112600 GDF5 8200 HP:0009575 Triangular shaped middle phalanx of the 2nd finger OMIM:112600 GDF5 8200 HP:0009161 Aplasia/Hypoplasia of the middle phalanx of the 5th finger OMIM:112600 GDF5 8200 HP:0010109 Short hallux OMIM:112600 GDF5 8200 HP:0009204 Bracket epiphysis of the middle phalanx of the 5th finger OMIM:112600 GDF5 8200 HP:0004691 2-3 toe syndactyly OMIM:112600 GDF5 8200 HP:0001822 Hallux valgus OMIM:112600 GDF5 8200 HP:0009467 Radial deviation of the 2nd finger OMIM:112600 GDF5 8200 HP:0009182 Triangular shaped middle phalanx of the 5th finger OMIM:112600 GDF5 8200 HP:0010055 Broad hallux OMIM:112600 GDF5 8200 HP:0004322 Short stature OMIM:112600 GDF5 8200 HP:0008096 Medially deviated second toe OMIM:112600 GDF5 8200 HP:0009514 Bracket epiphysis of the middle phalanx of the 2nd finger OMIM:112600 GDF5 8200 HP:0001163 Abnormality of the metacarpal bones OMIM:112600 GDF5 8200 HP:0004220 Short middle phalanx of the 5th finger OMIM:112600 GDF5 8200 HP:0009882 Short distal phalanx of finger OMIM:112600 GDF5 8200 HP:0001156 Brachydactyly syndrome OMIM:112600 GDF5 8200 HP:0009464 Ulnar deviation of the 2nd finger OMIM:112600 GDF5 8200 HP:0004209 Clinodactyly of the 5th finger OMIM:112600 GDF5 8200 HP:0009568 Aplasia/Hypoplasia of the middle phalanx of the 2nd finger OMIM:112600 GDF5 8200 HP:0000006 Autosomal dominant inheritance OMIM:112600 GDF5 8200 HP:0010194 Aplasia/Hypoplasia of the middle phalanges of the toes OMIM:112600 GDF5 8200 HP:0009536 Short 2nd finger OMIM:112600 BMPR1B 658 HP:0009575 Triangular shaped middle phalanx of the 2nd finger OMIM:112600 BMPR1B 658 HP:0009161 Aplasia/Hypoplasia of the middle phalanx of the 5th finger OMIM:112600 BMPR1B 658 HP:0010109 Short hallux OMIM:112600 BMPR1B 658 HP:0009204 Bracket epiphysis of the middle phalanx of the 5th finger OMIM:112600 BMPR1B 658 HP:0004691 2-3 toe syndactyly OMIM:112600 BMPR1B 658 HP:0001822 Hallux valgus OMIM:112600 BMPR1B 658 HP:0009467 Radial deviation of the 2nd finger OMIM:112600 BMPR1B 658 HP:0009182 Triangular shaped middle phalanx of the 5th finger OMIM:112600 BMPR1B 658 HP:0010055 Broad hallux OMIM:112600 BMPR1B 658 HP:0004322 Short stature OMIM:112600 BMPR1B 658 HP:0008096 Medially deviated second toe OMIM:112600 BMPR1B 658 HP:0009514 Bracket epiphysis of the middle phalanx of the 2nd finger OMIM:112600 BMPR1B 658 HP:0001163 Abnormality of the metacarpal bones OMIM:112600 BMPR1B 658 HP:0004220 Short middle phalanx of the 5th finger OMIM:112600 BMPR1B 658 HP:0009882 Short distal phalanx of finger OMIM:112600 BMPR1B 658 HP:0001156 Brachydactyly syndrome OMIM:112600 BMPR1B 658 HP:0009464 Ulnar deviation of the 2nd finger OMIM:112600 BMPR1B 658 HP:0004209 Clinodactyly of the 5th finger OMIM:112600 BMPR1B 658 HP:0009568 Aplasia/Hypoplasia of the middle phalanx of the 2nd finger OMIM:112600 BMPR1B 658 HP:0000006 Autosomal dominant inheritance OMIM:112600 BMPR1B 658 HP:0010194 Aplasia/Hypoplasia of the middle phalanges of the toes OMIM:112600 BMPR1B 658 HP:0009536 Short 2nd finger OMIM:608540 ALG1 56052 HP:0000239 Large fontanelles OMIM:608540 ALG1 56052 HP:0001252 Muscular hypotonia OMIM:608540 ALG1 56052 HP:0003642 Type I transferrin isoform profile OMIM:608540 ALG1 56052 HP:0001263 Global developmental delay OMIM:608540 ALG1 56052 HP:0000078 Abnormality of the genital system OMIM:608540 ALG1 56052 HP:0002059 Cerebral atrophy OMIM:608540 ALG1 56052 HP:0001250 Seizures OMIM:608540 ALG1 56052 HP:0002240 Hepatomegaly OMIM:608540 ALG1 56052 HP:0000112 Nephropathy OMIM:608540 ALG1 56052 HP:0001399 Hepatic failure OMIM:608540 ALG1 56052 HP:0000316 Hypertelorism OMIM:608540 ALG1 56052 HP:0000007 Autosomal recessive inheritance OMIM:608540 ALG1 56052 HP:0001638 Cardiomyopathy OMIM:608540 ALG1 56052 HP:0000252 Microcephaly OMIM:608540 ALG1 56052 HP:0001522 Death in infancy OMIM:608540 ALG1 56052 HP:0001511 Intrauterine growth retardation OMIM:608540 ALG1 56052 HP:0001744 Splenomegaly OMIM:608540 ALG1 56052 HP:0000347 Micrognathia OMIM:608540 ALG1 56052 HP:0000233 Thin vermilion border OMIM:608540 ALG1 56052 HP:0000135 Hypogonadism OMIM:608540 ALG1 56052 HP:0001639 Hypertrophic cardiomyopathy OMIM:608540 ALG1 56052 HP:0001371 Flexion contracture OMIM:608540 ALG1 56052 HP:0001284 Areflexia OMIM:608540 ALG1 56052 HP:0001790 Nonimmune hydrops fetalis OMIM:608540 ALG1 56052 HP:0010978 Abnormality of immune system physiology OMIM:608540 ALG1 56052 HP:0100543 Cognitive impairment OMIM:608540 ALG1 56052 HP:0001560 Abnormality of the amniotic fluid ORPHANET:79230 HAMP 57817 HP:0000819 Diabetes mellitus ORPHANET:79230 HAMP 57817 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:79230 HAMP 57817 HP:0002612 Congenital hepatic fibrosis ORPHANET:79230 HAMP 57817 HP:0001738 Exocrine pancreatic insufficiency ORPHANET:79230 HAMP 57817 HP:0004349 Reduced bone mineral density ORPHANET:79230 HAMP 57817 HP:0000078 Abnormality of the genital system ORPHANET:79230 HAMP 57817 HP:0007440 Generalized hyperpigmentation ORPHANET:79230 HAMP 57817 HP:0011031 Abnormality of iron homeostasis ORPHANET:79230 HAMP 57817 HP:0002829 Arthralgia ORPHANET:79230 HFE2 148738 HP:0000819 Diabetes mellitus ORPHANET:79230 HFE2 148738 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:79230 HFE2 148738 HP:0002612 Congenital hepatic fibrosis ORPHANET:79230 HFE2 148738 HP:0001738 Exocrine pancreatic insufficiency ORPHANET:79230 HFE2 148738 HP:0004349 Reduced bone mineral density ORPHANET:79230 HFE2 148738 HP:0000078 Abnormality of the genital system ORPHANET:79230 HFE2 148738 HP:0007440 Generalized hyperpigmentation ORPHANET:79230 HFE2 148738 HP:0011031 Abnormality of iron homeostasis ORPHANET:79230 HFE2 148738 HP:0002829 Arthralgia OMIM:162350 DNAJC5 80331 HP:0002074 Increased neuronal autofluorescent lipopigment OMIM:162350 DNAJC5 80331 HP:0000006 Autosomal dominant inheritance OMIM:162350 DNAJC5 80331 HP:0003678 Rapidly progressive OMIM:162350 DNAJC5 80331 HP:0000726 Dementia OMIM:162350 DNAJC5 80331 HP:0003581 Adult onset OMIM:162350 DNAJC5 80331 HP:0002367 Visual hallucinations OMIM:162350 DNAJC5 80331 HP:0000716 Depression OMIM:162350 DNAJC5 80331 HP:0003208 Fingerprint intracellular accumulation of autofluorescent lipopigment storage material OMIM:162350 DNAJC5 80331 HP:0008765 Auditory hallucinations OMIM:162350 DNAJC5 80331 HP:0003226 Rectilinear intracellular accumulation of autofluorescent lipopigment storage material OMIM:162350 DNAJC5 80331 HP:0001250 Seizures OMIM:162350 DNAJC5 80331 HP:0003205 Curvilinear intracellular accumulation of autofluorescent lipopigment storage material OMIM:162350 DNAJC5 80331 HP:0003657 Granular osmiophilic deposits (GROD) in cells OMIM:162350 DNAJC5 80331 HP:0001251 Ataxia OMIM:162350 DNAJC5 80331 HP:0001336 Myoclonus OMIM:162350 DNAJC5 80331 HP:0001300 Parkinsonism OMIM:607453 CCDC50 152137 HP:0000006 Autosomal dominant inheritance OMIM:607453 CCDC50 152137 HP:0000407 Sensorineural hearing impairment OMIM:605373 SDHC 6391 HP:0003001 Glomus jugular tumor OMIM:605373 SDHC 6391 HP:0003581 Adult onset OMIM:605373 SDHC 6391 HP:0001676 Palpitations (with pheochromocytoma) OMIM:605373 SDHC 6391 HP:0006737 Extraadrenal pheochromocytoma OMIM:605373 SDHC 6391 HP:0000006 Autosomal dominant inheritance OMIM:605373 SDHC 6391 HP:0001011 Diaphoresis (with pheochromocytoma) OMIM:605373 SDHC 6391 HP:0002331 Headache (with pheochromocytoma) OMIM:605373 SDHC 6391 HP:0001606 Vocal cord paralysis (caused by tumor impingement) OMIM:605373 SDHC 6391 HP:0001962 Palpitations OMIM:605373 SDHC 6391 HP:0006748 Adrenal pheochromocytoma OMIM:605373 SDHC 6391 HP:0001613 Hoarse voice (caused by tumor impingement) OMIM:605373 SDHC 6391 HP:0000975 Hyperhidrosis OMIM:605373 SDHC 6391 HP:0001649 Tachycardia OMIM:605373 SDHC 6391 HP:0000361 Pulsatile tinnitus (tympanic paraganglioma) OMIM:605373 SDHC 6391 HP:0001686 Loss of voice OMIM:605373 SDHC 6391 HP:0002377 Paraganglioma-related cranial nerve palsy OMIM:605373 SDHC 6391 HP:0001673 Tachycardia (with pheochromocytoma) OMIM:605373 SDHC 6391 HP:0003334 Elevated circulating catecholamine level OMIM:605373 SDHC 6391 HP:0000740 Anxiety (with pheochromocytoma) OMIM:605373 SDHC 6391 HP:0030074 Chemodectoma OMIM:605373 SDHC 6391 HP:0002640 Hypertension associated with pheochromocytoma OMIM:121820 TGFBI 7045 HP:0000495 Recurrent corneal erosions OMIM:121820 TGFBI 7045 HP:0000006 Autosomal dominant inheritance OMIM:121820 TGFBI 7045 HP:0007690 Map-dot-fingerprint corneal dystrophy OMIM:121820 TGFBI 7045 HP:0001131 Corneal dystrophy ORPHANET:352723 LYST 1130 HP:0200042 Skin ulcer ORPHANET:352723 LYST 1130 HP:0009830 Peripheral neuropathy ORPHANET:352723 LYST 1130 HP:0007513 Generalized hypopigmentation ORPHANET:352723 LYST 1130 HP:0100543 Cognitive impairment ORPHANET:352723 LYST 1130 HP:0000978 Bruising susceptibility ORPHANET:352723 LYST 1130 HP:0002071 Abnormality of extrapyramidal motor function ORPHANET:352723 LYST 1130 HP:0001928 Abnormality of coagulation ORPHANET:352723 LYST 1130 HP:0001276 Hypertonia ORPHANET:352723 LYST 1130 HP:0001107 Ocular albinism ORPHANET:352723 LYST 1130 HP:0002205 Recurrent respiratory infections ORPHANET:352723 LYST 1130 HP:0000421 Epistaxis ORPHANET:352723 LYST 1130 HP:0002311 Incoordination ORPHANET:352723 LYST 1130 HP:0000225 Gingival bleeding ORPHANET:352723 LYST 1130 HP:0100022 Abnormality of movement OMIM:300257 LAMP2 3920 HP:0000505 Visual impairment OMIM:300257 LAMP2 3920 HP:0001644 Dilated cardiomyopathy OMIM:300257 LAMP2 3920 HP:0001423 X-linked dominant inheritance OMIM:300257 LAMP2 3920 HP:0001700 Myocardial necrosis OMIM:300257 LAMP2 3920 HP:0001324 Muscle weakness OMIM:300257 LAMP2 3920 HP:0001639 Hypertrophic cardiomyopathy OMIM:300257 LAMP2 3920 HP:0003710 Exercise-induced muscle cramps OMIM:300257 LAMP2 3920 HP:0011675 Arrhythmia OMIM:300257 LAMP2 3920 HP:0001249 Intellectual disability OMIM:300257 LAMP2 3920 HP:0001288 Gait disturbance OMIM:300257 LAMP2 3920 HP:0003458 EMG: myopathic abnormalities OMIM:300257 LAMP2 3920 HP:0003546 Exercise intolerance OMIM:300257 LAMP2 3920 HP:0001645 Sudden cardiac death OMIM:300257 LAMP2 3920 HP:0100543 Cognitive impairment OMIM:300257 LAMP2 3920 HP:0001263 Global developmental delay OMIM:300257 LAMP2 3920 HP:0003236 Elevated serum creatine phosphokinase OMIM:300257 LAMP2 3920 HP:0001716 Wolff-Parkinson-White syndrome OMIM:300257 LAMP2 3920 HP:0002375 Hypokinesia OMIM:300257 LAMP2 3920 HP:0003812 Phenotypic variability OMIM:300257 LAMP2 3920 HP:0001640 Cardiomegaly OMIM:300257 LAMP2 3920 HP:0003701 Proximal muscle weakness OMIM:300257 LAMP2 3920 HP:0001685 Myocardial fibrosis OMIM:300257 LAMP2 3920 HP:0003700 Generalized amyotrophy OMIM:300257 LAMP2 3920 HP:0001761 Pes cavus OMIM:606071 TRPV4 59341 HP:0007230 Decreased distal sensory nerve action potential OMIM:606071 TRPV4 59341 HP:0000012 Urinary urgency OMIM:606071 TRPV4 59341 HP:0001761 Pes cavus OMIM:606071 TRPV4 59341 HP:0002870 Obstructive sleep apnea OMIM:606071 TRPV4 59341 HP:0001765 Hammertoe OMIM:606071 TRPV4 59341 HP:0003674 Onset OMIM:606071 TRPV4 59341 HP:0010307 Stridor OMIM:606071 TRPV4 59341 HP:0000020 Urinary incontinence OMIM:606071 TRPV4 59341 HP:0003829 Incomplete penetrance OMIM:606071 TRPV4 59341 HP:0009113 Diaphragmatic weakness OMIM:606071 TRPV4 59341 HP:0012246 Oculomotor nerve palsy OMIM:606071 TRPV4 59341 HP:0009130 Hand muscle atrophy OMIM:606071 TRPV4 59341 HP:0002460 Distal muscle weakness OMIM:606071 TRPV4 59341 HP:0000407 Sensorineural hearing impairment OMIM:606071 TRPV4 59341 HP:0004878 Intercostal muscle weakness OMIM:606071 TRPV4 59341 HP:0002936 Distal sensory impairment OMIM:606071 TRPV4 59341 HP:0002878 Respiratory failure OMIM:606071 TRPV4 59341 HP:0000006 Autosomal dominant inheritance OMIM:606071 TRPV4 59341 HP:0011349 Abducens palsy OMIM:606071 TRPV4 59341 HP:0001604 Vocal cord paresis OMIM:606071 TRPV4 59341 HP:0200021 Down-sloping shoulders OMIM:606071 TRPV4 59341 HP:0003724 Shoulder girdle muscle atrophy OMIM:606071 TRPV4 59341 HP:0001284 Areflexia OMIM:606071 TRPV4 59341 HP:0002650 Scoliosis OMIM:606071 TRPV4 59341 HP:0001265 Hyporeflexia OMIM:606071 TRPV4 59341 HP:0009027 Foot dorsiflexor weakness OMIM:606071 TRPV4 59341 HP:0004322 Short stature OMIM:608022 BMPER 168667 HP:0003275 Narrow pelvis bone OMIM:608022 BMPER 168667 HP:0100880 Nephrogenic rest OMIM:608022 BMPER 168667 HP:0001511 Intrauterine growth retardation OMIM:608022 BMPER 168667 HP:0005257 Thoracic hypoplasia OMIM:608022 BMPER 168667 HP:0002098 Respiratory distress OMIM:608022 BMPER 168667 HP:0000175 Cleft palate OMIM:608022 BMPER 168667 HP:0200133 Lumbosacral meningocele OMIM:608022 BMPER 168667 HP:0002126 Polymicrogyria OMIM:608022 BMPER 168667 HP:0002475 Myelomeningocele OMIM:608022 BMPER 168667 HP:0008643 Nephroblastomatosis OMIM:608022 BMPER 168667 HP:0030290 Unossified sacrum OMIM:608022 BMPER 168667 HP:0005280 Depressed nasal bridge OMIM:608022 BMPER 168667 HP:0000286 Epicanthus OMIM:608022 BMPER 168667 HP:0001562 Oligohydramnios OMIM:608022 BMPER 168667 HP:0000023 Inguinal hernia OMIM:608022 BMPER 168667 HP:0008435 Absent in utero ossification of vertebral bodies OMIM:608022 BMPER 168667 HP:0000470 Short neck OMIM:608022 BMPER 168667 HP:0001765 Hammertoe OMIM:608022 BMPER 168667 HP:0001252 Muscular hypotonia OMIM:608022 BMPER 168667 HP:0000239 Large fontanelles OMIM:608022 BMPER 168667 HP:0000113 Polycystic kidney dysplasia OMIM:608022 BMPER 168667 HP:0000465 Webbed neck OMIM:608022 BMPER 168667 HP:0010880 Increased nuchal translucency OMIM:608022 BMPER 168667 HP:0006615 Absent in utero rib ossification OMIM:608022 BMPER 168667 HP:0003521 Disproportionate short-trunk short stature OMIM:608022 BMPER 168667 HP:0002779 Tracheomalacia OMIM:608022 BMPER 168667 HP:0000347 Micrognathia OMIM:608022 BMPER 168667 HP:0002089 Pulmonary hypoplasia OMIM:608022 BMPER 168667 HP:0003196 Short nose OMIM:608022 BMPER 168667 HP:0000316 Hypertelorism OMIM:608022 BMPER 168667 HP:0000105 Enlarged kidneys OMIM:608022 BMPER 168667 HP:0000457 Depressed nasal ridge OMIM:608022 BMPER 168667 HP:0000007 Autosomal recessive inheritance OMIM:608022 BMPER 168667 HP:0001804 Hypoplastic fingernail OMIM:608022 BMPER 168667 HP:0001538 Protuberant abdomen OMIM:608022 BMPER 168667 HP:0000369 Low-set ears OMIM:608022 BMPER 168667 HP:0000800 Cystic renal dysplasia OMIM:608022 BMPER 168667 HP:0001762 Talipes equinovarus OMIM:608022 BMPER 168667 HP:0010306 Short thorax OMIM:608022 BMPER 168667 HP:0003422 Vertebral segmentation defect OMIM:608022 BMPER 168667 HP:0000921 Missing ribs OMIM:608022 BMPER 168667 HP:0001263 Global developmental delay OMIM:608022 BMPER 168667 HP:0100752 Abnormal liver lobulation OMIM:608022 BMPER 168667 HP:0001591 Bell-shaped thorax OMIM:604391 MRE11A 4361 HP:0001265 Hyporeflexia OMIM:604391 MRE11A 4361 HP:0002075 Dysdiadochokinesis OMIM:604391 MRE11A 4361 HP:0001260 Dysarthria OMIM:604391 MRE11A 4361 HP:0000640 Gaze-evoked nystagmus OMIM:604391 MRE11A 4361 HP:0001332 Dystonia OMIM:604391 MRE11A 4361 HP:0000657 Oculomotor apraxia OMIM:604391 MRE11A 4361 HP:0003676 Progressive disorder OMIM:604391 MRE11A 4361 HP:0007772 Impaired smooth pursuit OMIM:604391 MRE11A 4361 HP:0001009 Telangiectasia OMIM:604391 MRE11A 4361 HP:0000007 Autosomal recessive inheritance OMIM:604391 MRE11A 4361 HP:0002359 Frequent falls OMIM:604391 MRE11A 4361 HP:0000571 Hypometric saccades OMIM:604391 MRE11A 4361 HP:0003693 Distal amyotrophy OMIM:604391 MRE11A 4361 HP:0002066 Gait ataxia OMIM:604391 MRE11A 4361 HP:0001272 Cerebellar atrophy OMIM:604391 MRE11A 4361 HP:0002061 Lower limb spasticity OMIM:604391 MRE11A 4361 HP:0002072 Chorea OMIM:191900 NLRP3 114548 HP:0001974 Leukocytosis OMIM:191900 NLRP3 114548 HP:0006824 Cranial nerve paralysis OMIM:191900 NLRP3 114548 HP:0003326 Myalgia OMIM:191900 NLRP3 114548 HP:0008064 Ichthyosis OMIM:191900 NLRP3 114548 HP:0100490 Camptodactyly of finger OMIM:191900 NLRP3 114548 HP:0003565 Elevated erythrocyte sedimentation rate OMIM:191900 NLRP3 114548 HP:0011107 Recurrent aphthous stomatitis OMIM:191900 NLRP3 114548 HP:0000365 Hearing impairment OMIM:191900 NLRP3 114548 HP:0001917 Renal amyloidosis OMIM:191900 NLRP3 114548 HP:0001954 Episodic fever OMIM:191900 NLRP3 114548 HP:0000256 Macrocephaly OMIM:191900 NLRP3 114548 HP:0002240 Hepatomegaly OMIM:191900 NLRP3 114548 HP:0001761 Pes cavus OMIM:191900 NLRP3 114548 HP:0000501 Glaucoma OMIM:191900 NLRP3 114548 HP:0001608 Abnormality of the voice OMIM:191900 NLRP3 114548 HP:0000006 Autosomal dominant inheritance OMIM:191900 NLRP3 114548 HP:0000408 Progressive sensorineural hearing impairment OMIM:191900 NLRP3 114548 HP:0004299 Hernia of the abdominal wall OMIM:191900 NLRP3 114548 HP:0001025 Urticaria OMIM:191900 NLRP3 114548 HP:0000509 Conjunctivitis OMIM:191900 NLRP3 114548 HP:0000951 Abnormality of the skin OMIM:191900 NLRP3 114548 HP:0003202 Skeletal muscle atrophy OMIM:191900 NLRP3 114548 HP:0003593 Infantile onset OMIM:191900 NLRP3 114548 HP:0000366 Abnormality of the nose OMIM:191900 NLRP3 114548 HP:0000083 Renal insufficiency OMIM:191900 NLRP3 114548 HP:0002633 Vasculitis OMIM:191900 NLRP3 114548 HP:0000078 Abnormality of the genital system OMIM:191900 NLRP3 114548 HP:0002027 Abdominal pain OMIM:191900 NLRP3 114548 HP:0000174 Abnormality of the palate OMIM:191900 NLRP3 114548 HP:0001903 Anemia OMIM:191900 NLRP3 114548 HP:0001369 Arthritis OMIM:191900 NLRP3 114548 HP:0001769 Broad foot OMIM:191900 NLRP3 114548 HP:0002091 Restrictive lung disease OMIM:191900 NLRP3 114548 HP:0001744 Splenomegaly OMIM:191900 NLRP3 114548 HP:0000648 Optic atrophy OMIM:191900 NLRP3 114548 HP:0000100 Nephrotic syndrome OMIM:191900 NLRP3 114548 HP:0004370 Abnormality of temperature regulation OMIM:191900 NLRP3 114548 HP:0002829 Arthralgia OMIM:191900 NLRP3 114548 HP:0004322 Short stature OMIM:191900 NLRP3 114548 HP:0000112 Nephropathy OMIM:191900 NLRP3 114548 HP:0001271 Polyneuropathy OMIM:255600 COL6A2 1292 HP:0002460 Distal muscle weakness OMIM:255600 COL6A2 1292 HP:0005952 Decreased pulmonary function OMIM:255600 COL6A2 1292 HP:0003236 Elevated serum creatine phosphokinase OMIM:255600 COL6A2 1292 HP:0002938 Lumbar hyperlordosis OMIM:255600 COL6A2 1292 HP:0003676 Progressive disorder OMIM:255600 COL6A2 1292 HP:0009025 Increased connective tissue OMIM:255600 COL6A2 1292 HP:0000007 Autosomal recessive inheritance OMIM:255600 COL6A2 1292 HP:0010628 Facial palsy OMIM:255600 COL6A2 1292 HP:0003202 Skeletal muscle atrophy OMIM:255600 COL6A2 1292 HP:0005997 Restricted neck movement due to contractures OMIM:255600 COL6A2 1292 HP:0004322 Short stature OMIM:255600 COL6A2 1292 HP:0003306 Spinal rigidity OMIM:255600 COL6A2 1292 HP:0003701 Proximal muscle weakness OMIM:255600 COL6A2 1292 HP:0001771 Achilles tendon contracture OMIM:255600 COL6A2 1292 HP:0003621 Juvenile onset OMIM:255600 COL6A2 1292 HP:0002944 Thoracolumbar scoliosis OMIM:600652 MYH14 79784 HP:0000408 Progressive sensorineural hearing impairment OMIM:600652 MYH14 79784 HP:0000006 Autosomal dominant inheritance OMIM:615377 SCN1B 6324 HP:0001650 Aortic valve stenosis OMIM:615377 SCN1B 6324 HP:0004757 Paroxysmal atrial fibrillation OMIM:135700 KIF21A 55605 HP:0012241 Levator palpebrae superioris atrophy OMIM:135700 KIF21A 55605 HP:0001477 Compensatory chin elevation OMIM:135700 KIF21A 55605 HP:0000577 Exotropia OMIM:135700 KIF21A 55605 HP:0000565 Esotropia OMIM:135700 KIF21A 55605 HP:0012242 Superior rectus atrophy OMIM:135700 KIF21A 55605 HP:0007936 Restrictive external ophthalmoplegia OMIM:135700 KIF21A 55605 HP:0000006 Autosomal dominant inheritance OMIM:135700 KIF21A 55605 HP:0001488 Bilateral ptosis OMIM:135700 KIF21A 55605 HP:0001491 Congenital fibrosis of extraocular muscles OMIM:233650 RAG2 5897 HP:0005403 T lymphocytopenia OMIM:233650 RAG2 5897 HP:0004315 IgG deficiency OMIM:233650 RAG2 5897 HP:0002205 Recurrent respiratory infections OMIM:233650 RAG2 5897 HP:0010976 B lymphocytopenia OMIM:233650 RAG2 5897 HP:0005387 Combined immunodeficiency OMIM:233650 RAG2 5897 HP:0000007 Autosomal recessive inheritance OMIM:233650 RAG2 5897 HP:0003593 Infantile onset OMIM:233650 RAG1 5896 HP:0005403 T lymphocytopenia OMIM:233650 RAG1 5896 HP:0004315 IgG deficiency OMIM:233650 RAG1 5896 HP:0002205 Recurrent respiratory infections OMIM:233650 RAG1 5896 HP:0010976 B lymphocytopenia OMIM:233650 RAG1 5896 HP:0005387 Combined immunodeficiency OMIM:233650 RAG1 5896 HP:0000007 Autosomal recessive inheritance OMIM:233650 RAG1 5896 HP:0003593 Infantile onset OMIM:603909 CASP10 843 HP:0003262 Smooth muscle antibody positivity OMIM:603909 CASP10 843 HP:0002240 Hepatomegaly OMIM:603909 CASP10 843 HP:0001891 Iron deficiency anemia OMIM:603909 CASP10 843 HP:0000100 Nephrotic syndrome OMIM:603909 CASP10 843 HP:0001025 Urticaria OMIM:603909 CASP10 843 HP:0001744 Splenomegaly OMIM:603909 CASP10 843 HP:0002731 Defective lymphocyte apoptosis OMIM:603909 CASP10 843 HP:0002972 Reduced delayed hypersensitivity OMIM:603909 CASP10 843 HP:0002851 Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors OMIM:603909 CASP10 843 HP:0002923 Rheumatoid factor positive OMIM:603909 CASP10 843 HP:0003237 Increased IgG level OMIM:603909 CASP10 843 HP:0004844 Coombs-positive hemolytic anemia OMIM:603909 CASP10 843 HP:0001880 Eosinophilia OMIM:603909 CASP10 843 HP:0003453 Antineutrophil antibody positivity OMIM:603909 CASP10 843 HP:0002845 Increased number of peripheral CD3+ T cells OMIM:603909 CASP10 843 HP:0002853 Increased proportion of HLA DR+ and CD57+ T cells OMIM:603909 CASP10 843 HP:0003613 Antiphospholipid antibody positivity OMIM:603909 CASP10 843 HP:0002729 Follicular hyperplasia OMIM:603909 CASP10 843 HP:0003261 Increased IgA level OMIM:603909 CASP10 843 HP:0000006 Autosomal dominant inheritance OMIM:603909 CASP10 843 HP:0002730 Chronic noninfectious lymphadenopathy OMIM:603909 CASP10 843 HP:0001890 Autoimmune hemolytic anemia OMIM:603909 CASP10 843 HP:0001973 Autoimmune thrombocytopenia OMIM:603909 CASP10 843 HP:0001904 Autoimmune neutropenia OMIM:603909 CASP10 843 HP:0005404 Increase in B cell number OMIM:603909 CASP10 843 HP:0003621 Juvenile onset OMIM:603909 CASP10 843 HP:0003454 Platelet antibody positive OMIM:603909 CASP10 843 HP:0003496 Increased IgM level OMIM:603909 CASP10 843 HP:0003493 Antinuclear antibody positivity OMIM:603909 CASP10 843 HP:0002633 Vasculitis OMIM:603909 CASP10 843 HP:0000123 Nephritis ORPHANET:93160 VDR 7421 HP:0006323 Premature loss of primary teeth ORPHANET:93160 VDR 7421 HP:0002797 Osteolysis ORPHANET:93160 VDR 7421 HP:0002857 Genu valgum ORPHANET:93160 VDR 7421 HP:0000843 Hyperparathyroidism ORPHANET:93160 VDR 7421 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:93160 VDR 7421 HP:0002650 Scoliosis ORPHANET:93160 VDR 7421 HP:0002757 Recurrent fractures ORPHANET:93160 VDR 7421 HP:0009124 Abnormality of adipose tissue ORPHANET:93160 VDR 7421 HP:0002970 Genu varum ORPHANET:93160 VDR 7421 HP:0001596 Alopecia ORPHANET:93160 VDR 7421 HP:0001288 Gait disturbance ORPHANET:93160 VDR 7421 HP:0012062 Bone cyst ORPHANET:93160 VDR 7421 HP:0002653 Bone pain ORPHANET:93160 VDR 7421 HP:0002148 Hypophosphatemia ORPHANET:93160 VDR 7421 HP:0002007 Frontal bossing ORPHANET:93160 VDR 7421 HP:0004349 Reduced bone mineral density ORPHANET:93160 VDR 7421 HP:0000944 Abnormality of the metaphyses ORPHANET:93160 VDR 7421 HP:0004322 Short stature ORPHANET:93160 VDR 7421 HP:0000765 Abnormality of the thorax ORPHANET:93160 VDR 7421 HP:0100670 Rough bone trabeculation ORPHANET:93160 VDR 7421 HP:0000268 Dolichocephaly ORPHANET:93160 VDR 7421 HP:0002901 Hypocalcemia ORPHANET:93160 VDR 7421 HP:0003272 Abnormality of the hip bone ORPHANET:93160 VDR 7421 HP:0000787 Nephrolithiasis ORPHANET:94063 LEMD3 23592 HP:0001511 Intrauterine growth retardation ORPHANET:94063 LEMD3 23592 HP:0100542 Abnormal localization of kidney ORPHANET:94063 LEMD3 23592 HP:0004322 Short stature ORPHANET:94063 LEMD3 23592 HP:0100543 Cognitive impairment ORPHANET:94063 LEMD3 23592 HP:0001000 Abnormality of skin pigmentation ORPHANET:94063 LEMD3 23592 HP:0001252 Muscular hypotonia ORPHANET:94063 LEMD3 23592 HP:0000574 Thick eyebrow ORPHANET:94063 LEMD3 23592 HP:0000426 Prominent nasal bridge ORPHANET:94063 LEMD3 23592 HP:0002566 Intestinal malrotation ORPHANET:94063 LEMD3 23592 HP:0003202 Skeletal muscle atrophy ORPHANET:94063 LEMD3 23592 HP:0002167 Neurological speech impairment ORPHANET:94063 LEMD3 23592 HP:0002308 Arnold-Chiari malformation ORPHANET:94063 LEMD3 23592 HP:0004209 Clinodactyly of the 5th finger ORPHANET:94063 LEMD3 23592 HP:0005288 Abnormality of the nares ORPHANET:94063 LEMD3 23592 HP:0001337 Tremor ORPHANET:94063 LEMD3 23592 HP:0001743 Abnormality of the spleen ORPHANET:94063 LEMD3 23592 HP:0000664 Synophrys ORPHANET:94063 LEMD3 23592 HP:0000819 Diabetes mellitus ORPHANET:94063 LEMD3 23592 HP:0000347 Micrognathia ORPHANET:94063 LEMD3 23592 HP:0003396 Syringomyelia ORPHANET:94063 LEMD3 23592 HP:0000233 Thin vermilion border ORPHANET:94063 LEMD3 23592 HP:0009804 Reduced number of teeth ORPHANET:94063 LEMD3 23592 HP:0002650 Scoliosis ORPHANET:94063 LEMD3 23592 HP:0000490 Deeply set eye ORPHANET:94063 LEMD3 23592 HP:0008678 Renal hypoplasia/aplasia ORPHANET:94063 LEMD3 23592 HP:0002007 Frontal bossing ORPHANET:94063 LEMD3 23592 HP:0002652 Skeletal dysplasia ORPHANET:94063 LEMD3 23592 HP:0002714 Downturned corners of mouth ORPHANET:94063 LEMD3 23592 HP:0000325 Triangular face ORPHANET:94063 HMGA2 8091 HP:0001511 Intrauterine growth retardation ORPHANET:94063 HMGA2 8091 HP:0100542 Abnormal localization of kidney ORPHANET:94063 HMGA2 8091 HP:0004322 Short stature ORPHANET:94063 HMGA2 8091 HP:0100543 Cognitive impairment ORPHANET:94063 HMGA2 8091 HP:0001000 Abnormality of skin pigmentation ORPHANET:94063 HMGA2 8091 HP:0001252 Muscular hypotonia ORPHANET:94063 HMGA2 8091 HP:0000574 Thick eyebrow ORPHANET:94063 HMGA2 8091 HP:0000426 Prominent nasal bridge ORPHANET:94063 HMGA2 8091 HP:0002566 Intestinal malrotation ORPHANET:94063 HMGA2 8091 HP:0003202 Skeletal muscle atrophy ORPHANET:94063 HMGA2 8091 HP:0002167 Neurological speech impairment ORPHANET:94063 HMGA2 8091 HP:0002308 Arnold-Chiari malformation ORPHANET:94063 HMGA2 8091 HP:0004209 Clinodactyly of the 5th finger ORPHANET:94063 HMGA2 8091 HP:0005288 Abnormality of the nares ORPHANET:94063 HMGA2 8091 HP:0001337 Tremor ORPHANET:94063 HMGA2 8091 HP:0001743 Abnormality of the spleen ORPHANET:94063 HMGA2 8091 HP:0000664 Synophrys ORPHANET:94063 HMGA2 8091 HP:0000819 Diabetes mellitus ORPHANET:94063 HMGA2 8091 HP:0000347 Micrognathia ORPHANET:94063 HMGA2 8091 HP:0003396 Syringomyelia ORPHANET:94063 HMGA2 8091 HP:0000233 Thin vermilion border ORPHANET:94063 HMGA2 8091 HP:0009804 Reduced number of teeth ORPHANET:94063 HMGA2 8091 HP:0002650 Scoliosis ORPHANET:94063 HMGA2 8091 HP:0000490 Deeply set eye ORPHANET:94063 HMGA2 8091 HP:0008678 Renal hypoplasia/aplasia ORPHANET:94063 HMGA2 8091 HP:0002007 Frontal bossing ORPHANET:94063 HMGA2 8091 HP:0002652 Skeletal dysplasia ORPHANET:94063 HMGA2 8091 HP:0002714 Downturned corners of mouth ORPHANET:94063 HMGA2 8091 HP:0000325 Triangular face ORPHANET:1412 NOG 9241 HP:0008368 Tarsal synostosis ORPHANET:1412 NOG 9241 HP:0004322 Short stature ORPHANET:1412 NOG 9241 HP:0003028 Abnormality of the ankles OMIM:615493 ANK3 288 HP:0001252 Muscular hypotonia OMIM:615493 ANK3 288 HP:0001257 Spasticity OMIM:615493 ANK3 288 HP:0001249 Intellectual disability OMIM:615493 ANK3 288 HP:0000752 Hyperactivity OMIM:615493 ANK3 288 HP:0000718 Aggressive behavior OMIM:615493 ANK3 288 HP:0002360 Sleep disturbance OMIM:615493 ANK3 288 HP:0000007 Autosomal recessive inheritance OMIM:615493 ANK3 288 HP:0001250 Seizures OMIM:257300 BUB1B 701 HP:0002119 Ventriculomegaly OMIM:257300 BUB1B 701 HP:0001562 Oligohydramnios OMIM:257300 BUB1B 701 HP:0000358 Posteriorly rotated ears OMIM:257300 BUB1B 701 HP:0000470 Short neck OMIM:257300 BUB1B 701 HP:0000207 Triangular mouth OMIM:257300 BUB1B 701 HP:0001321 Cerebellar hypoplasia OMIM:257300 BUB1B 701 HP:0000175 Cleft palate OMIM:257300 BUB1B 701 HP:0001518 Small for gestational age OMIM:257300 BUB1B 701 HP:0000879 Short sternum OMIM:257300 BUB1B 701 HP:0006872 Cerebral hypoplasia OMIM:257300 BUB1B 701 HP:0000582 Upslanted palpebral fissure OMIM:257300 BUB1B 701 HP:0001909 Leukemia OMIM:257300 BUB1B 701 HP:0000343 Long philtrum OMIM:257300 BUB1B 701 HP:0008897 Postnatal growth retardation OMIM:257300 BUB1B 701 HP:0005280 Depressed nasal bridge OMIM:257300 BUB1B 701 HP:0000028 Cryptorchidism OMIM:257300 BUB1B 701 HP:0000238 Hydrocephalus OMIM:257300 BUB1B 701 HP:0002123 Generalized myoclonic seizures OMIM:257300 BUB1B 701 HP:0200024 Premature chromatid separation OMIM:257300 BUB1B 701 HP:0008872 Feeding difficulties in infancy OMIM:257300 BUB1B 701 HP:0000062 Ambiguous genitalia OMIM:257300 BUB1B 701 HP:0000347 Micrognathia OMIM:257300 BUB1B 701 HP:0000047 Hypospadias OMIM:257300 BUB1B 701 HP:0000463 Anteverted nares OMIM:257300 BUB1B 701 HP:0001305 Dandy-Walker malformation OMIM:257300 BUB1B 701 HP:0000054 Micropenis OMIM:257300 BUB1B 701 HP:0003812 Phenotypic variability OMIM:257300 BUB1B 701 HP:0000272 Malar flattening OMIM:257300 BUB1B 701 HP:0011800 Midface retrusion OMIM:257300 BUB1B 701 HP:0000252 Microcephaly OMIM:257300 BUB1B 701 HP:0003196 Short nose OMIM:257300 BUB1B 701 HP:0005387 Combined immunodeficiency OMIM:257300 BUB1B 701 HP:0000369 Low-set ears OMIM:257300 BUB1B 701 HP:0000518 Cataract OMIM:257300 BUB1B 701 HP:0000286 Epicanthus OMIM:257300 BUB1B 701 HP:0006849 Hypodysplasia of the corpus callosum OMIM:257300 BUB1B 701 HP:0001511 Intrauterine growth retardation OMIM:257300 BUB1B 701 HP:0000445 Wide nose OMIM:257300 BUB1B 701 HP:0002187 Intellectual disability, profound OMIM:257300 BUB1B 701 HP:0011344 Severe global developmental delay OMIM:257300 BUB1B 701 HP:0000348 High forehead OMIM:257300 BUB1B 701 HP:0000639 Nystagmus OMIM:257300 BUB1B 701 HP:0004322 Short stature OMIM:257300 BUB1B 701 HP:0000316 Hypertelorism OMIM:257300 BUB1B 701 HP:0002069 Generalized tonic-clonic seizures OMIM:257300 BUB1B 701 HP:0000248 Brachycephaly OMIM:257300 BUB1B 701 HP:0001290 Generalized hypotonia OMIM:257300 BUB1B 701 HP:0002859 Rhabdomyosarcoma OMIM:257300 BUB1B 701 HP:0000007 Autosomal recessive inheritance OMIM:257300 BUB1B 701 HP:0000107 Renal cyst OMIM:257300 BUB1B 701 HP:0001274 Agenesis of corpus callosum OMIM:257300 BUB1B 701 HP:0000048 Bifid scrotum OMIM:257300 BUB1B 701 HP:0002667 Nephroblastoma (Wilms tumor) OMIM:263300 JAK2 3717 HP:0004418 Thrombophlebitis OMIM:263300 JAK2 3717 HP:0001974 Leukocytosis OMIM:263300 JAK2 3717 HP:0002863 Myelodysplasia OMIM:263300 JAK2 3717 HP:0001428 Somatic mutation OMIM:263300 JAK2 3717 HP:0002076 Migraine OMIM:263300 JAK2 3717 HP:0000989 Pruritus OMIM:263300 JAK2 3717 HP:0001677 Coronary artery disease OMIM:263300 JAK2 3717 HP:0002829 Arthralgia OMIM:263300 JAK2 3717 HP:0001907 Thromboembolism OMIM:263300 JAK2 3717 HP:0000978 Bruising susceptibility OMIM:263300 JAK2 3717 HP:0003745 Sporadic OMIM:263300 JAK2 3717 HP:0002637 Cerebral ischemia OMIM:263300 JAK2 3717 HP:0001824 Weight loss OMIM:263300 JAK2 3717 HP:0004420 Arterial thrombosis OMIM:263300 JAK2 3717 HP:0001894 Thrombocytosis OMIM:263300 JAK2 3717 HP:0002321 Vertigo OMIM:263300 JAK2 3717 HP:0000421 Epistaxis OMIM:263300 JAK2 3717 HP:0000225 Gingival bleeding OMIM:263300 JAK2 3717 HP:0002027 Abdominal pain OMIM:263300 JAK2 3717 HP:0001900 Increased hemoglobin OMIM:263300 JAK2 3717 HP:0001873 Thrombocytopenia OMIM:263300 JAK2 3717 HP:0000360 Tinnitus OMIM:263300 JAK2 3717 HP:0001409 Portal hypertension OMIM:263300 JAK2 3717 HP:0002488 Acute leukemia OMIM:263300 JAK2 3717 HP:0002639 Budd-Chiari syndrome OMIM:263300 JAK2 3717 HP:0001744 Splenomegaly OMIM:263300 JAK2 3717 HP:0002093 Respiratory insufficiency OMIM:263300 JAK2 3717 HP:0002239 Gastrointestinal hemorrhage OMIM:263300 JAK2 3717 HP:0002240 Hepatomegaly OMIM:263300 JAK2 3717 HP:0001899 Increased hematocrit OMIM:263300 JAK2 3717 HP:0001342 Cerebral hemorrhage OMIM:263300 JAK2 3717 HP:0000006 Autosomal dominant inheritance OMIM:263300 JAK2 3717 HP:0005513 Increased megakaryocyte count OMIM:263300 JAK2 3717 HP:0001898 Increased red blood cell mass OMIM:201810 HSD3B2 3284 HP:0000037 Male pseudohermaphroditism OMIM:201810 HSD3B2 3284 HP:0008221 Adrenal hyperplasia OMIM:201810 HSD3B2 3284 HP:0000047 Hypospadias OMIM:218600 RECQL4 9401 HP:0000545 Myopia OMIM:218600 RECQL4 9401 HP:0000405 Conductive hearing impairment OMIM:218600 RECQL4 9401 HP:0001511 Intrauterine growth retardation OMIM:218600 RECQL4 9401 HP:0000218 High palate OMIM:218600 RECQL4 9401 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:218600 RECQL4 9401 HP:0006443 Patellar aplasia OMIM:218600 RECQL4 9401 HP:0001029 Poikiloderma OMIM:218600 RECQL4 9401 HP:0003974 Absent radius OMIM:218600 RECQL4 9401 HP:0001274 Agenesis of corpus callosum OMIM:218600 RECQL4 9401 HP:0010048 Aplasia of metacarpal bones OMIM:218600 RECQL4 9401 HP:0002023 Anal atresia OMIM:218600 RECQL4 9401 HP:0000238 Hydrocephalus OMIM:218600 RECQL4 9401 HP:0000316 Hypertelorism OMIM:218600 RECQL4 9401 HP:0000286 Epicanthus OMIM:218600 RECQL4 9401 HP:0001671 Abnormality of the cardiac septa OMIM:218600 RECQL4 9401 HP:0002984 Hypoplasia of the radius OMIM:218600 RECQL4 9401 HP:0001545 Anteriorly placed anus OMIM:218600 RECQL4 9401 HP:0000193 Bifid uvula OMIM:218600 RECQL4 9401 HP:0003022 Hypoplasia of the ulna OMIM:218600 RECQL4 9401 HP:0000076 Vesicoureteral reflux OMIM:218600 RECQL4 9401 HP:0004231 Carpal bone aplasia OMIM:218600 RECQL4 9401 HP:0000430 Underdeveloped nasal alae OMIM:218600 RECQL4 9401 HP:0001249 Intellectual disability OMIM:218600 RECQL4 9401 HP:0002996 Limited elbow movement OMIM:218600 RECQL4 9401 HP:0002665 Lymphoma OMIM:218600 RECQL4 9401 HP:0003468 Abnormality of the vertebrae OMIM:218600 RECQL4 9401 HP:0005201 Anomalous splenoportal venous system OMIM:218600 RECQL4 9401 HP:0000426 Prominent nasal bridge OMIM:218600 RECQL4 9401 HP:0000244 Brachyturricephaly OMIM:218600 RECQL4 9401 HP:0005792 Short humerus OMIM:218600 RECQL4 9401 HP:0002564 Malformation of the heart and great vessels OMIM:218600 RECQL4 9401 HP:0010622 Neoplasm of the skeletal system OMIM:218600 RECQL4 9401 HP:0004871 Perineal fistula OMIM:218600 RECQL4 9401 HP:0003031 Ulnar bowing OMIM:218600 RECQL4 9401 HP:0002007 Frontal bossing OMIM:218600 RECQL4 9401 HP:0004397 Ectopic anus OMIM:218600 RECQL4 9401 HP:0000143 Rectovaginal fistula OMIM:218600 RECQL4 9401 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:218600 RECQL4 9401 HP:0004425 Flat forehead OMIM:218600 RECQL4 9401 HP:0002650 Scoliosis OMIM:218600 RECQL4 9401 HP:0003298 Spina bifida occulta OMIM:218600 RECQL4 9401 HP:0002126 Polymicrogyria OMIM:218600 RECQL4 9401 HP:0000007 Autosomal recessive inheritance OMIM:218600 RECQL4 9401 HP:0000160 Narrow mouth OMIM:218600 RECQL4 9401 HP:0000452 Choanal stenosis OMIM:218600 RECQL4 9401 HP:0009924 Aplasia/Hypoplasia involving the nose OMIM:218600 RECQL4 9401 HP:0000486 Strabismus OMIM:218600 RECQL4 9401 HP:0000337 Broad forehead OMIM:218600 RECQL4 9401 HP:0000902 Rib fusion OMIM:218600 RECQL4 9401 HP:0000494 Downslanted palpebral fissures OMIM:218600 RECQL4 9401 HP:0002024 Malabsorption OMIM:218600 RECQL4 9401 HP:0003065 Patellar hypoplasia OMIM:218600 RECQL4 9401 HP:0006487 Bowing of the long bones OMIM:218600 RECQL4 9401 HP:0007452 Midface capillary hemangioma OMIM:218600 RECQL4 9401 HP:0000175 Cleft palate OMIM:218600 RECQL4 9401 HP:0009702 Carpal synostosis OMIM:218600 RECQL4 9401 HP:0005886 Aphalangy of the hands OMIM:218600 RECQL4 9401 HP:0000077 Abnormality of the kidney OMIM:218600 RECQL4 9401 HP:0004322 Short stature OMIM:218600 RECQL4 9401 HP:0004442 Sagittal craniosynostosis OMIM:218600 RECQL4 9401 HP:0000347 Micrognathia OMIM:218600 RECQL4 9401 HP:0006467 Limited shoulder movement OMIM:218600 RECQL4 9401 HP:0001171 Split hand OMIM:218600 RECQL4 9401 HP:0004440 Coronal craniosynostosis OMIM:218600 RECQL4 9401 HP:0000601 Hypotelorism OMIM:218600 RECQL4 9401 HP:0000639 Nystagmus OMIM:218600 RECQL4 9401 HP:0004443 Lambdoidal craniosynostosis OMIM:218600 RECQL4 9401 HP:0100589 Urogenital fistula OMIM:218600 RECQL4 9401 HP:0000446 Narrow nasal bridge OMIM:218600 RECQL4 9401 HP:0000648 Optic atrophy OMIM:218600 RECQL4 9401 HP:0100542 Abnormal localization of kidney OMIM:218600 RECQL4 9401 HP:0011318 Bicoronal synostosis OMIM:218600 RECQL4 9401 HP:0000368 Low-set, posteriorly rotated ears OMIM:218600 RECQL4 9401 HP:0001250 Seizures OMIM:218600 RECQL4 9401 HP:0000520 Proptosis OMIM:218600 RECQL4 9401 HP:0000275 Narrow face OMIM:614915 MYBPC1 4604 HP:0005684 Distal arthrogryposis OMIM:227300 LMAN1 3998 HP:0003225 Reduced factor V activity OMIM:227300 LMAN1 3998 HP:0003125 Reduced factor VIII activity OMIM:227300 LMAN1 3998 HP:0001892 Abnormal bleeding OMIM:227300 LMAN1 3998 HP:0000007 Autosomal recessive inheritance OMIM:600105 CRB1 23418 HP:0000007 Autosomal recessive inheritance OMIM:600105 CRB1 23418 HP:0000510 Retinitis pigmentosa OMIM:301000 WAS 7454 HP:0001983 Reduced lymphocyte surface expression of CD43 (sialophorin) OMIM:301000 WAS 7454 HP:0001287 Meningitis OMIM:301000 WAS 7454 HP:0000979 Purpura OMIM:301000 WAS 7454 HP:0002014 Diarrhea OMIM:301000 WAS 7454 HP:0002249 Melena OMIM:301000 WAS 7454 HP:0001888 Lymphopenia OMIM:301000 WAS 7454 HP:0000421 Epistaxis OMIM:301000 WAS 7454 HP:0002971 Absent microvilli on the surface of peripheral blood lymphocytes OMIM:301000 WAS 7454 HP:0002848 Specific anti-polysaccharide antibody deficiency OMIM:301000 WAS 7454 HP:0005537 Decreased mean platelet volume OMIM:301000 WAS 7454 HP:0005310 Large vessel vasculitis OMIM:301000 WAS 7454 HP:0003010 Prolonged bleeding time OMIM:301000 WAS 7454 HP:0001878 Hemolytic anemia OMIM:301000 WAS 7454 HP:0002963 Abnormal delayed hypersensitivity skin test OMIM:301000 WAS 7454 HP:0000225 Gingival bleeding OMIM:301000 WAS 7454 HP:0000388 Otitis media OMIM:301000 WAS 7454 HP:0000967 Petechiae OMIM:301000 WAS 7454 HP:0000246 Sinusitis OMIM:301000 WAS 7454 HP:0002248 Hematemesis OMIM:301000 WAS 7454 HP:0003212 Increased IgE level OMIM:301000 WAS 7454 HP:0000112 Nephropathy OMIM:301000 WAS 7454 HP:0001419 X-linked recessive inheritance OMIM:301000 WAS 7454 HP:0002850 IgM deficiency OMIM:301000 WAS 7454 HP:0002090 Pneumonia OMIM:301000 WAS 7454 HP:0000964 Eczema OMIM:301000 WAS 7454 HP:0001891 Iron deficiency anemia OMIM:301000 WAS 7454 HP:0002037 Inflammation of the large intestine OMIM:301000 WAS 7454 HP:0001873 Thrombocytopenia OMIM:301000 WAS 7454 HP:0003261 Increased IgA level OMIM:301000 WAS 7454 HP:0002783 Recurrent lower respiratory tract infections OMIM:301000 WAS 7454 HP:0011944 Small vessel vasculitis OMIM:301000 WAS 7454 HP:0002788 Recurrent upper respiratory tract infections OMIM:107741 APOE 348 HP:0001952 Abnormal glucose tolerance OMIM:107741 APOE 348 HP:0002511 Alzheimer disease OMIM:107741 APOE 348 HP:0005299 Premature peripheral vascular disease OMIM:107741 APOE 348 HP:0003124 Hypercholesterolemia OMIM:107741 APOE 348 HP:0001513 Obesity OMIM:107741 APOE 348 HP:0002155 Hypertriglyceridemia OMIM:107741 APOE 348 HP:0000991 Xanthomatosis OMIM:107741 APOE 348 HP:0001681 Angina pectoris OMIM:606854 ADGRG1 9289 HP:0001250 Seizures OMIM:606854 ADGRG1 9289 HP:0000007 Autosomal recessive inheritance OMIM:606854 ADGRG1 9289 HP:0006821 Polymicrogyria, anterior to posterior gradient OMIM:606854 ADGRG1 9289 HP:0000565 Esotropia OMIM:606854 ADGRG1 9289 HP:0001347 Hyperreflexia OMIM:606854 ADGRG1 9289 HP:0007266 Cerebral dysmyelination OMIM:606854 ADGRG1 9289 HP:0007095 Frontoparietal polymicrogyria OMIM:606854 ADGRG1 9289 HP:0001321 Cerebellar hypoplasia OMIM:606854 ADGRG1 9289 HP:0002365 Hypoplasia of the brainstem OMIM:606854 ADGRG1 9289 HP:0011448 Ankle clonus OMIM:606854 ADGRG1 9289 HP:0003487 Babinski sign OMIM:606854 ADGRG1 9289 HP:0001263 Global developmental delay OMIM:606854 ADGRG1 9289 HP:0002136 Broad-based gait OMIM:606854 ADGRG1 9289 HP:0001276 Hypertonia OMIM:606854 ADGRG1 9289 HP:0000577 Exotropia OMIM:606854 ADGRG1 9289 HP:0001249 Intellectual disability OMIM:606854 ADGRG1 9289 HP:0002078 Truncal ataxia OMIM:606854 ADGRG1 9289 HP:0000639 Nystagmus ORPHANET:895 SOX10 6663 HP:0001053 Hypopigmented skin patches ORPHANET:895 SOX10 6663 HP:0000077 Abnormality of the kidney ORPHANET:895 SOX10 6663 HP:0001100 Heterochromia iridis ORPHANET:895 SOX10 6663 HP:0002251 Aganglionic megacolon ORPHANET:895 SOX10 6663 HP:0002216 Premature graying of hair ORPHANET:895 SOX10 6663 HP:0000508 Ptosis ORPHANET:895 SOX10 6663 HP:0004414 Abnormality of the pulmonary artery ORPHANET:895 SOX10 6663 HP:0000407 Sensorineural hearing impairment ORPHANET:895 SOX10 6663 HP:0000506 Telecanthus ORPHANET:895 SOX10 6663 HP:0002211 White forelock ORPHANET:895 MITF 4286 HP:0001053 Hypopigmented skin patches ORPHANET:895 MITF 4286 HP:0000077 Abnormality of the kidney ORPHANET:895 MITF 4286 HP:0001100 Heterochromia iridis ORPHANET:895 MITF 4286 HP:0002251 Aganglionic megacolon ORPHANET:895 MITF 4286 HP:0002216 Premature graying of hair ORPHANET:895 MITF 4286 HP:0000508 Ptosis ORPHANET:895 MITF 4286 HP:0004414 Abnormality of the pulmonary artery ORPHANET:895 MITF 4286 HP:0000407 Sensorineural hearing impairment ORPHANET:895 MITF 4286 HP:0000506 Telecanthus ORPHANET:895 MITF 4286 HP:0002211 White forelock ORPHANET:895 SNAI2 6591 HP:0001053 Hypopigmented skin patches ORPHANET:895 SNAI2 6591 HP:0000077 Abnormality of the kidney ORPHANET:895 SNAI2 6591 HP:0001100 Heterochromia iridis ORPHANET:895 SNAI2 6591 HP:0002251 Aganglionic megacolon ORPHANET:895 SNAI2 6591 HP:0002216 Premature graying of hair ORPHANET:895 SNAI2 6591 HP:0000508 Ptosis ORPHANET:895 SNAI2 6591 HP:0004414 Abnormality of the pulmonary artery ORPHANET:895 SNAI2 6591 HP:0000407 Sensorineural hearing impairment ORPHANET:895 SNAI2 6591 HP:0000506 Telecanthus ORPHANET:895 SNAI2 6591 HP:0002211 White forelock OMIM:608104 ALG8 79053 HP:0001004 Lymphedema OMIM:608104 ALG8 79053 HP:0001399 Hepatic failure OMIM:608104 ALG8 79053 HP:0000518 Cataract OMIM:608104 ALG8 79053 HP:0000091 Abnormality of the renal tubule OMIM:104500 ENAM 10117 HP:0000705 Amelogenesis imperfecta OMIM:104500 ENAM 10117 HP:0000006 Autosomal dominant inheritance OMIM:607748 TJP2 9414 HP:0000007 Autosomal recessive inheritance OMIM:607748 TJP2 9414 HP:0000989 Pruritus OMIM:607748 TJP2 9414 HP:0011892 Vitamin K deficiency OMIM:607748 TJP2 9414 HP:0001508 Failure to thrive OMIM:607748 TJP2 9414 HP:0002748 Rickets OMIM:607748 TJP2 9414 HP:0002570 Steatorrhea OMIM:607748 TJP2 9414 HP:0012202 Increased serum bile acid concentration OMIM:607748 EPHX1 2052 HP:0000007 Autosomal recessive inheritance OMIM:607748 EPHX1 2052 HP:0000989 Pruritus OMIM:607748 EPHX1 2052 HP:0011892 Vitamin K deficiency OMIM:607748 EPHX1 2052 HP:0001508 Failure to thrive OMIM:607748 EPHX1 2052 HP:0002748 Rickets OMIM:607748 EPHX1 2052 HP:0002570 Steatorrhea OMIM:607748 EPHX1 2052 HP:0012202 Increased serum bile acid concentration OMIM:607748 BAAT 570 HP:0000007 Autosomal recessive inheritance OMIM:607748 BAAT 570 HP:0000989 Pruritus OMIM:607748 BAAT 570 HP:0011892 Vitamin K deficiency OMIM:607748 BAAT 570 HP:0001508 Failure to thrive OMIM:607748 BAAT 570 HP:0002748 Rickets OMIM:607748 BAAT 570 HP:0002570 Steatorrhea OMIM:607748 BAAT 570 HP:0012202 Increased serum bile acid concentration OMIM:614898 VPS37A 137492 HP:0000768 Pectus carinatum OMIM:614898 VPS37A 137492 HP:0001258 Spastic paraplegia OMIM:614898 VPS37A 137492 HP:0001288 Gait disturbance OMIM:614898 VPS37A 137492 HP:0000007 Autosomal recessive inheritance OMIM:614898 VPS37A 137492 HP:0000750 Delayed speech and language development OMIM:614898 VPS37A 137492 HP:0002169 Clonus OMIM:614898 VPS37A 137492 HP:0002808 Kyphosis OMIM:614898 VPS37A 137492 HP:0001332 Dystonia OMIM:614898 VPS37A 137492 HP:0001263 Global developmental delay OMIM:614832 C4ORF26 152816 HP:0000007 Autosomal recessive inheritance OMIM:614832 C4ORF26 152816 HP:0006285 Hypomineralization of enamel OMIM:614832 C4ORF26 152816 HP:0000705 Amelogenesis imperfecta OMIM:263200 PKHD1 5314 HP:0000400 Macrotia OMIM:263200 PKHD1 5314 HP:0000083 Renal insufficiency OMIM:263200 PKHD1 5314 HP:0002612 Congenital hepatic fibrosis OMIM:263200 PKHD1 5314 HP:0002040 Esophageal varix OMIM:263200 PKHD1 5314 HP:0002089 Pulmonary hypoplasia OMIM:263200 PKHD1 5314 HP:0008678 Renal hypoplasia/aplasia OMIM:263200 PKHD1 5314 HP:0001732 Abnormality of the pancreas OMIM:263200 PKHD1 5314 HP:0001405 Periportal fibrosis OMIM:263200 PKHD1 5314 HP:0000368 Low-set, posteriorly rotated ears OMIM:263200 PKHD1 5314 HP:0000107 Renal cyst OMIM:263200 PKHD1 5314 HP:0001409 Portal hypertension OMIM:263200 PKHD1 5314 HP:0002009 Potter facies OMIM:263200 PKHD1 5314 HP:0001944 Dehydration OMIM:263200 PKHD1 5314 HP:0001744 Splenomegaly OMIM:263200 PKHD1 5314 HP:0000347 Micrognathia OMIM:263200 PKHD1 5314 HP:0002093 Respiratory insufficiency OMIM:263200 PKHD1 5314 HP:0001080 Biliary tract abnormality OMIM:263200 PKHD1 5314 HP:0005564 Absence of renal corticomedullary differentiation OMIM:263200 PKHD1 5314 HP:0002240 Hepatomegaly OMIM:263200 PKHD1 5314 HP:0000457 Depressed nasal ridge OMIM:263200 PKHD1 5314 HP:0001407 Hepatic cysts OMIM:263200 PKHD1 5314 HP:0100720 Hypoplasia of the ear cartilage OMIM:263200 PKHD1 5314 HP:0003811 Neonatal death OMIM:263200 PKHD1 5314 HP:0000105 Enlarged kidneys OMIM:263200 PKHD1 5314 HP:0000113 Polycystic kidney dysplasia OMIM:263200 PKHD1 5314 HP:0005576 Tubulointerstitial fibrosis OMIM:263200 PKHD1 5314 HP:0001562 Oligohydramnios OMIM:263200 PKHD1 5314 HP:0000007 Autosomal recessive inheritance OMIM:263200 PKHD1 5314 HP:0001737 Pancreatic cysts OMIM:263200 PKHD1 5314 HP:0006706 Cystic liver disease OMIM:611493 KCNE2 9992 HP:0000006 Autosomal dominant inheritance OMIM:611493 KCNE2 9992 HP:0005110 Atrial fibrillation OMIM:615553 SLC35A3 23443 HP:0002827 Hip dislocation OMIM:615553 SLC35A3 23443 HP:0004976 Knee dislocation OMIM:615553 SLC35A3 23443 HP:0001250 Seizures OMIM:615553 SLC35A3 23443 HP:0001249 Intellectual disability OMIM:615553 SLC35A3 23443 HP:0000729 Autistic behavior OMIM:615553 SLC35A3 23443 HP:0000252 Microcephaly OMIM:615553 SLC35A3 23443 HP:0001263 Global developmental delay OMIM:615553 SLC35A3 23443 HP:0001252 Muscular hypotonia OMIM:615553 SLC35A3 23443 HP:0000007 Autosomal recessive inheritance OMIM:615553 SLC35A3 23443 HP:0002804 Arthrogryposis multiplex congenita OMIM:615553 SLC35A3 23443 HP:0100490 Camptodactyly of finger OMIM:615553 SLC35A3 23443 HP:0000308 Microretrognathia OMIM:306955 ZIC3 7547 HP:0001417 X-linked inheritance OMIM:306955 ZIC3 7547 HP:0001629 Ventricular septal defect OMIM:306955 ZIC3 7547 HP:0001748 Polysplenia OMIM:306955 ZIC3 7547 HP:0003363 Abdominal situs inversus OMIM:306955 ZIC3 7547 HP:0001746 Asplenia OMIM:306955 ZIC3 7547 HP:0001642 Pulmonic stenosis OMIM:306955 ZIC3 7547 HP:0001651 Dextrocardia OMIM:306955 ZIC3 7547 HP:0001643 Patent ductus arteriosus OMIM:613251 MYH6 4624 HP:0001639 Hypertrophic cardiomyopathy OMIM:615225 NLRP1 22861 HP:0001036 Parakeratosis OMIM:615225 NLRP1 22861 HP:0000982 Palmoplantar keratoderma OMIM:615225 NLRP1 22861 HP:0008404 Nail dystrophy OMIM:615225 NLRP1 22861 HP:0011496 Corneal neovascularization OMIM:615225 NLRP1 22861 HP:0000968 Ectodermal dysplasia OMIM:615225 NLRP1 22861 HP:0000470 Short neck OMIM:615225 NLRP1 22861 HP:0000006 Autosomal dominant inheritance OMIM:615225 NLRP1 22861 HP:0000343 Long philtrum OMIM:615225 NLRP1 22861 HP:0006094 Finger joint hypermobility OMIM:601678 SLC12A1 6557 HP:0001563 Fetal polyuria OMIM:601678 SLC12A1 6557 HP:0000938 Osteopenia OMIM:601678 SLC12A1 6557 HP:0003113 Hypochloremia OMIM:601678 SLC12A1 6557 HP:0003527 Hyperprostaglandinuria OMIM:601678 SLC12A1 6557 HP:0003081 Increased urinary potassium OMIM:601678 SLC12A1 6557 HP:0001281 Tetany OMIM:601678 SLC12A1 6557 HP:0001622 Premature birth OMIM:601678 SLC12A1 6557 HP:0001249 Intellectual disability OMIM:601678 SLC12A1 6557 HP:0000128 Renal potassium wasting OMIM:601678 SLC12A1 6557 HP:0000111 Renal juxtaglomerular cell hypertrophy/hyperplasia OMIM:601678 SLC12A1 6557 HP:0000103 Polyuria OMIM:601678 SLC12A1 6557 HP:0003394 Muscle cramps OMIM:601678 SLC12A1 6557 HP:0002014 Diarrhea OMIM:601678 SLC12A1 6557 HP:0003324 Generalized muscle weakness OMIM:601678 SLC12A1 6557 HP:0002013 Vomiting OMIM:601678 SLC12A1 6557 HP:0003566 Increased serum prostaglandin E2 OMIM:601678 SLC12A1 6557 HP:0002150 Hypercalciuria OMIM:601678 SLC12A1 6557 HP:0001945 Fever OMIM:601678 SLC12A1 6557 HP:0000848 Increased circulating renin level OMIM:601678 SLC12A1 6557 HP:0000859 Hyperaldosteronism OMIM:601678 SLC12A1 6557 HP:0002900 Hypokalemia OMIM:601678 SLC12A1 6557 HP:0000127 Renal salt wasting OMIM:601678 SLC12A1 6557 HP:0002632 Low-to-normal blood pressure OMIM:601678 SLC12A1 6557 HP:0003401 Paresthesia OMIM:601678 SLC12A1 6557 HP:0002019 Constipation OMIM:601678 SLC12A1 6557 HP:0001508 Failure to thrive OMIM:601678 SLC12A1 6557 HP:0002917 Hypomagnesemia OMIM:601678 SLC12A1 6557 HP:0001561 Polyhydramnios OMIM:601678 SLC12A1 6557 HP:0001944 Dehydration OMIM:601678 SLC12A1 6557 HP:0000934 Chondrocalcinosis OMIM:601678 SLC12A1 6557 HP:0000841 Hyperactive renin-angiotensin system OMIM:601678 SLC12A1 6557 HP:0001263 Global developmental delay OMIM:601678 SLC12A1 6557 HP:0001960 Hypokalemic metabolic alkalosis OMIM:601678 SLC12A1 6557 HP:0002914 Hyperchloridura OMIM:601678 SLC12A1 6557 HP:0000121 Nephrocalcinosis OMIM:601678 SLC12A1 6557 HP:0001250 Seizures OMIM:601678 SLC12A1 6557 HP:0004322 Short stature OMIM:601678 SLC12A1 6557 HP:0001518 Small for gestational age OMIM:601678 SLC12A1 6557 HP:0000007 Autosomal recessive inheritance OMIM:601678 SLC12A1 6557 HP:0003158 Hyposthenuria OMIM:425000 CSF2RA 1438 HP:0001871 Abnormality of blood and blood-forming tissues OMIM:607225 ALS2 57679 HP:0001761 Pes cavus OMIM:607225 ALS2 57679 HP:0002492 Abnormality of the corticospinal tract OMIM:607225 ALS2 57679 HP:0000496 Abnormality of eye movement OMIM:607225 ALS2 57679 HP:0003487 Babinski sign OMIM:607225 ALS2 57679 HP:0005216 Chewing difficulties OMIM:607225 ALS2 57679 HP:0001260 Dysarthria OMIM:607225 ALS2 57679 HP:0000020 Urinary incontinence OMIM:607225 ALS2 57679 HP:0002510 Spastic tetraplegia OMIM:607225 ALS2 57679 HP:0004374 Hemiplegia/hemiparesis OMIM:607225 ALS2 57679 HP:0007256 Abnormal pyramidal signs OMIM:607225 ALS2 57679 HP:0002200 Pseudobulbar signs OMIM:607225 ALS2 57679 HP:0001347 Hyperreflexia OMIM:607225 ALS2 57679 HP:0003676 Progressive disorder OMIM:607225 ALS2 57679 HP:0002167 Neurological speech impairment OMIM:607225 ALS2 57679 HP:0003593 Infantile onset OMIM:607225 ALS2 57679 HP:0001270 Motor delay OMIM:607225 ALS2 57679 HP:0002445 Tetraplegia OMIM:607225 ALS2 57679 HP:0008872 Feeding difficulties in infancy OMIM:607225 ALS2 57679 HP:0001276 Hypertonia OMIM:607225 ALS2 57679 HP:0003677 Slow progression OMIM:607225 ALS2 57679 HP:0000271 Abnormality of the face OMIM:607225 ALS2 57679 HP:0001258 Spastic paraplegia OMIM:607225 ALS2 57679 HP:0002650 Scoliosis OMIM:607225 ALS2 57679 HP:0002425 Anarthria OMIM:607225 ALS2 57679 HP:0001771 Achilles tendon contracture OMIM:607225 ALS2 57679 HP:0001324 Muscle weakness OMIM:607225 ALS2 57679 HP:0002366 Abnormal lower motor neuron morphology OMIM:607225 ALS2 57679 HP:0000478 Abnormality of the eye OMIM:607225 ALS2 57679 HP:0000007 Autosomal recessive inheritance OMIM:615249 POMK 84197 HP:0002650 Scoliosis OMIM:615249 POMK 84197 HP:0000568 Microphthalmos OMIM:615249 POMK 84197 HP:0007260 Type II lissencephaly OMIM:615249 POMK 84197 HP:0001319 Neonatal hypotonia OMIM:615249 POMK 84197 HP:0002465 Poor speech OMIM:615249 POMK 84197 HP:0000252 Microcephaly OMIM:615249 POMK 84197 HP:0011968 Feeding difficulties OMIM:615249 POMK 84197 HP:0002421 Poor head control OMIM:615249 POMK 84197 HP:0000518 Cataract OMIM:615249 POMK 84197 HP:0001250 Seizures OMIM:615249 POMK 84197 HP:0000407 Sensorineural hearing impairment OMIM:615249 POMK 84197 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:615249 POMK 84197 HP:0001321 Cerebellar hypoplasia OMIM:615249 POMK 84197 HP:0000589 Coloboma OMIM:615249 POMK 84197 HP:0001371 Flexion contracture OMIM:615249 POMK 84197 HP:0001090 Large eyes OMIM:615249 POMK 84197 HP:0003560 Muscular dystrophy OMIM:615249 POMK 84197 HP:0001263 Global developmental delay OMIM:615249 POMK 84197 HP:0003236 Elevated serum creatine phosphokinase OMIM:615249 POMK 84197 HP:0001274 Agenesis of corpus callosum OMIM:615249 POMK 84197 HP:0002365 Hypoplasia of the brainstem OMIM:615249 POMK 84197 HP:0000238 Hydrocephalus OMIM:615249 POMK 84197 HP:0000505 Visual impairment OMIM:615249 POMK 84197 HP:0000546 Retinal degeneration OMIM:608840 LARGE 9215 HP:0000666 Horizontal nystagmus OMIM:608840 LARGE 9215 HP:0010628 Facial palsy OMIM:608840 LARGE 9215 HP:0001252 Muscular hypotonia OMIM:608840 LARGE 9215 HP:0002518 Abnormality of the periventricular white matter OMIM:608840 LARGE 9215 HP:0002987 Elbow flexion contracture OMIM:608840 LARGE 9215 HP:0001263 Global developmental delay OMIM:608840 LARGE 9215 HP:0000654 Decreased electroretinogram (ERG) amplitude OMIM:608840 LARGE 9215 HP:0002187 Intellectual disability, profound OMIM:608840 LARGE 9215 HP:0003560 Muscular dystrophy OMIM:608840 LARGE 9215 HP:0003593 Infantile onset OMIM:608840 LARGE 9215 HP:0002395 Lower limb hyperreflexia OMIM:608840 LARGE 9215 HP:0003458 EMG: myopathic abnormalities OMIM:608840 LARGE 9215 HP:0002365 Hypoplasia of the brainstem OMIM:608840 LARGE 9215 HP:0003741 Congenital muscular dystrophy OMIM:608840 LARGE 9215 HP:0001270 Motor delay OMIM:608840 LARGE 9215 HP:0000158 Macroglossia OMIM:608840 LARGE 9215 HP:0001321 Cerebellar hypoplasia OMIM:608840 LARGE 9215 HP:0003236 Elevated serum creatine phosphokinase OMIM:608840 LARGE 9215 HP:0001302 Pachygyria OMIM:608840 LARGE 9215 HP:0004322 Short stature OMIM:608840 LARGE 9215 HP:0009473 Joint contracture of the hand OMIM:608840 LARGE 9215 HP:0003701 Proximal muscle weakness OMIM:608840 LARGE 9215 HP:0001771 Achilles tendon contracture OMIM:608840 LARGE 9215 HP:0003487 Babinski sign OMIM:608840 LARGE 9215 HP:0002269 Abnormality of neuronal migration OMIM:608840 LARGE 9215 HP:0000007 Autosomal recessive inheritance OMIM:206800 RSPO4 343637 HP:0000007 Autosomal recessive inheritance OMIM:206800 RSPO4 343637 HP:0001798 Anonychia OMIM:255700 CLCN1 1180 HP:0008968 Muscle hypertrophy of the lower extremities OMIM:255700 CLCN1 1180 HP:0003326 Myalgia OMIM:255700 CLCN1 1180 HP:0011463 Childhood onset OMIM:255700 CLCN1 1180 HP:0000007 Autosomal recessive inheritance OMIM:255700 CLCN1 1180 HP:0010548 Percussion myotonia OMIM:255700 CLCN1 1180 HP:0002015 Dysphagia OMIM:255700 CLCN1 1180 HP:0003730 EMG: myotonic runs OMIM:255700 CLCN1 1180 HP:0001324 Muscle weakness OMIM:255700 CLCN1 1180 HP:0003740 Myotonia with warm-up phenomenon OMIM:255700 CLCN1 1180 HP:0003712 Skeletal muscle hypertrophy OMIM:255700 CLCN1 1180 HP:0003812 Phenotypic variability OMIM:255700 CLCN1 1180 HP:0003552 Muscle stiffness OMIM:153480 PTEN 5728 HP:0004099 Macrodactyly OMIM:153480 PTEN 5728 HP:0000486 Strabismus OMIM:153480 PTEN 5728 HP:0001048 Cavernous hemangioma OMIM:153480 PTEN 5728 HP:0000957 Cafe-au-lait spot OMIM:153480 PTEN 5728 HP:0001012 Multiple lipomas OMIM:153480 PTEN 5728 HP:0001163 Abnormality of the metacarpal bones OMIM:153480 PTEN 5728 HP:0002652 Skeletal dysplasia OMIM:153480 PTEN 5728 HP:0002007 Frontal bossing OMIM:153480 PTEN 5728 HP:0000036 Abnormality of the penis OMIM:153480 PTEN 5728 HP:0002558 Supernumerary nipple OMIM:153480 PTEN 5728 HP:0001724 Aortic dilatation OMIM:153480 PTEN 5728 HP:0002573 Hematochezia OMIM:153480 PTEN 5728 HP:0002576 Intussusception OMIM:153480 PTEN 5728 HP:0001252 Muscular hypotonia OMIM:153480 PTEN 5728 HP:0001677 Coronary artery disease OMIM:153480 PTEN 5728 HP:0000463 Anteverted nares OMIM:153480 PTEN 5728 HP:0000750 Delayed speech and language development OMIM:153480 PTEN 5728 HP:0100761 Visceral angiomatosis OMIM:153480 PTEN 5728 HP:0001943 Hypoglycemia OMIM:153480 PTEN 5728 HP:0200008 Intestinal polyposis OMIM:153480 PTEN 5728 HP:0000646 Amblyopia OMIM:153480 PTEN 5728 HP:0000006 Autosomal dominant inheritance OMIM:153480 PTEN 5728 HP:0001034 Hypermelanotic macule OMIM:153480 PTEN 5728 HP:0000872 Hashimoto thyroiditis OMIM:153480 PTEN 5728 HP:0002027 Abdominal pain OMIM:153480 PTEN 5728 HP:0001014 Angiokeratoma OMIM:153480 PTEN 5728 HP:0000256 Macrocephaly OMIM:153480 PTEN 5728 HP:0002170 Intracranial hemorrhage OMIM:153480 PTEN 5728 HP:0000268 Dolichocephaly OMIM:153480 PTEN 5728 HP:0000347 Micrognathia OMIM:153480 PTEN 5728 HP:0003198 Myopathy OMIM:153480 PTEN 5728 HP:0007873 Abnormally prominent line of Schwalbe OMIM:153480 PTEN 5728 HP:0000494 Downslanted palpebral fissures OMIM:153480 PTEN 5728 HP:0000956 Acanthosis nigricans OMIM:153480 PTEN 5728 HP:0001513 Obesity OMIM:153480 PTEN 5728 HP:0000505 Visual impairment OMIM:153480 PTEN 5728 HP:0001028 Hemangioma OMIM:153480 PTEN 5728 HP:0012032 Lipoma OMIM:153480 PTEN 5728 HP:0000400 Macrotia OMIM:153480 PTEN 5728 HP:0000648 Optic atrophy OMIM:153480 PTEN 5728 HP:0002858 Meningioma OMIM:153480 PTEN 5728 HP:0100013 Neoplasm of the breast OMIM:153480 PTEN 5728 HP:0000767 Pectus excavatum OMIM:153480 PTEN 5728 HP:0100641 Neoplasm of the adrenal cortex OMIM:153480 PTEN 5728 HP:0003517 Birth length greater than 97th percentile OMIM:153480 PTEN 5728 HP:0001382 Joint hypermobility OMIM:153480 PTEN 5728 HP:0004322 Short stature OMIM:153480 PTEN 5728 HP:0007074 Thick corpus callosum OMIM:153480 PTEN 5728 HP:0004325 Decreased body weight OMIM:153480 PTEN 5728 HP:0008897 Postnatal growth retardation OMIM:153480 PTEN 5728 HP:0000538 Pseudopapilledema OMIM:153480 PTEN 5728 HP:0000343 Long philtrum OMIM:153480 PTEN 5728 HP:0003621 Juvenile onset OMIM:153480 PTEN 5728 HP:0002650 Scoliosis OMIM:153480 PTEN 5728 HP:0001324 Muscle weakness OMIM:153480 PTEN 5728 HP:0009726 Renal neoplasm OMIM:153480 PTEN 5728 HP:0004390 Hamartomatous polyposis OMIM:153480 PTEN 5728 HP:0005214 Intestinal obstruction OMIM:153480 PTEN 5728 HP:0001250 Seizures OMIM:153480 PTEN 5728 HP:0100585 Teleangiectasia of the skin OMIM:153480 PTEN 5728 HP:0009602 Abnormality of thumb phalanx OMIM:153480 PTEN 5728 HP:0000965 Cutis marmorata OMIM:153480 PTEN 5728 HP:0100543 Cognitive impairment OMIM:153480 PTEN 5728 HP:0003196 Short nose OMIM:153480 PTEN 5728 HP:0002239 Gastrointestinal hemorrhage OMIM:153480 PTEN 5728 HP:0002194 Delayed gross motor development OMIM:153480 PTEN 5728 HP:0010784 Uterine neoplasm OMIM:153480 PTEN 5728 HP:0100031 Neoplasm of the thyroid gland OMIM:153480 PTEN 5728 HP:0001249 Intellectual disability OMIM:153480 PTEN 5728 HP:0100646 Thyroiditis OMIM:153480 PTEN 5728 HP:0000218 High palate OMIM:153480 PTEN 5728 HP:0000174 Abnormality of the palate OMIM:153480 PTEN 5728 HP:0001004 Lymphedema OMIM:153480 PTEN 5728 HP:0002167 Neurological speech impairment OMIM:153480 PTEN 5728 HP:0000717 Autism OMIM:153480 PTEN 5728 HP:0001928 Abnormality of coagulation OMIM:153480 PTEN 5728 HP:0000040 Long penis OMIM:153480 PTEN 5728 HP:0000098 Tall stature OMIM:153480 PTEN 5728 HP:0100026 Arteriovenous malformation OMIM:207800 ARG1 383 HP:0001249 Intellectual disability OMIM:207800 ARG1 383 HP:0001250 Seizures OMIM:207800 ARG1 383 HP:0000737 Irritability OMIM:207800 ARG1 383 HP:0002013 Vomiting OMIM:207800 ARG1 383 HP:0003218 Oroticaciduria OMIM:207800 ARG1 383 HP:0008897 Postnatal growth retardation OMIM:207800 ARG1 383 HP:0002478 Progressive spastic quadriplegia OMIM:207800 ARG1 383 HP:0000708 Behavioral abnormality OMIM:207800 ARG1 383 HP:0001987 Hyperammonemia OMIM:207800 ARG1 383 HP:0004374 Hemiplegia/hemiparesis OMIM:207800 ARG1 383 HP:0000007 Autosomal recessive inheritance OMIM:207800 ARG1 383 HP:0100543 Cognitive impairment OMIM:207800 ARG1 383 HP:0002167 Neurological speech impairment OMIM:207800 ARG1 383 HP:0008339 Diaminoaciduria OMIM:207800 ARG1 383 HP:0002353 EEG abnormality OMIM:207800 ARG1 383 HP:0003355 Aminoaciduria OMIM:207800 ARG1 383 HP:0001263 Global developmental delay OMIM:207800 ARG1 383 HP:0002039 Anorexia OMIM:207800 ARG1 383 HP:0000752 Hyperactivity OMIM:603829 SCN5A 6331 HP:0001663 Ventricular fibrillation OMIM:610217 PLA2G6 8398 HP:0001884 Talipes calcaneovalgus OMIM:610217 PLA2G6 8398 HP:0002180 Neurodegeneration OMIM:610217 PLA2G6 8398 HP:0002072 Chorea OMIM:610217 PLA2G6 8398 HP:0002015 Dysphagia OMIM:610217 PLA2G6 8398 HP:0002067 Bradykinesia OMIM:610217 PLA2G6 8398 HP:0002066 Gait ataxia OMIM:610217 PLA2G6 8398 HP:0011968 Feeding difficulties OMIM:610217 PLA2G6 8398 HP:0001268 Mental deterioration OMIM:610217 PLA2G6 8398 HP:0002080 Intention tremor OMIM:610217 PLA2G6 8398 HP:0002075 Dysdiadochokinesis OMIM:610217 PLA2G6 8398 HP:0001310 Dysmetria OMIM:610217 PLA2G6 8398 HP:0001260 Dysarthria OMIM:610217 PLA2G6 8398 HP:0001257 Spasticity OMIM:610217 PLA2G6 8398 HP:0001250 Seizures OMIM:610217 PLA2G6 8398 HP:0000752 Hyperactivity OMIM:610217 PLA2G6 8398 HP:0007772 Impaired smooth pursuit OMIM:610217 PLA2G6 8398 HP:0100710 Impulsivity OMIM:610217 PLA2G6 8398 HP:0003487 Babinski sign OMIM:610217 PLA2G6 8398 HP:0000750 Delayed speech and language development OMIM:610217 PLA2G6 8398 HP:0000639 Nystagmus OMIM:610217 PLA2G6 8398 HP:0002059 Cerebral atrophy OMIM:610217 PLA2G6 8398 HP:0003812 Phenotypic variability OMIM:610217 PLA2G6 8398 HP:0000712 Emotional lability OMIM:610217 PLA2G6 8398 HP:0000007 Autosomal recessive inheritance OMIM:610217 PLA2G6 8398 HP:0001332 Dystonia OMIM:610217 PLA2G6 8398 HP:0001272 Cerebellar atrophy OMIM:610217 PLA2G6 8398 HP:0000648 Optic atrophy OMIM:610217 PLA2G6 8398 HP:0000736 Short attention span OMIM:610217 PLA2G6 8398 HP:0003676 Progressive disorder OMIM:610217 PLA2G6 8398 HP:0002185 Neurofibrillary tangles OMIM:608470 TGFBI 7045 HP:0200020 Corneal erosion OMIM:608470 TGFBI 7045 HP:0007759 Opacification of the corneal stroma OMIM:608470 TGFBI 7045 HP:0000006 Autosomal dominant inheritance OMIM:608470 TGFBI 7045 HP:0001131 Corneal dystrophy OMIM:608470 TGFBI 7045 HP:0000613 Photophobia OMIM:608470 TGFBI 7045 HP:0000486 Strabismus OMIM:302960 EBP 10682 HP:0003462 Elevated 8-dehydrocholesterol OMIM:302960 EBP 10682 HP:0000365 Hearing impairment OMIM:302960 EBP 10682 HP:0002777 Tracheal stenosis OMIM:302960 EBP 10682 HP:0000272 Malar flattening OMIM:302960 EBP 10682 HP:0000765 Abnormality of the thorax OMIM:302960 EBP 10682 HP:0003465 Elevated 8(9)-cholestenol OMIM:302960 EBP 10682 HP:0001231 Abnormality of the fingernails OMIM:302960 EBP 10682 HP:0000653 Sparse eyelashes OMIM:302960 EBP 10682 HP:0000494 Downslanted palpebral fissures OMIM:302960 EBP 10682 HP:0001508 Failure to thrive OMIM:302960 EBP 10682 HP:0000501 Glaucoma OMIM:302960 EBP 10682 HP:0003828 Variable expressivity OMIM:302960 EBP 10682 HP:0007431 Congenital ichthyosiform erythroderma OMIM:302960 EBP 10682 HP:0100555 Asymmetric growth OMIM:302960 EBP 10682 HP:0000126 Hydronephrosis OMIM:302960 EBP 10682 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:302960 EBP 10682 HP:0100556 Hemiatrophy OMIM:302960 EBP 10682 HP:0011120 Concave nasal ridge OMIM:302960 EBP 10682 HP:0000377 Abnormality of the pinna OMIM:302960 EBP 10682 HP:0010669 Cheekbone underdevelopment OMIM:302960 EBP 10682 HP:0002007 Frontal bossing OMIM:302960 EBP 10682 HP:0011362 Abnormal hair quantity OMIM:302960 EBP 10682 HP:0000648 Optic atrophy OMIM:302960 EBP 10682 HP:0000518 Cataract OMIM:302960 EBP 10682 HP:0008897 Postnatal growth retardation OMIM:302960 EBP 10682 HP:0003272 Abnormality of the hip bone OMIM:302960 EBP 10682 HP:0008065 Aplasia/Hypoplasia of the skin OMIM:302960 EBP 10682 HP:0000508 Ptosis OMIM:302960 EBP 10682 HP:0001596 Alopecia OMIM:302960 EBP 10682 HP:0001829 Foot polydactyly OMIM:302960 EBP 10682 HP:0100259 Postaxial polydactyly OMIM:302960 EBP 10682 HP:0003312 Abnormal form of the vertebral bodies OMIM:302960 EBP 10682 HP:0009826 Limb undergrowth OMIM:302960 EBP 10682 HP:0000470 Short neck OMIM:302960 EBP 10682 HP:0010719 Abnormality of hair texture OMIM:302960 EBP 10682 HP:0001883 Talipes OMIM:302960 EBP 10682 HP:0001367 Abnormal joint morphology OMIM:302960 EBP 10682 HP:0001423 X-linked dominant inheritance OMIM:302960 EBP 10682 HP:0004241 Stippled calcification in carpal bones OMIM:302960 EBP 10682 HP:0012368 Flat face OMIM:302960 EBP 10682 HP:0002999 Patellar dislocation OMIM:302960 EBP 10682 HP:0000286 Epicanthus OMIM:302960 EBP 10682 HP:0001776 Bilateral talipes equinovarus OMIM:302960 EBP 10682 HP:0000535 Sparse eyebrow OMIM:302960 EBP 10682 HP:0002650 Scoliosis OMIM:302960 EBP 10682 HP:0003577 Congenital onset OMIM:302960 EBP 10682 HP:0000969 Edema OMIM:302960 EBP 10682 HP:0001019 Erythroderma OMIM:302960 EBP 10682 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:302960 EBP 10682 HP:0004209 Clinodactyly of the 5th finger OMIM:302960 EBP 10682 HP:0002937 Hemivertebrae OMIM:302960 EBP 10682 HP:0008420 Punctate vertebral calcifications OMIM:302960 EBP 10682 HP:0001305 Dandy-Walker malformation OMIM:302960 EBP 10682 HP:0002342 Intellectual disability, moderate OMIM:302960 EBP 10682 HP:0008064 Ichthyosis OMIM:302960 EBP 10682 HP:0000164 Abnormality of the teeth OMIM:302960 EBP 10682 HP:0000407 Sensorineural hearing impairment OMIM:302960 EBP 10682 HP:0008131 Tarsal stippling OMIM:302960 EBP 10682 HP:0001561 Polyhydramnios OMIM:302960 EBP 10682 HP:0000482 Microcornea OMIM:302960 EBP 10682 HP:0002808 Kyphosis OMIM:302960 EBP 10682 HP:0000568 Microphthalmos OMIM:302960 EBP 10682 HP:0000639 Nystagmus OMIM:302960 EBP 10682 HP:0004322 Short stature OMIM:302960 EBP 10682 HP:0002787 Tracheal calcification OMIM:302960 EBP 10682 HP:0010655 Epiphyseal stippling OMIM:128101 TUBB4A 10382 HP:0002451 Limb dystonia OMIM:128101 TUBB4A 10382 HP:0002066 Gait ataxia OMIM:128101 TUBB4A 10382 HP:0000473 Torticollis OMIM:128101 TUBB4A 10382 HP:0001304 Torsion dystonia OMIM:128101 TUBB4A 10382 HP:0000006 Autosomal dominant inheritance OMIM:128101 TUBB4A 10382 HP:0001618 Dysphonia OMIM:128101 TUBB4A 10382 HP:0007325 Generalized dystonia OMIM:128101 TUBB4A 10382 HP:0009938 Sunken cheeks OMIM:128101 TUBB4A 10382 HP:0000275 Narrow face OMIM:128101 TUBB4A 10382 HP:0002015 Dysphagia OMIM:132810 EPHX1 2052 HP:0000006 Autosomal dominant inheritance OMIM:132810 EPHX1 2052 HP:0001939 Abnormality of metabolism/homeostasis OMIM:603373 TSHR 7253 HP:0000836 Hyperthyroidism OMIM:603373 TSHR 7253 HP:0000006 Autosomal dominant inheritance OMIM:603373 TSHR 7253 HP:0012188 Hyperemesis gravidarum OMIM:229700 FBP1 2203 HP:0002094 Dyspnea OMIM:229700 FBP1 2203 HP:0000007 Autosomal recessive inheritance OMIM:229700 FBP1 2203 HP:0001649 Tachycardia OMIM:229700 FBP1 2203 HP:0002883 Hyperventilation OMIM:229700 FBP1 2203 HP:0001943 Hypoglycemia OMIM:229700 FBP1 2203 HP:0000737 Irritability OMIM:229700 FBP1 2203 HP:0001946 Ketosis OMIM:229700 FBP1 2203 HP:0001945 Fever OMIM:229700 FBP1 2203 HP:0001254 Lethargy OMIM:229700 FBP1 2203 HP:0002104 Apnea OMIM:229700 FBP1 2203 HP:0002240 Hepatomegaly OMIM:229700 FBP1 2203 HP:0001250 Seizures OMIM:229700 FBP1 2203 HP:0001252 Muscular hypotonia OMIM:229700 FBP1 2203 HP:0001259 Coma OMIM:229700 FBP1 2203 HP:0001942 Metabolic acidosis OMIM:261515 HSD17B4 3295 HP:0000348 High forehead OMIM:261515 HSD17B4 3295 HP:0001999 Abnormal facial shape OMIM:261515 HSD17B4 3295 HP:0000007 Autosomal recessive inheritance OMIM:261515 HSD17B4 3295 HP:0001408 Bile duct proliferation OMIM:261515 HSD17B4 3295 HP:0002119 Ventriculomegaly OMIM:261515 HSD17B4 3295 HP:0001263 Global developmental delay OMIM:261515 HSD17B4 3295 HP:0000278 Retrognathia OMIM:261515 HSD17B4 3295 HP:0000767 Pectus excavatum OMIM:261515 HSD17B4 3295 HP:0000369 Low-set ears OMIM:261515 HSD17B4 3295 HP:0002910 Elevated hepatic transaminases OMIM:261515 HSD17B4 3295 HP:0000270 Delayed cranial suture closure OMIM:261515 HSD17B4 3295 HP:0001171 Split hand OMIM:261515 HSD17B4 3295 HP:0002079 Hypoplasia of the corpus callosum OMIM:261515 HSD17B4 3295 HP:0000486 Strabismus OMIM:261515 HSD17B4 3295 HP:0001765 Hammertoe OMIM:261515 HSD17B4 3295 HP:0007058 Generalized cerebral atrophy/hypoplasia OMIM:261515 HSD17B4 3295 HP:0001561 Polyhydramnios OMIM:261515 HSD17B4 3295 HP:0008207 Primary adrenal insufficiency OMIM:261515 HSD17B4 3295 HP:0000762 Decreased nerve conduction velocity OMIM:261515 HSD17B4 3295 HP:0005257 Thoracic hypoplasia OMIM:261515 HSD17B4 3295 HP:0000218 High palate OMIM:261515 HSD17B4 3295 HP:0001762 Talipes equinovarus OMIM:261515 HSD17B4 3295 HP:0000286 Epicanthus OMIM:261515 HSD17B4 3295 HP:0001250 Seizures OMIM:261515 HSD17B4 3295 HP:0002240 Hepatomegaly OMIM:261515 HSD17B4 3295 HP:0000268 Dolichocephaly OMIM:261515 HSD17B4 3295 HP:0000347 Micrognathia OMIM:261515 HSD17B4 3295 HP:0008872 Feeding difficulties in infancy OMIM:261515 HSD17B4 3295 HP:0001791 Fetal ascites OMIM:261515 HSD17B4 3295 HP:0003199 Decreased muscle mass OMIM:261515 HSD17B4 3295 HP:0000938 Osteopenia OMIM:261515 HSD17B4 3295 HP:0000239 Large fontanelles OMIM:261515 HSD17B4 3295 HP:0002007 Frontal bossing OMIM:261515 HSD17B4 3295 HP:0000316 Hypertelorism OMIM:261515 HSD17B4 3295 HP:0002750 Delayed skeletal maturation OMIM:261515 HSD17B4 3295 HP:0002539 Cortical dysplasia OMIM:261515 HSD17B4 3295 HP:0002832 Calcific stippling OMIM:261515 HSD17B4 3295 HP:0002171 Gliosis OMIM:261515 HSD17B4 3295 HP:0007371 Corpus callosum atrophy OMIM:261515 HSD17B4 3295 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:261515 HSD17B4 3295 HP:0007266 Cerebral dysmyelination OMIM:261515 HSD17B4 3295 HP:0001397 Hepatic steatosis OMIM:261515 HSD17B4 3295 HP:0001396 Cholestasis OMIM:261515 HSD17B4 3295 HP:0000639 Nystagmus OMIM:261515 HSD17B4 3295 HP:0006872 Cerebral hypoplasia OMIM:261515 HSD17B4 3295 HP:0002126 Polymicrogyria OMIM:261515 HSD17B4 3295 HP:0000256 Macrocephaly OMIM:261515 HSD17B4 3295 HP:0000550 Abolished electroretinogram (ERG) OMIM:261515 HSD17B4 3295 HP:0001319 Neonatal hypotonia OMIM:261515 HSD17B4 3295 HP:0005280 Depressed nasal bridge OMIM:261515 HSD17B4 3295 HP:0000107 Renal cyst OMIM:261515 HSD17B4 3295 HP:0000343 Long philtrum OMIM:261515 HSD17B4 3295 HP:0001508 Failure to thrive OMIM:261515 HSD17B4 3295 HP:0000572 Visual loss OMIM:261515 HSD17B4 3295 HP:0003593 Infantile onset OMIM:261515 HSD17B4 3295 HP:0000582 Upslanted palpebral fissure OMIM:615285 VPS45 11311 HP:0001508 Failure to thrive OMIM:615285 VPS45 11311 HP:0001875 Neutropenia OMIM:615285 VPS45 11311 HP:0000007 Autosomal recessive inheritance OMIM:615285 VPS45 11311 HP:0001744 Splenomegaly OMIM:615285 VPS45 11311 HP:0001978 Extramedullary hematopoiesis OMIM:615285 VPS45 11311 HP:0001263 Global developmental delay OMIM:615285 VPS45 11311 HP:0010702 Hypergammaglobulinemia OMIM:615285 VPS45 11311 HP:0002240 Hepatomegaly OMIM:615285 VPS45 11311 HP:0003593 Infantile onset OMIM:615285 VPS45 11311 HP:0001903 Anemia OMIM:615285 VPS45 11311 HP:0001882 Leukopenia OMIM:615285 VPS45 11311 HP:0001873 Thrombocytopenia OMIM:612437 PRICKLE1 144165 HP:0003676 Progressive disorder OMIM:612437 PRICKLE1 144165 HP:0003390 Sensory axonal neuropathy OMIM:612437 PRICKLE1 144165 HP:0001337 Tremor OMIM:612437 PRICKLE1 144165 HP:0002123 Generalized myoclonic seizures OMIM:612437 PRICKLE1 144165 HP:0001260 Dysarthria OMIM:612437 PRICKLE1 144165 HP:0000007 Autosomal recessive inheritance OMIM:612437 PRICKLE1 144165 HP:0001310 Dysmetria OMIM:612437 PRICKLE1 144165 HP:0010819 Atonic seizures OMIM:612437 PRICKLE1 144165 HP:0003487 Babinski sign OMIM:609285 TPM2 7169 HP:0000006 Autosomal dominant inheritance OMIM:609285 TPM2 7169 HP:0000467 Neck muscle weakness OMIM:609285 TPM2 7169 HP:0001265 Hyporeflexia OMIM:609285 TPM2 7169 HP:0003803 Type 1 muscle fiber predominance OMIM:609285 TPM2 7169 HP:0001349 Facial diplegia OMIM:609285 TPM2 7169 HP:0002751 Kyphoscoliosis OMIM:609285 TPM2 7169 HP:0002058 Myopathic facies OMIM:609285 TPM2 7169 HP:0003202 Skeletal muscle atrophy OMIM:609285 TPM2 7169 HP:0001371 Flexion contracture OMIM:609285 TPM2 7169 HP:0002515 Waddling gait OMIM:609285 TPM2 7169 HP:0002355 Difficulty walking OMIM:609285 TPM2 7169 HP:0003828 Variable expressivity OMIM:609285 TPM2 7169 HP:0000218 High palate OMIM:609285 TPM2 7169 HP:0003690 Limb muscle weakness OMIM:609285 TPM2 7169 HP:0003691 Scapular winging OMIM:609285 TPM2 7169 HP:0001252 Muscular hypotonia OMIM:609285 TPM2 7169 HP:0008872 Feeding difficulties in infancy OMIM:609285 TPM2 7169 HP:0003391 Gowers sign OMIM:609285 TPM2 7169 HP:0002792 Reduced vital capacity OMIM:609285 TPM2 7169 HP:0001270 Motor delay OMIM:609285 TPM2 7169 HP:0003798 Nemaline bodies OMIM:612577 FIG4 9896 HP:0003202 Skeletal muscle atrophy OMIM:612577 FIG4 9896 HP:0007354 Amyotrophic lateral sclerosis OMIM:612577 FIG4 9896 HP:0000006 Autosomal dominant inheritance OMIM:612577 FIG4 9896 HP:0002493 Upper motor neuron dysfunction OMIM:607174 MN1 4330 HP:0002858 Meningioma OMIM:607174 MN1 4330 HP:0003581 Adult onset OMIM:607174 MN1 4330 HP:0000006 Autosomal dominant inheritance OMIM:607174 MN1 4330 HP:0003829 Incomplete penetrance OMIM:607174 PDGFB 5155 HP:0002858 Meningioma OMIM:607174 PDGFB 5155 HP:0003581 Adult onset OMIM:607174 PDGFB 5155 HP:0000006 Autosomal dominant inheritance OMIM:607174 PDGFB 5155 HP:0003829 Incomplete penetrance OMIM:607174 NF2 4771 HP:0002858 Meningioma OMIM:607174 NF2 4771 HP:0003581 Adult onset OMIM:607174 NF2 4771 HP:0000006 Autosomal dominant inheritance OMIM:607174 NF2 4771 HP:0003829 Incomplete penetrance OMIM:614326 MIR17HG 407975 HP:0004322 Short stature OMIM:614326 MIR17HG 407975 HP:0000006 Autosomal dominant inheritance OMIM:614326 MIR17HG 407975 HP:0000252 Microcephaly OMIM:614326 MIR17HG 407975 HP:0001156 Brachydactyly syndrome OMIM:614326 MIR17HG 407975 HP:0005819 Short middle phalanx of finger OMIM:614326 MIR17HG 407975 HP:0009778 Short thumb OMIM:614326 MIR17HG 407975 HP:0001249 Intellectual disability OMIM:608758 MYL2 4633 HP:0005144 Left ventricular septal hypertrophy OMIM:608758 MYL2 4633 HP:0000006 Autosomal dominant inheritance OMIM:608758 MYL2 4633 HP:0004756 Ventricular tachycardia OMIM:608758 MYL2 4633 HP:0001639 Hypertrophic cardiomyopathy OMIM:204750 DHTKD1 55526 HP:0001263 Global developmental delay OMIM:204750 DHTKD1 55526 HP:0000750 Delayed speech and language development OMIM:204750 DHTKD1 55526 HP:0007018 Attention deficit hyperactivity disorder OMIM:204750 DHTKD1 55526 HP:0000252 Microcephaly OMIM:204750 DHTKD1 55526 HP:0000007 Autosomal recessive inheritance OMIM:204750 DHTKD1 55526 HP:0003355 Aminoaciduria OMIM:204750 DHTKD1 55526 HP:0001256 Intellectual disability, mild OMIM:204750 DHTKD1 55526 HP:0001252 Muscular hypotonia ORPHANET:3318 JAK2 3717 HP:0001744 Splenomegaly ORPHANET:3318 JAK2 3717 HP:0005561 Abnormality of bone marrow cell morphology ORPHANET:3318 JAK2 3717 HP:0003401 Paresthesia ORPHANET:3318 JAK2 3717 HP:0002863 Myelodysplasia ORPHANET:3318 JAK2 3717 HP:0002637 Cerebral ischemia ORPHANET:3318 JAK2 3717 HP:0001872 Abnormality of thrombocytes ORPHANET:3318 JAK2 3717 HP:0004420 Arterial thrombosis ORPHANET:3318 JAK2 3717 HP:0100749 Chest pain ORPHANET:3318 JAK2 3717 HP:0100576 Amaurosis fugax ORPHANET:3318 JAK2 3717 HP:0002488 Acute leukemia ORPHANET:3318 JAK2 3717 HP:0001928 Abnormality of coagulation ORPHANET:3318 JAK2 3717 HP:0001677 Coronary artery disease ORPHANET:3318 JAK2 3717 HP:0004418 Thrombophlebitis ORPHANET:3318 MPL 4352 HP:0001744 Splenomegaly ORPHANET:3318 MPL 4352 HP:0005561 Abnormality of bone marrow cell morphology ORPHANET:3318 MPL 4352 HP:0003401 Paresthesia ORPHANET:3318 MPL 4352 HP:0002863 Myelodysplasia ORPHANET:3318 MPL 4352 HP:0002637 Cerebral ischemia ORPHANET:3318 MPL 4352 HP:0001872 Abnormality of thrombocytes ORPHANET:3318 MPL 4352 HP:0004420 Arterial thrombosis ORPHANET:3318 MPL 4352 HP:0100749 Chest pain ORPHANET:3318 MPL 4352 HP:0100576 Amaurosis fugax ORPHANET:3318 MPL 4352 HP:0002488 Acute leukemia ORPHANET:3318 MPL 4352 HP:0001928 Abnormality of coagulation ORPHANET:3318 MPL 4352 HP:0001677 Coronary artery disease ORPHANET:3318 MPL 4352 HP:0004418 Thrombophlebitis ORPHANET:3318 TET2 54790 HP:0001744 Splenomegaly ORPHANET:3318 TET2 54790 HP:0005561 Abnormality of bone marrow cell morphology ORPHANET:3318 TET2 54790 HP:0003401 Paresthesia ORPHANET:3318 TET2 54790 HP:0002863 Myelodysplasia ORPHANET:3318 TET2 54790 HP:0002637 Cerebral ischemia ORPHANET:3318 TET2 54790 HP:0001872 Abnormality of thrombocytes ORPHANET:3318 TET2 54790 HP:0004420 Arterial thrombosis ORPHANET:3318 TET2 54790 HP:0100749 Chest pain ORPHANET:3318 TET2 54790 HP:0100576 Amaurosis fugax ORPHANET:3318 TET2 54790 HP:0002488 Acute leukemia ORPHANET:3318 TET2 54790 HP:0001928 Abnormality of coagulation ORPHANET:3318 TET2 54790 HP:0001677 Coronary artery disease ORPHANET:3318 TET2 54790 HP:0004418 Thrombophlebitis ORPHANET:3318 TP53 7157 HP:0001744 Splenomegaly ORPHANET:3318 TP53 7157 HP:0005561 Abnormality of bone marrow cell morphology ORPHANET:3318 TP53 7157 HP:0003401 Paresthesia ORPHANET:3318 TP53 7157 HP:0002863 Myelodysplasia ORPHANET:3318 TP53 7157 HP:0002637 Cerebral ischemia ORPHANET:3318 TP53 7157 HP:0001872 Abnormality of thrombocytes ORPHANET:3318 TP53 7157 HP:0004420 Arterial thrombosis ORPHANET:3318 TP53 7157 HP:0100749 Chest pain ORPHANET:3318 TP53 7157 HP:0100576 Amaurosis fugax ORPHANET:3318 TP53 7157 HP:0002488 Acute leukemia ORPHANET:3318 TP53 7157 HP:0001928 Abnormality of coagulation ORPHANET:3318 TP53 7157 HP:0001677 Coronary artery disease ORPHANET:3318 TP53 7157 HP:0004418 Thrombophlebitis ORPHANET:3318 SH2B3 10019 HP:0001744 Splenomegaly ORPHANET:3318 SH2B3 10019 HP:0005561 Abnormality of bone marrow cell morphology ORPHANET:3318 SH2B3 10019 HP:0003401 Paresthesia ORPHANET:3318 SH2B3 10019 HP:0002863 Myelodysplasia ORPHANET:3318 SH2B3 10019 HP:0002637 Cerebral ischemia ORPHANET:3318 SH2B3 10019 HP:0001872 Abnormality of thrombocytes ORPHANET:3318 SH2B3 10019 HP:0004420 Arterial thrombosis ORPHANET:3318 SH2B3 10019 HP:0100749 Chest pain ORPHANET:3318 SH2B3 10019 HP:0100576 Amaurosis fugax ORPHANET:3318 SH2B3 10019 HP:0002488 Acute leukemia ORPHANET:3318 SH2B3 10019 HP:0001928 Abnormality of coagulation ORPHANET:3318 SH2B3 10019 HP:0001677 Coronary artery disease ORPHANET:3318 SH2B3 10019 HP:0004418 Thrombophlebitis ORPHANET:3318 CALR 811 HP:0001744 Splenomegaly ORPHANET:3318 CALR 811 HP:0005561 Abnormality of bone marrow cell morphology ORPHANET:3318 CALR 811 HP:0003401 Paresthesia ORPHANET:3318 CALR 811 HP:0002863 Myelodysplasia ORPHANET:3318 CALR 811 HP:0002637 Cerebral ischemia ORPHANET:3318 CALR 811 HP:0001872 Abnormality of thrombocytes ORPHANET:3318 CALR 811 HP:0004420 Arterial thrombosis ORPHANET:3318 CALR 811 HP:0100749 Chest pain ORPHANET:3318 CALR 811 HP:0100576 Amaurosis fugax ORPHANET:3318 CALR 811 HP:0002488 Acute leukemia ORPHANET:3318 CALR 811 HP:0001928 Abnormality of coagulation ORPHANET:3318 CALR 811 HP:0001677 Coronary artery disease ORPHANET:3318 CALR 811 HP:0004418 Thrombophlebitis OMIM:104530 LAMB3 3914 HP:0000679 Taurodontia OMIM:104530 LAMB3 3914 HP:0006311 Generalized microdontia OMIM:104530 LAMB3 3914 HP:0000705 Amelogenesis imperfecta OMIM:104530 LAMB3 3914 HP:0000006 Autosomal dominant inheritance OMIM:606003 TALDO1 6888 HP:0000007 Autosomal recessive inheritance OMIM:606003 TALDO1 6888 HP:0001680 Coarctation of aorta OMIM:606003 TALDO1 6888 HP:0001394 Cirrhosis OMIM:606003 TALDO1 6888 HP:0001433 Hepatosplenomegaly OMIM:606003 TALDO1 6888 HP:0000057 Clitoromegaly OMIM:606003 TALDO1 6888 HP:0001009 Telangiectasia OMIM:611383 DFNB31 25861 HP:0000007 Autosomal recessive inheritance OMIM:611383 DFNB31 25861 HP:0000510 Retinitis pigmentosa OMIM:611383 DFNB31 25861 HP:0000365 Hearing impairment OMIM:615842 ZMYND15 84225 HP:0000027 Azoospermia OMIM:613646 CD320 51293 HP:0000007 Autosomal recessive inheritance OMIM:613646 CD320 51293 HP:0012120 Methylmalonic aciduria OMIM:611590 SLC4A1 6521 HP:0000007 Autosomal recessive inheritance OMIM:611590 SLC4A1 6521 HP:0008341 Distal renal tubular acidosis OMIM:611590 SLC4A1 6521 HP:0002748 Rickets OMIM:611590 SLC4A1 6521 HP:0000121 Nephrocalcinosis OMIM:611590 SLC4A1 6521 HP:0001942 Metabolic acidosis OMIM:611590 SLC4A1 6521 HP:0001508 Failure to thrive OMIM:611615 FKTN 2218 HP:0000007 Autosomal recessive inheritance OMIM:611615 FKTN 2218 HP:0003701 Proximal muscle weakness OMIM:611615 FKTN 2218 HP:0001644 Dilated cardiomyopathy OMIM:602450 DCLRE1C 64421 HP:0001508 Failure to thrive OMIM:602450 DCLRE1C 64421 HP:0000388 Otitis media OMIM:602450 DCLRE1C 64421 HP:0003249 Genital ulcers OMIM:602450 DCLRE1C 64421 HP:0005359 Aplasia of the thymus OMIM:602450 DCLRE1C 64421 HP:0004430 Severe combined immunodeficiency OMIM:602450 DCLRE1C 64421 HP:0003139 Panhypogammaglobulinemia OMIM:602450 DCLRE1C 64421 HP:0000007 Autosomal recessive inheritance OMIM:602450 DCLRE1C 64421 HP:0002732 Lymph node hypoplasia OMIM:602450 DCLRE1C 64421 HP:0002014 Diarrhea OMIM:602450 DCLRE1C 64421 HP:0002090 Pneumonia OMIM:602450 DCLRE1C 64421 HP:0000155 Oral ulcer OMIM:602450 DCLRE1C 64421 HP:0002788 Recurrent upper respiratory tract infections OMIM:125370 ATN1 1822 HP:0001250 Seizures OMIM:125370 ATN1 1822 HP:0007047 Atrophy of the dentate nucleus OMIM:125370 ATN1 1822 HP:0002072 Chorea OMIM:125370 ATN1 1822 HP:0001266 Choreoathetosis OMIM:125370 ATN1 1822 HP:0000639 Nystagmus OMIM:125370 ATN1 1822 HP:0000006 Autosomal dominant inheritance OMIM:125370 ATN1 1822 HP:0010878 Fetal cystic hygroma OMIM:125370 ATN1 1822 HP:0007256 Abnormal pyramidal signs OMIM:125370 ATN1 1822 HP:0003743 Genetic anticipation OMIM:125370 ATN1 1822 HP:0000726 Dementia OMIM:125370 ATN1 1822 HP:0001251 Ataxia OMIM:125370 ATN1 1822 HP:0001336 Myoclonus OMIM:602501 PIK3CA 5290 HP:0001382 Joint hypermobility OMIM:602501 PIK3CA 5290 HP:0001548 Overgrowth OMIM:602501 PIK3CA 5290 HP:0002007 Frontal bossing OMIM:602501 PIK3CA 5290 HP:0100761 Visceral angiomatosis OMIM:602501 PIK3CA 5290 HP:0000965 Cutis marmorata OMIM:602501 PIK3CA 5290 HP:0001249 Intellectual disability OMIM:602501 PIK3CA 5290 HP:0000293 Full cheeks OMIM:602501 PIK3CA 5290 HP:0001770 Toe syndactyly OMIM:602501 PIK3CA 5290 HP:0005280 Depressed nasal bridge OMIM:602501 PIK3CA 5290 HP:0000286 Epicanthus OMIM:602501 PIK3CA 5290 HP:0001159 Syndactyly OMIM:602501 PIK3CA 5290 HP:0000648 Optic atrophy OMIM:602501 PIK3CA 5290 HP:0100555 Asymmetric growth OMIM:602501 PIK3CA 5290 HP:0001909 Leukemia OMIM:602501 PIK3CA 5290 HP:0000494 Downslanted palpebral fissures OMIM:602501 PIK3CA 5290 HP:0000324 Facial asymmetry OMIM:602501 PIK3CA 5290 HP:0001629 Ventricular septal defect OMIM:602501 PIK3CA 5290 HP:0000316 Hypertelorism OMIM:602501 PIK3CA 5290 HP:0000238 Hydrocephalus OMIM:602501 PIK3CA 5290 HP:0002389 Cavum septum pellucidum OMIM:602501 PIK3CA 5290 HP:0000154 Wide mouth OMIM:602501 PIK3CA 5290 HP:0100026 Arteriovenous malformation OMIM:602501 PIK3CA 5290 HP:0100790 Hernia OMIM:602501 PIK3CA 5290 HP:0001252 Muscular hypotonia OMIM:602501 PIK3CA 5290 HP:0100543 Cognitive impairment OMIM:602501 PIK3CA 5290 HP:0001161 Hand polydactyly OMIM:602501 PIK3CA 5290 HP:0001428 Somatic mutation OMIM:602501 PIK3CA 5290 HP:0000568 Microphthalmos OMIM:602501 PIK3CA 5290 HP:0002308 Arnold-Chiari malformation OMIM:602501 PIK3CA 5290 HP:0001388 Joint laxity OMIM:602501 PIK3CA 5290 HP:0000256 Macrocephaly OMIM:602501 PIK3CA 5290 HP:0009748 Large earlobe OMIM:602501 PIK3CA 5290 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:602501 PIK3CA 5290 HP:0000348 High forehead OMIM:602501 PIK3CA 5290 HP:0000337 Broad forehead OMIM:602501 PIK3CA 5290 HP:0001355 Megalencephaly OMIM:602501 PIK3CA 5290 HP:0002858 Meningioma OMIM:602501 PIK3CA 5290 HP:0002564 Malformation of the heart and great vessels OMIM:602501 PIK3CA 5290 HP:0002637 Cerebral ischemia OMIM:602501 PIK3CA 5290 HP:0002119 Ventriculomegaly OMIM:602501 PIK3CA 5290 HP:0002126 Polymicrogyria OMIM:602501 PIK3CA 5290 HP:0100585 Teleangiectasia of the skin OMIM:602501 PIK3CA 5290 HP:0010442 Polydactyly OMIM:602501 PIK3CA 5290 HP:0002667 Nephroblastoma (Wilms tumor) OMIM:602501 PIK3CA 5290 HP:0001829 Foot polydactyly OMIM:602501 PIK3CA 5290 HP:0011675 Arrhythmia OMIM:602501 PIK3CA 5290 HP:0000490 Deeply set eye OMIM:602501 PIK3CA 5290 HP:0006101 Finger syndactyly OMIM:602501 PIK3CA 5290 HP:0001250 Seizures OMIM:602501 PIK3CA 5290 HP:0004481 Progressive macrocephaly OMIM:602501 PIK3CA 5290 HP:0000319 Smooth philtrum OMIM:602501 PIK3CA 5290 HP:0003745 Sporadic OMIM:602501 PIK3CA 5290 HP:0001034 Hypermelanotic macule OMIM:602501 PIK3CA 5290 HP:0001263 Global developmental delay OMIM:602501 PIK3CA 5290 HP:0002269 Abnormality of neuronal migration OMIM:259720 OSTM1 28962 HP:0030328 Decreased osteoclast count OMIM:259720 OSTM1 28962 HP:0003826 Stillbirth OMIM:259720 OSTM1 28962 HP:0001939 Abnormality of metabolism/homeostasis OMIM:259720 OSTM1 28962 HP:0000238 Hydrocephalus OMIM:259720 OSTM1 28962 HP:0011002 Osteopetrosis OMIM:259720 OSTM1 28962 HP:0000007 Autosomal recessive inheritance OMIM:214950 AMACR 23600 HP:0002630 Fat malabsorption OMIM:214950 AMACR 23600 HP:0003256 Abnormality of the coagulation cascade OMIM:214950 AMACR 23600 HP:0006579 Prolonged neonatal jaundice OMIM:214950 AMACR 23600 HP:0002910 Elevated hepatic transaminases OMIM:214950 AMACR 23600 HP:0003623 Neonatal onset OMIM:214950 AMACR 23600 HP:0001406 Intrahepatic cholestasis OMIM:214950 AMACR 23600 HP:0002904 Hyperbilirubinemia OMIM:214950 AMACR 23600 HP:0001399 Hepatic failure OMIM:214950 AMACR 23600 HP:0200084 Giant cell hepatitis OMIM:214950 AMACR 23600 HP:0000007 Autosomal recessive inheritance OMIM:214950 AMACR 23600 HP:0002240 Hepatomegaly OMIM:214950 AMACR 23600 HP:0001508 Failure to thrive ORPHANET:1980 SLC20A2 6575 HP:0002514 Cerebral calcification ORPHANET:1980 SLC20A2 6575 HP:0001250 Seizures ORPHANET:1980 SLC20A2 6575 HP:0007759 Opacification of the corneal stroma ORPHANET:1980 SLC20A2 6575 HP:0002119 Ventriculomegaly ORPHANET:1980 SLC20A2 6575 HP:0001873 Thrombocytopenia ORPHANET:1980 SLC20A2 6575 HP:0000252 Microcephaly ORPHANET:1980 SLC20A2 6575 HP:0002269 Abnormality of neuronal migration ORPHANET:1980 SLC20A2 6575 HP:0001933 Subcutaneous hemorrhage ORPHANET:1980 SLC20A2 6575 HP:0001511 Intrauterine growth retardation ORPHANET:1980 SLC20A2 6575 HP:0002240 Hepatomegaly ORPHANET:1980 PDGFB 5155 HP:0002514 Cerebral calcification ORPHANET:1980 PDGFB 5155 HP:0001250 Seizures ORPHANET:1980 PDGFB 5155 HP:0007759 Opacification of the corneal stroma ORPHANET:1980 PDGFB 5155 HP:0002119 Ventriculomegaly ORPHANET:1980 PDGFB 5155 HP:0001873 Thrombocytopenia ORPHANET:1980 PDGFB 5155 HP:0000252 Microcephaly ORPHANET:1980 PDGFB 5155 HP:0002269 Abnormality of neuronal migration ORPHANET:1980 PDGFB 5155 HP:0001933 Subcutaneous hemorrhage ORPHANET:1980 PDGFB 5155 HP:0001511 Intrauterine growth retardation ORPHANET:1980 PDGFB 5155 HP:0002240 Hepatomegaly ORPHANET:1980 PDGFRB 5159 HP:0002514 Cerebral calcification ORPHANET:1980 PDGFRB 5159 HP:0001250 Seizures ORPHANET:1980 PDGFRB 5159 HP:0007759 Opacification of the corneal stroma ORPHANET:1980 PDGFRB 5159 HP:0002119 Ventriculomegaly ORPHANET:1980 PDGFRB 5159 HP:0001873 Thrombocytopenia ORPHANET:1980 PDGFRB 5159 HP:0000252 Microcephaly ORPHANET:1980 PDGFRB 5159 HP:0002269 Abnormality of neuronal migration ORPHANET:1980 PDGFRB 5159 HP:0001933 Subcutaneous hemorrhage ORPHANET:1980 PDGFRB 5159 HP:0001511 Intrauterine growth retardation ORPHANET:1980 PDGFRB 5159 HP:0002240 Hepatomegaly OMIM:205400 ABCA1 19 HP:0011096 Peripheral demyelination OMIM:205400 ABCA1 19 HP:0010829 Impaired temperature sensation OMIM:205400 ABCA1 19 HP:0001349 Facial diplegia OMIM:205400 ABCA1 19 HP:0003477 Peripheral axonal neuropathy OMIM:205400 ABCA1 19 HP:0007759 Opacification of the corneal stroma OMIM:205400 ABCA1 19 HP:0003693 Distal amyotrophy OMIM:205400 ABCA1 19 HP:0002164 Nail dysplasia OMIM:205400 ABCA1 19 HP:0007328 Impaired pain sensation OMIM:205400 ABCA1 19 HP:0001744 Splenomegaly OMIM:205400 ABCA1 19 HP:0000505 Visual impairment OMIM:205400 ABCA1 19 HP:0001712 Left ventricular hypertrophy OMIM:205400 ABCA1 19 HP:0002240 Hepatomegaly OMIM:205400 ABCA1 19 HP:0008404 Nail dystrophy OMIM:205400 ABCA1 19 HP:0003233 Hypoalphalipoproteinemia OMIM:205400 ABCA1 19 HP:0000656 Ectropion OMIM:205400 ABCA1 19 HP:0000007 Autosomal recessive inheritance OMIM:205400 ABCA1 19 HP:0001265 Hyporeflexia OMIM:205400 ABCA1 19 HP:0001658 Myocardial infarction OMIM:205400 ABCA1 19 HP:0000958 Dry skin ORPHANET:250984 COL9A3 1299 HP:0004322 Short stature ORPHANET:250984 COL9A3 1299 HP:0007703 Abnormal retinal pigmentation ORPHANET:250984 COL9A3 1299 HP:0000483 Astigmatism ORPHANET:250984 COL9A3 1299 HP:0000488 Retinopathy ORPHANET:250984 COL9A3 1299 HP:0000505 Visual impairment ORPHANET:250984 COL9A3 1299 HP:0000926 Platyspondyly ORPHANET:250984 COL9A3 1299 HP:0001382 Joint hypermobility ORPHANET:250984 COL9A3 1299 HP:0004327 Abnormality of the vitreous humor ORPHANET:250984 COL9A3 1299 HP:0000545 Myopia ORPHANET:250984 COL9A3 1299 HP:0002857 Genu valgum ORPHANET:250984 COL9A3 1299 HP:0000272 Malar flattening ORPHANET:250984 COL9A3 1299 HP:0005930 Abnormality of epiphysis morphology ORPHANET:250984 COL9A3 1299 HP:0002652 Skeletal dysplasia ORPHANET:250984 COL9A3 1299 HP:0000407 Sensorineural hearing impairment ORPHANET:250984 COL9A2 1298 HP:0004322 Short stature ORPHANET:250984 COL9A2 1298 HP:0007703 Abnormal retinal pigmentation ORPHANET:250984 COL9A2 1298 HP:0000483 Astigmatism ORPHANET:250984 COL9A2 1298 HP:0000488 Retinopathy ORPHANET:250984 COL9A2 1298 HP:0000505 Visual impairment ORPHANET:250984 COL9A2 1298 HP:0000926 Platyspondyly ORPHANET:250984 COL9A2 1298 HP:0001382 Joint hypermobility ORPHANET:250984 COL9A2 1298 HP:0004327 Abnormality of the vitreous humor ORPHANET:250984 COL9A2 1298 HP:0000545 Myopia ORPHANET:250984 COL9A2 1298 HP:0002857 Genu valgum ORPHANET:250984 COL9A2 1298 HP:0000272 Malar flattening ORPHANET:250984 COL9A2 1298 HP:0005930 Abnormality of epiphysis morphology ORPHANET:250984 COL9A2 1298 HP:0002652 Skeletal dysplasia ORPHANET:250984 COL9A2 1298 HP:0000407 Sensorineural hearing impairment ORPHANET:250984 COL9A1 1297 HP:0004322 Short stature ORPHANET:250984 COL9A1 1297 HP:0007703 Abnormal retinal pigmentation ORPHANET:250984 COL9A1 1297 HP:0000483 Astigmatism ORPHANET:250984 COL9A1 1297 HP:0000488 Retinopathy ORPHANET:250984 COL9A1 1297 HP:0000505 Visual impairment ORPHANET:250984 COL9A1 1297 HP:0000926 Platyspondyly ORPHANET:250984 COL9A1 1297 HP:0001382 Joint hypermobility ORPHANET:250984 COL9A1 1297 HP:0004327 Abnormality of the vitreous humor ORPHANET:250984 COL9A1 1297 HP:0000545 Myopia ORPHANET:250984 COL9A1 1297 HP:0002857 Genu valgum ORPHANET:250984 COL9A1 1297 HP:0000272 Malar flattening ORPHANET:250984 COL9A1 1297 HP:0005930 Abnormality of epiphysis morphology ORPHANET:250984 COL9A1 1297 HP:0002652 Skeletal dysplasia ORPHANET:250984 COL9A1 1297 HP:0000407 Sensorineural hearing impairment ORPHANET:250984 COL11A1 1301 HP:0004322 Short stature ORPHANET:250984 COL11A1 1301 HP:0007703 Abnormal retinal pigmentation ORPHANET:250984 COL11A1 1301 HP:0000483 Astigmatism ORPHANET:250984 COL11A1 1301 HP:0000488 Retinopathy ORPHANET:250984 COL11A1 1301 HP:0000505 Visual impairment ORPHANET:250984 COL11A1 1301 HP:0000926 Platyspondyly ORPHANET:250984 COL11A1 1301 HP:0001382 Joint hypermobility ORPHANET:250984 COL11A1 1301 HP:0004327 Abnormality of the vitreous humor ORPHANET:250984 COL11A1 1301 HP:0000545 Myopia ORPHANET:250984 COL11A1 1301 HP:0002857 Genu valgum ORPHANET:250984 COL11A1 1301 HP:0000272 Malar flattening ORPHANET:250984 COL11A1 1301 HP:0005930 Abnormality of epiphysis morphology ORPHANET:250984 COL11A1 1301 HP:0002652 Skeletal dysplasia ORPHANET:250984 COL11A1 1301 HP:0000407 Sensorineural hearing impairment ORPHANET:251066 ANK1 286 HP:0000639 Nystagmus ORPHANET:251066 ANK1 286 HP:0005280 Depressed nasal bridge ORPHANET:251066 ANK1 286 HP:0000383 Abnormality of periauricular region ORPHANET:251066 ANK1 286 HP:0001631 Defect in the atrial septum ORPHANET:251066 ANK1 286 HP:0000830 Anterior hypopituitarism ORPHANET:251066 ANK1 286 HP:0004322 Short stature ORPHANET:251066 ANK1 286 HP:0004408 Abnormality of the sense of smell ORPHANET:251066 ANK1 286 HP:0000316 Hypertelorism ORPHANET:251066 ANK1 286 HP:0001633 Abnormality of the mitral valve ORPHANET:251066 ANK1 286 HP:0000960 Sacral dimple ORPHANET:251066 ANK1 286 HP:0000582 Upslanted palpebral fissure ORPHANET:251066 ANK1 286 HP:0008736 Hypoplasia of penis ORPHANET:251066 ANK1 286 HP:0000581 Blepharophimosis ORPHANET:251066 ANK1 286 HP:0000482 Microcornea ORPHANET:251066 ANK1 286 HP:0000772 Abnormality of the ribs ORPHANET:251066 ANK1 286 HP:0100543 Cognitive impairment ORPHANET:251066 ANK1 286 HP:0000174 Abnormality of the palate ORPHANET:251066 ANK1 286 HP:0000025 Functional abnormality of male internal genitalia ORPHANET:251066 ANK1 286 HP:0000347 Micrognathia ORPHANET:251066 ANK1 286 HP:0000286 Epicanthus ORPHANET:251066 ANK1 286 HP:0001643 Patent ductus arteriosus ORPHANET:251066 ANK1 286 HP:0001878 Hemolytic anemia ORPHANET:251066 ANK1 286 HP:0008572 External ear malformation ORPHANET:251066 ANK1 286 HP:0001883 Talipes ORPHANET:251066 ANK1 286 HP:0000028 Cryptorchidism ORPHANET:251066 ANK1 286 HP:0001744 Splenomegaly ORPHANET:251066 ANK1 286 HP:0000532 Chorioretinal abnormality ORPHANET:251066 ANK1 286 HP:0001250 Seizures ORPHANET:251066 ANK1 286 HP:0000612 Iris coloboma ORPHANET:251066 ANK1 286 HP:0000252 Microcephaly OMIM:130060 COL1A2 1278 HP:0000006 Autosomal dominant inheritance OMIM:130060 COL1A2 1278 HP:0001623 Breech presentation OMIM:130060 COL1A2 1278 HP:0004299 Hernia of the abdominal wall OMIM:130060 COL1A2 1278 HP:0001382 Joint hypermobility OMIM:130060 COL1A2 1278 HP:0000316 Hypertelorism OMIM:130060 COL1A2 1278 HP:0001373 Joint dislocation OMIM:130060 COL1A2 1278 HP:0000974 Hyperextensible skin OMIM:130060 COL1A2 1278 HP:0000963 Thin skin OMIM:130060 COL1A2 1278 HP:0002194 Delayed gross motor development OMIM:130060 COL1A2 1278 HP:0001252 Muscular hypotonia OMIM:130060 COL1A2 1278 HP:0003088 Premature osteoarthritis OMIM:130060 COL1A2 1278 HP:0003272 Abnormality of the hip bone OMIM:130060 COL1A2 1278 HP:0004349 Reduced bone mineral density OMIM:130060 COL1A2 1278 HP:0003502 Mild short stature OMIM:130060 COL1A2 1278 HP:0000286 Epicanthus OMIM:130060 COL1A2 1278 HP:0002650 Scoliosis OMIM:130060 COL1A2 1278 HP:0000272 Malar flattening OMIM:130060 COL1A2 1278 HP:0000347 Micrognathia OMIM:130060 COL1A2 1278 HP:0005280 Depressed nasal bridge OMIM:130060 COL1A2 1278 HP:0002808 Kyphosis OMIM:130060 COL1A2 1278 HP:0001058 Poor wound healing OMIM:130060 COL1A2 1278 HP:0001388 Joint laxity OMIM:130060 COL1A2 1278 HP:0001376 Limitation of joint mobility OMIM:130060 COL1A2 1278 HP:0001324 Muscle weakness OMIM:130060 COL1A2 1278 HP:0000987 Atypical scarring of skin OMIM:130060 COL1A2 1278 HP:0011800 Midface retrusion OMIM:130060 COL1A2 1278 HP:0000978 Bruising susceptibility OMIM:130060 COL1A2 1278 HP:0008780 Congenital bilateral hip dislocation OMIM:130060 COL1A2 1278 HP:0002659 Increased susceptibility to fractures OMIM:130060 COL1A2 1278 HP:0000977 Soft skin OMIM:130060 COL1A2 1278 HP:0002167 Neurological speech impairment OMIM:130060 COL1A2 1278 HP:0004322 Short stature OMIM:130060 COL1A2 1278 HP:0001075 Atrophic scars OMIM:130060 COL1A2 1278 HP:0000938 Osteopenia OMIM:130060 COL1A1 1277 HP:0000006 Autosomal dominant inheritance OMIM:130060 COL1A1 1277 HP:0001623 Breech presentation OMIM:130060 COL1A1 1277 HP:0004299 Hernia of the abdominal wall OMIM:130060 COL1A1 1277 HP:0001382 Joint hypermobility OMIM:130060 COL1A1 1277 HP:0000316 Hypertelorism OMIM:130060 COL1A1 1277 HP:0001373 Joint dislocation OMIM:130060 COL1A1 1277 HP:0000974 Hyperextensible skin OMIM:130060 COL1A1 1277 HP:0000963 Thin skin OMIM:130060 COL1A1 1277 HP:0002194 Delayed gross motor development OMIM:130060 COL1A1 1277 HP:0001252 Muscular hypotonia OMIM:130060 COL1A1 1277 HP:0003088 Premature osteoarthritis OMIM:130060 COL1A1 1277 HP:0003272 Abnormality of the hip bone OMIM:130060 COL1A1 1277 HP:0004349 Reduced bone mineral density OMIM:130060 COL1A1 1277 HP:0003502 Mild short stature OMIM:130060 COL1A1 1277 HP:0000286 Epicanthus OMIM:130060 COL1A1 1277 HP:0002650 Scoliosis OMIM:130060 COL1A1 1277 HP:0000272 Malar flattening OMIM:130060 COL1A1 1277 HP:0000347 Micrognathia OMIM:130060 COL1A1 1277 HP:0005280 Depressed nasal bridge OMIM:130060 COL1A1 1277 HP:0002808 Kyphosis OMIM:130060 COL1A1 1277 HP:0001058 Poor wound healing OMIM:130060 COL1A1 1277 HP:0001388 Joint laxity OMIM:130060 COL1A1 1277 HP:0001376 Limitation of joint mobility OMIM:130060 COL1A1 1277 HP:0001324 Muscle weakness OMIM:130060 COL1A1 1277 HP:0000987 Atypical scarring of skin OMIM:130060 COL1A1 1277 HP:0011800 Midface retrusion OMIM:130060 COL1A1 1277 HP:0000978 Bruising susceptibility OMIM:130060 COL1A1 1277 HP:0008780 Congenital bilateral hip dislocation OMIM:130060 COL1A1 1277 HP:0002659 Increased susceptibility to fractures OMIM:130060 COL1A1 1277 HP:0000977 Soft skin OMIM:130060 COL1A1 1277 HP:0002167 Neurological speech impairment OMIM:130060 COL1A1 1277 HP:0004322 Short stature OMIM:130060 COL1A1 1277 HP:0001075 Atrophic scars OMIM:130060 COL1A1 1277 HP:0000938 Osteopenia ORPHANET:2518 TUBGCP6 85378 HP:0000648 Optic atrophy ORPHANET:2518 TUBGCP6 85378 HP:0000252 Microcephaly ORPHANET:2518 TUBGCP6 85378 HP:0007703 Abnormal retinal pigmentation ORPHANET:2518 TUBGCP6 85378 HP:0002650 Scoliosis ORPHANET:2518 TUBGCP6 85378 HP:0000505 Visual impairment ORPHANET:2518 TUBGCP6 85378 HP:0000486 Strabismus ORPHANET:2518 TUBGCP6 85378 HP:0100543 Cognitive impairment ORPHANET:2518 TUBGCP6 85378 HP:0000377 Abnormality of the pinna ORPHANET:2518 TUBGCP6 85378 HP:0001250 Seizures ORPHANET:2518 TUBGCP6 85378 HP:0000340 Sloping forehead ORPHANET:2518 TUBGCP6 85378 HP:0002120 Cerebral cortical atrophy ORPHANET:2518 TUBGCP6 85378 HP:0001276 Hypertonia ORPHANET:2518 TUBGCP6 85378 HP:0000463 Anteverted nares ORPHANET:2518 TUBGCP6 85378 HP:0000307 Pointed chin ORPHANET:2518 TUBGCP6 85378 HP:0002269 Abnormality of neuronal migration ORPHANET:2518 TUBGCP6 85378 HP:0001511 Intrauterine growth retardation ORPHANET:2518 TUBGCP6 85378 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2518 TUBGCP6 85378 HP:0004322 Short stature ORPHANET:2518 TUBGCP6 85378 HP:0000341 Narrow forehead ORPHANET:2518 TUBGCP6 85378 HP:0000639 Nystagmus ORPHANET:2518 TUBGCP6 85378 HP:0000499 Abnormality of the eyelashes ORPHANET:2518 TUBGCP4 27229 HP:0000648 Optic atrophy ORPHANET:2518 TUBGCP4 27229 HP:0000252 Microcephaly ORPHANET:2518 TUBGCP4 27229 HP:0007703 Abnormal retinal pigmentation ORPHANET:2518 TUBGCP4 27229 HP:0002650 Scoliosis ORPHANET:2518 TUBGCP4 27229 HP:0000505 Visual impairment ORPHANET:2518 TUBGCP4 27229 HP:0000486 Strabismus ORPHANET:2518 TUBGCP4 27229 HP:0100543 Cognitive impairment ORPHANET:2518 TUBGCP4 27229 HP:0000377 Abnormality of the pinna ORPHANET:2518 TUBGCP4 27229 HP:0001250 Seizures ORPHANET:2518 TUBGCP4 27229 HP:0000340 Sloping forehead ORPHANET:2518 TUBGCP4 27229 HP:0002120 Cerebral cortical atrophy ORPHANET:2518 TUBGCP4 27229 HP:0001276 Hypertonia ORPHANET:2518 TUBGCP4 27229 HP:0000463 Anteverted nares ORPHANET:2518 TUBGCP4 27229 HP:0000307 Pointed chin ORPHANET:2518 TUBGCP4 27229 HP:0002269 Abnormality of neuronal migration ORPHANET:2518 TUBGCP4 27229 HP:0001511 Intrauterine growth retardation ORPHANET:2518 TUBGCP4 27229 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2518 TUBGCP4 27229 HP:0004322 Short stature ORPHANET:2518 TUBGCP4 27229 HP:0000341 Narrow forehead ORPHANET:2518 TUBGCP4 27229 HP:0000639 Nystagmus ORPHANET:2518 TUBGCP4 27229 HP:0000499 Abnormality of the eyelashes OMIM:615113 ALDH1A3 220 HP:0000541 Retinal detachment OMIM:615113 ALDH1A3 220 HP:0000568 Microphthalmos OMIM:615113 ALDH1A3 220 HP:0000007 Autosomal recessive inheritance OMIM:615113 ALDH1A3 220 HP:0000589 Coloboma OMIM:615113 ALDH1A3 220 HP:0000609 Optic nerve hypoplasia OMIM:613933 ACACA 31 HP:0000007 Autosomal recessive inheritance OMIM:613933 ACACA 31 HP:0001252 Muscular hypotonia OMIM:613933 ACACA 31 HP:0003198 Myopathy OMIM:613933 ACACA 31 HP:0001510 Growth delay OMIM:608232 BCR 613 HP:0004848 Ph-positive acute lymphoblastic leukemia OMIM:608232 BCR 613 HP:0001428 Somatic mutation OMIM:608232 BCR 613 HP:0005506 Chronic myelogenous leukemia OMIM:256050 SLC26A2 1836 HP:0000175 Cleft palate OMIM:256050 SLC26A2 1836 HP:0000272 Malar flattening OMIM:256050 SLC26A2 1836 HP:0000926 Platyspondyly OMIM:256050 SLC26A2 1836 HP:0001939 Abnormality of metabolism/homeostasis OMIM:256050 SLC26A2 1836 HP:0000470 Short neck OMIM:256050 SLC26A2 1836 HP:0002089 Pulmonary hypoplasia OMIM:256050 SLC26A2 1836 HP:0002650 Scoliosis OMIM:256050 SLC26A2 1836 HP:0005819 Short middle phalanx of finger OMIM:256050 SLC26A2 1836 HP:0005257 Thoracic hypoplasia OMIM:256050 SLC26A2 1836 HP:0003180 Flat acetabular roof OMIM:256050 SLC26A2 1836 HP:0002947 Cervical kyphosis OMIM:256050 SLC26A2 1836 HP:0003826 Stillbirth OMIM:256050 SLC26A2 1836 HP:0001852 Sandal gap OMIM:256050 SLC26A2 1836 HP:0002093 Respiratory insufficiency OMIM:256050 SLC26A2 1836 HP:0002938 Lumbar hyperlordosis OMIM:256050 SLC26A2 1836 HP:0005280 Depressed nasal bridge OMIM:256050 SLC26A2 1836 HP:0000007 Autosomal recessive inheritance OMIM:256050 SLC26A2 1836 HP:0001762 Talipes equinovarus OMIM:256050 SLC26A2 1836 HP:0000347 Micrognathia OMIM:256050 SLC26A2 1836 HP:0006375 Dumbbell-shaped femur OMIM:256050 SLC26A2 1836 HP:0003440 Horizontal sacrum OMIM:256050 SLC26A2 1836 HP:0003185 Short sacroiliac notch OMIM:256050 SLC26A2 1836 HP:0002983 Micromelia OMIM:256050 SLC26A2 1836 HP:0003417 Coronal cleft vertebrae OMIM:256050 SLC26A2 1836 HP:0011800 Midface retrusion OMIM:614617 TBC1D24 57465 HP:0000007 Autosomal recessive inheritance OMIM:614617 TBC1D24 57465 HP:0000365 Hearing impairment OMIM:609698 SECISBP2 79048 HP:0002925 Thyroid-stimulating hormone excess OMIM:609698 SECISBP2 79048 HP:0000007 Autosomal recessive inheritance OMIM:609698 SECISBP2 79048 HP:0002750 Delayed skeletal maturation OMIM:612164 STXBP1 6812 HP:0001151 Impaired horizontal smooth pursuit OMIM:612164 STXBP1 6812 HP:0001337 Tremor OMIM:612164 STXBP1 6812 HP:0010864 Intellectual disability, severe OMIM:612164 STXBP1 6812 HP:0001252 Muscular hypotonia OMIM:612164 STXBP1 6812 HP:0011344 Severe global developmental delay OMIM:612164 STXBP1 6812 HP:0010851 EEG with burst suppression OMIM:612164 STXBP1 6812 HP:0001258 Spastic paraplegia OMIM:612164 STXBP1 6812 HP:0002059 Cerebral atrophy OMIM:612164 STXBP1 6812 HP:0007105 Infantile encephalopathy OMIM:612164 STXBP1 6812 HP:0011097 Epileptic spasms OMIM:612164 STXBP1 6812 HP:0002376 Developmental regression OMIM:612164 STXBP1 6812 HP:0000006 Autosomal dominant inheritance OMIM:612164 STXBP1 6812 HP:0200134 Epileptic encephalopathy OMIM:612164 STXBP1 6812 HP:0010818 Generalized tonic seizures OMIM:612164 STXBP1 6812 HP:0002133 Status epilepticus OMIM:612164 STXBP1 6812 HP:0006808 Cerebral hypomyelination OMIM:612164 STXBP1 6812 HP:0002079 Hypoplasia of the corpus callosum OMIM:612164 STXBP1 6812 HP:0002123 Generalized myoclonic seizures OMIM:612164 STXBP1 6812 HP:0003623 Neonatal onset OMIM:612164 STXBP1 6812 HP:0002521 Hypsarrhythmia OMIM:612164 STXBP1 6812 HP:0002510 Spastic tetraplegia OMIM:612164 STXBP1 6812 HP:0001344 Absent speech OMIM:612164 STXBP1 6812 HP:0002069 Generalized tonic-clonic seizures OMIM:607107 TP53 7157 HP:0010982 Polygenic inheritance OMIM:607107 TP53 7157 HP:0100630 Neoplasia of the nasopharynx OMIM:207900 ASL 435 HP:0003623 Neonatal onset OMIM:207900 ASL 435 HP:0001395 Hepatic fibrosis OMIM:207900 ASL 435 HP:0004322 Short stature OMIM:207900 ASL 435 HP:0001251 Ataxia OMIM:207900 ASL 435 HP:0001950 Respiratory alkalosis OMIM:207900 ASL 435 HP:0005961 Hypoargininemia OMIM:207900 ASL 435 HP:0001987 Hyperammonemia OMIM:207900 ASL 435 HP:0001259 Coma OMIM:207900 ASL 435 HP:0002181 Cerebral edema OMIM:207900 ASL 435 HP:0003218 Oroticaciduria OMIM:207900 ASL 435 HP:0001249 Intellectual disability OMIM:207900 ASL 435 HP:0009886 Trichorrhexis nodosa OMIM:207900 ASL 435 HP:0003355 Aminoaciduria OMIM:207900 ASL 435 HP:0100543 Cognitive impairment OMIM:207900 ASL 435 HP:0002353 EEG abnormality OMIM:207900 ASL 435 HP:0001951 Episodic ammonia intoxication OMIM:207900 ASL 435 HP:0000737 Irritability OMIM:207900 ASL 435 HP:0001250 Seizures OMIM:207900 ASL 435 HP:0011359 Dry hair OMIM:207900 ASL 435 HP:0002240 Hepatomegaly OMIM:207900 ASL 435 HP:0011362 Abnormal hair quantity OMIM:207900 ASL 435 HP:0000007 Autosomal recessive inheritance OMIM:207900 ASL 435 HP:0002038 Protein avoidance OMIM:207900 ASL 435 HP:0003217 Hyperglutaminemia OMIM:207900 ASL 435 HP:0008872 Feeding difficulties in infancy OMIM:207900 ASL 435 HP:0001508 Failure to thrive OMIM:207900 ASL 435 HP:0002311 Incoordination OMIM:207900 ASL 435 HP:0001254 Lethargy OMIM:207900 ASL 435 HP:0002013 Vomiting OMIM:207900 ASL 435 HP:0001263 Global developmental delay OMIM:201250 GDF5 8200 HP:0006110 Shortening of all middle phalanges of the fingers OMIM:201250 GDF5 8200 HP:0004322 Short stature OMIM:201250 GDF5 8200 HP:0008890 Severe short-limb dwarfism OMIM:201250 GDF5 8200 HP:0005736 Short tibia OMIM:201250 GDF5 8200 HP:0001773 Short foot OMIM:201250 GDF5 8200 HP:0003022 Hypoplasia of the ulna OMIM:201250 GDF5 8200 HP:0003028 Abnormality of the ankles OMIM:201250 GDF5 8200 HP:0002984 Hypoplasia of the radius OMIM:201250 GDF5 8200 HP:0006011 Cuboidal metacarpal OMIM:201250 GDF5 8200 HP:0001376 Limitation of joint mobility OMIM:201250 GDF5 8200 HP:0008368 Tarsal synostosis OMIM:201250 GDF5 8200 HP:0000954 Single transverse palmar crease OMIM:201250 GDF5 8200 HP:0005096 Distal femoral bowing OMIM:201250 GDF5 8200 HP:0006144 Shortening of all proximal phalanges of the fingers OMIM:201250 GDF5 8200 HP:0003019 Abnormality of the wrist OMIM:201250 GDF5 8200 HP:0003086 Acromesomelia OMIM:201250 GDF5 8200 HP:0003038 Fibular hypoplasia OMIM:201250 GDF5 8200 HP:0002167 Neurological speech impairment OMIM:201250 GDF5 8200 HP:0002986 Radial bowing OMIM:201250 GDF5 8200 HP:0001156 Brachydactyly syndrome OMIM:201250 GDF5 8200 HP:0100543 Cognitive impairment OMIM:201250 GDF5 8200 HP:0003042 Elbow dislocation OMIM:201250 GDF5 8200 HP:0002983 Micromelia OMIM:201250 GDF5 8200 HP:0003272 Abnormality of the hip bone OMIM:201250 GDF5 8200 HP:0000007 Autosomal recessive inheritance OMIM:201250 GDF5 8200 HP:0006014 Abnormally shaped carpal bones OMIM:201250 GDF5 8200 HP:0002999 Patellar dislocation OMIM:201250 GDF5 8200 HP:0009778 Short thumb OMIM:201250 GDF5 8200 HP:0002827 Hip dislocation OMIM:201250 GDF5 8200 HP:0002650 Scoliosis OMIM:261550 AMH 268 HP:0000022 Abnormality of male internal genitalia OMIM:261550 AMH 268 HP:0000037 Male pseudohermaphroditism OMIM:261550 AMH 268 HP:0000023 Inguinal hernia OMIM:261550 AMH 268 HP:0008689 Bilateral cryptorchidism OMIM:261550 AMH 268 HP:0000007 Autosomal recessive inheritance OMIM:261550 AMH 268 HP:0004299 Hernia of the abdominal wall OMIM:261550 AMH 268 HP:0003251 Male infertility OMIM:261550 AMH 268 HP:0003117 Abnormality of circulating hormone level OMIM:261550 AMH 268 HP:0000028 Cryptorchidism OMIM:261550 AMHR2 269 HP:0000022 Abnormality of male internal genitalia OMIM:261550 AMHR2 269 HP:0000037 Male pseudohermaphroditism OMIM:261550 AMHR2 269 HP:0000023 Inguinal hernia OMIM:261550 AMHR2 269 HP:0008689 Bilateral cryptorchidism OMIM:261550 AMHR2 269 HP:0000007 Autosomal recessive inheritance OMIM:261550 AMHR2 269 HP:0004299 Hernia of the abdominal wall OMIM:261550 AMHR2 269 HP:0003251 Male infertility OMIM:261550 AMHR2 269 HP:0003117 Abnormality of circulating hormone level OMIM:261550 AMHR2 269 HP:0000028 Cryptorchidism OMIM:608118 SLC30A2 7780 HP:0000007 Autosomal recessive inheritance OMIM:608118 SLC30A2 7780 HP:0002242 Abnormality of the intestine OMIM:608118 SLC30A2 7780 HP:0008277 Abnormality of zinc homeostasis OMIM:608118 SLC30A2 7780 HP:0000964 Eczema OMIM:147950 FGFR1 2260 HP:0000458 Anosmia OMIM:147950 FGFR1 2260 HP:0000006 Autosomal dominant inheritance OMIM:147950 FGFR1 2260 HP:0000612 Iris coloboma OMIM:147950 FGFR1 2260 HP:0000028 Cryptorchidism OMIM:147950 FGFR1 2260 HP:0000044 Hypogonadotrophic hypogonadism OMIM:147950 FGFR1 2260 HP:0000453 Choanal atresia OMIM:147950 FGFR1 2260 HP:0000054 Micropenis OMIM:147950 FGFR1 2260 HP:0030084 Clinodactyly OMIM:147950 FGFR1 2260 HP:0001425 Heterogeneous OMIM:147950 FGFR1 2260 HP:0002564 Malformation of the heart and great vessels OMIM:147950 FGFR1 2260 HP:0001274 Agenesis of corpus callosum OMIM:147950 FGFR1 2260 HP:0000407 Sensorineural hearing impairment OMIM:147950 FGFR1 2260 HP:0000786 Primary amenorrhea OMIM:147950 FGFR1 2260 HP:0000175 Cleft palate OMIM:147950 FGFR1 2260 HP:0001249 Intellectual disability OMIM:147950 FGFR1 2260 HP:0000204 Cleft upper lip OMIM:147950 FGFR1 2260 HP:0000938 Osteopenia OMIM:147950 FGFR1 2260 HP:0004322 Short stature ORPHANET:1465 ARID1B 57492 HP:0001305 Dandy-Walker malformation ORPHANET:1465 ARID1B 57492 HP:0000175 Cleft palate ORPHANET:1465 ARID1B 57492 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:1465 ARID1B 57492 HP:0000639 Nystagmus ORPHANET:1465 ARID1B 57492 HP:0001798 Anonychia ORPHANET:1465 ARID1B 57492 HP:0100543 Cognitive impairment ORPHANET:1465 ARID1B 57492 HP:0004322 Short stature ORPHANET:1465 ARID1B 57492 HP:0000499 Abnormality of the eyelashes ORPHANET:1465 ARID1B 57492 HP:0002650 Scoliosis ORPHANET:1465 ARID1B 57492 HP:0000179 Thick lower lip vermilion ORPHANET:1465 ARID1B 57492 HP:0010624 Aplastic/hypoplastic toenail ORPHANET:1465 ARID1B 57492 HP:0000776 Congenital diaphragmatic hernia ORPHANET:1465 ARID1B 57492 HP:0006443 Patellar aplasia ORPHANET:1465 ARID1B 57492 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:1465 ARID1B 57492 HP:0005108 Abnormality of the intervertebral disk ORPHANET:1465 ARID1B 57492 HP:0003298 Spina bifida occulta ORPHANET:1465 ARID1B 57492 HP:0000965 Cutis marmorata ORPHANET:1465 ARID1B 57492 HP:0001511 Intrauterine growth retardation ORPHANET:1465 ARID1B 57492 HP:0009882 Short distal phalanx of finger ORPHANET:1465 ARID1B 57492 HP:0001382 Joint hypermobility ORPHANET:1465 ARID1B 57492 HP:0000322 Short philtrum ORPHANET:1465 ARID1B 57492 HP:0001250 Seizures ORPHANET:1465 ARID1B 57492 HP:0000365 Hearing impairment ORPHANET:1465 ARID1B 57492 HP:0000280 Coarse facial features ORPHANET:1465 ARID1B 57492 HP:0000518 Cataract ORPHANET:1465 ARID1B 57492 HP:0000632 Lacrimation abnormality ORPHANET:1465 ARID1B 57492 HP:0003272 Abnormality of the hip bone ORPHANET:1465 ARID1B 57492 HP:0100542 Abnormal localization of kidney ORPHANET:1465 ARID1B 57492 HP:0000457 Depressed nasal ridge ORPHANET:1465 ARID1B 57492 HP:0000889 Abnormality of the clavicle ORPHANET:1465 ARID1B 57492 HP:0000154 Wide mouth ORPHANET:1465 ARID1B 57492 HP:0000954 Single transverse palmar crease ORPHANET:1465 ARID1B 57492 HP:0008872 Feeding difficulties in infancy ORPHANET:1465 ARID1B 57492 HP:0005280 Depressed nasal bridge ORPHANET:1465 ARID1B 57492 HP:0000252 Microcephaly ORPHANET:1465 ARID1B 57492 HP:0008678 Renal hypoplasia/aplasia ORPHANET:1465 ARID1B 57492 HP:0002808 Kyphosis ORPHANET:1465 ARID1B 57492 HP:0000164 Abnormality of the teeth ORPHANET:1465 ARID1B 57492 HP:0002217 Slow-growing hair ORPHANET:1465 ARID1B 57492 HP:0002564 Malformation of the heart and great vessels ORPHANET:1465 ARID1B 57492 HP:0000998 Hypertrichosis ORPHANET:1465 ARID1B 57492 HP:0003042 Elbow dislocation ORPHANET:1465 ARID1B 57492 HP:0000028 Cryptorchidism ORPHANET:1465 ARID1B 57492 HP:0000508 Ptosis ORPHANET:1465 ARID1B 57492 HP:0001252 Muscular hypotonia ORPHANET:1465 ARID1B 57492 HP:0000486 Strabismus ORPHANET:1465 ARID1B 57492 HP:0002205 Recurrent respiratory infections ORPHANET:1465 ARID1B 57492 HP:0000286 Epicanthus ORPHANET:1465 ARID1B 57492 HP:0000574 Thick eyebrow ORPHANET:1465 SMARCE1 6605 HP:0001305 Dandy-Walker malformation ORPHANET:1465 SMARCE1 6605 HP:0000175 Cleft palate ORPHANET:1465 SMARCE1 6605 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:1465 SMARCE1 6605 HP:0000639 Nystagmus ORPHANET:1465 SMARCE1 6605 HP:0001798 Anonychia ORPHANET:1465 SMARCE1 6605 HP:0100543 Cognitive impairment ORPHANET:1465 SMARCE1 6605 HP:0004322 Short stature ORPHANET:1465 SMARCE1 6605 HP:0000499 Abnormality of the eyelashes ORPHANET:1465 SMARCE1 6605 HP:0002650 Scoliosis ORPHANET:1465 SMARCE1 6605 HP:0000179 Thick lower lip vermilion ORPHANET:1465 SMARCE1 6605 HP:0010624 Aplastic/hypoplastic toenail ORPHANET:1465 SMARCE1 6605 HP:0000776 Congenital diaphragmatic hernia ORPHANET:1465 SMARCE1 6605 HP:0006443 Patellar aplasia ORPHANET:1465 SMARCE1 6605 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:1465 SMARCE1 6605 HP:0005108 Abnormality of the intervertebral disk ORPHANET:1465 SMARCE1 6605 HP:0003298 Spina bifida occulta ORPHANET:1465 SMARCE1 6605 HP:0000965 Cutis marmorata ORPHANET:1465 SMARCE1 6605 HP:0001511 Intrauterine growth retardation ORPHANET:1465 SMARCE1 6605 HP:0009882 Short distal phalanx of finger ORPHANET:1465 SMARCE1 6605 HP:0001382 Joint hypermobility ORPHANET:1465 SMARCE1 6605 HP:0000322 Short philtrum ORPHANET:1465 SMARCE1 6605 HP:0001250 Seizures ORPHANET:1465 SMARCE1 6605 HP:0000365 Hearing impairment ORPHANET:1465 SMARCE1 6605 HP:0000280 Coarse facial features ORPHANET:1465 SMARCE1 6605 HP:0000518 Cataract ORPHANET:1465 SMARCE1 6605 HP:0000632 Lacrimation abnormality ORPHANET:1465 SMARCE1 6605 HP:0003272 Abnormality of the hip bone ORPHANET:1465 SMARCE1 6605 HP:0100542 Abnormal localization of kidney ORPHANET:1465 SMARCE1 6605 HP:0000457 Depressed nasal ridge ORPHANET:1465 SMARCE1 6605 HP:0000889 Abnormality of the clavicle ORPHANET:1465 SMARCE1 6605 HP:0000154 Wide mouth ORPHANET:1465 SMARCE1 6605 HP:0000954 Single transverse palmar crease ORPHANET:1465 SMARCE1 6605 HP:0008872 Feeding difficulties in infancy ORPHANET:1465 SMARCE1 6605 HP:0005280 Depressed nasal bridge ORPHANET:1465 SMARCE1 6605 HP:0000252 Microcephaly ORPHANET:1465 SMARCE1 6605 HP:0008678 Renal hypoplasia/aplasia ORPHANET:1465 SMARCE1 6605 HP:0002808 Kyphosis ORPHANET:1465 SMARCE1 6605 HP:0000164 Abnormality of the teeth ORPHANET:1465 SMARCE1 6605 HP:0002217 Slow-growing hair ORPHANET:1465 SMARCE1 6605 HP:0002564 Malformation of the heart and great vessels ORPHANET:1465 SMARCE1 6605 HP:0000998 Hypertrichosis ORPHANET:1465 SMARCE1 6605 HP:0003042 Elbow dislocation ORPHANET:1465 SMARCE1 6605 HP:0000028 Cryptorchidism ORPHANET:1465 SMARCE1 6605 HP:0000508 Ptosis ORPHANET:1465 SMARCE1 6605 HP:0001252 Muscular hypotonia ORPHANET:1465 SMARCE1 6605 HP:0000486 Strabismus ORPHANET:1465 SMARCE1 6605 HP:0002205 Recurrent respiratory infections ORPHANET:1465 SMARCE1 6605 HP:0000286 Epicanthus ORPHANET:1465 SMARCE1 6605 HP:0000574 Thick eyebrow ORPHANET:1465 ARID1A 8289 HP:0001305 Dandy-Walker malformation ORPHANET:1465 ARID1A 8289 HP:0000175 Cleft palate ORPHANET:1465 ARID1A 8289 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:1465 ARID1A 8289 HP:0000639 Nystagmus ORPHANET:1465 ARID1A 8289 HP:0001798 Anonychia ORPHANET:1465 ARID1A 8289 HP:0100543 Cognitive impairment ORPHANET:1465 ARID1A 8289 HP:0004322 Short stature ORPHANET:1465 ARID1A 8289 HP:0000499 Abnormality of the eyelashes ORPHANET:1465 ARID1A 8289 HP:0002650 Scoliosis ORPHANET:1465 ARID1A 8289 HP:0000179 Thick lower lip vermilion ORPHANET:1465 ARID1A 8289 HP:0010624 Aplastic/hypoplastic toenail ORPHANET:1465 ARID1A 8289 HP:0000776 Congenital diaphragmatic hernia ORPHANET:1465 ARID1A 8289 HP:0006443 Patellar aplasia ORPHANET:1465 ARID1A 8289 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:1465 ARID1A 8289 HP:0005108 Abnormality of the intervertebral disk ORPHANET:1465 ARID1A 8289 HP:0003298 Spina bifida occulta ORPHANET:1465 ARID1A 8289 HP:0000965 Cutis marmorata ORPHANET:1465 ARID1A 8289 HP:0001511 Intrauterine growth retardation ORPHANET:1465 ARID1A 8289 HP:0009882 Short distal phalanx of finger ORPHANET:1465 ARID1A 8289 HP:0001382 Joint hypermobility ORPHANET:1465 ARID1A 8289 HP:0000322 Short philtrum ORPHANET:1465 ARID1A 8289 HP:0001250 Seizures ORPHANET:1465 ARID1A 8289 HP:0000365 Hearing impairment ORPHANET:1465 ARID1A 8289 HP:0000280 Coarse facial features ORPHANET:1465 ARID1A 8289 HP:0000518 Cataract ORPHANET:1465 ARID1A 8289 HP:0000632 Lacrimation abnormality ORPHANET:1465 ARID1A 8289 HP:0003272 Abnormality of the hip bone ORPHANET:1465 ARID1A 8289 HP:0100542 Abnormal localization of kidney ORPHANET:1465 ARID1A 8289 HP:0000457 Depressed nasal ridge ORPHANET:1465 ARID1A 8289 HP:0000889 Abnormality of the clavicle ORPHANET:1465 ARID1A 8289 HP:0000154 Wide mouth ORPHANET:1465 ARID1A 8289 HP:0000954 Single transverse palmar crease ORPHANET:1465 ARID1A 8289 HP:0008872 Feeding difficulties in infancy ORPHANET:1465 ARID1A 8289 HP:0005280 Depressed nasal bridge ORPHANET:1465 ARID1A 8289 HP:0000252 Microcephaly ORPHANET:1465 ARID1A 8289 HP:0008678 Renal hypoplasia/aplasia ORPHANET:1465 ARID1A 8289 HP:0002808 Kyphosis ORPHANET:1465 ARID1A 8289 HP:0000164 Abnormality of the teeth ORPHANET:1465 ARID1A 8289 HP:0002217 Slow-growing hair ORPHANET:1465 ARID1A 8289 HP:0002564 Malformation of the heart and great vessels ORPHANET:1465 ARID1A 8289 HP:0000998 Hypertrichosis ORPHANET:1465 ARID1A 8289 HP:0003042 Elbow dislocation ORPHANET:1465 ARID1A 8289 HP:0000028 Cryptorchidism ORPHANET:1465 ARID1A 8289 HP:0000508 Ptosis ORPHANET:1465 ARID1A 8289 HP:0001252 Muscular hypotonia ORPHANET:1465 ARID1A 8289 HP:0000486 Strabismus ORPHANET:1465 ARID1A 8289 HP:0002205 Recurrent respiratory infections ORPHANET:1465 ARID1A 8289 HP:0000286 Epicanthus ORPHANET:1465 ARID1A 8289 HP:0000574 Thick eyebrow ORPHANET:1465 SMARCB1 6598 HP:0001305 Dandy-Walker malformation ORPHANET:1465 SMARCB1 6598 HP:0000175 Cleft palate ORPHANET:1465 SMARCB1 6598 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:1465 SMARCB1 6598 HP:0000639 Nystagmus ORPHANET:1465 SMARCB1 6598 HP:0001798 Anonychia ORPHANET:1465 SMARCB1 6598 HP:0100543 Cognitive impairment ORPHANET:1465 SMARCB1 6598 HP:0004322 Short stature ORPHANET:1465 SMARCB1 6598 HP:0000499 Abnormality of the eyelashes ORPHANET:1465 SMARCB1 6598 HP:0002650 Scoliosis ORPHANET:1465 SMARCB1 6598 HP:0000179 Thick lower lip vermilion ORPHANET:1465 SMARCB1 6598 HP:0010624 Aplastic/hypoplastic toenail ORPHANET:1465 SMARCB1 6598 HP:0000776 Congenital diaphragmatic hernia ORPHANET:1465 SMARCB1 6598 HP:0006443 Patellar aplasia ORPHANET:1465 SMARCB1 6598 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:1465 SMARCB1 6598 HP:0005108 Abnormality of the intervertebral disk ORPHANET:1465 SMARCB1 6598 HP:0003298 Spina bifida occulta ORPHANET:1465 SMARCB1 6598 HP:0000965 Cutis marmorata ORPHANET:1465 SMARCB1 6598 HP:0001511 Intrauterine growth retardation ORPHANET:1465 SMARCB1 6598 HP:0009882 Short distal phalanx of finger ORPHANET:1465 SMARCB1 6598 HP:0001382 Joint hypermobility ORPHANET:1465 SMARCB1 6598 HP:0000322 Short philtrum ORPHANET:1465 SMARCB1 6598 HP:0001250 Seizures ORPHANET:1465 SMARCB1 6598 HP:0000365 Hearing impairment ORPHANET:1465 SMARCB1 6598 HP:0000280 Coarse facial features ORPHANET:1465 SMARCB1 6598 HP:0000518 Cataract ORPHANET:1465 SMARCB1 6598 HP:0000632 Lacrimation abnormality ORPHANET:1465 SMARCB1 6598 HP:0003272 Abnormality of the hip bone ORPHANET:1465 SMARCB1 6598 HP:0100542 Abnormal localization of kidney ORPHANET:1465 SMARCB1 6598 HP:0000457 Depressed nasal ridge ORPHANET:1465 SMARCB1 6598 HP:0000889 Abnormality of the clavicle ORPHANET:1465 SMARCB1 6598 HP:0000154 Wide mouth ORPHANET:1465 SMARCB1 6598 HP:0000954 Single transverse palmar crease ORPHANET:1465 SMARCB1 6598 HP:0008872 Feeding difficulties in infancy ORPHANET:1465 SMARCB1 6598 HP:0005280 Depressed nasal bridge ORPHANET:1465 SMARCB1 6598 HP:0000252 Microcephaly ORPHANET:1465 SMARCB1 6598 HP:0008678 Renal hypoplasia/aplasia ORPHANET:1465 SMARCB1 6598 HP:0002808 Kyphosis ORPHANET:1465 SMARCB1 6598 HP:0000164 Abnormality of the teeth ORPHANET:1465 SMARCB1 6598 HP:0002217 Slow-growing hair ORPHANET:1465 SMARCB1 6598 HP:0002564 Malformation of the heart and great vessels ORPHANET:1465 SMARCB1 6598 HP:0000998 Hypertrichosis ORPHANET:1465 SMARCB1 6598 HP:0003042 Elbow dislocation ORPHANET:1465 SMARCB1 6598 HP:0000028 Cryptorchidism ORPHANET:1465 SMARCB1 6598 HP:0000508 Ptosis ORPHANET:1465 SMARCB1 6598 HP:0001252 Muscular hypotonia ORPHANET:1465 SMARCB1 6598 HP:0000486 Strabismus ORPHANET:1465 SMARCB1 6598 HP:0002205 Recurrent respiratory infections ORPHANET:1465 SMARCB1 6598 HP:0000286 Epicanthus ORPHANET:1465 SMARCB1 6598 HP:0000574 Thick eyebrow ORPHANET:1465 SMARCA4 6597 HP:0001305 Dandy-Walker malformation ORPHANET:1465 SMARCA4 6597 HP:0000175 Cleft palate ORPHANET:1465 SMARCA4 6597 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:1465 SMARCA4 6597 HP:0000639 Nystagmus ORPHANET:1465 SMARCA4 6597 HP:0001798 Anonychia ORPHANET:1465 SMARCA4 6597 HP:0100543 Cognitive impairment ORPHANET:1465 SMARCA4 6597 HP:0004322 Short stature ORPHANET:1465 SMARCA4 6597 HP:0000499 Abnormality of the eyelashes ORPHANET:1465 SMARCA4 6597 HP:0002650 Scoliosis ORPHANET:1465 SMARCA4 6597 HP:0000179 Thick lower lip vermilion ORPHANET:1465 SMARCA4 6597 HP:0010624 Aplastic/hypoplastic toenail ORPHANET:1465 SMARCA4 6597 HP:0000776 Congenital diaphragmatic hernia ORPHANET:1465 SMARCA4 6597 HP:0006443 Patellar aplasia ORPHANET:1465 SMARCA4 6597 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:1465 SMARCA4 6597 HP:0005108 Abnormality of the intervertebral disk ORPHANET:1465 SMARCA4 6597 HP:0003298 Spina bifida occulta ORPHANET:1465 SMARCA4 6597 HP:0000965 Cutis marmorata ORPHANET:1465 SMARCA4 6597 HP:0001511 Intrauterine growth retardation ORPHANET:1465 SMARCA4 6597 HP:0009882 Short distal phalanx of finger ORPHANET:1465 SMARCA4 6597 HP:0001382 Joint hypermobility ORPHANET:1465 SMARCA4 6597 HP:0000322 Short philtrum ORPHANET:1465 SMARCA4 6597 HP:0001250 Seizures ORPHANET:1465 SMARCA4 6597 HP:0000365 Hearing impairment ORPHANET:1465 SMARCA4 6597 HP:0000280 Coarse facial features ORPHANET:1465 SMARCA4 6597 HP:0000518 Cataract ORPHANET:1465 SMARCA4 6597 HP:0000632 Lacrimation abnormality ORPHANET:1465 SMARCA4 6597 HP:0003272 Abnormality of the hip bone ORPHANET:1465 SMARCA4 6597 HP:0100542 Abnormal localization of kidney ORPHANET:1465 SMARCA4 6597 HP:0000457 Depressed nasal ridge ORPHANET:1465 SMARCA4 6597 HP:0000889 Abnormality of the clavicle ORPHANET:1465 SMARCA4 6597 HP:0000154 Wide mouth ORPHANET:1465 SMARCA4 6597 HP:0000954 Single transverse palmar crease ORPHANET:1465 SMARCA4 6597 HP:0008872 Feeding difficulties in infancy ORPHANET:1465 SMARCA4 6597 HP:0005280 Depressed nasal bridge ORPHANET:1465 SMARCA4 6597 HP:0000252 Microcephaly ORPHANET:1465 SMARCA4 6597 HP:0008678 Renal hypoplasia/aplasia ORPHANET:1465 SMARCA4 6597 HP:0002808 Kyphosis ORPHANET:1465 SMARCA4 6597 HP:0000164 Abnormality of the teeth ORPHANET:1465 SMARCA4 6597 HP:0002217 Slow-growing hair ORPHANET:1465 SMARCA4 6597 HP:0002564 Malformation of the heart and great vessels ORPHANET:1465 SMARCA4 6597 HP:0000998 Hypertrichosis ORPHANET:1465 SMARCA4 6597 HP:0003042 Elbow dislocation ORPHANET:1465 SMARCA4 6597 HP:0000028 Cryptorchidism ORPHANET:1465 SMARCA4 6597 HP:0000508 Ptosis ORPHANET:1465 SMARCA4 6597 HP:0001252 Muscular hypotonia ORPHANET:1465 SMARCA4 6597 HP:0000486 Strabismus ORPHANET:1465 SMARCA4 6597 HP:0002205 Recurrent respiratory infections ORPHANET:1465 SMARCA4 6597 HP:0000286 Epicanthus ORPHANET:1465 SMARCA4 6597 HP:0000574 Thick eyebrow ORPHANET:1465 SOX11 6664 HP:0001305 Dandy-Walker malformation ORPHANET:1465 SOX11 6664 HP:0000175 Cleft palate ORPHANET:1465 SOX11 6664 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:1465 SOX11 6664 HP:0000639 Nystagmus ORPHANET:1465 SOX11 6664 HP:0001798 Anonychia ORPHANET:1465 SOX11 6664 HP:0100543 Cognitive impairment ORPHANET:1465 SOX11 6664 HP:0004322 Short stature ORPHANET:1465 SOX11 6664 HP:0000499 Abnormality of the eyelashes ORPHANET:1465 SOX11 6664 HP:0002650 Scoliosis ORPHANET:1465 SOX11 6664 HP:0000179 Thick lower lip vermilion ORPHANET:1465 SOX11 6664 HP:0010624 Aplastic/hypoplastic toenail ORPHANET:1465 SOX11 6664 HP:0000776 Congenital diaphragmatic hernia ORPHANET:1465 SOX11 6664 HP:0006443 Patellar aplasia ORPHANET:1465 SOX11 6664 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:1465 SOX11 6664 HP:0005108 Abnormality of the intervertebral disk ORPHANET:1465 SOX11 6664 HP:0003298 Spina bifida occulta ORPHANET:1465 SOX11 6664 HP:0000965 Cutis marmorata ORPHANET:1465 SOX11 6664 HP:0001511 Intrauterine growth retardation ORPHANET:1465 SOX11 6664 HP:0009882 Short distal phalanx of finger ORPHANET:1465 SOX11 6664 HP:0001382 Joint hypermobility ORPHANET:1465 SOX11 6664 HP:0000322 Short philtrum ORPHANET:1465 SOX11 6664 HP:0001250 Seizures ORPHANET:1465 SOX11 6664 HP:0000365 Hearing impairment ORPHANET:1465 SOX11 6664 HP:0000280 Coarse facial features ORPHANET:1465 SOX11 6664 HP:0000518 Cataract ORPHANET:1465 SOX11 6664 HP:0000632 Lacrimation abnormality ORPHANET:1465 SOX11 6664 HP:0003272 Abnormality of the hip bone ORPHANET:1465 SOX11 6664 HP:0100542 Abnormal localization of kidney ORPHANET:1465 SOX11 6664 HP:0000457 Depressed nasal ridge ORPHANET:1465 SOX11 6664 HP:0000889 Abnormality of the clavicle ORPHANET:1465 SOX11 6664 HP:0000154 Wide mouth ORPHANET:1465 SOX11 6664 HP:0000954 Single transverse palmar crease ORPHANET:1465 SOX11 6664 HP:0008872 Feeding difficulties in infancy ORPHANET:1465 SOX11 6664 HP:0005280 Depressed nasal bridge ORPHANET:1465 SOX11 6664 HP:0000252 Microcephaly ORPHANET:1465 SOX11 6664 HP:0008678 Renal hypoplasia/aplasia ORPHANET:1465 SOX11 6664 HP:0002808 Kyphosis ORPHANET:1465 SOX11 6664 HP:0000164 Abnormality of the teeth ORPHANET:1465 SOX11 6664 HP:0002217 Slow-growing hair ORPHANET:1465 SOX11 6664 HP:0002564 Malformation of the heart and great vessels ORPHANET:1465 SOX11 6664 HP:0000998 Hypertrichosis ORPHANET:1465 SOX11 6664 HP:0003042 Elbow dislocation ORPHANET:1465 SOX11 6664 HP:0000028 Cryptorchidism ORPHANET:1465 SOX11 6664 HP:0000508 Ptosis ORPHANET:1465 SOX11 6664 HP:0001252 Muscular hypotonia ORPHANET:1465 SOX11 6664 HP:0000486 Strabismus ORPHANET:1465 SOX11 6664 HP:0002205 Recurrent respiratory infections ORPHANET:1465 SOX11 6664 HP:0000286 Epicanthus ORPHANET:1465 SOX11 6664 HP:0000574 Thick eyebrow OMIM:601650 SDHAF2 54949 HP:0003001 Glomus jugular tumor OMIM:601650 SDHAF2 54949 HP:0003581 Adult onset OMIM:601650 SDHAF2 54949 HP:0002886 Vagal paraganglioma OMIM:601650 SDHAF2 54949 HP:0030074 Chemodectoma OMIM:601650 SDHAF2 54949 HP:0006715 Glomus tympanicum paraganglioma OMIM:601650 SDHAF2 54949 HP:0000006 Autosomal dominant inheritance OMIM:601650 SDHAF2 54949 HP:0001613 Hoarse voice (caused by tumor impingement) OMIM:601650 SDHAF2 54949 HP:0001686 Loss of voice OMIM:601650 SDHAF2 54949 HP:0000361 Pulsatile tinnitus (tympanic paraganglioma) OMIM:601650 SDHAF2 54949 HP:0002377 Paraganglioma-related cranial nerve palsy OMIM:601650 SDHAF2 54949 HP:0001606 Vocal cord paralysis (caused by tumor impingement) OMIM:613287 AARS 16 HP:0003431 Decreased motor nerve conduction velocity OMIM:613287 AARS 16 HP:0000006 Autosomal dominant inheritance OMIM:613287 AARS 16 HP:0003828 Variable expressivity OMIM:613287 AARS 16 HP:0003202 Skeletal muscle atrophy OMIM:613287 AARS 16 HP:0001284 Areflexia OMIM:613287 AARS 16 HP:0002460 Distal muscle weakness OMIM:613287 AARS 16 HP:0001761 Pes cavus OMIM:613287 AARS 16 HP:0002936 Distal sensory impairment OMIM:613287 AARS 16 HP:0001765 Hammertoe OMIM:613287 AARS 16 HP:0009027 Foot dorsiflexor weakness OMIM:613287 AARS 16 HP:0003477 Peripheral axonal neuropathy OMIM:174900 SMAD4 4089 HP:0001508 Failure to thrive OMIM:174900 SMAD4 4089 HP:0003073 Hypoalbuminemia OMIM:174900 SMAD4 4089 HP:0002573 Hematochezia OMIM:174900 SMAD4 4089 HP:0001217 Clubbing OMIM:174900 SMAD4 4089 HP:0002576 Intussusception OMIM:174900 SMAD4 4089 HP:0002900 Hypokalemia OMIM:174900 SMAD4 4089 HP:0003003 Colon cancer OMIM:174900 SMAD4 4089 HP:0002014 Diarrhea OMIM:174900 SMAD4 4089 HP:0004394 Multiple gastric polyps OMIM:174900 SMAD4 4089 HP:0002035 Rectal prolapse OMIM:174900 SMAD4 4089 HP:0006771 Duodenal adenocarcinoma OMIM:174900 SMAD4 4089 HP:0000006 Autosomal dominant inheritance OMIM:174900 SMAD4 4089 HP:0002027 Abdominal pain OMIM:174900 SMAD4 4089 HP:0001903 Anemia OMIM:174900 BMPR1A 657 HP:0001508 Failure to thrive OMIM:174900 BMPR1A 657 HP:0003073 Hypoalbuminemia OMIM:174900 BMPR1A 657 HP:0002573 Hematochezia OMIM:174900 BMPR1A 657 HP:0001217 Clubbing OMIM:174900 BMPR1A 657 HP:0002576 Intussusception OMIM:174900 BMPR1A 657 HP:0002900 Hypokalemia OMIM:174900 BMPR1A 657 HP:0003003 Colon cancer OMIM:174900 BMPR1A 657 HP:0002014 Diarrhea OMIM:174900 BMPR1A 657 HP:0004394 Multiple gastric polyps OMIM:174900 BMPR1A 657 HP:0002035 Rectal prolapse OMIM:174900 BMPR1A 657 HP:0006771 Duodenal adenocarcinoma OMIM:174900 BMPR1A 657 HP:0000006 Autosomal dominant inheritance OMIM:174900 BMPR1A 657 HP:0002027 Abdominal pain OMIM:174900 BMPR1A 657 HP:0001903 Anemia OMIM:256540 CTSA 5476 HP:0010729 Cherry red spot of the macula OMIM:256540 CTSA 5476 HP:0100543 Cognitive impairment OMIM:256540 CTSA 5476 HP:0000365 Hearing impairment OMIM:256540 CTSA 5476 HP:0001250 Seizures OMIM:256540 CTSA 5476 HP:0003510 Severe short stature OMIM:256540 CTSA 5476 HP:0008166 Decreased beta-galactosidase activity OMIM:256540 CTSA 5476 HP:0000524 Conjunctival telangiectasia OMIM:256540 CTSA 5476 HP:0000007 Autosomal recessive inheritance OMIM:256540 CTSA 5476 HP:0000943 Dysostosis multiplex OMIM:256540 CTSA 5476 HP:0002652 Skeletal dysplasia OMIM:256540 CTSA 5476 HP:0007759 Opacification of the corneal stroma OMIM:256540 CTSA 5476 HP:0000280 Coarse facial features OMIM:256540 CTSA 5476 HP:0001433 Hepatosplenomegaly OMIM:256540 CTSA 5476 HP:0001103 Abnormality of the macula OMIM:256540 CTSA 5476 HP:0004322 Short stature OMIM:256540 CTSA 5476 HP:0001249 Intellectual disability OMIM:256540 CTSA 5476 HP:0001028 Hemangioma OMIM:116920 ITGB2 3689 HP:0000007 Autosomal recessive inheritance OMIM:116920 ITGB2 3689 HP:0000704 Periodontitis OMIM:116920 ITGB2 3689 HP:0007499 Recurrent staphylococcal infections OMIM:116920 ITGB2 3689 HP:0000230 Gingivitis OMIM:116920 ITGB2 3689 HP:0001974 Leukocytosis OMIM:116920 ITGB2 3689 HP:0005224 Rectal abscess OMIM:116920 ITGB2 3689 HP:0005420 Recurrent gram-negative bacterial infections OMIM:117000 RYR1 6261 HP:0003803 Type 1 muscle fiber predominance OMIM:117000 RYR1 6261 HP:0000006 Autosomal dominant inheritance OMIM:117000 RYR1 6261 HP:0001374 Congenital hip dislocation OMIM:117000 RYR1 6261 HP:0001371 Flexion contracture OMIM:117000 RYR1 6261 HP:0001763 Pes planus OMIM:117000 RYR1 6261 HP:0003202 Skeletal muscle atrophy OMIM:117000 RYR1 6261 HP:0003324 Generalized muscle weakness OMIM:117000 RYR1 6261 HP:0000007 Autosomal recessive inheritance OMIM:117000 RYR1 6261 HP:0002751 Kyphoscoliosis OMIM:117000 RYR1 6261 HP:0003593 Infantile onset OMIM:117000 RYR1 6261 HP:0003677 Slow progression OMIM:117000 RYR1 6261 HP:0001270 Motor delay OMIM:117000 RYR1 6261 HP:0003812 Phenotypic variability OMIM:117000 RYR1 6261 HP:0003798 Nemaline bodies OMIM:117000 RYR1 6261 HP:0002047 Malignant hyperthermia OMIM:117000 RYR1 6261 HP:0003680 Nonprogressive disorder OMIM:117000 RYR1 6261 HP:0003198 Myopathy OMIM:117000 RYR1 6261 HP:0001945 Fever OMIM:117000 RYR1 6261 HP:0001319 Neonatal hypotonia OMIM:117000 RYR1 6261 HP:0001252 Muscular hypotonia OMIM:209880 BDNF 627 HP:0000358 Posteriorly rotated ears OMIM:209880 BDNF 627 HP:0000975 Hyperhidrosis OMIM:209880 BDNF 627 HP:0011968 Feeding difficulties OMIM:209880 BDNF 627 HP:0001252 Muscular hypotonia OMIM:209880 BDNF 627 HP:0002251 Aganglionic megacolon OMIM:209880 BDNF 627 HP:0100543 Cognitive impairment OMIM:209880 BDNF 627 HP:0006747 Ganglioneuroblastoma OMIM:209880 BDNF 627 HP:0001561 Polyhydramnios OMIM:209880 BDNF 627 HP:0001250 Seizures OMIM:209880 BDNF 627 HP:0003006 Neuroblastoma OMIM:209880 BDNF 627 HP:0000407 Sensorineural hearing impairment OMIM:209880 BDNF 627 HP:0004322 Short stature OMIM:209880 BDNF 627 HP:0000153 Abnormality of the mouth OMIM:209880 BDNF 627 HP:0002093 Respiratory insufficiency OMIM:209880 BDNF 627 HP:0002104 Apnea OMIM:209880 BDNF 627 HP:0001557 Prenatal movement abnormality OMIM:209880 BDNF 627 HP:0002019 Constipation OMIM:209880 BDNF 627 HP:0004370 Abnormality of temperature regulation OMIM:209880 BDNF 627 HP:0001562 Oligohydramnios OMIM:209880 BDNF 627 HP:0001626 Abnormality of the cardiovascular system OMIM:209880 BDNF 627 HP:0003005 Ganglioneuroma OMIM:209880 BDNF 627 HP:0000006 Autosomal dominant inheritance OMIM:209880 BDNF 627 HP:0000486 Strabismus OMIM:209880 BDNF 627 HP:0000494 Downslanted palpebral fissures OMIM:209880 BDNF 627 HP:0000369 Low-set ears OMIM:209880 BDNF 627 HP:0007110 Central hypoventilation OMIM:209880 RET 5979 HP:0000358 Posteriorly rotated ears OMIM:209880 RET 5979 HP:0000975 Hyperhidrosis OMIM:209880 RET 5979 HP:0011968 Feeding difficulties OMIM:209880 RET 5979 HP:0001252 Muscular hypotonia OMIM:209880 RET 5979 HP:0002251 Aganglionic megacolon OMIM:209880 RET 5979 HP:0100543 Cognitive impairment OMIM:209880 RET 5979 HP:0006747 Ganglioneuroblastoma OMIM:209880 RET 5979 HP:0001561 Polyhydramnios OMIM:209880 RET 5979 HP:0001250 Seizures OMIM:209880 RET 5979 HP:0003006 Neuroblastoma OMIM:209880 RET 5979 HP:0000407 Sensorineural hearing impairment OMIM:209880 RET 5979 HP:0004322 Short stature OMIM:209880 RET 5979 HP:0000153 Abnormality of the mouth OMIM:209880 RET 5979 HP:0002093 Respiratory insufficiency OMIM:209880 RET 5979 HP:0002104 Apnea OMIM:209880 RET 5979 HP:0001557 Prenatal movement abnormality OMIM:209880 RET 5979 HP:0002019 Constipation OMIM:209880 RET 5979 HP:0004370 Abnormality of temperature regulation OMIM:209880 RET 5979 HP:0001562 Oligohydramnios OMIM:209880 RET 5979 HP:0001626 Abnormality of the cardiovascular system OMIM:209880 RET 5979 HP:0003005 Ganglioneuroma OMIM:209880 RET 5979 HP:0000006 Autosomal dominant inheritance OMIM:209880 RET 5979 HP:0000486 Strabismus OMIM:209880 RET 5979 HP:0000494 Downslanted palpebral fissures OMIM:209880 RET 5979 HP:0000369 Low-set ears OMIM:209880 RET 5979 HP:0007110 Central hypoventilation OMIM:209880 ASCL1 429 HP:0000358 Posteriorly rotated ears OMIM:209880 ASCL1 429 HP:0000975 Hyperhidrosis OMIM:209880 ASCL1 429 HP:0011968 Feeding difficulties OMIM:209880 ASCL1 429 HP:0001252 Muscular hypotonia OMIM:209880 ASCL1 429 HP:0002251 Aganglionic megacolon OMIM:209880 ASCL1 429 HP:0100543 Cognitive impairment OMIM:209880 ASCL1 429 HP:0006747 Ganglioneuroblastoma OMIM:209880 ASCL1 429 HP:0001561 Polyhydramnios OMIM:209880 ASCL1 429 HP:0001250 Seizures OMIM:209880 ASCL1 429 HP:0003006 Neuroblastoma OMIM:209880 ASCL1 429 HP:0000407 Sensorineural hearing impairment OMIM:209880 ASCL1 429 HP:0004322 Short stature OMIM:209880 ASCL1 429 HP:0000153 Abnormality of the mouth OMIM:209880 ASCL1 429 HP:0002093 Respiratory insufficiency OMIM:209880 ASCL1 429 HP:0002104 Apnea OMIM:209880 ASCL1 429 HP:0001557 Prenatal movement abnormality OMIM:209880 ASCL1 429 HP:0002019 Constipation OMIM:209880 ASCL1 429 HP:0004370 Abnormality of temperature regulation OMIM:209880 ASCL1 429 HP:0001562 Oligohydramnios OMIM:209880 ASCL1 429 HP:0001626 Abnormality of the cardiovascular system OMIM:209880 ASCL1 429 HP:0003005 Ganglioneuroma OMIM:209880 ASCL1 429 HP:0000006 Autosomal dominant inheritance OMIM:209880 ASCL1 429 HP:0000486 Strabismus OMIM:209880 ASCL1 429 HP:0000494 Downslanted palpebral fissures OMIM:209880 ASCL1 429 HP:0000369 Low-set ears OMIM:209880 ASCL1 429 HP:0007110 Central hypoventilation OMIM:209880 PHOX2B 8929 HP:0000358 Posteriorly rotated ears OMIM:209880 PHOX2B 8929 HP:0000975 Hyperhidrosis OMIM:209880 PHOX2B 8929 HP:0011968 Feeding difficulties OMIM:209880 PHOX2B 8929 HP:0001252 Muscular hypotonia OMIM:209880 PHOX2B 8929 HP:0002251 Aganglionic megacolon OMIM:209880 PHOX2B 8929 HP:0100543 Cognitive impairment OMIM:209880 PHOX2B 8929 HP:0006747 Ganglioneuroblastoma OMIM:209880 PHOX2B 8929 HP:0001561 Polyhydramnios OMIM:209880 PHOX2B 8929 HP:0001250 Seizures OMIM:209880 PHOX2B 8929 HP:0003006 Neuroblastoma OMIM:209880 PHOX2B 8929 HP:0000407 Sensorineural hearing impairment OMIM:209880 PHOX2B 8929 HP:0004322 Short stature OMIM:209880 PHOX2B 8929 HP:0000153 Abnormality of the mouth OMIM:209880 PHOX2B 8929 HP:0002093 Respiratory insufficiency OMIM:209880 PHOX2B 8929 HP:0002104 Apnea OMIM:209880 PHOX2B 8929 HP:0001557 Prenatal movement abnormality OMIM:209880 PHOX2B 8929 HP:0002019 Constipation OMIM:209880 PHOX2B 8929 HP:0004370 Abnormality of temperature regulation OMIM:209880 PHOX2B 8929 HP:0001562 Oligohydramnios OMIM:209880 PHOX2B 8929 HP:0001626 Abnormality of the cardiovascular system OMIM:209880 PHOX2B 8929 HP:0003005 Ganglioneuroma OMIM:209880 PHOX2B 8929 HP:0000006 Autosomal dominant inheritance OMIM:209880 PHOX2B 8929 HP:0000486 Strabismus OMIM:209880 PHOX2B 8929 HP:0000494 Downslanted palpebral fissures OMIM:209880 PHOX2B 8929 HP:0000369 Low-set ears OMIM:209880 PHOX2B 8929 HP:0007110 Central hypoventilation OMIM:209880 EDN3 1908 HP:0000358 Posteriorly rotated ears OMIM:209880 EDN3 1908 HP:0000975 Hyperhidrosis OMIM:209880 EDN3 1908 HP:0011968 Feeding difficulties OMIM:209880 EDN3 1908 HP:0001252 Muscular hypotonia OMIM:209880 EDN3 1908 HP:0002251 Aganglionic megacolon OMIM:209880 EDN3 1908 HP:0100543 Cognitive impairment OMIM:209880 EDN3 1908 HP:0006747 Ganglioneuroblastoma OMIM:209880 EDN3 1908 HP:0001561 Polyhydramnios OMIM:209880 EDN3 1908 HP:0001250 Seizures OMIM:209880 EDN3 1908 HP:0003006 Neuroblastoma OMIM:209880 EDN3 1908 HP:0000407 Sensorineural hearing impairment OMIM:209880 EDN3 1908 HP:0004322 Short stature OMIM:209880 EDN3 1908 HP:0000153 Abnormality of the mouth OMIM:209880 EDN3 1908 HP:0002093 Respiratory insufficiency OMIM:209880 EDN3 1908 HP:0002104 Apnea OMIM:209880 EDN3 1908 HP:0001557 Prenatal movement abnormality OMIM:209880 EDN3 1908 HP:0002019 Constipation OMIM:209880 EDN3 1908 HP:0004370 Abnormality of temperature regulation OMIM:209880 EDN3 1908 HP:0001562 Oligohydramnios OMIM:209880 EDN3 1908 HP:0001626 Abnormality of the cardiovascular system OMIM:209880 EDN3 1908 HP:0003005 Ganglioneuroma OMIM:209880 EDN3 1908 HP:0000006 Autosomal dominant inheritance OMIM:209880 EDN3 1908 HP:0000486 Strabismus OMIM:209880 EDN3 1908 HP:0000494 Downslanted palpebral fissures OMIM:209880 EDN3 1908 HP:0000369 Low-set ears OMIM:209880 EDN3 1908 HP:0007110 Central hypoventilation OMIM:209880 GDNF 2668 HP:0000358 Posteriorly rotated ears OMIM:209880 GDNF 2668 HP:0000975 Hyperhidrosis OMIM:209880 GDNF 2668 HP:0011968 Feeding difficulties OMIM:209880 GDNF 2668 HP:0001252 Muscular hypotonia OMIM:209880 GDNF 2668 HP:0002251 Aganglionic megacolon OMIM:209880 GDNF 2668 HP:0100543 Cognitive impairment OMIM:209880 GDNF 2668 HP:0006747 Ganglioneuroblastoma OMIM:209880 GDNF 2668 HP:0001561 Polyhydramnios OMIM:209880 GDNF 2668 HP:0001250 Seizures OMIM:209880 GDNF 2668 HP:0003006 Neuroblastoma OMIM:209880 GDNF 2668 HP:0000407 Sensorineural hearing impairment OMIM:209880 GDNF 2668 HP:0004322 Short stature OMIM:209880 GDNF 2668 HP:0000153 Abnormality of the mouth OMIM:209880 GDNF 2668 HP:0002093 Respiratory insufficiency OMIM:209880 GDNF 2668 HP:0002104 Apnea OMIM:209880 GDNF 2668 HP:0001557 Prenatal movement abnormality OMIM:209880 GDNF 2668 HP:0002019 Constipation OMIM:209880 GDNF 2668 HP:0004370 Abnormality of temperature regulation OMIM:209880 GDNF 2668 HP:0001562 Oligohydramnios OMIM:209880 GDNF 2668 HP:0001626 Abnormality of the cardiovascular system OMIM:209880 GDNF 2668 HP:0003005 Ganglioneuroma OMIM:209880 GDNF 2668 HP:0000006 Autosomal dominant inheritance OMIM:209880 GDNF 2668 HP:0000486 Strabismus OMIM:209880 GDNF 2668 HP:0000494 Downslanted palpebral fissures OMIM:209880 GDNF 2668 HP:0000369 Low-set ears OMIM:209880 GDNF 2668 HP:0007110 Central hypoventilation OMIM:606952 TYR 7299 HP:0008069 Neoplasm of the skin OMIM:606952 TYR 7299 HP:0000505 Visual impairment OMIM:606952 TYR 7299 HP:0000995 Melanocytic nevus OMIM:606952 TYR 7299 HP:0005599 Hypopigmentation of hair OMIM:606952 TYR 7299 HP:0007894 Hypopigmentation of the fundus OMIM:606952 TYR 7299 HP:0007513 Generalized hypopigmentation OMIM:606952 TYR 7299 HP:0000648 Optic atrophy OMIM:606952 TYR 7299 HP:0000486 Strabismus OMIM:606952 TYR 7299 HP:0001107 Ocular albinism OMIM:606952 TYR 7299 HP:0000613 Photophobia OMIM:606952 TYR 7299 HP:0001480 Freckling OMIM:606952 TYR 7299 HP:0001022 Albinism OMIM:606952 TYR 7299 HP:0001103 Abnormality of the macula OMIM:606952 TYR 7299 HP:0000639 Nystagmus OMIM:606952 TYR 7299 HP:0000007 Autosomal recessive inheritance OMIM:606952 TYR 7299 HP:0001072 Thickened skin OMIM:616201 SGOL1 151648 HP:0011704 Sick sinus syndrome OMIM:616201 SGOL1 151648 HP:0005110 Atrial fibrillation OMIM:616201 SGOL1 151648 HP:0004749 Atrial flutter OMIM:616201 SGOL1 151648 HP:0001653 Mitral regurgitation OMIM:616201 SGOL1 151648 HP:0001508 Failure to thrive OMIM:616201 SGOL1 151648 HP:0001647 Bicuspid aortic valve OMIM:616201 SGOL1 151648 HP:0001642 Pulmonic stenosis OMIM:616201 SGOL1 151648 HP:0001662 Bradycardia OMIM:615724 HFM1 164045 HP:0008209 Premature ovarian failure OMIM:615724 HFM1 164045 HP:0000007 Autosomal recessive inheritance OMIM:615724 HFM1 164045 HP:0000837 Increased circulating gonadotropin level OMIM:615724 HFM1 164045 HP:0000141 Amenorrhea OMIM:614077 BLOC1S3 388552 HP:0000505 Visual impairment OMIM:614077 BLOC1S3 388552 HP:0001107 Ocular albinism OMIM:614077 BLOC1S3 388552 HP:0001022 Albinism OMIM:614077 BLOC1S3 388552 HP:0000978 Bruising susceptibility OMIM:614077 BLOC1S3 388552 HP:0000007 Autosomal recessive inheritance OMIM:606545 ALOXE3 59344 HP:0007479 Congenital nonbullous ichthyosiform erythroderma OMIM:606545 ALOXE3 59344 HP:0000007 Autosomal recessive inheritance OMIM:606545 ALOXE3 59344 HP:0000962 Hyperkeratosis OMIM:257920 MASP1 5648 HP:0000316 Hypertelorism OMIM:257920 MASP1 5648 HP:0000007 Autosomal recessive inheritance OMIM:257920 MASP1 5648 HP:0000524 Conjunctival telangiectasia OMIM:257920 MASP1 5648 HP:0000204 Cleft upper lip OMIM:257920 MASP1 5648 HP:0000252 Microcephaly OMIM:257920 MASP1 5648 HP:0002553 Highly arched eyebrow OMIM:257920 MASP1 5648 HP:0008897 Postnatal growth retardation OMIM:257920 MASP1 5648 HP:0004209 Clinodactyly of the 5th finger OMIM:257920 MASP1 5648 HP:0001256 Intellectual disability, mild OMIM:257920 MASP1 5648 HP:0004440 Coronal craniosynostosis OMIM:257920 MASP1 5648 HP:0002678 Skull asymmetry OMIM:257920 MASP1 5648 HP:0009237 Short 5th finger OMIM:257920 MASP1 5648 HP:0000126 Hydronephrosis OMIM:257920 MASP1 5648 HP:0000405 Conductive hearing impairment OMIM:257920 MASP1 5648 HP:0000537 Epicanthus inversus OMIM:257920 MASP1 5648 HP:0002558 Supernumerary nipple OMIM:257920 MASP1 5648 HP:0001773 Short foot OMIM:257920 MASP1 5648 HP:0001510 Growth delay OMIM:257920 MASP1 5648 HP:0000260 Wide anterior fontanel OMIM:257920 MASP1 5648 HP:0000678 Dental crowding OMIM:257920 MASP1 5648 HP:0009891 Underdeveloped supraorbital ridges OMIM:257920 MASP1 5648 HP:0000175 Cleft palate OMIM:257920 MASP1 5648 HP:0000501 Glaucoma OMIM:257920 MASP1 5648 HP:0000581 Blepharophimosis OMIM:257920 MASP1 5648 HP:0000496 Abnormality of eye movement OMIM:257920 MASP1 5648 HP:0000593 Abnormality of the anterior chamber OMIM:257920 MASP1 5648 HP:0001769 Broad foot OMIM:257920 MASP1 5648 HP:0004443 Lambdoidal craniosynostosis OMIM:257920 MASP1 5648 HP:0000960 Sacral dimple OMIM:257920 MASP1 5648 HP:0001539 Omphalocele OMIM:257920 MASP1 5648 HP:0006216 Single interphalangeal crease of fifth finger OMIM:257920 MASP1 5648 HP:0002974 Radioulnar synostosis OMIM:257920 MASP1 5648 HP:0003298 Spina bifida occulta OMIM:257920 MASP1 5648 HP:0000508 Ptosis OMIM:121850 PIKFYVE 200576 HP:0000006 Autosomal dominant inheritance OMIM:121850 PIKFYVE 200576 HP:0007962 Speckled corneal dystrophy OMIM:121850 PIKFYVE 200576 HP:0000613 Photophobia OMIM:261750 PHKB 5257 HP:0009051 Increased muscle glycogen content OMIM:261750 PHKB 5257 HP:0002014 Diarrhea OMIM:261750 PHKB 5257 HP:0001324 Muscle weakness OMIM:261750 PHKB 5257 HP:0004322 Short stature OMIM:261750 PHKB 5257 HP:0002240 Hepatomegaly OMIM:261750 PHKB 5257 HP:0001252 Muscular hypotonia OMIM:261750 PHKB 5257 HP:0000007 Autosomal recessive inheritance OMIM:261750 PHKB 5257 HP:0006568 Increased hepatic glycogen content OMIM:610356 KCNV2 169522 HP:0000575 Scotoma OMIM:610356 KCNV2 169522 HP:0000662 Night blindness OMIM:610356 KCNV2 169522 HP:0000545 Myopia OMIM:610356 KCNV2 169522 HP:0000666 Horizontal nystagmus OMIM:610356 KCNV2 169522 HP:0000007 Autosomal recessive inheritance OMIM:610356 KCNV2 169522 HP:0000486 Strabismus OMIM:610356 KCNV2 169522 HP:0000613 Photophobia OMIM:610356 KCNV2 169522 HP:0000483 Astigmatism OMIM:613780 MYLK 4638 HP:0004942 Aortic aneurysm OMIM:613780 MYLK 4638 HP:0000006 Autosomal dominant inheritance OMIM:613780 MYLK 4638 HP:0002647 Aortic dissection OMIM:300813 SSX2 6757 HP:0012570 Synovial sarcoma OMIM:300813 SSX2 6757 HP:0001428 Somatic mutation OMIM:300813 SSX1 6756 HP:0012570 Synovial sarcoma OMIM:300813 SSX1 6756 HP:0001428 Somatic mutation OMIM:118700 NKX2-1 7080 HP:0000006 Autosomal dominant inheritance OMIM:118700 NKX2-1 7080 HP:0002072 Chorea OMIM:118700 NKX2-1 7080 HP:0001260 Dysarthria OMIM:118700 NKX2-1 7080 HP:0001270 Motor delay OMIM:118700 NKX2-1 7080 HP:0001288 Gait disturbance OMIM:118700 NKX2-1 7080 HP:0000739 Anxiety OMIM:118700 NKX2-1 7080 HP:0003812 Phenotypic variability OMIM:118700 NKX2-1 7080 HP:0003621 Juvenile onset ORPHANET:280794 KIT 3815 HP:0008066 Abnormal blistering of the skin ORPHANET:280794 KIT 3815 HP:0100495 Mastocytosis OMIM:616005 PIK3R1 5295 HP:0002718 Recurrent bacterial infections OMIM:616005 PIK3R1 5295 HP:0002205 Recurrent respiratory infections OMIM:616005 PIK3R1 5295 HP:0002721 Immunodeficiency OMIM:616005 PIK3R1 5295 HP:0004313 Hypogammaglobulinemia OMIM:605588 LMNA 4000 HP:0003674 Onset OMIM:605588 LMNA 4000 HP:0002936 Distal sensory impairment OMIM:605588 LMNA 4000 HP:0003384 Peripheral axonal atrophy OMIM:605588 LMNA 4000 HP:0000007 Autosomal recessive inheritance OMIM:605588 LMNA 4000 HP:0003383 Onion bulb formation OMIM:605588 LMNA 4000 HP:0001761 Pes cavus OMIM:605588 LMNA 4000 HP:0001284 Areflexia OMIM:605588 LMNA 4000 HP:0002460 Distal muscle weakness OMIM:605588 LMNA 4000 HP:0009027 Foot dorsiflexor weakness OMIM:605588 LMNA 4000 HP:0003431 Decreased motor nerve conduction velocity OMIM:605588 LMNA 4000 HP:0001265 Hyporeflexia OMIM:605588 LMNA 4000 HP:0002751 Kyphoscoliosis OMIM:605588 LMNA 4000 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:605588 LMNA 4000 HP:0003484 Upper limb muscle weakness OMIM:605588 LMNA 4000 HP:0003693 Distal amyotrophy OMIM:605588 LMNA 4000 HP:0003376 Steppage gait OMIM:605588 LMNA 4000 HP:0003378 Axonal degeneration/regeneration ORPHANET:201 AKT1 207 HP:0002858 Meningioma ORPHANET:201 AKT1 207 HP:0000147 Polycystic ovaries ORPHANET:201 AKT1 207 HP:0000767 Pectus excavatum ORPHANET:201 AKT1 207 HP:0000545 Myopia ORPHANET:201 AKT1 207 HP:0000221 Furrowed tongue ORPHANET:201 AKT1 207 HP:0001903 Anemia ORPHANET:201 AKT1 207 HP:0100013 Neoplasm of the breast ORPHANET:201 AKT1 207 HP:0002861 Melanoma ORPHANET:201 AKT1 207 HP:0001156 Brachydactyly syndrome ORPHANET:201 AKT1 207 HP:0100615 Ovarian neoplasm ORPHANET:201 AKT1 207 HP:0000212 Gingival overgrowth ORPHANET:201 AKT1 207 HP:0000853 Goiter ORPHANET:201 AKT1 207 HP:0001012 Multiple lipomas ORPHANET:201 AKT1 207 HP:0001034 Hypermelanotic macule ORPHANET:201 AKT1 207 HP:0009726 Renal neoplasm ORPHANET:201 AKT1 207 HP:0008046 Abnormality of the retinal vasculature ORPHANET:201 AKT1 207 HP:0000268 Dolichocephaly ORPHANET:201 AKT1 207 HP:0200008 Intestinal polyposis ORPHANET:201 AKT1 207 HP:0002808 Kyphosis ORPHANET:201 AKT1 207 HP:0000164 Abnormality of the teeth ORPHANET:201 AKT1 207 HP:0009720 Adenoma sebaceum ORPHANET:201 AKT1 207 HP:0000995 Melanocytic nevus ORPHANET:201 AKT1 207 HP:0012062 Bone cyst ORPHANET:201 AKT1 207 HP:0000771 Gynecomastia ORPHANET:201 AKT1 207 HP:0000998 Hypertrichosis ORPHANET:201 AKT1 207 HP:0001048 Cavernous hemangioma ORPHANET:201 AKT1 207 HP:0100579 Mucosal telangiectasiae ORPHANET:201 AKT1 207 HP:0002239 Gastrointestinal hemorrhage ORPHANET:201 AKT1 207 HP:0000982 Palmoplantar keratoderma ORPHANET:201 AKT1 207 HP:0200043 Verrucae ORPHANET:201 AKT1 207 HP:0000518 Cataract ORPHANET:201 AKT1 207 HP:0000365 Hearing impairment ORPHANET:201 AKT1 207 HP:0100031 Neoplasm of the thyroid gland ORPHANET:201 AKT1 207 HP:0001053 Hypopigmented skin patches ORPHANET:201 AKT1 207 HP:0100780 Conjunctival hamartoma ORPHANET:201 AKT1 207 HP:0000957 Cafe-au-lait spot ORPHANET:201 AKT1 207 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:201 AKT1 207 HP:0001250 Seizures ORPHANET:201 AKT1 207 HP:0000174 Abnormality of the palate ORPHANET:201 AKT1 207 HP:0004322 Short stature ORPHANET:201 AKT1 207 HP:0000036 Abnormality of the penis ORPHANET:201 AKT1 207 HP:0010784 Uterine neoplasm ORPHANET:201 AKT1 207 HP:0000717 Autism ORPHANET:201 AKT1 207 HP:0000256 Macrocephaly ORPHANET:201 AKT1 207 HP:0002650 Scoliosis ORPHANET:201 AKT1 207 HP:0002516 Increased intracranial pressure ORPHANET:201 SDHD 6392 HP:0002858 Meningioma ORPHANET:201 SDHD 6392 HP:0000147 Polycystic ovaries ORPHANET:201 SDHD 6392 HP:0000767 Pectus excavatum ORPHANET:201 SDHD 6392 HP:0000545 Myopia ORPHANET:201 SDHD 6392 HP:0000221 Furrowed tongue ORPHANET:201 SDHD 6392 HP:0001903 Anemia ORPHANET:201 SDHD 6392 HP:0100013 Neoplasm of the breast ORPHANET:201 SDHD 6392 HP:0002861 Melanoma ORPHANET:201 SDHD 6392 HP:0001156 Brachydactyly syndrome ORPHANET:201 SDHD 6392 HP:0100615 Ovarian neoplasm ORPHANET:201 SDHD 6392 HP:0000212 Gingival overgrowth ORPHANET:201 SDHD 6392 HP:0000853 Goiter ORPHANET:201 SDHD 6392 HP:0001012 Multiple lipomas ORPHANET:201 SDHD 6392 HP:0001034 Hypermelanotic macule ORPHANET:201 SDHD 6392 HP:0009726 Renal neoplasm ORPHANET:201 SDHD 6392 HP:0008046 Abnormality of the retinal vasculature ORPHANET:201 SDHD 6392 HP:0000268 Dolichocephaly ORPHANET:201 SDHD 6392 HP:0200008 Intestinal polyposis ORPHANET:201 SDHD 6392 HP:0002808 Kyphosis ORPHANET:201 SDHD 6392 HP:0000164 Abnormality of the teeth ORPHANET:201 SDHD 6392 HP:0009720 Adenoma sebaceum ORPHANET:201 SDHD 6392 HP:0000995 Melanocytic nevus ORPHANET:201 SDHD 6392 HP:0012062 Bone cyst ORPHANET:201 SDHD 6392 HP:0000771 Gynecomastia ORPHANET:201 SDHD 6392 HP:0000998 Hypertrichosis ORPHANET:201 SDHD 6392 HP:0001048 Cavernous hemangioma ORPHANET:201 SDHD 6392 HP:0100579 Mucosal telangiectasiae ORPHANET:201 SDHD 6392 HP:0002239 Gastrointestinal hemorrhage ORPHANET:201 SDHD 6392 HP:0000982 Palmoplantar keratoderma ORPHANET:201 SDHD 6392 HP:0200043 Verrucae ORPHANET:201 SDHD 6392 HP:0000518 Cataract ORPHANET:201 SDHD 6392 HP:0000365 Hearing impairment ORPHANET:201 SDHD 6392 HP:0100031 Neoplasm of the thyroid gland ORPHANET:201 SDHD 6392 HP:0001053 Hypopigmented skin patches ORPHANET:201 SDHD 6392 HP:0100780 Conjunctival hamartoma ORPHANET:201 SDHD 6392 HP:0000957 Cafe-au-lait spot ORPHANET:201 SDHD 6392 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:201 SDHD 6392 HP:0001250 Seizures ORPHANET:201 SDHD 6392 HP:0000174 Abnormality of the palate ORPHANET:201 SDHD 6392 HP:0004322 Short stature ORPHANET:201 SDHD 6392 HP:0000036 Abnormality of the penis ORPHANET:201 SDHD 6392 HP:0010784 Uterine neoplasm ORPHANET:201 SDHD 6392 HP:0000717 Autism ORPHANET:201 SDHD 6392 HP:0000256 Macrocephaly ORPHANET:201 SDHD 6392 HP:0002650 Scoliosis ORPHANET:201 SDHD 6392 HP:0002516 Increased intracranial pressure ORPHANET:201 SDHC 6391 HP:0002858 Meningioma ORPHANET:201 SDHC 6391 HP:0000147 Polycystic ovaries ORPHANET:201 SDHC 6391 HP:0000767 Pectus excavatum ORPHANET:201 SDHC 6391 HP:0000545 Myopia ORPHANET:201 SDHC 6391 HP:0000221 Furrowed tongue ORPHANET:201 SDHC 6391 HP:0001903 Anemia ORPHANET:201 SDHC 6391 HP:0100013 Neoplasm of the breast ORPHANET:201 SDHC 6391 HP:0002861 Melanoma ORPHANET:201 SDHC 6391 HP:0001156 Brachydactyly syndrome ORPHANET:201 SDHC 6391 HP:0100615 Ovarian neoplasm ORPHANET:201 SDHC 6391 HP:0000212 Gingival overgrowth ORPHANET:201 SDHC 6391 HP:0000853 Goiter ORPHANET:201 SDHC 6391 HP:0001012 Multiple lipomas ORPHANET:201 SDHC 6391 HP:0001034 Hypermelanotic macule ORPHANET:201 SDHC 6391 HP:0009726 Renal neoplasm ORPHANET:201 SDHC 6391 HP:0008046 Abnormality of the retinal vasculature ORPHANET:201 SDHC 6391 HP:0000268 Dolichocephaly ORPHANET:201 SDHC 6391 HP:0200008 Intestinal polyposis ORPHANET:201 SDHC 6391 HP:0002808 Kyphosis ORPHANET:201 SDHC 6391 HP:0000164 Abnormality of the teeth ORPHANET:201 SDHC 6391 HP:0009720 Adenoma sebaceum ORPHANET:201 SDHC 6391 HP:0000995 Melanocytic nevus ORPHANET:201 SDHC 6391 HP:0012062 Bone cyst ORPHANET:201 SDHC 6391 HP:0000771 Gynecomastia ORPHANET:201 SDHC 6391 HP:0000998 Hypertrichosis ORPHANET:201 SDHC 6391 HP:0001048 Cavernous hemangioma ORPHANET:201 SDHC 6391 HP:0100579 Mucosal telangiectasiae ORPHANET:201 SDHC 6391 HP:0002239 Gastrointestinal hemorrhage ORPHANET:201 SDHC 6391 HP:0000982 Palmoplantar keratoderma ORPHANET:201 SDHC 6391 HP:0200043 Verrucae ORPHANET:201 SDHC 6391 HP:0000518 Cataract ORPHANET:201 SDHC 6391 HP:0000365 Hearing impairment ORPHANET:201 SDHC 6391 HP:0100031 Neoplasm of the thyroid gland ORPHANET:201 SDHC 6391 HP:0001053 Hypopigmented skin patches ORPHANET:201 SDHC 6391 HP:0100780 Conjunctival hamartoma ORPHANET:201 SDHC 6391 HP:0000957 Cafe-au-lait spot ORPHANET:201 SDHC 6391 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:201 SDHC 6391 HP:0001250 Seizures ORPHANET:201 SDHC 6391 HP:0000174 Abnormality of the palate ORPHANET:201 SDHC 6391 HP:0004322 Short stature ORPHANET:201 SDHC 6391 HP:0000036 Abnormality of the penis ORPHANET:201 SDHC 6391 HP:0010784 Uterine neoplasm ORPHANET:201 SDHC 6391 HP:0000717 Autism ORPHANET:201 SDHC 6391 HP:0000256 Macrocephaly ORPHANET:201 SDHC 6391 HP:0002650 Scoliosis ORPHANET:201 SDHC 6391 HP:0002516 Increased intracranial pressure ORPHANET:201 PIK3CA 5290 HP:0002858 Meningioma ORPHANET:201 PIK3CA 5290 HP:0000147 Polycystic ovaries ORPHANET:201 PIK3CA 5290 HP:0000767 Pectus excavatum ORPHANET:201 PIK3CA 5290 HP:0000545 Myopia ORPHANET:201 PIK3CA 5290 HP:0000221 Furrowed tongue ORPHANET:201 PIK3CA 5290 HP:0001903 Anemia ORPHANET:201 PIK3CA 5290 HP:0100013 Neoplasm of the breast ORPHANET:201 PIK3CA 5290 HP:0002861 Melanoma ORPHANET:201 PIK3CA 5290 HP:0001156 Brachydactyly syndrome ORPHANET:201 PIK3CA 5290 HP:0100615 Ovarian neoplasm ORPHANET:201 PIK3CA 5290 HP:0000212 Gingival overgrowth ORPHANET:201 PIK3CA 5290 HP:0000853 Goiter ORPHANET:201 PIK3CA 5290 HP:0001012 Multiple lipomas ORPHANET:201 PIK3CA 5290 HP:0001034 Hypermelanotic macule ORPHANET:201 PIK3CA 5290 HP:0009726 Renal neoplasm ORPHANET:201 PIK3CA 5290 HP:0008046 Abnormality of the retinal vasculature ORPHANET:201 PIK3CA 5290 HP:0000268 Dolichocephaly ORPHANET:201 PIK3CA 5290 HP:0200008 Intestinal polyposis ORPHANET:201 PIK3CA 5290 HP:0002808 Kyphosis ORPHANET:201 PIK3CA 5290 HP:0000164 Abnormality of the teeth ORPHANET:201 PIK3CA 5290 HP:0009720 Adenoma sebaceum ORPHANET:201 PIK3CA 5290 HP:0000995 Melanocytic nevus ORPHANET:201 PIK3CA 5290 HP:0012062 Bone cyst ORPHANET:201 PIK3CA 5290 HP:0000771 Gynecomastia ORPHANET:201 PIK3CA 5290 HP:0000998 Hypertrichosis ORPHANET:201 PIK3CA 5290 HP:0001048 Cavernous hemangioma ORPHANET:201 PIK3CA 5290 HP:0100579 Mucosal telangiectasiae ORPHANET:201 PIK3CA 5290 HP:0002239 Gastrointestinal hemorrhage ORPHANET:201 PIK3CA 5290 HP:0000982 Palmoplantar keratoderma ORPHANET:201 PIK3CA 5290 HP:0200043 Verrucae ORPHANET:201 PIK3CA 5290 HP:0000518 Cataract ORPHANET:201 PIK3CA 5290 HP:0000365 Hearing impairment ORPHANET:201 PIK3CA 5290 HP:0100031 Neoplasm of the thyroid gland ORPHANET:201 PIK3CA 5290 HP:0001053 Hypopigmented skin patches ORPHANET:201 PIK3CA 5290 HP:0100780 Conjunctival hamartoma ORPHANET:201 PIK3CA 5290 HP:0000957 Cafe-au-lait spot ORPHANET:201 PIK3CA 5290 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:201 PIK3CA 5290 HP:0001250 Seizures ORPHANET:201 PIK3CA 5290 HP:0000174 Abnormality of the palate ORPHANET:201 PIK3CA 5290 HP:0004322 Short stature ORPHANET:201 PIK3CA 5290 HP:0000036 Abnormality of the penis ORPHANET:201 PIK3CA 5290 HP:0010784 Uterine neoplasm ORPHANET:201 PIK3CA 5290 HP:0000717 Autism ORPHANET:201 PIK3CA 5290 HP:0000256 Macrocephaly ORPHANET:201 PIK3CA 5290 HP:0002650 Scoliosis ORPHANET:201 PIK3CA 5290 HP:0002516 Increased intracranial pressure ORPHANET:201 SDHB 6390 HP:0002858 Meningioma ORPHANET:201 SDHB 6390 HP:0000147 Polycystic ovaries ORPHANET:201 SDHB 6390 HP:0000767 Pectus excavatum ORPHANET:201 SDHB 6390 HP:0000545 Myopia ORPHANET:201 SDHB 6390 HP:0000221 Furrowed tongue ORPHANET:201 SDHB 6390 HP:0001903 Anemia ORPHANET:201 SDHB 6390 HP:0100013 Neoplasm of the breast ORPHANET:201 SDHB 6390 HP:0002861 Melanoma ORPHANET:201 SDHB 6390 HP:0001156 Brachydactyly syndrome ORPHANET:201 SDHB 6390 HP:0100615 Ovarian neoplasm ORPHANET:201 SDHB 6390 HP:0000212 Gingival overgrowth ORPHANET:201 SDHB 6390 HP:0000853 Goiter ORPHANET:201 SDHB 6390 HP:0001012 Multiple lipomas ORPHANET:201 SDHB 6390 HP:0001034 Hypermelanotic macule ORPHANET:201 SDHB 6390 HP:0009726 Renal neoplasm ORPHANET:201 SDHB 6390 HP:0008046 Abnormality of the retinal vasculature ORPHANET:201 SDHB 6390 HP:0000268 Dolichocephaly ORPHANET:201 SDHB 6390 HP:0200008 Intestinal polyposis ORPHANET:201 SDHB 6390 HP:0002808 Kyphosis ORPHANET:201 SDHB 6390 HP:0000164 Abnormality of the teeth ORPHANET:201 SDHB 6390 HP:0009720 Adenoma sebaceum ORPHANET:201 SDHB 6390 HP:0000995 Melanocytic nevus ORPHANET:201 SDHB 6390 HP:0012062 Bone cyst ORPHANET:201 SDHB 6390 HP:0000771 Gynecomastia ORPHANET:201 SDHB 6390 HP:0000998 Hypertrichosis ORPHANET:201 SDHB 6390 HP:0001048 Cavernous hemangioma ORPHANET:201 SDHB 6390 HP:0100579 Mucosal telangiectasiae ORPHANET:201 SDHB 6390 HP:0002239 Gastrointestinal hemorrhage ORPHANET:201 SDHB 6390 HP:0000982 Palmoplantar keratoderma ORPHANET:201 SDHB 6390 HP:0200043 Verrucae ORPHANET:201 SDHB 6390 HP:0000518 Cataract ORPHANET:201 SDHB 6390 HP:0000365 Hearing impairment ORPHANET:201 SDHB 6390 HP:0100031 Neoplasm of the thyroid gland ORPHANET:201 SDHB 6390 HP:0001053 Hypopigmented skin patches ORPHANET:201 SDHB 6390 HP:0100780 Conjunctival hamartoma ORPHANET:201 SDHB 6390 HP:0000957 Cafe-au-lait spot ORPHANET:201 SDHB 6390 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:201 SDHB 6390 HP:0001250 Seizures ORPHANET:201 SDHB 6390 HP:0000174 Abnormality of the palate ORPHANET:201 SDHB 6390 HP:0004322 Short stature ORPHANET:201 SDHB 6390 HP:0000036 Abnormality of the penis ORPHANET:201 SDHB 6390 HP:0010784 Uterine neoplasm ORPHANET:201 SDHB 6390 HP:0000717 Autism ORPHANET:201 SDHB 6390 HP:0000256 Macrocephaly ORPHANET:201 SDHB 6390 HP:0002650 Scoliosis ORPHANET:201 SDHB 6390 HP:0002516 Increased intracranial pressure ORPHANET:201 KLLN 100144748 HP:0002858 Meningioma ORPHANET:201 KLLN 100144748 HP:0000147 Polycystic ovaries ORPHANET:201 KLLN 100144748 HP:0000767 Pectus excavatum ORPHANET:201 KLLN 100144748 HP:0000545 Myopia ORPHANET:201 KLLN 100144748 HP:0000221 Furrowed tongue ORPHANET:201 KLLN 100144748 HP:0001903 Anemia ORPHANET:201 KLLN 100144748 HP:0100013 Neoplasm of the breast ORPHANET:201 KLLN 100144748 HP:0002861 Melanoma ORPHANET:201 KLLN 100144748 HP:0001156 Brachydactyly syndrome ORPHANET:201 KLLN 100144748 HP:0100615 Ovarian neoplasm ORPHANET:201 KLLN 100144748 HP:0000212 Gingival overgrowth ORPHANET:201 KLLN 100144748 HP:0000853 Goiter ORPHANET:201 KLLN 100144748 HP:0001012 Multiple lipomas ORPHANET:201 KLLN 100144748 HP:0001034 Hypermelanotic macule ORPHANET:201 KLLN 100144748 HP:0009726 Renal neoplasm ORPHANET:201 KLLN 100144748 HP:0008046 Abnormality of the retinal vasculature ORPHANET:201 KLLN 100144748 HP:0000268 Dolichocephaly ORPHANET:201 KLLN 100144748 HP:0200008 Intestinal polyposis ORPHANET:201 KLLN 100144748 HP:0002808 Kyphosis ORPHANET:201 KLLN 100144748 HP:0000164 Abnormality of the teeth ORPHANET:201 KLLN 100144748 HP:0009720 Adenoma sebaceum ORPHANET:201 KLLN 100144748 HP:0000995 Melanocytic nevus ORPHANET:201 KLLN 100144748 HP:0012062 Bone cyst ORPHANET:201 KLLN 100144748 HP:0000771 Gynecomastia ORPHANET:201 KLLN 100144748 HP:0000998 Hypertrichosis ORPHANET:201 KLLN 100144748 HP:0001048 Cavernous hemangioma ORPHANET:201 KLLN 100144748 HP:0100579 Mucosal telangiectasiae ORPHANET:201 KLLN 100144748 HP:0002239 Gastrointestinal hemorrhage ORPHANET:201 KLLN 100144748 HP:0000982 Palmoplantar keratoderma ORPHANET:201 KLLN 100144748 HP:0200043 Verrucae ORPHANET:201 KLLN 100144748 HP:0000518 Cataract ORPHANET:201 KLLN 100144748 HP:0000365 Hearing impairment ORPHANET:201 KLLN 100144748 HP:0100031 Neoplasm of the thyroid gland ORPHANET:201 KLLN 100144748 HP:0001053 Hypopigmented skin patches ORPHANET:201 KLLN 100144748 HP:0100780 Conjunctival hamartoma ORPHANET:201 KLLN 100144748 HP:0000957 Cafe-au-lait spot ORPHANET:201 KLLN 100144748 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:201 KLLN 100144748 HP:0001250 Seizures ORPHANET:201 KLLN 100144748 HP:0000174 Abnormality of the palate ORPHANET:201 KLLN 100144748 HP:0004322 Short stature ORPHANET:201 KLLN 100144748 HP:0000036 Abnormality of the penis ORPHANET:201 KLLN 100144748 HP:0010784 Uterine neoplasm ORPHANET:201 KLLN 100144748 HP:0000717 Autism ORPHANET:201 KLLN 100144748 HP:0000256 Macrocephaly ORPHANET:201 KLLN 100144748 HP:0002650 Scoliosis ORPHANET:201 KLLN 100144748 HP:0002516 Increased intracranial pressure ORPHANET:201 PTEN 5728 HP:0002858 Meningioma ORPHANET:201 PTEN 5728 HP:0000147 Polycystic ovaries ORPHANET:201 PTEN 5728 HP:0000767 Pectus excavatum ORPHANET:201 PTEN 5728 HP:0000545 Myopia ORPHANET:201 PTEN 5728 HP:0000221 Furrowed tongue ORPHANET:201 PTEN 5728 HP:0001903 Anemia ORPHANET:201 PTEN 5728 HP:0100013 Neoplasm of the breast ORPHANET:201 PTEN 5728 HP:0002861 Melanoma ORPHANET:201 PTEN 5728 HP:0001156 Brachydactyly syndrome ORPHANET:201 PTEN 5728 HP:0100615 Ovarian neoplasm ORPHANET:201 PTEN 5728 HP:0000212 Gingival overgrowth ORPHANET:201 PTEN 5728 HP:0000853 Goiter ORPHANET:201 PTEN 5728 HP:0001012 Multiple lipomas ORPHANET:201 PTEN 5728 HP:0001034 Hypermelanotic macule ORPHANET:201 PTEN 5728 HP:0009726 Renal neoplasm ORPHANET:201 PTEN 5728 HP:0008046 Abnormality of the retinal vasculature ORPHANET:201 PTEN 5728 HP:0000268 Dolichocephaly ORPHANET:201 PTEN 5728 HP:0200008 Intestinal polyposis ORPHANET:201 PTEN 5728 HP:0002808 Kyphosis ORPHANET:201 PTEN 5728 HP:0000164 Abnormality of the teeth ORPHANET:201 PTEN 5728 HP:0009720 Adenoma sebaceum ORPHANET:201 PTEN 5728 HP:0000995 Melanocytic nevus ORPHANET:201 PTEN 5728 HP:0012062 Bone cyst ORPHANET:201 PTEN 5728 HP:0000771 Gynecomastia ORPHANET:201 PTEN 5728 HP:0000998 Hypertrichosis ORPHANET:201 PTEN 5728 HP:0001048 Cavernous hemangioma ORPHANET:201 PTEN 5728 HP:0100579 Mucosal telangiectasiae ORPHANET:201 PTEN 5728 HP:0002239 Gastrointestinal hemorrhage ORPHANET:201 PTEN 5728 HP:0000982 Palmoplantar keratoderma ORPHANET:201 PTEN 5728 HP:0200043 Verrucae ORPHANET:201 PTEN 5728 HP:0000518 Cataract ORPHANET:201 PTEN 5728 HP:0000365 Hearing impairment ORPHANET:201 PTEN 5728 HP:0100031 Neoplasm of the thyroid gland ORPHANET:201 PTEN 5728 HP:0001053 Hypopigmented skin patches ORPHANET:201 PTEN 5728 HP:0100780 Conjunctival hamartoma ORPHANET:201 PTEN 5728 HP:0000957 Cafe-au-lait spot ORPHANET:201 PTEN 5728 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:201 PTEN 5728 HP:0001250 Seizures ORPHANET:201 PTEN 5728 HP:0000174 Abnormality of the palate ORPHANET:201 PTEN 5728 HP:0004322 Short stature ORPHANET:201 PTEN 5728 HP:0000036 Abnormality of the penis ORPHANET:201 PTEN 5728 HP:0010784 Uterine neoplasm ORPHANET:201 PTEN 5728 HP:0000717 Autism ORPHANET:201 PTEN 5728 HP:0000256 Macrocephaly ORPHANET:201 PTEN 5728 HP:0002650 Scoliosis ORPHANET:201 PTEN 5728 HP:0002516 Increased intracranial pressure OMIM:610599 PRCD 768206 HP:0007843 Attenuation of retinal blood vessels OMIM:610599 PRCD 768206 HP:0000608 Macular degeneration OMIM:610599 PRCD 768206 HP:0000510 Retinitis pigmentosa OMIM:610599 PRCD 768206 HP:0000550 Abolished electroretinogram (ERG) OMIM:610599 PRCD 768206 HP:0007737 Bony spicule pigmentary retinopathy OMIM:610599 PRCD 768206 HP:0000543 Optic disc pallor OMIM:610599 PRCD 768206 HP:0000007 Autosomal recessive inheritance OMIM:165300 OPA3 80207 HP:0000505 Visual impairment OMIM:165300 OPA3 80207 HP:0001337 Tremor OMIM:165300 OPA3 80207 HP:0002071 Abnormality of extrapyramidal motor function OMIM:165300 OPA3 80207 HP:0000648 Optic atrophy OMIM:165300 OPA3 80207 HP:0000006 Autosomal dominant inheritance OMIM:165300 OPA3 80207 HP:0000518 Cataract OMIM:600625 BMP4 652 HP:0000202 Oral cleft OMIM:600625 BMP4 652 HP:0001472 Familial predisposition OMIM:600625 BMP4 652 HP:0002006 Facial cleft OMIM:608808 MED13L 23389 HP:0001669 Transposition of the great arteries OMIM:616050 NLRC4 58484 HP:0002829 Arthralgia OMIM:616050 NLRC4 58484 HP:0004387 Enterocolitis OMIM:616050 NLRC4 58484 HP:0003281 Increased serum ferritin OMIM:616050 NLRC4 58484 HP:0001945 Fever OMIM:616050 NLRC4 58484 HP:0001876 Pancytopenia OMIM:616050 NLRC4 58484 HP:0001508 Failure to thrive OMIM:616050 NLRC4 58484 HP:0004322 Short stature OMIM:616050 NLRC4 58484 HP:0005521 Disseminated intravascular coagulation OMIM:616050 NLRC4 58484 HP:0003326 Myalgia OMIM:616050 NLRC4 58484 HP:0001744 Splenomegaly OMIM:612132 NFKBIA 4792 HP:0007476 Anhidrotic ectodermal dysplasia OMIM:612132 NFKBIA 4792 HP:0011120 Concave nasal ridge OMIM:612132 NFKBIA 4792 HP:0002007 Frontal bossing OMIM:612132 NFKBIA 4792 HP:0003593 Infantile onset OMIM:612132 NFKBIA 4792 HP:0002046 Heat intolerance OMIM:612132 NFKBIA 4792 HP:0000970 Anhidrosis OMIM:612132 NFKBIA 4792 HP:0008070 Sparse hair OMIM:612132 NFKBIA 4792 HP:0011136 Aplasia of the sweat glands OMIM:612132 NFKBIA 4792 HP:0000006 Autosomal dominant inheritance OMIM:612132 NFKBIA 4792 HP:0004798 Recurrent infection of the gastrointestinal tract OMIM:612132 NFKBIA 4792 HP:0000668 Hypodontia OMIM:612132 NFKBIA 4792 HP:0002205 Recurrent respiratory infections OMIM:612132 NFKBIA 4792 HP:0000698 Conical tooth OMIM:612132 NFKBIA 4792 HP:0000966 Hypohidrosis ORPHANET:3095 CDKL5 6792 HP:0001276 Hypertonia ORPHANET:3095 CDKL5 6792 HP:0002650 Scoliosis ORPHANET:3095 CDKL5 6792 HP:0001824 Weight loss ORPHANET:3095 CDKL5 6792 HP:0001156 Brachydactyly syndrome ORPHANET:3095 CDKL5 6792 HP:0001250 Seizures ORPHANET:3095 CDKL5 6792 HP:0002376 Developmental regression ORPHANET:3095 CDKL5 6792 HP:0100543 Cognitive impairment ORPHANET:3095 CDKL5 6792 HP:0002311 Incoordination ORPHANET:3095 CDKL5 6792 HP:0001252 Muscular hypotonia ORPHANET:3095 CDKL5 6792 HP:0000252 Microcephaly ORPHANET:3095 CDKL5 6792 HP:0002270 Abnormality of the autonomic nervous system ORPHANET:3095 CDKL5 6792 HP:0001831 Short toe ORPHANET:3095 CDKL5 6792 HP:0000733 Stereotypic behavior ORPHANET:3095 CDKL5 6792 HP:0002353 EEG abnormality ORPHANET:3095 CDKL5 6792 HP:0001063 Acrocyanosis ORPHANET:3095 CDKL5 6792 HP:0004374 Hemiplegia/hemiparesis ORPHANET:3095 CDKL5 6792 HP:0002167 Neurological speech impairment ORPHANET:3095 CDKL5 6792 HP:0000717 Autism ORPHANET:3095 CDKL5 6792 HP:0002360 Sleep disturbance ORPHANET:3095 CDKL5 6792 HP:0001288 Gait disturbance ORPHANET:3095 CDKL5 6792 HP:0011675 Arrhythmia ORPHANET:3095 CDKL5 6792 HP:0000478 Abnormality of the eye ORPHANET:3095 CDKL5 6792 HP:0002793 Abnormal pattern of respiration ORPHANET:3095 CDKL5 6792 HP:0001513 Obesity ORPHANET:3095 CDKL5 6792 HP:0004349 Reduced bone mineral density ORPHANET:3095 CDKL5 6792 HP:0002213 Fine hair ORPHANET:3095 NTNG1 22854 HP:0001276 Hypertonia ORPHANET:3095 NTNG1 22854 HP:0002650 Scoliosis ORPHANET:3095 NTNG1 22854 HP:0001824 Weight loss ORPHANET:3095 NTNG1 22854 HP:0001156 Brachydactyly syndrome ORPHANET:3095 NTNG1 22854 HP:0001250 Seizures ORPHANET:3095 NTNG1 22854 HP:0002376 Developmental regression ORPHANET:3095 NTNG1 22854 HP:0100543 Cognitive impairment ORPHANET:3095 NTNG1 22854 HP:0002311 Incoordination ORPHANET:3095 NTNG1 22854 HP:0001252 Muscular hypotonia ORPHANET:3095 NTNG1 22854 HP:0000252 Microcephaly ORPHANET:3095 NTNG1 22854 HP:0002270 Abnormality of the autonomic nervous system ORPHANET:3095 NTNG1 22854 HP:0001831 Short toe ORPHANET:3095 NTNG1 22854 HP:0000733 Stereotypic behavior ORPHANET:3095 NTNG1 22854 HP:0002353 EEG abnormality ORPHANET:3095 NTNG1 22854 HP:0001063 Acrocyanosis ORPHANET:3095 NTNG1 22854 HP:0004374 Hemiplegia/hemiparesis ORPHANET:3095 NTNG1 22854 HP:0002167 Neurological speech impairment ORPHANET:3095 NTNG1 22854 HP:0000717 Autism ORPHANET:3095 NTNG1 22854 HP:0002360 Sleep disturbance ORPHANET:3095 NTNG1 22854 HP:0001288 Gait disturbance ORPHANET:3095 NTNG1 22854 HP:0011675 Arrhythmia ORPHANET:3095 NTNG1 22854 HP:0000478 Abnormality of the eye ORPHANET:3095 NTNG1 22854 HP:0002793 Abnormal pattern of respiration ORPHANET:3095 NTNG1 22854 HP:0001513 Obesity ORPHANET:3095 NTNG1 22854 HP:0004349 Reduced bone mineral density ORPHANET:3095 NTNG1 22854 HP:0002213 Fine hair ORPHANET:3095 MECP2 4204 HP:0001276 Hypertonia ORPHANET:3095 MECP2 4204 HP:0002650 Scoliosis ORPHANET:3095 MECP2 4204 HP:0001824 Weight loss ORPHANET:3095 MECP2 4204 HP:0001156 Brachydactyly syndrome ORPHANET:3095 MECP2 4204 HP:0001250 Seizures ORPHANET:3095 MECP2 4204 HP:0002376 Developmental regression ORPHANET:3095 MECP2 4204 HP:0100543 Cognitive impairment ORPHANET:3095 MECP2 4204 HP:0002311 Incoordination ORPHANET:3095 MECP2 4204 HP:0001252 Muscular hypotonia ORPHANET:3095 MECP2 4204 HP:0000252 Microcephaly ORPHANET:3095 MECP2 4204 HP:0002270 Abnormality of the autonomic nervous system ORPHANET:3095 MECP2 4204 HP:0001831 Short toe ORPHANET:3095 MECP2 4204 HP:0000733 Stereotypic behavior ORPHANET:3095 MECP2 4204 HP:0002353 EEG abnormality ORPHANET:3095 MECP2 4204 HP:0001063 Acrocyanosis ORPHANET:3095 MECP2 4204 HP:0004374 Hemiplegia/hemiparesis ORPHANET:3095 MECP2 4204 HP:0002167 Neurological speech impairment ORPHANET:3095 MECP2 4204 HP:0000717 Autism ORPHANET:3095 MECP2 4204 HP:0002360 Sleep disturbance ORPHANET:3095 MECP2 4204 HP:0001288 Gait disturbance ORPHANET:3095 MECP2 4204 HP:0011675 Arrhythmia ORPHANET:3095 MECP2 4204 HP:0000478 Abnormality of the eye ORPHANET:3095 MECP2 4204 HP:0002793 Abnormal pattern of respiration ORPHANET:3095 MECP2 4204 HP:0001513 Obesity ORPHANET:3095 MECP2 4204 HP:0004349 Reduced bone mineral density ORPHANET:3095 MECP2 4204 HP:0002213 Fine hair ORPHANET:3095 FOXG1 2290 HP:0001276 Hypertonia ORPHANET:3095 FOXG1 2290 HP:0002650 Scoliosis ORPHANET:3095 FOXG1 2290 HP:0001824 Weight loss ORPHANET:3095 FOXG1 2290 HP:0001156 Brachydactyly syndrome ORPHANET:3095 FOXG1 2290 HP:0001250 Seizures ORPHANET:3095 FOXG1 2290 HP:0002376 Developmental regression ORPHANET:3095 FOXG1 2290 HP:0100543 Cognitive impairment ORPHANET:3095 FOXG1 2290 HP:0002311 Incoordination ORPHANET:3095 FOXG1 2290 HP:0001252 Muscular hypotonia ORPHANET:3095 FOXG1 2290 HP:0000252 Microcephaly ORPHANET:3095 FOXG1 2290 HP:0002270 Abnormality of the autonomic nervous system ORPHANET:3095 FOXG1 2290 HP:0001831 Short toe ORPHANET:3095 FOXG1 2290 HP:0000733 Stereotypic behavior ORPHANET:3095 FOXG1 2290 HP:0002353 EEG abnormality ORPHANET:3095 FOXG1 2290 HP:0001063 Acrocyanosis ORPHANET:3095 FOXG1 2290 HP:0004374 Hemiplegia/hemiparesis ORPHANET:3095 FOXG1 2290 HP:0002167 Neurological speech impairment ORPHANET:3095 FOXG1 2290 HP:0000717 Autism ORPHANET:3095 FOXG1 2290 HP:0002360 Sleep disturbance ORPHANET:3095 FOXG1 2290 HP:0001288 Gait disturbance ORPHANET:3095 FOXG1 2290 HP:0011675 Arrhythmia ORPHANET:3095 FOXG1 2290 HP:0000478 Abnormality of the eye ORPHANET:3095 FOXG1 2290 HP:0002793 Abnormal pattern of respiration ORPHANET:3095 FOXG1 2290 HP:0001513 Obesity ORPHANET:3095 FOXG1 2290 HP:0004349 Reduced bone mineral density ORPHANET:3095 FOXG1 2290 HP:0002213 Fine hair OMIM:612199 CTC1 80169 HP:0000963 Thin skin OMIM:612199 CTC1 80169 HP:0000007 Autosomal recessive inheritance OMIM:612199 CTC1 80169 HP:0002062 Morphological abnormality of the pyramidal tract OMIM:612199 CTC1 80169 HP:0100864 Short femoral neck OMIM:612199 CTC1 80169 HP:0002745 Oral leukoplakia OMIM:612199 CTC1 80169 HP:0002415 Leukodystrophy OMIM:612199 CTC1 80169 HP:0004979 Metaphyseal sclerosis OMIM:612199 CTC1 80169 HP:0001260 Dysarthria OMIM:612199 CTC1 80169 HP:0008070 Sparse hair OMIM:612199 CTC1 80169 HP:0002071 Abnormality of extrapyramidal motor function OMIM:612199 CTC1 80169 HP:0002857 Genu valgum OMIM:612199 CTC1 80169 HP:0000938 Osteopenia OMIM:612199 CTC1 80169 HP:0007898 Exudative retinopathy OMIM:612199 CTC1 80169 HP:0007256 Abnormal pyramidal signs OMIM:612199 CTC1 80169 HP:0001257 Spasticity OMIM:612199 CTC1 80169 HP:0000618 Blindness OMIM:612199 CTC1 80169 HP:0001268 Mental deterioration OMIM:612199 CTC1 80169 HP:0005528 Bone marrow hypocellularity OMIM:612199 CTC1 80169 HP:0002352 Leukoencephalopathy OMIM:612199 CTC1 80169 HP:0002584 Intestinal bleeding OMIM:612199 CTC1 80169 HP:0003812 Phenotypic variability OMIM:612199 CTC1 80169 HP:0001251 Ataxia OMIM:612199 CTC1 80169 HP:0008897 Postnatal growth retardation OMIM:612199 CTC1 80169 HP:0001511 Intrauterine growth retardation OMIM:612199 CTC1 80169 HP:0000939 Osteoporosis OMIM:612199 CTC1 80169 HP:0001332 Dystonia OMIM:612199 CTC1 80169 HP:0002756 Pathologic fracture OMIM:612199 CTC1 80169 HP:0001903 Anemia OMIM:612199 CTC1 80169 HP:0004322 Short stature OMIM:612199 CTC1 80169 HP:0001337 Tremor OMIM:612199 CTC1 80169 HP:0003676 Progressive disorder OMIM:612199 CTC1 80169 HP:0002301 Hemiplegia OMIM:612199 CTC1 80169 HP:0001873 Thrombocytopenia OMIM:612199 CTC1 80169 HP:0007763 Retinal telangiectasia OMIM:612199 CTC1 80169 HP:0003593 Infantile onset OMIM:612199 CTC1 80169 HP:0002164 Nail dysplasia OMIM:612199 CTC1 80169 HP:0001250 Seizures OMIM:612199 CTC1 80169 HP:0000648 Optic atrophy OMIM:612199 CTC1 80169 HP:0002514 Cerebral calcification OMIM:612199 CTC1 80169 HP:0002650 Scoliosis OMIM:613679 F2 2147 HP:0000978 Bruising susceptibility OMIM:613679 F2 2147 HP:0000007 Autosomal recessive inheritance OMIM:613679 F2 2147 HP:0000421 Epistaxis OMIM:613679 F2 2147 HP:0012201 Reduced prothrombin activity OMIM:613679 F2 2147 HP:0003010 Prolonged bleeding time OMIM:613679 F2 2147 HP:0003577 Congenital onset OMIM:613679 F2 2147 HP:0003828 Variable expressivity OMIM:613679 F2 2147 HP:0002239 Gastrointestinal hemorrhage OMIM:613679 F2 2147 HP:0000132 Menorrhagia OMIM:613679 F2 2147 HP:0008151 Prolonged prothrombin time OMIM:613679 F2 2147 HP:0000225 Gingival bleeding OMIM:613679 F2 2147 HP:0003645 Prolonged partial thromboplastin time OMIM:613679 F2 2147 HP:0005261 Joint hemorrhage OMIM:613122 NEXN 91624 HP:0001644 Dilated cardiomyopathy OMIM:253700 SGCG 6445 HP:0001371 Flexion contracture OMIM:253700 SGCG 6445 HP:0001667 Right ventricular hypertrophy OMIM:253700 SGCG 6445 HP:0003678 Rapidly progressive OMIM:253700 SGCG 6445 HP:0003713 Muscle fiber necrosis OMIM:253700 SGCG 6445 HP:0002090 Pneumonia OMIM:253700 SGCG 6445 HP:0003236 Elevated serum creatine phosphokinase OMIM:253700 SGCG 6445 HP:0005133 Right ventricular dilatation OMIM:253700 SGCG 6445 HP:0003391 Gowers sign OMIM:253700 SGCG 6445 HP:0000007 Autosomal recessive inheritance OMIM:253700 SGCG 6445 HP:0003307 Hyperlordosis OMIM:253700 SGCG 6445 HP:0003202 Skeletal muscle atrophy OMIM:253700 SGCG 6445 HP:0003560 Muscular dystrophy OMIM:253700 SGCG 6445 HP:0003707 Calf muscle pseudohypertrophy OMIM:253700 SGCG 6445 HP:0002091 Restrictive lung disease OMIM:253700 SGCG 6445 HP:0002650 Scoliosis OMIM:210710 RNU4ATAC 100151683 HP:0008551 Microtia OMIM:210710 RNU4ATAC 100151683 HP:0003865 Bowed humerus OMIM:210710 RNU4ATAC 100151683 HP:0004616 Cleft vertebral arch OMIM:210710 RNU4ATAC 100151683 HP:0000470 Short neck OMIM:210710 RNU4ATAC 100151683 HP:0002335 Agenesis of cerebellar vermis OMIM:210710 RNU4ATAC 100151683 HP:0001250 Seizures OMIM:210710 RNU4ATAC 100151683 HP:0000954 Single transverse palmar crease OMIM:210710 RNU4ATAC 100151683 HP:0000369 Low-set ears OMIM:210710 RNU4ATAC 100151683 HP:0000878 11 pairs of ribs OMIM:210710 RNU4ATAC 100151683 HP:0000962 Hyperkeratosis OMIM:210710 RNU4ATAC 100151683 HP:0000028 Cryptorchidism OMIM:210710 RNU4ATAC 100151683 HP:0001302 Pachygyria OMIM:210710 RNU4ATAC 100151683 HP:0000958 Dry skin OMIM:210710 RNU4ATAC 100151683 HP:0000237 Small anterior fontanelle OMIM:210710 RNU4ATAC 100151683 HP:0002209 Sparse scalp hair OMIM:210710 RNU4ATAC 100151683 HP:0001249 Intellectual disability OMIM:210710 RNU4ATAC 100151683 HP:0000653 Sparse eyelashes OMIM:210710 RNU4ATAC 100151683 HP:0002827 Hip dislocation OMIM:210710 RNU4ATAC 100151683 HP:0006400 Absent knee epiphyses OMIM:210710 RNU4ATAC 100151683 HP:0005792 Short humerus OMIM:210710 RNU4ATAC 100151683 HP:0000107 Renal cyst OMIM:210710 RNU4ATAC 100151683 HP:0010049 Short metacarpal OMIM:210710 RNU4ATAC 100151683 HP:0002750 Delayed skeletal maturation OMIM:210710 RNU4ATAC 100151683 HP:0001511 Intrauterine growth retardation OMIM:210710 RNU4ATAC 100151683 HP:0001680 Coarctation of aorta OMIM:210710 RNU4ATAC 100151683 HP:0000448 Prominent nose OMIM:210710 RNU4ATAC 100151683 HP:0003097 Short femur OMIM:210710 RNU4ATAC 100151683 HP:0000535 Sparse eyebrow OMIM:210710 RNU4ATAC 100151683 HP:0006579 Prolonged neonatal jaundice OMIM:210710 RNU4ATAC 100151683 HP:0000089 Renal hypoplasia OMIM:210710 RNU4ATAC 100151683 HP:0003044 Shoulder flexion contracture OMIM:210710 RNU4ATAC 100151683 HP:0001156 Brachydactyly syndrome OMIM:210710 RNU4ATAC 100151683 HP:0001176 Large hands OMIM:210710 RNU4ATAC 100151683 HP:0003826 Stillbirth OMIM:210710 RNU4ATAC 100151683 HP:0000890 Long clavicles OMIM:210710 RNU4ATAC 100151683 HP:0000007 Autosomal recessive inheritance OMIM:210710 RNU4ATAC 100151683 HP:0003051 Enlarged metaphyses OMIM:210710 RNU4ATAC 100151683 HP:0006380 Knee flexion contracture OMIM:210710 RNU4ATAC 100151683 HP:0000520 Proptosis OMIM:210710 RNU4ATAC 100151683 HP:0003042 Elbow dislocation OMIM:210710 RNU4ATAC 100151683 HP:0002980 Femoral bowing OMIM:210710 RNU4ATAC 100151683 HP:0001508 Failure to thrive OMIM:210710 RNU4ATAC 100151683 HP:0001631 Defect in the atrial septum OMIM:210710 RNU4ATAC 100151683 HP:0000340 Sloping forehead OMIM:210710 RNU4ATAC 100151683 HP:0001636 Tetralogy of Fallot OMIM:210710 RNU4ATAC 100151683 HP:0001833 Long foot OMIM:210710 RNU4ATAC 100151683 HP:0002983 Micromelia OMIM:210710 RNU4ATAC 100151683 HP:0001562 Oligohydramnios OMIM:210710 RNU4ATAC 100151683 HP:0000946 Hypoplastic ilia OMIM:210710 RNU4ATAC 100151683 HP:0000252 Microcephaly OMIM:210710 RNU4ATAC 100151683 HP:0000377 Abnormality of the pinna OMIM:210710 RNU4ATAC 100151683 HP:0003273 Hip contracture OMIM:210710 RNU4ATAC 100151683 HP:0000347 Micrognathia OMIM:210710 RNU4ATAC 100151683 HP:0000926 Platyspondyly OMIM:210710 RNU4ATAC 100151683 HP:0000054 Micropenis OMIM:210710 RNU4ATAC 100151683 HP:0002282 Heterotopia OMIM:210710 RNU4ATAC 100151683 HP:0000269 Prominent occiput OMIM:210710 RNU4ATAC 100151683 HP:0002987 Elbow flexion contracture OMIM:210710 RNU4ATAC 100151683 HP:0003498 Disproportionate short stature OMIM:210710 RNU4ATAC 100151683 HP:0007333 Hypoplasia of the frontal lobes OMIM:210710 RNU4ATAC 100151683 HP:0001274 Agenesis of corpus callosum OMIM:613150 POMT2 29954 HP:0001425 Heterogeneous OMIM:613150 POMT2 29954 HP:0002187 Intellectual disability, profound OMIM:613150 POMT2 29954 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:613150 POMT2 29954 HP:0000007 Autosomal recessive inheritance OMIM:613150 POMT2 29954 HP:0000545 Myopia OMIM:613150 POMT2 29954 HP:0003812 Phenotypic variability OMIM:613150 POMT2 29954 HP:0000175 Cleft palate OMIM:613150 POMT2 29954 HP:0000659 Peters anomaly OMIM:613150 POMT2 29954 HP:0001321 Cerebellar hypoplasia OMIM:613150 POMT2 29954 HP:0002803 Congenital contracture OMIM:613150 POMT2 29954 HP:0000204 Cleft upper lip OMIM:613150 POMT2 29954 HP:0000540 Hypermetropia OMIM:613150 POMT2 29954 HP:0002126 Polymicrogyria OMIM:613150 POMT2 29954 HP:0000557 Buphthalmos OMIM:613150 POMT2 29954 HP:0000158 Macroglossia OMIM:613150 POMT2 29954 HP:0002650 Scoliosis OMIM:613150 POMT2 29954 HP:0003236 Elevated serum creatine phosphokinase OMIM:613150 POMT2 29954 HP:0009917 Persistent pupillary membrane OMIM:613150 POMT2 29954 HP:0001250 Seizures OMIM:613150 POMT2 29954 HP:0010864 Intellectual disability, severe OMIM:613150 POMT2 29954 HP:0006829 Severe muscular hypotonia OMIM:613150 POMT2 29954 HP:0003560 Muscular dystrophy OMIM:613150 POMT2 29954 HP:0001302 Pachygyria OMIM:613150 POMT2 29954 HP:0000568 Microphthalmos OMIM:613150 POMT2 29954 HP:0002365 Hypoplasia of the brainstem OMIM:613150 POMT2 29954 HP:0002119 Ventriculomegaly OMIM:613150 POMT2 29954 HP:0003306 Spinal rigidity OMIM:613150 POMT2 29954 HP:0000518 Cataract OMIM:613150 POMT2 29954 HP:0002350 Cerebellar cyst OMIM:613150 POMT2 29954 HP:0000252 Microcephaly OMIM:613150 POMT2 29954 HP:0000238 Hydrocephalus OMIM:613150 POMT2 29954 HP:0007260 Type II lissencephaly OMIM:613150 POMT2 29954 HP:0007033 Cerebellar dysplasia OMIM:613150 POMT2 29954 HP:0002084 Encephalocele ORPHANET:251510 MAP3K1 4214 HP:0100615 Ovarian neoplasm ORPHANET:251510 MAP3K1 4214 HP:0010458 Female pseudohermaphroditism ORPHANET:251510 MAP3K1 4214 HP:0008207 Primary adrenal insufficiency ORPHANET:251510 MAP3K1 4214 HP:0100627 Displacement of the external urethral meatus ORPHANET:251510 MAP3K1 4214 HP:0008736 Hypoplasia of penis ORPHANET:251510 MAP3K1 4214 HP:0010788 Testicular neoplasm ORPHANET:251510 MAP3K1 4214 HP:0000062 Ambiguous genitalia ORPHANET:251510 MAP3K1 4214 HP:0000133 Gonadal dysgenesis ORPHANET:251510 SRY 6736 HP:0100615 Ovarian neoplasm ORPHANET:251510 SRY 6736 HP:0010458 Female pseudohermaphroditism ORPHANET:251510 SRY 6736 HP:0008207 Primary adrenal insufficiency ORPHANET:251510 SRY 6736 HP:0100627 Displacement of the external urethral meatus ORPHANET:251510 SRY 6736 HP:0008736 Hypoplasia of penis ORPHANET:251510 SRY 6736 HP:0010788 Testicular neoplasm ORPHANET:251510 SRY 6736 HP:0000062 Ambiguous genitalia ORPHANET:251510 SRY 6736 HP:0000133 Gonadal dysgenesis ORPHANET:251510 VAMP7 6845 HP:0100615 Ovarian neoplasm ORPHANET:251510 VAMP7 6845 HP:0010458 Female pseudohermaphroditism ORPHANET:251510 VAMP7 6845 HP:0008207 Primary adrenal insufficiency ORPHANET:251510 VAMP7 6845 HP:0100627 Displacement of the external urethral meatus ORPHANET:251510 VAMP7 6845 HP:0008736 Hypoplasia of penis ORPHANET:251510 VAMP7 6845 HP:0010788 Testicular neoplasm ORPHANET:251510 VAMP7 6845 HP:0000062 Ambiguous genitalia ORPHANET:251510 VAMP7 6845 HP:0000133 Gonadal dysgenesis ORPHANET:251510 GATA4 2626 HP:0100615 Ovarian neoplasm ORPHANET:251510 GATA4 2626 HP:0010458 Female pseudohermaphroditism ORPHANET:251510 GATA4 2626 HP:0008207 Primary adrenal insufficiency ORPHANET:251510 GATA4 2626 HP:0100627 Displacement of the external urethral meatus ORPHANET:251510 GATA4 2626 HP:0008736 Hypoplasia of penis ORPHANET:251510 GATA4 2626 HP:0010788 Testicular neoplasm ORPHANET:251510 GATA4 2626 HP:0000062 Ambiguous genitalia ORPHANET:251510 GATA4 2626 HP:0000133 Gonadal dysgenesis ORPHANET:251510 ZFPM2 23414 HP:0100615 Ovarian neoplasm ORPHANET:251510 ZFPM2 23414 HP:0010458 Female pseudohermaphroditism ORPHANET:251510 ZFPM2 23414 HP:0008207 Primary adrenal insufficiency ORPHANET:251510 ZFPM2 23414 HP:0100627 Displacement of the external urethral meatus ORPHANET:251510 ZFPM2 23414 HP:0008736 Hypoplasia of penis ORPHANET:251510 ZFPM2 23414 HP:0010788 Testicular neoplasm ORPHANET:251510 ZFPM2 23414 HP:0000062 Ambiguous genitalia ORPHANET:251510 ZFPM2 23414 HP:0000133 Gonadal dysgenesis ORPHANET:251510 NR0B1 190 HP:0100615 Ovarian neoplasm ORPHANET:251510 NR0B1 190 HP:0010458 Female pseudohermaphroditism ORPHANET:251510 NR0B1 190 HP:0008207 Primary adrenal insufficiency ORPHANET:251510 NR0B1 190 HP:0100627 Displacement of the external urethral meatus ORPHANET:251510 NR0B1 190 HP:0008736 Hypoplasia of penis ORPHANET:251510 NR0B1 190 HP:0010788 Testicular neoplasm ORPHANET:251510 NR0B1 190 HP:0000062 Ambiguous genitalia ORPHANET:251510 NR0B1 190 HP:0000133 Gonadal dysgenesis ORPHANET:251510 WWOX 51741 HP:0100615 Ovarian neoplasm ORPHANET:251510 WWOX 51741 HP:0010458 Female pseudohermaphroditism ORPHANET:251510 WWOX 51741 HP:0008207 Primary adrenal insufficiency ORPHANET:251510 WWOX 51741 HP:0100627 Displacement of the external urethral meatus ORPHANET:251510 WWOX 51741 HP:0008736 Hypoplasia of penis ORPHANET:251510 WWOX 51741 HP:0010788 Testicular neoplasm ORPHANET:251510 WWOX 51741 HP:0000062 Ambiguous genitalia ORPHANET:251510 WWOX 51741 HP:0000133 Gonadal dysgenesis ORPHANET:251510 NR5A1 2516 HP:0100615 Ovarian neoplasm ORPHANET:251510 NR5A1 2516 HP:0010458 Female pseudohermaphroditism ORPHANET:251510 NR5A1 2516 HP:0008207 Primary adrenal insufficiency ORPHANET:251510 NR5A1 2516 HP:0100627 Displacement of the external urethral meatus ORPHANET:251510 NR5A1 2516 HP:0008736 Hypoplasia of penis ORPHANET:251510 NR5A1 2516 HP:0010788 Testicular neoplasm ORPHANET:251510 NR5A1 2516 HP:0000062 Ambiguous genitalia ORPHANET:251510 NR5A1 2516 HP:0000133 Gonadal dysgenesis ORPHANET:251510 WT1 7490 HP:0100615 Ovarian neoplasm ORPHANET:251510 WT1 7490 HP:0010458 Female pseudohermaphroditism ORPHANET:251510 WT1 7490 HP:0008207 Primary adrenal insufficiency ORPHANET:251510 WT1 7490 HP:0100627 Displacement of the external urethral meatus ORPHANET:251510 WT1 7490 HP:0008736 Hypoplasia of penis ORPHANET:251510 WT1 7490 HP:0010788 Testicular neoplasm ORPHANET:251510 WT1 7490 HP:0000062 Ambiguous genitalia ORPHANET:251510 WT1 7490 HP:0000133 Gonadal dysgenesis OMIM:615297 EOGT 285203 HP:0000965 Cutis marmorata OMIM:615297 EOGT 285203 HP:0001643 Patent ductus arteriosus OMIM:615297 EOGT 285203 HP:0100797 Toenail dysplasia OMIM:615297 EOGT 285203 HP:0003812 Phenotypic variability OMIM:615297 EOGT 285203 HP:0001800 Hypoplastic toenails OMIM:615297 EOGT 285203 HP:0001631 Defect in the atrial septum OMIM:615297 EOGT 285203 HP:0000007 Autosomal recessive inheritance OMIM:615297 EOGT 285203 HP:0001537 Umbilical hernia OMIM:615297 EOGT 285203 HP:0001629 Ventricular septal defect OMIM:615297 EOGT 285203 HP:0001831 Short toe ORPHANET:97229 SLC52A3 113278 HP:0002120 Cerebral cortical atrophy ORPHANET:97229 SLC52A3 113278 HP:0000648 Optic atrophy ORPHANET:97229 SLC52A3 113278 HP:0001252 Muscular hypotonia ORPHANET:97229 SLC52A3 113278 HP:0000771 Gynecomastia ORPHANET:97229 SLC52A3 113278 HP:0001315 Reduced tendon reflexes ORPHANET:97229 SLC52A3 113278 HP:0008872 Feeding difficulties in infancy ORPHANET:97229 SLC52A3 113278 HP:0003202 Skeletal muscle atrophy ORPHANET:97229 SLC52A3 113278 HP:0002270 Abnormality of the autonomic nervous system ORPHANET:97229 SLC52A3 113278 HP:0000505 Visual impairment ORPHANET:97229 SLC52A3 113278 HP:0002104 Apnea ORPHANET:97229 SLC52A3 113278 HP:0006824 Cranial nerve paralysis ORPHANET:97229 SLC52A3 113278 HP:0001324 Muscle weakness ORPHANET:97229 SLC52A3 113278 HP:0001337 Tremor ORPHANET:97229 SLC52A3 113278 HP:0000822 Hypertension ORPHANET:97229 SLC52A3 113278 HP:0000407 Sensorineural hearing impairment ORPHANET:97229 SLC52A3 113278 HP:0000078 Abnormality of the genital system ORPHANET:97229 SLC52A3 113278 HP:0007703 Abnormal retinal pigmentation ORPHANET:97229 SLC52A3 113278 HP:0004305 Involuntary movements ORPHANET:97229 SLC52A3 113278 HP:0000551 Abnormality of color vision ORPHANET:97229 SLC52A3 113278 HP:0002167 Neurological speech impairment ORPHANET:97229 SLC52A3 113278 HP:0000873 Diabetes insipidus ORPHANET:97229 SLC52A3 113278 HP:0002311 Incoordination ORPHANET:97229 SLC52A3 113278 HP:0004325 Decreased body weight ORPHANET:97229 SLC52A3 113278 HP:0001250 Seizures ORPHANET:97229 SLC52A3 113278 HP:0100543 Cognitive impairment ORPHANET:97229 SLC52A3 113278 HP:0001103 Abnormality of the macula ORPHANET:97229 SLC52A3 113278 HP:0000738 Hallucinations ORPHANET:97229 SLC52A3 113278 HP:0002093 Respiratory insufficiency ORPHANET:97229 SLC52A2 79581 HP:0002120 Cerebral cortical atrophy ORPHANET:97229 SLC52A2 79581 HP:0000648 Optic atrophy ORPHANET:97229 SLC52A2 79581 HP:0001252 Muscular hypotonia ORPHANET:97229 SLC52A2 79581 HP:0000771 Gynecomastia ORPHANET:97229 SLC52A2 79581 HP:0001315 Reduced tendon reflexes ORPHANET:97229 SLC52A2 79581 HP:0008872 Feeding difficulties in infancy ORPHANET:97229 SLC52A2 79581 HP:0003202 Skeletal muscle atrophy ORPHANET:97229 SLC52A2 79581 HP:0002270 Abnormality of the autonomic nervous system ORPHANET:97229 SLC52A2 79581 HP:0000505 Visual impairment ORPHANET:97229 SLC52A2 79581 HP:0002104 Apnea ORPHANET:97229 SLC52A2 79581 HP:0006824 Cranial nerve paralysis ORPHANET:97229 SLC52A2 79581 HP:0001324 Muscle weakness ORPHANET:97229 SLC52A2 79581 HP:0001337 Tremor ORPHANET:97229 SLC52A2 79581 HP:0000822 Hypertension ORPHANET:97229 SLC52A2 79581 HP:0000407 Sensorineural hearing impairment ORPHANET:97229 SLC52A2 79581 HP:0000078 Abnormality of the genital system ORPHANET:97229 SLC52A2 79581 HP:0007703 Abnormal retinal pigmentation ORPHANET:97229 SLC52A2 79581 HP:0004305 Involuntary movements ORPHANET:97229 SLC52A2 79581 HP:0000551 Abnormality of color vision ORPHANET:97229 SLC52A2 79581 HP:0002167 Neurological speech impairment ORPHANET:97229 SLC52A2 79581 HP:0000873 Diabetes insipidus ORPHANET:97229 SLC52A2 79581 HP:0002311 Incoordination ORPHANET:97229 SLC52A2 79581 HP:0004325 Decreased body weight ORPHANET:97229 SLC52A2 79581 HP:0001250 Seizures ORPHANET:97229 SLC52A2 79581 HP:0100543 Cognitive impairment ORPHANET:97229 SLC52A2 79581 HP:0001103 Abnormality of the macula ORPHANET:97229 SLC52A2 79581 HP:0000738 Hallucinations ORPHANET:97229 SLC52A2 79581 HP:0002093 Respiratory insufficiency ORPHANET:79394 ABCA12 26154 HP:0200020 Corneal erosion ORPHANET:79394 ABCA12 26154 HP:0000989 Pruritus ORPHANET:79394 ABCA12 26154 HP:0001597 Abnormality of the nail ORPHANET:79394 ABCA12 26154 HP:0008064 Ichthyosis ORPHANET:79394 ABCA12 26154 HP:0004322 Short stature ORPHANET:79394 ABCA12 26154 HP:0000982 Palmoplantar keratoderma ORPHANET:79394 ABCA12 26154 HP:0000492 Abnormality of the eyelid ORPHANET:79394 ABCA12 26154 HP:0001596 Alopecia ORPHANET:79394 ABCA12 26154 HP:0000966 Hypohidrosis ORPHANET:79394 ABCA12 26154 HP:0000365 Hearing impairment ORPHANET:79394 ABCA12 26154 HP:0100533 Inflammatory abnormality of the eye ORPHANET:79394 TGM1 7051 HP:0200020 Corneal erosion ORPHANET:79394 TGM1 7051 HP:0000989 Pruritus ORPHANET:79394 TGM1 7051 HP:0001597 Abnormality of the nail ORPHANET:79394 TGM1 7051 HP:0008064 Ichthyosis ORPHANET:79394 TGM1 7051 HP:0004322 Short stature ORPHANET:79394 TGM1 7051 HP:0000982 Palmoplantar keratoderma ORPHANET:79394 TGM1 7051 HP:0000492 Abnormality of the eyelid ORPHANET:79394 TGM1 7051 HP:0001596 Alopecia ORPHANET:79394 TGM1 7051 HP:0000966 Hypohidrosis ORPHANET:79394 TGM1 7051 HP:0000365 Hearing impairment ORPHANET:79394 TGM1 7051 HP:0100533 Inflammatory abnormality of the eye ORPHANET:79394 CERS3 204219 HP:0200020 Corneal erosion ORPHANET:79394 CERS3 204219 HP:0000989 Pruritus ORPHANET:79394 CERS3 204219 HP:0001597 Abnormality of the nail ORPHANET:79394 CERS3 204219 HP:0008064 Ichthyosis ORPHANET:79394 CERS3 204219 HP:0004322 Short stature ORPHANET:79394 CERS3 204219 HP:0000982 Palmoplantar keratoderma ORPHANET:79394 CERS3 204219 HP:0000492 Abnormality of the eyelid ORPHANET:79394 CERS3 204219 HP:0001596 Alopecia ORPHANET:79394 CERS3 204219 HP:0000966 Hypohidrosis ORPHANET:79394 CERS3 204219 HP:0000365 Hearing impairment ORPHANET:79394 CERS3 204219 HP:0100533 Inflammatory abnormality of the eye ORPHANET:79394 PNPLA1 285848 HP:0200020 Corneal erosion ORPHANET:79394 PNPLA1 285848 HP:0000989 Pruritus ORPHANET:79394 PNPLA1 285848 HP:0001597 Abnormality of the nail ORPHANET:79394 PNPLA1 285848 HP:0008064 Ichthyosis ORPHANET:79394 PNPLA1 285848 HP:0004322 Short stature ORPHANET:79394 PNPLA1 285848 HP:0000982 Palmoplantar keratoderma ORPHANET:79394 PNPLA1 285848 HP:0000492 Abnormality of the eyelid ORPHANET:79394 PNPLA1 285848 HP:0001596 Alopecia ORPHANET:79394 PNPLA1 285848 HP:0000966 Hypohidrosis ORPHANET:79394 PNPLA1 285848 HP:0000365 Hearing impairment ORPHANET:79394 PNPLA1 285848 HP:0100533 Inflammatory abnormality of the eye ORPHANET:79394 NIPAL4 348938 HP:0200020 Corneal erosion ORPHANET:79394 NIPAL4 348938 HP:0000989 Pruritus ORPHANET:79394 NIPAL4 348938 HP:0001597 Abnormality of the nail ORPHANET:79394 NIPAL4 348938 HP:0008064 Ichthyosis ORPHANET:79394 NIPAL4 348938 HP:0004322 Short stature ORPHANET:79394 NIPAL4 348938 HP:0000982 Palmoplantar keratoderma ORPHANET:79394 NIPAL4 348938 HP:0000492 Abnormality of the eyelid ORPHANET:79394 NIPAL4 348938 HP:0001596 Alopecia ORPHANET:79394 NIPAL4 348938 HP:0000966 Hypohidrosis ORPHANET:79394 NIPAL4 348938 HP:0000365 Hearing impairment ORPHANET:79394 NIPAL4 348938 HP:0100533 Inflammatory abnormality of the eye ORPHANET:79394 ALOXE3 59344 HP:0200020 Corneal erosion ORPHANET:79394 ALOXE3 59344 HP:0000989 Pruritus ORPHANET:79394 ALOXE3 59344 HP:0001597 Abnormality of the nail ORPHANET:79394 ALOXE3 59344 HP:0008064 Ichthyosis ORPHANET:79394 ALOXE3 59344 HP:0004322 Short stature ORPHANET:79394 ALOXE3 59344 HP:0000982 Palmoplantar keratoderma ORPHANET:79394 ALOXE3 59344 HP:0000492 Abnormality of the eyelid ORPHANET:79394 ALOXE3 59344 HP:0001596 Alopecia ORPHANET:79394 ALOXE3 59344 HP:0000966 Hypohidrosis ORPHANET:79394 ALOXE3 59344 HP:0000365 Hearing impairment ORPHANET:79394 ALOXE3 59344 HP:0100533 Inflammatory abnormality of the eye ORPHANET:79394 ALOX12B 242 HP:0200020 Corneal erosion ORPHANET:79394 ALOX12B 242 HP:0000989 Pruritus ORPHANET:79394 ALOX12B 242 HP:0001597 Abnormality of the nail ORPHANET:79394 ALOX12B 242 HP:0008064 Ichthyosis ORPHANET:79394 ALOX12B 242 HP:0004322 Short stature ORPHANET:79394 ALOX12B 242 HP:0000982 Palmoplantar keratoderma ORPHANET:79394 ALOX12B 242 HP:0000492 Abnormality of the eyelid ORPHANET:79394 ALOX12B 242 HP:0001596 Alopecia ORPHANET:79394 ALOX12B 242 HP:0000966 Hypohidrosis ORPHANET:79394 ALOX12B 242 HP:0000365 Hearing impairment ORPHANET:79394 ALOX12B 242 HP:0100533 Inflammatory abnormality of the eye OMIM:611105 DARS2 55157 HP:0001257 Spasticity OMIM:611105 DARS2 55157 HP:0003677 Slow progression OMIM:611105 DARS2 55157 HP:0001270 Motor delay OMIM:611105 DARS2 55157 HP:0003487 Babinski sign OMIM:611105 DARS2 55157 HP:0002352 Leukoencephalopathy OMIM:611105 DARS2 55157 HP:0001324 Muscle weakness OMIM:611105 DARS2 55157 HP:0001347 Hyperreflexia OMIM:611105 DARS2 55157 HP:0003828 Variable expressivity OMIM:611105 DARS2 55157 HP:0001260 Dysarthria OMIM:611105 DARS2 55157 HP:0001337 Tremor OMIM:611105 DARS2 55157 HP:0100543 Cognitive impairment OMIM:611105 DARS2 55157 HP:0003477 Peripheral axonal neuropathy OMIM:611105 DARS2 55157 HP:0000639 Nystagmus OMIM:611105 DARS2 55157 HP:0001265 Hyporeflexia OMIM:611105 DARS2 55157 HP:0003202 Skeletal muscle atrophy OMIM:611105 DARS2 55157 HP:0001251 Ataxia OMIM:611105 DARS2 55157 HP:0000007 Autosomal recessive inheritance OMIM:194380 PIEZO1 9780 HP:0002240 Hepatomegaly OMIM:194380 PIEZO1 9780 HP:0000952 Jaundice OMIM:194380 PIEZO1 9780 HP:0008269 Increased red cell hemolysis by shear stress OMIM:194380 PIEZO1 9780 HP:0005535 Exercise-induced hemolysis OMIM:194380 PIEZO1 9780 HP:0003281 Increased serum ferritin OMIM:194380 PIEZO1 9780 HP:0000006 Autosomal dominant inheritance OMIM:194380 PIEZO1 9780 HP:0001923 Reticulocytosis OMIM:194380 PIEZO1 9780 HP:0012115 Hepatitis OMIM:194380 PIEZO1 9780 HP:0003641 Hemoglobinuria OMIM:194380 PIEZO1 9780 HP:0001744 Splenomegaly OMIM:194380 PIEZO1 9780 HP:0001081 Cholelithiasis OMIM:194380 PIEZO1 9780 HP:0000980 Pallor OMIM:608106 UNG 7374 HP:0000031 Epididymitis OMIM:608106 UNG 7374 HP:0002959 Impaired Ig class switch recombination OMIM:608106 UNG 7374 HP:0004315 IgG deficiency OMIM:608106 UNG 7374 HP:0000007 Autosomal recessive inheritance OMIM:608106 UNG 7374 HP:0002720 IgA deficiency OMIM:608106 UNG 7374 HP:0200117 Recurrent upper and lower respiratory tract infections OMIM:608106 UNG 7374 HP:0002721 Immunodeficiency OMIM:608106 UNG 7374 HP:0002718 Recurrent bacterial infections OMIM:608106 UNG 7374 HP:0003496 Increased IgM level OMIM:608106 UNG 7374 HP:0002716 Lymphadenopathy OMIM:605909 PINK1 65018 HP:0000007 Autosomal recessive inheritance OMIM:605909 PINK1 65018 HP:0000726 Dementia OMIM:605909 PINK1 65018 HP:0001347 Hyperreflexia OMIM:605909 PINK1 65018 HP:0000716 Depression OMIM:605909 PINK1 65018 HP:0002322 Resting tremor OMIM:605909 PINK1 65018 HP:0001300 Parkinsonism OMIM:605909 PINK1 65018 HP:0002063 Rigidity OMIM:605909 PINK1 65018 HP:0002172 Postural instability OMIM:605909 PINK1 65018 HP:0003593 Infantile onset OMIM:605909 PINK1 65018 HP:0003677 Slow progression OMIM:605909 PINK1 65018 HP:0000012 Urinary urgency OMIM:605909 PINK1 65018 HP:0001332 Dystonia OMIM:605909 PINK1 65018 HP:0000739 Anxiety OMIM:605909 PINK1 65018 HP:0002067 Bradykinesia OMIM:300209 OFD1 8481 HP:0010864 Intellectual disability, severe OMIM:300209 OFD1 8481 HP:0000256 Macrocephaly OMIM:300209 OFD1 8481 HP:0001547 Abnormality of the rib cage OMIM:300209 OFD1 8481 HP:0006887 Intellectual disability, progressive OMIM:300209 OFD1 8481 HP:0000003 Multicystic kidney dysplasia OMIM:300209 OFD1 8481 HP:0001762 Talipes equinovarus OMIM:300209 OFD1 8481 HP:0010806 U-Shaped upper lip vermilion OMIM:300209 OFD1 8481 HP:0000369 Low-set ears OMIM:300209 OFD1 8481 HP:0009466 Radial deviation of finger OMIM:300209 OFD1 8481 HP:0006610 Wide intermamillary distance OMIM:300209 OFD1 8481 HP:0000219 Thin upper lip vermilion OMIM:300209 OFD1 8481 HP:0001374 Congenital hip dislocation OMIM:300209 OFD1 8481 HP:0000175 Cleft palate OMIM:300209 OFD1 8481 HP:0000054 Micropenis OMIM:300209 OFD1 8481 HP:0001169 Broad palm OMIM:300209 OFD1 8481 HP:0030084 Clinodactyly OMIM:300209 OFD1 8481 HP:0002788 Recurrent upper respiratory tract infections OMIM:300209 OFD1 8481 HP:0000316 Hypertelorism OMIM:300209 OFD1 8481 HP:0000954 Single transverse palmar crease OMIM:300209 OFD1 8481 HP:0001792 Small nail OMIM:300209 OFD1 8481 HP:0002002 Deep philtrum OMIM:300209 OFD1 8481 HP:0000268 Dolichocephaly OMIM:300209 OFD1 8481 HP:0009381 Short finger OMIM:300209 OFD1 8481 HP:0000286 Epicanthus OMIM:300209 OFD1 8481 HP:0000023 Inguinal hernia OMIM:300209 OFD1 8481 HP:0000445 Wide nose OMIM:300209 OFD1 8481 HP:0001252 Muscular hypotonia OMIM:300209 OFD1 8481 HP:0000474 Thickened nuchal skin fold OMIM:300209 OFD1 8481 HP:0000218 High palate OMIM:300209 OFD1 8481 HP:0006801 Hyperactive deep tendon reflexes OMIM:300209 OFD1 8481 HP:0000463 Anteverted nares OMIM:300209 OFD1 8481 HP:0000470 Short neck OMIM:300209 OFD1 8481 HP:0001182 Tapered finger OMIM:300209 OFD1 8481 HP:0003196 Short nose OMIM:300209 OFD1 8481 HP:0000358 Posteriorly rotated ears OMIM:300209 OFD1 8481 HP:0000154 Wide mouth OMIM:300209 OFD1 8481 HP:0001419 X-linked recessive inheritance OMIM:300209 OFD1 8481 HP:0002090 Pneumonia OMIM:300209 OFD1 8481 HP:0000996 Facial capillary hemangioma OMIM:300209 OFD1 8481 HP:0000280 Coarse facial features OMIM:146550 HR 55806 HP:0002231 Sparse body hair OMIM:146550 HR 55806 HP:0001596 Alopecia OMIM:146550 HR 55806 HP:0001006 Hypotrichosis OMIM:146550 HR 55806 HP:0000535 Sparse eyebrow OMIM:146550 HR 55806 HP:0000653 Sparse eyelashes OMIM:146550 HR 55806 HP:0003777 Pili torti OMIM:146550 HR 55806 HP:0000006 Autosomal dominant inheritance OMIM:613506 LRRC8A 56262 HP:0000006 Autosomal dominant inheritance OMIM:613506 LRRC8A 56262 HP:0004432 Agammaglobulinemia OMIM:613506 LRRC8A 56262 HP:0000316 Hypertelorism OMIM:613506 LRRC8A 56262 HP:0000218 High palate OMIM:613506 LRRC8A 56262 HP:0000286 Epicanthus OMIM:613506 LRRC8A 56262 HP:0000369 Low-set ears OMIM:249500 PRSS12 8492 HP:0006801 Hyperactive deep tendon reflexes OMIM:249500 PRSS12 8492 HP:0000486 Strabismus OMIM:249500 PRSS12 8492 HP:0000007 Autosomal recessive inheritance OMIM:249500 PRSS12 8492 HP:0003487 Babinski sign OMIM:249500 PRSS12 8492 HP:0001249 Intellectual disability OMIM:249500 PRSS12 8492 HP:0000639 Nystagmus OMIM:146700 FLG 2312 HP:0000976 Eczematoid dermatitis OMIM:146700 FLG 2312 HP:0002099 Asthma OMIM:146700 FLG 2312 HP:0008064 Ichthyosis OMIM:146700 FLG 2312 HP:0000006 Autosomal dominant inheritance OMIM:180104 RP9 6100 HP:0000662 Night blindness OMIM:180104 RP9 6100 HP:0040049 Macular edema OMIM:180104 RP9 6100 HP:0001133 Constricted visual fields OMIM:180104 RP9 6100 HP:0000510 Retinitis pigmentosa OMIM:180104 RP9 6100 HP:0007688 Absent rod-and cone-mediated responses on ERG OMIM:180104 RP9 6100 HP:0000006 Autosomal dominant inheritance OMIM:180104 RP9 6100 HP:0000518 Cataract OMIM:180104 RP9 6100 HP:0007737 Bony spicule pigmentary retinopathy OMIM:265380 FOXF1 2294 HP:0001631 Defect in the atrial septum OMIM:265380 FOXF1 2294 HP:0001734 Annular pancreas OMIM:265380 FOXF1 2294 HP:0001743 Abnormality of the spleen OMIM:265380 FOXF1 2294 HP:0002575 Tracheoesophageal fistula OMIM:265380 FOXF1 2294 HP:0001641 Abnormality of the pulmonary valve OMIM:265380 FOXF1 2294 HP:0002092 Pulmonary hypertension OMIM:265380 FOXF1 2294 HP:0100589 Urogenital fistula OMIM:265380 FOXF1 2294 HP:0010935 Abnormality of the upper urinary tract OMIM:265380 FOXF1 2294 HP:0002101 Abnormal lung lobation OMIM:265380 FOXF1 2294 HP:0001561 Polyhydramnios OMIM:265380 FOXF1 2294 HP:0001195 Single umbilical artery OMIM:265380 FOXF1 2294 HP:0002247 Duodenal atresia OMIM:265380 FOXF1 2294 HP:0001674 Complete atrioventricular canal defect OMIM:265380 FOXF1 2294 HP:0002245 Meckel diverticulum OMIM:265380 FOXF1 2294 HP:0001643 Patent ductus arteriosus OMIM:265380 FOXF1 2294 HP:0100867 Duodenal stenosis OMIM:265380 FOXF1 2294 HP:0000126 Hydronephrosis OMIM:265380 FOXF1 2294 HP:0011718 Abnormality of the pulmonary veins OMIM:265380 FOXF1 2294 HP:0004383 Hypoplastic left heart OMIM:265380 FOXF1 2294 HP:0000822 Hypertension OMIM:265380 FOXF1 2294 HP:0002566 Intestinal malrotation OMIM:265380 FOXF1 2294 HP:0001679 Abnormality of the aorta OMIM:265380 FOXF1 2294 HP:0000072 Hydroureter OMIM:265380 FOXF1 2294 HP:0005264 Abnormality of the gallbladder OMIM:265380 FOXF1 2294 HP:0002093 Respiratory insufficiency OMIM:265380 FOXF1 2294 HP:0001646 Abnormality of the aortic valve OMIM:265380 FOXF1 2294 HP:0003811 Neonatal death OMIM:265380 FOXF1 2294 HP:0001636 Tetralogy of Fallot OMIM:265380 FOXF1 2294 HP:0001694 Right-to-left shunt OMIM:265380 FOXF1 2294 HP:0003312 Abnormal form of the vertebral bodies OMIM:265380 FOXF1 2294 HP:0001629 Ventricular septal defect OMIM:265380 FOXF1 2294 HP:0010444 Pulmonary insufficiency OMIM:265380 FOXF1 2294 HP:0002251 Aganglionic megacolon OMIM:265380 FOXF1 2294 HP:0000007 Autosomal recessive inheritance OMIM:242100 ALOX12B 242 HP:0000982 Palmoplantar keratoderma OMIM:242100 ALOX12B 242 HP:0000966 Hypohidrosis OMIM:242100 ALOX12B 242 HP:0007479 Congenital nonbullous ichthyosiform erythroderma OMIM:242100 ALOX12B 242 HP:0003470 Paralysis OMIM:242100 ALOX12B 242 HP:0001816 Thin nail OMIM:242100 ALOX12B 242 HP:0000232 Everted lower lip vermilion OMIM:242100 ALOX12B 242 HP:0001510 Growth delay OMIM:242100 ALOX12B 242 HP:0001831 Short toe OMIM:242100 ALOX12B 242 HP:0001792 Small nail OMIM:242100 ALOX12B 242 HP:0000656 Ectropion OMIM:242100 ALOX12B 242 HP:0001595 Abnormality of the hair OMIM:242100 ALOX12B 242 HP:0001249 Intellectual disability OMIM:242100 ALOX12B 242 HP:0003241 External genital hypoplasia OMIM:242100 ALOX12B 242 HP:0007431 Congenital ichthyosiform erythroderma OMIM:242100 ALOX12B 242 HP:0000007 Autosomal recessive inheritance OMIM:242100 ALOX12B 242 HP:0009381 Short finger OMIM:603671 ZSWIM6 57688 HP:0002079 Hypoplasia of the corpus callosum OMIM:603671 ZSWIM6 57688 HP:0001249 Intellectual disability OMIM:603671 ZSWIM6 57688 HP:0011803 Bifid nose OMIM:603671 ZSWIM6 57688 HP:0000316 Hypertelorism OMIM:603671 ZSWIM6 57688 HP:0000204 Cleft upper lip OMIM:603671 ZSWIM6 57688 HP:0002690 Large sella turcica OMIM:603671 ZSWIM6 57688 HP:0006951 Retrocerebellar cyst OMIM:603671 ZSWIM6 57688 HP:0002435 Meningocele OMIM:603671 ZSWIM6 57688 HP:0000429 Abnormality of the nasal alae OMIM:603671 ZSWIM6 57688 HP:0040075 Hypopituitarism OMIM:603671 ZSWIM6 57688 HP:0010806 U-Shaped upper lip vermilion OMIM:603671 ZSWIM6 57688 HP:0000175 Cleft palate OMIM:603671 ZSWIM6 57688 HP:0001762 Talipes equinovarus OMIM:603671 ZSWIM6 57688 HP:0002190 Choroid plexus cyst OMIM:603671 ZSWIM6 57688 HP:0000248 Brachycephaly OMIM:603671 ZSWIM6 57688 HP:0004122 Midline defect of the nose OMIM:603671 ZSWIM6 57688 HP:0001250 Seizures OMIM:603671 ZSWIM6 57688 HP:0000028 Cryptorchidism OMIM:603671 ZSWIM6 57688 HP:0000455 Broad nasal tip OMIM:603671 ZSWIM6 57688 HP:0001159 Syndactyly OMIM:603671 ZSWIM6 57688 HP:0001805 Thick nail OMIM:603671 ZSWIM6 57688 HP:0100258 Preaxial polydactyly OMIM:603671 ZSWIM6 57688 HP:0000545 Myopia OMIM:603671 ZSWIM6 57688 HP:0002084 Encephalocele OMIM:603671 ZSWIM6 57688 HP:0000006 Autosomal dominant inheritance OMIM:603671 ZSWIM6 57688 HP:0000508 Ptosis OMIM:603671 ZSWIM6 57688 HP:0000506 Telecanthus OMIM:603671 ZSWIM6 57688 HP:0010559 Vertical clivus OMIM:603671 ZSWIM6 57688 HP:0001274 Agenesis of corpus callosum OMIM:603671 ZSWIM6 57688 HP:0000501 Glaucoma OMIM:603671 ZSWIM6 57688 HP:0002119 Ventriculomegaly OMIM:253601 DYSF 8291 HP:0003557 Increased variability in muscle fiber diameter OMIM:253601 DYSF 8291 HP:0000007 Autosomal recessive inheritance OMIM:253601 DYSF 8291 HP:0003236 Elevated serum creatine phosphokinase OMIM:253601 DYSF 8291 HP:0003677 Slow progression OMIM:253601 DYSF 8291 HP:0003555 Muscle fiber splitting OMIM:253601 DYSF 8291 HP:0003458 EMG: myopathic abnormalities OMIM:253601 DYSF 8291 HP:0003551 Difficulty climbing stairs OMIM:253601 DYSF 8291 HP:0009046 Difficulty running OMIM:253601 DYSF 8291 HP:0009025 Increased connective tissue OMIM:253601 DYSF 8291 HP:0003701 Proximal muscle weakness OMIM:253601 DYSF 8291 HP:0003560 Muscular dystrophy OMIM:615596 STT3A 3703 HP:0001249 Intellectual disability OMIM:615596 STT3A 3703 HP:0001272 Cerebellar atrophy OMIM:615596 STT3A 3703 HP:0001508 Failure to thrive OMIM:615596 STT3A 3703 HP:0000252 Microcephaly OMIM:615596 STT3A 3703 HP:0011968 Feeding difficulties OMIM:615596 STT3A 3703 HP:0001252 Muscular hypotonia OMIM:615596 STT3A 3703 HP:0001263 Global developmental delay OMIM:615596 STT3A 3703 HP:0003577 Congenital onset OMIM:615596 STT3A 3703 HP:0001250 Seizures OMIM:615596 STT3A 3703 HP:0000007 Autosomal recessive inheritance OMIM:241510 ALPL 249 HP:0001024 Skin dimple over apex of long bone angulation OMIM:241510 ALPL 249 HP:0002515 Waddling gait OMIM:241510 ALPL 249 HP:0003198 Myopathy OMIM:241510 ALPL 249 HP:0001250 Seizures OMIM:241510 ALPL 249 HP:0003491 Elevated urine pyrophosphate OMIM:241510 ALPL 249 HP:0006323 Premature loss of primary teeth OMIM:241510 ALPL 249 HP:0000268 Dolichocephaly OMIM:241510 ALPL 249 HP:0000007 Autosomal recessive inheritance OMIM:241510 ALPL 249 HP:0002979 Bowing of the legs OMIM:241510 ALPL 249 HP:0000520 Proptosis OMIM:241510 ALPL 249 HP:0000897 Rachitic rosary OMIM:241510 ALPL 249 HP:0011864 Elevated plasma pyrophosphate OMIM:241510 ALPL 249 HP:0001363 Craniosynostosis OMIM:241510 ALPL 249 HP:0002007 Frontal bossing OMIM:241510 ALPL 249 HP:0003239 Phosphoethanolaminuria OMIM:241510 ALPL 249 HP:0003282 Low alkaline phosphatase OMIM:241510 ALPL 249 HP:0000670 Carious teeth OMIM:241510 ALPL 249 HP:0004322 Short stature OMIM:610127 CTSD 1509 HP:0002093 Respiratory insufficiency OMIM:610127 CTSD 1509 HP:0000340 Sloping forehead OMIM:610127 CTSD 1509 HP:0002529 Neuronal loss in central nervous system OMIM:610127 CTSD 1509 HP:0003577 Congenital onset OMIM:610127 CTSD 1509 HP:0000252 Microcephaly OMIM:610127 CTSD 1509 HP:0005458 Premature closure of fontanelles OMIM:610127 CTSD 1509 HP:0002059 Cerebral atrophy OMIM:610127 CTSD 1509 HP:0006887 Intellectual disability, progressive OMIM:610127 CTSD 1509 HP:0000572 Visual loss OMIM:610127 CTSD 1509 HP:0001939 Abnormality of metabolism/homeostasis OMIM:610127 CTSD 1509 HP:0002063 Rigidity OMIM:610127 CTSD 1509 HP:0002878 Respiratory failure OMIM:610127 CTSD 1509 HP:0001250 Seizures OMIM:610127 CTSD 1509 HP:0000431 Wide nasal bridge OMIM:610127 CTSD 1509 HP:0002074 Increased neuronal autofluorescent lipopigment OMIM:610127 CTSD 1509 HP:0000007 Autosomal recessive inheritance OMIM:610127 CTSD 1509 HP:0000510 Retinitis pigmentosa OMIM:610127 CTSD 1509 HP:0001257 Spasticity OMIM:610127 CTSD 1509 HP:0001272 Cerebellar atrophy OMIM:610127 CTSD 1509 HP:0000369 Low-set ears OMIM:610127 CTSD 1509 HP:0002104 Apnea OMIM:610127 CTSD 1509 HP:0010864 Intellectual disability, severe OMIM:610127 CTSD 1509 HP:0001105 Retinal atrophy OMIM:610127 CTSD 1509 HP:0001251 Ataxia OMIM:610127 CTSD 1509 HP:0002133 Status epilepticus OMIM:228300 LHB 3972 HP:0000054 Micropenis OMIM:228300 LHB 3972 HP:0008226 Androgen insufficiency OMIM:228300 LHB 3972 HP:0012215 Testicular microlithiasis OMIM:228300 LHB 3972 HP:0000007 Autosomal recessive inheritance OMIM:228300 LHB 3972 HP:0000869 Secondary amenorrhea OMIM:228300 LHB 3972 HP:0000771 Gynecomastia OMIM:228300 LHB 3972 HP:0001939 Abnormality of metabolism/homeostasis OMIM:228300 LHB 3972 HP:0002225 Sparse pubic hair OMIM:228300 LHB 3972 HP:0002215 Sparse axillary hair OMIM:312300 AR 367 HP:0004349 Reduced bone mineral density OMIM:312300 AR 367 HP:0010788 Testicular neoplasm OMIM:312300 AR 367 HP:0000771 Gynecomastia OMIM:312300 AR 367 HP:0012873 Absent vas deferens OMIM:312300 AR 367 HP:0000008 Abnormality of female internal genitalia OMIM:312300 AR 367 HP:0000135 Hypogonadism OMIM:312300 AR 367 HP:0000054 Micropenis OMIM:312300 AR 367 HP:0000027 Azoospermia OMIM:312300 AR 367 HP:0000037 Male pseudohermaphroditism OMIM:312300 AR 367 HP:0010458 Female pseudohermaphroditism OMIM:312300 AR 367 HP:0000028 Cryptorchidism OMIM:312300 AR 367 HP:0000048 Bifid scrotum OMIM:312300 AR 367 HP:0000144 Decreased fertility OMIM:312300 AR 367 HP:0008736 Hypoplasia of penis OMIM:312300 AR 367 HP:0100627 Displacement of the external urethral meatus OMIM:312300 AR 367 HP:0001419 X-linked recessive inheritance OMIM:312300 AR 367 HP:0000047 Hypospadias OMIM:312300 AR 367 HP:0001547 Abnormality of the rib cage OMIM:312300 AR 367 HP:0000789 Infertility OMIM:105400 SOD1 6647 HP:0007024 Pseudobulbar paralysis OMIM:105400 SOD1 6647 HP:0002314 Degeneration of the lateral corticospinal tracts OMIM:105400 SOD1 6647 HP:0001425 Heterogeneous OMIM:105400 SOD1 6647 HP:0002380 Fasciculations OMIM:105400 SOD1 6647 HP:0001347 Hyperreflexia OMIM:105400 SOD1 6647 HP:0003394 Muscle cramps OMIM:105400 SOD1 6647 HP:0001324 Muscle weakness OMIM:105400 SOD1 6647 HP:0000006 Autosomal dominant inheritance OMIM:105400 SOD1 6647 HP:0007354 Amyotrophic lateral sclerosis OMIM:105400 SOD1 6647 HP:0001257 Spasticity OMIM:105400 SOD1 6647 HP:0002398 Degeneration of anterior horn cells OMIM:105400 SOD1 6647 HP:0010535 Sleep apnea OMIM:105400 SOD1 6647 HP:0003202 Skeletal muscle atrophy OMIM:105400 SOD1 6647 HP:0000007 Autosomal recessive inheritance OMIM:613854 GDF1 2657 HP:0000006 Autosomal dominant inheritance OMIM:613854 GDF1 2657 HP:0001669 Transposition of the great arteries OMIM:119900 HPGD 3248 HP:0000006 Autosomal dominant inheritance OMIM:119900 HPGD 3248 HP:0001217 Clubbing OMIM:217700 SLC4A11 83959 HP:0007759 Opacification of the corneal stroma OMIM:217700 SLC4A11 83959 HP:0000007 Autosomal recessive inheritance OMIM:217700 SLC4A11 83959 HP:0008005 Congenital corneal dystrophy OMIM:230900 GBA 2629 HP:0001903 Anemia OMIM:230900 GBA 2629 HP:0002205 Recurrent respiratory infections OMIM:230900 GBA 2629 HP:0001347 Hyperreflexia OMIM:230900 GBA 2629 HP:0000657 Oculomotor apraxia OMIM:230900 GBA 2629 HP:0002344 Progressive neurologic deterioration OMIM:230900 GBA 2629 HP:0001257 Spasticity OMIM:230900 GBA 2629 HP:0002059 Cerebral atrophy OMIM:230900 GBA 2629 HP:0002793 Abnormal pattern of respiration OMIM:230900 GBA 2629 HP:0001744 Splenomegaly OMIM:230900 GBA 2629 HP:0001645 Sudden cardiac death OMIM:230900 GBA 2629 HP:0000211 Trismus OMIM:230900 GBA 2629 HP:0001508 Failure to thrive OMIM:230900 GBA 2629 HP:0002100 Recurrent aspiration pneumonia OMIM:230900 GBA 2629 HP:0001824 Weight loss OMIM:230900 GBA 2629 HP:0002240 Hepatomegaly OMIM:230900 GBA 2629 HP:0001250 Seizures OMIM:230900 GBA 2629 HP:0000597 Ophthalmoparesis OMIM:230900 GBA 2629 HP:0000565 Esotropia OMIM:230900 GBA 2629 HP:0011968 Feeding difficulties OMIM:230900 GBA 2629 HP:0002104 Apnea OMIM:230900 GBA 2629 HP:0001263 Global developmental delay OMIM:230900 GBA 2629 HP:0001538 Protuberant abdomen OMIM:230900 GBA 2629 HP:0001873 Thrombocytopenia OMIM:230900 GBA 2629 HP:0002093 Respiratory insufficiency OMIM:230900 GBA 2629 HP:0002015 Dysphagia OMIM:230900 GBA 2629 HP:0000007 Autosomal recessive inheritance OMIM:230900 GBA 2629 HP:0002483 Bulbar signs OMIM:230900 GBA 2629 HP:0000486 Strabismus OMIM:230900 GBA 2629 HP:0001276 Hypertonia OMIM:230900 GBA 2629 HP:0001371 Flexion contracture OMIM:230900 GBA 2629 HP:0002063 Rigidity OMIM:615785 KRT13 3860 HP:0040009 Hyperparakeratosis OMIM:176960 PRKCA 5578 HP:0001428 Somatic mutation OMIM:176960 PRKCA 5578 HP:0011750 Neoplasm of the anterior pituitary OMIM:614862 PEX6 5190 HP:0008935 Generalized neonatal hypotonia OMIM:614862 PEX6 5190 HP:0000537 Epicanthus inversus OMIM:614862 PEX6 5190 HP:0001522 Death in infancy OMIM:614862 PEX6 5190 HP:0000582 Upslanted palpebral fissure OMIM:614862 PEX6 5190 HP:0008872 Feeding difficulties in infancy OMIM:614862 PEX6 5190 HP:0010655 Epiphyseal stippling OMIM:614862 PEX6 5190 HP:0002240 Hepatomegaly OMIM:614862 PEX6 5190 HP:0000316 Hypertelorism OMIM:614862 PEX6 5190 HP:0005280 Depressed nasal bridge OMIM:614862 PEX6 5190 HP:0000007 Autosomal recessive inheritance OMIM:614862 PEX6 5190 HP:0001250 Seizures OMIM:614862 PEX6 5190 HP:0000107 Renal cyst OMIM:229600 ALDOB 229 HP:0002240 Hepatomegaly OMIM:229600 ALDOB 229 HP:0001943 Hypoglycemia OMIM:229600 ALDOB 229 HP:0001942 Metabolic acidosis OMIM:229600 ALDOB 229 HP:0000114 Proximal tubulopathy OMIM:229600 ALDOB 229 HP:0001397 Hepatic steatosis OMIM:229600 ALDOB 229 HP:0003128 Lactic acidosis OMIM:229600 ALDOB 229 HP:0002018 Nausea OMIM:229600 ALDOB 229 HP:0003646 Bicarbonaturia OMIM:229600 ALDOB 229 HP:0001254 Lethargy OMIM:229600 ALDOB 229 HP:0001508 Failure to thrive OMIM:229600 ALDOB 229 HP:0001259 Coma OMIM:229600 ALDOB 229 HP:0002027 Abdominal pain OMIM:229600 ALDOB 229 HP:0000952 Jaundice OMIM:229600 ALDOB 229 HP:0000007 Autosomal recessive inheritance OMIM:229600 ALDOB 229 HP:0002904 Hyperbilirubinemia OMIM:229600 ALDOB 229 HP:0008273 Transient aminoaciduria OMIM:229600 ALDOB 229 HP:0004395 Malnutrition OMIM:229600 ALDOB 229 HP:0003109 Hyperphosphaturia OMIM:229600 ALDOB 229 HP:0001394 Cirrhosis OMIM:229600 ALDOB 229 HP:0003149 Hyperuricosuria OMIM:229600 ALDOB 229 HP:0002149 Hyperuricemia OMIM:229600 ALDOB 229 HP:0002239 Gastrointestinal hemorrhage OMIM:229600 ALDOB 229 HP:0002049 Proximal renal tubular acidosis OMIM:229600 ALDOB 229 HP:0002148 Hypophosphatemia OMIM:229600 ALDOB 229 HP:0003076 Glycosuria OMIM:229600 ALDOB 229 HP:0002910 Elevated hepatic transaminases OMIM:229600 ALDOB 229 HP:0001250 Seizures OMIM:229600 ALDOB 229 HP:0002013 Vomiting OMIM:229600 ALDOB 229 HP:0005973 Fructose intolerance OMIM:229600 ALDOB 229 HP:0001249 Intellectual disability OMIM:610125 OTX2 5015 HP:0001250 Seizures OMIM:610125 OTX2 5015 HP:0000028 Cryptorchidism OMIM:610125 OTX2 5015 HP:0001388 Joint laxity OMIM:610125 OTX2 5015 HP:0000589 Coloboma OMIM:610125 OTX2 5015 HP:0011755 Ectopic posterior pituitary OMIM:610125 OTX2 5015 HP:0000006 Autosomal dominant inheritance OMIM:610125 OTX2 5015 HP:0000556 Retinal dystrophy OMIM:610125 OTX2 5015 HP:0000054 Micropenis OMIM:610125 OTX2 5015 HP:0001263 Global developmental delay OMIM:610125 OTX2 5015 HP:0004322 Short stature OMIM:610125 OTX2 5015 HP:0000518 Cataract OMIM:610125 OTX2 5015 HP:0001252 Muscular hypotonia OMIM:610125 OTX2 5015 HP:0000175 Cleft palate OMIM:610125 OTX2 5015 HP:0000568 Microphthalmos OMIM:610125 OTX2 5015 HP:0000482 Microcornea OMIM:616269 SLC6A17 388662 HP:0000742 Self-mutilation OMIM:616269 SLC6A17 388662 HP:0000303 Mandibular prognathia OMIM:616269 SLC6A17 388662 HP:0001263 Global developmental delay OMIM:616269 SLC6A17 388662 HP:0000581 Blepharophimosis OMIM:616269 SLC6A17 388662 HP:0000400 Macrotia OMIM:616269 SLC6A17 388662 HP:0001249 Intellectual disability OMIM:616269 SLC6A17 388662 HP:0000343 Long philtrum OMIM:616269 SLC6A17 388662 HP:0000718 Aggressive behavior OMIM:600807 CCL11 6356 HP:0002099 Asthma OMIM:259440 PPIB 5479 HP:0002808 Kyphosis OMIM:259440 PPIB 5479 HP:0000007 Autosomal recessive inheritance OMIM:259440 PPIB 5479 HP:0005855 Multiple prenatal fractures OMIM:259440 PPIB 5479 HP:0000768 Pectus carinatum OMIM:259440 PPIB 5479 HP:0000592 Blue sclerae OMIM:259440 PPIB 5479 HP:0002650 Scoliosis OMIM:259440 PPIB 5479 HP:0002757 Recurrent fractures OMIM:259440 PPIB 5479 HP:0000703 Dentinogenesis imperfecta OMIM:259440 PPIB 5479 HP:0003023 Bowing of limbs due to multiple fractures OMIM:259440 PPIB 5479 HP:0002645 Wormian bones OMIM:259440 PPIB 5479 HP:0000767 Pectus excavatum OMIM:259440 PPIB 5479 HP:0008873 Disproportionate short-limb short stature OMIM:265120 SFTPB 6439 HP:0002094 Dyspnea OMIM:265120 SFTPB 6439 HP:0000961 Cyanosis OMIM:265120 SFTPB 6439 HP:0001217 Clubbing OMIM:265120 SFTPB 6439 HP:0006530 Interstitial pulmonary disease OMIM:265120 SFTPB 6439 HP:0002104 Apnea OMIM:265120 SFTPB 6439 HP:0001425 Heterogeneous OMIM:265120 SFTPB 6439 HP:0002789 Tachypnea OMIM:265120 SFTPB 6439 HP:0006517 Alveolar proteinosis OMIM:265120 SFTPB 6439 HP:0001939 Abnormality of metabolism/homeostasis OMIM:265120 SFTPB 6439 HP:0002098 Respiratory distress OMIM:265120 SFTPB 6439 HP:0005942 Desquamative interstitial pneumonitis OMIM:265120 SFTPB 6439 HP:0003678 Rapidly progressive OMIM:265120 SFTPB 6439 HP:0001508 Failure to thrive OMIM:265120 SFTPB 6439 HP:0002878 Respiratory failure OMIM:265120 SFTPB 6439 HP:0000007 Autosomal recessive inheritance OMIM:265120 SFTPB 6439 HP:0002092 Pulmonary hypertension OMIM:614841 GNRH1 2796 HP:0000458 Anosmia OMIM:614841 GNRH1 2796 HP:0000054 Micropenis OMIM:614841 GNRH1 2796 HP:0008734 Decreased testicular size OMIM:614841 GNRH1 2796 HP:0000823 Delayed puberty OMIM:614841 GNRH1 2796 HP:0000028 Cryptorchidism OMIM:614841 GNRH1 2796 HP:0000044 Hypogonadotrophic hypogonadism OMIM:614841 GNRH1 2796 HP:0000786 Primary amenorrhea OMIM:614841 GNRH1 2796 HP:0000006 Autosomal dominant inheritance OMIM:100800 FGFR3 2261 HP:0000463 Anteverted nares OMIM:100800 FGFR3 2261 HP:0001355 Megalencephaly OMIM:100800 FGFR3 2261 HP:0005733 Spinal stenosis with reduced interpedicular distance OMIM:100800 FGFR3 2261 HP:0008905 Rhizomelia OMIM:100800 FGFR3 2261 HP:0002512 Brain stem compression OMIM:100800 FGFR3 2261 HP:0002781 Upper airway obstruction OMIM:100800 FGFR3 2261 HP:0002970 Genu varum OMIM:100800 FGFR3 2261 HP:0000006 Autosomal dominant inheritance OMIM:100800 FGFR3 2261 HP:0000403 Recurrent otitis media OMIM:100800 FGFR3 2261 HP:0002104 Apnea OMIM:100800 FGFR3 2261 HP:0000238 Hydrocephalus OMIM:100800 FGFR3 2261 HP:0008921 Neonatal short-limb short stature OMIM:100800 FGFR3 2261 HP:0004060 Trident hand OMIM:100800 FGFR3 2261 HP:0000405 Conductive hearing impairment OMIM:100800 FGFR3 2261 HP:0000975 Hyperhidrosis OMIM:100800 FGFR3 2261 HP:0001156 Brachydactyly syndrome OMIM:100800 FGFR3 2261 HP:0005280 Depressed nasal bridge OMIM:100800 FGFR3 2261 HP:0002808 Kyphosis OMIM:100800 FGFR3 2261 HP:0100864 Short femoral neck OMIM:100800 FGFR3 2261 HP:0001377 Limited elbow extension OMIM:100800 FGFR3 2261 HP:0008947 Infantile muscular hypotonia OMIM:100800 FGFR3 2261 HP:0001511 Intrauterine growth retardation OMIM:100800 FGFR3 2261 HP:0001513 Obesity OMIM:100800 FGFR3 2261 HP:0002119 Ventriculomegaly OMIM:100800 FGFR3 2261 HP:0002938 Lumbar hyperlordosis OMIM:100800 FGFR3 2261 HP:0000774 Narrow chest OMIM:100800 FGFR3 2261 HP:0002167 Neurological speech impairment OMIM:100800 FGFR3 2261 HP:0008414 Lumbar kyphosis in infancy OMIM:100800 FGFR3 2261 HP:0000256 Macrocephaly OMIM:100800 FGFR3 2261 HP:0002007 Frontal bossing OMIM:100800 FGFR3 2261 HP:0003042 Elbow dislocation OMIM:100800 FGFR3 2261 HP:0000944 Abnormality of the metaphyses OMIM:100800 FGFR3 2261 HP:0001252 Muscular hypotonia OMIM:100800 FGFR3 2261 HP:0000956 Acanthosis nigricans OMIM:100800 FGFR3 2261 HP:0000164 Abnormality of the teeth OMIM:100800 FGFR3 2261 HP:0000272 Malar flattening OMIM:100800 FGFR3 2261 HP:0001645 Sudden cardiac death OMIM:100800 FGFR3 2261 HP:0100818 Long thorax OMIM:100800 FGFR3 2261 HP:0002677 Small foramen magnum OMIM:100800 FGFR3 2261 HP:0001270 Motor delay OMIM:100800 FGFR3 2261 HP:0003015 Flared metaphysis OMIM:100800 FGFR3 2261 HP:0002761 Generalized joint laxity OMIM:100800 FGFR3 2261 HP:0000772 Abnormality of the ribs OMIM:100800 FGFR3 2261 HP:0003307 Hyperlordosis OMIM:100800 FGFR3 2261 HP:0003093 Limited hip extension OMIM:100800 FGFR3 2261 HP:0001382 Joint hypermobility OMIM:100800 FGFR3 2261 HP:0002652 Skeletal dysplasia OMIM:100800 FGFR3 2261 HP:0009826 Limb undergrowth OMIM:100800 FGFR3 2261 HP:0003312 Abnormal form of the vertebral bodies OMIM:100800 FGFR3 2261 HP:0003416 Spinal canal stenosis OMIM:100800 FGFR3 2261 HP:0011800 Midface retrusion OMIM:612347 KCNE1 3753 HP:0001279 Syncope OMIM:612347 KCNE1 3753 HP:0000007 Autosomal recessive inheritance OMIM:612347 KCNE1 3753 HP:0000407 Sensorineural hearing impairment OMIM:612347 KCNE1 3753 HP:0001657 Prolonged QT interval OMIM:614723 APRT 353 HP:0000790 Hematuria OMIM:614723 APRT 353 HP:0000010 Recurrent urinary tract infections OMIM:614723 APRT 353 HP:0000112 Nephropathy OMIM:614723 APRT 353 HP:0000787 Nephrolithiasis OMIM:614723 APRT 353 HP:0000007 Autosomal recessive inheritance OMIM:614723 APRT 353 HP:0000083 Renal insufficiency OMIM:602483 GNAI3 2773 HP:0000006 Autosomal dominant inheritance OMIM:602483 GNAI3 2773 HP:0000160 Narrow mouth OMIM:602483 GNAI3 2773 HP:0002104 Apnea OMIM:602483 GNAI3 2773 HP:0007628 Mandibular condyle hypoplasia OMIM:602483 GNAI3 2773 HP:0008559 Hypoplastic superior helix OMIM:602483 GNAI3 2773 HP:0000402 Stenosis of the external auditory canal OMIM:602483 GNAI3 2773 HP:0004453 Overfolding of the superior helices OMIM:602483 GNAI3 2773 HP:0009088 Speech articulation difficulties OMIM:602483 GNAI3 2773 HP:0008537 Cleft at the superior portion of the pinna OMIM:602483 GNAI3 2773 HP:0000358 Posteriorly rotated ears OMIM:602483 GNAI3 2773 HP:0000347 Micrognathia OMIM:602483 GNAI3 2773 HP:0005216 Chewing difficulties OMIM:602483 GNAI3 2773 HP:0000678 Dental crowding OMIM:602483 GNAI3 2773 HP:0000369 Low-set ears OMIM:602483 GNAI3 2773 HP:0000384 Preauricular skin tag OMIM:602483 GNAI3 2773 HP:0009102 Anterior open-bite malocclusion OMIM:602483 GNAI3 2773 HP:0000378 Cupped ear OMIM:602483 GNAI3 2773 HP:0000311 Round face OMIM:602483 GNAI3 2773 HP:0000175 Cleft palate OMIM:602483 GNAI3 2773 HP:0007627 Mandibular condyle aplasia OMIM:602483 GNAI3 2773 HP:0000256 Macrocephaly OMIM:602483 GNAI3 2773 HP:0000689 Dental malocclusion OMIM:602483 GNAI3 2773 HP:0004451 Postauricular skin tag OMIM:602483 GNAI3 2773 HP:0000162 Glossoptosis OMIM:300661 PRPS1 5631 HP:0000083 Renal insufficiency OMIM:300661 PRPS1 5631 HP:0000822 Hypertension OMIM:300661 PRPS1 5631 HP:0000407 Sensorineural hearing impairment OMIM:300661 PRPS1 5631 HP:0001249 Intellectual disability OMIM:300661 PRPS1 5631 HP:0001251 Ataxia OMIM:300661 PRPS1 5631 HP:0100543 Cognitive impairment OMIM:300661 PRPS1 5631 HP:0001252 Muscular hypotonia OMIM:300661 PRPS1 5631 HP:0001419 X-linked recessive inheritance OMIM:300661 PRPS1 5631 HP:0000597 Ophthalmoparesis OMIM:300661 PRPS1 5631 HP:0000791 Uric acid nephrolithiasis OMIM:300661 PRPS1 5631 HP:0001997 Gout OMIM:300661 PRPS1 5631 HP:0002149 Hyperuricemia OMIM:300661 PRPS1 5631 HP:0003149 Hyperuricosuria OMIM:300661 PRPS1 5631 HP:0011675 Arrhythmia OMIM:300661 PRPS1 5631 HP:0001270 Motor delay OMIM:300661 PRPS1 5631 HP:0001679 Abnormality of the aorta OMIM:300661 PRPS1 5631 HP:0000486 Strabismus OMIM:300661 PRPS1 5631 HP:0003202 Skeletal muscle atrophy OMIM:300661 PRPS1 5631 HP:0002167 Neurological speech impairment OMIM:300661 PRPS1 5631 HP:0002311 Incoordination OMIM:300661 PRPS1 5631 HP:0001639 Hypertrophic cardiomyopathy OMIM:615277 LIM2 3982 HP:0007780 Cortical pulverulent cataract OMIM:615277 LIM2 3982 HP:0000007 Autosomal recessive inheritance OMIM:208400 AGA 175 HP:0000926 Platyspondyly OMIM:208400 AGA 175 HP:0000154 Wide mouth OMIM:208400 AGA 175 HP:0002684 Thickened calvaria OMIM:208400 AGA 175 HP:0002650 Scoliosis OMIM:208400 AGA 175 HP:0002750 Delayed skeletal maturation OMIM:208400 AGA 175 HP:0000768 Pectus carinatum OMIM:208400 AGA 175 HP:0001763 Pes planus OMIM:208400 AGA 175 HP:0001939 Abnormality of metabolism/homeostasis OMIM:208400 AGA 175 HP:0000252 Microcephaly OMIM:208400 AGA 175 HP:0001252 Muscular hypotonia OMIM:208400 AGA 175 HP:0000248 Brachycephaly OMIM:208400 AGA 175 HP:0002360 Sleep disturbance OMIM:208400 AGA 175 HP:0001609 Hoarse voice OMIM:208400 AGA 175 HP:0100543 Cognitive impairment OMIM:208400 AGA 175 HP:0001744 Splenomegaly OMIM:208400 AGA 175 HP:0004493 Craniofacial hyperostosis OMIM:208400 AGA 175 HP:0001653 Mitral regurgitation OMIM:208400 AGA 175 HP:0000280 Coarse facial features OMIM:208400 AGA 175 HP:0100790 Hernia OMIM:208400 AGA 175 HP:0004568 Beaking of vertebral bodies OMIM:208400 AGA 175 HP:0000356 Abnormality of the outer ear OMIM:208400 AGA 175 HP:0001388 Joint laxity OMIM:208400 AGA 175 HP:0002376 Developmental regression OMIM:208400 AGA 175 HP:0002756 Pathologic fracture OMIM:208400 AGA 175 HP:0000212 Gingival overgrowth OMIM:208400 AGA 175 HP:0001071 Angiokeratoma corporis diffusum OMIM:208400 AGA 175 HP:0002808 Kyphosis OMIM:208400 AGA 175 HP:0002167 Neurological speech impairment OMIM:208400 AGA 175 HP:0001249 Intellectual disability OMIM:208400 AGA 175 HP:0002205 Recurrent respiratory infections OMIM:208400 AGA 175 HP:0001250 Seizures OMIM:208400 AGA 175 HP:0002240 Hepatomegaly OMIM:208400 AGA 175 HP:0002024 Malabsorption OMIM:208400 AGA 175 HP:0001257 Spasticity OMIM:208400 AGA 175 HP:0000303 Mandibular prognathia OMIM:208400 AGA 175 HP:0000053 Macroorchidism OMIM:208400 AGA 175 HP:0004322 Short stature OMIM:208400 AGA 175 HP:0000283 Broad face OMIM:208400 AGA 175 HP:0001376 Limitation of joint mobility OMIM:208400 AGA 175 HP:0000388 Otitis media OMIM:208400 AGA 175 HP:0005280 Depressed nasal bridge OMIM:208400 AGA 175 HP:0003302 Spondylolisthesis OMIM:208400 AGA 175 HP:0000463 Anteverted nares OMIM:208400 AGA 175 HP:0001061 Acne OMIM:208400 AGA 175 HP:0002738 Hypoplastic frontal sinuses OMIM:208400 AGA 175 HP:0001922 Vacuolated lymphocytes OMIM:208400 AGA 175 HP:0000750 Delayed speech and language development OMIM:208400 AGA 175 HP:0000158 Macroglossia OMIM:208400 AGA 175 HP:0012068 Aspartylglucosaminuria OMIM:208400 AGA 175 HP:0000179 Thick lower lip vermilion OMIM:208400 AGA 175 HP:0003196 Short nose OMIM:208400 AGA 175 HP:0001875 Neutropenia OMIM:208400 AGA 175 HP:0002997 Abnormality of the ulna OMIM:208400 AGA 175 HP:0001537 Umbilical hernia OMIM:208400 AGA 175 HP:0100022 Abnormality of movement OMIM:208400 AGA 175 HP:0003304 Spondylolysis OMIM:208400 AGA 175 HP:0001369 Arthritis OMIM:208400 AGA 175 HP:0000670 Carious teeth OMIM:208400 AGA 175 HP:0002014 Diarrhea OMIM:208400 AGA 175 HP:0002059 Cerebral atrophy OMIM:208400 AGA 175 HP:0000007 Autosomal recessive inheritance OMIM:208400 AGA 175 HP:0000518 Cataract OMIM:208400 AGA 175 HP:0000943 Dysostosis multiplex OMIM:208400 AGA 175 HP:0100729 Large face OMIM:208400 AGA 175 HP:0003103 Abnormal cortical bone morphology OMIM:208400 AGA 175 HP:0000157 Abnormality of the tongue OMIM:208400 AGA 175 HP:0000316 Hypertelorism OMIM:253600 CAPN3 825 HP:0001880 Eosinophilia OMIM:253600 CAPN3 825 HP:0001371 Flexion contracture OMIM:253600 CAPN3 825 HP:0003691 Scapular winging OMIM:253600 CAPN3 825 HP:0002312 Clumsiness OMIM:253600 CAPN3 825 HP:0003560 Muscular dystrophy OMIM:253600 CAPN3 825 HP:0003236 Elevated serum creatine phosphokinase OMIM:253600 CAPN3 825 HP:0007126 Proximal amyotrophy OMIM:253600 CAPN3 825 HP:0002355 Difficulty walking OMIM:253600 CAPN3 825 HP:0010628 Facial palsy OMIM:253600 CAPN3 825 HP:0000007 Autosomal recessive inheritance OMIM:613320 PAM16 51025 HP:0002092 Pulmonary hypertension OMIM:613320 PAM16 51025 HP:0008786 Iliac crest serration OMIM:613320 PAM16 51025 HP:0005280 Depressed nasal bridge OMIM:613320 PAM16 51025 HP:0000369 Low-set ears OMIM:613320 PAM16 51025 HP:0003175 Hypoplastic ischia OMIM:613320 PAM16 51025 HP:0008551 Microtia OMIM:613320 PAM16 51025 HP:0008936 Muscular hypotonia of the trunk OMIM:613320 PAM16 51025 HP:0002007 Frontal bossing OMIM:613320 PAM16 51025 HP:0003177 Squared iliac bones OMIM:613320 PAM16 51025 HP:0004565 Severe platyspondyly OMIM:613320 PAM16 51025 HP:0003026 Short long bone OMIM:613320 PAM16 51025 HP:0003196 Short nose OMIM:613320 PAM16 51025 HP:0003021 Metaphyseal cupping OMIM:613320 PAM16 51025 HP:0000773 Short ribs OMIM:613320 PAM16 51025 HP:0000239 Large fontanelles OMIM:613320 PAM16 51025 HP:0002645 Wormian bones OMIM:613320 PAM16 51025 HP:0000774 Narrow chest OMIM:613320 PAM16 51025 HP:0002983 Micromelia OMIM:613320 PAM16 51025 HP:0000311 Round face OMIM:613320 PAM16 51025 HP:0002002 Deep philtrum OMIM:613320 PAM16 51025 HP:0011220 Prominent forehead OMIM:613320 PAM16 51025 HP:0001591 Bell-shaped thorax OMIM:613320 PAM16 51025 HP:0001640 Cardiomegaly OMIM:613320 PAM16 51025 HP:0000470 Short neck OMIM:613320 PAM16 51025 HP:0001263 Global developmental delay OMIM:613320 PAM16 51025 HP:0002789 Tachypnea OMIM:613320 PAM16 51025 HP:0004322 Short stature OMIM:613320 PAM16 51025 HP:0002750 Delayed skeletal maturation OMIM:613320 PAM16 51025 HP:0001518 Small for gestational age OMIM:613320 PAM16 51025 HP:0000007 Autosomal recessive inheritance OMIM:613320 PAM16 51025 HP:0000463 Anteverted nares ORPHANET:2248 GJA1 2697 HP:0004383 Hypoplastic left heart ORPHANET:2248 GJA1 2697 HP:0002916 Abnormality of chromosome segregation ORPHANET:2248 GJA1 2697 HP:0001679 Abnormality of the aorta ORPHANET:2248 GJA1 2697 HP:0001631 Defect in the atrial septum ORPHANET:2248 GJA1 2697 HP:0001643 Patent ductus arteriosus ORPHANET:2248 GJA1 2697 HP:0001633 Abnormality of the mitral valve ORPHANET:2248 GJA1 2697 HP:0009800 Maternal diabetes ORPHANET:2248 NKX2-5 1482 HP:0004383 Hypoplastic left heart ORPHANET:2248 NKX2-5 1482 HP:0002916 Abnormality of chromosome segregation ORPHANET:2248 NKX2-5 1482 HP:0001679 Abnormality of the aorta ORPHANET:2248 NKX2-5 1482 HP:0001631 Defect in the atrial septum ORPHANET:2248 NKX2-5 1482 HP:0001643 Patent ductus arteriosus ORPHANET:2248 NKX2-5 1482 HP:0001633 Abnormality of the mitral valve ORPHANET:2248 NKX2-5 1482 HP:0009800 Maternal diabetes OMIM:256850 GAN 8139 HP:0002650 Scoliosis OMIM:256850 GAN 8139 HP:0001249 Intellectual disability OMIM:256850 GAN 8139 HP:0002062 Morphological abnormality of the pyramidal tract OMIM:256850 GAN 8139 HP:0001260 Dysarthria OMIM:256850 GAN 8139 HP:0001317 Abnormality of the cerebellum OMIM:256850 GAN 8139 HP:0003693 Distal amyotrophy OMIM:256850 GAN 8139 HP:0001762 Talipes equinovarus OMIM:256850 GAN 8139 HP:0000639 Nystagmus OMIM:256850 GAN 8139 HP:0002936 Distal sensory impairment OMIM:256850 GAN 8139 HP:0003677 Slow progression OMIM:256850 GAN 8139 HP:0003390 Sensory axonal neuropathy OMIM:256850 GAN 8139 HP:0002600 Hyporeflexia of lower limbs OMIM:256850 GAN 8139 HP:0010628 Facial palsy OMIM:256850 GAN 8139 HP:0002460 Distal muscle weakness OMIM:256850 GAN 8139 HP:0007256 Abnormal pyramidal signs OMIM:256850 GAN 8139 HP:0001155 Abnormality of the hand OMIM:256850 GAN 8139 HP:0002522 Areflexia of lower limbs OMIM:256850 GAN 8139 HP:0003376 Steppage gait OMIM:256850 GAN 8139 HP:0002212 Curly hair OMIM:256850 GAN 8139 HP:0001347 Hyperreflexia OMIM:256850 GAN 8139 HP:0001761 Pes cavus OMIM:256850 GAN 8139 HP:0003621 Juvenile onset OMIM:256850 GAN 8139 HP:0000007 Autosomal recessive inheritance OMIM:256850 GAN 8139 HP:0003812 Phenotypic variability OMIM:256850 GAN 8139 HP:0001258 Spastic paraplegia OMIM:256850 GAN 8139 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:256850 GAN 8139 HP:0003701 Proximal muscle weakness OMIM:256850 GAN 8139 HP:0001763 Pes planus OMIM:256850 GAN 8139 HP:0007002 Motor axonal neuropathy OMIM:612653 SLC4A1 6521 HP:0000006 Autosomal dominant inheritance OMIM:612653 SLC4A1 6521 HP:0004444 Spherocytosis OMIM:612653 SLC4A1 6521 HP:0001878 Hemolytic anemia OMIM:612653 SLC4A1 6521 HP:0005502 Increased red cell osmotic fragility OMIM:612653 SLC4A1 6521 HP:0001923 Reticulocytosis OMIM:616199 GYG1 2992 HP:0002460 Distal muscle weakness OMIM:616199 GYG1 2992 HP:0003202 Skeletal muscle atrophy OMIM:602875 NPR2 4882 HP:0002984 Hypoplasia of the radius OMIM:602875 NPR2 4882 HP:0002938 Lumbar hyperlordosis OMIM:602875 NPR2 4882 HP:0001831 Short toe OMIM:602875 NPR2 4882 HP:0001799 Short nail OMIM:602875 NPR2 4882 HP:0000268 Dolichocephaly OMIM:602875 NPR2 4882 HP:0008484 Thoracolumbar interpediculate narrowness OMIM:602875 NPR2 4882 HP:0002650 Scoliosis OMIM:602875 NPR2 4882 HP:0006009 Broad phalanx OMIM:602875 NPR2 4882 HP:0002007 Frontal bossing OMIM:602875 NPR2 4882 HP:0004568 Beaking of vertebral bodies OMIM:602875 NPR2 4882 HP:0003086 Acromesomelia OMIM:602875 NPR2 4882 HP:0001500 Broad finger OMIM:602875 NPR2 4882 HP:0001230 Broad metacarpals OMIM:602875 NPR2 4882 HP:0006487 Bowing of the long bones OMIM:602875 NPR2 4882 HP:0000912 Sprengel anomaly OMIM:602875 NPR2 4882 HP:0002986 Radial bowing OMIM:602875 NPR2 4882 HP:0010230 Cone-shaped epiphyses of the phalanges of the hand OMIM:602875 NPR2 4882 HP:0003312 Abnormal form of the vertebral bodies OMIM:602875 NPR2 4882 HP:0003196 Short nose OMIM:602875 NPR2 4882 HP:0007516 Redundant skin on fingers OMIM:602875 NPR2 4882 HP:0001376 Limitation of joint mobility OMIM:602875 NPR2 4882 HP:0000007 Autosomal recessive inheritance OMIM:602875 NPR2 4882 HP:0001783 Broad metatarsal OMIM:602875 NPR2 4882 HP:0003307 Hyperlordosis OMIM:602875 NPR2 4882 HP:0003015 Flared metaphysis OMIM:602875 NPR2 4882 HP:0003300 Ovoid vertebral bodies OMIM:602875 NPR2 4882 HP:0001156 Brachydactyly syndrome OMIM:602875 NPR2 4882 HP:0010049 Short metacarpal OMIM:602875 NPR2 4882 HP:0003498 Disproportionate short stature OMIM:602875 NPR2 4882 HP:0004322 Short stature OMIM:602875 NPR2 4882 HP:0002983 Micromelia OMIM:602875 NPR2 4882 HP:0001847 Long hallux OMIM:602875 NPR2 4882 HP:0009803 Short phalanx of finger OMIM:602875 NPR2 4882 HP:0001377 Limited elbow extension OMIM:602875 NPR2 4882 HP:0004633 Lower thoracic kyphosis OMIM:602875 NPR2 4882 HP:0005280 Depressed nasal bridge OMIM:602875 NPR2 4882 HP:0001388 Joint laxity OMIM:602875 NPR2 4882 HP:0011220 Prominent forehead OMIM:602875 NPR2 4882 HP:0001382 Joint hypermobility OMIM:602875 NPR2 4882 HP:0005619 Thoracolumbar kyphosis OMIM:602875 NPR2 4882 HP:0010743 Short metatarsal OMIM:602875 NPR2 4882 HP:0002808 Kyphosis OMIM:601316 EYA4 2070 HP:0000006 Autosomal dominant inheritance OMIM:601316 EYA4 2070 HP:0000407 Sensorineural hearing impairment OMIM:112250 MTAP 4507 HP:0100254 Stenosis of the medullary cavity of the long bones OMIM:112250 MTAP 4507 HP:0000963 Thin skin OMIM:112250 MTAP 4507 HP:0000006 Autosomal dominant inheritance OMIM:112250 MTAP 4507 HP:0003202 Skeletal muscle atrophy OMIM:112250 MTAP 4507 HP:0000978 Bruising susceptibility OMIM:112250 MTAP 4507 HP:0007819 Presenile cataracts OMIM:112250 MTAP 4507 HP:0003198 Myopathy OMIM:112250 MTAP 4507 HP:0005686 Patchy osteosclerosis OMIM:112250 MTAP 4507 HP:0003084 Fractures of the long bones OMIM:112250 MTAP 4507 HP:0002216 Premature graying of hair OMIM:112250 MTAP 4507 HP:0012315 Histiocytoma OMIM:112250 MTAP 4507 HP:0000938 Osteopenia OMIM:112250 MTAP 4507 HP:0002756 Pathologic fracture OMIM:112250 MTAP 4507 HP:0003701 Proximal muscle weakness OMIM:112250 MTAP 4507 HP:0000977 Soft skin OMIM:112250 MTAP 4507 HP:0005010 Osteomyelitis leading to amputation due to slow healing fractures OMIM:112250 MTAP 4507 HP:0005045 Diaphyseal cortical sclerosis OMIM:112250 MTAP 4507 HP:0003690 Limb muscle weakness OMIM:112250 MTAP 4507 HP:0100244 Fibrosarcoma OMIM:112250 MTAP 4507 HP:0003676 Progressive disorder OMIM:112250 MTAP 4507 HP:0002669 Osteosarcoma OMIM:112250 MTAP 4507 HP:0002979 Bowing of the legs OMIM:147480 ATP8B1 5205 HP:0200148 Abnormal liver function tests during pregnancy OMIM:147480 ATP8B1 5205 HP:0001406 Intrahepatic cholestasis OMIM:147480 ATP8B1 5205 HP:0200150 Increased serum bile acid concentration during pregnancy OMIM:147480 ATP8B1 5205 HP:0001622 Premature birth OMIM:147480 ATP8B1 5205 HP:0000989 Pruritus OMIM:147480 ATP8B1 5205 HP:0000006 Autosomal dominant inheritance OMIM:615095 ZNF335 63925 HP:0000426 Prominent nasal bridge OMIM:615095 ZNF335 63925 HP:0001257 Spasticity OMIM:615095 ZNF335 63925 HP:0001272 Cerebellar atrophy OMIM:615095 ZNF335 63925 HP:0002171 Gliosis OMIM:615095 ZNF335 63925 HP:0003577 Congenital onset OMIM:615095 ZNF335 63925 HP:0002804 Arthrogryposis multiplex congenita OMIM:615095 ZNF335 63925 HP:0000340 Sloping forehead OMIM:615095 ZNF335 63925 HP:0001518 Small for gestational age OMIM:615095 ZNF335 63925 HP:0000007 Autosomal recessive inheritance OMIM:615095 ZNF335 63925 HP:0000453 Choanal atresia OMIM:615095 ZNF335 63925 HP:0000252 Microcephaly OMIM:615095 ZNF335 63925 HP:0001511 Intrauterine growth retardation OMIM:615095 ZNF335 63925 HP:0011344 Severe global developmental delay OMIM:615095 ZNF335 63925 HP:0000518 Cataract OMIM:615095 ZNF335 63925 HP:0002059 Cerebral atrophy OMIM:615095 ZNF335 63925 HP:0012448 Delayed myelination OMIM:615095 ZNF335 63925 HP:0000347 Micrognathia OMIM:400045 SRY 6736 HP:0100779 Urogenital sinus anomaly OMIM:400045 SRY 6736 HP:0000048 Bifid scrotum OMIM:400045 SRY 6736 HP:0000028 Cryptorchidism OMIM:400045 SRY 6736 HP:0008736 Hypoplasia of penis OMIM:400045 SRY 6736 HP:0100627 Displacement of the external urethral meatus OMIM:400045 SRY 6736 HP:0010459 True hermaphroditism OMIM:400045 SRY 6736 HP:0012245 Sex reversal OMIM:400045 SRY 6736 HP:0001450 Y-linked inheritance OMIM:400045 SRY 6736 HP:0000147 Polycystic ovaries OMIM:400045 SRY 6736 HP:0000144 Decreased fertility OMIM:400045 SRY 6736 HP:0000022 Abnormality of male internal genitalia OMIM:400045 SRY 6736 HP:0000046 Scrotal hypoplasia OMIM:607271 CASP8 841 HP:0002090 Pneumonia OMIM:607271 CASP8 841 HP:0002028 Chronic diarrhea OMIM:607271 CASP8 841 HP:0005384 Defective B cell activation OMIM:607271 CASP8 841 HP:0001508 Failure to thrive OMIM:607271 CASP8 841 HP:0001744 Splenomegaly OMIM:607271 CASP8 841 HP:0005419 Decreased T cell activation OMIM:607271 CASP8 841 HP:0000964 Eczema OMIM:607271 CASP8 841 HP:0002716 Lymphadenopathy OMIM:607271 CASP8 841 HP:0002099 Asthma OMIM:607271 CASP8 841 HP:0000007 Autosomal recessive inheritance OMIM:607271 CASP8 841 HP:0005425 Recurrent sinopulmonary infections OMIM:607271 CASP8 841 HP:0004322 Short stature OMIM:615395 MRPL44 65080 HP:0001639 Hypertrophic cardiomyopathy OMIM:615395 MRPL44 65080 HP:0002151 Increased serum lactate OMIM:615395 MRPL44 65080 HP:0003593 Infantile onset OMIM:615395 MRPL44 65080 HP:0001414 Microvesicular hepatic steatosis OMIM:615395 MRPL44 65080 HP:0002910 Elevated hepatic transaminases OMIM:615395 MRPL44 65080 HP:0000007 Autosomal recessive inheritance OMIM:615395 MRPL44 65080 HP:0003828 Variable expressivity OMIM:614099 IFT43 112752 HP:0000958 Dry skin OMIM:614099 IFT43 112752 HP:0000090 Nephronophthisis OMIM:614099 IFT43 112752 HP:0008070 Sparse hair OMIM:614099 IFT43 112752 HP:0001388 Joint laxity OMIM:614099 IFT43 112752 HP:0000268 Dolichocephaly OMIM:614099 IFT43 112752 HP:0000347 Micrognathia OMIM:614099 IFT43 112752 HP:0000256 Macrocephaly OMIM:614099 IFT43 112752 HP:0000973 Cutis laxa OMIM:614099 IFT43 112752 HP:0003774 Stage 5 chronic kidney disease OMIM:614099 IFT43 112752 HP:0000007 Autosomal recessive inheritance OMIM:614099 IFT43 112752 HP:0001159 Syndactyly OMIM:614099 IFT43 112752 HP:0001799 Short nail OMIM:614099 IFT43 112752 HP:0000685 Hypoplasia of teeth OMIM:614099 IFT43 112752 HP:0004322 Short stature OMIM:614099 IFT43 112752 HP:0000968 Ectodermal dysplasia OMIM:614099 IFT43 112752 HP:0001156 Brachydactyly syndrome OMIM:614099 IFT43 112752 HP:0000687 Widely spaced teeth OMIM:614099 IFT43 112752 HP:0001394 Cirrhosis OMIM:614099 IFT43 112752 HP:0000232 Everted lower lip vermilion OMIM:614099 IFT43 112752 HP:0002007 Frontal bossing OMIM:614099 IFT43 112752 HP:0000506 Telecanthus OMIM:614099 IFT43 112752 HP:0000774 Narrow chest OMIM:614099 IFT43 112752 HP:0002213 Fine hair OMIM:614099 IFT43 112752 HP:0001821 Broad nail OMIM:614099 IFT43 112752 HP:0004969 Peripheral pulmonary artery stenosis OMIM:616078 SETBP1 26040 HP:0001270 Motor delay OMIM:616078 SETBP1 26040 HP:0001249 Intellectual disability OMIM:616078 SETBP1 26040 HP:0000316 Hypertelorism OMIM:616078 SETBP1 26040 HP:0000494 Downslanted palpebral fissures OMIM:616078 SETBP1 26040 HP:0001250 Seizures OMIM:616078 SETBP1 26040 HP:0000369 Low-set ears OMIM:616078 SETBP1 26040 HP:0000248 Brachycephaly OMIM:616078 SETBP1 26040 HP:0000189 Narrow palate OMIM:616078 SETBP1 26040 HP:0000218 High palate OMIM:616078 SETBP1 26040 HP:0000307 Pointed chin OMIM:616078 SETBP1 26040 HP:0001344 Absent speech OMIM:616078 SETBP1 26040 HP:0000219 Thin upper lip vermilion OMIM:616078 SETBP1 26040 HP:0000276 Long face OMIM:616078 SETBP1 26040 HP:0000664 Synophrys OMIM:616078 SETBP1 26040 HP:0000678 Dental crowding OMIM:616078 SETBP1 26040 HP:0007018 Attention deficit hyperactivity disorder OMIM:616078 SETBP1 26040 HP:0000508 Ptosis OMIM:616304 LRP4 4038 HP:0000508 Ptosis OMIM:616304 LRP4 4038 HP:0002355 Difficulty walking OMIM:616304 LRP4 4038 HP:0001265 Hyporeflexia OMIM:616304 LRP4 4038 HP:0011968 Feeding difficulties OMIM:611560 RPGRIP1L 23322 HP:0000007 Autosomal recessive inheritance OMIM:611560 RPGRIP1L 23322 HP:0100259 Postaxial polydactyly OMIM:611560 RPGRIP1L 23322 HP:0000508 Ptosis OMIM:611560 RPGRIP1L 23322 HP:0001249 Intellectual disability OMIM:611560 RPGRIP1L 23322 HP:0000090 Nephronophthisis OMIM:611560 RPGRIP1L 23322 HP:0001251 Ataxia OMIM:611560 RPGRIP1L 23322 HP:0000657 Oculomotor apraxia OMIM:611560 RPGRIP1L 23322 HP:0002084 Encephalocele OMIM:611560 RPGRIP1L 23322 HP:0000639 Nystagmus OMIM:611560 RPGRIP1L 23322 HP:0002419 Molar tooth sign on MRI OMIM:612781 GHRHR 2692 HP:0004322 Short stature OMIM:612781 GHRHR 2692 HP:0000007 Autosomal recessive inheritance OMIM:612781 GHRHR 2692 HP:0002750 Delayed skeletal maturation OMIM:612781 GHRHR 2692 HP:0000824 Growth hormone deficiency OMIM:612781 GH1 2688 HP:0004322 Short stature OMIM:612781 GH1 2688 HP:0000007 Autosomal recessive inheritance OMIM:612781 GH1 2688 HP:0002750 Delayed skeletal maturation OMIM:612781 GH1 2688 HP:0000824 Growth hormone deficiency OMIM:600803 ABCB4 5244 HP:0011980 Cholesterol gallstones OMIM:600803 ABCB4 5244 HP:0001081 Cholelithiasis OMIM:600803 ABCB4 5244 HP:0000952 Jaundice OMIM:600803 ABCB4 5244 HP:0000007 Autosomal recessive inheritance OMIM:600803 ABCB4 5244 HP:0003155 Elevated alkaline phosphatase OMIM:600803 ABCB4 5244 HP:0001082 Cholecystitis OMIM:600803 ABCB4 5244 HP:0002910 Elevated hepatic transaminases OMIM:600803 ABCB4 5244 HP:0001395 Hepatic fibrosis OMIM:600803 ABCB4 5244 HP:0001733 Pancreatitis OMIM:600803 ABCB4 5244 HP:0000006 Autosomal dominant inheritance OMIM:600803 ABCB4 5244 HP:0030151 Cholangitis OMIM:158350 PTEN 5728 HP:0010609 Skin tags OMIM:158350 PTEN 5728 HP:0007400 Irregular hyperpigmentation OMIM:158350 PTEN 5728 HP:0000995 Melanocytic nevus OMIM:158350 PTEN 5728 HP:0009721 Shagreen patch OMIM:158350 PTEN 5728 HP:0100730 Bronchogenic cyst OMIM:158350 PTEN 5728 HP:0000138 Ovarian cyst OMIM:158350 PTEN 5728 HP:0000494 Downslanted palpebral fissures OMIM:158350 PTEN 5728 HP:0000821 Hypothyroidism OMIM:158350 PTEN 5728 HP:0000972 Palmoplantar hyperkeratosis OMIM:158350 PTEN 5728 HP:0000160 Narrow mouth OMIM:158350 PTEN 5728 HP:0002311 Incoordination OMIM:158350 PTEN 5728 HP:0000615 Abnormality of the pupil OMIM:158350 PTEN 5728 HP:0000518 Cataract OMIM:158350 PTEN 5728 HP:0000218 High palate OMIM:158350 PTEN 5728 HP:0002650 Scoliosis OMIM:158350 PTEN 5728 HP:0004375 Neoplasm of the nervous system OMIM:158350 PTEN 5728 HP:0002017 Nausea and vomiting OMIM:158350 PTEN 5728 HP:0100543 Cognitive impairment OMIM:158350 PTEN 5728 HP:0001829 Foot polydactyly OMIM:158350 PTEN 5728 HP:0002269 Abnormality of neuronal migration OMIM:158350 PTEN 5728 HP:0000006 Autosomal dominant inheritance OMIM:158350 PTEN 5728 HP:0010516 Thymus hyperplasia OMIM:158350 PTEN 5728 HP:0004481 Progressive macrocephaly OMIM:158350 PTEN 5728 HP:0000541 Retinal detachment OMIM:158350 PTEN 5728 HP:0001140 Epibulbar dermoid OMIM:158350 PTEN 5728 HP:0000268 Dolichocephaly OMIM:158350 PTEN 5728 HP:0003581 Adult onset OMIM:158350 PTEN 5728 HP:0002516 Increased intracranial pressure OMIM:158350 PTEN 5728 HP:0000157 Abnormality of the tongue OMIM:158350 PTEN 5728 HP:0000034 Hydrocele testis OMIM:158350 PTEN 5728 HP:0001031 Subcutaneous lipoma OMIM:158350 PTEN 5728 HP:0001256 Intellectual disability, mild OMIM:158350 PTEN 5728 HP:0200008 Intestinal polyposis OMIM:158350 PTEN 5728 HP:0100646 Thyroiditis OMIM:158350 PTEN 5728 HP:0000221 Furrowed tongue OMIM:158350 PTEN 5728 HP:0000256 Macrocephaly OMIM:158350 PTEN 5728 HP:0003002 Breast carcinoma OMIM:158350 PTEN 5728 HP:0000854 Thyroid adenoma OMIM:158350 PTEN 5728 HP:0001744 Splenomegaly OMIM:158350 PTEN 5728 HP:0000365 Hearing impairment OMIM:158350 PTEN 5728 HP:0006740 Transitional cell carcinoma of the bladder OMIM:158350 PTEN 5728 HP:0000853 Goiter OMIM:158350 PTEN 5728 HP:0100774 Hyperostosis OMIM:158350 PTEN 5728 HP:0012871 Varicocele OMIM:158350 PTEN 5728 HP:0100777 Exostoses OMIM:158350 PTEN 5728 HP:0001012 Multiple lipomas OMIM:158350 PTEN 5728 HP:0002858 Meningioma OMIM:158350 PTEN 5728 HP:0001249 Intellectual disability OMIM:158350 PTEN 5728 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:158350 PTEN 5728 HP:0001626 Abnormality of the cardiovascular system OMIM:158350 PTEN 5728 HP:0000545 Myopia OMIM:158350 PTEN 5728 HP:0000147 Polycystic ovaries OMIM:158350 PTEN 5728 HP:0000771 Gynecomastia OMIM:158350 PTEN 5728 HP:0001334 Communicating hydrocephalus OMIM:158350 PTEN 5728 HP:0001250 Seizures OMIM:158350 PTEN 5728 HP:0002652 Skeletal dysplasia OMIM:158350 PTEN 5728 HP:0000347 Micrognathia OMIM:158350 PTEN 5728 HP:0000767 Pectus excavatum OMIM:158350 PTEN 5728 HP:0001100 Heterochromia iridis OMIM:158350 PTEN 5728 HP:0001102 Angioid streaks of the retina OMIM:158350 PTEN 5728 HP:0002253 Colonic diverticulosis OMIM:158350 PTEN 5728 HP:0002080 Intention tremor OMIM:158350 PTEN 5728 HP:0000836 Hyperthyroidism OMIM:158350 PTEN 5728 HP:0000463 Anteverted nares OMIM:158350 PTEN 5728 HP:0000303 Mandibular prognathia OMIM:158350 PTEN 5728 HP:0002816 Genu recurvatum OMIM:158350 PTEN 5728 HP:0000327 Hypoplasia of the maxilla OMIM:158350 PTEN 5728 HP:0000098 Tall stature OMIM:158350 PTEN 5728 HP:0100559 Lower limb asymmetry OMIM:158350 PTEN 5728 HP:0002076 Migraine OMIM:158350 PTEN 5728 HP:0000689 Dental malocclusion OMIM:158350 PTEN 5728 HP:0002808 Kyphosis OMIM:158350 PTEN 5728 HP:0004390 Hamartomatous polyposis OMIM:158350 PTEN 5728 HP:0000828 Abnormality of the parathyroid gland OMIM:158350 PTEN 5728 HP:0100026 Arteriovenous malformation OMIM:158350 PTEN 5728 HP:0005293 Venous insufficiency OMIM:614039 TUBB3 10381 HP:0003577 Congenital onset OMIM:614039 TUBB3 10381 HP:0008936 Muscular hypotonia of the trunk OMIM:614039 TUBB3 10381 HP:0002079 Hypoplasia of the corpus callosum OMIM:614039 TUBB3 10381 HP:0001257 Spasticity OMIM:614039 TUBB3 10381 HP:0000006 Autosomal dominant inheritance OMIM:614039 TUBB3 10381 HP:0002539 Cortical dysplasia OMIM:614039 TUBB3 10381 HP:0001263 Global developmental delay OMIM:614039 TUBB3 10381 HP:0000252 Microcephaly OMIM:614039 TUBB3 10381 HP:0002365 Hypoplasia of the brainstem OMIM:614039 TUBB3 10381 HP:0001274 Agenesis of corpus callosum OMIM:614039 TUBB3 10381 HP:0001250 Seizures OMIM:614039 TUBB3 10381 HP:0002342 Intellectual disability, moderate OMIM:614039 TUBB3 10381 HP:0002126 Polymicrogyria OMIM:614039 TUBB3 10381 HP:0000639 Nystagmus OMIM:614039 TUBB3 10381 HP:0000486 Strabismus OMIM:314400 FLNA 2316 HP:0001659 Aortic regurgitation OMIM:314400 FLNA 2316 HP:0006692 Short chordae tendineae of the tricuspid valve OMIM:314400 FLNA 2316 HP:0001419 X-linked recessive inheritance OMIM:314400 FLNA 2316 HP:0001653 Mitral regurgitation OMIM:314400 FLNA 2316 HP:0011580 Short chordae tendineae of the mitral valve OMIM:314400 FLNA 2316 HP:0001939 Abnormality of metabolism/homeostasis OMIM:314400 FLNA 2316 HP:0001635 Congestive heart failure OMIM:314400 FLNA 2316 HP:0001634 Mitral valve prolapse OMIM:314400 FLNA 2316 HP:0005180 Tricuspid regurgitation OMIM:223100 MCM6 4175 HP:0004789 Lactose intolerance OMIM:223100 MCM6 4175 HP:0001939 Abnormality of metabolism/homeostasis OMIM:223100 MCM6 4175 HP:0002014 Diarrhea OMIM:223100 MCM6 4175 HP:0000007 Autosomal recessive inheritance OMIM:130600 SPTA1 6708 HP:0001425 Heterogeneous OMIM:130600 SPTA1 6708 HP:0000006 Autosomal dominant inheritance OMIM:130600 SPTA1 6708 HP:0004445 Elliptocytosis OMIM:614321 CAV3 859 HP:0008981 Calf muscle hypertrophy OMIM:614321 CAV3 859 HP:0000467 Neck muscle weakness OMIM:614321 CAV3 859 HP:0001761 Pes cavus OMIM:614321 CAV3 859 HP:0003236 Elevated serum creatine phosphokinase OMIM:614321 CAV3 859 HP:0000006 Autosomal dominant inheritance OMIM:303600 RPS6KA3 6197 HP:0004322 Short stature OMIM:303600 RPS6KA3 6197 HP:0001156 Brachydactyly syndrome OMIM:303600 RPS6KA3 6197 HP:0009882 Short distal phalanx of finger OMIM:303600 RPS6KA3 6197 HP:0100716 Self-injurious behavior OMIM:303600 RPS6KA3 6197 HP:0000189 Narrow palate OMIM:303600 RPS6KA3 6197 HP:0002553 Highly arched eyebrow OMIM:303600 RPS6KA3 6197 HP:0000506 Telecanthus OMIM:303600 RPS6KA3 6197 HP:0000252 Microcephaly OMIM:303600 RPS6KA3 6197 HP:0010049 Short metacarpal OMIM:303600 RPS6KA3 6197 HP:0000194 Open mouth OMIM:303600 RPS6KA3 6197 HP:0001476 Delayed closure of the anterior fontanelle OMIM:303600 RPS6KA3 6197 HP:0000648 Optic atrophy OMIM:303600 RPS6KA3 6197 HP:0000463 Anteverted nares OMIM:303600 RPS6KA3 6197 HP:0001653 Mitral regurgitation OMIM:303600 RPS6KA3 6197 HP:0002104 Apnea OMIM:303600 RPS6KA3 6197 HP:0000668 Hypodontia OMIM:303600 RPS6KA3 6197 HP:0001382 Joint hypermobility OMIM:303600 RPS6KA3 6197 HP:0001276 Hypertonia OMIM:303600 RPS6KA3 6197 HP:0001646 Abnormality of the aortic valve OMIM:303600 RPS6KA3 6197 HP:0002868 Narrow iliac wings OMIM:303600 RPS6KA3 6197 HP:0001798 Anonychia OMIM:303600 RPS6KA3 6197 HP:0002808 Kyphosis OMIM:303600 RPS6KA3 6197 HP:0000232 Everted lower lip vermilion OMIM:303600 RPS6KA3 6197 HP:0009804 Reduced number of teeth OMIM:303600 RPS6KA3 6197 HP:0000411 Protruding ear OMIM:303600 RPS6KA3 6197 HP:0001169 Broad palm OMIM:303600 RPS6KA3 6197 HP:0002269 Abnormality of neuronal migration OMIM:303600 RPS6KA3 6197 HP:0000494 Downslanted palpebral fissures OMIM:303600 RPS6KA3 6197 HP:0000023 Inguinal hernia OMIM:303600 RPS6KA3 6197 HP:0010309 Bifid sternum OMIM:303600 RPS6KA3 6197 HP:0002208 Coarse hair OMIM:303600 RPS6KA3 6197 HP:0000316 Hypertelorism OMIM:303600 RPS6KA3 6197 HP:0001252 Muscular hypotonia OMIM:303600 RPS6KA3 6197 HP:0009746 Thick nasal septum OMIM:303600 RPS6KA3 6197 HP:0000973 Cutis laxa OMIM:303600 RPS6KA3 6197 HP:0000940 Abnormal diaphysis morphology OMIM:303600 RPS6KA3 6197 HP:0002750 Delayed skeletal maturation OMIM:303600 RPS6KA3 6197 HP:0000280 Coarse facial features OMIM:303600 RPS6KA3 6197 HP:0001250 Seizures OMIM:303600 RPS6KA3 6197 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:303600 RPS6KA3 6197 HP:0000286 Epicanthus OMIM:303600 RPS6KA3 6197 HP:0006482 Abnormality of dental morphology OMIM:303600 RPS6KA3 6197 HP:0000768 Pectus carinatum OMIM:303600 RPS6KA3 6197 HP:0002007 Frontal bossing OMIM:303600 RPS6KA3 6197 HP:0000767 Pectus excavatum OMIM:303600 RPS6KA3 6197 HP:0000518 Cataract OMIM:303600 RPS6KA3 6197 HP:0000377 Abnormality of the pinna OMIM:303600 RPS6KA3 6197 HP:0002673 Coxa valga OMIM:303600 RPS6KA3 6197 HP:0001763 Pes planus OMIM:303600 RPS6KA3 6197 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:303600 RPS6KA3 6197 HP:0002167 Neurological speech impairment OMIM:303600 RPS6KA3 6197 HP:0000954 Single transverse palmar crease OMIM:303600 RPS6KA3 6197 HP:0000407 Sensorineural hearing impairment OMIM:303600 RPS6KA3 6197 HP:0000689 Dental malocclusion OMIM:303600 RPS6KA3 6197 HP:0001423 X-linked dominant inheritance OMIM:303600 RPS6KA3 6197 HP:0001182 Tapered finger OMIM:303600 RPS6KA3 6197 HP:0000139 Uterine prolapse OMIM:303600 RPS6KA3 6197 HP:0002120 Cerebral cortical atrophy OMIM:303600 RPS6KA3 6197 HP:0007703 Abnormal retinal pigmentation OMIM:303600 RPS6KA3 6197 HP:0000965 Cutis marmorata OMIM:303600 RPS6KA3 6197 HP:0002650 Scoliosis OMIM:303600 RPS6KA3 6197 HP:0001249 Intellectual disability OMIM:303600 RPS6KA3 6197 HP:0000445 Wide nose OMIM:303600 RPS6KA3 6197 HP:0004325 Decreased body weight OMIM:303600 RPS6KA3 6197 HP:0000684 Delayed eruption of teeth OMIM:303600 RPS6KA3 6197 HP:0002119 Ventriculomegaly OMIM:303600 RPS6KA3 6197 HP:0004493 Craniofacial hyperostosis OMIM:303600 RPS6KA3 6197 HP:0006288 Advanced eruption of teeth OMIM:303600 RPS6KA3 6197 HP:0000574 Thick eyebrow OMIM:303600 RPS6KA3 6197 HP:0006129 Drumstick terminal phalanges OMIM:303600 RPS6KA3 6197 HP:0001812 Hyperconvex fingernails OMIM:303600 RPS6KA3 6197 HP:0000154 Wide mouth OMIM:303600 RPS6KA3 6197 HP:0000687 Widely spaced teeth OMIM:303600 RPS6KA3 6197 HP:0003202 Skeletal muscle atrophy OMIM:303600 RPS6KA3 6197 HP:0001163 Abnormality of the metacarpal bones OMIM:303600 RPS6KA3 6197 HP:0001288 Gait disturbance OMIM:303600 RPS6KA3 6197 HP:0008872 Feeding difficulties in infancy OMIM:303600 RPS6KA3 6197 HP:0001702 Abnormality of the tricuspid valve OMIM:303600 RPS6KA3 6197 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:303600 RPS6KA3 6197 HP:0100543 Cognitive impairment OMIM:303600 RPS6KA3 6197 HP:0001633 Abnormality of the mitral valve OMIM:303600 RPS6KA3 6197 HP:0003312 Abnormal form of the vertebral bodies OMIM:303600 RPS6KA3 6197 HP:0000174 Abnormality of the palate OMIM:303600 RPS6KA3 6197 HP:0000179 Thick lower lip vermilion OMIM:303600 RPS6KA3 6197 HP:0008454 Lumbar kyphosis OMIM:303600 RPS6KA3 6197 HP:0001187 Hyperextensibility of the finger joints OMIM:303600 RPS6KA3 6197 HP:0002684 Thickened calvaria OMIM:303600 RPS6KA3 6197 HP:0000218 High palate OMIM:303600 RPS6KA3 6197 HP:0001176 Large hands OMIM:303600 RPS6KA3 6197 HP:0002035 Rectal prolapse OMIM:303600 RPS6KA3 6197 HP:0000498 Blepharitis OMIM:303600 RPS6KA3 6197 HP:0001324 Muscle weakness OMIM:303600 RPS6KA3 6197 HP:0005280 Depressed nasal bridge OMIM:303600 RPS6KA3 6197 HP:0000303 Mandibular prognathia OMIM:244460 TBCE 6905 HP:0006645 Thin clavicles OMIM:244460 TBCE 6905 HP:0005450 Calvarial osteosclerosis OMIM:244460 TBCE 6905 HP:0001281 Tetany OMIM:244460 TBCE 6905 HP:0002901 Hypocalcemia OMIM:244460 TBCE 6905 HP:0000316 Hypertelorism OMIM:244460 TBCE 6905 HP:0200055 Small hand OMIM:244460 TBCE 6905 HP:0001773 Short foot OMIM:244460 TBCE 6905 HP:0002750 Delayed skeletal maturation OMIM:244460 TBCE 6905 HP:0000670 Carious teeth OMIM:244460 TBCE 6905 HP:0001250 Seizures OMIM:244460 TBCE 6905 HP:0008198 Congenital hypoparathyroidism OMIM:244460 TBCE 6905 HP:0003561 Birth length less than 3rd percentile OMIM:244460 TBCE 6905 HP:0002917 Hypomagnesemia OMIM:244460 TBCE 6905 HP:0004331 Decreased skull ossification OMIM:244460 TBCE 6905 HP:0000890 Long clavicles OMIM:244460 TBCE 6905 HP:0001511 Intrauterine growth retardation OMIM:244460 TBCE 6905 HP:0000883 Thin ribs OMIM:244460 TBCE 6905 HP:0001903 Anemia OMIM:244460 TBCE 6905 HP:0000007 Autosomal recessive inheritance OMIM:244460 TBCE 6905 HP:0002718 Recurrent bacterial infections OMIM:244460 TBCE 6905 HP:0004279 Short palm OMIM:244460 TBCE 6905 HP:0003100 Slender long bone OMIM:244460 TBCE 6905 HP:0001476 Delayed closure of the anterior fontanelle OMIM:244460 TBCE 6905 HP:0003508 Proportionate short stature OMIM:615565 NEK2 4751 HP:0000510 Retinitis pigmentosa OMIM:615565 NEK2 4751 HP:0000007 Autosomal recessive inheritance OMIM:614895 PRX 57716 HP:0002355 Difficulty walking OMIM:614895 PRX 57716 HP:0001284 Areflexia OMIM:614895 PRX 57716 HP:0002936 Distal sensory impairment OMIM:614895 PRX 57716 HP:0003690 Limb muscle weakness OMIM:614895 PRX 57716 HP:0000007 Autosomal recessive inheritance OMIM:614895 PRX 57716 HP:0001604 Vocal cord paresis OMIM:614895 PRX 57716 HP:0003677 Slow progression OMIM:614895 PRX 57716 HP:0003202 Skeletal muscle atrophy OMIM:614895 PRX 57716 HP:0010871 Sensory ataxia OMIM:614895 PRX 57716 HP:0002650 Scoliosis OMIM:614895 PRX 57716 HP:0003387 Decreased number of large peripheral myelinated nerve fibers OMIM:614895 PRX 57716 HP:0001270 Motor delay OMIM:614895 PRX 57716 HP:0011096 Peripheral demyelination OMIM:614895 PRX 57716 HP:0001761 Pes cavus OMIM:614895 PRX 57716 HP:0003400 Basal lamina 'onion bulb' formation OMIM:614895 PRX 57716 HP:0003431 Decreased motor nerve conduction velocity OMIM:615346 MKRN3 7681 HP:0010314 Premature thelarche OMIM:615346 MKRN3 7681 HP:0005616 Accelerated skeletal maturation OMIM:615346 MKRN3 7681 HP:0000006 Autosomal dominant inheritance OMIM:607812 SEC23A 10484 HP:0008808 High iliac wings OMIM:607812 SEC23A 10484 HP:0001388 Joint laxity OMIM:607812 SEC23A 10484 HP:0010695 Sutural cataract OMIM:607812 SEC23A 10484 HP:0000426 Prominent nasal bridge OMIM:607812 SEC23A 10484 HP:0008444 Posterior wedging of vertebral bodies OMIM:607812 SEC23A 10484 HP:0000272 Malar flattening OMIM:607812 SEC23A 10484 HP:0000518 Cataract OMIM:607812 SEC23A 10484 HP:0007648 Punctate cataract OMIM:607812 SEC23A 10484 HP:0002167 Neurological speech impairment OMIM:607812 SEC23A 10484 HP:0002020 Gastroesophageal reflux OMIM:607812 SEC23A 10484 HP:0000260 Wide anterior fontanel OMIM:607812 SEC23A 10484 HP:0000175 Cleft palate OMIM:607812 SEC23A 10484 HP:0000233 Thin vermilion border OMIM:607812 SEC23A 10484 HP:0000684 Delayed eruption of teeth OMIM:607812 SEC23A 10484 HP:0000343 Long philtrum OMIM:607812 SEC23A 10484 HP:0000193 Bifid uvula OMIM:607812 SEC23A 10484 HP:0002007 Frontal bossing OMIM:607812 SEC23A 10484 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:607812 SEC23A 10484 HP:0000028 Cryptorchidism OMIM:607812 SEC23A 10484 HP:0000256 Macrocephaly OMIM:607812 SEC23A 10484 HP:0000774 Narrow chest OMIM:607812 SEC23A 10484 HP:0000670 Carious teeth OMIM:607812 SEC23A 10484 HP:0008070 Sparse hair OMIM:607812 SEC23A 10484 HP:0000431 Wide nasal bridge OMIM:607812 SEC23A 10484 HP:0000463 Anteverted nares OMIM:607812 SEC23A 10484 HP:0003043 Abnormality of the shoulder OMIM:607812 SEC23A 10484 HP:0001763 Pes planus OMIM:607812 SEC23A 10484 HP:0000685 Hypoplasia of teeth OMIM:607812 SEC23A 10484 HP:0000174 Abnormality of the palate OMIM:607812 SEC23A 10484 HP:0002208 Coarse hair OMIM:607812 SEC23A 10484 HP:0005336 Forehead hyperpigmentation OMIM:607812 SEC23A 10484 HP:0002868 Narrow iliac wings OMIM:607812 SEC23A 10484 HP:0001382 Joint hypermobility OMIM:607812 SEC23A 10484 HP:0001476 Delayed closure of the anterior fontanelle OMIM:607812 SEC23A 10484 HP:0000154 Wide mouth OMIM:607812 SEC23A 10484 HP:0004322 Short stature OMIM:607812 SEC23A 10484 HP:0000938 Osteopenia OMIM:607812 SEC23A 10484 HP:0000691 Microdontia OMIM:607812 SEC23A 10484 HP:0000336 Prominent supraorbital ridges OMIM:607812 SEC23A 10484 HP:0000565 Esotropia OMIM:607812 SEC23A 10484 HP:0001000 Abnormality of skin pigmentation OMIM:607812 SEC23A 10484 HP:0002650 Scoliosis OMIM:607812 SEC23A 10484 HP:0003312 Abnormal form of the vertebral bodies OMIM:607812 SEC23A 10484 HP:0005306 Capillary hemangiomas OMIM:607812 SEC23A 10484 HP:0000319 Smooth philtrum OMIM:607812 SEC23A 10484 HP:0002299 Brittle hair OMIM:607812 SEC23A 10484 HP:0004331 Decreased skull ossification OMIM:607812 SEC23A 10484 HP:0011800 Midface retrusion OMIM:607812 SEC23A 10484 HP:0009804 Reduced number of teeth OMIM:607812 SEC23A 10484 HP:0011362 Abnormal hair quantity OMIM:607812 SEC23A 10484 HP:0000316 Hypertelorism OMIM:607812 SEC23A 10484 HP:0000219 Thin upper lip vermilion OMIM:607812 SEC23A 10484 HP:0000007 Autosomal recessive inheritance OMIM:615072 GDF5 8200 HP:0000007 Autosomal recessive inheritance OMIM:615072 GDF5 8200 HP:0001156 Brachydactyly syndrome OMIM:217300 KERA 11081 HP:0000007 Autosomal recessive inheritance OMIM:217300 KERA 11081 HP:0007720 Flat cornea OMIM:217300 KERA 11081 HP:0000540 Hypermetropia OMIM:217300 KERA 11081 HP:0001084 Corneal arcus OMIM:217300 KERA 11081 HP:0100689 Decreased corneal thickness OMIM:113300 HOXD13 3239 HP:0010743 Short metatarsal OMIM:113300 HOXD13 3239 HP:0001156 Brachydactyly syndrome OMIM:113300 HOXD13 3239 HP:0008848 Moderately short stature OMIM:113300 HOXD13 3239 HP:0005863 Type E brachydactyly OMIM:113300 HOXD13 3239 HP:0000006 Autosomal dominant inheritance OMIM:113300 HOXD13 3239 HP:0001571 Multiple impacted teeth OMIM:113300 HOXD13 3239 HP:0010049 Short metacarpal OMIM:113300 HOXD13 3239 HP:0000311 Round face OMIM:113300 HOXD13 3239 HP:0006587 Straight clavicles OMIM:113300 HOXD13 3239 HP:0000894 Short clavicles OMIM:607831 GDAP1 54332 HP:0001171 Split hand OMIM:607831 GDAP1 54332 HP:0003431 Decreased motor nerve conduction velocity OMIM:607831 GDAP1 54332 HP:0002936 Distal sensory impairment OMIM:607831 GDAP1 54332 HP:0001284 Areflexia OMIM:607831 GDAP1 54332 HP:0002751 Kyphoscoliosis OMIM:607831 GDAP1 54332 HP:0000007 Autosomal recessive inheritance OMIM:607831 GDAP1 54332 HP:0000006 Autosomal dominant inheritance OMIM:607831 GDAP1 54332 HP:0002460 Distal muscle weakness OMIM:607831 GDAP1 54332 HP:0003693 Distal amyotrophy OMIM:607831 GDAP1 54332 HP:0003701 Proximal muscle weakness OMIM:607831 GDAP1 54332 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:607831 GDAP1 54332 HP:0003593 Infantile onset OMIM:607831 GDAP1 54332 HP:0003450 Axonal regeneration OMIM:607831 GDAP1 54332 HP:0001762 Talipes equinovarus OMIM:613710 SLC25A19 60386 HP:0003477 Peripheral axonal neuropathy OMIM:613710 SLC25A19 60386 HP:0001265 Hyporeflexia OMIM:613710 SLC25A19 60386 HP:0001271 Polyneuropathy OMIM:613710 SLC25A19 60386 HP:0001324 Muscle weakness OMIM:613710 SLC25A19 60386 HP:0003202 Skeletal muscle atrophy OMIM:613710 SLC25A19 60386 HP:0005750 Contractures of the joints of the lower limbs OMIM:613710 SLC25A19 60386 HP:0001762 Talipes equinovarus OMIM:613710 SLC25A19 60386 HP:0000007 Autosomal recessive inheritance OMIM:613710 SLC25A19 60386 HP:0003470 Paralysis OMIM:613710 SLC25A19 60386 HP:0002490 Increased CSF lactate OMIM:613710 SLC25A19 60386 HP:0001254 Lethargy OMIM:613710 SLC25A19 60386 HP:0002355 Difficulty walking OMIM:608895 FBLN5 10516 HP:0011510 Drusen OMIM:608895 FBLN5 10516 HP:0000608 Macular degeneration OMIM:608895 FBLN5 10516 HP:0011506 Choroidal neovascularization of the macula OMIM:180860 H19 283120 HP:0000347 Micrognathia OMIM:180860 H19 283120 HP:0004227 Short distal phalanx of the 5th finger OMIM:180860 H19 283120 HP:0005461 Craniofacial disproportion OMIM:180860 H19 283120 HP:0010957 Congenital posterior urethral valve OMIM:180860 H19 283120 HP:0001518 Small for gestational age OMIM:180860 H19 283120 HP:0002750 Delayed skeletal maturation OMIM:180860 H19 283120 HP:0004209 Clinodactyly of the 5th finger OMIM:180860 H19 283120 HP:0003745 Sporadic OMIM:180860 H19 283120 HP:0000957 Cafe-au-lait spot OMIM:180860 H19 283120 HP:0003162 Fasting hypoglycemia OMIM:180860 H19 283120 HP:0002007 Frontal bossing OMIM:180860 H19 283120 HP:0030062 Craniopharyngioma OMIM:180860 H19 283120 HP:0001159 Syndactyly OMIM:180860 H19 283120 HP:0001263 Global developmental delay OMIM:180860 H19 283120 HP:0000069 Abnormality of the ureter OMIM:180860 H19 283120 HP:0002714 Downturned corners of mouth OMIM:180860 H19 283120 HP:0001760 Abnormality of the foot OMIM:180860 H19 283120 HP:0100617 Testicular seminoma OMIM:180860 H19 283120 HP:0001511 Intrauterine growth retardation OMIM:180860 H19 283120 HP:0004220 Short middle phalanx of the 5th finger OMIM:180860 H19 283120 HP:0001626 Abnormality of the cardiovascular system OMIM:180860 H19 283120 HP:0000824 Growth hormone deficiency OMIM:180860 H19 283120 HP:0000270 Delayed cranial suture closure OMIM:180860 H19 283120 HP:0002667 Nephroblastoma (Wilms tumor) OMIM:180860 H19 283120 HP:0000047 Hypospadias OMIM:180860 H19 283120 HP:0000325 Triangular face OMIM:180860 H19 283120 HP:0001402 Hepatocellular carcinoma OMIM:180860 H19 283120 HP:0000592 Blue sclerae OMIM:140350 HPD 3242 HP:0001942 Metabolic acidosis OMIM:140350 HPD 3242 HP:0000821 Hypothyroidism OMIM:140350 HPD 3242 HP:0001252 Muscular hypotonia OMIM:140350 HPD 3242 HP:0002213 Fine hair OMIM:140350 HPD 3242 HP:0003607 4-Hydroxyphenylacetic aciduria OMIM:140350 HPD 3242 HP:0003231 Hypertyrosinemia OMIM:140350 HPD 3242 HP:0000006 Autosomal dominant inheritance OMIM:140350 HPD 3242 HP:0011362 Abnormal hair quantity OMIM:140350 HPD 3242 HP:0003161 4-Hydroxyphenylpyruvic aciduria OMIM:140350 HPD 3242 HP:0001508 Failure to thrive OMIM:600969 COL9A3 1299 HP:0003701 Proximal muscle weakness OMIM:600969 COL9A3 1299 HP:0010585 Small epiphyses OMIM:600969 COL9A3 1299 HP:0002758 Osteoarthritis OMIM:600969 COL9A3 1299 HP:0000006 Autosomal dominant inheritance OMIM:600969 COL9A3 1299 HP:0010582 Irregular epiphyses OMIM:600969 COL9A3 1299 HP:0003502 Mild short stature OMIM:600969 COL9A3 1299 HP:0002663 Delayed epiphyseal ossification OMIM:600969 COL9A3 1299 HP:0002656 Epiphyseal dysplasia OMIM:600969 COL9A3 1299 HP:0010049 Short metacarpal OMIM:600969 COL9A3 1299 HP:0001384 Abnormality of the hip joint OMIM:600969 COL9A3 1299 HP:0003236 Elevated serum creatine phosphokinase OMIM:606996 NPHP4 261734 HP:0000510 Retinitis pigmentosa OMIM:606996 NPHP4 261734 HP:0003774 Stage 5 chronic kidney disease OMIM:606996 NPHP4 261734 HP:0000007 Autosomal recessive inheritance OMIM:606996 NPHP4 261734 HP:0000103 Polyuria OMIM:606996 NPHP4 261734 HP:0001959 Polydipsia OMIM:606996 NPHP4 261734 HP:0001903 Anemia OMIM:606996 NPHP4 261734 HP:0001583 Rotary nystagmus OMIM:606996 NPHP4 261734 HP:0000646 Amblyopia OMIM:606996 NPHP4 261734 HP:0000090 Nephronophthisis OMIM:606996 NPHP4 261734 HP:0001141 Severe visual impairment OMIM:614073 HPS4 89781 HP:0001107 Ocular albinism OMIM:614073 HPS4 89781 HP:0000007 Autosomal recessive inheritance OMIM:614073 HPS4 89781 HP:0001022 Albinism OMIM:614073 HPS4 89781 HP:0002206 Pulmonary fibrosis OMIM:614073 HPS4 89781 HP:0011883 Abnormal platelet granules OMIM:613912 CFD 1675 HP:0003828 Variable expressivity OMIM:613912 CFD 1675 HP:0002718 Recurrent bacterial infections OMIM:613912 CFD 1675 HP:0004431 Complement deficiency OMIM:613912 CFD 1675 HP:0000007 Autosomal recessive inheritance OMIM:611087 STRADA 92335 HP:0000007 Autosomal recessive inheritance OMIM:611087 STRADA 92335 HP:0000121 Nephrocalcinosis OMIM:611087 STRADA 92335 HP:0000431 Wide nasal bridge OMIM:611087 STRADA 92335 HP:0001622 Premature birth OMIM:611087 STRADA 92335 HP:0002003 Large forehead OMIM:611087 STRADA 92335 HP:0000215 Thick upper lip vermilion OMIM:611087 STRADA 92335 HP:0000154 Wide mouth OMIM:611087 STRADA 92335 HP:0000256 Macrocephaly OMIM:611087 STRADA 92335 HP:0001263 Global developmental delay OMIM:611087 STRADA 92335 HP:0001631 Defect in the atrial septum OMIM:611087 STRADA 92335 HP:0000316 Hypertelorism OMIM:611087 STRADA 92335 HP:0000179 Thick lower lip vermilion OMIM:611087 STRADA 92335 HP:0001252 Muscular hypotonia OMIM:611087 STRADA 92335 HP:0000276 Long face OMIM:611087 STRADA 92335 HP:0001561 Polyhydramnios OMIM:611087 STRADA 92335 HP:0012371 Midface prominence OMIM:611087 STRADA 92335 HP:0000873 Diabetes insipidus OMIM:610250 REEP1 65055 HP:0002936 Distal sensory impairment OMIM:610250 REEP1 65055 HP:0002064 Spastic gait OMIM:610250 REEP1 65055 HP:0001260 Dysarthria OMIM:610250 REEP1 65055 HP:0003487 Babinski sign OMIM:610250 REEP1 65055 HP:0011448 Ankle clonus OMIM:610250 REEP1 65055 HP:0000012 Urinary urgency OMIM:610250 REEP1 65055 HP:0007340 Lower limb muscle weakness OMIM:610250 REEP1 65055 HP:0001761 Pes cavus OMIM:610250 REEP1 65055 HP:0000006 Autosomal dominant inheritance OMIM:610250 REEP1 65055 HP:0003828 Variable expressivity OMIM:610250 REEP1 65055 HP:0002015 Dysphagia OMIM:610250 REEP1 65055 HP:0001258 Spastic paraplegia OMIM:610250 REEP1 65055 HP:0003202 Skeletal muscle atrophy OMIM:608265 HGF 3082 HP:0000399 Prelingual sensorineural hearing impairment OMIM:608265 HGF 3082 HP:0000007 Autosomal recessive inheritance OMIM:101400 TWIST1 7291 HP:0002650 Scoliosis OMIM:101400 TWIST1 7291 HP:0002564 Malformation of the heart and great vessels OMIM:101400 TWIST1 7291 HP:0000369 Low-set ears OMIM:101400 TWIST1 7291 HP:0000508 Ptosis OMIM:101400 TWIST1 7291 HP:0008551 Microtia OMIM:101400 TWIST1 7291 HP:0004322 Short stature OMIM:101400 TWIST1 7291 HP:0011323 Cleft of chin OMIM:101400 TWIST1 7291 HP:0000316 Hypertelorism OMIM:101400 TWIST1 7291 HP:0000648 Optic atrophy OMIM:101400 TWIST1 7291 HP:0000586 Shallow orbits OMIM:101400 TWIST1 7291 HP:0000294 Low anterior hairline OMIM:101400 TWIST1 7291 HP:0002974 Radioulnar synostosis OMIM:101400 TWIST1 7291 HP:0000175 Cleft palate OMIM:101400 TWIST1 7291 HP:0100543 Cognitive impairment OMIM:101400 TWIST1 7291 HP:0000954 Single transverse palmar crease OMIM:101400 TWIST1 7291 HP:0004443 Lambdoidal craniosynostosis OMIM:101400 TWIST1 7291 HP:0001357 Plagiocephaly OMIM:101400 TWIST1 7291 HP:0000407 Sensorineural hearing impairment OMIM:101400 TWIST1 7291 HP:0000365 Hearing impairment OMIM:101400 TWIST1 7291 HP:0000189 Narrow palate OMIM:101400 TWIST1 7291 HP:0010104 Absent first metatarsal OMIM:101400 TWIST1 7291 HP:0000413 Atresia of the external auditory canal OMIM:101400 TWIST1 7291 HP:0012368 Flat face OMIM:101400 TWIST1 7291 HP:0002076 Migraine OMIM:101400 TWIST1 7291 HP:0000557 Buphthalmos OMIM:101400 TWIST1 7291 HP:0000272 Malar flattening OMIM:101400 TWIST1 7291 HP:0004440 Coronal craniosynostosis OMIM:101400 TWIST1 7291 HP:0006101 Finger syndactyly OMIM:101400 TWIST1 7291 HP:0000270 Delayed cranial suture closure OMIM:101400 TWIST1 7291 HP:0004209 Clinodactyly of the 5th finger OMIM:101400 TWIST1 7291 HP:0000444 Convex nasal ridge OMIM:101400 TWIST1 7291 HP:0000614 Abnormality of the nasolacrimal system OMIM:101400 TWIST1 7291 HP:0003828 Variable expressivity OMIM:101400 TWIST1 7291 HP:0009899 Prominent crus of helix OMIM:101400 TWIST1 7291 HP:0000486 Strabismus OMIM:101400 TWIST1 7291 HP:0002104 Apnea OMIM:101400 TWIST1 7291 HP:0004425 Flat forehead OMIM:101400 TWIST1 7291 HP:0003189 Long nose OMIM:101400 TWIST1 7291 HP:0001822 Hallux valgus OMIM:101400 TWIST1 7291 HP:0001156 Brachydactyly syndrome OMIM:101400 TWIST1 7291 HP:0001250 Seizures OMIM:101400 TWIST1 7291 HP:0002678 Skull asymmetry OMIM:101400 TWIST1 7291 HP:0001363 Craniosynostosis OMIM:101400 TWIST1 7291 HP:0000368 Low-set, posteriorly rotated ears OMIM:101400 TWIST1 7291 HP:0002697 Parietal foramina OMIM:101400 TWIST1 7291 HP:0000405 Conductive hearing impairment OMIM:101400 TWIST1 7291 HP:0000460 Narrow nose OMIM:101400 TWIST1 7291 HP:0000505 Visual impairment OMIM:101400 TWIST1 7291 HP:0003312 Abnormal form of the vertebral bodies OMIM:101400 TWIST1 7291 HP:0000324 Facial asymmetry OMIM:101400 TWIST1 7291 HP:0000263 Oxycephaly OMIM:101400 TWIST1 7291 HP:0001770 Toe syndactyly OMIM:101400 TWIST1 7291 HP:0000028 Cryptorchidism OMIM:101400 TWIST1 7291 HP:0009968 Partial duplication of the distal phalanx of the 3rd finger OMIM:101400 TWIST1 7291 HP:0000248 Brachycephaly OMIM:101400 TWIST1 7291 HP:0000327 Hypoplasia of the maxilla OMIM:101400 TWIST1 7291 HP:0000348 High forehead OMIM:101400 TWIST1 7291 HP:0002342 Intellectual disability, moderate OMIM:101400 TWIST1 7291 HP:0009951 Partial duplication of the distal phalanx of the 2nd finger OMIM:101400 TWIST1 7291 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:101400 TWIST1 7291 HP:0000006 Autosomal dominant inheritance OMIM:101400 TWIST1 7291 HP:0002516 Increased intracranial pressure OMIM:101400 TWIST1 7291 HP:0008572 External ear malformation OMIM:101400 TWIST1 7291 HP:0003002 Breast carcinoma OMIM:101400 FGFR2 2263 HP:0002650 Scoliosis OMIM:101400 FGFR2 2263 HP:0002564 Malformation of the heart and great vessels OMIM:101400 FGFR2 2263 HP:0000369 Low-set ears OMIM:101400 FGFR2 2263 HP:0000508 Ptosis OMIM:101400 FGFR2 2263 HP:0008551 Microtia OMIM:101400 FGFR2 2263 HP:0004322 Short stature OMIM:101400 FGFR2 2263 HP:0011323 Cleft of chin OMIM:101400 FGFR2 2263 HP:0000316 Hypertelorism OMIM:101400 FGFR2 2263 HP:0000648 Optic atrophy OMIM:101400 FGFR2 2263 HP:0000586 Shallow orbits OMIM:101400 FGFR2 2263 HP:0000294 Low anterior hairline OMIM:101400 FGFR2 2263 HP:0002974 Radioulnar synostosis OMIM:101400 FGFR2 2263 HP:0000175 Cleft palate OMIM:101400 FGFR2 2263 HP:0100543 Cognitive impairment OMIM:101400 FGFR2 2263 HP:0000954 Single transverse palmar crease OMIM:101400 FGFR2 2263 HP:0004443 Lambdoidal craniosynostosis OMIM:101400 FGFR2 2263 HP:0001357 Plagiocephaly OMIM:101400 FGFR2 2263 HP:0000407 Sensorineural hearing impairment OMIM:101400 FGFR2 2263 HP:0000365 Hearing impairment OMIM:101400 FGFR2 2263 HP:0000189 Narrow palate OMIM:101400 FGFR2 2263 HP:0010104 Absent first metatarsal OMIM:101400 FGFR2 2263 HP:0000413 Atresia of the external auditory canal OMIM:101400 FGFR2 2263 HP:0012368 Flat face OMIM:101400 FGFR2 2263 HP:0002076 Migraine OMIM:101400 FGFR2 2263 HP:0000557 Buphthalmos OMIM:101400 FGFR2 2263 HP:0000272 Malar flattening OMIM:101400 FGFR2 2263 HP:0004440 Coronal craniosynostosis OMIM:101400 FGFR2 2263 HP:0006101 Finger syndactyly OMIM:101400 FGFR2 2263 HP:0000270 Delayed cranial suture closure OMIM:101400 FGFR2 2263 HP:0004209 Clinodactyly of the 5th finger OMIM:101400 FGFR2 2263 HP:0000444 Convex nasal ridge OMIM:101400 FGFR2 2263 HP:0000614 Abnormality of the nasolacrimal system OMIM:101400 FGFR2 2263 HP:0003828 Variable expressivity OMIM:101400 FGFR2 2263 HP:0009899 Prominent crus of helix OMIM:101400 FGFR2 2263 HP:0000486 Strabismus OMIM:101400 FGFR2 2263 HP:0002104 Apnea OMIM:101400 FGFR2 2263 HP:0004425 Flat forehead OMIM:101400 FGFR2 2263 HP:0003189 Long nose OMIM:101400 FGFR2 2263 HP:0001822 Hallux valgus OMIM:101400 FGFR2 2263 HP:0001156 Brachydactyly syndrome OMIM:101400 FGFR2 2263 HP:0001250 Seizures OMIM:101400 FGFR2 2263 HP:0002678 Skull asymmetry OMIM:101400 FGFR2 2263 HP:0001363 Craniosynostosis OMIM:101400 FGFR2 2263 HP:0000368 Low-set, posteriorly rotated ears OMIM:101400 FGFR2 2263 HP:0002697 Parietal foramina OMIM:101400 FGFR2 2263 HP:0000405 Conductive hearing impairment OMIM:101400 FGFR2 2263 HP:0000460 Narrow nose OMIM:101400 FGFR2 2263 HP:0000505 Visual impairment OMIM:101400 FGFR2 2263 HP:0003312 Abnormal form of the vertebral bodies OMIM:101400 FGFR2 2263 HP:0000324 Facial asymmetry OMIM:101400 FGFR2 2263 HP:0000263 Oxycephaly OMIM:101400 FGFR2 2263 HP:0001770 Toe syndactyly OMIM:101400 FGFR2 2263 HP:0000028 Cryptorchidism OMIM:101400 FGFR2 2263 HP:0009968 Partial duplication of the distal phalanx of the 3rd finger OMIM:101400 FGFR2 2263 HP:0000248 Brachycephaly OMIM:101400 FGFR2 2263 HP:0000327 Hypoplasia of the maxilla OMIM:101400 FGFR2 2263 HP:0000348 High forehead OMIM:101400 FGFR2 2263 HP:0002342 Intellectual disability, moderate OMIM:101400 FGFR2 2263 HP:0009951 Partial duplication of the distal phalanx of the 2nd finger OMIM:101400 FGFR2 2263 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:101400 FGFR2 2263 HP:0000006 Autosomal dominant inheritance OMIM:101400 FGFR2 2263 HP:0002516 Increased intracranial pressure OMIM:101400 FGFR2 2263 HP:0008572 External ear malformation OMIM:101400 FGFR2 2263 HP:0003002 Breast carcinoma OMIM:613102 DSC3 1825 HP:0200102 Sparse or absent eyelashes OMIM:613102 DSC3 1825 HP:0200037 Skin vesicle OMIM:613102 DSC3 1825 HP:0002215 Sparse axillary hair OMIM:613102 DSC3 1825 HP:0002209 Sparse scalp hair OMIM:613102 DSC3 1825 HP:0001006 Hypotrichosis OMIM:613102 DSC3 1825 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:613102 DSC3 1825 HP:0000007 Autosomal recessive inheritance ORPHANET:950 PDE4D 5144 HP:0000303 Mandibular prognathia ORPHANET:950 PDE4D 5144 HP:0000365 Hearing impairment ORPHANET:950 PDE4D 5144 HP:0002983 Micromelia ORPHANET:950 PDE4D 5144 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:950 PDE4D 5144 HP:0003416 Spinal canal stenosis ORPHANET:950 PDE4D 5144 HP:0000689 Dental malocclusion ORPHANET:950 PDE4D 5144 HP:0000028 Cryptorchidism ORPHANET:950 PDE4D 5144 HP:0002648 Abnormality of calvarial morphology ORPHANET:950 PDE4D 5144 HP:0001831 Short toe ORPHANET:950 PDE4D 5144 HP:0002997 Abnormality of the ulna ORPHANET:950 PDE4D 5144 HP:0004322 Short stature ORPHANET:950 PDE4D 5144 HP:0000055 Abnormality of female external genitalia ORPHANET:950 PDE4D 5144 HP:0009924 Aplasia/Hypoplasia involving the nose ORPHANET:950 PDE4D 5144 HP:0000463 Anteverted nares ORPHANET:950 PDE4D 5144 HP:0100543 Cognitive impairment ORPHANET:950 PDE4D 5144 HP:0005616 Accelerated skeletal maturation ORPHANET:950 PDE4D 5144 HP:0000457 Depressed nasal ridge ORPHANET:950 PDE4D 5144 HP:0000316 Hypertelorism ORPHANET:950 PDE4D 5144 HP:0009830 Peripheral neuropathy ORPHANET:950 PDE4D 5144 HP:0001163 Abnormality of the metacarpal bones ORPHANET:950 PDE4D 5144 HP:0010978 Abnormality of immune system physiology ORPHANET:950 PDE4D 5144 HP:0000286 Epicanthus ORPHANET:950 PDE4D 5144 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:950 PDE4D 5144 HP:0000684 Delayed eruption of teeth ORPHANET:950 PDE4D 5144 HP:0005280 Depressed nasal bridge ORPHANET:950 PDE4D 5144 HP:0001597 Abnormality of the nail ORPHANET:950 PDE4D 5144 HP:0000272 Malar flattening ORPHANET:950 PDE4D 5144 HP:0000995 Melanocytic nevus ORPHANET:950 PDE4D 5144 HP:0001156 Brachydactyly syndrome ORPHANET:950 PDE4D 5144 HP:0000194 Open mouth ORPHANET:950 PDE4D 5144 HP:0003196 Short nose ORPHANET:950 PDE4D 5144 HP:0010579 Cone-shaped epiphysis ORPHANET:950 PRKAR1A 5573 HP:0000303 Mandibular prognathia ORPHANET:950 PRKAR1A 5573 HP:0000365 Hearing impairment ORPHANET:950 PRKAR1A 5573 HP:0002983 Micromelia ORPHANET:950 PRKAR1A 5573 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:950 PRKAR1A 5573 HP:0003416 Spinal canal stenosis ORPHANET:950 PRKAR1A 5573 HP:0000689 Dental malocclusion ORPHANET:950 PRKAR1A 5573 HP:0000028 Cryptorchidism ORPHANET:950 PRKAR1A 5573 HP:0002648 Abnormality of calvarial morphology ORPHANET:950 PRKAR1A 5573 HP:0001831 Short toe ORPHANET:950 PRKAR1A 5573 HP:0002997 Abnormality of the ulna ORPHANET:950 PRKAR1A 5573 HP:0004322 Short stature ORPHANET:950 PRKAR1A 5573 HP:0000055 Abnormality of female external genitalia ORPHANET:950 PRKAR1A 5573 HP:0009924 Aplasia/Hypoplasia involving the nose ORPHANET:950 PRKAR1A 5573 HP:0000463 Anteverted nares ORPHANET:950 PRKAR1A 5573 HP:0100543 Cognitive impairment ORPHANET:950 PRKAR1A 5573 HP:0005616 Accelerated skeletal maturation ORPHANET:950 PRKAR1A 5573 HP:0000457 Depressed nasal ridge ORPHANET:950 PRKAR1A 5573 HP:0000316 Hypertelorism ORPHANET:950 PRKAR1A 5573 HP:0009830 Peripheral neuropathy ORPHANET:950 PRKAR1A 5573 HP:0001163 Abnormality of the metacarpal bones ORPHANET:950 PRKAR1A 5573 HP:0010978 Abnormality of immune system physiology ORPHANET:950 PRKAR1A 5573 HP:0000286 Epicanthus ORPHANET:950 PRKAR1A 5573 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:950 PRKAR1A 5573 HP:0000684 Delayed eruption of teeth ORPHANET:950 PRKAR1A 5573 HP:0005280 Depressed nasal bridge ORPHANET:950 PRKAR1A 5573 HP:0001597 Abnormality of the nail ORPHANET:950 PRKAR1A 5573 HP:0000272 Malar flattening ORPHANET:950 PRKAR1A 5573 HP:0000995 Melanocytic nevus ORPHANET:950 PRKAR1A 5573 HP:0001156 Brachydactyly syndrome ORPHANET:950 PRKAR1A 5573 HP:0000194 Open mouth ORPHANET:950 PRKAR1A 5573 HP:0003196 Short nose ORPHANET:950 PRKAR1A 5573 HP:0010579 Cone-shaped epiphysis OMIM:612422 TNNT2 7139 HP:0001638 Cardiomyopathy OMIM:612422 TNNT2 7139 HP:0000006 Autosomal dominant inheritance OMIM:190351 TRPS1 7227 HP:0001773 Short foot OMIM:190351 TRPS1 7227 HP:0000319 Smooth philtrum OMIM:190351 TRPS1 7227 HP:0004322 Short stature OMIM:190351 TRPS1 7227 HP:0010743 Short metatarsal OMIM:190351 TRPS1 7227 HP:0003279 Coxa magna OMIM:190351 TRPS1 7227 HP:0004279 Short palm OMIM:190351 TRPS1 7227 HP:0000219 Thin upper lip vermilion OMIM:190351 TRPS1 7227 HP:0002805 Accelerated bone age after puberty OMIM:190351 TRPS1 7227 HP:0002650 Scoliosis OMIM:190351 TRPS1 7227 HP:0005743 Avascular necrosis of the capital femoral epiphysis OMIM:190351 TRPS1 7227 HP:0000938 Osteopenia OMIM:190351 TRPS1 7227 HP:0000447 Pear-shaped nose OMIM:190351 TRPS1 7227 HP:0000006 Autosomal dominant inheritance OMIM:190351 TRPS1 7227 HP:0010049 Short metacarpal OMIM:190351 TRPS1 7227 HP:0011069 Increased number of teeth OMIM:190351 TRPS1 7227 HP:0000707 Abnormality of the nervous system OMIM:190351 TRPS1 7227 HP:0008070 Sparse hair OMIM:190351 TRPS1 7227 HP:0010259 Cone-shaped epiphyses of the middle phalanges of the hand OMIM:190351 TRPS1 7227 HP:0000411 Protruding ear OMIM:190351 TRPS1 7227 HP:0000430 Underdeveloped nasal alae OMIM:190351 TRPS1 7227 HP:0002750 Delayed skeletal maturation OMIM:190351 TRPS1 7227 HP:0009803 Short phalanx of finger OMIM:190351 TRPS1 7227 HP:0000678 Dental crowding OMIM:190351 TRPS1 7227 HP:0005338 Sparse lateral eyebrow OMIM:190351 TRPS1 7227 HP:0009381 Short finger OMIM:190351 TRPS1 7227 HP:0000343 Long philtrum OMIM:121050 FBN2 2201 HP:0000938 Osteopenia OMIM:121050 FBN2 2201 HP:0002575 Tracheoesophageal fistula OMIM:121050 FBN2 2201 HP:0009901 Crumpled ear OMIM:121050 FBN2 2201 HP:0000248 Brachycephaly OMIM:121050 FBN2 2201 HP:0001629 Ventricular septal defect OMIM:121050 FBN2 2201 HP:0001166 Arachnodactyly OMIM:121050 FBN2 2201 HP:0000218 High palate OMIM:121050 FBN2 2201 HP:0005684 Distal arthrogryposis OMIM:121050 FBN2 2201 HP:0002999 Patellar dislocation OMIM:121050 FBN2 2201 HP:0008962 Calf muscle hypoplasia OMIM:121050 FBN2 2201 HP:0001762 Talipes equinovarus OMIM:121050 FBN2 2201 HP:0000347 Micrognathia OMIM:121050 FBN2 2201 HP:0010499 Patellar subluxation OMIM:121050 FBN2 2201 HP:0000545 Myopia OMIM:121050 FBN2 2201 HP:0001647 Bicuspid aortic valve OMIM:121050 FBN2 2201 HP:0001631 Defect in the atrial septum OMIM:121050 FBN2 2201 HP:0001643 Patent ductus arteriosus OMIM:121050 FBN2 2201 HP:0001181 Adducted thumb OMIM:121050 FBN2 2201 HP:0001634 Mitral valve prolapse OMIM:121050 FBN2 2201 HP:0100490 Camptodactyly of finger OMIM:121050 FBN2 2201 HP:0001724 Aortic dilatation OMIM:121050 FBN2 2201 HP:0001840 Metatarsus adductus OMIM:121050 FBN2 2201 HP:0002804 Arthrogryposis multiplex congenita OMIM:121050 FBN2 2201 HP:0001270 Motor delay OMIM:121050 FBN2 2201 HP:0002987 Elbow flexion contracture OMIM:121050 FBN2 2201 HP:0006380 Knee flexion contracture OMIM:121050 FBN2 2201 HP:0008453 Congenital kyphoscoliosis OMIM:121050 FBN2 2201 HP:0000006 Autosomal dominant inheritance OMIM:121050 FBN2 2201 HP:0000174 Abnormality of the palate OMIM:121050 FBN2 2201 HP:0001519 Disproportionate tall stature OMIM:121050 FBN2 2201 HP:0001653 Mitral regurgitation OMIM:121050 FBN2 2201 HP:0002566 Intestinal malrotation OMIM:121050 FBN2 2201 HP:0000470 Short neck OMIM:121050 FBN2 2201 HP:0008572 External ear malformation OMIM:121050 FBN2 2201 HP:0011039 Abnormality of the helix OMIM:121050 FBN2 2201 HP:0001633 Abnormality of the mitral valve OMIM:121050 FBN2 2201 HP:0000268 Dolichocephaly OMIM:121050 FBN2 2201 HP:0001083 Ectopia lentis OMIM:121050 FBN2 2201 HP:0002007 Frontal bossing OMIM:121050 FBN2 2201 HP:0000768 Pectus carinatum OMIM:121050 FBN2 2201 HP:0003273 Hip contracture OMIM:121050 FBN2 2201 HP:0002751 Kyphoscoliosis OMIM:121050 FBN2 2201 HP:0002616 Aortic root dilatation OMIM:121050 FBN2 2201 HP:0100867 Duodenal stenosis OMIM:121050 FBN2 2201 HP:0009465 Ulnar deviation of finger OMIM:614750 DPAGT1 1798 HP:0003677 Slow progression OMIM:614750 DPAGT1 1798 HP:0001252 Muscular hypotonia OMIM:614750 DPAGT1 1798 HP:0002650 Scoliosis OMIM:614750 DPAGT1 1798 HP:0003701 Proximal muscle weakness OMIM:614750 DPAGT1 1798 HP:0001270 Motor delay OMIM:614750 DPAGT1 1798 HP:0000006 Autosomal dominant inheritance OMIM:614750 DPAGT1 1798 HP:0000007 Autosomal recessive inheritance OMIM:605814 SLC25A13 10165 HP:0001510 Growth delay OMIM:605814 SLC25A13 10165 HP:0001508 Failure to thrive OMIM:605814 SLC25A13 10165 HP:0003233 Hypoalphalipoproteinemia OMIM:605814 SLC25A13 10165 HP:0002155 Hypertriglyceridemia OMIM:605814 SLC25A13 10165 HP:0000007 Autosomal recessive inheritance OMIM:605814 SLC25A13 10165 HP:0001394 Cirrhosis OMIM:605814 SLC25A13 10165 HP:0011966 Elevated plasma citrulline OMIM:605814 SLC25A13 10165 HP:0002904 Hyperbilirubinemia OMIM:605814 SLC25A13 10165 HP:0003235 Hypermethioninemia OMIM:605814 SLC25A13 10165 HP:0003124 Hypercholesterolemia OMIM:605814 SLC25A13 10165 HP:0001406 Intrahepatic cholestasis OMIM:113620 TFAP2A 7020 HP:0000954 Single transverse palmar crease OMIM:113620 TFAP2A 7020 HP:0002808 Kyphosis OMIM:113620 TFAP2A 7020 HP:0002167 Neurological speech impairment OMIM:113620 TFAP2A 7020 HP:0000612 Iris coloboma OMIM:113620 TFAP2A 7020 HP:0100335 Non-midline cleft lip OMIM:113620 TFAP2A 7020 HP:0008065 Aplasia/Hypoplasia of the skin OMIM:113620 TFAP2A 7020 HP:0000366 Abnormality of the nose OMIM:113620 TFAP2A 7020 HP:0010566 Hamartoma OMIM:113620 TFAP2A 7020 HP:0002335 Agenesis of cerebellar vermis OMIM:113620 TFAP2A 7020 HP:0000104 Renal agenesis OMIM:113620 TFAP2A 7020 HP:0000455 Broad nasal tip OMIM:113620 TFAP2A 7020 HP:0008678 Renal hypoplasia/aplasia OMIM:113620 TFAP2A 7020 HP:0008897 Postnatal growth retardation OMIM:113620 TFAP2A 7020 HP:0000407 Sensorineural hearing impairment OMIM:113620 TFAP2A 7020 HP:0002987 Elbow flexion contracture OMIM:113620 TFAP2A 7020 HP:0002021 Pyloric stenosis OMIM:113620 TFAP2A 7020 HP:0005217 Duplication of internal organs OMIM:113620 TFAP2A 7020 HP:0010517 Ectopic thymus tissue OMIM:113620 TFAP2A 7020 HP:0004464 Postauricular pit OMIM:113620 TFAP2A 7020 HP:0000396 Overfolded helix OMIM:113620 TFAP2A 7020 HP:0000204 Cleft upper lip OMIM:113620 TFAP2A 7020 HP:0000196 Lower lip pit OMIM:113620 TFAP2A 7020 HP:0004334 Dermal atrophy OMIM:113620 TFAP2A 7020 HP:0001511 Intrauterine growth retardation OMIM:113620 TFAP2A 7020 HP:0000632 Lacrimation abnormality OMIM:113620 TFAP2A 7020 HP:0000486 Strabismus OMIM:113620 TFAP2A 7020 HP:0000420 Short nasal septum OMIM:113620 TFAP2A 7020 HP:0000232 Everted lower lip vermilion OMIM:113620 TFAP2A 7020 HP:0000639 Nystagmus OMIM:113620 TFAP2A 7020 HP:0000268 Dolichocephaly OMIM:113620 TFAP2A 7020 HP:0000368 Low-set, posteriorly rotated ears OMIM:113620 TFAP2A 7020 HP:0009794 Branchial anomaly OMIM:113620 TFAP2A 7020 HP:0000518 Cataract OMIM:113620 TFAP2A 7020 HP:0002020 Gastroesophageal reflux OMIM:113620 TFAP2A 7020 HP:0001231 Abnormality of the fingernails OMIM:113620 TFAP2A 7020 HP:0000164 Abnormality of the teeth OMIM:113620 TFAP2A 7020 HP:0000582 Upslanted palpebral fissure OMIM:113620 TFAP2A 7020 HP:0002211 White forelock OMIM:113620 TFAP2A 7020 HP:0000482 Microcornea OMIM:113620 TFAP2A 7020 HP:0001804 Hypoplastic fingernail OMIM:113620 TFAP2A 7020 HP:0000470 Short neck OMIM:113620 TFAP2A 7020 HP:0002216 Premature graying of hair OMIM:113620 TFAP2A 7020 HP:0005473 Fusion of middle ear ossicles OMIM:113620 TFAP2A 7020 HP:0009623 Proximal placement of thumb OMIM:113620 TFAP2A 7020 HP:0000028 Cryptorchidism OMIM:113620 TFAP2A 7020 HP:0001177 Preaxial hand polydactyly OMIM:113620 TFAP2A 7020 HP:0002002 Deep philtrum OMIM:113620 TFAP2A 7020 HP:0004467 Preauricular pit OMIM:113620 TFAP2A 7020 HP:0005280 Depressed nasal bridge OMIM:113620 TFAP2A 7020 HP:0000272 Malar flattening OMIM:113620 TFAP2A 7020 HP:0004785 Malrotation of colon OMIM:113620 TFAP2A 7020 HP:0000316 Hypertelorism OMIM:113620 TFAP2A 7020 HP:0000107 Renal cyst OMIM:113620 TFAP2A 7020 HP:0001608 Abnormality of the voice OMIM:113620 TFAP2A 7020 HP:0000369 Low-set ears OMIM:113620 TFAP2A 7020 HP:0001057 Aplasia cutis congenita OMIM:113620 TFAP2A 7020 HP:0000480 Retinal coloboma OMIM:113620 TFAP2A 7020 HP:0000691 Microdontia OMIM:113620 TFAP2A 7020 HP:0008551 Microtia OMIM:113620 TFAP2A 7020 HP:0000175 Cleft palate OMIM:113620 TFAP2A 7020 HP:0000567 Chorioretinal coloboma OMIM:113620 TFAP2A 7020 HP:0000405 Conductive hearing impairment OMIM:113620 TFAP2A 7020 HP:0000252 Microcephaly OMIM:113620 TFAP2A 7020 HP:0001250 Seizures OMIM:113620 TFAP2A 7020 HP:0002558 Supernumerary nipple OMIM:113620 TFAP2A 7020 HP:0000347 Micrognathia OMIM:113620 TFAP2A 7020 HP:0008559 Hypoplastic superior helix OMIM:113620 TFAP2A 7020 HP:0000987 Atypical scarring of skin OMIM:113620 TFAP2A 7020 HP:0009804 Reduced number of teeth OMIM:113620 TFAP2A 7020 HP:0009778 Short thumb OMIM:113620 TFAP2A 7020 HP:0000579 Nasolacrimal duct obstruction OMIM:113620 TFAP2A 7020 HP:0000350 Small forehead OMIM:113620 TFAP2A 7020 HP:0006610 Wide intermamillary distance OMIM:113620 TFAP2A 7020 HP:0000528 Anophthalmia OMIM:113620 TFAP2A 7020 HP:0000174 Abnormality of the palate OMIM:113620 TFAP2A 7020 HP:0004209 Clinodactyly of the 5th finger OMIM:113620 TFAP2A 7020 HP:0002162 Low posterior hairline OMIM:113620 TFAP2A 7020 HP:0100267 Lip pit OMIM:113620 TFAP2A 7020 HP:0004322 Short stature OMIM:113620 TFAP2A 7020 HP:0001611 Nasal speech OMIM:113620 TFAP2A 7020 HP:0000508 Ptosis OMIM:113620 TFAP2A 7020 HP:0001256 Intellectual disability, mild OMIM:113620 TFAP2A 7020 HP:0000003 Multicystic kidney dysplasia OMIM:113620 TFAP2A 7020 HP:0008572 External ear malformation OMIM:113620 TFAP2A 7020 HP:0008606 Supraauricular pit OMIM:113620 TFAP2A 7020 HP:0000545 Myopia OMIM:113620 TFAP2A 7020 HP:0003307 Hyperlordosis OMIM:113620 TFAP2A 7020 HP:0010767 Sacrococcygeal pilonidal abnormality OMIM:113620 TFAP2A 7020 HP:0000047 Hypospadias OMIM:113620 TFAP2A 7020 HP:0000006 Autosomal dominant inheritance OMIM:113620 TFAP2A 7020 HP:0000506 Telecanthus OMIM:113620 TFAP2A 7020 HP:0000568 Microphthalmos ORPHANET:871 SCN5A 6331 HP:0011675 Arrhythmia ORPHANET:871 TRPM4 54795 HP:0011675 Arrhythmia ORPHANET:871 NKX2-5 1482 HP:0011675 Arrhythmia ORPHANET:871 SCN1B 6324 HP:0011675 Arrhythmia OMIM:615058 LRIT3 345193 HP:0000545 Myopia OMIM:615058 LRIT3 345193 HP:0000486 Strabismus OMIM:615058 LRIT3 345193 HP:0007642 Congenital stationary night blindness OMIM:615058 LRIT3 345193 HP:0000007 Autosomal recessive inheritance OMIM:167200 KRT16 3868 HP:0000006 Autosomal dominant inheritance OMIM:167200 KRT16 3868 HP:0000972 Palmoplantar hyperkeratosis OMIM:167200 KRT16 3868 HP:0002745 Oral leukoplakia OMIM:167200 KRT16 3868 HP:0007502 Follicular hyperkeratosis OMIM:167200 KRT16 3868 HP:0001805 Thick nail OMIM:167200 KRT16 3868 HP:0001425 Heterogeneous OMIM:610185 WDR81 124997 HP:0001310 Dysmetria OMIM:610185 WDR81 124997 HP:0000464 Abnormality of the neck OMIM:610185 WDR81 124997 HP:0200055 Small hand OMIM:610185 WDR81 124997 HP:0006887 Intellectual disability, progressive OMIM:610185 WDR81 124997 HP:0002079 Hypoplasia of the corpus callosum OMIM:610185 WDR81 124997 HP:0002942 Thoracic kyphosis OMIM:610185 WDR81 124997 HP:0001321 Cerebellar hypoplasia OMIM:610185 WDR81 124997 HP:0001260 Dysarthria OMIM:610185 WDR81 124997 HP:0002943 Thoracic scoliosis OMIM:610185 WDR81 124997 HP:0001773 Short foot OMIM:610185 WDR81 124997 HP:0001007 Hirsutism OMIM:610185 WDR81 124997 HP:0010864 Intellectual disability, severe OMIM:610185 WDR81 124997 HP:0001272 Cerebellar atrophy OMIM:610185 WDR81 124997 HP:0000486 Strabismus OMIM:610185 WDR81 124997 HP:0002075 Dysdiadochokinesis OMIM:610185 WDR81 124997 HP:0000007 Autosomal recessive inheritance OMIM:610185 WDR81 124997 HP:0003593 Infantile onset OMIM:610185 WDR81 124997 HP:0000750 Delayed speech and language development OMIM:610185 WDR81 124997 HP:0001265 Hyporeflexia OMIM:610185 WDR81 124997 HP:0001337 Tremor OMIM:610185 WDR81 124997 HP:0004279 Short palm OMIM:610185 WDR81 124997 HP:0007047 Atrophy of the dentate nucleus OMIM:610185 WDR81 124997 HP:0002283 Global brain atrophy OMIM:610185 WDR81 124997 HP:0004322 Short stature OMIM:610185 WDR81 124997 HP:0002078 Truncal ataxia OMIM:610185 WDR81 124997 HP:0001263 Global developmental delay OMIM:610185 WDR81 124997 HP:0007063 Aplasia of the inferior half of the cerebellar vermis OMIM:610185 WDR81 124997 HP:0000280 Coarse facial features OMIM:604864 COL2A1 1280 HP:0003301 Irregular vertebral endplates OMIM:604864 COL2A1 1280 HP:0000926 Platyspondyly OMIM:604864 COL2A1 1280 HP:0030041 Schmorl's node OMIM:604864 COL2A1 1280 HP:0000006 Autosomal dominant inheritance OMIM:604864 COL2A1 1280 HP:0004322 Short stature OMIM:604864 COL2A1 1280 HP:0004568 Beaking of vertebral bodies OMIM:604864 COL2A1 1280 HP:0005086 Knee osteoarthritis OMIM:604864 COL2A1 1280 HP:0008843 Hip osteoarthritis OMIM:604864 COL2A1 1280 HP:0012313 Heberden's node OMIM:604864 COL2A1 1280 HP:0001387 Joint stiffness OMIM:255160 MYH7 4625 HP:0003677 Slow progression OMIM:255160 MYH7 4625 HP:0000218 High palate OMIM:255160 MYH7 4625 HP:0001639 Hypertrophic cardiomyopathy OMIM:255160 MYH7 4625 HP:0001635 Congestive heart failure OMIM:255160 MYH7 4625 HP:0003687 Centrally nucleated skeletal muscle fibers OMIM:255160 MYH7 4625 HP:0001644 Dilated cardiomyopathy OMIM:255160 MYH7 4625 HP:0003803 Type 1 muscle fiber predominance OMIM:255160 MYH7 4625 HP:0003704 Scapuloperoneal weakness OMIM:255160 MYH7 4625 HP:0000007 Autosomal recessive inheritance OMIM:255160 MYH7 4625 HP:0002058 Myopathic facies OMIM:255160 MYH7 4625 HP:0003236 Elevated serum creatine phosphokinase OMIM:255160 MYH7 4625 HP:0002093 Respiratory insufficiency OMIM:255160 MYH7 4625 HP:0002650 Scoliosis OMIM:255160 MYH7 4625 HP:0003697 Scapuloperoneal amyotrophy OMIM:255160 MYH7 4625 HP:0003458 EMG: myopathic abnormalities OMIM:219150 ALDH18A1 5832 HP:0100543 Cognitive impairment OMIM:219150 ALDH18A1 5832 HP:0000518 Cataract OMIM:219150 ALDH18A1 5832 HP:0000601 Hypotelorism OMIM:219150 ALDH18A1 5832 HP:0003510 Severe short stature OMIM:219150 ALDH18A1 5832 HP:0001084 Corneal arcus OMIM:219150 ALDH18A1 5832 HP:0000973 Cutis laxa OMIM:219150 ALDH18A1 5832 HP:0007394 Prominent superficial blood vessels OMIM:219150 ALDH18A1 5832 HP:0008070 Sparse hair OMIM:219150 ALDH18A1 5832 HP:0002007 Frontal bossing OMIM:219150 ALDH18A1 5832 HP:0002750 Delayed skeletal maturation OMIM:219150 ALDH18A1 5832 HP:0000963 Thin skin OMIM:219150 ALDH18A1 5832 HP:0010537 Wide cranial sutures OMIM:219150 ALDH18A1 5832 HP:0001374 Congenital hip dislocation OMIM:219150 ALDH18A1 5832 HP:0001263 Global developmental delay OMIM:219150 ALDH18A1 5832 HP:0001347 Hyperreflexia OMIM:219150 ALDH18A1 5832 HP:0001508 Failure to thrive OMIM:219150 ALDH18A1 5832 HP:0011220 Prominent forehead OMIM:219150 ALDH18A1 5832 HP:0001181 Adducted thumb OMIM:219150 ALDH18A1 5832 HP:0003745 Sporadic OMIM:219150 ALDH18A1 5832 HP:0000418 Narrow nasal ridge OMIM:219150 ALDH18A1 5832 HP:0000316 Hypertelorism OMIM:219150 ALDH18A1 5832 HP:0000248 Brachycephaly OMIM:219150 ALDH18A1 5832 HP:0000545 Myopia OMIM:219150 ALDH18A1 5832 HP:0001762 Talipes equinovarus OMIM:219150 ALDH18A1 5832 HP:0001511 Intrauterine growth retardation OMIM:219150 ALDH18A1 5832 HP:0001250 Seizures OMIM:219150 ALDH18A1 5832 HP:0000400 Macrotia OMIM:219150 ALDH18A1 5832 HP:0000239 Large fontanelles OMIM:219150 ALDH18A1 5832 HP:0001382 Joint hypermobility OMIM:219150 ALDH18A1 5832 HP:0000486 Strabismus OMIM:219150 ALDH18A1 5832 HP:0000023 Inguinal hernia OMIM:219150 ALDH18A1 5832 HP:0000369 Low-set ears OMIM:219150 ALDH18A1 5832 HP:0000767 Pectus excavatum OMIM:219150 ALDH18A1 5832 HP:0002650 Scoliosis OMIM:219150 ALDH18A1 5832 HP:0002305 Athetosis OMIM:219150 ALDH18A1 5832 HP:0000007 Autosomal recessive inheritance OMIM:219150 ALDH18A1 5832 HP:0000974 Hyperextensible skin OMIM:219150 ALDH18A1 5832 HP:0001252 Muscular hypotonia OMIM:219150 ALDH18A1 5832 HP:0001537 Umbilical hernia OMIM:219150 ALDH18A1 5832 HP:0002645 Wormian bones OMIM:219150 ALDH18A1 5832 HP:0001249 Intellectual disability OMIM:219150 ALDH18A1 5832 HP:0000160 Narrow mouth OMIM:615081 KLHL10 317719 HP:0012864 Abnormal sperm morphology OMIM:615081 KLHL10 317719 HP:0000006 Autosomal dominant inheritance OMIM:615081 KLHL10 317719 HP:0000789 Infertility OMIM:187601 FGFR3 2261 HP:0008909 Lethal short-limbed short stature OMIM:187601 FGFR3 2261 HP:0000910 Wide-cupped costochondral junctions OMIM:187601 FGFR3 2261 HP:0002677 Small foramen magnum OMIM:187601 FGFR3 2261 HP:0000274 Small face OMIM:187601 FGFR3 2261 HP:0000006 Autosomal dominant inheritance OMIM:187601 FGFR3 2261 HP:0001156 Brachydactyly syndrome OMIM:187601 FGFR3 2261 HP:0000774 Narrow chest OMIM:187601 FGFR3 2261 HP:0003025 Metaphyseal irregularity OMIM:187601 FGFR3 2261 HP:0000773 Short ribs OMIM:187601 FGFR3 2261 HP:0003015 Flared metaphysis OMIM:187601 FGFR3 2261 HP:0001561 Polyhydramnios OMIM:187601 FGFR3 2261 HP:0006584 Small abnormally formed scapulae OMIM:187601 FGFR3 2261 HP:0000946 Hypoplastic ilia OMIM:187601 FGFR3 2261 HP:0001558 Decreased fetal movement OMIM:187601 FGFR3 2261 HP:0002676 Cloverleaf skull OMIM:187601 FGFR3 2261 HP:0003185 Short sacroiliac notch OMIM:187601 FGFR3 2261 HP:0003811 Neonatal death OMIM:187601 FGFR3 2261 HP:0000926 Platyspondyly OMIM:187601 FGFR3 2261 HP:0002093 Respiratory insufficiency OMIM:614199 LAMB2 3913 HP:0000100 Nephrotic syndrome OMIM:614199 LAMB2 3913 HP:0000545 Myopia OMIM:614199 LAMB2 3913 HP:0000639 Nystagmus OMIM:614199 LAMB2 3913 HP:0000007 Autosomal recessive inheritance OMIM:614199 LAMB2 3913 HP:0000093 Proteinuria OMIM:614199 LAMB2 3913 HP:0003774 Stage 5 chronic kidney disease OMIM:614199 LAMB2 3913 HP:0000486 Strabismus OMIM:608565 ESRRB 2103 HP:0000407 Sensorineural hearing impairment OMIM:608565 ESRRB 2103 HP:0000007 Autosomal recessive inheritance OMIM:615396 MYBPC3 4607 HP:0000006 Autosomal dominant inheritance OMIM:615396 MYBPC3 4607 HP:0001644 Dilated cardiomyopathy OMIM:203450 GFAP 2670 HP:0000639 Nystagmus OMIM:203450 GFAP 2670 HP:0000651 Diplopia OMIM:203450 GFAP 2670 HP:0007256 Abnormal pyramidal signs OMIM:203450 GFAP 2670 HP:0001355 Megalencephaly OMIM:203450 GFAP 2670 HP:0002007 Frontal bossing OMIM:203450 GFAP 2670 HP:0001288 Gait disturbance OMIM:203450 GFAP 2670 HP:0001645 Sudden cardiac death OMIM:203450 GFAP 2670 HP:0002383 Encephalitis OMIM:203450 GFAP 2670 HP:0001250 Seizures OMIM:203450 GFAP 2670 HP:0007162 Diffuse demyelination of the cerebral white matter OMIM:203450 GFAP 2670 HP:0004349 Reduced bone mineral density OMIM:203450 GFAP 2670 HP:0000174 Abnormality of the palate OMIM:203450 GFAP 2670 HP:0002200 Pseudobulbar signs OMIM:203450 GFAP 2670 HP:0100543 Cognitive impairment OMIM:203450 GFAP 2670 HP:0002650 Scoliosis OMIM:203450 GFAP 2670 HP:0002376 Developmental regression OMIM:203450 GFAP 2670 HP:0002270 Abnormality of the autonomic nervous system OMIM:203450 GFAP 2670 HP:0100716 Self-injurious behavior OMIM:203450 GFAP 2670 HP:0002922 Increased CSF protein OMIM:203450 GFAP 2670 HP:0100729 Large face OMIM:203450 GFAP 2670 HP:0002167 Neurological speech impairment OMIM:203450 GFAP 2670 HP:0002019 Constipation OMIM:203450 GFAP 2670 HP:0001276 Hypertonia OMIM:203450 GFAP 2670 HP:0002072 Chorea OMIM:203450 GFAP 2670 HP:0002045 Hypothermia OMIM:203450 GFAP 2670 HP:0000819 Diabetes mellitus OMIM:203450 GFAP 2670 HP:0004374 Hemiplegia/hemiparesis OMIM:203450 GFAP 2670 HP:0002607 Bowel incontinence OMIM:203450 GFAP 2670 HP:0002104 Apnea OMIM:203450 GFAP 2670 HP:0002615 Hypotension OMIM:203450 GFAP 2670 HP:0000006 Autosomal dominant inheritance OMIM:203450 GFAP 2670 HP:0002514 Cerebral calcification OMIM:203450 GFAP 2670 HP:0002311 Incoordination OMIM:203450 GFAP 2670 HP:0000508 Ptosis OMIM:203450 GFAP 2670 HP:0000821 Hypothyroidism OMIM:203450 GFAP 2670 HP:0010628 Facial palsy OMIM:203450 GFAP 2670 HP:0008872 Feeding difficulties in infancy OMIM:203450 GFAP 2670 HP:0000470 Short neck OMIM:203450 GFAP 2670 HP:0000826 Precocious puberty OMIM:203450 GFAP 2670 HP:0002360 Sleep disturbance OMIM:203450 GFAP 2670 HP:0002410 Aqueductal stenosis OMIM:203450 GFAP 2670 HP:0002483 Bulbar signs OMIM:203450 GFAP 2670 HP:0012211 Abnormal renal physiology OMIM:203450 GFAP 2670 HP:0001337 Tremor OMIM:203450 GFAP 2670 HP:0001347 Hyperreflexia OMIM:203450 GFAP 2670 HP:0002808 Kyphosis OMIM:203450 GFAP 2670 HP:0003593 Infantile onset OMIM:203450 GFAP 2670 HP:0002093 Respiratory insufficiency OMIM:203450 GFAP 2670 HP:0002353 EEG abnormality OMIM:203450 GFAP 2670 HP:0000975 Hyperhidrosis OMIM:203450 GFAP 2670 HP:0000238 Hydrocephalus OMIM:203450 GFAP 2670 HP:0004481 Progressive macrocephaly OMIM:203450 GFAP 2670 HP:0001257 Spasticity OMIM:203450 GFAP 2670 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:203450 GFAP 2670 HP:0003307 Hyperlordosis OMIM:203450 GFAP 2670 HP:0001251 Ataxia OMIM:203450 GFAP 2670 HP:0002017 Nausea and vomiting OMIM:203450 GFAP 2670 HP:0001252 Muscular hypotonia OMIM:203450 GFAP 2670 HP:0100247 Recurrent singultus OMIM:203450 GFAP 2670 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:203450 GFAP 2670 HP:0000995 Melanocytic nevus OMIM:203450 GFAP 2670 HP:0000822 Hypertension OMIM:608776 ALG9 79796 HP:0001399 Hepatic failure OMIM:608776 ALG9 79796 HP:0100543 Cognitive impairment OMIM:608776 ALG9 79796 HP:0001250 Seizures OMIM:608776 ALG9 79796 HP:0001252 Muscular hypotonia OMIM:613454 FOXG1 2290 HP:0000253 Progressive microcephaly OMIM:613454 FOXG1 2290 HP:0009879 Cortical gyral simplification OMIM:613454 FOXG1 2290 HP:0002808 Kyphosis OMIM:613454 FOXG1 2290 HP:0001332 Dystonia OMIM:613454 FOXG1 2290 HP:0002019 Constipation OMIM:613454 FOXG1 2290 HP:0002072 Chorea OMIM:613454 FOXG1 2290 HP:0002305 Athetosis OMIM:613454 FOXG1 2290 HP:0002353 EEG abnormality OMIM:613454 FOXG1 2290 HP:0003763 Bruxism OMIM:613454 FOXG1 2290 HP:0001762 Talipes equinovarus OMIM:613454 FOXG1 2290 HP:0001250 Seizures OMIM:613454 FOXG1 2290 HP:0001319 Neonatal hypotonia OMIM:613454 FOXG1 2290 HP:0002020 Gastroesophageal reflux OMIM:613454 FOXG1 2290 HP:0012448 Delayed myelination OMIM:613454 FOXG1 2290 HP:0001302 Pachygyria OMIM:613454 FOXG1 2290 HP:0002186 Apraxia OMIM:613454 FOXG1 2290 HP:0001270 Motor delay OMIM:613454 FOXG1 2290 HP:0100703 Tongue thrusting OMIM:613454 FOXG1 2290 HP:0001763 Pes planus OMIM:613454 FOXG1 2290 HP:0002079 Hypoplasia of the corpus callosum OMIM:613454 FOXG1 2290 HP:0002307 Drooling OMIM:613454 FOXG1 2290 HP:0010864 Intellectual disability, severe OMIM:613454 FOXG1 2290 HP:0001257 Spasticity OMIM:613454 FOXG1 2290 HP:0100660 Dyskinesia OMIM:613454 FOXG1 2290 HP:0002650 Scoliosis OMIM:613454 FOXG1 2290 HP:0000817 Poor eye contact ORPHANET:1810 EDAR 10913 HP:0000963 Thin skin ORPHANET:1810 EDAR 10913 HP:0001000 Abnormality of skin pigmentation ORPHANET:1810 EDAR 10913 HP:0006323 Premature loss of primary teeth ORPHANET:1810 EDAR 10913 HP:0006482 Abnormality of dental morphology ORPHANET:1810 EDAR 10913 HP:0000964 Eczema ORPHANET:1810 EDAR 10913 HP:0009804 Reduced number of teeth ORPHANET:1810 EDAR 10913 HP:0001231 Abnormality of the fingernails ORPHANET:1810 EDAR 10913 HP:0011362 Abnormal hair quantity ORPHANET:1810 EDAR 10913 HP:0000958 Dry skin ORPHANET:1810 EDAR 10913 HP:0000704 Periodontitis ORPHANET:1810 EDAR 10913 HP:0000179 Thick lower lip vermilion ORPHANET:1810 EDAR 10913 HP:0002047 Malignant hyperthermia ORPHANET:1810 EDAR 10913 HP:0000966 Hypohidrosis ORPHANET:1810 EDAR 10913 HP:0000457 Depressed nasal ridge ORPHANET:1810 EDAR 10913 HP:0002007 Frontal bossing ORPHANET:1810 TRAF6 7189 HP:0000963 Thin skin ORPHANET:1810 TRAF6 7189 HP:0001000 Abnormality of skin pigmentation ORPHANET:1810 TRAF6 7189 HP:0006323 Premature loss of primary teeth ORPHANET:1810 TRAF6 7189 HP:0006482 Abnormality of dental morphology ORPHANET:1810 TRAF6 7189 HP:0000964 Eczema ORPHANET:1810 TRAF6 7189 HP:0009804 Reduced number of teeth ORPHANET:1810 TRAF6 7189 HP:0001231 Abnormality of the fingernails ORPHANET:1810 TRAF6 7189 HP:0011362 Abnormal hair quantity ORPHANET:1810 TRAF6 7189 HP:0000958 Dry skin ORPHANET:1810 TRAF6 7189 HP:0000704 Periodontitis ORPHANET:1810 TRAF6 7189 HP:0000179 Thick lower lip vermilion ORPHANET:1810 TRAF6 7189 HP:0002047 Malignant hyperthermia ORPHANET:1810 TRAF6 7189 HP:0000966 Hypohidrosis ORPHANET:1810 TRAF6 7189 HP:0000457 Depressed nasal ridge ORPHANET:1810 TRAF6 7189 HP:0002007 Frontal bossing ORPHANET:1810 EDARADD 128178 HP:0000963 Thin skin ORPHANET:1810 EDARADD 128178 HP:0001000 Abnormality of skin pigmentation ORPHANET:1810 EDARADD 128178 HP:0006323 Premature loss of primary teeth ORPHANET:1810 EDARADD 128178 HP:0006482 Abnormality of dental morphology ORPHANET:1810 EDARADD 128178 HP:0000964 Eczema ORPHANET:1810 EDARADD 128178 HP:0009804 Reduced number of teeth ORPHANET:1810 EDARADD 128178 HP:0001231 Abnormality of the fingernails ORPHANET:1810 EDARADD 128178 HP:0011362 Abnormal hair quantity ORPHANET:1810 EDARADD 128178 HP:0000958 Dry skin ORPHANET:1810 EDARADD 128178 HP:0000704 Periodontitis ORPHANET:1810 EDARADD 128178 HP:0000179 Thick lower lip vermilion ORPHANET:1810 EDARADD 128178 HP:0002047 Malignant hyperthermia ORPHANET:1810 EDARADD 128178 HP:0000966 Hypohidrosis ORPHANET:1810 EDARADD 128178 HP:0000457 Depressed nasal ridge ORPHANET:1810 EDARADD 128178 HP:0002007 Frontal bossing OMIM:614940 EDARADD 128178 HP:0000970 Anhidrosis OMIM:614940 EDARADD 128178 HP:0008070 Sparse hair OMIM:614940 EDARADD 128178 HP:0000958 Dry skin OMIM:614940 EDARADD 128178 HP:0007607 Hypohidrotic ectodermal dysplasia OMIM:614940 EDARADD 128178 HP:0000290 Abnormality of the forehead OMIM:614940 EDARADD 128178 HP:0000232 Everted lower lip vermilion OMIM:614940 EDARADD 128178 HP:0002561 Absent nipple OMIM:614940 EDARADD 128178 HP:0006483 Abnormal number of teeth OMIM:614940 EDARADD 128178 HP:0000006 Autosomal dominant inheritance OMIM:612237 NR4A3 8013 HP:0006765 Chondrosarcoma OMIM:612237 NR4A3 8013 HP:0001428 Somatic mutation OMIM:612237 TAF15 8148 HP:0006765 Chondrosarcoma OMIM:612237 TAF15 8148 HP:0001428 Somatic mutation OMIM:615948 C2CD3 26005 HP:0011069 Increased number of teeth OMIM:615948 C2CD3 26005 HP:0000243 Trigonocephaly OMIM:615948 C2CD3 26005 HP:0001249 Intellectual disability OMIM:615948 C2CD3 26005 HP:0000252 Microcephaly OMIM:615948 C2CD3 26005 HP:0000180 Lobulated tongue OMIM:615948 C2CD3 26005 HP:0001344 Absent speech OMIM:615948 C2CD3 26005 HP:0000054 Micropenis OMIM:615948 C2CD3 26005 HP:0000506 Telecanthus OMIM:615948 C2CD3 26005 HP:0000582 Upslanted palpebral fissure OMIM:615948 C2CD3 26005 HP:0001999 Abnormal facial shape OMIM:615948 C2CD3 26005 HP:0002419 Molar tooth sign on MRI OMIM:615948 C2CD3 26005 HP:0100259 Postaxial polydactyly OMIM:615948 C2CD3 26005 HP:0000175 Cleft palate OMIM:615948 C2CD3 26005 HP:0002079 Hypoplasia of the corpus callosum OMIM:600794 BSCL2 26580 HP:0001763 Pes planus OMIM:600794 BSCL2 26580 HP:0001347 Hyperreflexia OMIM:600794 BSCL2 26580 HP:0003484 Upper limb muscle weakness OMIM:600794 BSCL2 26580 HP:0003427 Thenar muscle weakness OMIM:600794 BSCL2 26580 HP:0002460 Distal muscle weakness OMIM:600794 BSCL2 26580 HP:0003393 Thenar muscle atrophy OMIM:600794 BSCL2 26580 HP:0003693 Distal amyotrophy OMIM:600794 BSCL2 26580 HP:0003392 First dorsal interossei muscle weakness OMIM:600794 BSCL2 26580 HP:0003426 First dorsal interossei muscle atrophy OMIM:600794 BSCL2 26580 HP:0003674 Onset OMIM:600794 BSCL2 26580 HP:0003677 Slow progression OMIM:600794 BSCL2 26580 HP:0001761 Pes cavus OMIM:600794 BSCL2 26580 HP:0001765 Hammertoe OMIM:600794 BSCL2 26580 HP:0000006 Autosomal dominant inheritance OMIM:600794 BSCL2 26580 HP:0003435 Cold-induced hand cramps OMIM:600794 GARS 2617 HP:0001763 Pes planus OMIM:600794 GARS 2617 HP:0001347 Hyperreflexia OMIM:600794 GARS 2617 HP:0003484 Upper limb muscle weakness OMIM:600794 GARS 2617 HP:0003427 Thenar muscle weakness OMIM:600794 GARS 2617 HP:0002460 Distal muscle weakness OMIM:600794 GARS 2617 HP:0003393 Thenar muscle atrophy OMIM:600794 GARS 2617 HP:0003693 Distal amyotrophy OMIM:600794 GARS 2617 HP:0003392 First dorsal interossei muscle weakness OMIM:600794 GARS 2617 HP:0003426 First dorsal interossei muscle atrophy OMIM:600794 GARS 2617 HP:0003674 Onset OMIM:600794 GARS 2617 HP:0003677 Slow progression OMIM:600794 GARS 2617 HP:0001761 Pes cavus OMIM:600794 GARS 2617 HP:0001765 Hammertoe OMIM:600794 GARS 2617 HP:0000006 Autosomal dominant inheritance OMIM:600794 GARS 2617 HP:0003435 Cold-induced hand cramps OMIM:142310 HBZ 3050 HP:0000006 Autosomal dominant inheritance OMIM:142310 HBZ 3050 HP:0011902 Abnormal hemoglobin OMIM:142310 HBZ 3050 HP:0003826 Stillbirth OMIM:615458 ADAMTS18 170692 HP:0000445 Wide nose OMIM:615458 ADAMTS18 170692 HP:0007787 Posterior subcapsular cataract OMIM:615458 ADAMTS18 170692 HP:0000506 Telecanthus OMIM:615458 ADAMTS18 170692 HP:0000007 Autosomal recessive inheritance OMIM:615458 ADAMTS18 170692 HP:0000482 Microcornea OMIM:615458 ADAMTS18 170692 HP:0000455 Broad nasal tip OMIM:615458 ADAMTS18 170692 HP:0000358 Posteriorly rotated ears OMIM:613720 KCNQ2 3785 HP:0001332 Dystonia OMIM:613720 KCNQ2 3785 HP:0001285 Spastic tetraparesis OMIM:613720 KCNQ2 3785 HP:0002079 Hypoplasia of the corpus callosum OMIM:613720 KCNQ2 3785 HP:0000006 Autosomal dominant inheritance OMIM:613720 KCNQ2 3785 HP:0003593 Infantile onset OMIM:613720 KCNQ2 3785 HP:0001263 Global developmental delay OMIM:613720 KCNQ2 3785 HP:0001252 Muscular hypotonia OMIM:613720 KCNQ2 3785 HP:0001249 Intellectual disability OMIM:613720 KCNQ2 3785 HP:0001250 Seizures OMIM:613720 KCNQ2 3785 HP:0200134 Epileptic encephalopathy OMIM:173470 ITGB3 3690 HP:0001928 Abnormality of coagulation OMIM:173470 ITGB3 3690 HP:0002239 Gastrointestinal hemorrhage OMIM:173470 ITGB3 3690 HP:0000225 Gingival bleeding OMIM:173470 ITGB3 3690 HP:0004813 Post-transfusion thrombocytopenia OMIM:173470 ITGB3 3690 HP:0000421 Epistaxis OMIM:173470 ITGB3 3690 HP:0000007 Autosomal recessive inheritance OMIM:173470 ITGB3 3690 HP:0003540 Impaired platelet aggregation OMIM:173470 ITGB3 3690 HP:0001975 Decreased platelet glycoprotein IIb-IIIa OMIM:173470 ITGB3 3690 HP:0000979 Purpura OMIM:173470 ITGB3 3690 HP:0002170 Intracranial hemorrhage OMIM:173470 ITGB3 3690 HP:0004809 Neonatal alloimmune thrombocytopenia OMIM:173470 ITGB3 3690 HP:0000978 Bruising susceptibility OMIM:173470 ITGB3 3690 HP:0000132 Menorrhagia OMIM:158600 DYNC1H1 1778 HP:0011463 Childhood onset OMIM:158600 DYNC1H1 1778 HP:0008994 Proximal muscle weakness in lower limbs OMIM:158600 DYNC1H1 1778 HP:0008956 Proximal lower limb amyotrophy OMIM:158600 DYNC1H1 1778 HP:0000006 Autosomal dominant inheritance OMIM:158600 DYNC1H1 1778 HP:0011808 Decreased patellar reflex OMIM:158600 DYNC1H1 1778 HP:0009046 Difficulty running OMIM:158600 DYNC1H1 1778 HP:0007269 Spinal muscular atrophy OMIM:158600 DYNC1H1 1778 HP:0003445 EMG: neuropathic changes OMIM:158600 DYNC1H1 1778 HP:0010602 Type 2 muscle fiber predominance OMIM:158600 DYNC1H1 1778 HP:0003677 Slow progression OMIM:158600 DYNC1H1 1778 HP:0003474 Sensory impairment OMIM:158600 DYNC1H1 1778 HP:0002515 Waddling gait OMIM:158600 DYNC1H1 1778 HP:0001760 Abnormality of the foot OMIM:276902 CLRN1 7401 HP:0001751 Vestibular dysfunction OMIM:276902 CLRN1 7401 HP:0007663 Decreased central vision OMIM:276902 CLRN1 7401 HP:0000510 Retinitis pigmentosa OMIM:276902 CLRN1 7401 HP:0000662 Night blindness OMIM:276902 CLRN1 7401 HP:0000007 Autosomal recessive inheritance OMIM:276902 CLRN1 7401 HP:0001123 Visual field defect OMIM:276902 CLRN1 7401 HP:0000407 Sensorineural hearing impairment OMIM:277400 MMACHC 25974 HP:0001249 Intellectual disability OMIM:277400 MMACHC 25974 HP:0000505 Visual impairment OMIM:277400 MMACHC 25974 HP:0000093 Proteinuria OMIM:277400 MMACHC 25974 HP:0001907 Thromboembolism OMIM:277400 MMACHC 25974 HP:0002120 Cerebral cortical atrophy OMIM:277400 MMACHC 25974 HP:0012120 Methylmalonic aciduria OMIM:277400 MMACHC 25974 HP:0002039 Anorexia OMIM:277400 MMACHC 25974 HP:0003286 Cystathioninemia OMIM:277400 MMACHC 25974 HP:0000083 Renal insufficiency OMIM:277400 MMACHC 25974 HP:0000238 Hydrocephalus OMIM:277400 MMACHC 25974 HP:0001289 Confusion OMIM:277400 MMACHC 25974 HP:0004372 Reduced consciousness/confusion OMIM:277400 MMACHC 25974 HP:0000319 Smooth philtrum OMIM:277400 MMACHC 25974 HP:0000488 Retinopathy OMIM:277400 MMACHC 25974 HP:0001263 Global developmental delay OMIM:277400 MMACHC 25974 HP:0005575 Hemolytic-uremic syndrome OMIM:277400 MMACHC 25974 HP:0000980 Pallor OMIM:277400 MMACHC 25974 HP:0001250 Seizures OMIM:277400 MMACHC 25974 HP:0003145 Decreased adenosylcobalamin OMIM:277400 MMACHC 25974 HP:0003593 Infantile onset OMIM:277400 MMACHC 25974 HP:0000252 Microcephaly OMIM:277400 MMACHC 25974 HP:0001252 Muscular hypotonia OMIM:277400 MMACHC 25974 HP:0001508 Failure to thrive OMIM:277400 MMACHC 25974 HP:0002156 Homocystinuria OMIM:277400 MMACHC 25974 HP:0000112 Nephropathy OMIM:277400 MMACHC 25974 HP:0001254 Lethargy OMIM:277400 MMACHC 25974 HP:0000348 High forehead OMIM:277400 MMACHC 25974 HP:0001337 Tremor OMIM:277400 MMACHC 25974 HP:0000369 Low-set ears OMIM:277400 MMACHC 25974 HP:0001889 Megaloblastic anemia OMIM:277400 MMACHC 25974 HP:0000580 Pigmentary retinopathy OMIM:277400 MMACHC 25974 HP:0002071 Abnormality of extrapyramidal motor function OMIM:277400 MMACHC 25974 HP:0000276 Long face OMIM:277400 MMACHC 25974 HP:0000726 Dementia OMIM:277400 MMACHC 25974 HP:0003658 Hypomethioninemia OMIM:277400 MMACHC 25974 HP:0003223 Decreased methylcobalamin OMIM:277400 MMACHC 25974 HP:0000400 Macrotia OMIM:277400 MMACHC 25974 HP:0003210 Decreased methylmalonyl-CoA mutase activity OMIM:277400 MMACHC 25974 HP:0008872 Feeding difficulties in infancy OMIM:277400 MMACHC 25974 HP:0001875 Neutropenia OMIM:277400 MMACHC 25974 HP:0000639 Nystagmus OMIM:277400 MMACHC 25974 HP:0002912 Methylmalonic acidemia OMIM:277400 MMACHC 25974 HP:0000007 Autosomal recessive inheritance OMIM:277400 MMACHC 25974 HP:0001942 Metabolic acidosis OMIM:277400 MMACHC 25974 HP:0000790 Hematuria OMIM:277400 MMACHC 25974 HP:0002160 Hyperhomocystinemia OMIM:277400 MMACHC 25974 HP:0003153 Cystathioninuria OMIM:277400 MMACHC 25974 HP:0003524 Decreased methionine synthase activity OMIM:277400 MMACHC 25974 HP:0001873 Thrombocytopenia OMIM:277300 DLL3 10683 HP:0001522 Death in infancy OMIM:277300 DLL3 10683 HP:0002205 Recurrent respiratory infections OMIM:277300 DLL3 10683 HP:0003510 Severe short stature OMIM:277300 DLL3 10683 HP:0003305 Block vertebrae OMIM:277300 DLL3 10683 HP:0000902 Rib fusion OMIM:277300 DLL3 10683 HP:0002937 Hemivertebrae OMIM:277300 DLL3 10683 HP:0000470 Short neck OMIM:277300 DLL3 10683 HP:0000007 Autosomal recessive inheritance OMIM:277300 DLL3 10683 HP:0003521 Disproportionate short-trunk short stature OMIM:277300 DLL3 10683 HP:0003310 Abnormality of the odontoid process OMIM:610251 ALDH2 217 HP:0001033 Facial flushing after alcohol intake OMIM:610251 ALDH2 217 HP:0003533 Delayed oxidation of acetaldehyde OMIM:611131 NR2E3 10002 HP:0000518 Cataract OMIM:611131 NR2E3 10002 HP:0000510 Retinitis pigmentosa OMIM:611131 NR2E3 10002 HP:0000642 Red-green dyschromatopsia OMIM:611131 NR2E3 10002 HP:0000580 Pigmentary retinopathy OMIM:611131 NR2E3 10002 HP:0008028 Cystoid macular degeneration OMIM:611131 NR2E3 10002 HP:0000613 Photophobia OMIM:611131 NR2E3 10002 HP:0000488 Retinopathy OMIM:611131 NR2E3 10002 HP:0000662 Night blindness OMIM:611131 NR2E3 10002 HP:0000007 Autosomal recessive inheritance OMIM:611131 NR2E3 10002 HP:0007688 Absent rod-and cone-mediated responses on ERG OMIM:611131 NR2E3 10002 HP:0000552 Tritanomaly OMIM:611131 NR2E3 10002 HP:0000006 Autosomal dominant inheritance OMIM:601977 MPL 4352 HP:0001428 Somatic mutation OMIM:601977 MPL 4352 HP:0000006 Autosomal dominant inheritance OMIM:601977 MPL 4352 HP:0001894 Thrombocytosis OMIM:613839 DHFR 1719 HP:0002421 Poor head control OMIM:613839 DHFR 1719 HP:0002059 Cerebral atrophy OMIM:613839 DHFR 1719 HP:0001252 Muscular hypotonia OMIM:613839 DHFR 1719 HP:0000007 Autosomal recessive inheritance OMIM:613839 DHFR 1719 HP:0005484 Postnatal microcephaly OMIM:613839 DHFR 1719 HP:0011968 Feeding difficulties OMIM:613839 DHFR 1719 HP:0001889 Megaloblastic anemia OMIM:613839 DHFR 1719 HP:0012448 Delayed myelination OMIM:613839 DHFR 1719 HP:0001251 Ataxia OMIM:613839 DHFR 1719 HP:0001263 Global developmental delay OMIM:613839 DHFR 1719 HP:0003828 Variable expressivity OMIM:613839 DHFR 1719 HP:0000980 Pallor OMIM:613839 DHFR 1719 HP:0002240 Hepatomegaly OMIM:613839 DHFR 1719 HP:0001876 Pancytopenia OMIM:613839 DHFR 1719 HP:0001873 Thrombocytopenia OMIM:613839 DHFR 1719 HP:0002121 Absence seizures OMIM:607485 GRN 2896 HP:0000738 Hallucinations OMIM:607485 GRN 2896 HP:0002145 Frontotemporal dementia OMIM:607485 GRN 2896 HP:0030223 Perseveration OMIM:607485 GRN 2896 HP:0002381 Aphasia OMIM:607485 GRN 2896 HP:0002300 Mutism OMIM:607485 GRN 2896 HP:0002529 Neuronal loss in central nervous system OMIM:607485 GRN 2896 HP:0002186 Apraxia OMIM:607485 GRN 2896 HP:0030214 Hypersexuality OMIM:607485 GRN 2896 HP:0002354 Memory impairment OMIM:607485 GRN 2896 HP:0000710 Hyperorality OMIM:607485 GRN 2896 HP:0000713 Agitation OMIM:607485 GRN 2896 HP:0000741 Apathy OMIM:607485 GRN 2896 HP:0000751 Personality changes OMIM:607485 GRN 2896 HP:0001300 Parkinsonism OMIM:607485 GRN 2896 HP:0002357 Dysphasia OMIM:607485 GRN 2896 HP:0008762 Repetitive compulsive behavior OMIM:607485 GRN 2896 HP:0007064 Progressive language deterioration OMIM:607485 GRN 2896 HP:0006956 Dilation of lateral ventricles OMIM:607485 GRN 2896 HP:0000734 Disinhibition OMIM:607485 GRN 2896 HP:0002171 Gliosis OMIM:607485 GRN 2896 HP:0002591 Polyphagia OMIM:607485 GRN 2896 HP:0000006 Autosomal dominant inheritance OMIM:607485 GRN 2896 HP:0002120 Cerebral cortical atrophy OMIM:612562 RPL11 6135 HP:0001636 Tetralogy of Fallot OMIM:612562 RPL11 6135 HP:0010487 Small hypothenar eminence OMIM:612562 RPL11 6135 HP:0001972 Macrocytic anemia OMIM:612562 RPL11 6135 HP:0001199 Triphalangeal thumb OMIM:612562 RPL11 6135 HP:0005518 Erythrocyte macrocytosis OMIM:612562 RPL11 6135 HP:0000006 Autosomal dominant inheritance OMIM:612562 RPL11 6135 HP:0000076 Vesicoureteral reflux OMIM:612562 RPL11 6135 HP:0000085 Horseshoe kidney OMIM:250250 RMRP 6023 HP:0001875 Neutropenia OMIM:250250 RMRP 6023 HP:0002251 Aganglionic megacolon OMIM:250250 RMRP 6023 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature OMIM:250250 RMRP 6023 HP:0002240 Hepatomegaly OMIM:250250 RMRP 6023 HP:0000535 Sparse eyebrow OMIM:250250 RMRP 6023 HP:0008450 Narrow vertebral interpedicular distance OMIM:250250 RMRP 6023 HP:0100543 Cognitive impairment OMIM:250250 RMRP 6023 HP:0001732 Abnormality of the pancreas OMIM:250250 RMRP 6023 HP:0004322 Short stature OMIM:250250 RMRP 6023 HP:0001156 Brachydactyly syndrome OMIM:250250 RMRP 6023 HP:0009832 Abnormality of the distal phalanx of finger OMIM:250250 RMRP 6023 HP:0000347 Micrognathia OMIM:250250 RMRP 6023 HP:0000174 Abnormality of the palate OMIM:250250 RMRP 6023 HP:0003347 Impaired lymphocyte transformation with phytohemagglutinin OMIM:250250 RMRP 6023 HP:0000007 Autosomal recessive inheritance OMIM:250250 RMRP 6023 HP:0002777 Tracheal stenosis OMIM:250250 RMRP 6023 HP:0100729 Large face OMIM:250250 RMRP 6023 HP:0002992 Abnormality of the tibia OMIM:250250 RMRP 6023 HP:0001972 Macrocytic anemia OMIM:250250 RMRP 6023 HP:0006589 Flaring of lower rib cage OMIM:250250 RMRP 6023 HP:0000774 Narrow chest OMIM:250250 RMRP 6023 HP:0100569 Abnormal vertebral ossification OMIM:250250 RMRP 6023 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:250250 RMRP 6023 HP:0002983 Micromelia OMIM:250250 RMRP 6023 HP:0002665 Lymphoma OMIM:250250 RMRP 6023 HP:0000960 Sacral dimple OMIM:250250 RMRP 6023 HP:0000768 Pectus carinatum OMIM:250250 RMRP 6023 HP:0002032 Esophageal atresia OMIM:250250 RMRP 6023 HP:0002938 Lumbar hyperlordosis OMIM:250250 RMRP 6023 HP:0007464 Sparse facial hair OMIM:250250 RMRP 6023 HP:0001671 Abnormality of the cardiac septa OMIM:250250 RMRP 6023 HP:0004348 Abnormality of bone mineral density OMIM:250250 RMRP 6023 HP:0003272 Abnormality of the hip bone OMIM:250250 RMRP 6023 HP:0002286 Fair hair OMIM:250250 RMRP 6023 HP:0002007 Frontal bossing OMIM:250250 RMRP 6023 HP:0000286 Epicanthus OMIM:250250 RMRP 6023 HP:0002024 Malabsorption OMIM:250250 RMRP 6023 HP:0000653 Sparse eyelashes OMIM:250250 RMRP 6023 HP:0000248 Brachycephaly OMIM:250250 RMRP 6023 HP:0001252 Muscular hypotonia OMIM:250250 RMRP 6023 HP:0008069 Neoplasm of the skin OMIM:250250 RMRP 6023 HP:0011362 Abnormal hair quantity OMIM:250250 RMRP 6023 HP:0002353 EEG abnormality OMIM:250250 RMRP 6023 HP:0000505 Visual impairment OMIM:250250 RMRP 6023 HP:0000272 Malar flattening OMIM:250250 RMRP 6023 HP:0000431 Wide nasal bridge OMIM:250250 RMRP 6023 HP:0005930 Abnormality of epiphysis morphology OMIM:250250 RMRP 6023 HP:0004810 Congenital hypoplastic anemia OMIM:250250 RMRP 6023 HP:0010306 Short thorax OMIM:250250 RMRP 6023 HP:0001382 Joint hypermobility OMIM:250250 RMRP 6023 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:250250 RMRP 6023 HP:0005280 Depressed nasal bridge OMIM:250250 RMRP 6023 HP:0002750 Delayed skeletal maturation OMIM:250250 RMRP 6023 HP:0000592 Blue sclerae OMIM:250250 RMRP 6023 HP:0000368 Low-set, posteriorly rotated ears OMIM:250250 RMRP 6023 HP:0002901 Hypocalcemia OMIM:250250 RMRP 6023 HP:0003021 Metaphyseal cupping OMIM:250250 RMRP 6023 HP:0000540 Hypermetropia OMIM:250250 RMRP 6023 HP:0002650 Scoliosis OMIM:250250 RMRP 6023 HP:0010301 Spinal dysraphism OMIM:250250 RMRP 6023 HP:0000545 Myopia OMIM:250250 RMRP 6023 HP:0000457 Depressed nasal ridge OMIM:250250 RMRP 6023 HP:0005360 Susceptibility to chickenpox OMIM:250250 RMRP 6023 HP:0001377 Limited elbow extension OMIM:250250 RMRP 6023 HP:0001639 Hypertrophic cardiomyopathy OMIM:250250 RMRP 6023 HP:0000470 Short neck OMIM:250250 RMRP 6023 HP:0001888 Lymphopenia OMIM:250250 RMRP 6023 HP:0000400 Macrotia OMIM:250250 RMRP 6023 HP:0004279 Short palm OMIM:250250 RMRP 6023 HP:0000486 Strabismus OMIM:250250 RMRP 6023 HP:0005374 Cellular immunodeficiency OMIM:250250 RMRP 6023 HP:0001315 Reduced tendon reflexes OMIM:250250 RMRP 6023 HP:0011675 Arrhythmia OMIM:250250 RMRP 6023 HP:0003220 Abnormality of chromosome stability OMIM:250250 RMRP 6023 HP:0000463 Anteverted nares OMIM:250250 RMRP 6023 HP:0100255 Metaphyseal dysplasia OMIM:250250 RMRP 6023 HP:0004313 Hypogammaglobulinemia OMIM:250250 RMRP 6023 HP:0005701 Multiple enchondromatosis OMIM:250250 RMRP 6023 HP:0003016 Metaphyseal widening OMIM:250250 RMRP 6023 HP:0007703 Abnormal retinal pigmentation OMIM:250250 RMRP 6023 HP:0000444 Convex nasal ridge OMIM:250250 RMRP 6023 HP:0002093 Respiratory insufficiency OMIM:250250 RMRP 6023 HP:0000212 Gingival overgrowth OMIM:250250 RMRP 6023 HP:0008921 Neonatal short-limb short stature OMIM:250250 RMRP 6023 HP:0002213 Fine hair OMIM:250250 RMRP 6023 HP:0006487 Bowing of the long bones OMIM:250250 RMRP 6023 HP:0005616 Accelerated skeletal maturation OMIM:250250 RMRP 6023 HP:0008155 Mucopolysacchariduria OMIM:604757 MSX2 4488 HP:0001199 Triphalangeal thumb OMIM:604757 MSX2 4488 HP:0001363 Craniosynostosis OMIM:604757 MSX2 4488 HP:0001250 Seizures OMIM:604757 MSX2 4488 HP:0009891 Underdeveloped supraorbital ridges OMIM:604757 MSX2 4488 HP:0003468 Abnormality of the vertebrae OMIM:604757 MSX2 4488 HP:0000545 Myopia OMIM:604757 MSX2 4488 HP:0002007 Frontal bossing OMIM:604757 MSX2 4488 HP:0000175 Cleft palate OMIM:615286 ADAT3 113179 HP:0003593 Infantile onset OMIM:615286 ADAT3 113179 HP:0001252 Muscular hypotonia OMIM:615286 ADAT3 113179 HP:0000565 Esotropia OMIM:615286 ADAT3 113179 HP:0001508 Failure to thrive OMIM:615286 ADAT3 113179 HP:0001249 Intellectual disability OMIM:615286 ADAT3 113179 HP:0000007 Autosomal recessive inheritance OMIM:615286 ADAT3 113179 HP:0000252 Microcephaly OMIM:182601 SPAST 6683 HP:0010550 Paraplegia OMIM:182601 SPAST 6683 HP:0001249 Intellectual disability OMIM:182601 SPAST 6683 HP:0001347 Hyperreflexia OMIM:182601 SPAST 6683 HP:0003419 Low back pain OMIM:182601 SPAST 6683 HP:0002314 Degeneration of the lateral corticospinal tracts OMIM:182601 SPAST 6683 HP:0003487 Babinski sign OMIM:182601 SPAST 6683 HP:0003587 Insidious onset OMIM:182601 SPAST 6683 HP:0002839 Urinary bladder sphincter dysfunction OMIM:182601 SPAST 6683 HP:0000006 Autosomal dominant inheritance OMIM:182601 SPAST 6683 HP:0000020 Urinary incontinence OMIM:182601 SPAST 6683 HP:0002166 Impaired vibration sensation in the lower limbs OMIM:182601 SPAST 6683 HP:0001258 Spastic paraplegia OMIM:182601 SPAST 6683 HP:0000713 Agitation OMIM:182601 SPAST 6683 HP:0002064 Spastic gait OMIM:182601 SPAST 6683 HP:0003676 Progressive disorder OMIM:182601 SPAST 6683 HP:0003743 Genetic anticipation OMIM:182601 SPAST 6683 HP:0000734 Disinhibition OMIM:182601 SPAST 6683 HP:0000716 Depression OMIM:182601 SPAST 6683 HP:0003828 Variable expressivity OMIM:182601 SPAST 6683 HP:0000639 Nystagmus OMIM:182601 SPAST 6683 HP:0002354 Memory impairment OMIM:182601 SPAST 6683 HP:0000741 Apathy OMIM:182601 SPAST 6683 HP:0000012 Urinary urgency OMIM:182601 SPAST 6683 HP:0007340 Lower limb muscle weakness OMIM:182601 SPAST 6683 HP:0000718 Aggressive behavior OMIM:182601 SPAST 6683 HP:0000726 Dementia OMIM:269840 ZAP70 7535 HP:0005401 Recurrent candida infections OMIM:269840 ZAP70 7535 HP:0002090 Pneumonia OMIM:269840 ZAP70 7535 HP:0001508 Failure to thrive OMIM:269840 ZAP70 7535 HP:0002014 Diarrhea OMIM:269840 ZAP70 7535 HP:0001744 Splenomegaly OMIM:269840 ZAP70 7535 HP:0000007 Autosomal recessive inheritance OMIM:269840 ZAP70 7535 HP:0003139 Panhypogammaglobulinemia OMIM:269840 ZAP70 7535 HP:0002240 Hepatomegaly OMIM:269840 ZAP70 7535 HP:0000976 Eczematoid dermatitis OMIM:615350 GMPPB 29925 HP:0001324 Muscle weakness OMIM:615350 GMPPB 29925 HP:0001263 Global developmental delay OMIM:615350 GMPPB 29925 HP:0012110 Hypoplasia of the pons OMIM:615350 GMPPB 29925 HP:0000407 Sensorineural hearing impairment OMIM:615350 GMPPB 29925 HP:0001321 Cerebellar hypoplasia OMIM:615350 GMPPB 29925 HP:0001249 Intellectual disability OMIM:615350 GMPPB 29925 HP:0003560 Muscular dystrophy OMIM:615350 GMPPB 29925 HP:0001251 Ataxia OMIM:615350 GMPPB 29925 HP:0001562 Oligohydramnios OMIM:615350 GMPPB 29925 HP:0000175 Cleft palate OMIM:615350 GMPPB 29925 HP:0011968 Feeding difficulties OMIM:615350 GMPPB 29925 HP:0000252 Microcephaly OMIM:615350 GMPPB 29925 HP:0003236 Elevated serum creatine phosphokinase OMIM:615350 GMPPB 29925 HP:0000007 Autosomal recessive inheritance OMIM:615350 GMPPB 29925 HP:0003577 Congenital onset OMIM:615350 GMPPB 29925 HP:0001344 Absent speech OMIM:613980 KCNJ2 3759 HP:0004757 Paroxysmal atrial fibrillation OMIM:613980 KCNJ2 3759 HP:0000006 Autosomal dominant inheritance ORPHANET:251071 GATA4 2626 HP:0000286 Epicanthus ORPHANET:251071 GATA4 2626 HP:0000028 Cryptorchidism ORPHANET:251071 GATA4 2626 HP:0009623 Proximal placement of thumb ORPHANET:251071 GATA4 2626 HP:0001513 Obesity ORPHANET:251071 GATA4 2626 HP:0000252 Microcephaly ORPHANET:251071 GATA4 2626 HP:0000366 Abnormality of the nose ORPHANET:251071 GATA4 2626 HP:0004414 Abnormality of the pulmonary artery ORPHANET:251071 GATA4 2626 HP:0000348 High forehead ORPHANET:251071 GATA4 2626 HP:0000470 Short neck ORPHANET:251071 GATA4 2626 HP:0000490 Deeply set eye ORPHANET:251071 GATA4 2626 HP:0001841 Preaxial foot polydactyly ORPHANET:251071 GATA4 2626 HP:0002167 Neurological speech impairment ORPHANET:251071 GATA4 2626 HP:0000174 Abnormality of the palate ORPHANET:251071 GATA4 2626 HP:0009602 Abnormality of thumb phalanx ORPHANET:251071 GATA4 2626 HP:0001824 Weight loss ORPHANET:251071 GATA4 2626 HP:0004383 Hypoplastic left heart ORPHANET:251071 GATA4 2626 HP:0001511 Intrauterine growth retardation ORPHANET:251071 GATA4 2626 HP:0000776 Congenital diaphragmatic hernia ORPHANET:251071 GATA4 2626 HP:0001669 Transposition of the great arteries ORPHANET:251071 GATA4 2626 HP:0000341 Narrow forehead ORPHANET:251071 GATA4 2626 HP:0100627 Displacement of the external urethral meatus ORPHANET:251071 GATA4 2626 HP:0001250 Seizures ORPHANET:251071 GATA4 2626 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:251071 GATA4 2626 HP:0001636 Tetralogy of Fallot ORPHANET:251071 GATA4 2626 HP:0001674 Complete atrioventricular canal defect ORPHANET:251071 GATA4 2626 HP:0001643 Patent ductus arteriosus ORPHANET:251071 GATA4 2626 HP:0001679 Abnormality of the aorta ORPHANET:251071 GATA4 2626 HP:0004322 Short stature ORPHANET:251071 GATA4 2626 HP:0007018 Attention deficit hyperactivity disorder ORPHANET:251071 GATA4 2626 HP:0100543 Cognitive impairment ORPHANET:251071 GATA4 2626 HP:0008572 External ear malformation OMIM:615441 TRDN 10345 HP:0003701 Proximal muscle weakness OMIM:615441 TRDN 10345 HP:0004756 Ventricular tachycardia OMIM:615441 TRDN 10345 HP:0000007 Autosomal recessive inheritance OMIM:612961 FGF9 2254 HP:0001440 Metatarsal synostosis OMIM:612961 FGF9 2254 HP:0003041 Humeroradial synostosis OMIM:612961 FGF9 2254 HP:0002967 Cubitus valgus OMIM:612961 FGF9 2254 HP:0009701 Metacarpal synostosis OMIM:612961 FGF9 2254 HP:0000006 Autosomal dominant inheritance OMIM:213600 SLC20A2 6575 HP:0003676 Progressive disorder OMIM:213600 SLC20A2 6575 HP:0007256 Abnormal pyramidal signs OMIM:213600 SLC20A2 6575 HP:0001300 Parkinsonism OMIM:213600 SLC20A2 6575 HP:0002305 Athetosis OMIM:213600 SLC20A2 6575 HP:0001288 Gait disturbance OMIM:213600 SLC20A2 6575 HP:0001332 Dystonia OMIM:213600 SLC20A2 6575 HP:0000006 Autosomal dominant inheritance OMIM:213600 SLC20A2 6575 HP:0002461 Dense calcifications in the cerebellar dentate nucleus OMIM:213600 SLC20A2 6575 HP:0001268 Mental deterioration OMIM:213600 SLC20A2 6575 HP:0001347 Hyperreflexia OMIM:213600 SLC20A2 6575 HP:0002504 Calcification of the small brain vessels OMIM:213600 SLC20A2 6575 HP:0002072 Chorea OMIM:213600 SLC20A2 6575 HP:0002406 Limb dysmetria OMIM:213600 SLC20A2 6575 HP:0002067 Bradykinesia OMIM:213600 SLC20A2 6575 HP:0002075 Dysdiadochokinesis OMIM:213600 SLC20A2 6575 HP:0003581 Adult onset OMIM:213600 SLC20A2 6575 HP:0002135 Basal ganglia calcification OMIM:213600 SLC20A2 6575 HP:0000298 Mask-like facies OMIM:213600 SLC20A2 6575 HP:0002172 Postural instability OMIM:213600 SLC20A2 6575 HP:0001260 Dysarthria OMIM:213600 SLC20A2 6575 HP:0001337 Tremor OMIM:213600 SLC20A2 6575 HP:0002063 Rigidity OMIM:213600 SLC20A2 6575 HP:0000716 Depression OMIM:213600 SLC20A2 6575 HP:0000020 Urinary incontinence OMIM:213600 SLC20A2 6575 HP:0000709 Psychosis OMIM:213600 SLC20A2 6575 HP:0002354 Memory impairment OMIM:614328 ADAM17 6868 HP:0001880 Eosinophilia OMIM:614328 ADAM17 6868 HP:0000498 Blepharitis OMIM:614328 ADAM17 6868 HP:0010783 Erythema OMIM:614328 ADAM17 6868 HP:0002014 Diarrhea OMIM:614328 ADAM17 6868 HP:0001019 Erythroderma OMIM:614328 ADAM17 6868 HP:0002573 Hematochezia OMIM:614328 ADAM17 6868 HP:0200039 Pustule OMIM:614328 ADAM17 6868 HP:0001805 Thick nail OMIM:614328 ADAM17 6868 HP:0011473 Villous atrophy OMIM:614328 ADAM17 6868 HP:0001818 Paronychia OMIM:614328 ADAM17 6868 HP:0000007 Autosomal recessive inheritance OMIM:613108 CLEC7A 64581 HP:0000007 Autosomal recessive inheritance OMIM:613108 CLEC7A 64581 HP:0012204 Recurrent vulvovaginal candidiasis OMIM:613108 CLEC7A 64581 HP:0012203 Onychomycosis OMIM:615233 RBP3 5949 HP:0001133 Constricted visual fields OMIM:615233 RBP3 5949 HP:0000543 Optic disc pallor OMIM:615233 RBP3 5949 HP:0000662 Night blindness OMIM:615233 RBP3 5949 HP:0007787 Posterior subcapsular cataract OMIM:615233 RBP3 5949 HP:0000603 Central scotoma OMIM:615233 RBP3 5949 HP:0000007 Autosomal recessive inheritance OMIM:615233 RBP3 5949 HP:0000505 Visual impairment OMIM:615233 RBP3 5949 HP:0000510 Retinitis pigmentosa OMIM:217030 CFI 3426 HP:0000007 Autosomal recessive inheritance OMIM:217030 CFI 3426 HP:0001939 Abnormality of metabolism/homeostasis OMIM:217030 CFI 3426 HP:0006946 Recurrent meningitis OMIM:607208 SCN1A 6323 HP:0000006 Autosomal dominant inheritance OMIM:607208 SCN1A 6323 HP:0001263 Global developmental delay OMIM:607208 SCN1A 6323 HP:0006813 Hemiclonic seizures OMIM:607208 SCN1A 6323 HP:0002133 Status epilepticus OMIM:607208 SCN1A 6323 HP:0001270 Motor delay OMIM:607208 SCN1A 6323 HP:0003593 Infantile onset OMIM:607208 SCN1A 6323 HP:0002123 Generalized myoclonic seizures OMIM:607208 SCN1A 6323 HP:0001251 Ataxia OMIM:607208 SCN1A 6323 HP:0002059 Cerebral atrophy OMIM:607208 SCN1A 6323 HP:0002384 Focal seizures with impairment of consciousness or awareness OMIM:607208 SCN1A 6323 HP:0200134 Epileptic encephalopathy OMIM:607208 SCN1A 6323 HP:0002121 Absence seizures OMIM:607208 SCN1A 6323 HP:0001268 Mental deterioration OMIM:607208 SCN1A 6323 HP:0005484 Postnatal microcephaly OMIM:607208 SCN1A 6323 HP:0100704 Cortical visual impairment OMIM:615483 PDGFB 5155 HP:0000739 Anxiety OMIM:615483 PDGFB 5155 HP:0100034 Motor tics OMIM:615483 PDGFB 5155 HP:0000741 Apathy OMIM:615483 PDGFB 5155 HP:0001300 Parkinsonism OMIM:615483 PDGFB 5155 HP:0100660 Dyskinesia OMIM:615483 PDGFB 5155 HP:0000006 Autosomal dominant inheritance OMIM:615483 PDGFB 5155 HP:0002135 Basal ganglia calcification OMIM:615483 PDGFB 5155 HP:0001260 Dysarthria OMIM:615483 PDGFB 5155 HP:0003676 Progressive disorder OMIM:615483 PDGFB 5155 HP:0000726 Dementia OMIM:615483 PDGFB 5155 HP:0000709 Psychosis OMIM:615483 PDGFB 5155 HP:0002305 Athetosis OMIM:615483 PDGFB 5155 HP:0002076 Migraine OMIM:615483 PDGFB 5155 HP:0002072 Chorea OMIM:615483 PDGFB 5155 HP:0002321 Vertigo OMIM:602485 GCK 2645 HP:0000819 Diabetes mellitus OMIM:602485 GCK 2645 HP:0000825 Hyperinsulinemic hypoglycemia OMIM:602485 GCK 2645 HP:0000006 Autosomal dominant inheritance OMIM:602485 GCK 2645 HP:0001249 Intellectual disability OMIM:602485 GCK 2645 HP:0002173 Hypoglycemic seizures OMIM:602485 GCK 2645 HP:0001325 Hypoglycemic coma OMIM:614608 SMARCB1 6598 HP:0001249 Intellectual disability OMIM:614608 SMARCB1 6598 HP:0000696 Delayed eruption of permanent teeth OMIM:614608 SMARCB1 6598 HP:0001250 Seizures OMIM:614608 SMARCB1 6598 HP:0000252 Microcephaly OMIM:614608 SMARCB1 6598 HP:0000006 Autosomal dominant inheritance OMIM:614608 SMARCB1 6598 HP:0011968 Feeding difficulties OMIM:614608 SMARCB1 6598 HP:0001007 Hirsutism OMIM:614608 SMARCB1 6598 HP:0008070 Sparse hair OMIM:614608 SMARCB1 6598 HP:0000527 Long eyelashes OMIM:614608 SMARCB1 6598 HP:0001321 Cerebellar hypoplasia OMIM:614608 SMARCB1 6598 HP:0000574 Thick eyebrow OMIM:136520 PAX6 5080 HP:0000648 Optic atrophy OMIM:136520 PAX6 5080 HP:0000505 Visual impairment OMIM:136520 PAX6 5080 HP:0007440 Generalized hyperpigmentation OMIM:136520 PAX6 5080 HP:0000518 Cataract OMIM:136520 PAX6 5080 HP:0007750 Hypoplasia of the fovea OMIM:136520 PAX6 5080 HP:0000639 Nystagmus OMIM:136520 PAX6 5080 HP:0007819 Presenile cataracts OMIM:136520 PAX6 5080 HP:0000006 Autosomal dominant inheritance OMIM:136520 PAX6 5080 HP:0006934 Congenital nystagmus OMIM:136520 PAX6 5080 HP:0000486 Strabismus OMIM:615431 LRPAP1 4043 HP:0000007 Autosomal recessive inheritance OMIM:615431 LRPAP1 4043 HP:0000505 Visual impairment OMIM:615431 LRPAP1 4043 HP:0007800 Increased axial globe length OMIM:615431 LRPAP1 4043 HP:0011003 Severe Myopia OMIM:616172 STX1B 112755 HP:0002069 Generalized tonic-clonic seizures OMIM:616172 STX1B 112755 HP:0010819 Atonic seizures OMIM:616172 STX1B 112755 HP:0002384 Focal seizures with impairment of consciousness or awareness OMIM:616172 STX1B 112755 HP:0002121 Absence seizures OMIM:616172 STX1B 112755 HP:0001263 Global developmental delay OMIM:612350 SLC39A13 91252 HP:0008848 Moderately short stature OMIM:612350 SLC39A13 91252 HP:0002652 Skeletal dysplasia OMIM:612350 SLC39A13 91252 HP:0003202 Skeletal muscle atrophy OMIM:612350 SLC39A13 91252 HP:0005930 Abnormality of epiphysis morphology OMIM:612350 SLC39A13 91252 HP:0002515 Waddling gait OMIM:612350 SLC39A13 91252 HP:0001388 Joint laxity OMIM:612350 SLC39A13 91252 HP:0000520 Proptosis OMIM:612350 SLC39A13 91252 HP:0000974 Hyperextensible skin OMIM:612350 SLC39A13 91252 HP:0000668 Hypodontia OMIM:612350 SLC39A13 91252 HP:0001763 Pes planus OMIM:612350 SLC39A13 91252 HP:0000494 Downslanted palpebral fissures OMIM:612350 SLC39A13 91252 HP:0000007 Autosomal recessive inheritance OMIM:612350 SLC39A13 91252 HP:0000592 Blue sclerae OMIM:612350 SLC39A13 91252 HP:0100864 Short femoral neck OMIM:612350 SLC39A13 91252 HP:0003301 Irregular vertebral endplates OMIM:612350 SLC39A13 91252 HP:0000963 Thin skin OMIM:612350 SLC39A13 91252 HP:0001371 Flexion contracture OMIM:612350 SLC39A13 91252 HP:0000218 High palate OMIM:612350 SLC39A13 91252 HP:0010489 Absent palmar crease OMIM:612350 SLC39A13 91252 HP:0000926 Platyspondyly OMIM:612350 SLC39A13 91252 HP:0100490 Camptodactyly of finger OMIM:612350 SLC39A13 91252 HP:0000978 Bruising susceptibility OMIM:612350 SLC39A13 91252 HP:0001073 Cigarette-paper scars OMIM:612350 SLC39A13 91252 HP:0010049 Short metacarpal OMIM:612350 SLC39A13 91252 HP:0006429 Broad femoral neck OMIM:612350 SLC39A13 91252 HP:0003370 Flat capital femoral epiphysis OMIM:612350 SLC39A13 91252 HP:0000689 Dental malocclusion OMIM:612350 SLC39A13 91252 HP:0000938 Osteopenia OMIM:612350 SLC39A13 91252 HP:0001182 Tapered finger OMIM:612350 SLC39A13 91252 HP:0000193 Bifid uvula OMIM:612350 SLC39A13 91252 HP:0003016 Metaphyseal widening OMIM:612350 SLC39A13 91252 HP:0000944 Abnormality of the metaphyses OMIM:612350 SLC39A13 91252 HP:0003393 Thenar muscle atrophy OMIM:612350 SLC39A13 91252 HP:0004349 Reduced bone mineral density OMIM:612350 SLC39A13 91252 HP:0009803 Short phalanx of finger OMIM:612350 SLC39A13 91252 HP:0004322 Short stature OMIM:612350 SLC39A13 91252 HP:0000684 Delayed eruption of teeth OMIM:613873 JPH2 57158 HP:0001638 Cardiomyopathy OMIM:613873 JPH2 57158 HP:0004756 Ventricular tachycardia OMIM:613873 JPH2 57158 HP:0000006 Autosomal dominant inheritance OMIM:613873 JPH2 57158 HP:0002094 Dyspnea OMIM:613873 JPH2 57158 HP:0001962 Palpitations OMIM:613873 JPH2 57158 HP:0001712 Left ventricular hypertrophy OMIM:613163 ABAT 18 HP:0006829 Severe muscular hypotonia OMIM:613163 ABAT 18 HP:0002415 Leukodystrophy OMIM:613163 ABAT 18 HP:0001347 Hyperreflexia OMIM:613163 ABAT 18 HP:0001263 Global developmental delay OMIM:613163 ABAT 18 HP:0003819 Death in childhood OMIM:613163 ABAT 18 HP:0001254 Lethargy OMIM:613163 ABAT 18 HP:0001250 Seizures OMIM:613163 ABAT 18 HP:0000007 Autosomal recessive inheritance OMIM:613163 ABAT 18 HP:0000494 Downslanted palpebral fissures OMIM:613163 ABAT 18 HP:0000278 Retrognathia OMIM:613163 ABAT 18 HP:0000098 Tall stature OMIM:613163 ABAT 18 HP:0001321 Cerebellar hypoplasia OMIM:613163 ABAT 18 HP:0007291 Posterior fossa cyst OMIM:613163 ABAT 18 HP:0001274 Agenesis of corpus callosum OMIM:610265 LHFPL5 222662 HP:0000007 Autosomal recessive inheritance OMIM:610265 LHFPL5 222662 HP:0000407 Sensorineural hearing impairment OMIM:314050 GATA1 2623 HP:0001007 Hirsutism OMIM:314050 GATA1 2623 HP:0001928 Abnormality of coagulation OMIM:314050 GATA1 2623 HP:0001744 Splenomegaly OMIM:314050 GATA1 2623 HP:0001878 Hemolytic anemia OMIM:314050 GATA1 2623 HP:0000967 Petechiae OMIM:314050 GATA1 2623 HP:0001873 Thrombocytopenia OMIM:314050 GATA1 2623 HP:0001903 Anemia OMIM:314050 GATA1 2623 HP:0000978 Bruising susceptibility OMIM:314050 GATA1 2623 HP:0010472 Abnormality of the heme biosynthetic pathway OMIM:314050 GATA1 2623 HP:0001419 X-linked recessive inheritance OMIM:314050 GATA1 2623 HP:0003010 Prolonged bleeding time OMIM:314050 GATA1 2623 HP:0001923 Reticulocytosis OMIM:314050 GATA1 2623 HP:0000421 Epistaxis OMIM:169400 LBR 3930 HP:0002007 Frontal bossing OMIM:169400 LBR 3930 HP:0002069 Generalized tonic-clonic seizures OMIM:169400 LBR 3930 HP:0006895 Lower limb hypertonia OMIM:169400 LBR 3930 HP:0001875 Neutropenia OMIM:169400 LBR 3930 HP:0001537 Umbilical hernia OMIM:169400 LBR 3930 HP:0000256 Macrocephaly OMIM:169400 LBR 3930 HP:0000006 Autosomal dominant inheritance OMIM:169400 LBR 3930 HP:0009099 Median cleft palate OMIM:169400 LBR 3930 HP:0000403 Recurrent otitis media OMIM:169400 LBR 3930 HP:0011447 Hyposegmentation of neutrophil nuclei OMIM:169400 LBR 3930 HP:0001249 Intellectual disability OMIM:169400 LBR 3930 HP:0001508 Failure to thrive OMIM:169400 LBR 3930 HP:0009027 Foot dorsiflexor weakness OMIM:169400 LBR 3930 HP:0000486 Strabismus OMIM:169400 LBR 3930 HP:0001873 Thrombocytopenia OMIM:169400 LBR 3930 HP:0010047 Short 5th metacarpal OMIM:169400 LBR 3930 HP:0001629 Ventricular septal defect OMIM:169400 LBR 3930 HP:0000316 Hypertelorism OMIM:169400 LBR 3930 HP:0002395 Lower limb hyperreflexia OMIM:169400 LBR 3930 HP:0002916 Abnormality of chromosome segregation OMIM:169400 LBR 3930 HP:0000964 Eczema OMIM:169400 LBR 3930 HP:0005280 Depressed nasal bridge OMIM:169400 LBR 3930 HP:0001902 Giant platelets OMIM:169400 LBR 3930 HP:0010041 Short 3rd metacarpal OMIM:169400 LBR 3930 HP:0000164 Abnormality of the teeth OMIM:169400 LBR 3930 HP:0009824 Upper limb undergrowth OMIM:169400 LBR 3930 HP:0000212 Gingival overgrowth OMIM:169400 LBR 3930 HP:0010044 Short 4th metacarpal OMIM:169400 LBR 3930 HP:0002808 Kyphosis OMIM:169400 LBR 3930 HP:0001761 Pes cavus OMIM:169400 LBR 3930 HP:0003502 Mild short stature OMIM:612075 RRM2B 50484 HP:0000114 Proximal tubulopathy OMIM:612075 RRM2B 50484 HP:0000544 External ophthalmoplegia OMIM:612075 RRM2B 50484 HP:0003676 Progressive disorder OMIM:612075 RRM2B 50484 HP:0003355 Aminoaciduria OMIM:612075 RRM2B 50484 HP:0001249 Intellectual disability OMIM:612075 RRM2B 50484 HP:0001252 Muscular hypotonia OMIM:612075 RRM2B 50484 HP:0000007 Autosomal recessive inheritance OMIM:612075 RRM2B 50484 HP:0002066 Gait ataxia OMIM:612075 RRM2B 50484 HP:0004326 Cachexia OMIM:612075 RRM2B 50484 HP:0011968 Feeding difficulties OMIM:612075 RRM2B 50484 HP:0001250 Seizures OMIM:612075 RRM2B 50484 HP:0003128 Lactic acidosis OMIM:612075 RRM2B 50484 HP:0001508 Failure to thrive OMIM:612075 RRM2B 50484 HP:0002344 Progressive neurologic deterioration OMIM:601152 MFN2 9927 HP:0001284 Areflexia OMIM:601152 MFN2 9927 HP:0002936 Distal sensory impairment OMIM:601152 MFN2 9927 HP:0003593 Infantile onset OMIM:601152 MFN2 9927 HP:0000603 Central scotoma OMIM:601152 MFN2 9927 HP:0003376 Steppage gait OMIM:601152 MFN2 9927 HP:0003378 Axonal degeneration/regeneration OMIM:601152 MFN2 9927 HP:0003690 Limb muscle weakness OMIM:601152 MFN2 9927 HP:0003693 Distal amyotrophy OMIM:601152 MFN2 9927 HP:0003409 Distal sensory impairment of all modalities OMIM:601152 MFN2 9927 HP:0000007 Autosomal recessive inheritance OMIM:601152 MFN2 9927 HP:0000458 Anosmia OMIM:601152 MFN2 9927 HP:0000543 Optic disc pallor OMIM:601152 MFN2 9927 HP:0002460 Distal muscle weakness OMIM:601152 MFN2 9927 HP:0001761 Pes cavus OMIM:601152 MFN2 9927 HP:0000551 Abnormality of color vision OMIM:601152 MFN2 9927 HP:0002403 Positive Romberg sign OMIM:601152 MFN2 9927 HP:0002938 Lumbar hyperlordosis OMIM:601152 MFN2 9927 HP:0008587 Mild neurosensory hearing impairment OMIM:601152 MFN2 9927 HP:0000006 Autosomal dominant inheritance OMIM:601152 MFN2 9927 HP:0007924 Slow decrease in visual acuity OMIM:601152 MFN2 9927 HP:0002650 Scoliosis OMIM:601152 MFN2 9927 HP:0000641 Dysmetric saccades OMIM:601152 MFN2 9927 HP:0003431 Decreased motor nerve conduction velocity OMIM:601152 MFN2 9927 HP:0000649 Abnormality of vision evoked potentials OMIM:601152 MFN2 9927 HP:0003701 Proximal muscle weakness OMIM:601152 MFN2 9927 HP:0000648 Optic atrophy OMIM:601152 MFN2 9927 HP:0001265 Hyporeflexia OMIM:601152 MFN2 9927 HP:0001604 Vocal cord paresis OMIM:601152 MFN2 9927 HP:0000360 Tinnitus OMIM:614861 TSPEAR 54084 HP:0000007 Autosomal recessive inheritance OMIM:614861 TSPEAR 54084 HP:0000407 Sensorineural hearing impairment OMIM:615828 DEAF1 10522 HP:0001288 Gait disturbance OMIM:615828 DEAF1 10522 HP:0001249 Intellectual disability OMIM:615828 DEAF1 10522 HP:0000817 Poor eye contact OMIM:615828 DEAF1 10522 HP:0000718 Aggressive behavior OMIM:615828 DEAF1 10522 HP:0001263 Global developmental delay OMIM:615828 DEAF1 10522 HP:0000179 Thick lower lip vermilion OMIM:615828 DEAF1 10522 HP:0010804 Tented upper lip vermilion OMIM:615828 DEAF1 10522 HP:0002719 Recurrent infections OMIM:615828 DEAF1 10522 HP:0000960 Sacral dimple OMIM:615828 DEAF1 10522 HP:0000303 Mandibular prognathia OMIM:615828 DEAF1 10522 HP:0000720 Mood swings OMIM:615828 DEAF1 10522 HP:0011228 Horizontal eyebrow OMIM:615330 IBA57 200205 HP:0000252 Microcephaly OMIM:615330 IBA57 200205 HP:0003287 Abnormality of mitochondrial metabolism OMIM:615330 IBA57 200205 HP:0002126 Polymicrogyria OMIM:615330 IBA57 200205 HP:0006610 Wide intermamillary distance OMIM:615330 IBA57 200205 HP:0003577 Congenital onset OMIM:615330 IBA57 200205 HP:0003128 Lactic acidosis OMIM:615330 IBA57 200205 HP:0002079 Hypoplasia of the corpus callosum OMIM:615330 IBA57 200205 HP:0000007 Autosomal recessive inheritance OMIM:615330 IBA57 200205 HP:0000278 Retrognathia OMIM:615330 IBA57 200205 HP:0001298 Encephalopathy OMIM:615330 IBA57 200205 HP:0002804 Arthrogryposis multiplex congenita OMIM:615330 IBA57 200205 HP:0002059 Cerebral atrophy OMIM:615330 IBA57 200205 HP:0006829 Severe muscular hypotonia OMIM:615330 IBA57 200205 HP:0000218 High palate OMIM:615330 IBA57 200205 HP:0001942 Metabolic acidosis OMIM:615330 IBA57 200205 HP:0001511 Intrauterine growth retardation OMIM:615330 IBA57 200205 HP:0001561 Polyhydramnios OMIM:302500 ATP2B3 492 HP:0001260 Dysarthria OMIM:302500 ATP2B3 492 HP:0003680 Nonprogressive disorder OMIM:302500 ATP2B3 492 HP:0001319 Neonatal hypotonia OMIM:302500 ATP2B3 492 HP:0000639 Nystagmus OMIM:302500 ATP2B3 492 HP:0003577 Congenital onset OMIM:302500 ATP2B3 492 HP:0001419 X-linked recessive inheritance OMIM:302500 ATP2B3 492 HP:0002080 Intention tremor OMIM:302500 ATP2B3 492 HP:0000486 Strabismus OMIM:302500 ATP2B3 492 HP:0003621 Juvenile onset OMIM:302500 ATP2B3 492 HP:0001272 Cerebellar atrophy OMIM:302500 ATP2B3 492 HP:0001270 Motor delay OMIM:302500 ATP2B3 492 HP:0001251 Ataxia OMIM:186570 NOG 9241 HP:0003041 Humeroradial synostosis OMIM:186570 NOG 9241 HP:0001156 Brachydactyly syndrome OMIM:186570 NOG 9241 HP:0009466 Radial deviation of finger OMIM:186570 NOG 9241 HP:0000006 Autosomal dominant inheritance OMIM:186570 NOG 9241 HP:0002967 Cubitus valgus OMIM:186570 NOG 9241 HP:0006147 Progressive fusion 2nd-5th pip joints OMIM:186570 NOG 9241 HP:0030084 Clinodactyly OMIM:186570 NOG 9241 HP:0009381 Short finger OMIM:186570 NOG 9241 HP:0006152 Proximal symphalangism (hands) OMIM:186570 NOG 9241 HP:0010034 Short 1st metacarpal OMIM:186570 NOG 9241 HP:0009702 Carpal synostosis OMIM:186570 NOG 9241 HP:0001204 Distal symphalangism (hands) OMIM:186570 NOG 9241 HP:0008368 Tarsal synostosis OMIM:614937 NOL3 8996 HP:0000006 Autosomal dominant inheritance OMIM:614937 NOL3 8996 HP:0003581 Adult onset OMIM:614937 NOL3 8996 HP:0003677 Slow progression OMIM:614937 NOL3 8996 HP:0001336 Myoclonus OMIM:614937 NOL3 8996 HP:0002527 Falls OMIM:608091 TMEM216 51259 HP:0100951 Enlarged fossa interpeduncularis OMIM:608091 TMEM216 51259 HP:0000256 Macrocephaly OMIM:608091 TMEM216 51259 HP:0000238 Hydrocephalus OMIM:608091 TMEM216 51259 HP:0000570 Abnormality of saccadic eye movements OMIM:608091 TMEM216 51259 HP:0000639 Nystagmus OMIM:608091 TMEM216 51259 HP:0000657 Oculomotor apraxia OMIM:608091 TMEM216 51259 HP:0000568 Microphthalmos OMIM:608091 TMEM216 51259 HP:0000588 Optic nerve coloboma OMIM:608091 TMEM216 51259 HP:0002876 Episodic tachypnea OMIM:608091 TMEM216 51259 HP:0002195 Dysgenesis of the cerebellar vermis OMIM:608091 TMEM216 51259 HP:0002335 Agenesis of cerebellar vermis OMIM:608091 TMEM216 51259 HP:0000218 High palate OMIM:608091 TMEM216 51259 HP:0001251 Ataxia OMIM:608091 TMEM216 51259 HP:0003812 Phenotypic variability OMIM:608091 TMEM216 51259 HP:0012211 Abnormal renal physiology OMIM:608091 TMEM216 51259 HP:0002508 Brainstem dysplasia OMIM:608091 TMEM216 51259 HP:0002871 Central apnea OMIM:608091 TMEM216 51259 HP:0001252 Muscular hypotonia OMIM:608091 TMEM216 51259 HP:0000268 Dolichocephaly OMIM:608091 TMEM216 51259 HP:0000050 Hypoplastic male external genitalia OMIM:608091 TMEM216 51259 HP:0000369 Low-set ears OMIM:608091 TMEM216 51259 HP:0007772 Impaired smooth pursuit OMIM:608091 TMEM216 51259 HP:0001425 Heterogeneous OMIM:608091 TMEM216 51259 HP:0001273 Abnormality of the corpus callosum OMIM:608091 TMEM216 51259 HP:0000007 Autosomal recessive inheritance OMIM:608091 TMEM216 51259 HP:0000090 Nephronophthisis OMIM:608091 TMEM216 51259 HP:0001760 Abnormality of the foot OMIM:608091 TMEM216 51259 HP:0002365 Hypoplasia of the brainstem OMIM:608091 TMEM216 51259 HP:0001263 Global developmental delay OMIM:608091 TMEM216 51259 HP:0005280 Depressed nasal bridge OMIM:608091 TMEM216 51259 HP:0001162 Postaxial hand polydactyly OMIM:608091 TMEM216 51259 HP:0000565 Esotropia OMIM:608091 TMEM216 51259 HP:0002790 Neonatal breathing dysregulation OMIM:608091 TMEM216 51259 HP:0002404 Thickened superior cerebellar peduncle OMIM:608091 TMEM216 51259 HP:0000316 Hypertelorism OMIM:608091 TMEM216 51259 HP:0000107 Renal cyst OMIM:608091 TMEM216 51259 HP:0000567 Chorioretinal coloboma OMIM:608091 TMEM216 51259 HP:0000556 Retinal dystrophy OMIM:608091 TMEM216 51259 HP:0002419 Molar tooth sign on MRI OMIM:608091 TMEM216 51259 HP:0002084 Encephalocele OMIM:608091 TMEM216 51259 HP:0001508 Failure to thrive OMIM:608091 TMEM216 51259 HP:0002007 Frontal bossing OMIM:608091 TMEM216 51259 HP:0001249 Intellectual disability OMIM:608091 TMEM216 51259 HP:0000505 Visual impairment OMIM:608091 TMEM216 51259 HP:0011933 Elongated superior cerebellar peduncle OMIM:182940 FUZ 80199 HP:0008482 Asymmetry of spinal facet joints OMIM:182940 FUZ 80199 HP:0000020 Urinary incontinence OMIM:182940 FUZ 80199 HP:0000006 Autosomal dominant inheritance OMIM:182940 FUZ 80199 HP:0003298 Spina bifida occulta OMIM:182940 FUZ 80199 HP:0000238 Hydrocephalus OMIM:182940 FUZ 80199 HP:0001012 Multiple lipomas OMIM:182940 FUZ 80199 HP:0002323 Anencephaly OMIM:182940 FUZ 80199 HP:0002475 Myelomeningocele OMIM:182940 VANGL1 81839 HP:0008482 Asymmetry of spinal facet joints OMIM:182940 VANGL1 81839 HP:0000020 Urinary incontinence OMIM:182940 VANGL1 81839 HP:0000006 Autosomal dominant inheritance OMIM:182940 VANGL1 81839 HP:0003298 Spina bifida occulta OMIM:182940 VANGL1 81839 HP:0000238 Hydrocephalus OMIM:182940 VANGL1 81839 HP:0001012 Multiple lipomas OMIM:182940 VANGL1 81839 HP:0002323 Anencephaly OMIM:182940 VANGL1 81839 HP:0002475 Myelomeningocele OMIM:182940 VANGL2 57216 HP:0008482 Asymmetry of spinal facet joints OMIM:182940 VANGL2 57216 HP:0000020 Urinary incontinence OMIM:182940 VANGL2 57216 HP:0000006 Autosomal dominant inheritance OMIM:182940 VANGL2 57216 HP:0003298 Spina bifida occulta OMIM:182940 VANGL2 57216 HP:0000238 Hydrocephalus OMIM:182940 VANGL2 57216 HP:0001012 Multiple lipomas OMIM:182940 VANGL2 57216 HP:0002323 Anencephaly OMIM:182940 VANGL2 57216 HP:0002475 Myelomeningocele OMIM:128100 TOR1A 1861 HP:0002356 Writer's cramp OMIM:128100 TOR1A 1861 HP:0003307 Hyperlordosis OMIM:128100 TOR1A 1861 HP:0001252 Muscular hypotonia OMIM:128100 TOR1A 1861 HP:0002650 Scoliosis OMIM:128100 TOR1A 1861 HP:0002808 Kyphosis OMIM:128100 TOR1A 1861 HP:0000006 Autosomal dominant inheritance OMIM:128100 TOR1A 1861 HP:0000473 Torticollis OMIM:128100 TOR1A 1861 HP:0002533 Abnormal posturing OMIM:128100 TOR1A 1861 HP:0001304 Torsion dystonia OMIM:128100 TOR1A 1861 HP:0001276 Hypertonia OMIM:128100 TOR1A 1861 HP:0003829 Incomplete penetrance OMIM:128100 TOR1A 1861 HP:0001260 Dysarthria OMIM:128100 TOR1A 1861 HP:0001337 Tremor OMIM:128100 TOR1A 1861 HP:0000643 Blepharospasm OMIM:309800 NAA10 8260 HP:0000611 Choroid coloboma OMIM:309800 NAA10 8260 HP:0000678 Dental crowding OMIM:309800 NAA10 8260 HP:0001159 Syndactyly OMIM:309800 NAA10 8260 HP:0000894 Short clavicles OMIM:309800 NAA10 8260 HP:0000568 Microphthalmos OMIM:309800 NAA10 8260 HP:0000377 Abnormality of the pinna OMIM:309800 NAA10 8260 HP:0008678 Renal hypoplasia/aplasia OMIM:309800 NAA10 8260 HP:0030084 Clinodactyly OMIM:309800 NAA10 8260 HP:0001249 Intellectual disability OMIM:309800 NAA10 8260 HP:0000072 Hydroureter OMIM:309800 NAA10 8260 HP:0002021 Pyloric stenosis OMIM:309800 NAA10 8260 HP:0002751 Kyphoscoliosis OMIM:309800 NAA10 8260 HP:0001018 Abnormal palmar dermatoglyphics OMIM:309800 NAA10 8260 HP:0002023 Anal atresia OMIM:309800 NAA10 8260 HP:0000528 Anophthalmia OMIM:309800 NAA10 8260 HP:0002251 Aganglionic megacolon OMIM:309800 NAA10 8260 HP:0002035 Rectal prolapse OMIM:309800 NAA10 8260 HP:0000396 Overfolded helix OMIM:309800 NAA10 8260 HP:0000612 Iris coloboma OMIM:309800 NAA10 8260 HP:0000369 Low-set ears OMIM:309800 NAA10 8260 HP:0002938 Lumbar hyperlordosis OMIM:309800 NAA10 8260 HP:0200021 Down-sloping shoulders OMIM:309800 NAA10 8260 HP:0000204 Cleft upper lip OMIM:309800 NAA10 8260 HP:0000618 Blindness OMIM:309800 NAA10 8260 HP:0009473 Joint contracture of the hand OMIM:309800 NAA10 8260 HP:0000252 Microcephaly OMIM:309800 NAA10 8260 HP:0001250 Seizures OMIM:309800 NAA10 8260 HP:0000767 Pectus excavatum OMIM:309800 NAA10 8260 HP:0002089 Pulmonary hypoplasia OMIM:309800 NAA10 8260 HP:0001647 Bicuspid aortic valve OMIM:309800 NAA10 8260 HP:0000047 Hypospadias OMIM:309800 NAA10 8260 HP:0000403 Recurrent otitis media OMIM:309800 NAA10 8260 HP:0000465 Webbed neck OMIM:309800 NAA10 8260 HP:0001417 X-linked inheritance OMIM:309800 NAA10 8260 HP:0012385 Camptodactyly OMIM:309800 NAA10 8260 HP:0000089 Renal hypoplasia OMIM:309800 NAA10 8260 HP:0000365 Hearing impairment OMIM:309800 NAA10 8260 HP:0000774 Narrow chest OMIM:309800 NAA10 8260 HP:0000508 Ptosis OMIM:309800 NAA10 8260 HP:0001264 Spastic diplegia OMIM:309800 NAA10 8260 HP:0000588 Optic nerve coloboma OMIM:309800 NAA10 8260 HP:0000729 Autistic behavior OMIM:309800 NAA10 8260 HP:0009466 Radial deviation of finger OMIM:309800 NAA10 8260 HP:0001270 Motor delay OMIM:309800 NAA10 8260 HP:0000690 Agenesis of maxillary lateral incisor OMIM:309800 NAA10 8260 HP:0000028 Cryptorchidism OMIM:309800 NAA10 8260 HP:0001252 Muscular hypotonia OMIM:309800 NAA10 8260 HP:0000202 Oral cleft OMIM:309800 NAA10 8260 HP:0000718 Aggressive behavior OMIM:309800 NAA10 8260 HP:0000218 High palate OMIM:309800 NAA10 8260 HP:0001510 Growth delay OMIM:309800 NAA10 8260 HP:0000482 Microcornea OMIM:309800 NAA10 8260 HP:0000742 Self-mutilation OMIM:277580 EDNRB 1910 HP:0002227 White eyelashes OMIM:277580 EDNRB 1910 HP:0002313 Spastic paraparesis OMIM:277580 EDNRB 1910 HP:0001425 Heterogeneous OMIM:277580 EDNRB 1910 HP:0000639 Nystagmus OMIM:277580 EDNRB 1910 HP:0001251 Ataxia OMIM:277580 EDNRB 1910 HP:0001100 Heterochromia iridis OMIM:277580 EDNRB 1910 HP:0001252 Muscular hypotonia OMIM:277580 EDNRB 1910 HP:0002415 Leukodystrophy OMIM:277580 EDNRB 1910 HP:0000006 Autosomal dominant inheritance OMIM:277580 EDNRB 1910 HP:0002271 Autonomic dysregulation OMIM:277580 EDNRB 1910 HP:0000407 Sensorineural hearing impairment OMIM:277580 EDNRB 1910 HP:0001271 Polyneuropathy OMIM:277580 EDNRB 1910 HP:0000007 Autosomal recessive inheritance OMIM:277580 EDNRB 1910 HP:0001263 Global developmental delay OMIM:277580 EDNRB 1910 HP:0002216 Premature graying of hair OMIM:277580 EDNRB 1910 HP:0001053 Hypopigmented skin patches OMIM:277580 EDNRB 1910 HP:0000635 Blue irides OMIM:277580 EDNRB 1910 HP:0002226 White eyebrow OMIM:277580 EDNRB 1910 HP:0002211 White forelock OMIM:277580 EDNRB 1910 HP:0002251 Aganglionic megacolon OMIM:309850 MAOA 4128 HP:0008760 Violent behavior OMIM:309850 MAOA 4128 HP:0001417 X-linked inheritance OMIM:309850 MAOA 4128 HP:0100710 Impulsivity OMIM:309850 MAOA 4128 HP:0000718 Aggressive behavior OMIM:309850 MAOA 4128 HP:0001256 Intellectual disability, mild OMIM:610333 RNASEH2A 10535 HP:0002240 Hepatomegaly OMIM:610333 RNASEH2A 10535 HP:0002910 Elevated hepatic transaminases OMIM:610333 RNASEH2A 10535 HP:0000238 Hydrocephalus OMIM:610333 RNASEH2A 10535 HP:0011344 Severe global developmental delay OMIM:610333 RNASEH2A 10535 HP:0002514 Cerebral calcification OMIM:610333 RNASEH2A 10535 HP:0002119 Ventriculomegaly OMIM:610333 RNASEH2A 10535 HP:0001257 Spasticity OMIM:610333 RNASEH2A 10535 HP:0001744 Splenomegaly OMIM:610333 RNASEH2A 10535 HP:0000369 Low-set ears OMIM:610333 RNASEH2A 10535 HP:0000444 Convex nasal ridge OMIM:610333 RNASEH2A 10535 HP:0001873 Thrombocytopenia OMIM:610333 RNASEH2A 10535 HP:0011968 Feeding difficulties OMIM:610333 RNASEH2A 10535 HP:0200149 CSF lymphocytic pleiocytosis OMIM:610333 RNASEH2A 10535 HP:0000253 Progressive microcephaly OMIM:610333 RNASEH2A 10535 HP:0002059 Cerebral atrophy OMIM:610333 RNASEH2A 10535 HP:0001332 Dystonia OMIM:610333 RNASEH2A 10535 HP:0001433 Hepatosplenomegaly OMIM:610333 RNASEH2A 10535 HP:0000007 Autosomal recessive inheritance OMIM:610333 RNASEH2A 10535 HP:0001272 Cerebellar atrophy OMIM:610333 RNASEH2A 10535 HP:0002415 Leukodystrophy OMIM:610333 RNASEH2A 10535 HP:0001876 Pancytopenia OMIM:610333 RNASEH2A 10535 HP:0001511 Intrauterine growth retardation OMIM:610333 RNASEH2A 10535 HP:0003819 Death in childhood OMIM:610333 RNASEH2A 10535 HP:0003593 Infantile onset OMIM:612076 SLC2A9 56606 HP:0000006 Autosomal dominant inheritance OMIM:612076 SLC2A9 56606 HP:0003537 Hypouricemia OMIM:133190 ELOVL4 6785 HP:0002167 Neurological speech impairment OMIM:133190 ELOVL4 6785 HP:0000958 Dry skin OMIM:133190 ELOVL4 6785 HP:0002311 Incoordination OMIM:133190 ELOVL4 6785 HP:0002080 Intention tremor OMIM:133190 ELOVL4 6785 HP:0002075 Dysdiadochokinesis OMIM:133190 ELOVL4 6785 HP:0001265 Hyporeflexia OMIM:133190 ELOVL4 6785 HP:0002066 Gait ataxia OMIM:133190 ELOVL4 6785 HP:0001288 Gait disturbance OMIM:133190 ELOVL4 6785 HP:0001272 Cerebellar atrophy OMIM:133190 ELOVL4 6785 HP:0000006 Autosomal dominant inheritance OMIM:133190 ELOVL4 6785 HP:0000486 Strabismus OMIM:133190 ELOVL4 6785 HP:0001034 Hypermelanotic macule OMIM:133190 ELOVL4 6785 HP:0001260 Dysarthria OMIM:133190 ELOVL4 6785 HP:0002380 Fasciculations OMIM:133190 ELOVL4 6785 HP:0000324 Facial asymmetry OMIM:133190 ELOVL4 6785 HP:0000639 Nystagmus OMIM:133190 ELOVL4 6785 HP:0003011 Abnormality of the musculature OMIM:133190 ELOVL4 6785 HP:0000962 Hyperkeratosis OMIM:133190 ELOVL4 6785 HP:0001025 Urticaria OMIM:133190 ELOVL4 6785 HP:0001315 Reduced tendon reflexes OMIM:133190 ELOVL4 6785 HP:0000966 Hypohidrosis ORPHANET:85198 COL2A1 1280 HP:0100777 Exostoses ORPHANET:85198 COL2A1 1280 HP:0004322 Short stature ORPHANET:85198 COL2A1 1280 HP:0002750 Delayed skeletal maturation ORPHANET:85198 COL2A1 1280 HP:0003422 Vertebral segmentation defect ORPHANET:85198 COL2A1 1280 HP:0002991 Abnormality of the fibula ORPHANET:85198 COL2A1 1280 HP:0002650 Scoliosis ORPHANET:85198 COL2A1 1280 HP:0002758 Osteoarthritis ORPHANET:85198 COL2A1 1280 HP:0002857 Genu valgum ORPHANET:85198 COL2A1 1280 HP:0002652 Skeletal dysplasia ORPHANET:85198 COL2A1 1280 HP:0100543 Cognitive impairment ORPHANET:85198 COL2A1 1280 HP:0002514 Cerebral calcification ORPHANET:85198 COL2A1 1280 HP:0000926 Platyspondyly ORPHANET:85198 COL2A1 1280 HP:0000951 Abnormality of the skin ORPHANET:85198 COL2A1 1280 HP:0100559 Lower limb asymmetry ORPHANET:85198 COL2A1 1280 HP:0002997 Abnormality of the ulna OMIM:178300 ZFHX4 79776 HP:0007970 Congenital ptosis OMIM:178300 ZFHX4 79776 HP:0000006 Autosomal dominant inheritance OMIM:266920 IFT140 9742 HP:0001395 Hepatic fibrosis OMIM:266920 IFT140 9742 HP:0001903 Anemia OMIM:266920 IFT140 9742 HP:0000007 Autosomal recessive inheritance OMIM:266920 IFT140 9742 HP:0000252 Microcephaly OMIM:266920 IFT140 9742 HP:0000773 Short ribs OMIM:266920 IFT140 9742 HP:0100864 Short femoral neck OMIM:266920 IFT140 9742 HP:0000572 Visual loss OMIM:266920 IFT140 9742 HP:0000090 Nephronophthisis OMIM:266920 IFT140 9742 HP:0003090 Hypoplasia of the capital femoral epiphysis OMIM:266920 IFT140 9742 HP:0001251 Ataxia OMIM:266920 IFT140 9742 HP:0003593 Infantile onset OMIM:266920 IFT140 9742 HP:0000639 Nystagmus OMIM:266920 IFT140 9742 HP:0002240 Hepatomegaly OMIM:266920 IFT140 9742 HP:0003774 Stage 5 chronic kidney disease OMIM:266920 IFT140 9742 HP:0000510 Retinitis pigmentosa OMIM:266920 IFT140 9742 HP:0001363 Craniosynostosis OMIM:266920 IFT140 9742 HP:0004322 Short stature OMIM:266920 IFT140 9742 HP:0100543 Cognitive impairment OMIM:266920 IFT140 9742 HP:0010579 Cone-shaped epiphysis OMIM:266920 IFT140 9742 HP:0001396 Cholestasis OMIM:266920 IFT140 9742 HP:0009803 Short phalanx of finger OMIM:266920 IFT140 9742 HP:0000112 Nephropathy OMIM:266920 IFT140 9742 HP:0000107 Renal cyst OMIM:266920 IFT140 9742 HP:0000110 Renal dysplasia OMIM:612650 RSPH9 221421 HP:0002205 Recurrent respiratory infections OMIM:612650 RSPH9 221421 HP:0011109 Chronic sinusitis OMIM:612650 RSPH9 221421 HP:0004322 Short stature OMIM:612650 RSPH9 221421 HP:0012208 Nonmotile sperm OMIM:612650 RSPH9 221421 HP:0002257 Chronic rhinitis OMIM:612650 RSPH9 221421 HP:0003546 Exercise intolerance OMIM:612650 RSPH9 221421 HP:0012265 Ciliary dyskinesia OMIM:612650 RSPH9 221421 HP:0012260 Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612650 RSPH9 221421 HP:0002110 Bronchiectasis OMIM:612650 RSPH9 221421 HP:0000007 Autosomal recessive inheritance OMIM:614756 CAMTA1 23261 HP:0002003 Large forehead OMIM:614756 CAMTA1 23261 HP:0001319 Neonatal hypotonia OMIM:614756 CAMTA1 23261 HP:0000486 Strabismus OMIM:614756 CAMTA1 23261 HP:0000006 Autosomal dominant inheritance OMIM:614756 CAMTA1 23261 HP:0000463 Anteverted nares OMIM:614756 CAMTA1 23261 HP:0000307 Pointed chin OMIM:614756 CAMTA1 23261 HP:0000414 Bulbous nose OMIM:614756 CAMTA1 23261 HP:0000750 Delayed speech and language development OMIM:614756 CAMTA1 23261 HP:0100540 Palpebral edema OMIM:614756 CAMTA1 23261 HP:0001263 Global developmental delay OMIM:614756 CAMTA1 23261 HP:0001256 Intellectual disability, mild OMIM:614756 CAMTA1 23261 HP:0000160 Narrow mouth OMIM:614756 CAMTA1 23261 HP:0400005 Short ear OMIM:614756 CAMTA1 23261 HP:0000276 Long face OMIM:614756 CAMTA1 23261 HP:0000179 Thick lower lip vermilion OMIM:614756 CAMTA1 23261 HP:0000343 Long philtrum OMIM:614756 CAMTA1 23261 HP:0001260 Dysarthria OMIM:614756 CAMTA1 23261 HP:0002317 Unsteady gait OMIM:614756 CAMTA1 23261 HP:0001321 Cerebellar hypoplasia OMIM:614756 CAMTA1 23261 HP:0001310 Dysmetria OMIM:616165 LMOD3 56203 HP:0002804 Arthrogryposis multiplex congenita OMIM:616165 LMOD3 56203 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:616165 LMOD3 56203 HP:0006829 Severe muscular hypotonia OMIM:616165 LMOD3 56203 HP:0001622 Premature birth OMIM:616165 LMOD3 56203 HP:0001283 Bulbar palsy OMIM:616165 LMOD3 56203 HP:0001558 Decreased fetal movement OMIM:616165 LMOD3 56203 HP:0001561 Polyhydramnios OMIM:616165 LMOD3 56203 HP:0003202 Skeletal muscle atrophy OMIM:616165 LMOD3 56203 HP:0010628 Facial palsy OMIM:616165 LMOD3 56203 HP:0000602 Ophthalmoplegia OMIM:614736 NNT 23530 HP:0001943 Hypoglycemia OMIM:614736 NNT 23530 HP:0001508 Failure to thrive OMIM:614736 NNT 23530 HP:0000007 Autosomal recessive inheritance OMIM:614340 LINS 55180 HP:0002465 Poor speech OMIM:614340 LINS 55180 HP:0000007 Autosomal recessive inheritance OMIM:614340 LINS 55180 HP:0001510 Growth delay OMIM:614340 LINS 55180 HP:0000252 Microcephaly OMIM:614340 LINS 55180 HP:0001347 Hyperreflexia OMIM:614340 LINS 55180 HP:0005280 Depressed nasal bridge OMIM:614340 LINS 55180 HP:0011800 Midface retrusion OMIM:614340 LINS 55180 HP:0001252 Muscular hypotonia OMIM:614340 LINS 55180 HP:0001249 Intellectual disability OMIM:614340 LINS 55180 HP:0001263 Global developmental delay OMIM:614340 LINS 55180 HP:0000718 Aggressive behavior OMIM:223360 DBH 1621 HP:0012877 Retrograde ejaculation OMIM:223360 DBH 1621 HP:0005964 Intermittent hypothermia OMIM:223360 DBH 1621 HP:0001998 Neonatal hypoglycemia OMIM:223360 DBH 1621 HP:0000508 Ptosis OMIM:223360 DBH 1621 HP:0000218 High palate OMIM:223360 DBH 1621 HP:0001250 Seizures OMIM:223360 DBH 1621 HP:0000007 Autosomal recessive inheritance OMIM:223360 DBH 1621 HP:0000017 Nocturia OMIM:223360 DBH 1621 HP:0001278 Orthostatic hypotension OMIM:174050 PRKCSH 5589 HP:0000107 Renal cyst OMIM:174050 PRKCSH 5589 HP:0002617 Aneurysm OMIM:174050 PRKCSH 5589 HP:0001626 Abnormality of the cardiovascular system OMIM:174050 PRKCSH 5589 HP:0008872 Feeding difficulties in infancy OMIM:174050 PRKCSH 5589 HP:0003573 Increased total bilirubin OMIM:174050 PRKCSH 5589 HP:0003270 Abdominal distention OMIM:174050 PRKCSH 5589 HP:0001541 Ascites OMIM:174050 PRKCSH 5589 HP:0002093 Respiratory insufficiency OMIM:174050 PRKCSH 5589 HP:0000707 Abnormality of the nervous system OMIM:174050 PRKCSH 5589 HP:0002027 Abdominal pain OMIM:174050 PRKCSH 5589 HP:0000006 Autosomal dominant inheritance OMIM:174050 PRKCSH 5589 HP:0001732 Abnormality of the pancreas OMIM:174050 PRKCSH 5589 HP:0002240 Hepatomegaly OMIM:174050 PRKCSH 5589 HP:0003155 Elevated alkaline phosphatase OMIM:174050 PRKCSH 5589 HP:0000113 Polycystic kidney dysplasia OMIM:174050 PRKCSH 5589 HP:0002239 Gastrointestinal hemorrhage OMIM:174050 PRKCSH 5589 HP:0003418 Back pain OMIM:174050 PRKCSH 5589 HP:0006557 Polycystic liver disease OMIM:174050 SEC63 11231 HP:0000107 Renal cyst OMIM:174050 SEC63 11231 HP:0002617 Aneurysm OMIM:174050 SEC63 11231 HP:0001626 Abnormality of the cardiovascular system OMIM:174050 SEC63 11231 HP:0008872 Feeding difficulties in infancy OMIM:174050 SEC63 11231 HP:0003573 Increased total bilirubin OMIM:174050 SEC63 11231 HP:0003270 Abdominal distention OMIM:174050 SEC63 11231 HP:0001541 Ascites OMIM:174050 SEC63 11231 HP:0002093 Respiratory insufficiency OMIM:174050 SEC63 11231 HP:0000707 Abnormality of the nervous system OMIM:174050 SEC63 11231 HP:0002027 Abdominal pain OMIM:174050 SEC63 11231 HP:0000006 Autosomal dominant inheritance OMIM:174050 SEC63 11231 HP:0001732 Abnormality of the pancreas OMIM:174050 SEC63 11231 HP:0002240 Hepatomegaly OMIM:174050 SEC63 11231 HP:0003155 Elevated alkaline phosphatase OMIM:174050 SEC63 11231 HP:0000113 Polycystic kidney dysplasia OMIM:174050 SEC63 11231 HP:0002239 Gastrointestinal hemorrhage OMIM:174050 SEC63 11231 HP:0003418 Back pain OMIM:174050 SEC63 11231 HP:0006557 Polycystic liver disease OMIM:241500 ALPL 249 HP:0000164 Abnormality of the teeth OMIM:241500 ALPL 249 HP:0001608 Abnormality of the voice OMIM:241500 ALPL 249 HP:0002170 Intracranial hemorrhage OMIM:241500 ALPL 249 HP:0002979 Bowing of the legs OMIM:241500 ALPL 249 HP:0001561 Polyhydramnios OMIM:241500 ALPL 249 HP:0004492 Widely patent fontanelles and sutures OMIM:241500 ALPL 249 HP:0003826 Stillbirth OMIM:241500 ALPL 249 HP:0000737 Irritability OMIM:241500 ALPL 249 HP:0001522 Death in infancy OMIM:241500 ALPL 249 HP:0001250 Seizures OMIM:241500 ALPL 249 HP:0000007 Autosomal recessive inheritance OMIM:241500 ALPL 249 HP:0002013 Vomiting OMIM:241500 ALPL 249 HP:0002104 Apnea OMIM:241500 ALPL 249 HP:0001024 Skin dimple over apex of long bone angulation OMIM:241500 ALPL 249 HP:0000926 Platyspondyly OMIM:241500 ALPL 249 HP:0001363 Craniosynostosis OMIM:241500 ALPL 249 HP:0001508 Failure to thrive OMIM:241500 ALPL 249 HP:0000592 Blue sclerae OMIM:241500 ALPL 249 HP:0001252 Muscular hypotonia OMIM:241500 ALPL 249 HP:0003021 Metaphyseal cupping OMIM:241500 ALPL 249 HP:0002039 Anorexia OMIM:241500 ALPL 249 HP:0002150 Hypercalciuria OMIM:241500 ALPL 249 HP:0006385 Short lower limbs OMIM:241500 ALPL 249 HP:0000121 Nephrocalcinosis OMIM:241500 ALPL 249 HP:0001903 Anemia OMIM:241500 ALPL 249 HP:0008428 Vertebral clefting OMIM:241500 ALPL 249 HP:0003491 Elevated urine pyrophosphate OMIM:241500 ALPL 249 HP:0008873 Disproportionate short-limb short stature OMIM:241500 ALPL 249 HP:0002019 Constipation OMIM:241500 ALPL 249 HP:0003239 Phosphoethanolaminuria OMIM:241500 ALPL 249 HP:0001945 Fever OMIM:241500 ALPL 249 HP:0004606 Unossified vertebral bodies OMIM:241500 ALPL 249 HP:0002205 Recurrent respiratory infections OMIM:241500 ALPL 249 HP:0003072 Hypercalcemia OMIM:241500 ALPL 249 HP:0002983 Micromelia OMIM:241500 ALPL 249 HP:0000897 Rachitic rosary OMIM:241500 ALPL 249 HP:0005474 Decreased calvarial ossification OMIM:241500 ALPL 249 HP:0011864 Elevated plasma pyrophosphate OMIM:241500 ALPL 249 HP:0002659 Increased susceptibility to fractures OMIM:241500 ALPL 249 HP:0000773 Short ribs OMIM:202010 CYP11B1 1584 HP:0002924 Decreased circulating aldosterone level OMIM:202010 CYP11B1 1584 HP:0000007 Autosomal recessive inheritance OMIM:202010 CYP11B1 1584 HP:0000061 Ambiguous genitalia, female OMIM:202010 CYP11B1 1584 HP:0003351 Decreased circulating renin level OMIM:202010 CYP11B1 1584 HP:0000013 Hypoplasia of the uterus OMIM:202010 CYP11B1 1584 HP:0003623 Neonatal onset OMIM:202010 CYP11B1 1584 HP:0002900 Hypokalemia OMIM:202010 CYP11B1 1584 HP:0005616 Accelerated skeletal maturation OMIM:202010 CYP11B1 1584 HP:0000822 Hypertension OMIM:202010 CYP11B1 1584 HP:0000040 Long penis OMIM:202010 CYP11B1 1584 HP:0000840 Adrenogenital syndrome OMIM:202010 CYP11B1 1584 HP:0008185 Precocious puberty in males OMIM:202010 CYP11B1 1584 HP:0008734 Decreased testicular size OMIM:202010 CYP11B1 1584 HP:0004322 Short stature OMIM:202010 CYP11B1 1584 HP:0008258 Congenital adrenal hyperplasia OMIM:202010 CYP11B1 1584 HP:0008726 Hypoplasia of the vagina OMIM:202010 CYP11B1 1584 HP:0000953 Hyperpigmentation of the skin OMIM:202010 CYP11B1 1584 HP:0000057 Clitoromegaly OMIM:202010 CYP11B1 1584 HP:0000079 Abnormality of the urinary system OMIM:613205 LMNA 4000 HP:0003028 Abnormality of the ankles OMIM:613205 LMNA 4000 HP:0002093 Respiratory insufficiency OMIM:613205 LMNA 4000 HP:0003202 Skeletal muscle atrophy OMIM:613205 LMNA 4000 HP:0003307 Hyperlordosis OMIM:613205 LMNA 4000 HP:0003306 Spinal rigidity OMIM:613205 LMNA 4000 HP:0000006 Autosomal dominant inheritance OMIM:613205 LMNA 4000 HP:0001371 Flexion contracture OMIM:613205 LMNA 4000 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:613205 LMNA 4000 HP:0003828 Variable expressivity OMIM:613205 LMNA 4000 HP:0002376 Developmental regression OMIM:613205 LMNA 4000 HP:0001883 Talipes OMIM:613205 LMNA 4000 HP:0003676 Progressive disorder OMIM:613205 LMNA 4000 HP:0011675 Arrhythmia OMIM:613205 LMNA 4000 HP:0003700 Generalized amyotrophy OMIM:613205 LMNA 4000 HP:0003198 Myopathy OMIM:613205 LMNA 4000 HP:0001557 Prenatal movement abnormality OMIM:613205 LMNA 4000 HP:0001508 Failure to thrive OMIM:613205 LMNA 4000 HP:0003741 Congenital muscular dystrophy OMIM:613205 LMNA 4000 HP:0000774 Narrow chest OMIM:613205 LMNA 4000 HP:0001324 Muscle weakness OMIM:613205 LMNA 4000 HP:0000464 Abnormality of the neck OMIM:613205 LMNA 4000 HP:0003457 EMG abnormality OMIM:613205 LMNA 4000 HP:0004325 Decreased body weight OMIM:613205 LMNA 4000 HP:0001558 Decreased fetal movement OMIM:613205 LMNA 4000 HP:0100543 Cognitive impairment OMIM:613205 LMNA 4000 HP:0001382 Joint hypermobility OMIM:613205 LMNA 4000 HP:0001252 Muscular hypotonia OMIM:613205 LMNA 4000 HP:0001635 Congestive heart failure OMIM:613205 LMNA 4000 HP:0003236 Elevated serum creatine phosphokinase OMIM:613205 LMNA 4000 HP:0000467 Neck muscle weakness OMIM:613205 LMNA 4000 HP:0001270 Motor delay OMIM:613205 LMNA 4000 HP:0001376 Limitation of joint mobility OMIM:613205 LMNA 4000 HP:0001288 Gait disturbance OMIM:613205 LMNA 4000 HP:0006829 Severe muscular hypotonia OMIM:612567 IL10RB 3588 HP:0004387 Enterocolitis OMIM:612567 IL10RB 3588 HP:0000143 Rectovaginal fistula OMIM:612567 IL10RB 3588 HP:0005224 Rectal abscess OMIM:612567 IL10RB 3588 HP:0000007 Autosomal recessive inheritance OMIM:612567 IL10RB 3588 HP:0009789 Perianal abscess OMIM:615382 ANKS6 203286 HP:0001696 Situs inversus totalis OMIM:615382 ANKS6 203286 HP:0001642 Pulmonic stenosis OMIM:615382 ANKS6 203286 HP:0000113 Polycystic kidney dysplasia OMIM:615382 ANKS6 203286 HP:0000105 Enlarged kidneys OMIM:615382 ANKS6 203286 HP:0000007 Autosomal recessive inheritance OMIM:615382 ANKS6 203286 HP:0001650 Aortic valve stenosis OMIM:615382 ANKS6 203286 HP:0000090 Nephronophthisis OMIM:615382 ANKS6 203286 HP:0001396 Cholestasis OMIM:615382 ANKS6 203286 HP:0001643 Patent ductus arteriosus OMIM:615382 ANKS6 203286 HP:0000083 Renal insufficiency OMIM:615382 ANKS6 203286 HP:0001395 Hepatic fibrosis OMIM:615382 ANKS6 203286 HP:0001639 Hypertrophic cardiomyopathy OMIM:613765 TTN 7273 HP:0001644 Dilated cardiomyopathy OMIM:613765 TTN 7273 HP:0000006 Autosomal dominant inheritance OMIM:203655 HR 55806 HP:0002289 Alopecia universalis OMIM:203655 HR 55806 HP:0001939 Abnormality of metabolism/homeostasis OMIM:203655 HR 55806 HP:0000007 Autosomal recessive inheritance OMIM:220111 LRPPRC 10128 HP:0007305 CNS demyelination OMIM:220111 LRPPRC 10128 HP:0001007 Hirsutism OMIM:220111 LRPPRC 10128 HP:0000431 Wide nasal bridge OMIM:220111 LRPPRC 10128 HP:0001251 Ataxia OMIM:220111 LRPPRC 10128 HP:0002171 Gliosis OMIM:220111 LRPPRC 10128 HP:0001250 Seizures OMIM:220111 LRPPRC 10128 HP:0011220 Prominent forehead OMIM:220111 LRPPRC 10128 HP:0002151 Increased serum lactate OMIM:220111 LRPPRC 10128 HP:0011096 Peripheral demyelination OMIM:220111 LRPPRC 10128 HP:0001263 Global developmental delay OMIM:220111 LRPPRC 10128 HP:0002553 Highly arched eyebrow OMIM:220111 LRPPRC 10128 HP:0000294 Low anterior hairline OMIM:220111 LRPPRC 10128 HP:0001414 Microvesicular hepatic steatosis OMIM:220111 LRPPRC 10128 HP:0000750 Delayed speech and language development OMIM:220111 LRPPRC 10128 HP:0001943 Hypoglycemia OMIM:220111 LRPPRC 10128 HP:0003128 Lactic acidosis OMIM:220111 LRPPRC 10128 HP:0000316 Hypertelorism OMIM:220111 LRPPRC 10128 HP:0001508 Failure to thrive OMIM:220111 LRPPRC 10128 HP:0006565 Increased hepatocellular lipid droplets OMIM:220111 LRPPRC 10128 HP:0011800 Midface retrusion OMIM:220111 LRPPRC 10128 HP:0003593 Infantile onset OMIM:220111 LRPPRC 10128 HP:0002490 Increased CSF lactate OMIM:220111 LRPPRC 10128 HP:0000272 Malar flattening OMIM:220111 LRPPRC 10128 HP:0003074 Hyperglycemia OMIM:220111 LRPPRC 10128 HP:0001252 Muscular hypotonia OMIM:220111 LRPPRC 10128 HP:0000486 Strabismus OMIM:220111 LRPPRC 10128 HP:0002789 Tachypnea OMIM:220111 LRPPRC 10128 HP:0000007 Autosomal recessive inheritance OMIM:220111 LRPPRC 10128 HP:0001337 Tremor OMIM:220111 LRPPRC 10128 HP:0000463 Anteverted nares OMIM:211100 FUT1 2523 HP:0001871 Abnormality of blood and blood-forming tissues OMIM:211100 FUT1 2523 HP:0000007 Autosomal recessive inheritance OMIM:228600 ANTXR2 118429 HP:0011024 Abnormality of the gastrointestinal tract OMIM:228600 ANTXR2 118429 HP:0000169 Gingival fibromatosis OMIM:228600 ANTXR2 118429 HP:0000938 Osteopenia OMIM:228600 ANTXR2 118429 HP:0200042 Skin ulcer OMIM:228600 ANTXR2 118429 HP:0003828 Variable expressivity OMIM:228600 ANTXR2 118429 HP:0000007 Autosomal recessive inheritance OMIM:228600 ANTXR2 118429 HP:0000929 Abnormality of the skull OMIM:228600 ANTXR2 118429 HP:0001376 Limitation of joint mobility OMIM:228600 ANTXR2 118429 HP:0005876 Progressive flexion contractures OMIM:228600 ANTXR2 118429 HP:0001482 Subcutaneous nodule OMIM:228600 ANTXR2 118429 HP:0000280 Coarse facial features OMIM:228600 ANTXR2 118429 HP:0000939 Osteoporosis OMIM:228600 ANTXR2 118429 HP:0000212 Gingival overgrowth OMIM:228600 ANTXR2 118429 HP:0001371 Flexion contracture OMIM:228600 ANTXR2 118429 HP:0008065 Aplasia/Hypoplasia of the skin OMIM:228600 ANTXR2 118429 HP:0002797 Osteolysis OMIM:228600 ANTXR2 118429 HP:0003676 Progressive disorder OMIM:228600 ANTXR2 118429 HP:0003202 Skeletal muscle atrophy OMIM:228600 ANTXR2 118429 HP:0000940 Abnormal diaphysis morphology OMIM:614922 RMND1 55005 HP:0011968 Feeding difficulties OMIM:614922 RMND1 55005 HP:0006829 Severe muscular hypotonia OMIM:614922 RMND1 55005 HP:0001254 Lethargy OMIM:614922 RMND1 55005 HP:0000110 Renal dysplasia OMIM:614922 RMND1 55005 HP:0001638 Cardiomyopathy OMIM:614922 RMND1 55005 HP:0002120 Cerebral cortical atrophy OMIM:614922 RMND1 55005 HP:0001947 Renal tubular acidosis OMIM:614922 RMND1 55005 HP:0001336 Myoclonus OMIM:614922 RMND1 55005 HP:0003429 CNS hypomyelination OMIM:614922 RMND1 55005 HP:0003577 Congenital onset OMIM:614922 RMND1 55005 HP:0001302 Pachygyria OMIM:614922 RMND1 55005 HP:0000365 Hearing impairment OMIM:614922 RMND1 55005 HP:0001265 Hyporeflexia OMIM:614922 RMND1 55005 HP:0003128 Lactic acidosis OMIM:614922 RMND1 55005 HP:0000007 Autosomal recessive inheritance OMIM:614922 RMND1 55005 HP:0001308 Tongue fasciculations OMIM:614922 RMND1 55005 HP:0002240 Hepatomegaly OMIM:614922 RMND1 55005 HP:0009830 Peripheral neuropathy OMIM:614922 RMND1 55005 HP:0003198 Myopathy OMIM:614922 RMND1 55005 HP:0001522 Death in infancy OMIM:614922 RMND1 55005 HP:0002490 Increased CSF lactate OMIM:614922 RMND1 55005 HP:0001284 Areflexia OMIM:614922 RMND1 55005 HP:0002151 Increased serum lactate OMIM:614922 RMND1 55005 HP:0002079 Hypoplasia of the corpus callosum OMIM:614922 RMND1 55005 HP:0001410 Decreased liver function OMIM:111620 ERMAP 114625 HP:0010701 Abnormal immunoglobulin level OMIM:615269 DUSP6 1848 HP:0000939 Osteoporosis OMIM:615269 DUSP6 1848 HP:0000938 Osteopenia OMIM:615269 DUSP6 1848 HP:0000365 Hearing impairment OMIM:615269 DUSP6 1848 HP:0000164 Abnormality of the teeth OMIM:310490 AIFM1 9131 HP:0001419 X-linked recessive inheritance OMIM:310490 AIFM1 9131 HP:0000762 Decreased nerve conduction velocity OMIM:310490 AIFM1 9131 HP:0000407 Sensorineural hearing impairment OMIM:310490 AIFM1 9131 HP:0007328 Impaired pain sensation OMIM:310490 AIFM1 9131 HP:0007002 Motor axonal neuropathy OMIM:310490 AIFM1 9131 HP:0100543 Cognitive impairment OMIM:310490 AIFM1 9131 HP:0001288 Gait disturbance OMIM:310490 AIFM1 9131 HP:0001324 Muscle weakness OMIM:310490 AIFM1 9131 HP:0001337 Tremor OMIM:310490 AIFM1 9131 HP:0001761 Pes cavus OMIM:310490 AIFM1 9131 HP:0001315 Reduced tendon reflexes OMIM:310490 AIFM1 9131 HP:0003202 Skeletal muscle atrophy OMIM:310490 AIFM1 9131 HP:0002650 Scoliosis OMIM:310490 AIFM1 9131 HP:0002808 Kyphosis OMIM:310490 AIFM1 9131 HP:0003236 Elevated serum creatine phosphokinase OMIM:310490 AIFM1 9131 HP:0002311 Incoordination OMIM:310490 AIFM1 9131 HP:0004372 Reduced consciousness/confusion OMIM:310490 AIFM1 9131 HP:0000763 Sensory neuropathy OMIM:310490 AIFM1 9131 HP:0002167 Neurological speech impairment OMIM:310490 AIFM1 9131 HP:0000365 Hearing impairment OMIM:310490 AIFM1 9131 HP:0001249 Intellectual disability OMIM:252940 GNS 2799 HP:0005280 Depressed nasal bridge OMIM:252940 GNS 2799 HP:0001670 Asymmetric septal hypertrophy OMIM:252940 GNS 2799 HP:0011220 Prominent forehead OMIM:252940 GNS 2799 HP:0002788 Recurrent upper respiratory tract infections OMIM:252940 GNS 2799 HP:0002014 Diarrhea OMIM:252940 GNS 2799 HP:0000365 Hearing impairment OMIM:252940 GNS 2799 HP:0001249 Intellectual disability OMIM:252940 GNS 2799 HP:0002307 Drooling OMIM:252940 GNS 2799 HP:0000179 Thick lower lip vermilion OMIM:252940 GNS 2799 HP:0000154 Wide mouth OMIM:252940 GNS 2799 HP:0000664 Synophrys OMIM:252940 GNS 2799 HP:0002360 Sleep disturbance OMIM:252940 GNS 2799 HP:0000470 Short neck OMIM:252940 GNS 2799 HP:0000574 Thick eyebrow OMIM:252940 GNS 2799 HP:0003309 Ovoid thoracolumbar vertebrae OMIM:252940 GNS 2799 HP:0002159 Heparan sulfate excretion in urine OMIM:252940 GNS 2799 HP:0001387 Joint stiffness OMIM:252940 GNS 2799 HP:0001260 Dysarthria OMIM:252940 GNS 2799 HP:0003653 Cellular metachromasia OMIM:252940 GNS 2799 HP:0000900 Thickened ribs OMIM:252940 GNS 2799 HP:0001007 Hirsutism OMIM:252940 GNS 2799 HP:0002015 Dysphagia OMIM:252940 GNS 2799 HP:0000752 Hyperactivity OMIM:252940 GNS 2799 HP:0001344 Absent speech OMIM:252940 GNS 2799 HP:0000943 Dysostosis multiplex OMIM:252940 GNS 2799 HP:0001371 Flexion contracture OMIM:252940 GNS 2799 HP:0002007 Frontal bossing OMIM:252940 GNS 2799 HP:0002208 Coarse hair OMIM:252940 GNS 2799 HP:0000280 Coarse facial features OMIM:252940 GNS 2799 HP:0000369 Low-set ears OMIM:252940 GNS 2799 HP:0001744 Splenomegaly OMIM:252940 GNS 2799 HP:0000463 Anteverted nares OMIM:252940 GNS 2799 HP:0001507 Growth abnormality OMIM:252940 GNS 2799 HP:0000007 Autosomal recessive inheritance OMIM:252940 GNS 2799 HP:0003676 Progressive disorder OMIM:252940 GNS 2799 HP:0002240 Hepatomegaly OMIM:252940 GNS 2799 HP:0001250 Seizures OMIM:601369 COCH 1690 HP:0002321 Vertigo OMIM:601369 COCH 1690 HP:0000006 Autosomal dominant inheritance OMIM:601369 COCH 1690 HP:0003676 Progressive disorder OMIM:601369 COCH 1690 HP:0000360 Tinnitus OMIM:601369 COCH 1690 HP:0009591 Abnormality of the vestibulocochlear nerve OMIM:601369 COCH 1690 HP:0008596 Postlingual sensorineural hearing impairment OMIM:601369 COCH 1690 HP:0011462 Young adult onset OMIM:601369 COCH 1690 HP:0005102 Cochlear degeneration OMIM:139393 PMP22 5376 HP:0007131 Acute demyelinating polyneuropathy OMIM:237450 SLCO1B1 10599 HP:0002908 Conjugated hyperbilirubinemia OMIM:237450 SLCO1B1 10599 HP:0000007 Autosomal recessive inheritance OMIM:237450 SLCO1B1 10599 HP:0001000 Abnormality of skin pigmentation OMIM:237450 SLCO1B1 10599 HP:0000924 Abnormality of the skeletal system OMIM:237450 SLCO1B1 10599 HP:0004370 Abnormality of temperature regulation OMIM:237450 SLCO1B1 10599 HP:0004295 Abnormality of the gastric mucosa OMIM:237450 SLCO1B1 10599 HP:0000952 Jaundice OMIM:237450 SLCO1B1 10599 HP:0001392 Abnormality of the liver OMIM:237450 SLCO1B1 10599 HP:0002027 Abdominal pain OMIM:237450 SLCO1B3 28234 HP:0002908 Conjugated hyperbilirubinemia OMIM:237450 SLCO1B3 28234 HP:0000007 Autosomal recessive inheritance OMIM:237450 SLCO1B3 28234 HP:0001000 Abnormality of skin pigmentation OMIM:237450 SLCO1B3 28234 HP:0000924 Abnormality of the skeletal system OMIM:237450 SLCO1B3 28234 HP:0004370 Abnormality of temperature regulation OMIM:237450 SLCO1B3 28234 HP:0004295 Abnormality of the gastric mucosa OMIM:237450 SLCO1B3 28234 HP:0000952 Jaundice OMIM:237450 SLCO1B3 28234 HP:0001392 Abnormality of the liver OMIM:237450 SLCO1B3 28234 HP:0002027 Abdominal pain ORPHANET:3197 GPHN 10243 HP:0002311 Incoordination ORPHANET:3197 GPHN 10243 HP:0100543 Cognitive impairment ORPHANET:3197 GPHN 10243 HP:0003272 Abnormality of the hip bone ORPHANET:3197 GPHN 10243 HP:0001347 Hyperreflexia ORPHANET:3197 GPHN 10243 HP:0001376 Limitation of joint mobility ORPHANET:3197 GPHN 10243 HP:0001537 Umbilical hernia ORPHANET:3197 GPHN 10243 HP:0001373 Joint dislocation ORPHANET:3197 GPHN 10243 HP:0001288 Gait disturbance ORPHANET:3197 GPHN 10243 HP:0001276 Hypertonia ORPHANET:3197 GPHN 10243 HP:0001250 Seizures ORPHANET:3197 GPHN 10243 HP:0002360 Sleep disturbance ORPHANET:3197 GPHN 10243 HP:0004305 Involuntary movements ORPHANET:3197 SLC6A5 9152 HP:0002311 Incoordination ORPHANET:3197 SLC6A5 9152 HP:0100543 Cognitive impairment ORPHANET:3197 SLC6A5 9152 HP:0003272 Abnormality of the hip bone ORPHANET:3197 SLC6A5 9152 HP:0001347 Hyperreflexia ORPHANET:3197 SLC6A5 9152 HP:0001376 Limitation of joint mobility ORPHANET:3197 SLC6A5 9152 HP:0001537 Umbilical hernia ORPHANET:3197 SLC6A5 9152 HP:0001373 Joint dislocation ORPHANET:3197 SLC6A5 9152 HP:0001288 Gait disturbance ORPHANET:3197 SLC6A5 9152 HP:0001276 Hypertonia ORPHANET:3197 SLC6A5 9152 HP:0001250 Seizures ORPHANET:3197 SLC6A5 9152 HP:0002360 Sleep disturbance ORPHANET:3197 SLC6A5 9152 HP:0004305 Involuntary movements ORPHANET:3197 GLRB 2743 HP:0002311 Incoordination ORPHANET:3197 GLRB 2743 HP:0100543 Cognitive impairment ORPHANET:3197 GLRB 2743 HP:0003272 Abnormality of the hip bone ORPHANET:3197 GLRB 2743 HP:0001347 Hyperreflexia ORPHANET:3197 GLRB 2743 HP:0001376 Limitation of joint mobility ORPHANET:3197 GLRB 2743 HP:0001537 Umbilical hernia ORPHANET:3197 GLRB 2743 HP:0001373 Joint dislocation ORPHANET:3197 GLRB 2743 HP:0001288 Gait disturbance ORPHANET:3197 GLRB 2743 HP:0001276 Hypertonia ORPHANET:3197 GLRB 2743 HP:0001250 Seizures ORPHANET:3197 GLRB 2743 HP:0002360 Sleep disturbance ORPHANET:3197 GLRB 2743 HP:0004305 Involuntary movements ORPHANET:3197 GLRA1 2741 HP:0002311 Incoordination ORPHANET:3197 GLRA1 2741 HP:0100543 Cognitive impairment ORPHANET:3197 GLRA1 2741 HP:0003272 Abnormality of the hip bone ORPHANET:3197 GLRA1 2741 HP:0001347 Hyperreflexia ORPHANET:3197 GLRA1 2741 HP:0001376 Limitation of joint mobility ORPHANET:3197 GLRA1 2741 HP:0001537 Umbilical hernia ORPHANET:3197 GLRA1 2741 HP:0001373 Joint dislocation ORPHANET:3197 GLRA1 2741 HP:0001288 Gait disturbance ORPHANET:3197 GLRA1 2741 HP:0001276 Hypertonia ORPHANET:3197 GLRA1 2741 HP:0001250 Seizures ORPHANET:3197 GLRA1 2741 HP:0002360 Sleep disturbance ORPHANET:3197 GLRA1 2741 HP:0004305 Involuntary movements OMIM:612356 SERPIND1 3053 HP:0005521 Disseminated intravascular coagulation OMIM:612356 SERPIND1 3053 HP:0004850 Recurrent deep vein thrombosis OMIM:612356 SERPIND1 3053 HP:0004761 Post-angioplasty coronary artery restenosis OMIM:612356 SERPIND1 3053 HP:0000006 Autosomal dominant inheritance OMIM:613094 GDF6 392255 HP:0000006 Autosomal dominant inheritance OMIM:613094 GDF6 392255 HP:0100259 Postaxial polydactyly OMIM:613094 GDF6 392255 HP:0000568 Microphthalmos OMIM:613094 GDF6 392255 HP:0000589 Coloboma OMIM:613094 GDF6 392255 HP:0010469 Aplasia of the testes OMIM:304100 L1CAM 3897 HP:0001250 Seizures OMIM:304100 L1CAM 3897 HP:0001324 Muscle weakness OMIM:304100 L1CAM 3897 HP:0002251 Aganglionic megacolon OMIM:304100 L1CAM 3897 HP:0001999 Abnormal facial shape OMIM:304100 L1CAM 3897 HP:0007068 Inferior vermis hypoplasia OMIM:304100 L1CAM 3897 HP:0000252 Microcephaly OMIM:304100 L1CAM 3897 HP:0001257 Spasticity OMIM:304100 L1CAM 3897 HP:0001321 Cerebellar hypoplasia OMIM:304100 L1CAM 3897 HP:0001338 Partial agenesis of the corpus callosum OMIM:304100 L1CAM 3897 HP:0001249 Intellectual disability OMIM:304100 L1CAM 3897 HP:0000238 Hydrocephalus OMIM:304100 L1CAM 3897 HP:0001276 Hypertonia OMIM:304100 L1CAM 3897 HP:0001417 X-linked inheritance OMIM:304100 L1CAM 3897 HP:0100543 Cognitive impairment OMIM:600118 RAB3GAP1 22930 HP:0001274 Agenesis of corpus callosum OMIM:600118 RAB3GAP1 22930 HP:0000482 Microcornea OMIM:600118 RAB3GAP1 22930 HP:0000508 Ptosis OMIM:600118 RAB3GAP1 22930 HP:0002079 Hypoplasia of the corpus callosum OMIM:600118 RAB3GAP1 22930 HP:0000400 Macrotia OMIM:600118 RAB3GAP1 22930 HP:0001508 Failure to thrive OMIM:600118 RAB3GAP1 22930 HP:0001264 Spastic diplegia OMIM:600118 RAB3GAP1 22930 HP:0000347 Micrognathia OMIM:600118 RAB3GAP1 22930 HP:0000568 Microphthalmos OMIM:600118 RAB3GAP1 22930 HP:0001252 Muscular hypotonia OMIM:600118 RAB3GAP1 22930 HP:0001845 Overlapping toe OMIM:600118 RAB3GAP1 22930 HP:0000519 Congenital cataract OMIM:600118 RAB3GAP1 22930 HP:0000007 Autosomal recessive inheritance OMIM:600118 RAB3GAP1 22930 HP:0001321 Cerebellar hypoplasia OMIM:600118 RAB3GAP1 22930 HP:0000939 Osteoporosis OMIM:600118 RAB3GAP1 22930 HP:0002751 Kyphoscoliosis OMIM:600118 RAB3GAP1 22930 HP:0002059 Cerebral atrophy OMIM:600118 RAB3GAP1 22930 HP:0001249 Intellectual disability OMIM:600118 RAB3GAP1 22930 HP:0000490 Deeply set eye OMIM:600118 RAB3GAP1 22930 HP:0000648 Optic atrophy OMIM:600118 RAB3GAP1 22930 HP:0003241 External genital hypoplasia OMIM:600118 RAB3GAP1 22930 HP:0000028 Cryptorchidism OMIM:600118 RAB3GAP1 22930 HP:0001382 Joint hypermobility OMIM:600118 RAB3GAP1 22930 HP:0004322 Short stature OMIM:600118 RAB3GAP1 22930 HP:0001347 Hyperreflexia OMIM:600118 RAB3GAP1 22930 HP:0002219 Facial hypertrichosis OMIM:600118 RAB3GAP1 22930 HP:0000252 Microcephaly OMIM:163500 PDE6B 5158 HP:0000006 Autosomal dominant inheritance OMIM:163500 PDE6B 5158 HP:0007642 Congenital stationary night blindness OMIM:146110 GNRHR 2798 HP:0002215 Sparse axillary hair OMIM:146110 GNRHR 2798 HP:0000044 Hypogonadotrophic hypogonadism OMIM:146110 GNRHR 2798 HP:0000786 Primary amenorrhea OMIM:146110 GNRHR 2798 HP:0000028 Cryptorchidism OMIM:146110 GNRHR 2798 HP:0002225 Sparse pubic hair OMIM:146110 GNRHR 2798 HP:0000054 Micropenis OMIM:146110 GNRHR 2798 HP:0000006 Autosomal dominant inheritance OMIM:146110 GNRHR 2798 HP:0008734 Decreased testicular size OMIM:146110 GNRHR 2798 HP:0000789 Infertility OMIM:146110 GNRHR 2798 HP:0000771 Gynecomastia OMIM:232300 GAA 2548 HP:0000007 Autosomal recessive inheritance OMIM:232300 GAA 2548 HP:0003457 EMG abnormality OMIM:232300 GAA 2548 HP:0000365 Hearing impairment OMIM:232300 GAA 2548 HP:0002097 Emphysema OMIM:232300 GAA 2548 HP:0008872 Feeding difficulties in infancy OMIM:232300 GAA 2548 HP:0002167 Neurological speech impairment OMIM:232300 GAA 2548 HP:0002353 EEG abnormality OMIM:232300 GAA 2548 HP:0011675 Arrhythmia OMIM:232300 GAA 2548 HP:0000157 Abnormality of the tongue OMIM:232300 GAA 2548 HP:0005978 Type II diabetes mellitus OMIM:232300 GAA 2548 HP:0003701 Proximal muscle weakness OMIM:232300 GAA 2548 HP:0006597 Diaphragmatic paralysis OMIM:232300 GAA 2548 HP:0001716 Wolff-Parkinson-White syndrome OMIM:232300 GAA 2548 HP:0005165 Shortened PR interval OMIM:232300 GAA 2548 HP:0000158 Macroglossia OMIM:232300 GAA 2548 HP:0001288 Gait disturbance OMIM:232300 GAA 2548 HP:0003236 Elevated serum creatine phosphokinase OMIM:232300 GAA 2548 HP:0002205 Recurrent respiratory infections OMIM:232300 GAA 2548 HP:0100543 Cognitive impairment OMIM:232300 GAA 2548 HP:0002094 Dyspnea OMIM:232300 GAA 2548 HP:0001252 Muscular hypotonia OMIM:232300 GAA 2548 HP:0001640 Cardiomegaly OMIM:232300 GAA 2548 HP:0002240 Hepatomegaly OMIM:232300 GAA 2548 HP:0011400 Abnormal CNS myelination OMIM:232300 GAA 2548 HP:0003725 Firm muscles OMIM:232300 GAA 2548 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:232300 GAA 2548 HP:0001639 Hypertrophic cardiomyopathy OMIM:232300 GAA 2548 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature OMIM:232300 GAA 2548 HP:0001744 Splenomegaly OMIM:232300 GAA 2548 HP:0001945 Fever OMIM:232300 GAA 2548 HP:0001284 Areflexia OMIM:232300 GAA 2548 HP:0003198 Myopathy OMIM:232300 GAA 2548 HP:0001250 Seizures OMIM:232300 GAA 2548 HP:0004944 Cerebral aneurysm ORPHANET:89842 COL7A1 1294 HP:0001596 Alopecia ORPHANET:89842 COL7A1 1294 HP:0008388 Abnormality of the toenails ORPHANET:89842 COL7A1 1294 HP:0010296 Ankyloglossia ORPHANET:89842 COL7A1 1294 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:89842 COL7A1 1294 HP:0000078 Abnormality of the genital system ORPHANET:89842 COL7A1 1294 HP:0000670 Carious teeth ORPHANET:89842 COL7A1 1294 HP:0000160 Narrow mouth ORPHANET:89842 COL7A1 1294 HP:0001903 Anemia ORPHANET:89842 COL7A1 1294 HP:0004349 Reduced bone mineral density ORPHANET:89842 COL7A1 1294 HP:0200020 Corneal erosion ORPHANET:89842 COL7A1 1294 HP:0008066 Abnormal blistering of the skin ORPHANET:89842 COL7A1 1294 HP:0000987 Atypical scarring of skin ORPHANET:89842 COL7A1 1294 HP:0001770 Toe syndactyly ORPHANET:89842 COL7A1 1294 HP:0008050 Abnormality of the palpebral fissures ORPHANET:89842 COL7A1 1294 HP:0008872 Feeding difficulties in infancy ORPHANET:89842 COL7A1 1294 HP:0006101 Finger syndactyly ORPHANET:89842 COL7A1 1294 HP:0008069 Neoplasm of the skin ORPHANET:89842 COL7A1 1294 HP:0002019 Constipation ORPHANET:89842 COL7A1 1294 HP:0000505 Visual impairment ORPHANET:89842 COL7A1 1294 HP:0002575 Tracheoesophageal fistula ORPHANET:89842 COL7A1 1294 HP:0001231 Abnormality of the fingernails OMIM:254130 DYSF 8291 HP:0003581 Adult onset OMIM:254130 DYSF 8291 HP:0009072 Decreased Achilles reflex OMIM:254130 DYSF 8291 HP:0003693 Distal amyotrophy OMIM:254130 DYSF 8291 HP:0007340 Lower limb muscle weakness OMIM:254130 DYSF 8291 HP:0001425 Heterogeneous OMIM:254130 DYSF 8291 HP:0002460 Distal muscle weakness OMIM:254130 DYSF 8291 HP:0003551 Difficulty climbing stairs OMIM:254130 DYSF 8291 HP:0003560 Muscular dystrophy OMIM:254130 DYSF 8291 HP:0003236 Elevated serum creatine phosphokinase OMIM:254130 DYSF 8291 HP:0000007 Autosomal recessive inheritance OMIM:254130 DYSF 8291 HP:0003791 Deposits immunoreactive to beta-amyloid protein OMIM:254130 DYSF 8291 HP:0200101 Decreased/absent ankle reflexes OMIM:254130 DYSF 8291 HP:0010546 Muscle fibrillation OMIM:602111 MMP13 4322 HP:0002980 Femoral bowing OMIM:602111 MMP13 4322 HP:0002970 Genu varum OMIM:602111 MMP13 4322 HP:0003031 Ulnar bowing OMIM:602111 MMP13 4322 HP:0003021 Metaphyseal cupping OMIM:602111 MMP13 4322 HP:0000006 Autosomal dominant inheritance OMIM:602111 MMP13 4322 HP:0000926 Platyspondyly OMIM:602111 MMP13 4322 HP:0002758 Osteoarthritis OMIM:602111 MMP13 4322 HP:0002651 Spondyloepimetaphyseal dysplasia OMIM:602111 MMP13 4322 HP:0002812 Coxa vara OMIM:602111 MMP13 4322 HP:0002750 Delayed skeletal maturation OMIM:602111 MMP13 4322 HP:0003071 Flattened epiphysis OMIM:602111 MMP13 4322 HP:0010585 Small epiphyses OMIM:602111 MMP13 4322 HP:0008476 Irregular sclerotic endplates OMIM:602111 MMP13 4322 HP:0002982 Tibial bowing OMIM:602111 MMP13 4322 HP:0006603 Flared, irregular rib ends OMIM:602111 MMP13 4322 HP:0003015 Flared metaphysis OMIM:602111 MMP13 4322 HP:0001377 Limited elbow extension OMIM:602111 MMP13 4322 HP:0008905 Rhizomelia OMIM:602111 MMP13 4322 HP:0002986 Radial bowing OMIM:602111 MMP13 4322 HP:0004566 Pear-shaped vertebrae OMIM:602111 MMP13 4322 HP:0002869 Flared iliac wings OMIM:602111 MMP13 4322 HP:0002515 Waddling gait OMIM:101800 PRKAR1A 5573 HP:0000684 Delayed eruption of teeth OMIM:101800 PRKAR1A 5573 HP:0000995 Melanocytic nevus OMIM:101800 PRKAR1A 5573 HP:0010230 Cone-shaped epiphyses of the phalanges of the hand OMIM:101800 PRKAR1A 5573 HP:0000238 Hydrocephalus OMIM:101800 PRKAR1A 5573 HP:0005280 Depressed nasal bridge OMIM:101800 PRKAR1A 5573 HP:0008479 Hypoplastic vertebral bodies OMIM:101800 PRKAR1A 5573 HP:0000689 Dental malocclusion OMIM:101800 PRKAR1A 5573 HP:0010743 Short metatarsal OMIM:101800 PRKAR1A 5573 HP:0000455 Broad nasal tip OMIM:101800 PRKAR1A 5573 HP:0000858 Menstrual irregularities OMIM:101800 PRKAR1A 5573 HP:0000028 Cryptorchidism OMIM:101800 PRKAR1A 5573 HP:0000327 Hypoplasia of the maxilla OMIM:101800 PRKAR1A 5573 HP:0000248 Brachycephaly OMIM:101800 PRKAR1A 5573 HP:0003416 Spinal canal stenosis OMIM:101800 PRKAR1A 5573 HP:0000648 Optic atrophy OMIM:101800 PRKAR1A 5573 HP:0000303 Mandibular prognathia OMIM:101800 PRKAR1A 5573 HP:0005616 Accelerated skeletal maturation OMIM:101800 PRKAR1A 5573 HP:0000486 Strabismus OMIM:101800 PRKAR1A 5573 HP:0000135 Hypogonadism OMIM:101800 PRKAR1A 5573 HP:0000365 Hearing impairment OMIM:101800 PRKAR1A 5573 HP:0000463 Anteverted nares OMIM:101800 PRKAR1A 5573 HP:0001249 Intellectual disability OMIM:101800 PRKAR1A 5573 HP:0000316 Hypertelorism OMIM:101800 PRKAR1A 5573 HP:0003083 Dislocated radial head OMIM:101800 PRKAR1A 5573 HP:0000668 Hypodontia OMIM:101800 PRKAR1A 5573 HP:0001169 Broad palm OMIM:101800 PRKAR1A 5573 HP:0003165 Elevated circulating parathyroid hormone (PTH) level OMIM:101800 PRKAR1A 5573 HP:0002650 Scoliosis OMIM:101800 PRKAR1A 5573 HP:0008450 Narrow vertebral interpedicular distance OMIM:101800 PRKAR1A 5573 HP:0010049 Short metacarpal OMIM:101800 PRKAR1A 5573 HP:0001847 Long hallux OMIM:101800 PRKAR1A 5573 HP:0008873 Disproportionate short-limb short stature OMIM:101800 PRKAR1A 5573 HP:0005756 Neonatal epiphyseal stippling OMIM:101800 PRKAR1A 5573 HP:0000006 Autosomal dominant inheritance OMIM:101800 PRKAR1A 5573 HP:0001530 Mild postnatal growth retardation OMIM:101800 PRKAR1A 5573 HP:0000286 Epicanthus OMIM:101800 PRKAR1A 5573 HP:0009803 Short phalanx of finger OMIM:101800 PRKAR1A 5573 HP:0004279 Short palm OMIM:101800 PRKAR1A 5573 HP:0004490 Calvarial hyperostosis OMIM:101800 PRKAR1A 5573 HP:0000635 Blue irides OMIM:607616 SMPD1 6609 HP:0002205 Recurrent respiratory infections OMIM:607616 SMPD1 6609 HP:0003609 Foam cells with lamellar inclusion bodies OMIM:607616 SMPD1 6609 HP:0004333 Bone-marrow foam cells OMIM:607616 SMPD1 6609 HP:0001103 Abnormality of the macula OMIM:607616 SMPD1 6609 HP:0004322 Short stature OMIM:607616 SMPD1 6609 HP:0000007 Autosomal recessive inheritance OMIM:607616 SMPD1 6609 HP:0002094 Dyspnea OMIM:607616 SMPD1 6609 HP:0002207 Diffuse reticular or finely nodular infiltrations OMIM:607616 SMPD1 6609 HP:0003233 Hypoalphalipoproteinemia OMIM:607616 SMPD1 6609 HP:0003141 Hyperbetalipoproteinemia OMIM:607616 SMPD1 6609 HP:0002240 Hepatomegaly OMIM:607616 SMPD1 6609 HP:0002155 Hypertriglyceridemia OMIM:607616 SMPD1 6609 HP:0001982 Sea-blue histiocytosis OMIM:607616 SMPD1 6609 HP:0001744 Splenomegaly OMIM:607616 SMPD1 6609 HP:0003812 Phenotypic variability OMIM:607616 SMPD1 6609 HP:0003621 Juvenile onset OMIM:601382 MTMR2 8898 HP:0007208 Irregular myelin loops OMIM:601382 MTMR2 8898 HP:0006958 Abnormal auditory evoked potentials OMIM:601382 MTMR2 8898 HP:0002936 Distal sensory impairment OMIM:601382 MTMR2 8898 HP:0003693 Distal amyotrophy OMIM:601382 MTMR2 8898 HP:0002650 Scoliosis OMIM:601382 MTMR2 8898 HP:0001762 Talipes equinovarus OMIM:601382 MTMR2 8898 HP:0003701 Proximal muscle weakness OMIM:601382 MTMR2 8898 HP:0003431 Decreased motor nerve conduction velocity OMIM:601382 MTMR2 8898 HP:0002460 Distal muscle weakness OMIM:601382 MTMR2 8898 HP:0010628 Facial palsy OMIM:601382 MTMR2 8898 HP:0001270 Motor delay OMIM:601382 MTMR2 8898 HP:0000007 Autosomal recessive inheritance OMIM:614008 BANF1 8815 HP:0000444 Convex nasal ridge OMIM:614008 BANF1 8815 HP:0000905 Progressive clavicular acroosteolysis OMIM:614008 BANF1 8815 HP:0000520 Proptosis OMIM:614008 BANF1 8815 HP:0001387 Joint stiffness OMIM:614008 BANF1 8815 HP:0001371 Flexion contracture OMIM:614008 BANF1 8815 HP:0000678 Dental crowding OMIM:614008 BANF1 8815 HP:0011800 Midface retrusion OMIM:614008 BANF1 8815 HP:0000347 Micrognathia OMIM:614008 BANF1 8815 HP:0002621 Atherosclerosis OMIM:614008 BANF1 8815 HP:0002650 Scoliosis OMIM:614008 BANF1 8815 HP:0004322 Short stature OMIM:614008 BANF1 8815 HP:0001508 Failure to thrive OMIM:614008 BANF1 8815 HP:0002092 Pulmonary hypertension OMIM:614008 BANF1 8815 HP:0005585 Spotty hyperpigmentation OMIM:614008 BANF1 8815 HP:0009839 Osteolytic defects of the distal phalanges of the hand OMIM:614008 BANF1 8815 HP:0000272 Malar flattening OMIM:614008 BANF1 8815 HP:0002973 Abnormality of the forearm OMIM:614008 BANF1 8815 HP:0100578 Lipoatrophy OMIM:614008 BANF1 8815 HP:0001476 Delayed closure of the anterior fontanelle OMIM:614008 BANF1 8815 HP:0000007 Autosomal recessive inheritance OMIM:614008 BANF1 8815 HP:0000653 Sparse eyelashes OMIM:614008 BANF1 8815 HP:0000535 Sparse eyebrow OMIM:614008 BANF1 8815 HP:0000939 Osteoporosis OMIM:614008 BANF1 8815 HP:0011703 Sinus tachycardia OMIM:614008 BANF1 8815 HP:0000772 Abnormality of the ribs OMIM:614008 BANF1 8815 HP:0010537 Wide cranial sutures OMIM:184500 KRT17 3872 HP:0000787 Nephrolithiasis OMIM:184500 KRT17 3872 HP:0000006 Autosomal dominant inheritance OMIM:184500 KRT17 3872 HP:0009720 Adenoma sebaceum OMIM:184500 KRT17 3872 HP:0012035 Steatocystoma multiplex OMIM:613779 C3 718 HP:0000083 Renal insufficiency OMIM:613779 C3 718 HP:0000100 Nephrotic syndrome OMIM:613779 C3 718 HP:0000007 Autosomal recessive inheritance OMIM:613779 C3 718 HP:0000793 Membranoproliferative glomerulonephritis OMIM:613779 C3 718 HP:0005421 Decreased serum complement C3 OMIM:613779 C3 718 HP:0002718 Recurrent bacterial infections OMIM:120970 CRX 1406 HP:0000533 Chorioretinal atrophy OMIM:120970 CRX 1406 HP:0000662 Night blindness OMIM:120970 CRX 1406 HP:0001000 Abnormality of skin pigmentation OMIM:120970 CRX 1406 HP:0007994 Peripheral visual field loss OMIM:120970 CRX 1406 HP:0000618 Blindness OMIM:120970 CRX 1406 HP:0000006 Autosomal dominant inheritance OMIM:120970 CRX 1406 HP:0000548 Cone-rod dystrophy OMIM:611490 CLCN7 1186 HP:0000007 Autosomal recessive inheritance OMIM:611490 CLCN7 1186 HP:0002757 Recurrent fractures OMIM:611490 CLCN7 1186 HP:0011002 Osteopetrosis OMIM:611490 CLCN7 1186 HP:0001903 Anemia OMIM:611490 CLCN7 1186 HP:0001923 Reticulocytosis OMIM:611490 CLCN7 1186 HP:0001433 Hepatosplenomegaly OMIM:611490 CLCN7 1186 HP:0010628 Facial palsy OMIM:300475 BCAP31 10134 HP:0001263 Global developmental delay OMIM:300475 BCAP31 10134 HP:0000252 Microcephaly OMIM:300475 BCAP31 10134 HP:0000648 Optic atrophy OMIM:300475 BCAP31 10134 HP:0001249 Intellectual disability OMIM:300475 BCAP31 10134 HP:0001332 Dystonia OMIM:300475 BCAP31 10134 HP:0001419 X-linked recessive inheritance OMIM:300475 BCAP31 10134 HP:0001999 Abnormal facial shape OMIM:300475 BCAP31 10134 HP:0006808 Cerebral hypomyelination OMIM:300475 BCAP31 10134 HP:0001250 Seizures OMIM:300475 BCAP31 10134 HP:0007256 Abnormal pyramidal signs OMIM:300475 BCAP31 10134 HP:0001508 Failure to thrive OMIM:300475 BCAP31 10134 HP:0002059 Cerebral atrophy OMIM:300475 BCAP31 10134 HP:0002445 Tetraplegia OMIM:300475 BCAP31 10134 HP:0003429 CNS hypomyelination OMIM:300475 BCAP31 10134 HP:0000407 Sensorineural hearing impairment OMIM:300475 BCAP31 10134 HP:0001272 Cerebellar atrophy OMIM:300475 BCAP31 10134 HP:0000486 Strabismus OMIM:217085 WDPCP 51057 HP:0001679 Abnormality of the aorta OMIM:217085 WDPCP 51057 HP:0000028 Cryptorchidism OMIM:217085 WDPCP 51057 HP:0001233 2-3 finger syndactyly OMIM:217085 WDPCP 51057 HP:0001680 Coarctation of aorta OMIM:217085 WDPCP 51057 HP:0001674 Complete atrioventricular canal defect OMIM:217085 WDPCP 51057 HP:0001682 Subaortic stenosis OMIM:217085 WDPCP 51057 HP:0100835 Benign neoplasm of the central nervous system OMIM:217085 WDPCP 51057 HP:0001643 Patent ductus arteriosus OMIM:217085 WDPCP 51057 HP:0011802 Hamartoma of tongue OMIM:217085 WDPCP 51057 HP:0001162 Postaxial hand polydactyly OMIM:615033 DDHD2 23259 HP:0000609 Optic nerve hypoplasia OMIM:615033 DDHD2 23259 HP:0000506 Telecanthus OMIM:615033 DDHD2 23259 HP:0001249 Intellectual disability OMIM:615033 DDHD2 23259 HP:0002015 Dysphagia OMIM:615033 DDHD2 23259 HP:0007340 Lower limb muscle weakness OMIM:615033 DDHD2 23259 HP:0001260 Dysarthria OMIM:615033 DDHD2 23259 HP:0000007 Autosomal recessive inheritance OMIM:615033 DDHD2 23259 HP:0001258 Spastic paraplegia OMIM:615033 DDHD2 23259 HP:0002019 Constipation OMIM:615033 DDHD2 23259 HP:0000020 Urinary incontinence OMIM:615033 DDHD2 23259 HP:0002607 Bowel incontinence OMIM:615033 DDHD2 23259 HP:0002518 Abnormality of the periventricular white matter OMIM:615033 DDHD2 23259 HP:0004322 Short stature OMIM:615033 DDHD2 23259 HP:0000218 High palate OMIM:615033 DDHD2 23259 HP:0001347 Hyperreflexia OMIM:615033 DDHD2 23259 HP:0003487 Babinski sign OMIM:615033 DDHD2 23259 HP:0000486 Strabismus OMIM:615033 DDHD2 23259 HP:0001263 Global developmental delay OMIM:615033 DDHD2 23259 HP:0003676 Progressive disorder OMIM:615033 DDHD2 23259 HP:0002079 Hypoplasia of the corpus callosum OMIM:614424 TMEM237 65062 HP:0000322 Short philtrum OMIM:614424 TMEM237 65062 HP:0000286 Epicanthus OMIM:614424 TMEM237 65062 HP:0000490 Deeply set eye OMIM:614424 TMEM237 65062 HP:0000007 Autosomal recessive inheritance OMIM:614424 TMEM237 65062 HP:0010864 Intellectual disability, severe OMIM:614424 TMEM237 65062 HP:0010804 Tented upper lip vermilion OMIM:614424 TMEM237 65062 HP:0000272 Malar flattening OMIM:614424 TMEM237 65062 HP:0000426 Prominent nasal bridge OMIM:614424 TMEM237 65062 HP:0000589 Coloboma OMIM:614424 TMEM237 65062 HP:0000639 Nystagmus OMIM:614424 TMEM237 65062 HP:0000316 Hypertelorism OMIM:614424 TMEM237 65062 HP:0000194 Open mouth OMIM:614424 TMEM237 65062 HP:0100259 Postaxial polydactyly OMIM:614424 TMEM237 65062 HP:0000358 Posteriorly rotated ears OMIM:614424 TMEM237 65062 HP:0000486 Strabismus OMIM:614424 TMEM237 65062 HP:0000107 Renal cyst OMIM:614424 TMEM237 65062 HP:0000737 Irritability OMIM:614424 TMEM237 65062 HP:0000494 Downslanted palpebral fissures OMIM:614424 TMEM237 65062 HP:0001510 Growth delay OMIM:614424 TMEM237 65062 HP:0001252 Muscular hypotonia OMIM:614424 TMEM237 65062 HP:0000508 Ptosis OMIM:614424 TMEM237 65062 HP:0000822 Hypertension OMIM:614424 TMEM237 65062 HP:0001305 Dandy-Walker malformation OMIM:614424 TMEM237 65062 HP:0001251 Ataxia OMIM:614424 TMEM237 65062 HP:0002084 Encephalocele OMIM:614424 TMEM237 65062 HP:0000369 Low-set ears OMIM:614424 TMEM237 65062 HP:0000568 Microphthalmos OMIM:614424 TMEM237 65062 HP:0000238 Hydrocephalus OMIM:614424 TMEM237 65062 HP:0002553 Highly arched eyebrow OMIM:194070 GPC3 2719 HP:0002667 Nephroblastoma (Wilms tumor) OMIM:194070 GPC3 2719 HP:0001425 Heterogeneous OMIM:194070 GPC3 2719 HP:0000006 Autosomal dominant inheritance OMIM:194070 GPC3 2719 HP:0001428 Somatic mutation OMIM:194070 BRCA2 675 HP:0002667 Nephroblastoma (Wilms tumor) OMIM:194070 BRCA2 675 HP:0001425 Heterogeneous OMIM:194070 BRCA2 675 HP:0000006 Autosomal dominant inheritance OMIM:194070 BRCA2 675 HP:0001428 Somatic mutation OMIM:194070 WT1 7490 HP:0002667 Nephroblastoma (Wilms tumor) OMIM:194070 WT1 7490 HP:0001425 Heterogeneous OMIM:194070 WT1 7490 HP:0000006 Autosomal dominant inheritance OMIM:194070 WT1 7490 HP:0001428 Somatic mutation OMIM:613744 AP4E1 23431 HP:0003577 Congenital onset OMIM:613744 AP4E1 23431 HP:0001272 Cerebellar atrophy OMIM:613744 AP4E1 23431 HP:0000307 Pointed chin OMIM:613744 AP4E1 23431 HP:0000007 Autosomal recessive inheritance OMIM:613744 AP4E1 23431 HP:0001263 Global developmental delay OMIM:613744 AP4E1 23431 HP:0000341 Narrow forehead OMIM:613744 AP4E1 23431 HP:0000494 Downslanted palpebral fissures OMIM:613744 AP4E1 23431 HP:0001319 Neonatal hypotonia OMIM:613744 AP4E1 23431 HP:0002120 Cerebral cortical atrophy OMIM:613744 AP4E1 23431 HP:0010864 Intellectual disability, severe OMIM:613744 AP4E1 23431 HP:0004322 Short stature OMIM:613744 AP4E1 23431 HP:0003487 Babinski sign OMIM:613744 AP4E1 23431 HP:0000395 Prominent antihelix OMIM:613744 AP4E1 23431 HP:0000154 Wide mouth OMIM:613744 AP4E1 23431 HP:0000297 Facial hypotonia OMIM:613744 AP4E1 23431 HP:0002510 Spastic tetraplegia OMIM:613744 AP4E1 23431 HP:0000431 Wide nasal bridge OMIM:613744 AP4E1 23431 HP:0001371 Flexion contracture OMIM:613744 AP4E1 23431 HP:0001762 Talipes equinovarus OMIM:613744 AP4E1 23431 HP:0000280 Coarse facial features OMIM:613744 AP4E1 23431 HP:0003199 Decreased muscle mass OMIM:613744 AP4E1 23431 HP:0000252 Microcephaly OMIM:613744 AP4E1 23431 HP:0000322 Short philtrum OMIM:613744 AP4E1 23431 HP:0001250 Seizures OMIM:613744 AP4E1 23431 HP:0001258 Spastic paraplegia OMIM:613744 AP4E1 23431 HP:0000275 Narrow face OMIM:613744 AP4E1 23431 HP:0002119 Ventriculomegaly OMIM:613744 AP4E1 23431 HP:0003189 Long nose OMIM:613744 AP4E1 23431 HP:0000639 Nystagmus OMIM:613744 AP4E1 23431 HP:0001347 Hyperreflexia OMIM:613744 AP4E1 23431 HP:0000414 Bulbous nose OMIM:613744 AP4E1 23431 HP:0002307 Drooling ORPHANET:1896 TP63 8626 HP:0000574 Thick eyebrow ORPHANET:1896 TP63 8626 HP:0007513 Generalized hypopigmentation ORPHANET:1896 TP63 8626 HP:0002217 Slow-growing hair ORPHANET:1896 TP63 8626 HP:0008388 Abnormality of the toenails ORPHANET:1896 TP63 8626 HP:0000670 Carious teeth ORPHANET:1896 TP63 8626 HP:0000217 Xerostomia ORPHANET:1896 TP63 8626 HP:0009804 Reduced number of teeth ORPHANET:1896 TP63 8626 HP:0100627 Displacement of the external urethral meatus ORPHANET:1896 TP63 8626 HP:0000175 Cleft palate ORPHANET:1896 TP63 8626 HP:0009623 Proximal placement of thumb ORPHANET:1896 TP63 8626 HP:0004322 Short stature ORPHANET:1896 TP63 8626 HP:0000407 Sensorineural hearing impairment ORPHANET:1896 TP63 8626 HP:0006101 Finger syndactyly ORPHANET:1896 TP63 8626 HP:0200020 Corneal erosion ORPHANET:1896 TP63 8626 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:1896 TP63 8626 HP:0000958 Dry skin ORPHANET:1896 TP63 8626 HP:0001839 Split foot ORPHANET:1896 TP63 8626 HP:0100783 Breast aplasia ORPHANET:1896 TP63 8626 HP:0010515 Aplasia/Hypoplasia of the thymus ORPHANET:1896 TP63 8626 HP:0000679 Taurodontia ORPHANET:1896 TP63 8626 HP:0001770 Toe syndactyly ORPHANET:1896 TP63 8626 HP:0006709 Aplasia/Hypoplasia of the nipples ORPHANET:1896 TP63 8626 HP:0002208 Coarse hair ORPHANET:1896 TP63 8626 HP:0000453 Choanal atresia ORPHANET:1896 TP63 8626 HP:0000682 Abnormality of dental enamel ORPHANET:1896 TP63 8626 HP:0000632 Lacrimation abnormality ORPHANET:1896 TP63 8626 HP:0008572 External ear malformation ORPHANET:1896 TP63 8626 HP:0000076 Vesicoureteral reflux ORPHANET:1896 TP63 8626 HP:0001231 Abnormality of the fingernails ORPHANET:1896 TP63 8626 HP:0001171 Split hand ORPHANET:1896 TP63 8626 HP:0000830 Anterior hypopituitarism ORPHANET:1896 TP63 8626 HP:0000370 Abnormality of the middle ear ORPHANET:1896 TP63 8626 HP:0002213 Fine hair ORPHANET:1896 TP63 8626 HP:0000613 Photophobia ORPHANET:1896 TP63 8626 HP:0000962 Hyperkeratosis ORPHANET:1896 TP63 8626 HP:0008678 Renal hypoplasia/aplasia ORPHANET:1896 TP63 8626 HP:0000492 Abnormality of the eyelid ORPHANET:1896 TP63 8626 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:1896 TP63 8626 HP:0100533 Inflammatory abnormality of the eye ORPHANET:1896 TP63 8626 HP:0009601 Aplasia/Hypoplasia of the thumb ORPHANET:1896 TP63 8626 HP:0002665 Lymphoma ORPHANET:1896 TP63 8626 HP:0000691 Microdontia ORPHANET:1896 TP63 8626 HP:0000966 Hypohidrosis ORPHANET:1896 TP63 8626 HP:0100543 Cognitive impairment OMIM:251270 TUBGCP6 85378 HP:0000340 Sloping forehead OMIM:251270 TUBGCP6 85378 HP:0007703 Abnormal retinal pigmentation OMIM:251270 TUBGCP6 85378 HP:0002059 Cerebral atrophy OMIM:251270 TUBGCP6 85378 HP:0000556 Retinal dystrophy OMIM:251270 TUBGCP6 85378 HP:0000505 Visual impairment OMIM:251270 TUBGCP6 85378 HP:0000543 Optic disc pallor OMIM:251270 TUBGCP6 85378 HP:0001249 Intellectual disability OMIM:251270 TUBGCP6 85378 HP:0000568 Microphthalmos OMIM:251270 TUBGCP6 85378 HP:0001145 Chorioretinopathy OMIM:251270 TUBGCP6 85378 HP:0004322 Short stature OMIM:251270 TUBGCP6 85378 HP:0001263 Global developmental delay OMIM:251270 TUBGCP6 85378 HP:0001321 Cerebellar hypoplasia OMIM:251270 TUBGCP6 85378 HP:0001302 Pachygyria OMIM:251270 TUBGCP6 85378 HP:0000518 Cataract OMIM:251270 TUBGCP6 85378 HP:0001250 Seizures OMIM:251270 TUBGCP6 85378 HP:0009879 Cortical gyral simplification OMIM:251270 TUBGCP6 85378 HP:0000541 Retinal detachment OMIM:251270 TUBGCP6 85378 HP:0000639 Nystagmus OMIM:251270 TUBGCP6 85378 HP:0001000 Abnormality of skin pigmentation OMIM:251270 TUBGCP6 85378 HP:0000007 Autosomal recessive inheritance OMIM:251270 TUBGCP6 85378 HP:0000252 Microcephaly OMIM:612714 COX4I2 84701 HP:0003593 Infantile onset OMIM:612714 COX4I2 84701 HP:0010972 Anemia of inadequate production OMIM:612714 COX4I2 84701 HP:0000007 Autosomal recessive inheritance OMIM:612714 COX4I2 84701 HP:0000938 Osteopenia OMIM:612714 COX4I2 84701 HP:0001263 Global developmental delay OMIM:612714 COX4I2 84701 HP:0001738 Exocrine pancreatic insufficiency OMIM:612714 COX4I2 84701 HP:0000988 Skin rash OMIM:612714 COX4I2 84701 HP:0000952 Jaundice OMIM:612714 COX4I2 84701 HP:0004395 Malnutrition OMIM:612714 COX4I2 84701 HP:0004490 Calvarial hyperostosis OMIM:612714 COX4I2 84701 HP:0001744 Splenomegaly OMIM:612714 COX4I2 84701 HP:0000670 Carious teeth OMIM:612714 COX4I2 84701 HP:0001508 Failure to thrive OMIM:612714 COX4I2 84701 HP:0002570 Steatorrhea OMIM:612714 COX4I2 84701 HP:0002240 Hepatomegaly OMIM:612714 COX4I2 84701 HP:0002750 Delayed skeletal maturation OMIM:612714 COX4I2 84701 HP:0002099 Asthma OMIM:612714 COX4I2 84701 HP:0003193 Allergic rhinitis OMIM:605039 ASXL1 171023 HP:0000294 Low anterior hairline OMIM:605039 ASXL1 171023 HP:0001508 Failure to thrive OMIM:605039 ASXL1 171023 HP:0000276 Long face OMIM:605039 ASXL1 171023 HP:0002365 Hypoplasia of the brainstem OMIM:605039 ASXL1 171023 HP:0000252 Microcephaly OMIM:605039 ASXL1 171023 HP:0100490 Camptodactyly of finger OMIM:605039 ASXL1 171023 HP:0000774 Narrow chest OMIM:605039 ASXL1 171023 HP:0001169 Broad palm OMIM:605039 ASXL1 171023 HP:0006276 Hyperechogenic pancreas OMIM:605039 ASXL1 171023 HP:0000365 Hearing impairment OMIM:605039 ASXL1 171023 HP:0001629 Ventricular septal defect OMIM:605039 ASXL1 171023 HP:0001250 Seizures OMIM:605039 ASXL1 171023 HP:0009891 Underdeveloped supraorbital ridges OMIM:605039 ASXL1 171023 HP:0001376 Limitation of joint mobility OMIM:605039 ASXL1 171023 HP:0001305 Dandy-Walker malformation OMIM:605039 ASXL1 171023 HP:0002558 Supernumerary nipple OMIM:605039 ASXL1 171023 HP:0000520 Proptosis OMIM:605039 ASXL1 171023 HP:0000486 Strabismus OMIM:605039 ASXL1 171023 HP:0000587 Abnormality of the optic nerve OMIM:605039 ASXL1 171023 HP:0000369 Low-set ears OMIM:605039 ASXL1 171023 HP:0004299 Hernia of the abdominal wall OMIM:605039 ASXL1 171023 HP:0000582 Upslanted palpebral fissure OMIM:605039 ASXL1 171023 HP:0000243 Trigonocephaly OMIM:605039 ASXL1 171023 HP:0001732 Abnormality of the pancreas OMIM:605039 ASXL1 171023 HP:0000293 Full cheeks OMIM:605039 ASXL1 171023 HP:0002187 Intellectual disability, profound OMIM:605039 ASXL1 171023 HP:0000488 Retinopathy OMIM:605039 ASXL1 171023 HP:0000175 Cleft palate OMIM:605039 ASXL1 171023 HP:0000189 Narrow palate OMIM:605039 ASXL1 171023 HP:0011220 Prominent forehead OMIM:605039 ASXL1 171023 HP:0000204 Cleft upper lip OMIM:605039 ASXL1 171023 HP:0001561 Polyhydramnios OMIM:605039 ASXL1 171023 HP:0001511 Intrauterine growth retardation OMIM:605039 ASXL1 171023 HP:0000431 Wide nasal bridge OMIM:605039 ASXL1 171023 HP:0000347 Micrognathia OMIM:605039 ASXL1 171023 HP:0001159 Syndactyly OMIM:605039 ASXL1 171023 HP:0011401 Delayed peripheral myelination OMIM:605039 ASXL1 171023 HP:0000545 Myopia OMIM:605039 ASXL1 171023 HP:0001007 Hirsutism OMIM:605039 ASXL1 171023 HP:0001883 Talipes OMIM:605039 ASXL1 171023 HP:0001869 Deep plantar creases OMIM:605039 ASXL1 171023 HP:0000341 Narrow forehead OMIM:605039 ASXL1 171023 HP:0100543 Cognitive impairment OMIM:605039 ASXL1 171023 HP:0000368 Low-set, posteriorly rotated ears OMIM:605039 ASXL1 171023 HP:0005487 Prominent metopic ridge OMIM:605039 ASXL1 171023 HP:0000329 Facial hemangioma OMIM:605039 ASXL1 171023 HP:0002282 Heterotopia OMIM:605039 ASXL1 171023 HP:0001182 Tapered finger OMIM:605039 ASXL1 171023 HP:0001845 Overlapping toe OMIM:605039 ASXL1 171023 HP:0003042 Elbow dislocation OMIM:605039 ASXL1 171023 HP:0005026 Mesomelic/rhizomelic limb shortening OMIM:605039 ASXL1 171023 HP:0000006 Autosomal dominant inheritance OMIM:605039 ASXL1 171023 HP:0002208 Coarse hair OMIM:605039 ASXL1 171023 HP:0000316 Hypertelorism OMIM:605039 ASXL1 171023 HP:0006610 Wide intermamillary distance OMIM:605039 ASXL1 171023 HP:0000664 Synophrys OMIM:605039 ASXL1 171023 HP:0001831 Short toe OMIM:605039 ASXL1 171023 HP:0003049 Ulnar deviation of the wrist OMIM:605039 ASXL1 171023 HP:0000358 Posteriorly rotated ears OMIM:605039 ASXL1 171023 HP:0003083 Dislocated radial head OMIM:605039 ASXL1 171023 HP:0002566 Intestinal malrotation OMIM:605039 ASXL1 171023 HP:0011968 Feeding difficulties OMIM:605039 ASXL1 171023 HP:0000187 Broad alveolar ridges OMIM:605039 ASXL1 171023 HP:0000076 Vesicoureteral reflux OMIM:605039 ASXL1 171023 HP:0002564 Malformation of the heart and great vessels OMIM:605039 ASXL1 171023 HP:0002079 Hypoplasia of the corpus callosum OMIM:605039 ASXL1 171023 HP:0002120 Cerebral cortical atrophy OMIM:605039 ASXL1 171023 HP:0001773 Short foot OMIM:605039 ASXL1 171023 HP:0001252 Muscular hypotonia OMIM:605039 ASXL1 171023 HP:0010306 Short thorax OMIM:605039 ASXL1 171023 HP:0001631 Defect in the atrial septum OMIM:605039 ASXL1 171023 HP:0006191 Deep palmar crease OMIM:605039 ASXL1 171023 HP:0100874 Thick hair OMIM:605039 ASXL1 171023 HP:0000593 Abnormality of the anterior chamber OMIM:605039 ASXL1 171023 HP:0009465 Ulnar deviation of finger OMIM:605039 ASXL1 171023 HP:0000278 Retrognathia OMIM:605039 ASXL1 171023 HP:0001274 Agenesis of corpus callosum OMIM:605039 ASXL1 171023 HP:0000960 Sacral dimple OMIM:605039 ASXL1 171023 HP:0000007 Autosomal recessive inheritance OMIM:605039 ASXL1 171023 HP:0000077 Abnormality of the kidney OMIM:605039 ASXL1 171023 HP:0002020 Gastroesophageal reflux OMIM:605039 ASXL1 171023 HP:0000444 Convex nasal ridge OMIM:605039 ASXL1 171023 HP:0001052 Nevus flammeus OMIM:605039 ASXL1 171023 HP:0001263 Global developmental delay OMIM:605039 ASXL1 171023 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:605039 ASXL1 171023 HP:0012385 Camptodactyly OMIM:132450 COL2A1 1280 HP:0000405 Conductive hearing impairment OMIM:132450 COL2A1 1280 HP:0000545 Myopia OMIM:132450 COL2A1 1280 HP:0005930 Abnormality of epiphysis morphology OMIM:132450 COL2A1 1280 HP:0009803 Short phalanx of finger OMIM:132450 COL2A1 1280 HP:0030329 Retinal thinning OMIM:132450 COL2A1 1280 HP:0001156 Brachydactyly syndrome OMIM:132450 COL2A1 1280 HP:0012368 Flat face OMIM:132450 COL2A1 1280 HP:0002857 Genu valgum OMIM:132450 COL2A1 1280 HP:0000518 Cataract OMIM:132450 COL2A1 1280 HP:0000311 Round face OMIM:132450 COL2A1 1280 HP:0000160 Narrow mouth OMIM:132450 COL2A1 1280 HP:0004322 Short stature OMIM:132450 COL2A1 1280 HP:0002673 Coxa valga OMIM:132450 COL2A1 1280 HP:0001798 Anonychia OMIM:132450 COL2A1 1280 HP:0000006 Autosomal dominant inheritance OMIM:132450 COL2A1 1280 HP:0002656 Epiphyseal dysplasia OMIM:132450 COL2A1 1280 HP:0000272 Malar flattening ORPHANET:1871 PDE6C 5146 HP:0000613 Photophobia ORPHANET:1871 PDE6C 5146 HP:0000505 Visual impairment ORPHANET:1871 PDE6C 5146 HP:0000551 Abnormality of color vision ORPHANET:1871 PDE6C 5146 HP:0007703 Abnormal retinal pigmentation ORPHANET:1871 PDE6C 5146 HP:0000512 Abnormal electroretinogram ORPHANET:1871 GNAT2 2780 HP:0000613 Photophobia ORPHANET:1871 GNAT2 2780 HP:0000505 Visual impairment ORPHANET:1871 GNAT2 2780 HP:0000551 Abnormality of color vision ORPHANET:1871 GNAT2 2780 HP:0007703 Abnormal retinal pigmentation ORPHANET:1871 GNAT2 2780 HP:0000512 Abnormal electroretinogram ORPHANET:1871 CNGB3 54714 HP:0000613 Photophobia ORPHANET:1871 CNGB3 54714 HP:0000505 Visual impairment ORPHANET:1871 CNGB3 54714 HP:0000551 Abnormality of color vision ORPHANET:1871 CNGB3 54714 HP:0007703 Abnormal retinal pigmentation ORPHANET:1871 CNGB3 54714 HP:0000512 Abnormal electroretinogram ORPHANET:1871 GUCA1A 2978 HP:0000613 Photophobia ORPHANET:1871 GUCA1A 2978 HP:0000505 Visual impairment ORPHANET:1871 GUCA1A 2978 HP:0000551 Abnormality of color vision ORPHANET:1871 GUCA1A 2978 HP:0007703 Abnormal retinal pigmentation ORPHANET:1871 GUCA1A 2978 HP:0000512 Abnormal electroretinogram OMIM:265450 BMPR2 659 HP:0002092 Pulmonary hypertension OMIM:265450 BMPR2 659 HP:0006518 Pulmonary venoocclusive disease OMIM:265450 BMPR2 659 HP:0000006 Autosomal dominant inheritance OMIM:228930 WNT7A 7476 HP:0001798 Anonychia OMIM:228930 WNT7A 7476 HP:0001163 Abnormality of the metacarpal bones OMIM:228930 WNT7A 7476 HP:0002866 Hypoplastic iliac wing OMIM:228930 WNT7A 7476 HP:0006443 Patellar aplasia OMIM:228930 WNT7A 7476 HP:0008839 Hypoplastic pelvis OMIM:228930 WNT7A 7476 HP:0001171 Split hand OMIM:228930 WNT7A 7476 HP:0008368 Tarsal synostosis OMIM:228930 WNT7A 7476 HP:0001849 Oligodactyly (feet) OMIM:228930 WNT7A 7476 HP:0009776 Adactyly OMIM:228930 WNT7A 7476 HP:0000368 Low-set, posteriorly rotated ears OMIM:228930 WNT7A 7476 HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones OMIM:228930 WNT7A 7476 HP:0001762 Talipes equinovarus OMIM:228930 WNT7A 7476 HP:0006143 Abnormal finger flexion creases OMIM:228930 WNT7A 7476 HP:0002984 Hypoplasia of the radius OMIM:228930 WNT7A 7476 HP:0000400 Macrotia OMIM:228930 WNT7A 7476 HP:0006101 Finger syndactyly OMIM:228930 WNT7A 7476 HP:0001231 Abnormality of the fingernails OMIM:228930 WNT7A 7476 HP:0009773 Symphalangism affecting the phalanges of the hand OMIM:228930 WNT7A 7476 HP:0000954 Single transverse palmar crease OMIM:228930 WNT7A 7476 HP:0003272 Abnormality of the hip bone OMIM:228930 WNT7A 7476 HP:0009767 Aplasia/Hypoplasia of the phalanges of the hand OMIM:228930 WNT7A 7476 HP:0006492 Aplasia/Hypoplasia of the fibula OMIM:228930 WNT7A 7476 HP:0000141 Amenorrhea OMIM:228930 WNT7A 7476 HP:0006495 Aplasia/Hypoplasia of the ulna OMIM:228930 WNT7A 7476 HP:0004209 Clinodactyly of the 5th finger OMIM:228930 WNT7A 7476 HP:0005613 Aplasia/hypoplasia of the femur OMIM:228930 WNT7A 7476 HP:0002986 Radial bowing OMIM:228930 WNT7A 7476 HP:0000007 Autosomal recessive inheritance OMIM:228930 WNT7A 7476 HP:0001802 Absent toenail OMIM:228930 WNT7A 7476 HP:0002991 Abnormality of the fibula OMIM:228930 WNT7A 7476 HP:0001162 Postaxial hand polydactyly OMIM:228930 WNT7A 7476 HP:0006262 Aplasia/Hypoplasia of the 5th finger OMIM:228930 WNT7A 7476 HP:0002980 Femoral bowing OMIM:228930 WNT7A 7476 HP:0009882 Short distal phalanx of finger OMIM:228930 WNT7A 7476 HP:0002990 Fibular aplasia OMIM:228930 WNT7A 7476 HP:0001770 Toe syndactyly OMIM:228930 WNT7A 7476 HP:0004322 Short stature OMIM:228930 WNT7A 7476 HP:0001180 Oligodactyly (hands) OMIM:228930 WNT7A 7476 HP:0006487 Bowing of the long bones OMIM:228930 WNT7A 7476 HP:0001374 Congenital hip dislocation OMIM:228930 WNT7A 7476 HP:0001964 Aplasia/Hypoplasia of metatarsal bones OMIM:228930 WNT7A 7476 HP:0002823 Abnormality of the femur OMIM:228930 WNT7A 7476 HP:0001883 Talipes OMIM:228930 WNT7A 7476 HP:0009465 Ulnar deviation of finger OMIM:228930 WNT7A 7476 HP:0001800 Hypoplastic toenails OMIM:228930 WNT7A 7476 HP:0010767 Sacrococcygeal pilonidal abnormality OMIM:613490 SERPINA1 5265 HP:0000100 Nephrotic syndrome OMIM:613490 SERPINA1 5265 HP:0006510 Chronic obstructive pulmonary disease OMIM:613490 SERPINA1 5265 HP:0002097 Emphysema OMIM:613490 SERPINA1 5265 HP:0001402 Hepatocellular carcinoma OMIM:613490 SERPINA1 5265 HP:0000007 Autosomal recessive inheritance OMIM:613490 SERPINA1 5265 HP:0001399 Hepatic failure OMIM:613490 SERPINA1 5265 HP:0002910 Elevated hepatic transaminases OMIM:613490 SERPINA1 5265 HP:0002240 Hepatomegaly OMIM:613490 SERPINA1 5265 HP:0001394 Cirrhosis OMIM:607361 TMEM67 91147 HP:0001162 Postaxial hand polydactyly OMIM:607361 TMEM67 91147 HP:0001305 Dandy-Walker malformation OMIM:607361 TMEM67 91147 HP:0000175 Cleft palate OMIM:607361 TMEM67 91147 HP:0010442 Polydactyly OMIM:607361 TMEM67 91147 HP:0000003 Multicystic kidney dysplasia OMIM:607361 TMEM67 91147 HP:0001408 Bile duct proliferation OMIM:607361 TMEM67 91147 HP:0000238 Hydrocephalus OMIM:607361 TMEM67 91147 HP:0000007 Autosomal recessive inheritance OMIM:607361 TMEM67 91147 HP:0001395 Hepatic fibrosis OMIM:607361 TMEM67 91147 HP:0002084 Encephalocele ORPHANET:899 FKRP 79147 HP:0003202 Skeletal muscle atrophy ORPHANET:899 FKRP 79147 HP:0000175 Cleft palate ORPHANET:899 FKRP 79147 HP:0000501 Glaucoma ORPHANET:899 FKRP 79147 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:899 FKRP 79147 HP:0000482 Microcornea ORPHANET:899 FKRP 79147 HP:0000648 Optic atrophy ORPHANET:899 FKRP 79147 HP:0000238 Hydrocephalus ORPHANET:899 FKRP 79147 HP:0001883 Talipes ORPHANET:899 FKRP 79147 HP:0000028 Cryptorchidism ORPHANET:899 FKRP 79147 HP:0001315 Reduced tendon reflexes ORPHANET:899 FKRP 79147 HP:0001252 Muscular hypotonia ORPHANET:899 FKRP 79147 HP:0001324 Muscle weakness ORPHANET:899 FKRP 79147 HP:0000252 Microcephaly ORPHANET:899 FKRP 79147 HP:0000612 Iris coloboma ORPHANET:899 FKRP 79147 HP:0002084 Encephalocele ORPHANET:899 FKRP 79147 HP:0004327 Abnormality of the vitreous humor ORPHANET:899 FKRP 79147 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:899 FKRP 79147 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:899 FKRP 79147 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:899 FKRP 79147 HP:0000256 Macrocephaly ORPHANET:899 FKRP 79147 HP:0002269 Abnormality of neuronal migration ORPHANET:899 FKRP 79147 HP:0100543 Cognitive impairment ORPHANET:899 FKRP 79147 HP:0001250 Seizures ORPHANET:899 FKRP 79147 HP:0007759 Opacification of the corneal stroma ORPHANET:899 FKRP 79147 HP:0000541 Retinal detachment ORPHANET:899 FKRP 79147 HP:0100335 Non-midline cleft lip ORPHANET:899 FKRP 79147 HP:0008736 Hypoplasia of penis ORPHANET:899 FKRP 79147 HP:0010935 Abnormality of the upper urinary tract ORPHANET:899 FKRP 79147 HP:0000377 Abnormality of the pinna ORPHANET:899 FKRP 79147 HP:0001305 Dandy-Walker malformation ORPHANET:899 FKRP 79147 HP:0000532 Chorioretinal abnormality ORPHANET:899 FKRP 79147 HP:0000518 Cataract ORPHANET:899 POMGNT1 55624 HP:0003202 Skeletal muscle atrophy ORPHANET:899 POMGNT1 55624 HP:0000175 Cleft palate ORPHANET:899 POMGNT1 55624 HP:0000501 Glaucoma ORPHANET:899 POMGNT1 55624 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:899 POMGNT1 55624 HP:0000482 Microcornea ORPHANET:899 POMGNT1 55624 HP:0000648 Optic atrophy ORPHANET:899 POMGNT1 55624 HP:0000238 Hydrocephalus ORPHANET:899 POMGNT1 55624 HP:0001883 Talipes ORPHANET:899 POMGNT1 55624 HP:0000028 Cryptorchidism ORPHANET:899 POMGNT1 55624 HP:0001315 Reduced tendon reflexes ORPHANET:899 POMGNT1 55624 HP:0001252 Muscular hypotonia ORPHANET:899 POMGNT1 55624 HP:0001324 Muscle weakness ORPHANET:899 POMGNT1 55624 HP:0000252 Microcephaly ORPHANET:899 POMGNT1 55624 HP:0000612 Iris coloboma ORPHANET:899 POMGNT1 55624 HP:0002084 Encephalocele ORPHANET:899 POMGNT1 55624 HP:0004327 Abnormality of the vitreous humor ORPHANET:899 POMGNT1 55624 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:899 POMGNT1 55624 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:899 POMGNT1 55624 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:899 POMGNT1 55624 HP:0000256 Macrocephaly ORPHANET:899 POMGNT1 55624 HP:0002269 Abnormality of neuronal migration ORPHANET:899 POMGNT1 55624 HP:0100543 Cognitive impairment ORPHANET:899 POMGNT1 55624 HP:0001250 Seizures ORPHANET:899 POMGNT1 55624 HP:0007759 Opacification of the corneal stroma ORPHANET:899 POMGNT1 55624 HP:0000541 Retinal detachment ORPHANET:899 POMGNT1 55624 HP:0100335 Non-midline cleft lip ORPHANET:899 POMGNT1 55624 HP:0008736 Hypoplasia of penis ORPHANET:899 POMGNT1 55624 HP:0010935 Abnormality of the upper urinary tract ORPHANET:899 POMGNT1 55624 HP:0000377 Abnormality of the pinna ORPHANET:899 POMGNT1 55624 HP:0001305 Dandy-Walker malformation ORPHANET:899 POMGNT1 55624 HP:0000532 Chorioretinal abnormality ORPHANET:899 POMGNT1 55624 HP:0000518 Cataract ORPHANET:899 LARGE 9215 HP:0003202 Skeletal muscle atrophy ORPHANET:899 LARGE 9215 HP:0000175 Cleft palate ORPHANET:899 LARGE 9215 HP:0000501 Glaucoma ORPHANET:899 LARGE 9215 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:899 LARGE 9215 HP:0000482 Microcornea ORPHANET:899 LARGE 9215 HP:0000648 Optic atrophy ORPHANET:899 LARGE 9215 HP:0000238 Hydrocephalus ORPHANET:899 LARGE 9215 HP:0001883 Talipes ORPHANET:899 LARGE 9215 HP:0000028 Cryptorchidism ORPHANET:899 LARGE 9215 HP:0001315 Reduced tendon reflexes ORPHANET:899 LARGE 9215 HP:0001252 Muscular hypotonia ORPHANET:899 LARGE 9215 HP:0001324 Muscle weakness ORPHANET:899 LARGE 9215 HP:0000252 Microcephaly ORPHANET:899 LARGE 9215 HP:0000612 Iris coloboma ORPHANET:899 LARGE 9215 HP:0002084 Encephalocele ORPHANET:899 LARGE 9215 HP:0004327 Abnormality of the vitreous humor ORPHANET:899 LARGE 9215 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:899 LARGE 9215 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:899 LARGE 9215 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:899 LARGE 9215 HP:0000256 Macrocephaly ORPHANET:899 LARGE 9215 HP:0002269 Abnormality of neuronal migration ORPHANET:899 LARGE 9215 HP:0100543 Cognitive impairment ORPHANET:899 LARGE 9215 HP:0001250 Seizures ORPHANET:899 LARGE 9215 HP:0007759 Opacification of the corneal stroma ORPHANET:899 LARGE 9215 HP:0000541 Retinal detachment ORPHANET:899 LARGE 9215 HP:0100335 Non-midline cleft lip ORPHANET:899 LARGE 9215 HP:0008736 Hypoplasia of penis ORPHANET:899 LARGE 9215 HP:0010935 Abnormality of the upper urinary tract ORPHANET:899 LARGE 9215 HP:0000377 Abnormality of the pinna ORPHANET:899 LARGE 9215 HP:0001305 Dandy-Walker malformation ORPHANET:899 LARGE 9215 HP:0000532 Chorioretinal abnormality ORPHANET:899 LARGE 9215 HP:0000518 Cataract ORPHANET:899 POMGNT2 84892 HP:0003202 Skeletal muscle atrophy ORPHANET:899 POMGNT2 84892 HP:0000175 Cleft palate ORPHANET:899 POMGNT2 84892 HP:0000501 Glaucoma ORPHANET:899 POMGNT2 84892 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:899 POMGNT2 84892 HP:0000482 Microcornea ORPHANET:899 POMGNT2 84892 HP:0000648 Optic atrophy ORPHANET:899 POMGNT2 84892 HP:0000238 Hydrocephalus ORPHANET:899 POMGNT2 84892 HP:0001883 Talipes ORPHANET:899 POMGNT2 84892 HP:0000028 Cryptorchidism ORPHANET:899 POMGNT2 84892 HP:0001315 Reduced tendon reflexes ORPHANET:899 POMGNT2 84892 HP:0001252 Muscular hypotonia ORPHANET:899 POMGNT2 84892 HP:0001324 Muscle weakness ORPHANET:899 POMGNT2 84892 HP:0000252 Microcephaly ORPHANET:899 POMGNT2 84892 HP:0000612 Iris coloboma ORPHANET:899 POMGNT2 84892 HP:0002084 Encephalocele ORPHANET:899 POMGNT2 84892 HP:0004327 Abnormality of the vitreous humor ORPHANET:899 POMGNT2 84892 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:899 POMGNT2 84892 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:899 POMGNT2 84892 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:899 POMGNT2 84892 HP:0000256 Macrocephaly ORPHANET:899 POMGNT2 84892 HP:0002269 Abnormality of neuronal migration ORPHANET:899 POMGNT2 84892 HP:0100543 Cognitive impairment ORPHANET:899 POMGNT2 84892 HP:0001250 Seizures ORPHANET:899 POMGNT2 84892 HP:0007759 Opacification of the corneal stroma ORPHANET:899 POMGNT2 84892 HP:0000541 Retinal detachment ORPHANET:899 POMGNT2 84892 HP:0100335 Non-midline cleft lip ORPHANET:899 POMGNT2 84892 HP:0008736 Hypoplasia of penis ORPHANET:899 POMGNT2 84892 HP:0010935 Abnormality of the upper urinary tract ORPHANET:899 POMGNT2 84892 HP:0000377 Abnormality of the pinna ORPHANET:899 POMGNT2 84892 HP:0001305 Dandy-Walker malformation ORPHANET:899 POMGNT2 84892 HP:0000532 Chorioretinal abnormality ORPHANET:899 POMGNT2 84892 HP:0000518 Cataract ORPHANET:899 B4GAT1 11041 HP:0003202 Skeletal muscle atrophy ORPHANET:899 B4GAT1 11041 HP:0000175 Cleft palate ORPHANET:899 B4GAT1 11041 HP:0000501 Glaucoma ORPHANET:899 B4GAT1 11041 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:899 B4GAT1 11041 HP:0000482 Microcornea ORPHANET:899 B4GAT1 11041 HP:0000648 Optic atrophy ORPHANET:899 B4GAT1 11041 HP:0000238 Hydrocephalus ORPHANET:899 B4GAT1 11041 HP:0001883 Talipes ORPHANET:899 B4GAT1 11041 HP:0000028 Cryptorchidism ORPHANET:899 B4GAT1 11041 HP:0001315 Reduced tendon reflexes ORPHANET:899 B4GAT1 11041 HP:0001252 Muscular hypotonia ORPHANET:899 B4GAT1 11041 HP:0001324 Muscle weakness ORPHANET:899 B4GAT1 11041 HP:0000252 Microcephaly ORPHANET:899 B4GAT1 11041 HP:0000612 Iris coloboma ORPHANET:899 B4GAT1 11041 HP:0002084 Encephalocele ORPHANET:899 B4GAT1 11041 HP:0004327 Abnormality of the vitreous humor ORPHANET:899 B4GAT1 11041 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:899 B4GAT1 11041 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:899 B4GAT1 11041 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:899 B4GAT1 11041 HP:0000256 Macrocephaly ORPHANET:899 B4GAT1 11041 HP:0002269 Abnormality of neuronal migration ORPHANET:899 B4GAT1 11041 HP:0100543 Cognitive impairment ORPHANET:899 B4GAT1 11041 HP:0001250 Seizures ORPHANET:899 B4GAT1 11041 HP:0007759 Opacification of the corneal stroma ORPHANET:899 B4GAT1 11041 HP:0000541 Retinal detachment ORPHANET:899 B4GAT1 11041 HP:0100335 Non-midline cleft lip ORPHANET:899 B4GAT1 11041 HP:0008736 Hypoplasia of penis ORPHANET:899 B4GAT1 11041 HP:0010935 Abnormality of the upper urinary tract ORPHANET:899 B4GAT1 11041 HP:0000377 Abnormality of the pinna ORPHANET:899 B4GAT1 11041 HP:0001305 Dandy-Walker malformation ORPHANET:899 B4GAT1 11041 HP:0000532 Chorioretinal abnormality ORPHANET:899 B4GAT1 11041 HP:0000518 Cataract ORPHANET:899 ISPD 729920 HP:0003202 Skeletal muscle atrophy ORPHANET:899 ISPD 729920 HP:0000175 Cleft palate ORPHANET:899 ISPD 729920 HP:0000501 Glaucoma ORPHANET:899 ISPD 729920 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:899 ISPD 729920 HP:0000482 Microcornea ORPHANET:899 ISPD 729920 HP:0000648 Optic atrophy ORPHANET:899 ISPD 729920 HP:0000238 Hydrocephalus ORPHANET:899 ISPD 729920 HP:0001883 Talipes ORPHANET:899 ISPD 729920 HP:0000028 Cryptorchidism ORPHANET:899 ISPD 729920 HP:0001315 Reduced tendon reflexes ORPHANET:899 ISPD 729920 HP:0001252 Muscular hypotonia ORPHANET:899 ISPD 729920 HP:0001324 Muscle weakness ORPHANET:899 ISPD 729920 HP:0000252 Microcephaly ORPHANET:899 ISPD 729920 HP:0000612 Iris coloboma ORPHANET:899 ISPD 729920 HP:0002084 Encephalocele ORPHANET:899 ISPD 729920 HP:0004327 Abnormality of the vitreous humor ORPHANET:899 ISPD 729920 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:899 ISPD 729920 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:899 ISPD 729920 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:899 ISPD 729920 HP:0000256 Macrocephaly ORPHANET:899 ISPD 729920 HP:0002269 Abnormality of neuronal migration ORPHANET:899 ISPD 729920 HP:0100543 Cognitive impairment ORPHANET:899 ISPD 729920 HP:0001250 Seizures ORPHANET:899 ISPD 729920 HP:0007759 Opacification of the corneal stroma ORPHANET:899 ISPD 729920 HP:0000541 Retinal detachment ORPHANET:899 ISPD 729920 HP:0100335 Non-midline cleft lip ORPHANET:899 ISPD 729920 HP:0008736 Hypoplasia of penis ORPHANET:899 ISPD 729920 HP:0010935 Abnormality of the upper urinary tract ORPHANET:899 ISPD 729920 HP:0000377 Abnormality of the pinna ORPHANET:899 ISPD 729920 HP:0001305 Dandy-Walker malformation ORPHANET:899 ISPD 729920 HP:0000532 Chorioretinal abnormality ORPHANET:899 ISPD 729920 HP:0000518 Cataract ORPHANET:899 B3GALNT2 148789 HP:0003202 Skeletal muscle atrophy ORPHANET:899 B3GALNT2 148789 HP:0000175 Cleft palate ORPHANET:899 B3GALNT2 148789 HP:0000501 Glaucoma ORPHANET:899 B3GALNT2 148789 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:899 B3GALNT2 148789 HP:0000482 Microcornea ORPHANET:899 B3GALNT2 148789 HP:0000648 Optic atrophy ORPHANET:899 B3GALNT2 148789 HP:0000238 Hydrocephalus ORPHANET:899 B3GALNT2 148789 HP:0001883 Talipes ORPHANET:899 B3GALNT2 148789 HP:0000028 Cryptorchidism ORPHANET:899 B3GALNT2 148789 HP:0001315 Reduced tendon reflexes ORPHANET:899 B3GALNT2 148789 HP:0001252 Muscular hypotonia ORPHANET:899 B3GALNT2 148789 HP:0001324 Muscle weakness ORPHANET:899 B3GALNT2 148789 HP:0000252 Microcephaly ORPHANET:899 B3GALNT2 148789 HP:0000612 Iris coloboma ORPHANET:899 B3GALNT2 148789 HP:0002084 Encephalocele ORPHANET:899 B3GALNT2 148789 HP:0004327 Abnormality of the vitreous humor ORPHANET:899 B3GALNT2 148789 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:899 B3GALNT2 148789 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:899 B3GALNT2 148789 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:899 B3GALNT2 148789 HP:0000256 Macrocephaly ORPHANET:899 B3GALNT2 148789 HP:0002269 Abnormality of neuronal migration ORPHANET:899 B3GALNT2 148789 HP:0100543 Cognitive impairment ORPHANET:899 B3GALNT2 148789 HP:0001250 Seizures ORPHANET:899 B3GALNT2 148789 HP:0007759 Opacification of the corneal stroma ORPHANET:899 B3GALNT2 148789 HP:0000541 Retinal detachment ORPHANET:899 B3GALNT2 148789 HP:0100335 Non-midline cleft lip ORPHANET:899 B3GALNT2 148789 HP:0008736 Hypoplasia of penis ORPHANET:899 B3GALNT2 148789 HP:0010935 Abnormality of the upper urinary tract ORPHANET:899 B3GALNT2 148789 HP:0000377 Abnormality of the pinna ORPHANET:899 B3GALNT2 148789 HP:0001305 Dandy-Walker malformation ORPHANET:899 B3GALNT2 148789 HP:0000532 Chorioretinal abnormality ORPHANET:899 B3GALNT2 148789 HP:0000518 Cataract ORPHANET:899 TMEM5 10329 HP:0003202 Skeletal muscle atrophy ORPHANET:899 TMEM5 10329 HP:0000175 Cleft palate ORPHANET:899 TMEM5 10329 HP:0000501 Glaucoma ORPHANET:899 TMEM5 10329 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:899 TMEM5 10329 HP:0000482 Microcornea ORPHANET:899 TMEM5 10329 HP:0000648 Optic atrophy ORPHANET:899 TMEM5 10329 HP:0000238 Hydrocephalus ORPHANET:899 TMEM5 10329 HP:0001883 Talipes ORPHANET:899 TMEM5 10329 HP:0000028 Cryptorchidism ORPHANET:899 TMEM5 10329 HP:0001315 Reduced tendon reflexes ORPHANET:899 TMEM5 10329 HP:0001252 Muscular hypotonia ORPHANET:899 TMEM5 10329 HP:0001324 Muscle weakness ORPHANET:899 TMEM5 10329 HP:0000252 Microcephaly ORPHANET:899 TMEM5 10329 HP:0000612 Iris coloboma ORPHANET:899 TMEM5 10329 HP:0002084 Encephalocele ORPHANET:899 TMEM5 10329 HP:0004327 Abnormality of the vitreous humor ORPHANET:899 TMEM5 10329 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:899 TMEM5 10329 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:899 TMEM5 10329 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:899 TMEM5 10329 HP:0000256 Macrocephaly ORPHANET:899 TMEM5 10329 HP:0002269 Abnormality of neuronal migration ORPHANET:899 TMEM5 10329 HP:0100543 Cognitive impairment ORPHANET:899 TMEM5 10329 HP:0001250 Seizures ORPHANET:899 TMEM5 10329 HP:0007759 Opacification of the corneal stroma ORPHANET:899 TMEM5 10329 HP:0000541 Retinal detachment ORPHANET:899 TMEM5 10329 HP:0100335 Non-midline cleft lip ORPHANET:899 TMEM5 10329 HP:0008736 Hypoplasia of penis ORPHANET:899 TMEM5 10329 HP:0010935 Abnormality of the upper urinary tract ORPHANET:899 TMEM5 10329 HP:0000377 Abnormality of the pinna ORPHANET:899 TMEM5 10329 HP:0001305 Dandy-Walker malformation ORPHANET:899 TMEM5 10329 HP:0000532 Chorioretinal abnormality ORPHANET:899 TMEM5 10329 HP:0000518 Cataract ORPHANET:899 POMK 84197 HP:0003202 Skeletal muscle atrophy ORPHANET:899 POMK 84197 HP:0000175 Cleft palate ORPHANET:899 POMK 84197 HP:0000501 Glaucoma ORPHANET:899 POMK 84197 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:899 POMK 84197 HP:0000482 Microcornea ORPHANET:899 POMK 84197 HP:0000648 Optic atrophy ORPHANET:899 POMK 84197 HP:0000238 Hydrocephalus ORPHANET:899 POMK 84197 HP:0001883 Talipes ORPHANET:899 POMK 84197 HP:0000028 Cryptorchidism ORPHANET:899 POMK 84197 HP:0001315 Reduced tendon reflexes ORPHANET:899 POMK 84197 HP:0001252 Muscular hypotonia ORPHANET:899 POMK 84197 HP:0001324 Muscle weakness ORPHANET:899 POMK 84197 HP:0000252 Microcephaly ORPHANET:899 POMK 84197 HP:0000612 Iris coloboma ORPHANET:899 POMK 84197 HP:0002084 Encephalocele ORPHANET:899 POMK 84197 HP:0004327 Abnormality of the vitreous humor ORPHANET:899 POMK 84197 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:899 POMK 84197 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:899 POMK 84197 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:899 POMK 84197 HP:0000256 Macrocephaly ORPHANET:899 POMK 84197 HP:0002269 Abnormality of neuronal migration ORPHANET:899 POMK 84197 HP:0100543 Cognitive impairment ORPHANET:899 POMK 84197 HP:0001250 Seizures ORPHANET:899 POMK 84197 HP:0007759 Opacification of the corneal stroma ORPHANET:899 POMK 84197 HP:0000541 Retinal detachment ORPHANET:899 POMK 84197 HP:0100335 Non-midline cleft lip ORPHANET:899 POMK 84197 HP:0008736 Hypoplasia of penis ORPHANET:899 POMK 84197 HP:0010935 Abnormality of the upper urinary tract ORPHANET:899 POMK 84197 HP:0000377 Abnormality of the pinna ORPHANET:899 POMK 84197 HP:0001305 Dandy-Walker malformation ORPHANET:899 POMK 84197 HP:0000532 Chorioretinal abnormality ORPHANET:899 POMK 84197 HP:0000518 Cataract ORPHANET:899 FKTN 2218 HP:0003202 Skeletal muscle atrophy ORPHANET:899 FKTN 2218 HP:0000175 Cleft palate ORPHANET:899 FKTN 2218 HP:0000501 Glaucoma ORPHANET:899 FKTN 2218 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:899 FKTN 2218 HP:0000482 Microcornea ORPHANET:899 FKTN 2218 HP:0000648 Optic atrophy ORPHANET:899 FKTN 2218 HP:0000238 Hydrocephalus ORPHANET:899 FKTN 2218 HP:0001883 Talipes ORPHANET:899 FKTN 2218 HP:0000028 Cryptorchidism ORPHANET:899 FKTN 2218 HP:0001315 Reduced tendon reflexes ORPHANET:899 FKTN 2218 HP:0001252 Muscular hypotonia ORPHANET:899 FKTN 2218 HP:0001324 Muscle weakness ORPHANET:899 FKTN 2218 HP:0000252 Microcephaly ORPHANET:899 FKTN 2218 HP:0000612 Iris coloboma ORPHANET:899 FKTN 2218 HP:0002084 Encephalocele ORPHANET:899 FKTN 2218 HP:0004327 Abnormality of the vitreous humor ORPHANET:899 FKTN 2218 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:899 FKTN 2218 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:899 FKTN 2218 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:899 FKTN 2218 HP:0000256 Macrocephaly ORPHANET:899 FKTN 2218 HP:0002269 Abnormality of neuronal migration ORPHANET:899 FKTN 2218 HP:0100543 Cognitive impairment ORPHANET:899 FKTN 2218 HP:0001250 Seizures ORPHANET:899 FKTN 2218 HP:0007759 Opacification of the corneal stroma ORPHANET:899 FKTN 2218 HP:0000541 Retinal detachment ORPHANET:899 FKTN 2218 HP:0100335 Non-midline cleft lip ORPHANET:899 FKTN 2218 HP:0008736 Hypoplasia of penis ORPHANET:899 FKTN 2218 HP:0010935 Abnormality of the upper urinary tract ORPHANET:899 FKTN 2218 HP:0000377 Abnormality of the pinna ORPHANET:899 FKTN 2218 HP:0001305 Dandy-Walker malformation ORPHANET:899 FKTN 2218 HP:0000532 Chorioretinal abnormality ORPHANET:899 FKTN 2218 HP:0000518 Cataract ORPHANET:899 COL4A1 1282 HP:0003202 Skeletal muscle atrophy ORPHANET:899 COL4A1 1282 HP:0000175 Cleft palate ORPHANET:899 COL4A1 1282 HP:0000501 Glaucoma ORPHANET:899 COL4A1 1282 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:899 COL4A1 1282 HP:0000482 Microcornea ORPHANET:899 COL4A1 1282 HP:0000648 Optic atrophy ORPHANET:899 COL4A1 1282 HP:0000238 Hydrocephalus ORPHANET:899 COL4A1 1282 HP:0001883 Talipes ORPHANET:899 COL4A1 1282 HP:0000028 Cryptorchidism ORPHANET:899 COL4A1 1282 HP:0001315 Reduced tendon reflexes ORPHANET:899 COL4A1 1282 HP:0001252 Muscular hypotonia ORPHANET:899 COL4A1 1282 HP:0001324 Muscle weakness ORPHANET:899 COL4A1 1282 HP:0000252 Microcephaly ORPHANET:899 COL4A1 1282 HP:0000612 Iris coloboma ORPHANET:899 COL4A1 1282 HP:0002084 Encephalocele ORPHANET:899 COL4A1 1282 HP:0004327 Abnormality of the vitreous humor ORPHANET:899 COL4A1 1282 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:899 COL4A1 1282 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:899 COL4A1 1282 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:899 COL4A1 1282 HP:0000256 Macrocephaly ORPHANET:899 COL4A1 1282 HP:0002269 Abnormality of neuronal migration ORPHANET:899 COL4A1 1282 HP:0100543 Cognitive impairment ORPHANET:899 COL4A1 1282 HP:0001250 Seizures ORPHANET:899 COL4A1 1282 HP:0007759 Opacification of the corneal stroma ORPHANET:899 COL4A1 1282 HP:0000541 Retinal detachment ORPHANET:899 COL4A1 1282 HP:0100335 Non-midline cleft lip ORPHANET:899 COL4A1 1282 HP:0008736 Hypoplasia of penis ORPHANET:899 COL4A1 1282 HP:0010935 Abnormality of the upper urinary tract ORPHANET:899 COL4A1 1282 HP:0000377 Abnormality of the pinna ORPHANET:899 COL4A1 1282 HP:0001305 Dandy-Walker malformation ORPHANET:899 COL4A1 1282 HP:0000532 Chorioretinal abnormality ORPHANET:899 COL4A1 1282 HP:0000518 Cataract ORPHANET:899 POMT1 10585 HP:0003202 Skeletal muscle atrophy ORPHANET:899 POMT1 10585 HP:0000175 Cleft palate ORPHANET:899 POMT1 10585 HP:0000501 Glaucoma ORPHANET:899 POMT1 10585 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:899 POMT1 10585 HP:0000482 Microcornea ORPHANET:899 POMT1 10585 HP:0000648 Optic atrophy ORPHANET:899 POMT1 10585 HP:0000238 Hydrocephalus ORPHANET:899 POMT1 10585 HP:0001883 Talipes ORPHANET:899 POMT1 10585 HP:0000028 Cryptorchidism ORPHANET:899 POMT1 10585 HP:0001315 Reduced tendon reflexes ORPHANET:899 POMT1 10585 HP:0001252 Muscular hypotonia ORPHANET:899 POMT1 10585 HP:0001324 Muscle weakness ORPHANET:899 POMT1 10585 HP:0000252 Microcephaly ORPHANET:899 POMT1 10585 HP:0000612 Iris coloboma ORPHANET:899 POMT1 10585 HP:0002084 Encephalocele ORPHANET:899 POMT1 10585 HP:0004327 Abnormality of the vitreous humor ORPHANET:899 POMT1 10585 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:899 POMT1 10585 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:899 POMT1 10585 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:899 POMT1 10585 HP:0000256 Macrocephaly ORPHANET:899 POMT1 10585 HP:0002269 Abnormality of neuronal migration ORPHANET:899 POMT1 10585 HP:0100543 Cognitive impairment ORPHANET:899 POMT1 10585 HP:0001250 Seizures ORPHANET:899 POMT1 10585 HP:0007759 Opacification of the corneal stroma ORPHANET:899 POMT1 10585 HP:0000541 Retinal detachment ORPHANET:899 POMT1 10585 HP:0100335 Non-midline cleft lip ORPHANET:899 POMT1 10585 HP:0008736 Hypoplasia of penis ORPHANET:899 POMT1 10585 HP:0010935 Abnormality of the upper urinary tract ORPHANET:899 POMT1 10585 HP:0000377 Abnormality of the pinna ORPHANET:899 POMT1 10585 HP:0001305 Dandy-Walker malformation ORPHANET:899 POMT1 10585 HP:0000532 Chorioretinal abnormality ORPHANET:899 POMT1 10585 HP:0000518 Cataract ORPHANET:899 POMT2 29954 HP:0003202 Skeletal muscle atrophy ORPHANET:899 POMT2 29954 HP:0000175 Cleft palate ORPHANET:899 POMT2 29954 HP:0000501 Glaucoma ORPHANET:899 POMT2 29954 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:899 POMT2 29954 HP:0000482 Microcornea ORPHANET:899 POMT2 29954 HP:0000648 Optic atrophy ORPHANET:899 POMT2 29954 HP:0000238 Hydrocephalus ORPHANET:899 POMT2 29954 HP:0001883 Talipes ORPHANET:899 POMT2 29954 HP:0000028 Cryptorchidism ORPHANET:899 POMT2 29954 HP:0001315 Reduced tendon reflexes ORPHANET:899 POMT2 29954 HP:0001252 Muscular hypotonia ORPHANET:899 POMT2 29954 HP:0001324 Muscle weakness ORPHANET:899 POMT2 29954 HP:0000252 Microcephaly ORPHANET:899 POMT2 29954 HP:0000612 Iris coloboma ORPHANET:899 POMT2 29954 HP:0002084 Encephalocele ORPHANET:899 POMT2 29954 HP:0004327 Abnormality of the vitreous humor ORPHANET:899 POMT2 29954 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:899 POMT2 29954 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:899 POMT2 29954 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:899 POMT2 29954 HP:0000256 Macrocephaly ORPHANET:899 POMT2 29954 HP:0002269 Abnormality of neuronal migration ORPHANET:899 POMT2 29954 HP:0100543 Cognitive impairment ORPHANET:899 POMT2 29954 HP:0001250 Seizures ORPHANET:899 POMT2 29954 HP:0007759 Opacification of the corneal stroma ORPHANET:899 POMT2 29954 HP:0000541 Retinal detachment ORPHANET:899 POMT2 29954 HP:0100335 Non-midline cleft lip ORPHANET:899 POMT2 29954 HP:0008736 Hypoplasia of penis ORPHANET:899 POMT2 29954 HP:0010935 Abnormality of the upper urinary tract ORPHANET:899 POMT2 29954 HP:0000377 Abnormality of the pinna ORPHANET:899 POMT2 29954 HP:0001305 Dandy-Walker malformation ORPHANET:899 POMT2 29954 HP:0000532 Chorioretinal abnormality ORPHANET:899 POMT2 29954 HP:0000518 Cataract OMIM:160980 PRKAR1A 5573 HP:0100008 Schwannoma OMIM:160980 PRKAR1A 5573 HP:0001007 Hirsutism OMIM:160980 PRKAR1A 5573 HP:0002890 Thyroid carcinoma OMIM:160980 PRKAR1A 5573 HP:0002297 Red hair OMIM:160980 PRKAR1A 5573 HP:0008225 Thyroid follicular hyperplasia OMIM:160980 PRKAR1A 5573 HP:0001635 Congestive heart failure OMIM:160980 PRKAR1A 5573 HP:0003764 Nevus OMIM:160980 PRKAR1A 5573 HP:0001480 Freckling OMIM:160980 PRKAR1A 5573 HP:0005587 Profuse pigmented skin lesions OMIM:160980 PRKAR1A 5573 HP:0000006 Autosomal dominant inheritance OMIM:160980 PRKAR1A 5573 HP:0002666 Pheochromocytoma OMIM:160980 PRKAR1A 5573 HP:0000845 Growth hormone excess OMIM:160980 PRKAR1A 5573 HP:0000478 Abnormality of the eye OMIM:160980 PRKAR1A 5573 HP:0006769 Myxoid subcutaneous tumors OMIM:160980 PRKAR1A 5573 HP:0002893 Pituitary adenoma OMIM:607821 MYO6 4646 HP:0000407 Sensorineural hearing impairment OMIM:607821 MYO6 4646 HP:0001751 Vestibular dysfunction OMIM:607821 MYO6 4646 HP:0000007 Autosomal recessive inheritance OMIM:300539 AVPR2 554 HP:0002902 Hyponatremia OMIM:300539 AVPR2 554 HP:0012605 Hypernatriuria OMIM:300539 AVPR2 554 HP:0001419 X-linked recessive inheritance OMIM:300539 AVPR2 554 HP:0000737 Irritability OMIM:300539 AVPR2 554 HP:0001250 Seizures OMIM:300539 AVPR2 554 HP:0003351 Decreased circulating renin level OMIM:300539 AVPR2 554 HP:0004421 Elevated systolic blood pressure OMIM:277410 MMADHC 27249 HP:0002497 Spastic ataxia OMIM:277410 MMADHC 27249 HP:0001250 Seizures OMIM:277410 MMADHC 27249 HP:0001889 Megaloblastic anemia OMIM:277410 MMADHC 27249 HP:0001252 Muscular hypotonia OMIM:277410 MMADHC 27249 HP:0001254 Lethargy OMIM:277410 MMADHC 27249 HP:0003593 Infantile onset OMIM:277410 MMADHC 27249 HP:0003223 Decreased methylcobalamin OMIM:277410 MMADHC 27249 HP:0002120 Cerebral cortical atrophy OMIM:277410 MMADHC 27249 HP:0003658 Hypomethioninemia OMIM:277410 MMADHC 27249 HP:0004372 Reduced consciousness/confusion OMIM:277410 MMADHC 27249 HP:0003145 Decreased adenosylcobalamin OMIM:277410 MMADHC 27249 HP:0000980 Pallor OMIM:277410 MMADHC 27249 HP:0100543 Cognitive impairment OMIM:277410 MMADHC 27249 HP:0003210 Decreased methylmalonyl-CoA mutase activity OMIM:277410 MMADHC 27249 HP:0002912 Methylmalonic acidemia OMIM:277410 MMADHC 27249 HP:0001332 Dystonia OMIM:277410 MMADHC 27249 HP:0001249 Intellectual disability OMIM:277410 MMADHC 27249 HP:0002160 Hyperhomocystinemia OMIM:277410 MMADHC 27249 HP:0000007 Autosomal recessive inheritance OMIM:277410 MMADHC 27249 HP:0003524 Decreased methionine synthase activity OMIM:277410 MMADHC 27249 HP:0002156 Homocystinuria OMIM:277410 MMADHC 27249 HP:0001288 Gait disturbance OMIM:277410 MMADHC 27249 HP:0002039 Anorexia OMIM:277410 MMADHC 27249 HP:0005518 Erythrocyte macrocytosis OMIM:277410 MMADHC 27249 HP:0001263 Global developmental delay OMIM:277410 MMADHC 27249 HP:0000639 Nystagmus OMIM:277410 MMADHC 27249 HP:0000708 Behavioral abnormality OMIM:277410 MMADHC 27249 HP:0012120 Methylmalonic aciduria OMIM:615415 NEK8 284086 HP:0001562 Oligohydramnios OMIM:615415 NEK8 284086 HP:0000800 Cystic renal dysplasia OMIM:615415 NEK8 284086 HP:0001395 Hepatic fibrosis OMIM:615415 NEK8 284086 HP:0001660 Truncus arteriosus OMIM:615415 NEK8 284086 HP:0003826 Stillbirth OMIM:615415 NEK8 284086 HP:0000105 Enlarged kidneys OMIM:615415 NEK8 284086 HP:0001696 Situs inversus totalis OMIM:615415 NEK8 284086 HP:0002089 Pulmonary hypoplasia OMIM:615415 NEK8 284086 HP:0001762 Talipes equinovarus OMIM:615415 NEK8 284086 HP:0002980 Femoral bowing OMIM:615415 NEK8 284086 HP:0003577 Congenital onset OMIM:615415 NEK8 284086 HP:0000007 Autosomal recessive inheritance OMIM:615415 NEK8 284086 HP:0001746 Asplenia OMIM:248190 CLDN19 149461 HP:0001537 Umbilical hernia OMIM:248190 CLDN19 149461 HP:0000121 Nephrocalcinosis OMIM:248190 CLDN19 149461 HP:0000007 Autosomal recessive inheritance OMIM:248190 CLDN19 149461 HP:0000545 Myopia OMIM:248190 CLDN19 149461 HP:0000010 Recurrent urinary tract infections OMIM:248190 CLDN19 149461 HP:0000112 Nephropathy OMIM:248190 CLDN19 149461 HP:0000787 Nephrolithiasis OMIM:248190 CLDN19 149461 HP:0002150 Hypercalciuria OMIM:248190 CLDN19 149461 HP:0005567 Renal magnesium wasting OMIM:248190 CLDN19 149461 HP:0000547 Tapetoretinal degeneration OMIM:248190 CLDN19 149461 HP:0002917 Hypomagnesemia OMIM:248190 CLDN19 149461 HP:0012637 Renal calcium wasting OMIM:248190 CLDN19 149461 HP:0100530 Abnormality of calcium-phosphate metabolism OMIM:248190 CLDN19 149461 HP:0001116 Macular coloboma OMIM:248190 CLDN19 149461 HP:0007703 Abnormal retinal pigmentation OMIM:248190 CLDN19 149461 HP:0000567 Chorioretinal coloboma OMIM:248190 CLDN19 149461 HP:0000639 Nystagmus OMIM:248190 CLDN19 149461 HP:0012608 Hypermagnesiuria OMIM:248190 CLDN19 149461 HP:0012622 Chronic kidney disease OMIM:248190 CLDN19 149461 HP:0000790 Hematuria OMIM:614257 EPB41L1 2036 HP:0000006 Autosomal dominant inheritance OMIM:614257 EPB41L1 2036 HP:0001249 Intellectual disability OMIM:615523 AGBL1 123624 HP:0000006 Autosomal dominant inheritance OMIM:615523 AGBL1 123624 HP:0001131 Corneal dystrophy OMIM:615767 IL21 59067 HP:0002205 Recurrent respiratory infections OMIM:615767 IL21 59067 HP:0002028 Chronic diarrhea OMIM:615767 IL21 59067 HP:0002721 Immunodeficiency OMIM:615767 IL21 59067 HP:0002037 Inflammation of the large intestine OMIM:615767 IL21 59067 HP:0001510 Growth delay OMIM:615767 IL21 59067 HP:0004313 Hypogammaglobulinemia OMIM:615767 IL21 59067 HP:0001508 Failure to thrive OMIM:607676 IRAK4 51135 HP:0002721 Immunodeficiency OMIM:607676 IRAK4 51135 HP:0100763 Abnormality of the lymphatic system OMIM:607676 IRAK4 51135 HP:0001874 Abnormality of neutrophils OMIM:607676 IRAK4 51135 HP:0010978 Abnormality of immune system physiology OMIM:119800 PITX1 5307 HP:0001762 Talipes equinovarus OMIM:119800 PITX1 5307 HP:0000006 Autosomal dominant inheritance OMIM:119800 PITX1 5307 HP:0003065 Patellar hypoplasia OMIM:119800 PITX1 5307 HP:0003829 Incomplete penetrance OMIM:119800 PITX1 5307 HP:0001829 Foot polydactyly OMIM:142900 TBX5 6910 HP:0003468 Abnormality of the vertebrae OMIM:142900 TBX5 6910 HP:0004383 Hypoplastic left heart OMIM:142900 TBX5 6910 HP:0003019 Abnormality of the wrist OMIM:142900 TBX5 6910 HP:0001191 Abnormality of the carpal bones OMIM:142900 TBX5 6910 HP:0001674 Complete atrioventricular canal defect OMIM:142900 TBX5 6910 HP:0002984 Hypoplasia of the radius OMIM:142900 TBX5 6910 HP:0003063 Abnormality of the humerus OMIM:142900 TBX5 6910 HP:0002943 Thoracic scoliosis OMIM:142900 TBX5 6910 HP:0000766 Abnormality of the sternum OMIM:142900 TBX5 6910 HP:0006101 Finger syndactyly OMIM:142900 TBX5 6910 HP:0000006 Autosomal dominant inheritance OMIM:142900 TBX5 6910 HP:0001679 Abnormality of the aorta OMIM:142900 TBX5 6910 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:142900 TBX5 6910 HP:0000767 Pectus excavatum OMIM:142900 TBX5 6910 HP:0001631 Defect in the atrial septum OMIM:142900 TBX5 6910 HP:0009829 Phocomelia OMIM:142900 TBX5 6910 HP:0002974 Radioulnar synostosis OMIM:142900 TBX5 6910 HP:0001199 Triphalangeal thumb OMIM:142900 TBX5 6910 HP:0001643 Patent ductus arteriosus OMIM:142900 TBX5 6910 HP:0002650 Scoliosis OMIM:142900 TBX5 6910 HP:0001629 Ventricular septal defect OMIM:142900 TBX5 6910 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:142900 TBX5 6910 HP:0000912 Sprengel anomaly OMIM:142900 TBX5 6910 HP:0011675 Arrhythmia OMIM:142900 TBX5 6910 HP:0009944 Partial duplication of thumb phalanx OMIM:142900 TBX5 6910 HP:0000772 Abnormality of the ribs OMIM:142900 TBX5 6910 HP:0003043 Abnormality of the shoulder OMIM:142900 TBX5 6910 HP:0010772 Anomalous pulmonary venous return OMIM:142900 TBX5 6910 HP:0009751 Aplasia of the pectoralis major muscle OMIM:142900 TBX5 6910 HP:0001163 Abnormality of the metacarpal bones OMIM:142900 TBX5 6910 HP:0009777 Absent thumb OMIM:220500 TBC1D24 57465 HP:0002164 Nail dysplasia OMIM:220500 TBC1D24 57465 HP:0001305 Dandy-Walker malformation OMIM:220500 TBC1D24 57465 HP:0000648 Optic atrophy OMIM:220500 TBC1D24 57465 HP:0000232 Everted lower lip vermilion OMIM:220500 TBC1D24 57465 HP:0000252 Microcephaly OMIM:220500 TBC1D24 57465 HP:0000369 Low-set ears OMIM:220500 TBC1D24 57465 HP:0008619 Bilateral sensorineural hearing impairment OMIM:220500 TBC1D24 57465 HP:0000218 High palate OMIM:220500 TBC1D24 57465 HP:0001156 Brachydactyly syndrome OMIM:220500 TBC1D24 57465 HP:0000800 Cystic renal dysplasia OMIM:220500 TBC1D24 57465 HP:0000343 Long philtrum OMIM:220500 TBC1D24 57465 HP:0003676 Progressive disorder OMIM:220500 TBC1D24 57465 HP:0000007 Autosomal recessive inheritance OMIM:220500 TBC1D24 57465 HP:0000518 Cataract OMIM:220500 TBC1D24 57465 HP:0000407 Sensorineural hearing impairment OMIM:220500 TBC1D24 57465 HP:0001798 Anonychia OMIM:220500 TBC1D24 57465 HP:0002059 Cerebral atrophy OMIM:220500 TBC1D24 57465 HP:0001249 Intellectual disability OMIM:220500 TBC1D24 57465 HP:0001265 Hyporeflexia OMIM:220500 TBC1D24 57465 HP:0000280 Coarse facial features OMIM:220500 TBC1D24 57465 HP:0001252 Muscular hypotonia OMIM:220500 TBC1D24 57465 HP:0000431 Wide nasal bridge OMIM:220500 TBC1D24 57465 HP:0011476 Profound sensorineural hearing impairment OMIM:220500 TBC1D24 57465 HP:0009882 Short distal phalanx of finger OMIM:220500 TBC1D24 57465 HP:0000448 Prominent nose OMIM:220500 TBC1D24 57465 HP:0000414 Bulbous nose OMIM:220500 TBC1D24 57465 HP:0002714 Downturned corners of mouth OMIM:220500 TBC1D24 57465 HP:0001199 Triphalangeal thumb OMIM:220500 TBC1D24 57465 HP:0008404 Nail dystrophy OMIM:220500 TBC1D24 57465 HP:0000104 Renal agenesis OMIM:220500 TBC1D24 57465 HP:0000618 Blindness OMIM:220500 TBC1D24 57465 HP:0001250 Seizures OMIM:220500 TBC1D24 57465 HP:0011003 Severe Myopia OMIM:220500 TBC1D24 57465 HP:0000463 Anteverted nares OMIM:220500 TBC1D24 57465 HP:0000951 Abnormality of the skin OMIM:220500 TBC1D24 57465 HP:0002564 Malformation of the heart and great vessels OMIM:606176 INS 3630 HP:0000343 Long philtrum OMIM:606176 INS 3630 HP:0006279 Beta-cell dysfunction OMIM:606176 INS 3630 HP:0000463 Anteverted nares OMIM:606176 INS 3630 HP:0001518 Small for gestational age OMIM:606176 INS 3630 HP:0001511 Intrauterine growth retardation OMIM:606176 INS 3630 HP:0000508 Ptosis OMIM:606176 INS 3630 HP:0030084 Clinodactyly OMIM:606176 INS 3630 HP:0001263 Global developmental delay OMIM:606176 INS 3630 HP:0001993 Ketoacidosis OMIM:606176 INS 3630 HP:0005487 Prominent metopic ridge OMIM:606176 INS 3630 HP:0003121 Limb joint contracture OMIM:606176 INS 3630 HP:0002715 Abnormality of the immune system OMIM:606176 INS 3630 HP:0003196 Short nose OMIM:606176 INS 3630 HP:0009466 Radial deviation of finger OMIM:606176 INS 3630 HP:0000598 Abnormality of the ear OMIM:606176 INS 3630 HP:0002714 Downturned corners of mouth OMIM:606176 INS 3630 HP:0001270 Motor delay OMIM:606176 INS 3630 HP:0001250 Seizures OMIM:606176 INS 3630 HP:0002521 Hypsarrhythmia OMIM:606176 INS 3630 HP:0008936 Muscular hypotonia of the trunk OMIM:606176 INS 3630 HP:0009830 Peripheral neuropathy OMIM:606176 INS 3630 HP:0001324 Muscle weakness OMIM:606176 INS 3630 HP:0000006 Autosomal dominant inheritance OMIM:606176 INS 3630 HP:0000819 Diabetes mellitus OMIM:606176 INS 3630 HP:0003074 Hyperglycemia OMIM:606176 KCNJ11 3767 HP:0000343 Long philtrum OMIM:606176 KCNJ11 3767 HP:0006279 Beta-cell dysfunction OMIM:606176 KCNJ11 3767 HP:0000463 Anteverted nares OMIM:606176 KCNJ11 3767 HP:0001518 Small for gestational age OMIM:606176 KCNJ11 3767 HP:0001511 Intrauterine growth retardation OMIM:606176 KCNJ11 3767 HP:0000508 Ptosis OMIM:606176 KCNJ11 3767 HP:0030084 Clinodactyly OMIM:606176 KCNJ11 3767 HP:0001263 Global developmental delay OMIM:606176 KCNJ11 3767 HP:0001993 Ketoacidosis OMIM:606176 KCNJ11 3767 HP:0005487 Prominent metopic ridge OMIM:606176 KCNJ11 3767 HP:0003121 Limb joint contracture OMIM:606176 KCNJ11 3767 HP:0002715 Abnormality of the immune system OMIM:606176 KCNJ11 3767 HP:0003196 Short nose OMIM:606176 KCNJ11 3767 HP:0009466 Radial deviation of finger OMIM:606176 KCNJ11 3767 HP:0000598 Abnormality of the ear OMIM:606176 KCNJ11 3767 HP:0002714 Downturned corners of mouth OMIM:606176 KCNJ11 3767 HP:0001270 Motor delay OMIM:606176 KCNJ11 3767 HP:0001250 Seizures OMIM:606176 KCNJ11 3767 HP:0002521 Hypsarrhythmia OMIM:606176 KCNJ11 3767 HP:0008936 Muscular hypotonia of the trunk OMIM:606176 KCNJ11 3767 HP:0009830 Peripheral neuropathy OMIM:606176 KCNJ11 3767 HP:0001324 Muscle weakness OMIM:606176 KCNJ11 3767 HP:0000006 Autosomal dominant inheritance OMIM:606176 KCNJ11 3767 HP:0000819 Diabetes mellitus OMIM:606176 KCNJ11 3767 HP:0003074 Hyperglycemia OMIM:606176 GCK 2645 HP:0000343 Long philtrum OMIM:606176 GCK 2645 HP:0006279 Beta-cell dysfunction OMIM:606176 GCK 2645 HP:0000463 Anteverted nares OMIM:606176 GCK 2645 HP:0001518 Small for gestational age OMIM:606176 GCK 2645 HP:0001511 Intrauterine growth retardation OMIM:606176 GCK 2645 HP:0000508 Ptosis OMIM:606176 GCK 2645 HP:0030084 Clinodactyly OMIM:606176 GCK 2645 HP:0001263 Global developmental delay OMIM:606176 GCK 2645 HP:0001993 Ketoacidosis OMIM:606176 GCK 2645 HP:0005487 Prominent metopic ridge OMIM:606176 GCK 2645 HP:0003121 Limb joint contracture OMIM:606176 GCK 2645 HP:0002715 Abnormality of the immune system OMIM:606176 GCK 2645 HP:0003196 Short nose OMIM:606176 GCK 2645 HP:0009466 Radial deviation of finger OMIM:606176 GCK 2645 HP:0000598 Abnormality of the ear OMIM:606176 GCK 2645 HP:0002714 Downturned corners of mouth OMIM:606176 GCK 2645 HP:0001270 Motor delay OMIM:606176 GCK 2645 HP:0001250 Seizures OMIM:606176 GCK 2645 HP:0002521 Hypsarrhythmia OMIM:606176 GCK 2645 HP:0008936 Muscular hypotonia of the trunk OMIM:606176 GCK 2645 HP:0009830 Peripheral neuropathy OMIM:606176 GCK 2645 HP:0001324 Muscle weakness OMIM:606176 GCK 2645 HP:0000006 Autosomal dominant inheritance OMIM:606176 GCK 2645 HP:0000819 Diabetes mellitus OMIM:606176 GCK 2645 HP:0003074 Hyperglycemia OMIM:606176 ABCC8 6833 HP:0000343 Long philtrum OMIM:606176 ABCC8 6833 HP:0006279 Beta-cell dysfunction OMIM:606176 ABCC8 6833 HP:0000463 Anteverted nares OMIM:606176 ABCC8 6833 HP:0001518 Small for gestational age OMIM:606176 ABCC8 6833 HP:0001511 Intrauterine growth retardation OMIM:606176 ABCC8 6833 HP:0000508 Ptosis OMIM:606176 ABCC8 6833 HP:0030084 Clinodactyly OMIM:606176 ABCC8 6833 HP:0001263 Global developmental delay OMIM:606176 ABCC8 6833 HP:0001993 Ketoacidosis OMIM:606176 ABCC8 6833 HP:0005487 Prominent metopic ridge OMIM:606176 ABCC8 6833 HP:0003121 Limb joint contracture OMIM:606176 ABCC8 6833 HP:0002715 Abnormality of the immune system OMIM:606176 ABCC8 6833 HP:0003196 Short nose OMIM:606176 ABCC8 6833 HP:0009466 Radial deviation of finger OMIM:606176 ABCC8 6833 HP:0000598 Abnormality of the ear OMIM:606176 ABCC8 6833 HP:0002714 Downturned corners of mouth OMIM:606176 ABCC8 6833 HP:0001270 Motor delay OMIM:606176 ABCC8 6833 HP:0001250 Seizures OMIM:606176 ABCC8 6833 HP:0002521 Hypsarrhythmia OMIM:606176 ABCC8 6833 HP:0008936 Muscular hypotonia of the trunk OMIM:606176 ABCC8 6833 HP:0009830 Peripheral neuropathy OMIM:606176 ABCC8 6833 HP:0001324 Muscle weakness OMIM:606176 ABCC8 6833 HP:0000006 Autosomal dominant inheritance OMIM:606176 ABCC8 6833 HP:0000819 Diabetes mellitus OMIM:606176 ABCC8 6833 HP:0003074 Hyperglycemia ORPHANET:2995 ACTG1 71 HP:0100543 Cognitive impairment ORPHANET:2995 ACTG1 71 HP:0000470 Short neck ORPHANET:2995 ACTG1 71 HP:0000494 Downslanted palpebral fissures ORPHANET:2995 ACTG1 71 HP:0002650 Scoliosis ORPHANET:2995 ACTG1 71 HP:0000243 Trigonocephaly ORPHANET:2995 ACTG1 71 HP:0000307 Pointed chin ORPHANET:2995 ACTG1 71 HP:0000252 Microcephaly ORPHANET:2995 ACTG1 71 HP:0000347 Micrognathia ORPHANET:2995 ACTG1 71 HP:0000588 Optic nerve coloboma ORPHANET:2995 ACTG1 71 HP:0002167 Neurological speech impairment ORPHANET:2995 ACTG1 71 HP:0002120 Cerebral cortical atrophy ORPHANET:2995 ACTG1 71 HP:0002269 Abnormality of neuronal migration ORPHANET:2995 ACTG1 71 HP:0005105 Abnormal nasal morphology ORPHANET:2995 ACTG1 71 HP:0002652 Skeletal dysplasia ORPHANET:2995 ACTG1 71 HP:0000280 Coarse facial features ORPHANET:2995 ACTG1 71 HP:0001100 Heterochromia iridis ORPHANET:2995 ACTG1 71 HP:0001250 Seizures ORPHANET:2995 ACTG1 71 HP:0002637 Cerebral ischemia ORPHANET:2995 ACTG1 71 HP:0002162 Low posterior hairline ORPHANET:2995 ACTG1 71 HP:0010935 Abnormality of the upper urinary tract ORPHANET:2995 ACTG1 71 HP:0000233 Thin vermilion border ORPHANET:2995 ACTG1 71 HP:0000567 Chorioretinal coloboma ORPHANET:2995 ACTG1 71 HP:0000637 Long palpebral fissure ORPHANET:2995 ACTG1 71 HP:0000293 Full cheeks ORPHANET:2995 ACTG1 71 HP:0000286 Epicanthus ORPHANET:2995 ACTG1 71 HP:0000482 Microcornea ORPHANET:2995 ACTG1 71 HP:0000508 Ptosis ORPHANET:2995 ACTG1 71 HP:0005487 Prominent metopic ridge ORPHANET:2995 ACTG1 71 HP:0000316 Hypertelorism ORPHANET:2995 ACTG1 71 HP:0001376 Limitation of joint mobility ORPHANET:2995 ACTG1 71 HP:0000343 Long philtrum ORPHANET:2995 ACTG1 71 HP:0000506 Telecanthus ORPHANET:2995 ACTG1 71 HP:0000612 Iris coloboma ORPHANET:2995 ACTG1 71 HP:0000465 Webbed neck ORPHANET:2995 ACTG1 71 HP:0001177 Preaxial hand polydactyly ORPHANET:2995 ACTG1 71 HP:0000154 Wide mouth ORPHANET:2995 ACTG1 71 HP:0100540 Palpebral edema ORPHANET:2995 ACTG1 71 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:2995 ACTG1 71 HP:0002553 Highly arched eyebrow ORPHANET:2995 ACTB 60 HP:0100543 Cognitive impairment ORPHANET:2995 ACTB 60 HP:0000470 Short neck ORPHANET:2995 ACTB 60 HP:0000494 Downslanted palpebral fissures ORPHANET:2995 ACTB 60 HP:0002650 Scoliosis ORPHANET:2995 ACTB 60 HP:0000243 Trigonocephaly ORPHANET:2995 ACTB 60 HP:0000307 Pointed chin ORPHANET:2995 ACTB 60 HP:0000252 Microcephaly ORPHANET:2995 ACTB 60 HP:0000347 Micrognathia ORPHANET:2995 ACTB 60 HP:0000588 Optic nerve coloboma ORPHANET:2995 ACTB 60 HP:0002167 Neurological speech impairment ORPHANET:2995 ACTB 60 HP:0002120 Cerebral cortical atrophy ORPHANET:2995 ACTB 60 HP:0002269 Abnormality of neuronal migration ORPHANET:2995 ACTB 60 HP:0005105 Abnormal nasal morphology ORPHANET:2995 ACTB 60 HP:0002652 Skeletal dysplasia ORPHANET:2995 ACTB 60 HP:0000280 Coarse facial features ORPHANET:2995 ACTB 60 HP:0001100 Heterochromia iridis ORPHANET:2995 ACTB 60 HP:0001250 Seizures ORPHANET:2995 ACTB 60 HP:0002637 Cerebral ischemia ORPHANET:2995 ACTB 60 HP:0002162 Low posterior hairline ORPHANET:2995 ACTB 60 HP:0010935 Abnormality of the upper urinary tract ORPHANET:2995 ACTB 60 HP:0000233 Thin vermilion border ORPHANET:2995 ACTB 60 HP:0000567 Chorioretinal coloboma ORPHANET:2995 ACTB 60 HP:0000637 Long palpebral fissure ORPHANET:2995 ACTB 60 HP:0000293 Full cheeks ORPHANET:2995 ACTB 60 HP:0000286 Epicanthus ORPHANET:2995 ACTB 60 HP:0000482 Microcornea ORPHANET:2995 ACTB 60 HP:0000508 Ptosis ORPHANET:2995 ACTB 60 HP:0005487 Prominent metopic ridge ORPHANET:2995 ACTB 60 HP:0000316 Hypertelorism ORPHANET:2995 ACTB 60 HP:0001376 Limitation of joint mobility ORPHANET:2995 ACTB 60 HP:0000343 Long philtrum ORPHANET:2995 ACTB 60 HP:0000506 Telecanthus ORPHANET:2995 ACTB 60 HP:0000612 Iris coloboma ORPHANET:2995 ACTB 60 HP:0000465 Webbed neck ORPHANET:2995 ACTB 60 HP:0001177 Preaxial hand polydactyly ORPHANET:2995 ACTB 60 HP:0000154 Wide mouth ORPHANET:2995 ACTB 60 HP:0100540 Palpebral edema ORPHANET:2995 ACTB 60 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:2995 ACTB 60 HP:0002553 Highly arched eyebrow OMIM:187040 TAL1 6886 HP:0000006 Autosomal dominant inheritance OMIM:187040 TAL1 6886 HP:0005517 T-cell lymphoma/leukemia OMIM:187040 TAL1 6886 HP:0001909 Leukemia OMIM:254800 CSTB 1476 HP:0000007 Autosomal recessive inheritance OMIM:254800 CSTB 1476 HP:0001336 Myoclonus OMIM:254800 CSTB 1476 HP:0001268 Mental deterioration OMIM:254800 CSTB 1476 HP:0001260 Dysarthria OMIM:254800 CSTB 1476 HP:0002121 Absence seizures OMIM:254800 CSTB 1476 HP:0002069 Generalized tonic-clonic seizures OMIM:254800 CSTB 1476 HP:0001251 Ataxia OMIM:222730 SLC1A1 6505 HP:0003162 Fasting hypoglycemia OMIM:222730 SLC1A1 6505 HP:0003355 Aminoaciduria OMIM:222730 SLC1A1 6505 HP:0001249 Intellectual disability OMIM:222730 SLC1A1 6505 HP:0000007 Autosomal recessive inheritance OMIM:200990 KIF7 374654 HP:0000365 Hearing impairment OMIM:200990 KIF7 374654 HP:0004299 Hernia of the abdominal wall OMIM:200990 KIF7 374654 HP:0000340 Sloping forehead OMIM:200990 KIF7 374654 HP:0001290 Generalized hypotonia OMIM:200990 KIF7 374654 HP:0002007 Frontal bossing OMIM:200990 KIF7 374654 HP:0000648 Optic atrophy OMIM:200990 KIF7 374654 HP:0001841 Preaxial foot polydactyly OMIM:200990 KIF7 374654 HP:0001537 Umbilical hernia OMIM:200990 KIF7 374654 HP:0001510 Growth delay OMIM:200990 KIF7 374654 HP:0000233 Thin vermilion border OMIM:200990 KIF7 374654 HP:0000343 Long philtrum OMIM:200990 KIF7 374654 HP:0000486 Strabismus OMIM:200990 KIF7 374654 HP:0000007 Autosomal recessive inheritance OMIM:200990 KIF7 374654 HP:0000316 Hypertelorism OMIM:200990 KIF7 374654 HP:0000358 Posteriorly rotated ears OMIM:200990 KIF7 374654 HP:0100543 Cognitive impairment OMIM:200990 KIF7 374654 HP:0000175 Cleft palate OMIM:200990 KIF7 374654 HP:0001156 Brachydactyly syndrome OMIM:200990 KIF7 374654 HP:0001671 Abnormality of the cardiac septa OMIM:200990 KIF7 374654 HP:0000054 Micropenis OMIM:200990 KIF7 374654 HP:0000207 Triangular mouth OMIM:200990 KIF7 374654 HP:0000098 Tall stature OMIM:200990 KIF7 374654 HP:0000685 Hypoplasia of teeth OMIM:200990 KIF7 374654 HP:0000256 Macrocephaly OMIM:200990 KIF7 374654 HP:0009611 Bifid distal phalanx of the thumb OMIM:200990 KIF7 374654 HP:0001199 Triphalangeal thumb OMIM:200990 KIF7 374654 HP:0001182 Tapered finger OMIM:200990 KIF7 374654 HP:0000269 Prominent occiput OMIM:200990 KIF7 374654 HP:0007894 Hypopigmentation of the fundus OMIM:200990 KIF7 374654 HP:0000143 Rectovaginal fistula OMIM:200990 KIF7 374654 HP:0000639 Nystagmus OMIM:200990 KIF7 374654 HP:0009942 Duplication of thumb phalanx OMIM:200990 KIF7 374654 HP:0000431 Wide nasal bridge OMIM:200990 KIF7 374654 HP:0006101 Finger syndactyly OMIM:200990 KIF7 374654 HP:0008897 Postnatal growth retardation OMIM:200990 KIF7 374654 HP:0000218 High palate OMIM:200990 KIF7 374654 HP:0002564 Malformation of the heart and great vessels OMIM:200990 KIF7 374654 HP:0003812 Phenotypic variability OMIM:200990 KIF7 374654 HP:0000194 Open mouth OMIM:200990 KIF7 374654 HP:0000319 Smooth philtrum OMIM:200990 KIF7 374654 HP:0004209 Clinodactyly of the 5th finger OMIM:200990 KIF7 374654 HP:0001508 Failure to thrive OMIM:200990 KIF7 374654 HP:0000260 Wide anterior fontanel OMIM:200990 KIF7 374654 HP:0000407 Sensorineural hearing impairment OMIM:200990 KIF7 374654 HP:0002023 Anal atresia OMIM:200990 KIF7 374654 HP:0001425 Heterogeneous OMIM:200990 KIF7 374654 HP:0001249 Intellectual disability OMIM:200990 KIF7 374654 HP:0000384 Preauricular skin tag OMIM:200990 KIF7 374654 HP:0001250 Seizures OMIM:200990 KIF7 374654 HP:0000889 Abnormality of the clavicle OMIM:200990 KIF7 374654 HP:0000322 Short philtrum OMIM:200990 KIF7 374654 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:200990 KIF7 374654 HP:0100627 Displacement of the external urethral meatus OMIM:200990 KIF7 374654 HP:0003196 Short nose OMIM:200990 KIF7 374654 HP:0000286 Epicanthus OMIM:200990 KIF7 374654 HP:0000776 Congenital diaphragmatic hernia OMIM:200990 KIF7 374654 HP:0011220 Prominent forehead OMIM:200990 KIF7 374654 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:200990 KIF7 374654 HP:0000028 Cryptorchidism OMIM:200990 KIF7 374654 HP:0000589 Coloboma OMIM:200990 KIF7 374654 HP:0010066 Duplication of phalanx of hallux OMIM:200990 KIF7 374654 HP:0001770 Toe syndactyly OMIM:200990 KIF7 374654 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:200990 KIF7 374654 HP:0001305 Dandy-Walker malformation OMIM:200990 KIF7 374654 HP:0001177 Preaxial hand polydactyly OMIM:200990 KIF7 374654 HP:0010864 Intellectual disability, severe OMIM:200990 KIF7 374654 HP:0000377 Abnormality of the pinna OMIM:200990 KIF7 374654 HP:0001830 Postaxial foot polydactyly OMIM:200990 KIF7 374654 HP:0000006 Autosomal dominant inheritance OMIM:200990 KIF7 374654 HP:0005148 Pulmonary valve defects OMIM:200990 KIF7 374654 HP:0001274 Agenesis of corpus callosum OMIM:200990 KIF7 374654 HP:0000337 Broad forehead OMIM:200990 KIF7 374654 HP:0000023 Inguinal hernia OMIM:200990 KIF7 374654 HP:0001162 Postaxial hand polydactyly OMIM:200990 KIF7 374654 HP:0000047 Hypospadias OMIM:200990 KIF7 374654 HP:0000308 Microretrognathia OMIM:200990 KIF7 374654 HP:0010576 Intracranial cystic lesion OMIM:200990 KIF7 374654 HP:0000204 Cleft upper lip OMIM:200990 KIF7 374654 HP:0000494 Downslanted palpebral fissures OMIM:147891 TBX4 9496 HP:0003370 Flat capital femoral epiphysis OMIM:147891 TBX4 9496 HP:0006443 Patellar aplasia OMIM:147891 TBX4 9496 HP:0008784 Wide capital femoral epiphyses OMIM:147891 TBX4 9496 HP:0001852 Sandal gap OMIM:147891 TBX4 9496 HP:0003272 Abnormality of the hip bone OMIM:147891 TBX4 9496 HP:0000347 Micrognathia OMIM:147891 TBX4 9496 HP:0000218 High palate OMIM:147891 TBX4 9496 HP:0001763 Pes planus OMIM:147891 TBX4 9496 HP:0002999 Patellar dislocation OMIM:147891 TBX4 9496 HP:0000175 Cleft palate OMIM:147891 TBX4 9496 HP:0008801 Hypoplasia of the lesser trochanter OMIM:147891 TBX4 9496 HP:0000006 Autosomal dominant inheritance OMIM:147891 TBX4 9496 HP:0003065 Patellar hypoplasia OMIM:306900 F9 2158 HP:0001892 Abnormal bleeding OMIM:306900 F9 2158 HP:0003645 Prolonged partial thromboplastin time OMIM:306900 F9 2158 HP:0002239 Gastrointestinal hemorrhage OMIM:306900 F9 2158 HP:0001934 Persistent bleeding after trauma OMIM:306900 F9 2158 HP:0001419 X-linked recessive inheritance OMIM:306900 F9 2158 HP:0001379 Degenerative joint disease OMIM:306900 F9 2158 HP:0011858 Reduced factor IX activity OMIM:306900 F9 2158 HP:0005261 Joint hemorrhage OMIM:306900 F9 2158 HP:0005542 Prolonged whole-blood clotting time OMIM:616220 CRB2 286204 HP:0000100 Nephrotic syndrome OMIM:616220 CRB2 286204 HP:0000097 Focal segmental glomerulosclerosis OMIM:271900 ASPA 443 HP:0100543 Cognitive impairment OMIM:271900 ASPA 443 HP:0000648 Optic atrophy OMIM:271900 ASPA 443 HP:0000618 Blindness OMIM:271900 ASPA 443 HP:0000365 Hearing impairment OMIM:271900 ASPA 443 HP:0001252 Muscular hypotonia OMIM:271900 ASPA 443 HP:0000639 Nystagmus OMIM:271900 ASPA 443 HP:0002197 Generalized seizures OMIM:271900 ASPA 443 HP:0007703 Abnormal retinal pigmentation OMIM:271900 ASPA 443 HP:0000505 Visual impairment OMIM:271900 ASPA 443 HP:0008872 Feeding difficulties in infancy OMIM:271900 ASPA 443 HP:0001250 Seizures OMIM:271900 ASPA 443 HP:0000649 Abnormality of vision evoked potentials OMIM:271900 ASPA 443 HP:0001276 Hypertonia OMIM:271900 ASPA 443 HP:0002376 Developmental regression OMIM:271900 ASPA 443 HP:0004372 Reduced consciousness/confusion OMIM:271900 ASPA 443 HP:0000007 Autosomal recessive inheritance OMIM:271900 ASPA 443 HP:0002353 EEG abnormality OMIM:271900 ASPA 443 HP:0001371 Flexion contracture OMIM:271900 ASPA 443 HP:0002977 Aplasia/Hypoplasia involving the central nervous system OMIM:271900 ASPA 443 HP:0002179 Opisthotonus OMIM:271900 ASPA 443 HP:0007305 CNS demyelination OMIM:271900 ASPA 443 HP:0000256 Macrocephaly OMIM:271900 ASPA 443 HP:0001476 Delayed closure of the anterior fontanelle OMIM:271900 ASPA 443 HP:0012444 Brain atrophy OMIM:614562 ARID1B 57492 HP:0000006 Autosomal dominant inheritance OMIM:614562 ARID1B 57492 HP:0001252 Muscular hypotonia OMIM:614562 ARID1B 57492 HP:0004322 Short stature OMIM:614562 ARID1B 57492 HP:0000219 Thin upper lip vermilion OMIM:614562 ARID1B 57492 HP:0001249 Intellectual disability OMIM:614562 ARID1B 57492 HP:0000494 Downslanted palpebral fissures OMIM:614562 ARID1B 57492 HP:0000368 Low-set, posteriorly rotated ears OMIM:614562 ARID1B 57492 HP:0000414 Bulbous nose OMIM:124900 DIAPH1 1729 HP:0011463 Childhood onset OMIM:124900 DIAPH1 1729 HP:0000006 Autosomal dominant inheritance OMIM:124900 DIAPH1 1729 HP:0008542 Low-frequency hearing loss OMIM:124900 DIAPH1 1729 HP:0000407 Sensorineural hearing impairment OMIM:124900 DIAPH1 1729 HP:0001730 Progressive hearing impairment OMIM:614455 INF2 64423 HP:0000097 Focal segmental glomerulosclerosis OMIM:614455 INF2 64423 HP:0000093 Proteinuria OMIM:614455 INF2 64423 HP:0000006 Autosomal dominant inheritance OMIM:614455 INF2 64423 HP:0001765 Hammertoe OMIM:614455 INF2 64423 HP:0001284 Areflexia OMIM:614455 INF2 64423 HP:0001761 Pes cavus OMIM:614455 INF2 64423 HP:0008944 Distal lower limb amyotrophy OMIM:614455 INF2 64423 HP:0002460 Distal muscle weakness OMIM:614455 INF2 64423 HP:0007149 Distal upper limb amyotrophy OMIM:614455 INF2 64423 HP:0003676 Progressive disorder OMIM:614455 INF2 64423 HP:0003376 Steppage gait OMIM:614455 INF2 64423 HP:0001171 Split hand OMIM:614455 INF2 64423 HP:0003774 Stage 5 chronic kidney disease OMIM:614455 INF2 64423 HP:0001265 Hyporeflexia OMIM:614455 INF2 64423 HP:0009027 Foot dorsiflexor weakness OMIM:614455 INF2 64423 HP:0003383 Onion bulb formation OMIM:614455 INF2 64423 HP:0002936 Distal sensory impairment OMIM:614455 INF2 64423 HP:0003447 Axonal loss OMIM:609741 CRYBB3 1417 HP:0100018 Nuclear cataract OMIM:609741 CRYBB3 1417 HP:0000501 Glaucoma OMIM:609741 CRYBB3 1417 HP:0000007 Autosomal recessive inheritance OMIM:278730 ERCC2 2068 HP:0001251 Ataxia OMIM:278730 ERCC2 2068 HP:0001265 Hyporeflexia OMIM:278730 ERCC2 2068 HP:0000407 Sensorineural hearing impairment OMIM:278730 ERCC2 2068 HP:0001249 Intellectual disability OMIM:278730 ERCC2 2068 HP:0000613 Photophobia OMIM:278730 ERCC2 2068 HP:0000621 Entropion OMIM:278730 ERCC2 2068 HP:0003079 Defective DNA repair after ultraviolet radiation damage OMIM:278730 ERCC2 2068 HP:0001029 Poikiloderma OMIM:278730 ERCC2 2068 HP:0000007 Autosomal recessive inheritance OMIM:278730 ERCC2 2068 HP:0001009 Telangiectasia OMIM:278730 ERCC2 2068 HP:0001266 Choreoathetosis OMIM:278730 ERCC2 2068 HP:0000656 Ectropion OMIM:278730 ERCC2 2068 HP:0001257 Spasticity OMIM:278730 ERCC2 2068 HP:0000252 Microcephaly OMIM:278730 ERCC2 2068 HP:0000491 Keratitis OMIM:278730 ERCC2 2068 HP:0004334 Dermal atrophy OMIM:278730 ERCC2 2068 HP:0000509 Conjunctivitis OMIM:278730 ERCC2 2068 HP:0000992 Cutaneous photosensitivity OMIM:278730 ERCC2 2068 HP:0001268 Mental deterioration OMIM:174000 MUC1 4582 HP:0000096 Glomerulosclerosis OMIM:174000 MUC1 4582 HP:0002615 Hypotension OMIM:174000 MUC1 4582 HP:0000822 Hypertension OMIM:174000 MUC1 4582 HP:0001903 Anemia OMIM:174000 MUC1 4582 HP:0002048 Renal cortical atrophy OMIM:174000 MUC1 4582 HP:0001997 Gout OMIM:174000 MUC1 4582 HP:0003581 Adult onset OMIM:174000 MUC1 4582 HP:0000006 Autosomal dominant inheritance OMIM:174000 MUC1 4582 HP:0000108 Renal corticomedullary cysts OMIM:174000 MUC1 4582 HP:0003259 Elevated serum creatinine OMIM:174000 MUC1 4582 HP:0000127 Renal salt wasting OMIM:174000 MUC1 4582 HP:0003774 Stage 5 chronic kidney disease OMIM:174000 MUC1 4582 HP:0000089 Renal hypoplasia OMIM:174000 MUC1 4582 HP:0000092 Tubular atrophy OMIM:174000 MUC1 4582 HP:0005583 Tubular basement membrane disintegration OMIM:174000 MUC1 4582 HP:0005576 Tubulointerstitial fibrosis OMIM:174000 MUC1 4582 HP:0001970 Tubulointerstitial nephritis OMIM:174000 MUC1 4582 HP:0012213 Decreased glomerular filtration rate OMIM:174000 MUC1 4582 HP:0004732 Impaired renal uric acid clearance OMIM:174000 MUC1 4582 HP:0002120 Cerebral cortical atrophy OMIM:615074 GATAD2B 57459 HP:0002463 Language impairment OMIM:615074 GATAD2B 57459 HP:0001319 Neonatal hypotonia OMIM:615074 GATAD2B 57459 HP:0000486 Strabismus OMIM:615074 GATAD2B 57459 HP:0000322 Short philtrum OMIM:615074 GATAD2B 57459 HP:0000455 Broad nasal tip OMIM:615074 GATAD2B 57459 HP:0000748 Inappropriate laughter OMIM:615074 GATAD2B 57459 HP:0008070 Sparse hair OMIM:615074 GATAD2B 57459 HP:0001263 Global developmental delay OMIM:615074 GATAD2B 57459 HP:0000006 Autosomal dominant inheritance OMIM:615074 GATAD2B 57459 HP:0010864 Intellectual disability, severe OMIM:613266 SOX10 6663 HP:0002227 White eyelashes OMIM:613266 SOX10 6663 HP:0002211 White forelock OMIM:613266 SOX10 6663 HP:0000458 Anosmia OMIM:613266 SOX10 6663 HP:0002216 Premature graying of hair OMIM:613266 SOX10 6663 HP:0001053 Hypopigmented skin patches OMIM:613266 SOX10 6663 HP:0002251 Aganglionic megacolon OMIM:613266 SOX10 6663 HP:0001100 Heterochromia iridis OMIM:613266 SOX10 6663 HP:0000006 Autosomal dominant inheritance OMIM:613266 SOX10 6663 HP:0000028 Cryptorchidism OMIM:613266 SOX10 6663 HP:0000135 Hypogonadism OMIM:613266 SOX10 6663 HP:0002226 White eyebrow OMIM:613266 SOX10 6663 HP:0001425 Heterogeneous OMIM:613266 SOX10 6663 HP:0000635 Blue irides OMIM:613266 SOX10 6663 HP:0000407 Sensorineural hearing impairment OMIM:616373 RTEL1 51750 HP:0002206 Pulmonary fibrosis OMIM:603034 COLQ 8292 HP:0001252 Muscular hypotonia OMIM:603034 COLQ 8292 HP:0003307 Hyperlordosis OMIM:603034 COLQ 8292 HP:0001260 Dysarthria OMIM:603034 COLQ 8292 HP:0002093 Respiratory insufficiency OMIM:603034 COLQ 8292 HP:0000508 Ptosis OMIM:603034 COLQ 8292 HP:0003690 Limb muscle weakness OMIM:603034 COLQ 8292 HP:0003443 Decreased size of nerve terminals OMIM:603034 COLQ 8292 HP:0001612 Weak cry OMIM:603034 COLQ 8292 HP:0000597 Ophthalmoparesis OMIM:603034 COLQ 8292 HP:0008872 Feeding difficulties in infancy OMIM:603034 COLQ 8292 HP:0002015 Dysphagia OMIM:603034 COLQ 8292 HP:0003199 Decreased muscle mass OMIM:603034 COLQ 8292 HP:0003473 Fatigable weakness OMIM:603034 COLQ 8292 HP:0003324 Generalized muscle weakness OMIM:603034 COLQ 8292 HP:0003593 Infantile onset OMIM:603034 COLQ 8292 HP:0000007 Autosomal recessive inheritance OMIM:603034 COLQ 8292 HP:0003436 Prolonged miniature endplate currents OMIM:603034 COLQ 8292 HP:0003554 Type 2 muscle fiber atrophy OMIM:603034 COLQ 8292 HP:0003388 Easy fatigability OMIM:603034 COLQ 8292 HP:0002650 Scoliosis OMIM:603034 COLQ 8292 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:603034 COLQ 8292 HP:0003403 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation OMIM:603034 COLQ 8292 HP:0002715 Abnormality of the immune system OMIM:193670 CXCR4 7852 HP:0000006 Autosomal dominant inheritance OMIM:193670 CXCR4 7852 HP:0200043 Verrucae OMIM:193670 CXCR4 7852 HP:0000055 Abnormality of female external genitalia OMIM:193670 CXCR4 7852 HP:0001875 Neutropenia OMIM:193670 CXCR4 7852 HP:0002788 Recurrent upper respiratory tract infections OMIM:193670 CXCR4 7852 HP:0004315 IgG deficiency OMIM:193670 CXCR4 7852 HP:0000008 Abnormality of female internal genitalia OMIM:193670 CXCR4 7852 HP:0003593 Infantile onset OMIM:193670 CXCR4 7852 HP:0005561 Abnormality of bone marrow cell morphology OMIM:603813 LDLRAP1 26119 HP:0010874 Tendon xanthomatosis OMIM:603813 LDLRAP1 26119 HP:0002621 Atherosclerosis OMIM:603813 LDLRAP1 26119 HP:0003124 Hypercholesterolemia OMIM:603813 LDLRAP1 26119 HP:0003362 Increased circulating very-low-density lipoprotein cholesterol OMIM:603813 LDLRAP1 26119 HP:0000007 Autosomal recessive inheritance OMIM:600513 CHRNA4 1137 HP:0007359 Focal seizures OMIM:600513 CHRNA4 1137 HP:0003621 Juvenile onset OMIM:600513 CHRNA4 1137 HP:0001249 Intellectual disability OMIM:600513 CHRNA4 1137 HP:0000006 Autosomal dominant inheritance OMIM:600513 CHRNA4 1137 HP:0003829 Incomplete penetrance OMIM:600513 CHRNA4 1137 HP:0001250 Seizures OMIM:600513 CHRNA4 1137 HP:0000708 Behavioral abnormality OMIM:615722 NR2F1 7025 HP:0001182 Tapered finger OMIM:615722 NR2F1 7025 HP:0001249 Intellectual disability OMIM:615722 NR2F1 7025 HP:0000006 Autosomal dominant inheritance OMIM:615722 NR2F1 7025 HP:0001123 Visual field defect OMIM:615722 NR2F1 7025 HP:0001263 Global developmental delay OMIM:615722 NR2F1 7025 HP:0000505 Visual impairment OMIM:615722 NR2F1 7025 HP:0000486 Strabismus OMIM:615722 NR2F1 7025 HP:0000543 Optic disc pallor OMIM:615722 NR2F1 7025 HP:0000639 Nystagmus OMIM:600145 VANGL1 81839 HP:0001287 Meningitis OMIM:600145 VANGL1 81839 HP:0002019 Constipation OMIM:600145 VANGL1 81839 HP:0003312 Abnormal form of the vertebral bodies OMIM:600145 VANGL1 81839 HP:0008678 Renal hypoplasia/aplasia OMIM:600145 VANGL1 81839 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:600145 VANGL1 81839 HP:0001883 Talipes OMIM:600145 VANGL1 81839 HP:0003418 Back pain OMIM:600145 VANGL1 81839 HP:0000822 Hypertension OMIM:600145 VANGL1 81839 HP:0001669 Transposition of the great arteries OMIM:600145 VANGL1 81839 HP:0000062 Ambiguous genitalia OMIM:600145 VANGL1 81839 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:600145 VANGL1 81839 HP:0010497 Sirenomelia OMIM:600145 VANGL1 81839 HP:0004397 Ectopic anus OMIM:600145 VANGL1 81839 HP:0001315 Reduced tendon reflexes OMIM:600145 VANGL1 81839 HP:0002575 Tracheoesophageal fistula OMIM:600145 VANGL1 81839 HP:0000076 Vesicoureteral reflux OMIM:600145 VANGL1 81839 HP:0100589 Urogenital fistula OMIM:600145 VANGL1 81839 HP:0002650 Scoliosis OMIM:600145 VANGL1 81839 HP:0001195 Single umbilical artery OMIM:600145 VANGL1 81839 HP:0000006 Autosomal dominant inheritance OMIM:600145 VANGL1 81839 HP:0100542 Abnormal localization of kidney OMIM:600145 VANGL1 81839 HP:0000011 Neurogenic bladder OMIM:600145 VANGL1 81839 HP:0000083 Renal insufficiency OMIM:600145 VANGL1 81839 HP:0002315 Headache OMIM:600145 VANGL1 81839 HP:0003422 Vertebral segmentation defect OMIM:600145 VANGL1 81839 HP:0000028 Cryptorchidism OMIM:600145 VANGL1 81839 HP:0003202 Skeletal muscle atrophy OMIM:600145 VANGL1 81839 HP:0000772 Abnormality of the ribs OMIM:600145 VANGL1 81839 HP:0002308 Arnold-Chiari malformation OMIM:600145 VANGL1 81839 HP:0000008 Abnormality of female internal genitalia OMIM:600145 VANGL1 81839 HP:0008517 Aplasia/Hypoplasia of the sacrum OMIM:600145 VANGL1 81839 HP:0001376 Limitation of joint mobility OMIM:600145 VANGL1 81839 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:600145 VANGL1 81839 HP:0001360 Holoprosencephaly OMIM:600145 VANGL1 81839 HP:0007293 Anterior sacral meningocele OMIM:600145 VANGL1 81839 HP:0005224 Rectal abscess OMIM:600145 VANGL1 81839 HP:0000202 Oral cleft OMIM:600145 VANGL1 81839 HP:0002414 Spina bifida OMIM:600145 VANGL1 81839 HP:0002607 Bowel incontinence OMIM:600145 VANGL1 81839 HP:0012033 Sacral lipoma OMIM:600145 VANGL1 81839 HP:0009800 Maternal diabetes OMIM:600145 VANGL1 81839 HP:0001562 Oligohydramnios OMIM:616154 FAR1 84188 HP:0001263 Global developmental delay OMIM:616154 FAR1 84188 HP:0001250 Seizures OMIM:616154 FAR1 84188 HP:0000280 Coarse facial features OMIM:616154 FAR1 84188 HP:0000400 Macrotia OMIM:616154 FAR1 84188 HP:0001249 Intellectual disability OMIM:616154 FAR1 84188 HP:0001252 Muscular hypotonia OMIM:616154 FAR1 84188 HP:0002553 Highly arched eyebrow OMIM:616154 FAR1 84188 HP:0000343 Long philtrum OMIM:616154 FAR1 84188 HP:0000252 Microcephaly OMIM:616154 FAR1 84188 HP:0001510 Growth delay OMIM:616154 FAR1 84188 HP:0001272 Cerebellar atrophy OMIM:616154 FAR1 84188 HP:0000518 Cataract OMIM:616154 FAR1 84188 HP:0001257 Spasticity OMIM:616154 FAR1 84188 HP:0000219 Thin upper lip vermilion OMIM:301050 COL4A5 1287 HP:0003774 Stage 5 chronic kidney disease OMIM:301050 COL4A5 1287 HP:0000123 Nephritis OMIM:301050 COL4A5 1287 HP:0003676 Progressive disorder OMIM:301050 COL4A5 1287 HP:0001423 X-linked dominant inheritance OMIM:301050 COL4A5 1287 HP:0030034 Diffuse glomerular basement membrane lamellation OMIM:301050 COL4A5 1287 HP:0000519 Congenital cataract OMIM:301050 COL4A5 1287 HP:0000822 Hypertension OMIM:301050 COL4A5 1287 HP:0200020 Corneal erosion OMIM:301050 COL4A5 1287 HP:0001425 Heterogeneous OMIM:301050 COL4A5 1287 HP:0000100 Nephrotic syndrome OMIM:301050 COL4A5 1287 HP:0011501 Anterior lenticonus OMIM:301050 COL4A5 1287 HP:0000829 Hypoparathyroidism OMIM:301050 COL4A5 1287 HP:0008064 Ichthyosis OMIM:301050 COL4A5 1287 HP:0000407 Sensorineural hearing impairment OMIM:301050 COL4A5 1287 HP:0006756 Diffuse leiomyomatosis OMIM:301050 COL4A5 1287 HP:0001873 Thrombocytopenia OMIM:301050 COL4A5 1287 HP:0002907 Microscopic hematuria OMIM:301050 COL4A5 1287 HP:0000093 Proteinuria OMIM:301050 COL4A5 1287 HP:0000545 Myopia OMIM:614507 DDOST 1650 HP:0001252 Muscular hypotonia OMIM:614507 DDOST 1650 HP:0001263 Global developmental delay OMIM:614507 DDOST 1650 HP:0000486 Strabismus OMIM:614507 DDOST 1650 HP:0003593 Infantile onset OMIM:614507 DDOST 1650 HP:0001410 Decreased liver function OMIM:614507 DDOST 1650 HP:0002020 Gastroesophageal reflux OMIM:614507 DDOST 1650 HP:0003642 Type I transferrin isoform profile OMIM:614507 DDOST 1650 HP:0002019 Constipation OMIM:614507 DDOST 1650 HP:0001508 Failure to thrive OMIM:614507 DDOST 1650 HP:0000007 Autosomal recessive inheritance OMIM:242600 SLC6A20 54716 HP:0001249 Intellectual disability OMIM:242600 SLC6A20 54716 HP:0003137 Prolinuria OMIM:242600 SLC6A20 54716 HP:0003080 Hydroxyprolinuria OMIM:242600 SLC6A20 54716 HP:0003108 Hyperglycinuria OMIM:242600 SLC6A20 54716 HP:0000478 Abnormality of the eye OMIM:242600 SLC6A20 54716 HP:0000007 Autosomal recessive inheritance OMIM:242600 SLC36A2 153201 HP:0001249 Intellectual disability OMIM:242600 SLC36A2 153201 HP:0003137 Prolinuria OMIM:242600 SLC36A2 153201 HP:0003080 Hydroxyprolinuria OMIM:242600 SLC36A2 153201 HP:0003108 Hyperglycinuria OMIM:242600 SLC36A2 153201 HP:0000478 Abnormality of the eye OMIM:242600 SLC36A2 153201 HP:0000007 Autosomal recessive inheritance OMIM:242600 SLC6A19 340024 HP:0001249 Intellectual disability OMIM:242600 SLC6A19 340024 HP:0003137 Prolinuria OMIM:242600 SLC6A19 340024 HP:0003080 Hydroxyprolinuria OMIM:242600 SLC6A19 340024 HP:0003108 Hyperglycinuria OMIM:242600 SLC6A19 340024 HP:0000478 Abnormality of the eye OMIM:242600 SLC6A19 340024 HP:0000007 Autosomal recessive inheritance OMIM:246650 LMF1 64788 HP:0001939 Abnormality of metabolism/homeostasis OMIM:246650 LMF1 64788 HP:0000007 Autosomal recessive inheritance OMIM:614564 ATR 545 HP:0001807 Ridged nail OMIM:614564 ATR 545 HP:0000444 Convex nasal ridge OMIM:614564 ATR 545 HP:0006297 Hypoplasia of dental enamel OMIM:614564 ATR 545 HP:0001009 Telangiectasia OMIM:614564 ATR 545 HP:0003002 Breast carcinoma OMIM:614564 ATR 545 HP:0000006 Autosomal dominant inheritance OMIM:614564 ATR 545 HP:0000670 Carious teeth OMIM:614564 ATR 545 HP:0001596 Alopecia OMIM:612631 AK1 203 HP:0001878 Hemolytic anemia OMIM:612631 AK1 203 HP:0000007 Autosomal recessive inheritance OMIM:616145 TGDS 23483 HP:0000476 Cystic hygroma OMIM:616145 TGDS 23483 HP:0001537 Umbilical hernia OMIM:616145 TGDS 23483 HP:0001250 Seizures OMIM:616145 TGDS 23483 HP:0001511 Intrauterine growth retardation OMIM:616145 TGDS 23483 HP:0001762 Talipes equinovarus OMIM:616145 TGDS 23483 HP:0001263 Global developmental delay OMIM:616145 TGDS 23483 HP:0000768 Pectus carinatum OMIM:616145 TGDS 23483 HP:0000369 Low-set ears OMIM:616145 TGDS 23483 HP:0004209 Clinodactyly of the 5th finger OMIM:616145 TGDS 23483 HP:0000218 High palate OMIM:616145 TGDS 23483 HP:0000767 Pectus excavatum OMIM:616145 TGDS 23483 HP:0000028 Cryptorchidism OMIM:616145 TGDS 23483 HP:0012385 Camptodactyly OMIM:616145 TGDS 23483 HP:0002623 Overriding aorta OMIM:616145 TGDS 23483 HP:0000023 Inguinal hernia OMIM:616145 TGDS 23483 HP:0000347 Micrognathia OMIM:616145 TGDS 23483 HP:0009464 Ulnar deviation of the 2nd finger OMIM:616145 TGDS 23483 HP:0001651 Dextrocardia OMIM:616145 TGDS 23483 HP:0000470 Short neck OMIM:616145 TGDS 23483 HP:0000175 Cleft palate OMIM:616145 TGDS 23483 HP:0001373 Joint dislocation OMIM:616145 TGDS 23483 HP:0000377 Abnormality of the pinna OMIM:616145 TGDS 23483 HP:0000204 Cleft upper lip OMIM:616145 TGDS 23483 HP:0000954 Single transverse palmar crease OMIM:616145 TGDS 23483 HP:0001388 Joint laxity OMIM:616145 TGDS 23483 HP:0008897 Postnatal growth retardation OMIM:616145 TGDS 23483 HP:0000162 Glossoptosis OMIM:616145 TGDS 23483 HP:0001629 Ventricular septal defect OMIM:616145 TGDS 23483 HP:0001680 Coarctation of aorta OMIM:606744 RBBP8 5932 HP:0000047 Hypospadias OMIM:606744 RBBP8 5932 HP:0000171 Microglossia OMIM:606744 RBBP8 5932 HP:0000691 Microdontia OMIM:606744 RBBP8 5932 HP:0000007 Autosomal recessive inheritance OMIM:606744 RBBP8 5932 HP:0000086 Ectopic kidney OMIM:606744 RBBP8 5932 HP:0000347 Micrognathia OMIM:606744 RBBP8 5932 HP:0001518 Small for gestational age OMIM:606744 RBBP8 5932 HP:0000448 Prominent nose OMIM:606744 RBBP8 5932 HP:0001620 High pitched voice OMIM:606744 RBBP8 5932 HP:0000341 Narrow forehead OMIM:606744 RBBP8 5932 HP:0001510 Growth delay OMIM:606744 RBBP8 5932 HP:0001321 Cerebellar hypoplasia OMIM:606744 RBBP8 5932 HP:0011342 Mild global developmental delay OMIM:606744 RBBP8 5932 HP:0000252 Microcephaly OMIM:606744 RBBP8 5932 HP:0004209 Clinodactyly of the 5th finger OMIM:606744 RBBP8 5932 HP:0007429 Few cafe-au-lait spots OMIM:606744 RBBP8 5932 HP:0030148 Heart murmur OMIM:606744 RBBP8 5932 HP:0000568 Microphthalmos ORPHANET:2591 PDGFRB 5159 HP:0000944 Abnormality of the metaphyses ORPHANET:2591 PDGFRB 5159 HP:0100526 Neoplasm of the lung ORPHANET:2591 PDGFRB 5159 HP:0000077 Abnormality of the kidney ORPHANET:2591 PDGFRB 5159 HP:0002894 Neoplasm of the pancreas ORPHANET:2591 PDGFRB 5159 HP:0012062 Bone cyst ORPHANET:2591 PDGFRB 5159 HP:0000929 Abnormality of the skull ORPHANET:2591 PDGFRB 5159 HP:0001376 Limitation of joint mobility ORPHANET:2591 PDGFRB 5159 HP:0000765 Abnormality of the thorax ORPHANET:2591 PDGFRB 5159 HP:0005107 Abnormality of the sacrum ORPHANET:2591 PDGFRB 5159 HP:0004374 Hemiplegia/hemiparesis ORPHANET:2591 PDGFRB 5159 HP:0000934 Chondrocalcinosis ORPHANET:2591 PDGFRB 5159 HP:0010622 Neoplasm of the skeletal system ORPHANET:2591 PDGFRB 5159 HP:0000478 Abnormality of the eye ORPHANET:2591 PDGFRB 5159 HP:0002575 Tracheoesophageal fistula ORPHANET:2591 PDGFRB 5159 HP:0200042 Skin ulcer ORPHANET:2591 PDGFRB 5159 HP:0100835 Benign neoplasm of the central nervous system ORPHANET:2591 PDGFRB 5159 HP:0007400 Irregular hyperpigmentation ORPHANET:2591 PDGFRB 5159 HP:0003072 Hypercalcemia ORPHANET:2591 PDGFRB 5159 HP:0003011 Abnormality of the musculature ORPHANET:2591 PDGFRB 5159 HP:0002797 Osteolysis ORPHANET:2591 PDGFRB 5159 HP:0100242 Sarcoma ORPHANET:2591 PDGFRB 5159 HP:0005214 Intestinal obstruction ORPHANET:2591 PDGFRB 5159 HP:0000212 Gingival overgrowth ORPHANET:2591 NOTCH3 4854 HP:0000944 Abnormality of the metaphyses ORPHANET:2591 NOTCH3 4854 HP:0100526 Neoplasm of the lung ORPHANET:2591 NOTCH3 4854 HP:0000077 Abnormality of the kidney ORPHANET:2591 NOTCH3 4854 HP:0002894 Neoplasm of the pancreas ORPHANET:2591 NOTCH3 4854 HP:0012062 Bone cyst ORPHANET:2591 NOTCH3 4854 HP:0000929 Abnormality of the skull ORPHANET:2591 NOTCH3 4854 HP:0001376 Limitation of joint mobility ORPHANET:2591 NOTCH3 4854 HP:0000765 Abnormality of the thorax ORPHANET:2591 NOTCH3 4854 HP:0005107 Abnormality of the sacrum ORPHANET:2591 NOTCH3 4854 HP:0004374 Hemiplegia/hemiparesis ORPHANET:2591 NOTCH3 4854 HP:0000934 Chondrocalcinosis ORPHANET:2591 NOTCH3 4854 HP:0010622 Neoplasm of the skeletal system ORPHANET:2591 NOTCH3 4854 HP:0000478 Abnormality of the eye ORPHANET:2591 NOTCH3 4854 HP:0002575 Tracheoesophageal fistula ORPHANET:2591 NOTCH3 4854 HP:0200042 Skin ulcer ORPHANET:2591 NOTCH3 4854 HP:0100835 Benign neoplasm of the central nervous system ORPHANET:2591 NOTCH3 4854 HP:0007400 Irregular hyperpigmentation ORPHANET:2591 NOTCH3 4854 HP:0003072 Hypercalcemia ORPHANET:2591 NOTCH3 4854 HP:0003011 Abnormality of the musculature ORPHANET:2591 NOTCH3 4854 HP:0002797 Osteolysis ORPHANET:2591 NOTCH3 4854 HP:0100242 Sarcoma ORPHANET:2591 NOTCH3 4854 HP:0005214 Intestinal obstruction ORPHANET:2591 NOTCH3 4854 HP:0000212 Gingival overgrowth OMIM:259775 FAM20C 56975 HP:0011001 Increased bone mineral density OMIM:259775 FAM20C 56975 HP:0000347 Micrognathia OMIM:259775 FAM20C 56975 HP:0000007 Autosomal recessive inheritance OMIM:259775 FAM20C 56975 HP:0004322 Short stature OMIM:259775 FAM20C 56975 HP:0000160 Narrow mouth OMIM:259775 FAM20C 56975 HP:0000272 Malar flattening OMIM:259775 FAM20C 56975 HP:0100625 Enlarged thorax OMIM:259775 FAM20C 56975 HP:0000126 Hydronephrosis OMIM:259775 FAM20C 56975 HP:0000463 Anteverted nares OMIM:259775 FAM20C 56975 HP:0006487 Bowing of the long bones OMIM:259775 FAM20C 56975 HP:0000252 Microcephaly OMIM:259775 FAM20C 56975 HP:0000410 Mixed hearing impairment OMIM:259775 FAM20C 56975 HP:0011800 Midface retrusion OMIM:259775 FAM20C 56975 HP:0000238 Hydrocephalus OMIM:259775 FAM20C 56975 HP:0002804 Arthrogryposis multiplex congenita OMIM:259775 FAM20C 56975 HP:0003811 Neonatal death OMIM:259775 FAM20C 56975 HP:0000520 Proptosis OMIM:259775 FAM20C 56975 HP:0000239 Large fontanelles OMIM:259775 FAM20C 56975 HP:0002093 Respiratory insufficiency OMIM:259775 FAM20C 56975 HP:0001847 Long hallux OMIM:259775 FAM20C 56975 HP:0000316 Hypertelorism OMIM:259775 FAM20C 56975 HP:0002514 Cerebral calcification OMIM:259775 FAM20C 56975 HP:0003196 Short nose OMIM:259775 FAM20C 56975 HP:0002983 Micromelia OMIM:259775 FAM20C 56975 HP:0000695 Natal tooth OMIM:259775 FAM20C 56975 HP:0000470 Short neck OMIM:259775 FAM20C 56975 HP:0002553 Highly arched eyebrow OMIM:259775 FAM20C 56975 HP:0000244 Brachyturricephaly OMIM:259775 FAM20C 56975 HP:0000453 Choanal atresia OMIM:259775 FAM20C 56975 HP:0005280 Depressed nasal bridge OMIM:259775 FAM20C 56975 HP:0002263 Exaggerated cupid's bow OMIM:259775 FAM20C 56975 HP:0002089 Pulmonary hypoplasia OMIM:259775 FAM20C 56975 HP:0000175 Cleft palate OMIM:259775 FAM20C 56975 HP:0000212 Gingival overgrowth OMIM:259775 FAM20C 56975 HP:0010808 Protruding tongue OMIM:259775 FAM20C 56975 HP:0000457 Depressed nasal ridge OMIM:259775 FAM20C 56975 HP:0001357 Plagiocephaly OMIM:259775 FAM20C 56975 HP:0000411 Protruding ear OMIM:259775 FAM20C 56975 HP:0000368 Low-set, posteriorly rotated ears OMIM:259775 FAM20C 56975 HP:0005257 Thoracic hypoplasia OMIM:259775 FAM20C 56975 HP:0000452 Choanal stenosis OMIM:259775 FAM20C 56975 HP:0000767 Pectus excavatum OMIM:259775 FAM20C 56975 HP:0001156 Brachydactyly syndrome OMIM:259775 FAM20C 56975 HP:0006297 Hypoplasia of dental enamel OMIM:259775 FAM20C 56975 HP:0000218 High palate OMIM:259775 FAM20C 56975 HP:0001511 Intrauterine growth retardation OMIM:259775 FAM20C 56975 HP:0003155 Elevated alkaline phosphatase OMIM:259775 FAM20C 56975 HP:0000494 Downslanted palpebral fissures OMIM:259775 FAM20C 56975 HP:0000154 Wide mouth OMIM:259775 FAM20C 56975 HP:0000691 Microdontia OMIM:259775 FAM20C 56975 HP:0000303 Mandibular prognathia OMIM:259775 FAM20C 56975 HP:0002148 Hypophosphatemia OMIM:270200 ALDH3A2 224 HP:0001025 Urticaria OMIM:270200 ALDH3A2 224 HP:0000545 Myopia OMIM:270200 ALDH3A2 224 HP:0001376 Limitation of joint mobility OMIM:270200 ALDH3A2 224 HP:0007703 Abnormal retinal pigmentation OMIM:270200 ALDH3A2 224 HP:0004322 Short stature OMIM:270200 ALDH3A2 224 HP:0006297 Hypoplasia of dental enamel OMIM:270200 ALDH3A2 224 HP:0000007 Autosomal recessive inheritance OMIM:270200 ALDH3A2 224 HP:0007305 CNS demyelination OMIM:270200 ALDH3A2 224 HP:0200020 Corneal erosion OMIM:270200 ALDH3A2 224 HP:0007727 Opacification of the corneal epithelium OMIM:270200 ALDH3A2 224 HP:0001249 Intellectual disability OMIM:270200 ALDH3A2 224 HP:0000613 Photophobia OMIM:270200 ALDH3A2 224 HP:0100543 Cognitive impairment OMIM:270200 ALDH3A2 224 HP:0001252 Muscular hypotonia OMIM:270200 ALDH3A2 224 HP:0008064 Ichthyosis OMIM:270200 ALDH3A2 224 HP:0007440 Generalized hyperpigmentation OMIM:270200 ALDH3A2 224 HP:0001257 Spasticity OMIM:270200 ALDH3A2 224 HP:0007256 Abnormal pyramidal signs OMIM:270200 ALDH3A2 224 HP:0100533 Inflammatory abnormality of the eye OMIM:270200 ALDH3A2 224 HP:0000608 Macular degeneration OMIM:270200 ALDH3A2 224 HP:0001250 Seizures OMIM:270200 ALDH3A2 224 HP:0002167 Neurological speech impairment OMIM:270200 ALDH3A2 224 HP:0000252 Microcephaly OMIM:270200 ALDH3A2 224 HP:0004374 Hemiplegia/hemiparesis OMIM:270200 ALDH3A2 224 HP:0002942 Thoracic kyphosis OMIM:270200 ALDH3A2 224 HP:0002650 Scoliosis OMIM:270200 ALDH3A2 224 HP:0002652 Skeletal dysplasia OMIM:270200 ALDH3A2 224 HP:0000488 Retinopathy OMIM:270200 ALDH3A2 224 HP:0000958 Dry skin OMIM:270200 ALDH3A2 224 HP:0000962 Hyperkeratosis OMIM:610965 ERCC4 2072 HP:0001541 Ascites OMIM:610965 ERCC4 2072 HP:0000505 Visual impairment OMIM:610965 ERCC4 2072 HP:0007495 Prematurely aged appearance OMIM:610965 ERCC4 2072 HP:0001620 High pitched voice OMIM:610965 ERCC4 2072 HP:0000252 Microcephaly OMIM:610965 ERCC4 2072 HP:0003510 Severe short stature OMIM:610965 ERCC4 2072 HP:0007519 Lack of subcutaneous fatty tissue OMIM:610965 ERCC4 2072 HP:0002910 Elevated hepatic transaminases OMIM:610965 ERCC4 2072 HP:0000365 Hearing impairment OMIM:610965 ERCC4 2072 HP:0000490 Deeply set eye OMIM:610965 ERCC4 2072 HP:0000958 Dry skin OMIM:610965 ERCC4 2072 HP:0000822 Hypertension OMIM:610965 ERCC4 2072 HP:0004326 Cachexia OMIM:610965 ERCC4 2072 HP:0001256 Intellectual disability, mild OMIM:610965 ERCC4 2072 HP:0006297 Hypoplasia of dental enamel OMIM:610965 ERCC4 2072 HP:0002370 Poor coordination OMIM:610965 ERCC4 2072 HP:0000648 Optic atrophy OMIM:613227 CA8 767 HP:0001337 Tremor OMIM:613227 CA8 767 HP:0001260 Dysarthria OMIM:613227 CA8 767 HP:0000007 Autosomal recessive inheritance OMIM:613227 CA8 767 HP:0001350 Slurred speech OMIM:613227 CA8 767 HP:0000486 Strabismus OMIM:613227 CA8 767 HP:0001251 Ataxia OMIM:613227 CA8 767 HP:0001256 Intellectual disability, mild OMIM:613227 CA8 767 HP:0003577 Congenital onset OMIM:161200 LMX1B 4010 HP:0100777 Exostoses OMIM:161200 LMX1B 4010 HP:0000518 Cataract OMIM:161200 LMX1B 4010 HP:0000099 Glomerulonephritis OMIM:161200 LMX1B 4010 HP:0000790 Hematuria OMIM:161200 LMX1B 4010 HP:0009780 Iliac horns OMIM:161200 LMX1B 4010 HP:0009783 Biceps aplasia OMIM:161200 LMX1B 4010 HP:0001798 Anonychia OMIM:161200 LMX1B 4010 HP:0002967 Cubitus valgus OMIM:161200 LMX1B 4010 HP:0003997 Hypoplastic radial head OMIM:161200 LMX1B 4010 HP:0002999 Patellar dislocation OMIM:161200 LMX1B 4010 HP:0002414 Spina bifida OMIM:161200 LMX1B 4010 HP:0001382 Joint hypermobility OMIM:161200 LMX1B 4010 HP:0000083 Renal insufficiency OMIM:161200 LMX1B 4010 HP:0009760 Antecubital pterygium OMIM:161200 LMX1B 4010 HP:0000100 Nephrotic syndrome OMIM:161200 LMX1B 4010 HP:0004209 Clinodactyly of the 5th finger OMIM:161200 LMX1B 4010 HP:0000006 Autosomal dominant inheritance OMIM:161200 LMX1B 4010 HP:0000093 Proteinuria OMIM:161200 LMX1B 4010 HP:0009781 Lester's sign OMIM:161200 LMX1B 4010 HP:0006443 Patellar aplasia OMIM:161200 LMX1B 4010 HP:0001032 Absent distal interphalangeal creases OMIM:161200 LMX1B 4010 HP:0001598 Concave nail OMIM:161200 LMX1B 4010 HP:0009788 Quadriceps aplasia OMIM:161200 LMX1B 4010 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:161200 LMX1B 4010 HP:0001763 Pes planus OMIM:161200 LMX1B 4010 HP:0001373 Joint dislocation OMIM:161200 LMX1B 4010 HP:0009785 Triceps aplasia OMIM:161200 LMX1B 4010 HP:0001376 Limitation of joint mobility OMIM:161200 LMX1B 4010 HP:0000407 Sensorineural hearing impairment OMIM:161200 LMX1B 4010 HP:0000204 Cleft upper lip OMIM:161200 LMX1B 4010 HP:0000822 Hypertension OMIM:161200 LMX1B 4010 HP:0002650 Scoliosis OMIM:161200 LMX1B 4010 HP:0006650 Thickening of the lateral border of the scapula OMIM:161200 LMX1B 4010 HP:0002938 Lumbar hyperlordosis OMIM:161200 LMX1B 4010 HP:0001807 Ridged nail OMIM:161200 LMX1B 4010 HP:0000112 Nephropathy OMIM:161200 LMX1B 4010 HP:0006657 Hypoplasia of first ribs OMIM:161200 LMX1B 4010 HP:0000501 Glaucoma OMIM:161200 LMX1B 4010 HP:0000482 Microcornea OMIM:161200 LMX1B 4010 HP:0001231 Abnormality of the fingernails OMIM:161200 LMX1B 4010 HP:0000175 Cleft palate OMIM:161200 LMX1B 4010 HP:0001377 Limited elbow extension OMIM:161200 LMX1B 4010 HP:0000563 Keratoconus OMIM:161200 LMX1B 4010 HP:0006633 Glenoid fossa hypoplasia OMIM:161200 LMX1B 4010 HP:0002758 Osteoarthritis OMIM:161200 LMX1B 4010 HP:0002633 Vasculitis OMIM:161200 LMX1B 4010 HP:0006424 Elongated radius OMIM:161200 LMX1B 4010 HP:0001762 Talipes equinovarus OMIM:161200 LMX1B 4010 HP:0012376 Microphakia OMIM:161200 LMX1B 4010 HP:0000365 Hearing impairment OMIM:161200 LMX1B 4010 HP:0000912 Sprengel anomaly OMIM:161200 LMX1B 4010 HP:0002652 Skeletal dysplasia OMIM:161200 LMX1B 4010 HP:0001800 Hypoplastic toenails OMIM:161200 LMX1B 4010 HP:0001386 Joint swelling OMIM:161200 LMX1B 4010 HP:0004322 Short stature OMIM:161200 LMX1B 4010 HP:0006437 Disproportionate prominence of the femoral medial condyle OMIM:161200 LMX1B 4010 HP:0000508 Ptosis OMIM:161200 LMX1B 4010 HP:0100820 Glomerulopathy OMIM:161200 LMX1B 4010 HP:0005255 Absence of pectoralis minor muscle OMIM:161200 LMX1B 4010 HP:0000767 Pectus excavatum OMIM:277180 CFTR 1080 HP:0000007 Autosomal recessive inheritance OMIM:277180 CFTR 1080 HP:0001425 Heterogeneous OMIM:277180 CFTR 1080 HP:0000027 Azoospermia ORPHANET:3103 ESCO2 157570 HP:0001511 Intrauterine growth retardation ORPHANET:3103 ESCO2 157570 HP:0001561 Polyhydramnios ORPHANET:3103 ESCO2 157570 HP:0009601 Aplasia/Hypoplasia of the thumb ORPHANET:3103 ESCO2 157570 HP:0009906 Aplasia/Hypoplasia of the earlobes ORPHANET:3103 ESCO2 157570 HP:0002974 Radioulnar synostosis ORPHANET:3103 ESCO2 157570 HP:0000028 Cryptorchidism ORPHANET:3103 ESCO2 157570 HP:0100543 Cognitive impairment ORPHANET:3103 ESCO2 157570 HP:0000501 Glaucoma ORPHANET:3103 ESCO2 157570 HP:0006101 Finger syndactyly ORPHANET:3103 ESCO2 157570 HP:0001622 Premature birth ORPHANET:3103 ESCO2 157570 HP:0006443 Patellar aplasia ORPHANET:3103 ESCO2 157570 HP:0002804 Arthrogryposis multiplex congenita ORPHANET:3103 ESCO2 157570 HP:0010669 Cheekbone underdevelopment ORPHANET:3103 ESCO2 157570 HP:0000954 Single transverse palmar crease ORPHANET:3103 ESCO2 157570 HP:0000430 Underdeveloped nasal alae ORPHANET:3103 ESCO2 157570 HP:0000316 Hypertelorism ORPHANET:3103 ESCO2 157570 HP:0000470 Short neck ORPHANET:3103 ESCO2 157570 HP:0005048 Synostosis of carpal bones ORPHANET:3103 ESCO2 157570 HP:0000518 Cataract ORPHANET:3103 ESCO2 157570 HP:0000252 Microcephaly ORPHANET:3103 ESCO2 157570 HP:0000040 Long penis ORPHANET:3103 ESCO2 157570 HP:0001873 Thrombocytopenia ORPHANET:3103 ESCO2 157570 HP:0011362 Abnormal hair quantity ORPHANET:3103 ESCO2 157570 HP:0004322 Short stature ORPHANET:3103 ESCO2 157570 HP:0000055 Abnormality of female external genitalia ORPHANET:3103 ESCO2 157570 HP:0000202 Oral cleft ORPHANET:3103 ESCO2 157570 HP:0000639 Nystagmus ORPHANET:3103 ESCO2 157570 HP:0009891 Underdeveloped supraorbital ridges ORPHANET:3103 ESCO2 157570 HP:0001852 Sandal gap ORPHANET:3103 ESCO2 157570 HP:0000174 Abnormality of the palate ORPHANET:3103 ESCO2 157570 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:3103 ESCO2 157570 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:3103 ESCO2 157570 HP:0001363 Craniosynostosis ORPHANET:3103 ESCO2 157570 HP:0009813 Upper limb phocomelia ORPHANET:3103 ESCO2 157570 HP:0000347 Micrognathia ORPHANET:3103 ESCO2 157570 HP:0006487 Bowing of the long bones ORPHANET:3103 ESCO2 157570 HP:0001156 Brachydactyly syndrome ORPHANET:3103 ESCO2 157570 HP:0000520 Proptosis ORPHANET:3103 ESCO2 157570 HP:0000592 Blue sclerae ORPHANET:3103 ESCO2 157570 HP:0000003 Multicystic kidney dysplasia ORPHANET:3103 ESCO2 157570 HP:0004209 Clinodactyly of the 5th finger ORPHANET:3103 ESCO2 157570 HP:0002564 Malformation of the heart and great vessels OMIM:260300 FBXO7 25793 HP:0002061 Lower limb spasticity OMIM:260300 FBXO7 25793 HP:0001762 Talipes equinovarus OMIM:260300 FBXO7 25793 HP:0001332 Dystonia OMIM:260300 FBXO7 25793 HP:0002548 Parkinsonism with favorable response to dopaminergic medication OMIM:260300 FBXO7 25793 HP:0002071 Abnormality of extrapyramidal motor function OMIM:260300 FBXO7 25793 HP:0003487 Babinski sign OMIM:260300 FBXO7 25793 HP:0000007 Autosomal recessive inheritance OMIM:260300 FBXO7 25793 HP:0001347 Hyperreflexia OMIM:260300 FBXO7 25793 HP:0000514 Slow saccadic eye movements OMIM:260300 FBXO7 25793 HP:0001337 Tremor OMIM:260300 FBXO7 25793 HP:0002172 Postural instability OMIM:260300 FBXO7 25793 HP:0001260 Dysarthria OMIM:260300 FBXO7 25793 HP:0011462 Young adult onset OMIM:260300 FBXO7 25793 HP:0012407 Scissor gait OMIM:260300 FBXO7 25793 HP:0002063 Rigidity OMIM:260300 FBXO7 25793 HP:0003677 Slow progression OMIM:260300 FBXO7 25793 HP:0002067 Bradykinesia OMIM:611880 TNNI3 7137 HP:0003621 Juvenile onset OMIM:611880 TNNI3 7137 HP:0001635 Congestive heart failure OMIM:611880 TNNI3 7137 HP:0011462 Young adult onset OMIM:611880 TNNI3 7137 HP:0001644 Dilated cardiomyopathy OMIM:611880 TNNI3 7137 HP:0000007 Autosomal recessive inheritance OMIM:219090 AIP 9049 HP:0100852 Abnormal fear/anxiety-related behavior OMIM:219090 AIP 9049 HP:0000978 Bruising susceptibility OMIM:219090 AIP 9049 HP:0001345 Psychotic mentation OMIM:219090 AIP 9049 HP:0001065 Striae distensae OMIM:219090 AIP 9049 HP:0010978 Abnormality of immune system physiology OMIM:219090 AIP 9049 HP:0002893 Pituitary adenoma OMIM:219090 AIP 9049 HP:0000869 Secondary amenorrhea OMIM:219090 AIP 9049 HP:0000518 Cataract OMIM:219090 AIP 9049 HP:0003198 Myopathy OMIM:219090 AIP 9049 HP:0000963 Thin skin OMIM:219090 AIP 9049 HP:0000144 Decreased fertility OMIM:219090 AIP 9049 HP:0004372 Reduced consciousness/confusion OMIM:219090 AIP 9049 HP:0010885 Aseptic necrosis OMIM:219090 AIP 9049 HP:0000787 Nephrolithiasis OMIM:219090 AIP 9049 HP:0001041 Facial erythema OMIM:219090 AIP 9049 HP:0000833 Glucose intolerance OMIM:219090 AIP 9049 HP:0002757 Recurrent fractures OMIM:219090 AIP 9049 HP:0003202 Skeletal muscle atrophy OMIM:219090 AIP 9049 HP:0001818 Paronychia OMIM:219090 AIP 9049 HP:0001956 Truncal obesity OMIM:219090 AIP 9049 HP:0000311 Round face OMIM:219090 AIP 9049 HP:0000969 Edema OMIM:219090 AIP 9049 HP:0000939 Osteoporosis OMIM:219090 AIP 9049 HP:0100568 Neoplasm of the endocrine system OMIM:219090 AIP 9049 HP:0001061 Acne OMIM:219090 AIP 9049 HP:0000819 Diabetes mellitus OMIM:219090 AIP 9049 HP:0000979 Purpura OMIM:219090 AIP 9049 HP:0012743 Abdominal obesity OMIM:219090 AIP 9049 HP:0001058 Poor wound healing OMIM:219090 AIP 9049 HP:0004295 Abnormality of the gastric mucosa OMIM:219090 AIP 9049 HP:0000876 Oligomenorrhea OMIM:219090 AIP 9049 HP:0001007 Hirsutism OMIM:219090 AIP 9049 HP:0004586 Biconcave vertebral bodies OMIM:219090 AIP 9049 HP:0002808 Kyphosis OMIM:219090 AIP 9049 HP:0001578 Hypercortisolism OMIM:219090 AIP 9049 HP:0002027 Abdominal pain OMIM:219090 AIP 9049 HP:0002900 Hypokalemia OMIM:219090 AIP 9049 HP:0003154 Increased circulating ACTH level OMIM:219090 AIP 9049 HP:0001639 Hypertrophic cardiomyopathy OMIM:219090 AIP 9049 HP:0100585 Teleangiectasia of the skin OMIM:219090 AIP 9049 HP:0200042 Skin ulcer OMIM:219090 AIP 9049 HP:0000998 Hypertrichosis OMIM:219090 AIP 9049 HP:0000822 Hypertension OMIM:219090 AIP 9049 HP:0001948 Alkalosis OMIM:219090 AIP 9049 HP:0002076 Migraine OMIM:219090 AIP 9049 HP:0004349 Reduced bone mineral density OMIM:219090 AIP 9049 HP:0009124 Abnormality of adipose tissue OMIM:219090 AIP 9049 HP:0002953 Vertebral compression fractures OMIM:219090 AIP 9049 HP:0000505 Visual impairment OMIM:219090 AIP 9049 HP:0002360 Sleep disturbance OMIM:219090 AIP 9049 HP:0004418 Thrombophlebitis OMIM:219090 AIP 9049 HP:0007440 Generalized hyperpigmentation OMIM:603513 GAD1 2571 HP:0001250 Seizures OMIM:603513 GAD1 2571 HP:0001264 Spastic diplegia OMIM:603513 GAD1 2571 HP:0003487 Babinski sign OMIM:603513 GAD1 2571 HP:0002650 Scoliosis OMIM:603513 GAD1 2571 HP:0100021 Cerebral palsy OMIM:603513 GAD1 2571 HP:0000007 Autosomal recessive inheritance OMIM:603513 GAD1 2571 HP:0001249 Intellectual disability OMIM:603513 GAD1 2571 HP:0000252 Microcephaly OMIM:603513 GAD1 2571 HP:0001371 Flexion contracture OMIM:603513 GAD1 2571 HP:0001347 Hyperreflexia OMIM:603513 GAD1 2571 HP:0001425 Heterogeneous OMIM:603513 GAD1 2571 HP:0001263 Global developmental delay OMIM:603513 GAD1 2571 HP:0002510 Spastic tetraplegia OMIM:603513 GAD1 2571 HP:0003593 Infantile onset OMIM:255200 BIN1 274 HP:0003700 Generalized amyotrophy OMIM:255200 BIN1 274 HP:0001270 Motor delay OMIM:255200 BIN1 274 HP:0001260 Dysarthria OMIM:255200 BIN1 274 HP:0001256 Intellectual disability, mild OMIM:255200 BIN1 274 HP:0002650 Scoliosis OMIM:255200 BIN1 274 HP:0000276 Long face OMIM:255200 BIN1 274 HP:0001761 Pes cavus OMIM:255200 BIN1 274 HP:0001762 Talipes equinovarus OMIM:255200 BIN1 274 HP:0001284 Areflexia OMIM:255200 BIN1 274 HP:0002460 Distal muscle weakness OMIM:255200 BIN1 274 HP:0003307 Hyperlordosis OMIM:255200 BIN1 274 HP:0000218 High palate OMIM:255200 BIN1 274 HP:0002808 Kyphosis OMIM:255200 BIN1 274 HP:0000007 Autosomal recessive inheritance OMIM:255200 BIN1 274 HP:0001319 Neonatal hypotonia OMIM:255200 BIN1 274 HP:0002515 Waddling gait OMIM:255200 BIN1 274 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:255200 BIN1 274 HP:0003458 EMG: myopathic abnormalities OMIM:255200 BIN1 274 HP:0000602 Ophthalmoplegia OMIM:255200 BIN1 274 HP:0003691 Scapular winging OMIM:255200 BIN1 274 HP:0003391 Gowers sign OMIM:255200 BIN1 274 HP:0000508 Ptosis OMIM:255200 BIN1 274 HP:0001618 Dysphonia OMIM:255200 BIN1 274 HP:0003687 Centrally nucleated skeletal muscle fibers OMIM:255200 BIN1 274 HP:0003327 Axial muscle weakness OMIM:255200 BIN1 274 HP:0008872 Feeding difficulties in infancy OMIM:255200 BIN1 274 HP:0001371 Flexion contracture OMIM:255200 BIN1 274 HP:0003674 Onset OMIM:255200 BIN1 274 HP:0010628 Facial palsy OMIM:611225 ERLIN2 11160 HP:0003202 Skeletal muscle atrophy OMIM:611225 ERLIN2 11160 HP:0002808 Kyphosis OMIM:611225 ERLIN2 11160 HP:0001761 Pes cavus OMIM:611225 ERLIN2 11160 HP:0003487 Babinski sign OMIM:611225 ERLIN2 11160 HP:0001249 Intellectual disability OMIM:611225 ERLIN2 11160 HP:0006986 Upper limb spasticity OMIM:611225 ERLIN2 11160 HP:0003677 Slow progression OMIM:611225 ERLIN2 11160 HP:0001250 Seizures OMIM:611225 ERLIN2 11160 HP:0001288 Gait disturbance OMIM:611225 ERLIN2 11160 HP:0002079 Hypoplasia of the corpus callosum OMIM:611225 ERLIN2 11160 HP:0001344 Absent speech OMIM:611225 ERLIN2 11160 HP:0000486 Strabismus OMIM:611225 ERLIN2 11160 HP:0001258 Spastic paraplegia OMIM:611225 ERLIN2 11160 HP:0000218 High palate OMIM:611225 ERLIN2 11160 HP:0001347 Hyperreflexia OMIM:611225 ERLIN2 11160 HP:0002650 Scoliosis OMIM:611225 ERLIN2 11160 HP:0007340 Lower limb muscle weakness OMIM:611225 ERLIN2 11160 HP:0003676 Progressive disorder OMIM:611225 ERLIN2 11160 HP:0000007 Autosomal recessive inheritance ORPHANET:83469 EWSR1 2130 HP:0100526 Neoplasm of the lung ORPHANET:83469 EWSR1 2130 HP:0007378 Neoplasm of the gastrointestinal tract ORPHANET:83469 EWSR1 2130 HP:0002017 Nausea and vomiting ORPHANET:83469 EWSR1 2130 HP:0001903 Anemia ORPHANET:83469 EWSR1 2130 HP:0004375 Neoplasm of the nervous system ORPHANET:83469 EWSR1 2130 HP:0100721 Mediastinal lymphadenopathy ORPHANET:83469 EWSR1 2130 HP:0005214 Intestinal obstruction ORPHANET:83469 EWSR1 2130 HP:0002894 Neoplasm of the pancreas ORPHANET:83469 EWSR1 2130 HP:0100242 Sarcoma ORPHANET:83469 EWSR1 2130 HP:0002240 Hepatomegaly ORPHANET:83469 EWSR1 2130 HP:0100615 Ovarian neoplasm ORPHANET:83469 EWSR1 2130 HP:0002027 Abdominal pain ORPHANET:83469 EWSR1 2130 HP:0000035 Abnormality of the testis ORPHANET:83469 EWSR1 2130 HP:0001541 Ascites ORPHANET:83469 EWSR1 2130 HP:0002585 Abnormality of the peritoneum ORPHANET:83469 EWSR1 2130 HP:0001824 Weight loss ORPHANET:83469 WT1 7490 HP:0100526 Neoplasm of the lung ORPHANET:83469 WT1 7490 HP:0007378 Neoplasm of the gastrointestinal tract ORPHANET:83469 WT1 7490 HP:0002017 Nausea and vomiting ORPHANET:83469 WT1 7490 HP:0001903 Anemia ORPHANET:83469 WT1 7490 HP:0004375 Neoplasm of the nervous system ORPHANET:83469 WT1 7490 HP:0100721 Mediastinal lymphadenopathy ORPHANET:83469 WT1 7490 HP:0005214 Intestinal obstruction ORPHANET:83469 WT1 7490 HP:0002894 Neoplasm of the pancreas ORPHANET:83469 WT1 7490 HP:0100242 Sarcoma ORPHANET:83469 WT1 7490 HP:0002240 Hepatomegaly ORPHANET:83469 WT1 7490 HP:0100615 Ovarian neoplasm ORPHANET:83469 WT1 7490 HP:0002027 Abdominal pain ORPHANET:83469 WT1 7490 HP:0000035 Abnormality of the testis ORPHANET:83469 WT1 7490 HP:0001541 Ascites ORPHANET:83469 WT1 7490 HP:0002585 Abnormality of the peritoneum ORPHANET:83469 WT1 7490 HP:0001824 Weight loss OMIM:605376 CFC1 55997 HP:0011537 Left atrial isomerism OMIM:605376 CFC1 55997 HP:0000006 Autosomal dominant inheritance OMIM:605376 CFC1 55997 HP:0003363 Abdominal situs inversus OMIM:605376 CFC1 55997 HP:0006695 Atrioventricular canal defect OMIM:605376 CFC1 55997 HP:0011599 Mesocardia OMIM:613615 SDCCAG8 10806 HP:0000090 Nephronophthisis OMIM:613615 SDCCAG8 10806 HP:0000546 Retinal degeneration OMIM:613615 SDCCAG8 10806 HP:0000007 Autosomal recessive inheritance OMIM:610042 CNTNAP2 26047 HP:0002194 Delayed gross motor development OMIM:610042 CNTNAP2 26047 HP:0007064 Progressive language deterioration OMIM:610042 CNTNAP2 26047 HP:0001315 Reduced tendon reflexes OMIM:610042 CNTNAP2 26047 HP:0000752 Hyperactivity OMIM:610042 CNTNAP2 26047 HP:0002539 Cortical dysplasia OMIM:610042 CNTNAP2 26047 HP:0000735 Impaired social interactions OMIM:610042 CNTNAP2 26047 HP:0001249 Intellectual disability OMIM:610042 CNTNAP2 26047 HP:0001250 Seizures OMIM:230450 GCLC 2729 HP:0001939 Abnormality of metabolism/homeostasis OMIM:230450 GCLC 2729 HP:0006904 Late-onset spinocerebellar degeneration OMIM:230450 GCLC 2729 HP:0001903 Anemia OMIM:230450 GCLC 2729 HP:0000007 Autosomal recessive inheritance OMIM:230450 GCLC 2729 HP:0003198 Myopathy OMIM:230450 GCLC 2729 HP:0001878 Hemolytic anemia OMIM:230450 GCLC 2729 HP:0001271 Polyneuropathy OMIM:300905 PDK3 5165 HP:0001423 X-linked dominant inheritance OMIM:300905 PDK3 5165 HP:0003677 Slow progression OMIM:300905 PDK3 5165 HP:0003376 Steppage gait OMIM:300905 PDK3 5165 HP:0000407 Sensorineural hearing impairment OMIM:300905 PDK3 5165 HP:0030237 Hand muscle weakness OMIM:300905 PDK3 5165 HP:0002378 Hand tremor OMIM:300905 PDK3 5165 HP:0001761 Pes cavus OMIM:162091 NF2 4771 HP:0002858 Meningioma OMIM:162091 NF2 4771 HP:0000951 Abnormality of the skin OMIM:162091 NF2 4771 HP:0000925 Abnormality of the vertebral column OMIM:162091 NF2 4771 HP:0001428 Somatic mutation OMIM:162091 NF2 4771 HP:0010302 Spinal cord tumor OMIM:162091 NF2 4771 HP:0003828 Variable expressivity OMIM:162091 NF2 4771 HP:0000006 Autosomal dominant inheritance OMIM:162091 NF2 4771 HP:0003829 Incomplete penetrance OMIM:162091 NF2 4771 HP:0100008 Schwannoma OMIM:614499 CRADD 8738 HP:0001249 Intellectual disability OMIM:614499 CRADD 8738 HP:0000007 Autosomal recessive inheritance OMIM:148300 VSX1 30813 HP:0001425 Heterogeneous OMIM:148300 VSX1 30813 HP:0000563 Keratoconus OMIM:148300 VSX1 30813 HP:0000483 Astigmatism OMIM:148300 VSX1 30813 HP:0011462 Young adult onset OMIM:148300 VSX1 30813 HP:0000006 Autosomal dominant inheritance OMIM:312750 MECP2 4204 HP:0002311 Incoordination OMIM:312750 MECP2 4204 HP:0002376 Developmental regression OMIM:312750 MECP2 4204 HP:0000729 Autistic behavior OMIM:312750 MECP2 4204 HP:0004322 Short stature OMIM:312750 MECP2 4204 HP:0004349 Reduced bone mineral density OMIM:312750 MECP2 4204 HP:0004879 Intermittent hyperventilation OMIM:312750 MECP2 4204 HP:0002353 EEG abnormality OMIM:312750 MECP2 4204 HP:0003763 Bruxism OMIM:312750 MECP2 4204 HP:0005184 Prolonged QTc interval OMIM:312750 MECP2 4204 HP:0010521 Gait apraxia OMIM:312750 MECP2 4204 HP:0005135 EKG: T-wave abnormalities OMIM:312750 MECP2 4204 HP:0001376 Limitation of joint mobility OMIM:312750 MECP2 4204 HP:0002104 Apnea OMIM:312750 MECP2 4204 HP:0002120 Cerebral cortical atrophy OMIM:312750 MECP2 4204 HP:0100716 Self-injurious behavior OMIM:312750 MECP2 4204 HP:0004326 Cachexia OMIM:312750 MECP2 4204 HP:0002093 Respiratory insufficiency OMIM:312750 MECP2 4204 HP:0002078 Truncal ataxia OMIM:312750 MECP2 4204 HP:0001608 Abnormality of the voice OMIM:312750 MECP2 4204 HP:0002167 Neurological speech impairment OMIM:312750 MECP2 4204 HP:0001250 Seizures OMIM:312750 MECP2 4204 HP:0002650 Scoliosis OMIM:312750 MECP2 4204 HP:0000717 Autism OMIM:312750 MECP2 4204 HP:0001324 Muscle weakness OMIM:312750 MECP2 4204 HP:0001276 Hypertonia OMIM:312750 MECP2 4204 HP:0002808 Kyphosis OMIM:312750 MECP2 4204 HP:0002020 Gastroesophageal reflux OMIM:312750 MECP2 4204 HP:0001423 X-linked dominant inheritance OMIM:312750 MECP2 4204 HP:0002240 Hepatomegaly OMIM:312750 MECP2 4204 HP:0005484 Postnatal microcephaly OMIM:312750 MECP2 4204 HP:0002360 Sleep disturbance OMIM:312750 MECP2 4204 HP:0001257 Spasticity OMIM:312750 MECP2 4204 HP:0000252 Microcephaly OMIM:312750 MECP2 4204 HP:0003202 Skeletal muscle atrophy OMIM:312750 MECP2 4204 HP:0002333 Motor deterioration OMIM:312750 MECP2 4204 HP:0001332 Dystonia OMIM:312750 MECP2 4204 HP:0000478 Abnormality of the eye OMIM:312750 MECP2 4204 HP:0002187 Intellectual disability, profound OMIM:312750 MECP2 4204 HP:0001337 Tremor OMIM:312750 MECP2 4204 HP:0001288 Gait disturbance OMIM:312750 MECP2 4204 HP:0002066 Gait ataxia OMIM:312750 MECP2 4204 HP:0002019 Constipation OMIM:312750 MECP2 4204 HP:0011675 Arrhythmia OMIM:312750 MECP2 4204 HP:0000733 Stereotypic behavior OMIM:312750 MECP2 4204 HP:0000164 Abnormality of the teeth OMIM:312750 MECP2 4204 HP:0004374 Hemiplegia/hemiparesis OMIM:312750 MECP2 4204 HP:0001773 Short foot OMIM:312750 MECP2 4204 HP:0002270 Abnormality of the autonomic nervous system ORPHANET:83473 PIK3R2 5296 HP:0002269 Abnormality of neuronal migration ORPHANET:83473 PIK3R2 5296 HP:0005105 Abnormal nasal morphology ORPHANET:83473 PIK3R2 5296 HP:0100542 Abnormal localization of kidney ORPHANET:83473 PIK3R2 5296 HP:0001629 Ventricular septal defect ORPHANET:83473 PIK3R2 5296 HP:0005280 Depressed nasal bridge ORPHANET:83473 PIK3R2 5296 HP:0000348 High forehead ORPHANET:83473 PIK3R2 5296 HP:0000256 Macrocephaly ORPHANET:83473 PIK3R2 5296 HP:0000506 Telecanthus ORPHANET:83473 PIK3R2 5296 HP:0001250 Seizures ORPHANET:83473 PIK3R2 5296 HP:0001162 Postaxial hand polydactyly ORPHANET:83473 PIK3R2 5296 HP:0001633 Abnormality of the mitral valve ORPHANET:83473 PIK3R2 5296 HP:0000316 Hypertelorism ORPHANET:83473 PIK3R2 5296 HP:0000160 Narrow mouth ORPHANET:83473 PIK3R2 5296 HP:0000238 Hydrocephalus ORPHANET:83473 AKT3 10000 HP:0002269 Abnormality of neuronal migration ORPHANET:83473 AKT3 10000 HP:0005105 Abnormal nasal morphology ORPHANET:83473 AKT3 10000 HP:0100542 Abnormal localization of kidney ORPHANET:83473 AKT3 10000 HP:0001629 Ventricular septal defect ORPHANET:83473 AKT3 10000 HP:0005280 Depressed nasal bridge ORPHANET:83473 AKT3 10000 HP:0000348 High forehead ORPHANET:83473 AKT3 10000 HP:0000256 Macrocephaly ORPHANET:83473 AKT3 10000 HP:0000506 Telecanthus ORPHANET:83473 AKT3 10000 HP:0001250 Seizures ORPHANET:83473 AKT3 10000 HP:0001162 Postaxial hand polydactyly ORPHANET:83473 AKT3 10000 HP:0001633 Abnormality of the mitral valve ORPHANET:83473 AKT3 10000 HP:0000316 Hypertelorism ORPHANET:83473 AKT3 10000 HP:0000160 Narrow mouth ORPHANET:83473 AKT3 10000 HP:0000238 Hydrocephalus ORPHANET:83473 CCND2 894 HP:0002269 Abnormality of neuronal migration ORPHANET:83473 CCND2 894 HP:0005105 Abnormal nasal morphology ORPHANET:83473 CCND2 894 HP:0100542 Abnormal localization of kidney ORPHANET:83473 CCND2 894 HP:0001629 Ventricular septal defect ORPHANET:83473 CCND2 894 HP:0005280 Depressed nasal bridge ORPHANET:83473 CCND2 894 HP:0000348 High forehead ORPHANET:83473 CCND2 894 HP:0000256 Macrocephaly ORPHANET:83473 CCND2 894 HP:0000506 Telecanthus ORPHANET:83473 CCND2 894 HP:0001250 Seizures ORPHANET:83473 CCND2 894 HP:0001162 Postaxial hand polydactyly ORPHANET:83473 CCND2 894 HP:0001633 Abnormality of the mitral valve ORPHANET:83473 CCND2 894 HP:0000316 Hypertelorism ORPHANET:83473 CCND2 894 HP:0000160 Narrow mouth ORPHANET:83473 CCND2 894 HP:0000238 Hydrocephalus OMIM:193500 PAX3 5077 HP:0007990 Hypoplastic iris stroma OMIM:193500 PAX3 5077 HP:0001100 Heterochromia iridis OMIM:193500 PAX3 5077 HP:0008527 Congenital sensorineural hearing impairment OMIM:193500 PAX3 5077 HP:0000581 Blepharophimosis OMIM:193500 PAX3 5077 HP:0000912 Sprengel anomaly OMIM:193500 PAX3 5077 HP:0000319 Smooth philtrum OMIM:193500 PAX3 5077 HP:0002216 Premature graying of hair OMIM:193500 PAX3 5077 HP:0000303 Mandibular prognathia OMIM:193500 PAX3 5077 HP:0000204 Cleft upper lip OMIM:193500 PAX3 5077 HP:0002251 Aganglionic megacolon OMIM:193500 PAX3 5077 HP:0000202 Oral cleft OMIM:193500 PAX3 5077 HP:0002564 Malformation of the heart and great vessels OMIM:193500 PAX3 5077 HP:0000486 Strabismus OMIM:193500 PAX3 5077 HP:0000664 Synophrys OMIM:193500 PAX3 5077 HP:0002946 Supernumerary vertebrae OMIM:193500 PAX3 5077 HP:0000006 Autosomal dominant inheritance OMIM:193500 PAX3 5077 HP:0002650 Scoliosis OMIM:193500 PAX3 5077 HP:0002475 Myelomeningocele OMIM:193500 PAX3 5077 HP:0010804 Tented upper lip vermilion OMIM:193500 PAX3 5077 HP:0003196 Short nose OMIM:193500 PAX3 5077 HP:0000632 Lacrimation abnormality OMIM:193500 PAX3 5077 HP:0005815 Supernumerary ribs OMIM:193500 PAX3 5077 HP:0002211 White forelock OMIM:193500 PAX3 5077 HP:0000430 Underdeveloped nasal alae OMIM:193500 PAX3 5077 HP:0000175 Cleft palate OMIM:193500 PAX3 5077 HP:0007443 Partial albinism OMIM:193500 PAX3 5077 HP:0001053 Hypopigmented skin patches OMIM:193500 PAX3 5077 HP:0000508 Ptosis OMIM:193500 PAX3 5077 HP:0002227 White eyelashes OMIM:193500 PAX3 5077 HP:0000431 Wide nasal bridge OMIM:193500 PAX3 5077 HP:0002226 White eyebrow OMIM:193500 PAX3 5077 HP:0002435 Meningocele OMIM:193500 PAX3 5077 HP:0000365 Hearing impairment OMIM:193500 PAX3 5077 HP:0000316 Hypertelorism OMIM:193500 PAX3 5077 HP:0000506 Telecanthus OMIM:193500 PAX3 5077 HP:0000574 Thick eyebrow OMIM:193500 PAX3 5077 HP:0003250 Aplasia of the vagina OMIM:193500 PAX3 5077 HP:0001487 Hypopigmented fundi OMIM:241080 DCAF17 80067 HP:0003077 Hyperlipidemia OMIM:241080 DCAF17 80067 HP:0003812 Phenotypic variability OMIM:241080 DCAF17 80067 HP:0001260 Dysarthria OMIM:241080 DCAF17 80067 HP:0002925 Thyroid-stimulating hormone excess OMIM:241080 DCAF17 80067 HP:0001266 Choreoathetosis OMIM:241080 DCAF17 80067 HP:0005135 EKG: T-wave abnormalities OMIM:241080 DCAF17 80067 HP:0008070 Sparse hair OMIM:241080 DCAF17 80067 HP:0000815 Hypergonadotropic hypogonadism OMIM:241080 DCAF17 80067 HP:0000709 Psychosis OMIM:241080 DCAF17 80067 HP:0000426 Prominent nasal bridge OMIM:241080 DCAF17 80067 HP:0008734 Decreased testicular size OMIM:241080 DCAF17 80067 HP:0000054 Micropenis OMIM:241080 DCAF17 80067 HP:0000013 Hypoplasia of the uterus OMIM:241080 DCAF17 80067 HP:0000044 Hypogonadotrophic hypogonadism OMIM:241080 DCAF17 80067 HP:0001332 Dystonia OMIM:241080 DCAF17 80067 HP:0100651 Type I diabetes mellitus OMIM:241080 DCAF17 80067 HP:0000738 Hallucinations OMIM:241080 DCAF17 80067 HP:0008697 Hypoplasia of the fallopian tube OMIM:241080 DCAF17 80067 HP:0000365 Hearing impairment OMIM:241080 DCAF17 80067 HP:0001249 Intellectual disability OMIM:241080 DCAF17 80067 HP:0000407 Sensorineural hearing impairment OMIM:241080 DCAF17 80067 HP:0000325 Triangular face OMIM:241080 DCAF17 80067 HP:0000078 Abnormality of the genital system OMIM:241080 DCAF17 80067 HP:0000674 Anodontia OMIM:241080 DCAF17 80067 HP:0000411 Protruding ear OMIM:241080 DCAF17 80067 HP:0002071 Abnormality of extrapyramidal motor function OMIM:241080 DCAF17 80067 HP:0100543 Cognitive impairment OMIM:241080 DCAF17 80067 HP:0000007 Autosomal recessive inheritance OMIM:241080 DCAF17 80067 HP:0001596 Alopecia OMIM:241080 DCAF17 80067 HP:0002213 Fine hair OMIM:241080 DCAF17 80067 HP:0011675 Arrhythmia OMIM:241080 DCAF17 80067 HP:0000819 Diabetes mellitus OMIM:241080 DCAF17 80067 HP:0001587 Primary ovarian failure OMIM:614292 P3H2 55214 HP:0001132 Lens subluxation OMIM:614292 P3H2 55214 HP:0000541 Retinal detachment OMIM:614292 P3H2 55214 HP:0011003 Severe Myopia OMIM:614292 P3H2 55214 HP:0000007 Autosomal recessive inheritance OMIM:614292 P3H2 55214 HP:0200071 Peripheral vitreoretinal degeneration OMIM:614292 P3H2 55214 HP:0000518 Cataract OMIM:610628 PROK2 60675 HP:0000028 Cryptorchidism OMIM:610628 PROK2 60675 HP:0000006 Autosomal dominant inheritance OMIM:610628 PROK2 60675 HP:0001250 Seizures OMIM:610628 PROK2 60675 HP:0008734 Decreased testicular size OMIM:610628 PROK2 60675 HP:0001513 Obesity OMIM:610628 PROK2 60675 HP:0000044 Hypogonadotrophic hypogonadism OMIM:610628 PROK2 60675 HP:0000786 Primary amenorrhea OMIM:610628 PROK2 60675 HP:0000939 Osteoporosis OMIM:610628 PROK2 60675 HP:0000458 Anosmia OMIM:610628 PROK2 60675 HP:0000054 Micropenis OMIM:610628 PROK2 60675 HP:0000819 Diabetes mellitus OMIM:304700 TIMM8A 1678 HP:0008596 Postlingual sensorineural hearing impairment OMIM:304700 TIMM8A 1678 HP:0001133 Constricted visual fields OMIM:304700 TIMM8A 1678 HP:0001332 Dystonia OMIM:304700 TIMM8A 1678 HP:0000545 Myopia OMIM:304700 TIMM8A 1678 HP:0000408 Progressive sensorineural hearing impairment OMIM:304700 TIMM8A 1678 HP:0000613 Photophobia OMIM:304700 TIMM8A 1678 HP:0002659 Increased susceptibility to fractures OMIM:304700 TIMM8A 1678 HP:0001260 Dysarthria OMIM:304700 TIMM8A 1678 HP:0002015 Dysphagia OMIM:304700 TIMM8A 1678 HP:0001419 X-linked recessive inheritance OMIM:304700 TIMM8A 1678 HP:0001268 Mental deterioration OMIM:304700 TIMM8A 1678 HP:0011463 Childhood onset OMIM:304700 TIMM8A 1678 HP:0001257 Spasticity OMIM:304700 TIMM8A 1678 HP:0002533 Abnormal posturing OMIM:304700 TIMM8A 1678 HP:0000512 Abnormal electroretinogram OMIM:304700 TIMM8A 1678 HP:0001337 Tremor OMIM:304700 TIMM8A 1678 HP:0000505 Visual impairment OMIM:304700 TIMM8A 1678 HP:0100704 Cortical visual impairment OMIM:304700 TIMM8A 1678 HP:0001347 Hyperreflexia OMIM:601596 SH3TC2 79628 HP:0000007 Autosomal recessive inheritance OMIM:601596 SH3TC2 79628 HP:0003387 Decreased number of large peripheral myelinated nerve fibers OMIM:601596 SH3TC2 79628 HP:0002355 Difficulty walking OMIM:601596 SH3TC2 79628 HP:0003693 Distal amyotrophy OMIM:601596 SH3TC2 79628 HP:0007107 Segmental peripheral demyelination OMIM:601596 SH3TC2 79628 HP:0003400 Basal lamina 'onion bulb' formation OMIM:601596 SH3TC2 79628 HP:0000639 Nystagmus OMIM:601596 SH3TC2 79628 HP:0002460 Distal muscle weakness OMIM:601596 SH3TC2 79628 HP:0010628 Facial palsy OMIM:601596 SH3TC2 79628 HP:0003812 Phenotypic variability OMIM:601596 SH3TC2 79628 HP:0000365 Hearing impairment OMIM:601596 SH3TC2 79628 HP:0001761 Pes cavus OMIM:601596 SH3TC2 79628 HP:0001308 Tongue fasciculations OMIM:601596 SH3TC2 79628 HP:0007695 Abnormal pupillary light reflex OMIM:601596 SH3TC2 79628 HP:0003484 Upper limb muscle weakness OMIM:601596 SH3TC2 79628 HP:0012473 Tongue atrophy OMIM:601596 SH3TC2 79628 HP:0004466 Prolonged brainstem auditory evoked potentials OMIM:601596 SH3TC2 79628 HP:0001270 Motor delay OMIM:601596 SH3TC2 79628 HP:0000764 Peripheral axonal degeneration OMIM:601596 SH3TC2 79628 HP:0003431 Decreased motor nerve conduction velocity OMIM:601596 SH3TC2 79628 HP:0002936 Distal sensory impairment OMIM:601596 SH3TC2 79628 HP:0002650 Scoliosis ORPHANET:313 CYP4F22 126410 HP:0100806 Sepsis ORPHANET:313 CYP4F22 126410 HP:0001597 Abnormality of the nail ORPHANET:313 CYP4F22 126410 HP:0002205 Recurrent respiratory infections ORPHANET:313 CYP4F22 126410 HP:0000492 Abnormality of the eyelid ORPHANET:313 CYP4F22 126410 HP:0100758 Gangrene ORPHANET:313 CYP4F22 126410 HP:0001944 Dehydration ORPHANET:313 CYP4F22 126410 HP:0011362 Abnormal hair quantity ORPHANET:313 CYP4F22 126410 HP:0000388 Otitis media ORPHANET:313 CYP4F22 126410 HP:0008064 Ichthyosis ORPHANET:313 CYP4F22 126410 HP:0000962 Hyperkeratosis ORPHANET:313 CYP4F22 126410 HP:0000989 Pruritus ORPHANET:313 CYP4F22 126410 HP:0100679 Lack of skin elasticity ORPHANET:313 CYP4F22 126410 HP:0011039 Abnormality of the helix ORPHANET:313 CYP4F22 126410 HP:0000083 Renal insufficiency ORPHANET:313 CYP4F22 126410 HP:0000958 Dry skin ORPHANET:313 CYP4F22 126410 HP:0100543 Cognitive impairment ORPHANET:313 CYP4F22 126410 HP:0000232 Everted lower lip vermilion ORPHANET:313 CYP4F22 126410 HP:0004322 Short stature ORPHANET:313 CYP4F22 126410 HP:0000164 Abnormality of the teeth ORPHANET:313 CYP4F22 126410 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:313 ABCA12 26154 HP:0100806 Sepsis ORPHANET:313 ABCA12 26154 HP:0001597 Abnormality of the nail ORPHANET:313 ABCA12 26154 HP:0002205 Recurrent respiratory infections ORPHANET:313 ABCA12 26154 HP:0000492 Abnormality of the eyelid ORPHANET:313 ABCA12 26154 HP:0100758 Gangrene ORPHANET:313 ABCA12 26154 HP:0001944 Dehydration ORPHANET:313 ABCA12 26154 HP:0011362 Abnormal hair quantity ORPHANET:313 ABCA12 26154 HP:0000388 Otitis media ORPHANET:313 ABCA12 26154 HP:0008064 Ichthyosis ORPHANET:313 ABCA12 26154 HP:0000962 Hyperkeratosis ORPHANET:313 ABCA12 26154 HP:0000989 Pruritus ORPHANET:313 ABCA12 26154 HP:0100679 Lack of skin elasticity ORPHANET:313 ABCA12 26154 HP:0011039 Abnormality of the helix ORPHANET:313 ABCA12 26154 HP:0000083 Renal insufficiency ORPHANET:313 ABCA12 26154 HP:0000958 Dry skin ORPHANET:313 ABCA12 26154 HP:0100543 Cognitive impairment ORPHANET:313 ABCA12 26154 HP:0000232 Everted lower lip vermilion ORPHANET:313 ABCA12 26154 HP:0004322 Short stature ORPHANET:313 ABCA12 26154 HP:0000164 Abnormality of the teeth ORPHANET:313 ABCA12 26154 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:313 TGM1 7051 HP:0100806 Sepsis ORPHANET:313 TGM1 7051 HP:0001597 Abnormality of the nail ORPHANET:313 TGM1 7051 HP:0002205 Recurrent respiratory infections ORPHANET:313 TGM1 7051 HP:0000492 Abnormality of the eyelid ORPHANET:313 TGM1 7051 HP:0100758 Gangrene ORPHANET:313 TGM1 7051 HP:0001944 Dehydration ORPHANET:313 TGM1 7051 HP:0011362 Abnormal hair quantity ORPHANET:313 TGM1 7051 HP:0000388 Otitis media ORPHANET:313 TGM1 7051 HP:0008064 Ichthyosis ORPHANET:313 TGM1 7051 HP:0000962 Hyperkeratosis ORPHANET:313 TGM1 7051 HP:0000989 Pruritus ORPHANET:313 TGM1 7051 HP:0100679 Lack of skin elasticity ORPHANET:313 TGM1 7051 HP:0011039 Abnormality of the helix ORPHANET:313 TGM1 7051 HP:0000083 Renal insufficiency ORPHANET:313 TGM1 7051 HP:0000958 Dry skin ORPHANET:313 TGM1 7051 HP:0100543 Cognitive impairment ORPHANET:313 TGM1 7051 HP:0000232 Everted lower lip vermilion ORPHANET:313 TGM1 7051 HP:0004322 Short stature ORPHANET:313 TGM1 7051 HP:0000164 Abnormality of the teeth ORPHANET:313 TGM1 7051 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:313 LIPN 643418 HP:0100806 Sepsis ORPHANET:313 LIPN 643418 HP:0001597 Abnormality of the nail ORPHANET:313 LIPN 643418 HP:0002205 Recurrent respiratory infections ORPHANET:313 LIPN 643418 HP:0000492 Abnormality of the eyelid ORPHANET:313 LIPN 643418 HP:0100758 Gangrene ORPHANET:313 LIPN 643418 HP:0001944 Dehydration ORPHANET:313 LIPN 643418 HP:0011362 Abnormal hair quantity ORPHANET:313 LIPN 643418 HP:0000388 Otitis media ORPHANET:313 LIPN 643418 HP:0008064 Ichthyosis ORPHANET:313 LIPN 643418 HP:0000962 Hyperkeratosis ORPHANET:313 LIPN 643418 HP:0000989 Pruritus ORPHANET:313 LIPN 643418 HP:0100679 Lack of skin elasticity ORPHANET:313 LIPN 643418 HP:0011039 Abnormality of the helix ORPHANET:313 LIPN 643418 HP:0000083 Renal insufficiency ORPHANET:313 LIPN 643418 HP:0000958 Dry skin ORPHANET:313 LIPN 643418 HP:0100543 Cognitive impairment ORPHANET:313 LIPN 643418 HP:0000232 Everted lower lip vermilion ORPHANET:313 LIPN 643418 HP:0004322 Short stature ORPHANET:313 LIPN 643418 HP:0000164 Abnormality of the teeth ORPHANET:313 LIPN 643418 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:313 NIPAL4 348938 HP:0100806 Sepsis ORPHANET:313 NIPAL4 348938 HP:0001597 Abnormality of the nail ORPHANET:313 NIPAL4 348938 HP:0002205 Recurrent respiratory infections ORPHANET:313 NIPAL4 348938 HP:0000492 Abnormality of the eyelid ORPHANET:313 NIPAL4 348938 HP:0100758 Gangrene ORPHANET:313 NIPAL4 348938 HP:0001944 Dehydration ORPHANET:313 NIPAL4 348938 HP:0011362 Abnormal hair quantity ORPHANET:313 NIPAL4 348938 HP:0000388 Otitis media ORPHANET:313 NIPAL4 348938 HP:0008064 Ichthyosis ORPHANET:313 NIPAL4 348938 HP:0000962 Hyperkeratosis ORPHANET:313 NIPAL4 348938 HP:0000989 Pruritus ORPHANET:313 NIPAL4 348938 HP:0100679 Lack of skin elasticity ORPHANET:313 NIPAL4 348938 HP:0011039 Abnormality of the helix ORPHANET:313 NIPAL4 348938 HP:0000083 Renal insufficiency ORPHANET:313 NIPAL4 348938 HP:0000958 Dry skin ORPHANET:313 NIPAL4 348938 HP:0100543 Cognitive impairment ORPHANET:313 NIPAL4 348938 HP:0000232 Everted lower lip vermilion ORPHANET:313 NIPAL4 348938 HP:0004322 Short stature ORPHANET:313 NIPAL4 348938 HP:0000164 Abnormality of the teeth ORPHANET:313 NIPAL4 348938 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:313 ALOX12B 242 HP:0100806 Sepsis ORPHANET:313 ALOX12B 242 HP:0001597 Abnormality of the nail ORPHANET:313 ALOX12B 242 HP:0002205 Recurrent respiratory infections ORPHANET:313 ALOX12B 242 HP:0000492 Abnormality of the eyelid ORPHANET:313 ALOX12B 242 HP:0100758 Gangrene ORPHANET:313 ALOX12B 242 HP:0001944 Dehydration ORPHANET:313 ALOX12B 242 HP:0011362 Abnormal hair quantity ORPHANET:313 ALOX12B 242 HP:0000388 Otitis media ORPHANET:313 ALOX12B 242 HP:0008064 Ichthyosis ORPHANET:313 ALOX12B 242 HP:0000962 Hyperkeratosis ORPHANET:313 ALOX12B 242 HP:0000989 Pruritus ORPHANET:313 ALOX12B 242 HP:0100679 Lack of skin elasticity ORPHANET:313 ALOX12B 242 HP:0011039 Abnormality of the helix ORPHANET:313 ALOX12B 242 HP:0000083 Renal insufficiency ORPHANET:313 ALOX12B 242 HP:0000958 Dry skin ORPHANET:313 ALOX12B 242 HP:0100543 Cognitive impairment ORPHANET:313 ALOX12B 242 HP:0000232 Everted lower lip vermilion ORPHANET:313 ALOX12B 242 HP:0004322 Short stature ORPHANET:313 ALOX12B 242 HP:0000164 Abnormality of the teeth ORPHANET:313 ALOX12B 242 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:615362 CTSF 8722 HP:0000726 Dementia OMIM:615362 CTSF 8722 HP:0000007 Autosomal recessive inheritance OMIM:615362 CTSF 8722 HP:0003581 Adult onset OMIM:615362 CTSF 8722 HP:0001272 Cerebellar atrophy OMIM:615362 CTSF 8722 HP:0000712 Emotional lability OMIM:615362 CTSF 8722 HP:0003676 Progressive disorder OMIM:615362 CTSF 8722 HP:0001260 Dysarthria OMIM:615362 CTSF 8722 HP:0002071 Abnormality of extrapyramidal motor function OMIM:615362 CTSF 8722 HP:0001251 Ataxia OMIM:615362 CTSF 8722 HP:0002506 Diffuse cerebral atrophy OMIM:615362 CTSF 8722 HP:0001337 Tremor OMIM:615362 CTSF 8722 HP:0001250 Seizures ORPHANET:2623 FBN1 2200 HP:0001631 Defect in the atrial septum ORPHANET:2623 FBN1 2200 HP:0001702 Abnormality of the tricuspid valve ORPHANET:2623 FBN1 2200 HP:0001608 Abnormality of the voice ORPHANET:2623 FBN1 2200 HP:0100543 Cognitive impairment ORPHANET:2623 FBN1 2200 HP:0001156 Brachydactyly syndrome ORPHANET:2623 FBN1 2200 HP:0100830 Round ear ORPHANET:2623 FBN1 2200 HP:0003196 Short nose ORPHANET:2623 FBN1 2200 HP:0001600 Abnormality of the larynx ORPHANET:2623 FBN1 2200 HP:0002750 Delayed skeletal maturation ORPHANET:2623 FBN1 2200 HP:0010579 Cone-shaped epiphysis ORPHANET:2623 FBN1 2200 HP:0000311 Round face ORPHANET:2623 FBN1 2200 HP:0001511 Intrauterine growth retardation ORPHANET:2623 FBN1 2200 HP:0000388 Otitis media ORPHANET:2623 FBN1 2200 HP:0000233 Thin vermilion border ORPHANET:2623 FBN1 2200 HP:0000463 Anteverted nares ORPHANET:2623 FBN1 2200 HP:0002092 Pulmonary hypertension ORPHANET:2623 FBN1 2200 HP:0002777 Tracheal stenosis ORPHANET:2623 FBN1 2200 HP:0001163 Abnormality of the metacarpal bones ORPHANET:2623 FBN1 2200 HP:0001646 Abnormality of the aortic valve ORPHANET:2623 FBN1 2200 HP:0002823 Abnormality of the femur ORPHANET:2623 FBN1 2200 HP:0000316 Hypertelorism ORPHANET:2623 FBN1 2200 HP:0001376 Limitation of joint mobility ORPHANET:2623 FBN1 2200 HP:0000293 Full cheeks ORPHANET:2623 FBN1 2200 HP:0004322 Short stature ORPHANET:2623 FBN1 2200 HP:0002983 Micromelia ORPHANET:2623 FBN1 2200 HP:0000581 Blepharophimosis ORPHANET:2623 FBN1 2200 HP:0002205 Recurrent respiratory infections ORPHANET:2623 FBN1 2200 HP:0001072 Thickened skin ORPHANET:2623 FBN1 2200 HP:0002104 Apnea ORPHANET:2623 FBN1 2200 HP:0001831 Short toe ORPHANET:2623 FBN1 2200 HP:0002093 Respiratory insufficiency ORPHANET:2623 FBN1 2200 HP:0000343 Long philtrum ORPHANET:2623 FBN1 2200 HP:0001718 Mitral stenosis ORPHANET:2623 FBN1 2200 HP:0002240 Hepatomegaly ORPHANET:2623 FBN1 2200 HP:0000926 Platyspondyly ORPHANET:2623 FBN1 2200 HP:0000365 Hearing impairment ORPHANET:2623 ADAMTSL2 9719 HP:0001631 Defect in the atrial septum ORPHANET:2623 ADAMTSL2 9719 HP:0001702 Abnormality of the tricuspid valve ORPHANET:2623 ADAMTSL2 9719 HP:0001608 Abnormality of the voice ORPHANET:2623 ADAMTSL2 9719 HP:0100543 Cognitive impairment ORPHANET:2623 ADAMTSL2 9719 HP:0001156 Brachydactyly syndrome ORPHANET:2623 ADAMTSL2 9719 HP:0100830 Round ear ORPHANET:2623 ADAMTSL2 9719 HP:0003196 Short nose ORPHANET:2623 ADAMTSL2 9719 HP:0001600 Abnormality of the larynx ORPHANET:2623 ADAMTSL2 9719 HP:0002750 Delayed skeletal maturation ORPHANET:2623 ADAMTSL2 9719 HP:0010579 Cone-shaped epiphysis ORPHANET:2623 ADAMTSL2 9719 HP:0000311 Round face ORPHANET:2623 ADAMTSL2 9719 HP:0001511 Intrauterine growth retardation ORPHANET:2623 ADAMTSL2 9719 HP:0000388 Otitis media ORPHANET:2623 ADAMTSL2 9719 HP:0000233 Thin vermilion border ORPHANET:2623 ADAMTSL2 9719 HP:0000463 Anteverted nares ORPHANET:2623 ADAMTSL2 9719 HP:0002092 Pulmonary hypertension ORPHANET:2623 ADAMTSL2 9719 HP:0002777 Tracheal stenosis ORPHANET:2623 ADAMTSL2 9719 HP:0001163 Abnormality of the metacarpal bones ORPHANET:2623 ADAMTSL2 9719 HP:0001646 Abnormality of the aortic valve ORPHANET:2623 ADAMTSL2 9719 HP:0002823 Abnormality of the femur ORPHANET:2623 ADAMTSL2 9719 HP:0000316 Hypertelorism ORPHANET:2623 ADAMTSL2 9719 HP:0001376 Limitation of joint mobility ORPHANET:2623 ADAMTSL2 9719 HP:0000293 Full cheeks ORPHANET:2623 ADAMTSL2 9719 HP:0004322 Short stature ORPHANET:2623 ADAMTSL2 9719 HP:0002983 Micromelia ORPHANET:2623 ADAMTSL2 9719 HP:0000581 Blepharophimosis ORPHANET:2623 ADAMTSL2 9719 HP:0002205 Recurrent respiratory infections ORPHANET:2623 ADAMTSL2 9719 HP:0001072 Thickened skin ORPHANET:2623 ADAMTSL2 9719 HP:0002104 Apnea ORPHANET:2623 ADAMTSL2 9719 HP:0001831 Short toe ORPHANET:2623 ADAMTSL2 9719 HP:0002093 Respiratory insufficiency ORPHANET:2623 ADAMTSL2 9719 HP:0000343 Long philtrum ORPHANET:2623 ADAMTSL2 9719 HP:0001718 Mitral stenosis ORPHANET:2623 ADAMTSL2 9719 HP:0002240 Hepatomegaly ORPHANET:2623 ADAMTSL2 9719 HP:0000926 Platyspondyly ORPHANET:2623 ADAMTSL2 9719 HP:0000365 Hearing impairment OMIM:615988 TRIM32 22954 HP:0010442 Polydactyly OMIM:615988 TRIM32 22954 HP:0001513 Obesity OMIM:615988 TRIM32 22954 HP:0000488 Retinopathy OMIM:615988 TRIM32 22954 HP:0000077 Abnormality of the kidney OMIM:615988 TRIM32 22954 HP:0000135 Hypogonadism OMIM:168400 TRPV4 59341 HP:0100670 Rough bone trabeculation OMIM:168400 TRPV4 59341 HP:0001376 Limitation of joint mobility OMIM:168400 TRPV4 59341 HP:0100569 Abnormal vertebral ossification OMIM:168400 TRPV4 59341 HP:0003510 Severe short stature OMIM:168400 TRPV4 59341 HP:0000006 Autosomal dominant inheritance OMIM:168400 TRPV4 59341 HP:0002808 Kyphosis OMIM:168400 TRPV4 59341 HP:0001371 Flexion contracture OMIM:168400 TRPV4 59341 HP:0000926 Platyspondyly OMIM:168400 TRPV4 59341 HP:0000470 Short neck OMIM:168400 TRPV4 59341 HP:0002857 Genu valgum OMIM:168400 TRPV4 59341 HP:0000772 Abnormality of the ribs OMIM:168400 TRPV4 59341 HP:0004349 Reduced bone mineral density OMIM:168400 TRPV4 59341 HP:0005930 Abnormality of epiphysis morphology OMIM:168400 TRPV4 59341 HP:0002970 Genu varum OMIM:168400 TRPV4 59341 HP:0002650 Scoliosis OMIM:168400 TRPV4 59341 HP:0001831 Short toe OMIM:168400 TRPV4 59341 HP:0000348 High forehead OMIM:168400 TRPV4 59341 HP:0001156 Brachydactyly syndrome OMIM:168400 TRPV4 59341 HP:0000768 Pectus carinatum OMIM:168400 TRPV4 59341 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:168400 TRPV4 59341 HP:0000944 Abnormality of the metaphyses OMIM:168400 TRPV4 59341 HP:0100559 Lower limb asymmetry OMIM:168400 TRPV4 59341 HP:0001288 Gait disturbance OMIM:168400 TRPV4 59341 HP:0002007 Frontal bossing OMIM:115195 TNNT2 7139 HP:0001639 Hypertrophic cardiomyopathy OMIM:115195 TNNT2 7139 HP:0000006 Autosomal dominant inheritance OMIM:601606 CYLD 1540 HP:0003581 Adult onset OMIM:601606 CYLD 1540 HP:0002671 Basal cell carcinoma OMIM:601606 CYLD 1540 HP:0000006 Autosomal dominant inheritance OMIM:176450 MNX1 3110 HP:0001153 Septate vagina OMIM:176450 MNX1 3110 HP:0000011 Neurogenic bladder OMIM:176450 MNX1 3110 HP:0000006 Autosomal dominant inheritance OMIM:176450 MNX1 3110 HP:0000020 Urinary incontinence OMIM:176450 MNX1 3110 HP:0009789 Perianal abscess OMIM:176450 MNX1 3110 HP:0004796 Gastrointestinal obstruction OMIM:176450 MNX1 3110 HP:0009790 Hemisacrum (S2-S5) OMIM:176450 MNX1 3110 HP:0000085 Horseshoe kidney OMIM:176450 MNX1 3110 HP:0009793 Presacral teratoma OMIM:176450 MNX1 3110 HP:0000076 Vesicoureteral reflux OMIM:176450 MNX1 3110 HP:0002025 Anal stenosis OMIM:176450 MNX1 3110 HP:0100627 Displacement of the external urethral meatus OMIM:176450 MNX1 3110 HP:0000048 Bifid scrotum OMIM:176450 MNX1 3110 HP:0008736 Hypoplasia of penis OMIM:176450 MNX1 3110 HP:0002023 Anal atresia OMIM:176450 MNX1 3110 HP:0007293 Anterior sacral meningocele OMIM:176450 MNX1 3110 HP:0000143 Rectovaginal fistula OMIM:176450 MNX1 3110 HP:0002144 Tethered cord OMIM:176450 MNX1 3110 HP:0008517 Aplasia/Hypoplasia of the sacrum OMIM:176450 MNX1 3110 HP:0100026 Arteriovenous malformation OMIM:176450 MNX1 3110 HP:0003270 Abdominal distention OMIM:176450 MNX1 3110 HP:0010447 Anal fistula OMIM:176450 MNX1 3110 HP:0009791 Bifid sacrum OMIM:176450 MNX1 3110 HP:0012450 Chronic constipation OMIM:176450 MNX1 3110 HP:0000813 Bicornuate uterus OMIM:176450 MNX1 3110 HP:0000010 Recurrent urinary tract infections OMIM:176450 MNX1 3110 HP:0000037 Male pseudohermaphroditism OMIM:176450 MNX1 3110 HP:0001263 Global developmental delay OMIM:176450 MNX1 3110 HP:0003829 Incomplete penetrance OMIM:176450 MNX1 3110 HP:0100559 Lower limb asymmetry OMIM:144010 APOB 338 HP:0003124 Hypercholesterolemia OMIM:144010 APOB 338 HP:0001084 Corneal arcus OMIM:144010 APOB 338 HP:0000006 Autosomal dominant inheritance OMIM:144010 APOB 338 HP:0001114 Xanthelasma OMIM:144010 APOB 338 HP:0001677 Coronary artery disease OMIM:164280 MYCN 4613 HP:0000232 Everted lower lip vermilion OMIM:164280 MYCN 4613 HP:0000582 Upslanted palpebral fissure OMIM:164280 MYCN 4613 HP:0002032 Esophageal atresia OMIM:164280 MYCN 4613 HP:0000347 Micrognathia OMIM:164280 MYCN 4613 HP:0000437 Depressed nasal tip OMIM:164280 MYCN 4613 HP:0001249 Intellectual disability OMIM:164280 MYCN 4613 HP:0001831 Short toe OMIM:164280 MYCN 4613 HP:0000252 Microcephaly OMIM:164280 MYCN 4613 HP:0000581 Blepharophimosis OMIM:164280 MYCN 4613 HP:0009161 Aplasia/Hypoplasia of the middle phalanx of the 5th finger OMIM:164280 MYCN 4613 HP:0001561 Polyhydramnios OMIM:164280 MYCN 4613 HP:0000325 Triangular face OMIM:164280 MYCN 4613 HP:0001605 Vocal cord paralysis OMIM:164280 MYCN 4613 HP:0001748 Polysplenia OMIM:164280 MYCN 4613 HP:0000431 Wide nasal bridge OMIM:164280 MYCN 4613 HP:0001328 Specific learning disability OMIM:164280 MYCN 4613 HP:0002247 Duodenal atresia OMIM:164280 MYCN 4613 HP:0000269 Prominent occiput OMIM:164280 MYCN 4613 HP:0000365 Hearing impairment OMIM:164280 MYCN 4613 HP:0000358 Posteriorly rotated ears OMIM:164280 MYCN 4613 HP:0009568 Aplasia/Hypoplasia of the middle phalanx of the 2nd finger OMIM:164280 MYCN 4613 HP:0001746 Asplenia OMIM:164280 MYCN 4613 HP:0001747 Accessory spleen OMIM:164280 MYCN 4613 HP:0000218 High palate OMIM:164280 MYCN 4613 HP:0000237 Small anterior fontanelle OMIM:164280 MYCN 4613 HP:0000369 Low-set ears OMIM:164280 MYCN 4613 HP:0000463 Anteverted nares OMIM:164280 MYCN 4613 HP:0000324 Facial asymmetry OMIM:164280 MYCN 4613 HP:0012471 Thick vermilion border OMIM:164280 MYCN 4613 HP:0004691 2-3 toe syndactyly OMIM:164280 MYCN 4613 HP:0004692 4-5 toe syndactyly OMIM:164280 MYCN 4613 HP:0002575 Tracheoesophageal fistula OMIM:164280 MYCN 4613 HP:0001643 Patent ductus arteriosus OMIM:164280 MYCN 4613 HP:0001734 Annular pancreas OMIM:164280 MYCN 4613 HP:0000006 Autosomal dominant inheritance OMIM:164280 MYCN 4613 HP:0012745 Short palpebral fissure OMIM:164280 MYCN 4613 HP:0000286 Epicanthus OMIM:164280 MYCN 4613 HP:0001558 Decreased fetal movement OMIM:609646 ILDR1 286676 HP:0000007 Autosomal recessive inheritance OMIM:609646 ILDR1 286676 HP:0003593 Infantile onset OMIM:609646 ILDR1 286676 HP:0000407 Sensorineural hearing impairment OMIM:609646 ILDR1 286676 HP:0003680 Nonprogressive disorder OMIM:250850 MAT1A 4143 HP:0007305 CNS demyelination OMIM:250850 MAT1A 4143 HP:0003235 Hypermethioninemia OMIM:250850 MAT1A 4143 HP:0001249 Intellectual disability OMIM:250850 MAT1A 4143 HP:0001347 Hyperreflexia OMIM:250850 MAT1A 4143 HP:0000007 Autosomal recessive inheritance OMIM:250850 MAT1A 4143 HP:0000006 Autosomal dominant inheritance OMIM:250850 MAT1A 4143 HP:0001332 Dystonia OMIM:250850 MAT1A 4143 HP:0011096 Peripheral demyelination ORPHANET:1215 OPA1 4976 HP:0000551 Abnormality of color vision ORPHANET:1215 OPA1 4976 HP:0000648 Optic atrophy ORPHANET:1215 OPA1 4976 HP:0007328 Impaired pain sensation ORPHANET:1215 OPA1 4976 HP:0000407 Sensorineural hearing impairment ORPHANET:1215 OPA1 4976 HP:0001315 Reduced tendon reflexes ORPHANET:1215 OPA1 4976 HP:0000505 Visual impairment ORPHANET:1215 OPA1 4976 HP:0000649 Abnormality of vision evoked potentials ORPHANET:1215 OPA1 4976 HP:0000486 Strabismus ORPHANET:1215 OPA1 4976 HP:0000762 Decreased nerve conduction velocity OMIM:109560 BCL3 602 HP:0005550 Chronic lymphatic leukemia OMIM:109560 BCL3 602 HP:0002665 Lymphoma OMIM:606762 GLUD1 2746 HP:0001249 Intellectual disability OMIM:606762 GLUD1 2746 HP:0000825 Hyperinsulinemic hypoglycemia OMIM:606762 GLUD1 2746 HP:0002173 Hypoglycemic seizures OMIM:606762 GLUD1 2746 HP:0000006 Autosomal dominant inheritance OMIM:606762 GLUD1 2746 HP:0008162 Asymptomatic hyperammonemia OMIM:606762 GLUD1 2746 HP:0001325 Hypoglycemic coma OMIM:616202 BRF1 2972 HP:0000689 Dental malocclusion OMIM:616202 BRF1 2972 HP:0001182 Tapered finger OMIM:616202 BRF1 2972 HP:0012110 Hypoplasia of the pons OMIM:616202 BRF1 2972 HP:0008070 Sparse hair OMIM:616202 BRF1 2972 HP:0006511 Laryngeal stridor OMIM:616202 BRF1 2972 HP:0002650 Scoliosis OMIM:616202 BRF1 2972 HP:0004322 Short stature OMIM:616202 BRF1 2972 HP:0000252 Microcephaly OMIM:616202 BRF1 2972 HP:0003100 Slender long bone OMIM:616202 BRF1 2972 HP:0000369 Low-set ears OMIM:616202 BRF1 2972 HP:0001321 Cerebellar hypoplasia OMIM:616202 BRF1 2972 HP:0000675 Macrodontia of permanent maxillary central incisor OMIM:616202 BRF1 2972 HP:0000535 Sparse eyebrow OMIM:616202 BRF1 2972 HP:0001263 Global developmental delay OMIM:616202 BRF1 2972 HP:0000470 Short neck OMIM:616202 BRF1 2972 HP:0000679 Taurodontia OMIM:616202 BRF1 2972 HP:0001249 Intellectual disability OMIM:616202 BRF1 2972 HP:0001601 Laryngomalacia OMIM:614050 ABCC9 10060 HP:0000006 Autosomal dominant inheritance OMIM:614050 ABCC9 10060 HP:0004757 Paroxysmal atrial fibrillation OMIM:142946 TGIF1 7050 HP:0000006 Autosomal dominant inheritance OMIM:142946 TGIF1 7050 HP:0008501 Median cleft lip and palate OMIM:142946 TGIF1 7050 HP:0000508 Ptosis OMIM:142946 TGIF1 7050 HP:0005280 Depressed nasal bridge OMIM:142946 TGIF1 7050 HP:0005273 Absent nasal septal cartilage OMIM:142946 TGIF1 7050 HP:0000601 Hypotelorism OMIM:142946 TGIF1 7050 HP:0002507 Semilobar holoprosencephaly OMIM:142946 TGIF1 7050 HP:0000161 Median cleft lip OMIM:142946 TGIF1 7050 HP:0000437 Depressed nasal tip OMIM:231095 TBXAS1 6916 HP:0003812 Phenotypic variability OMIM:231095 TBXAS1 6916 HP:0000007 Autosomal recessive inheritance OMIM:231095 TBXAS1 6916 HP:0100252 Diaphyseal dysplasia OMIM:231095 TBXAS1 6916 HP:0002823 Abnormality of the femur OMIM:231095 TBXAS1 6916 HP:0002992 Abnormality of the tibia OMIM:231095 TBXAS1 6916 HP:0004493 Craniofacial hyperostosis OMIM:231095 TBXAS1 6916 HP:0001744 Splenomegaly OMIM:231095 TBXAS1 6916 HP:0011001 Increased bone mineral density OMIM:231095 TBXAS1 6916 HP:0005890 Hyperostosis cranialis interna OMIM:231095 TBXAS1 6916 HP:0001882 Leukopenia OMIM:231095 TBXAS1 6916 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:231095 TBXAS1 6916 HP:0003312 Abnormal form of the vertebral bodies OMIM:231095 TBXAS1 6916 HP:0006487 Bowing of the long bones OMIM:231095 TBXAS1 6916 HP:0005505 Refractory anemia OMIM:231095 TBXAS1 6916 HP:0000944 Abnormality of the metaphyses OMIM:231095 TBXAS1 6916 HP:0001873 Thrombocytopenia OMIM:231095 TBXAS1 6916 HP:0003103 Abnormal cortical bone morphology OMIM:231095 TBXAS1 6916 HP:0010978 Abnormality of immune system physiology OMIM:231095 TBXAS1 6916 HP:0005528 Bone marrow hypocellularity OMIM:231095 TBXAS1 6916 HP:0011974 Myelofibrosis OMIM:231095 TBXAS1 6916 HP:0002167 Neurological speech impairment OMIM:613011 ITK 3702 HP:0001873 Thrombocytopenia OMIM:613011 ITK 3702 HP:0002960 Autoimmunity OMIM:613011 ITK 3702 HP:0002719 Recurrent infections OMIM:613011 ITK 3702 HP:0004315 IgG deficiency OMIM:613011 ITK 3702 HP:0001903 Anemia OMIM:613011 ITK 3702 HP:0001744 Splenomegaly OMIM:613011 ITK 3702 HP:0003621 Juvenile onset OMIM:613011 ITK 3702 HP:0002665 Lymphoma OMIM:613011 ITK 3702 HP:0011107 Recurrent aphthous stomatitis OMIM:613011 ITK 3702 HP:0002240 Hepatomegaly OMIM:613011 ITK 3702 HP:0001876 Pancytopenia OMIM:613011 ITK 3702 HP:0002716 Lymphadenopathy OMIM:613011 ITK 3702 HP:0003565 Elevated erythrocyte sedimentation rate OMIM:613011 ITK 3702 HP:0000007 Autosomal recessive inheritance OMIM:616081 EXOSC8 11340 HP:0002120 Cerebral cortical atrophy OMIM:616081 EXOSC8 11340 HP:0007269 Spinal muscular atrophy OMIM:616081 EXOSC8 11340 HP:0001371 Flexion contracture OMIM:616081 EXOSC8 11340 HP:0002079 Hypoplasia of the corpus callosum OMIM:616081 EXOSC8 11340 HP:0001324 Muscle weakness OMIM:616081 EXOSC8 11340 HP:0001263 Global developmental delay OMIM:616081 EXOSC8 11340 HP:0001320 Cerebellar vermis hypoplasia OMIM:616081 EXOSC8 11340 HP:0000365 Hearing impairment OMIM:616081 EXOSC8 11340 HP:0011968 Feeding difficulties OMIM:616081 EXOSC8 11340 HP:0001285 Spastic tetraparesis OMIM:616081 EXOSC8 11340 HP:0000505 Visual impairment OMIM:616081 EXOSC8 11340 HP:0002878 Respiratory failure OMIM:616081 EXOSC8 11340 HP:0001508 Failure to thrive OMIM:613796 STAT1 6772 HP:0000007 Autosomal recessive inheritance OMIM:613796 STAT1 6772 HP:0012302 Herpes simplex encephalitis OMIM:613796 STAT1 6772 HP:0011274 Recurrent mycobacterial infections OMIM:608389 SIX1 6495 HP:0000407 Sensorineural hearing impairment OMIM:608389 SIX1 6495 HP:0000006 Autosomal dominant inheritance OMIM:608389 SIX1 6495 HP:0004467 Preauricular pit OMIM:608389 SIX1 6495 HP:0002710 Commissural lip pit OMIM:610832 PALB2 79728 HP:0000252 Microcephaly OMIM:610832 PALB2 79728 HP:0009778 Short thumb OMIM:610832 PALB2 79728 HP:0002667 Nephroblastoma (Wilms tumor) OMIM:610832 PALB2 79728 HP:0003006 Neuroblastoma OMIM:610832 PALB2 79728 HP:0008897 Postnatal growth retardation OMIM:610832 PALB2 79728 HP:0002885 Medulloblastoma OMIM:610832 PALB2 79728 HP:0001915 Aplastic anemia OMIM:610832 PALB2 79728 HP:0001629 Ventricular septal defect OMIM:610832 PALB2 79728 HP:0000007 Autosomal recessive inheritance OMIM:610832 PALB2 79728 HP:0000470 Short neck OMIM:610832 PALB2 79728 HP:0000316 Hypertelorism OMIM:610832 PALB2 79728 HP:0000286 Epicanthus OMIM:610832 PALB2 79728 HP:0000957 Cafe-au-lait spot OMIM:610832 PALB2 79728 HP:0003221 Chromosomal breakage induced by crosslinking agents OMIM:613073 MMP9 4318 HP:0100864 Short femoral neck OMIM:613073 MMP9 4318 HP:0003016 Metaphyseal widening OMIM:613073 MMP9 4318 HP:0002979 Bowing of the legs OMIM:613073 MMP9 4318 HP:0000007 Autosomal recessive inheritance OMIM:613073 MMP9 4318 HP:0003025 Metaphyseal irregularity OMIM:609006 ESPN 83715 HP:0008568 Vestibular areflexia OMIM:609006 ESPN 83715 HP:0000407 Sensorineural hearing impairment OMIM:609006 ESPN 83715 HP:0000007 Autosomal recessive inheritance OMIM:313400 TRAPPC2 6399 HP:0000926 Platyspondyly OMIM:313400 TRAPPC2 6399 HP:0002866 Hypoplastic iliac wing OMIM:313400 TRAPPC2 6399 HP:0002938 Lumbar hyperlordosis OMIM:313400 TRAPPC2 6399 HP:0003521 Disproportionate short-trunk short stature OMIM:313400 TRAPPC2 6399 HP:0001376 Limitation of joint mobility OMIM:313400 TRAPPC2 6399 HP:0010582 Irregular epiphyses OMIM:313400 TRAPPC2 6399 HP:0004594 Hump-shaped mound of bone in central and posterior portions of vertebral endplate OMIM:313400 TRAPPC2 6399 HP:0000470 Short neck OMIM:313400 TRAPPC2 6399 HP:0002655 Spondyloepiphyseal dysplasia OMIM:313400 TRAPPC2 6399 HP:0002650 Scoliosis OMIM:313400 TRAPPC2 6399 HP:0001419 X-linked recessive inheritance OMIM:313400 TRAPPC2 6399 HP:0002812 Coxa vara OMIM:313400 TRAPPC2 6399 HP:0001552 Barrel-shaped chest OMIM:313400 TRAPPC2 6399 HP:0007759 Opacification of the corneal stroma OMIM:313400 TRAPPC2 6399 HP:0003090 Hypoplasia of the capital femoral epiphysis OMIM:313400 TRAPPC2 6399 HP:0100864 Short femoral neck OMIM:313400 TRAPPC2 6399 HP:0000914 Shield chest OMIM:313400 TRAPPC2 6399 HP:0002808 Kyphosis OMIM:313400 TRAPPC2 6399 HP:0008843 Hip osteoarthritis OMIM:313400 TRAPPC2 6399 HP:0002829 Arthralgia OMIM:613156 POMT2 29954 HP:0000545 Myopia OMIM:613156 POMT2 29954 HP:0002650 Scoliosis OMIM:613156 POMT2 29954 HP:0000580 Pigmentary retinopathy OMIM:613156 POMT2 29954 HP:0001371 Flexion contracture OMIM:613156 POMT2 29954 HP:0002079 Hypoplasia of the corpus callosum OMIM:613156 POMT2 29954 HP:0002120 Cerebral cortical atrophy OMIM:613156 POMT2 29954 HP:0000054 Micropenis OMIM:613156 POMT2 29954 HP:0003307 Hyperlordosis OMIM:613156 POMT2 29954 HP:0003701 Proximal muscle weakness OMIM:613156 POMT2 29954 HP:0001249 Intellectual disability OMIM:613156 POMT2 29954 HP:0003236 Elevated serum creatine phosphokinase OMIM:613156 POMT2 29954 HP:0001252 Muscular hypotonia OMIM:613156 POMT2 29954 HP:0001265 Hyporeflexia OMIM:613156 POMT2 29954 HP:0000194 Open mouth OMIM:613156 POMT2 29954 HP:0001284 Areflexia OMIM:613156 POMT2 29954 HP:0003324 Generalized muscle weakness OMIM:613156 POMT2 29954 HP:0001270 Motor delay OMIM:613156 POMT2 29954 HP:0002093 Respiratory insufficiency OMIM:613156 POMT2 29954 HP:0000028 Cryptorchidism OMIM:613156 POMT2 29954 HP:0000486 Strabismus OMIM:613156 POMT2 29954 HP:0003741 Congenital muscular dystrophy OMIM:613156 POMT2 29954 HP:0001712 Left ventricular hypertrophy OMIM:613156 POMT2 29954 HP:0002827 Hip dislocation OMIM:613156 POMT2 29954 HP:0010628 Facial palsy OMIM:613156 POMT2 29954 HP:0002119 Ventriculomegaly OMIM:613156 POMT2 29954 HP:0000007 Autosomal recessive inheritance OMIM:613156 POMT2 29954 HP:0000252 Microcephaly OMIM:613156 POMT2 29954 HP:0000158 Macroglossia OMIM:613156 POMT2 29954 HP:0001321 Cerebellar hypoplasia OMIM:613404 VIPAS39 63894 HP:0200084 Giant cell hepatitis OMIM:613404 VIPAS39 63894 HP:0001263 Global developmental delay OMIM:613404 VIPAS39 63894 HP:0001252 Muscular hypotonia OMIM:613404 VIPAS39 63894 HP:0000340 Sloping forehead OMIM:613404 VIPAS39 63894 HP:0001884 Talipes calcaneovalgus OMIM:613404 VIPAS39 63894 HP:0008064 Ichthyosis OMIM:613404 VIPAS39 63894 HP:0001339 Lissencephaly OMIM:613404 VIPAS39 63894 HP:0009806 Nephrogenic diabetes insipidus OMIM:613404 VIPAS39 63894 HP:0001629 Ventricular septal defect OMIM:613404 VIPAS39 63894 HP:0001947 Renal tubular acidosis OMIM:613404 VIPAS39 63894 HP:0002910 Elevated hepatic transaminases OMIM:613404 VIPAS39 63894 HP:0001385 Hip dysplasia OMIM:613404 VIPAS39 63894 HP:0000252 Microcephaly OMIM:613404 VIPAS39 63894 HP:0000121 Nephrocalcinosis OMIM:613404 VIPAS39 63894 HP:0000952 Jaundice OMIM:613404 VIPAS39 63894 HP:0002611 Cholestatic liver disease OMIM:613404 VIPAS39 63894 HP:0000369 Low-set ears OMIM:613404 VIPAS39 63894 HP:0002804 Arthrogryposis multiplex congenita OMIM:613404 VIPAS39 63894 HP:0000112 Nephropathy OMIM:613404 VIPAS39 63894 HP:0002908 Conjugated hyperbilirubinemia OMIM:613404 VIPAS39 63894 HP:0001508 Failure to thrive OMIM:613404 VIPAS39 63894 HP:0001942 Metabolic acidosis OMIM:613404 VIPAS39 63894 HP:0000007 Autosomal recessive inheritance OMIM:614886 PEX19 5824 HP:0000124 Renal tubular dysfunction OMIM:614886 PEX19 5824 HP:0000325 Triangular face OMIM:614886 PEX19 5824 HP:0001081 Cholelithiasis OMIM:614886 PEX19 5824 HP:0001250 Seizures OMIM:614886 PEX19 5824 HP:0007305 CNS demyelination OMIM:614886 PEX19 5824 HP:0001476 Delayed closure of the anterior fontanelle OMIM:614886 PEX19 5824 HP:0011398 Central hypotonia OMIM:614886 PEX19 5824 HP:0000431 Wide nasal bridge OMIM:614886 PEX19 5824 HP:0002904 Hyperbilirubinemia OMIM:614886 PEX19 5824 HP:0002910 Elevated hepatic transaminases OMIM:614886 PEX19 5824 HP:0002059 Cerebral atrophy OMIM:614886 PEX19 5824 HP:0003103 Abnormal cortical bone morphology OMIM:614886 PEX19 5824 HP:0003455 Elevated long chain fatty acids OMIM:614886 PEX19 5824 HP:0000267 Cranial asymmetry OMIM:614886 PEX19 5824 HP:0009553 Abnormality of the hairline OMIM:614886 PEX19 5824 HP:0001263 Global developmental delay OMIM:614886 PEX19 5824 HP:0001510 Growth delay ORPHANET:703 HLA-DQB1 3119 HP:0008066 Abnormal blistering of the skin ORPHANET:703 HLA-DQB1 3119 HP:0001034 Hypermelanotic macule ORPHANET:703 HLA-DQB1 3119 HP:0000163 Abnormality of the oral cavity ORPHANET:703 HLA-DQB1 3119 HP:0001025 Urticaria ORPHANET:703 HLA-DQB1 3119 HP:0001824 Weight loss ORPHANET:703 HLA-DQB1 3119 HP:0002960 Autoimmunity ORPHANET:703 HLA-DQB1 3119 HP:0000964 Eczema ORPHANET:703 HLA-DQB1 3119 HP:0003765 Psoriasis ORPHANET:703 HLA-DQB1 3119 HP:0000819 Diabetes mellitus ORPHANET:703 HLA-DRB1 3123 HP:0008066 Abnormal blistering of the skin ORPHANET:703 HLA-DRB1 3123 HP:0001034 Hypermelanotic macule ORPHANET:703 HLA-DRB1 3123 HP:0000163 Abnormality of the oral cavity ORPHANET:703 HLA-DRB1 3123 HP:0001025 Urticaria ORPHANET:703 HLA-DRB1 3123 HP:0001824 Weight loss ORPHANET:703 HLA-DRB1 3123 HP:0002960 Autoimmunity ORPHANET:703 HLA-DRB1 3123 HP:0000964 Eczema ORPHANET:703 HLA-DRB1 3123 HP:0003765 Psoriasis ORPHANET:703 HLA-DRB1 3123 HP:0000819 Diabetes mellitus OMIM:184460 NOG 9241 HP:0011304 Broad thumb OMIM:184460 NOG 9241 HP:0000381 Stapes ankylosis OMIM:184460 NOG 9241 HP:0003189 Long nose OMIM:184460 NOG 9241 HP:0009882 Short distal phalanx of finger OMIM:184460 NOG 9241 HP:0000405 Conductive hearing impairment OMIM:184460 NOG 9241 HP:0001770 Toe syndactyly OMIM:184460 NOG 9241 HP:0000466 Limited neck range of motion OMIM:184460 NOG 9241 HP:0002949 Fused cervical vertebrae OMIM:184460 NOG 9241 HP:0009765 Low hanging columella OMIM:184460 NOG 9241 HP:0000006 Autosomal dominant inheritance OMIM:184460 NOG 9241 HP:0007943 Congenital stapes ankylosis OMIM:184460 NOG 9241 HP:0010055 Broad hallux OMIM:184460 NOG 9241 HP:0000540 Hypermetropia OMIM:184460 NOG 9241 HP:0000430 Underdeveloped nasal alae OMIM:184460 NOG 9241 HP:0009177 Proximal/middle symphalangism of 5th finger OMIM:613887 TDRD7 23424 HP:0000518 Cataract OMIM:613887 TDRD7 23424 HP:0000007 Autosomal recessive inheritance ORPHANET:791 LRAT 9227 HP:0001347 Hyperreflexia ORPHANET:791 LRAT 9227 HP:0100689 Decreased corneal thickness ORPHANET:791 LRAT 9227 HP:0000405 Conductive hearing impairment ORPHANET:791 LRAT 9227 HP:0100543 Cognitive impairment ORPHANET:791 LRAT 9227 HP:0000987 Atypical scarring of skin ORPHANET:791 LRAT 9227 HP:0000035 Abnormality of the testis ORPHANET:791 LRAT 9227 HP:0000648 Optic atrophy ORPHANET:791 LRAT 9227 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 LRAT 9227 HP:0000597 Ophthalmoparesis ORPHANET:791 LRAT 9227 HP:0005978 Type II diabetes mellitus ORPHANET:791 LRAT 9227 HP:0000463 Anteverted nares ORPHANET:791 LRAT 9227 HP:0000407 Sensorineural hearing impairment ORPHANET:791 LRAT 9227 HP:0001513 Obesity ORPHANET:791 LRAT 9227 HP:0000842 Hyperinsulinemia ORPHANET:791 LRAT 9227 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 LRAT 9227 HP:0000662 Night blindness ORPHANET:791 LRAT 9227 HP:0000639 Nystagmus ORPHANET:791 LRAT 9227 HP:0000431 Wide nasal bridge ORPHANET:791 LRAT 9227 HP:0000512 Abnormal electroretinogram ORPHANET:791 LRAT 9227 HP:0008736 Hypoplasia of penis ORPHANET:791 LRAT 9227 HP:0000501 Glaucoma ORPHANET:791 LRAT 9227 HP:0000518 Cataract ORPHANET:791 LRAT 9227 HP:0000613 Photophobia ORPHANET:791 LRAT 9227 HP:0000505 Visual impairment ORPHANET:791 PRCD 768206 HP:0001347 Hyperreflexia ORPHANET:791 PRCD 768206 HP:0100689 Decreased corneal thickness ORPHANET:791 PRCD 768206 HP:0000405 Conductive hearing impairment ORPHANET:791 PRCD 768206 HP:0100543 Cognitive impairment ORPHANET:791 PRCD 768206 HP:0000987 Atypical scarring of skin ORPHANET:791 PRCD 768206 HP:0000035 Abnormality of the testis ORPHANET:791 PRCD 768206 HP:0000648 Optic atrophy ORPHANET:791 PRCD 768206 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 PRCD 768206 HP:0000597 Ophthalmoparesis ORPHANET:791 PRCD 768206 HP:0005978 Type II diabetes mellitus ORPHANET:791 PRCD 768206 HP:0000463 Anteverted nares ORPHANET:791 PRCD 768206 HP:0000407 Sensorineural hearing impairment ORPHANET:791 PRCD 768206 HP:0001513 Obesity ORPHANET:791 PRCD 768206 HP:0000842 Hyperinsulinemia ORPHANET:791 PRCD 768206 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 PRCD 768206 HP:0000662 Night blindness ORPHANET:791 PRCD 768206 HP:0000639 Nystagmus ORPHANET:791 PRCD 768206 HP:0000431 Wide nasal bridge ORPHANET:791 PRCD 768206 HP:0000512 Abnormal electroretinogram ORPHANET:791 PRCD 768206 HP:0008736 Hypoplasia of penis ORPHANET:791 PRCD 768206 HP:0000501 Glaucoma ORPHANET:791 PRCD 768206 HP:0000518 Cataract ORPHANET:791 PRCD 768206 HP:0000613 Photophobia ORPHANET:791 PRCD 768206 HP:0000505 Visual impairment ORPHANET:791 NEK2 4751 HP:0001347 Hyperreflexia ORPHANET:791 NEK2 4751 HP:0100689 Decreased corneal thickness ORPHANET:791 NEK2 4751 HP:0000405 Conductive hearing impairment ORPHANET:791 NEK2 4751 HP:0100543 Cognitive impairment ORPHANET:791 NEK2 4751 HP:0000987 Atypical scarring of skin ORPHANET:791 NEK2 4751 HP:0000035 Abnormality of the testis ORPHANET:791 NEK2 4751 HP:0000648 Optic atrophy ORPHANET:791 NEK2 4751 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 NEK2 4751 HP:0000597 Ophthalmoparesis ORPHANET:791 NEK2 4751 HP:0005978 Type II diabetes mellitus ORPHANET:791 NEK2 4751 HP:0000463 Anteverted nares ORPHANET:791 NEK2 4751 HP:0000407 Sensorineural hearing impairment ORPHANET:791 NEK2 4751 HP:0001513 Obesity ORPHANET:791 NEK2 4751 HP:0000842 Hyperinsulinemia ORPHANET:791 NEK2 4751 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 NEK2 4751 HP:0000662 Night blindness ORPHANET:791 NEK2 4751 HP:0000639 Nystagmus ORPHANET:791 NEK2 4751 HP:0000431 Wide nasal bridge ORPHANET:791 NEK2 4751 HP:0000512 Abnormal electroretinogram ORPHANET:791 NEK2 4751 HP:0008736 Hypoplasia of penis ORPHANET:791 NEK2 4751 HP:0000501 Glaucoma ORPHANET:791 NEK2 4751 HP:0000518 Cataract ORPHANET:791 NEK2 4751 HP:0000613 Photophobia ORPHANET:791 NEK2 4751 HP:0000505 Visual impairment ORPHANET:791 MERTK 10461 HP:0001347 Hyperreflexia ORPHANET:791 MERTK 10461 HP:0100689 Decreased corneal thickness ORPHANET:791 MERTK 10461 HP:0000405 Conductive hearing impairment ORPHANET:791 MERTK 10461 HP:0100543 Cognitive impairment ORPHANET:791 MERTK 10461 HP:0000987 Atypical scarring of skin ORPHANET:791 MERTK 10461 HP:0000035 Abnormality of the testis ORPHANET:791 MERTK 10461 HP:0000648 Optic atrophy ORPHANET:791 MERTK 10461 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 MERTK 10461 HP:0000597 Ophthalmoparesis ORPHANET:791 MERTK 10461 HP:0005978 Type II diabetes mellitus ORPHANET:791 MERTK 10461 HP:0000463 Anteverted nares ORPHANET:791 MERTK 10461 HP:0000407 Sensorineural hearing impairment ORPHANET:791 MERTK 10461 HP:0001513 Obesity ORPHANET:791 MERTK 10461 HP:0000842 Hyperinsulinemia ORPHANET:791 MERTK 10461 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 MERTK 10461 HP:0000662 Night blindness ORPHANET:791 MERTK 10461 HP:0000639 Nystagmus ORPHANET:791 MERTK 10461 HP:0000431 Wide nasal bridge ORPHANET:791 MERTK 10461 HP:0000512 Abnormal electroretinogram ORPHANET:791 MERTK 10461 HP:0008736 Hypoplasia of penis ORPHANET:791 MERTK 10461 HP:0000501 Glaucoma ORPHANET:791 MERTK 10461 HP:0000518 Cataract ORPHANET:791 MERTK 10461 HP:0000613 Photophobia ORPHANET:791 MERTK 10461 HP:0000505 Visual impairment ORPHANET:791 RPGR 6103 HP:0001347 Hyperreflexia ORPHANET:791 RPGR 6103 HP:0100689 Decreased corneal thickness ORPHANET:791 RPGR 6103 HP:0000405 Conductive hearing impairment ORPHANET:791 RPGR 6103 HP:0100543 Cognitive impairment ORPHANET:791 RPGR 6103 HP:0000987 Atypical scarring of skin ORPHANET:791 RPGR 6103 HP:0000035 Abnormality of the testis ORPHANET:791 RPGR 6103 HP:0000648 Optic atrophy ORPHANET:791 RPGR 6103 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 RPGR 6103 HP:0000597 Ophthalmoparesis ORPHANET:791 RPGR 6103 HP:0005978 Type II diabetes mellitus ORPHANET:791 RPGR 6103 HP:0000463 Anteverted nares ORPHANET:791 RPGR 6103 HP:0000407 Sensorineural hearing impairment ORPHANET:791 RPGR 6103 HP:0001513 Obesity ORPHANET:791 RPGR 6103 HP:0000842 Hyperinsulinemia ORPHANET:791 RPGR 6103 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 RPGR 6103 HP:0000662 Night blindness ORPHANET:791 RPGR 6103 HP:0000639 Nystagmus ORPHANET:791 RPGR 6103 HP:0000431 Wide nasal bridge ORPHANET:791 RPGR 6103 HP:0000512 Abnormal electroretinogram ORPHANET:791 RPGR 6103 HP:0008736 Hypoplasia of penis ORPHANET:791 RPGR 6103 HP:0000501 Glaucoma ORPHANET:791 RPGR 6103 HP:0000518 Cataract ORPHANET:791 RPGR 6103 HP:0000613 Photophobia ORPHANET:791 RPGR 6103 HP:0000505 Visual impairment ORPHANET:791 RP2 6102 HP:0001347 Hyperreflexia ORPHANET:791 RP2 6102 HP:0100689 Decreased corneal thickness ORPHANET:791 RP2 6102 HP:0000405 Conductive hearing impairment ORPHANET:791 RP2 6102 HP:0100543 Cognitive impairment ORPHANET:791 RP2 6102 HP:0000987 Atypical scarring of skin ORPHANET:791 RP2 6102 HP:0000035 Abnormality of the testis ORPHANET:791 RP2 6102 HP:0000648 Optic atrophy ORPHANET:791 RP2 6102 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 RP2 6102 HP:0000597 Ophthalmoparesis ORPHANET:791 RP2 6102 HP:0005978 Type II diabetes mellitus ORPHANET:791 RP2 6102 HP:0000463 Anteverted nares ORPHANET:791 RP2 6102 HP:0000407 Sensorineural hearing impairment ORPHANET:791 RP2 6102 HP:0001513 Obesity ORPHANET:791 RP2 6102 HP:0000842 Hyperinsulinemia ORPHANET:791 RP2 6102 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 RP2 6102 HP:0000662 Night blindness ORPHANET:791 RP2 6102 HP:0000639 Nystagmus ORPHANET:791 RP2 6102 HP:0000431 Wide nasal bridge ORPHANET:791 RP2 6102 HP:0000512 Abnormal electroretinogram ORPHANET:791 RP2 6102 HP:0008736 Hypoplasia of penis ORPHANET:791 RP2 6102 HP:0000501 Glaucoma ORPHANET:791 RP2 6102 HP:0000518 Cataract ORPHANET:791 RP2 6102 HP:0000613 Photophobia ORPHANET:791 RP2 6102 HP:0000505 Visual impairment ORPHANET:791 RP1 6101 HP:0001347 Hyperreflexia ORPHANET:791 RP1 6101 HP:0100689 Decreased corneal thickness ORPHANET:791 RP1 6101 HP:0000405 Conductive hearing impairment ORPHANET:791 RP1 6101 HP:0100543 Cognitive impairment ORPHANET:791 RP1 6101 HP:0000987 Atypical scarring of skin ORPHANET:791 RP1 6101 HP:0000035 Abnormality of the testis ORPHANET:791 RP1 6101 HP:0000648 Optic atrophy ORPHANET:791 RP1 6101 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 RP1 6101 HP:0000597 Ophthalmoparesis ORPHANET:791 RP1 6101 HP:0005978 Type II diabetes mellitus ORPHANET:791 RP1 6101 HP:0000463 Anteverted nares ORPHANET:791 RP1 6101 HP:0000407 Sensorineural hearing impairment ORPHANET:791 RP1 6101 HP:0001513 Obesity ORPHANET:791 RP1 6101 HP:0000842 Hyperinsulinemia ORPHANET:791 RP1 6101 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 RP1 6101 HP:0000662 Night blindness ORPHANET:791 RP1 6101 HP:0000639 Nystagmus ORPHANET:791 RP1 6101 HP:0000431 Wide nasal bridge ORPHANET:791 RP1 6101 HP:0000512 Abnormal electroretinogram ORPHANET:791 RP1 6101 HP:0008736 Hypoplasia of penis ORPHANET:791 RP1 6101 HP:0000501 Glaucoma ORPHANET:791 RP1 6101 HP:0000518 Cataract ORPHANET:791 RP1 6101 HP:0000613 Photophobia ORPHANET:791 RP1 6101 HP:0000505 Visual impairment ORPHANET:791 RP9 6100 HP:0001347 Hyperreflexia ORPHANET:791 RP9 6100 HP:0100689 Decreased corneal thickness ORPHANET:791 RP9 6100 HP:0000405 Conductive hearing impairment ORPHANET:791 RP9 6100 HP:0100543 Cognitive impairment ORPHANET:791 RP9 6100 HP:0000987 Atypical scarring of skin ORPHANET:791 RP9 6100 HP:0000035 Abnormality of the testis ORPHANET:791 RP9 6100 HP:0000648 Optic atrophy ORPHANET:791 RP9 6100 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 RP9 6100 HP:0000597 Ophthalmoparesis ORPHANET:791 RP9 6100 HP:0005978 Type II diabetes mellitus ORPHANET:791 RP9 6100 HP:0000463 Anteverted nares ORPHANET:791 RP9 6100 HP:0000407 Sensorineural hearing impairment ORPHANET:791 RP9 6100 HP:0001513 Obesity ORPHANET:791 RP9 6100 HP:0000842 Hyperinsulinemia ORPHANET:791 RP9 6100 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 RP9 6100 HP:0000662 Night blindness ORPHANET:791 RP9 6100 HP:0000639 Nystagmus ORPHANET:791 RP9 6100 HP:0000431 Wide nasal bridge ORPHANET:791 RP9 6100 HP:0000512 Abnormal electroretinogram ORPHANET:791 RP9 6100 HP:0008736 Hypoplasia of penis ORPHANET:791 RP9 6100 HP:0000501 Glaucoma ORPHANET:791 RP9 6100 HP:0000518 Cataract ORPHANET:791 RP9 6100 HP:0000613 Photophobia ORPHANET:791 RP9 6100 HP:0000505 Visual impairment ORPHANET:791 PRPF6 24148 HP:0001347 Hyperreflexia ORPHANET:791 PRPF6 24148 HP:0100689 Decreased corneal thickness ORPHANET:791 PRPF6 24148 HP:0000405 Conductive hearing impairment ORPHANET:791 PRPF6 24148 HP:0100543 Cognitive impairment ORPHANET:791 PRPF6 24148 HP:0000987 Atypical scarring of skin ORPHANET:791 PRPF6 24148 HP:0000035 Abnormality of the testis ORPHANET:791 PRPF6 24148 HP:0000648 Optic atrophy ORPHANET:791 PRPF6 24148 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 PRPF6 24148 HP:0000597 Ophthalmoparesis ORPHANET:791 PRPF6 24148 HP:0005978 Type II diabetes mellitus ORPHANET:791 PRPF6 24148 HP:0000463 Anteverted nares ORPHANET:791 PRPF6 24148 HP:0000407 Sensorineural hearing impairment ORPHANET:791 PRPF6 24148 HP:0001513 Obesity ORPHANET:791 PRPF6 24148 HP:0000842 Hyperinsulinemia ORPHANET:791 PRPF6 24148 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 PRPF6 24148 HP:0000662 Night blindness ORPHANET:791 PRPF6 24148 HP:0000639 Nystagmus ORPHANET:791 PRPF6 24148 HP:0000431 Wide nasal bridge ORPHANET:791 PRPF6 24148 HP:0000512 Abnormal electroretinogram ORPHANET:791 PRPF6 24148 HP:0008736 Hypoplasia of penis ORPHANET:791 PRPF6 24148 HP:0000501 Glaucoma ORPHANET:791 PRPF6 24148 HP:0000518 Cataract ORPHANET:791 PRPF6 24148 HP:0000613 Photophobia ORPHANET:791 PRPF6 24148 HP:0000505 Visual impairment ORPHANET:791 CERKL 375298 HP:0001347 Hyperreflexia ORPHANET:791 CERKL 375298 HP:0100689 Decreased corneal thickness ORPHANET:791 CERKL 375298 HP:0000405 Conductive hearing impairment ORPHANET:791 CERKL 375298 HP:0100543 Cognitive impairment ORPHANET:791 CERKL 375298 HP:0000987 Atypical scarring of skin ORPHANET:791 CERKL 375298 HP:0000035 Abnormality of the testis ORPHANET:791 CERKL 375298 HP:0000648 Optic atrophy ORPHANET:791 CERKL 375298 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 CERKL 375298 HP:0000597 Ophthalmoparesis ORPHANET:791 CERKL 375298 HP:0005978 Type II diabetes mellitus ORPHANET:791 CERKL 375298 HP:0000463 Anteverted nares ORPHANET:791 CERKL 375298 HP:0000407 Sensorineural hearing impairment ORPHANET:791 CERKL 375298 HP:0001513 Obesity ORPHANET:791 CERKL 375298 HP:0000842 Hyperinsulinemia ORPHANET:791 CERKL 375298 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 CERKL 375298 HP:0000662 Night blindness ORPHANET:791 CERKL 375298 HP:0000639 Nystagmus ORPHANET:791 CERKL 375298 HP:0000431 Wide nasal bridge ORPHANET:791 CERKL 375298 HP:0000512 Abnormal electroretinogram ORPHANET:791 CERKL 375298 HP:0008736 Hypoplasia of penis ORPHANET:791 CERKL 375298 HP:0000501 Glaucoma ORPHANET:791 CERKL 375298 HP:0000518 Cataract ORPHANET:791 CERKL 375298 HP:0000613 Photophobia ORPHANET:791 CERKL 375298 HP:0000505 Visual impairment ORPHANET:791 ARL6 84100 HP:0001347 Hyperreflexia ORPHANET:791 ARL6 84100 HP:0100689 Decreased corneal thickness ORPHANET:791 ARL6 84100 HP:0000405 Conductive hearing impairment ORPHANET:791 ARL6 84100 HP:0100543 Cognitive impairment ORPHANET:791 ARL6 84100 HP:0000987 Atypical scarring of skin ORPHANET:791 ARL6 84100 HP:0000035 Abnormality of the testis ORPHANET:791 ARL6 84100 HP:0000648 Optic atrophy ORPHANET:791 ARL6 84100 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 ARL6 84100 HP:0000597 Ophthalmoparesis ORPHANET:791 ARL6 84100 HP:0005978 Type II diabetes mellitus ORPHANET:791 ARL6 84100 HP:0000463 Anteverted nares ORPHANET:791 ARL6 84100 HP:0000407 Sensorineural hearing impairment ORPHANET:791 ARL6 84100 HP:0001513 Obesity ORPHANET:791 ARL6 84100 HP:0000842 Hyperinsulinemia ORPHANET:791 ARL6 84100 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 ARL6 84100 HP:0000662 Night blindness ORPHANET:791 ARL6 84100 HP:0000639 Nystagmus ORPHANET:791 ARL6 84100 HP:0000431 Wide nasal bridge ORPHANET:791 ARL6 84100 HP:0000512 Abnormal electroretinogram ORPHANET:791 ARL6 84100 HP:0008736 Hypoplasia of penis ORPHANET:791 ARL6 84100 HP:0000501 Glaucoma ORPHANET:791 ARL6 84100 HP:0000518 Cataract ORPHANET:791 ARL6 84100 HP:0000613 Photophobia ORPHANET:791 ARL6 84100 HP:0000505 Visual impairment ORPHANET:791 TULP1 7287 HP:0001347 Hyperreflexia ORPHANET:791 TULP1 7287 HP:0100689 Decreased corneal thickness ORPHANET:791 TULP1 7287 HP:0000405 Conductive hearing impairment ORPHANET:791 TULP1 7287 HP:0100543 Cognitive impairment ORPHANET:791 TULP1 7287 HP:0000987 Atypical scarring of skin ORPHANET:791 TULP1 7287 HP:0000035 Abnormality of the testis ORPHANET:791 TULP1 7287 HP:0000648 Optic atrophy ORPHANET:791 TULP1 7287 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 TULP1 7287 HP:0000597 Ophthalmoparesis ORPHANET:791 TULP1 7287 HP:0005978 Type II diabetes mellitus ORPHANET:791 TULP1 7287 HP:0000463 Anteverted nares ORPHANET:791 TULP1 7287 HP:0000407 Sensorineural hearing impairment ORPHANET:791 TULP1 7287 HP:0001513 Obesity ORPHANET:791 TULP1 7287 HP:0000842 Hyperinsulinemia ORPHANET:791 TULP1 7287 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 TULP1 7287 HP:0000662 Night blindness ORPHANET:791 TULP1 7287 HP:0000639 Nystagmus ORPHANET:791 TULP1 7287 HP:0000431 Wide nasal bridge ORPHANET:791 TULP1 7287 HP:0000512 Abnormal electroretinogram ORPHANET:791 TULP1 7287 HP:0008736 Hypoplasia of penis ORPHANET:791 TULP1 7287 HP:0000501 Glaucoma ORPHANET:791 TULP1 7287 HP:0000518 Cataract ORPHANET:791 TULP1 7287 HP:0000613 Photophobia ORPHANET:791 TULP1 7287 HP:0000505 Visual impairment ORPHANET:791 SEMA4A 64218 HP:0001347 Hyperreflexia ORPHANET:791 SEMA4A 64218 HP:0100689 Decreased corneal thickness ORPHANET:791 SEMA4A 64218 HP:0000405 Conductive hearing impairment ORPHANET:791 SEMA4A 64218 HP:0100543 Cognitive impairment ORPHANET:791 SEMA4A 64218 HP:0000987 Atypical scarring of skin ORPHANET:791 SEMA4A 64218 HP:0000035 Abnormality of the testis ORPHANET:791 SEMA4A 64218 HP:0000648 Optic atrophy ORPHANET:791 SEMA4A 64218 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 SEMA4A 64218 HP:0000597 Ophthalmoparesis ORPHANET:791 SEMA4A 64218 HP:0005978 Type II diabetes mellitus ORPHANET:791 SEMA4A 64218 HP:0000463 Anteverted nares ORPHANET:791 SEMA4A 64218 HP:0000407 Sensorineural hearing impairment ORPHANET:791 SEMA4A 64218 HP:0001513 Obesity ORPHANET:791 SEMA4A 64218 HP:0000842 Hyperinsulinemia ORPHANET:791 SEMA4A 64218 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 SEMA4A 64218 HP:0000662 Night blindness ORPHANET:791 SEMA4A 64218 HP:0000639 Nystagmus ORPHANET:791 SEMA4A 64218 HP:0000431 Wide nasal bridge ORPHANET:791 SEMA4A 64218 HP:0000512 Abnormal electroretinogram ORPHANET:791 SEMA4A 64218 HP:0008736 Hypoplasia of penis ORPHANET:791 SEMA4A 64218 HP:0000501 Glaucoma ORPHANET:791 SEMA4A 64218 HP:0000518 Cataract ORPHANET:791 SEMA4A 64218 HP:0000613 Photophobia ORPHANET:791 SEMA4A 64218 HP:0000505 Visual impairment ORPHANET:791 GUCA1B 2979 HP:0001347 Hyperreflexia ORPHANET:791 GUCA1B 2979 HP:0100689 Decreased corneal thickness ORPHANET:791 GUCA1B 2979 HP:0000405 Conductive hearing impairment ORPHANET:791 GUCA1B 2979 HP:0100543 Cognitive impairment ORPHANET:791 GUCA1B 2979 HP:0000987 Atypical scarring of skin ORPHANET:791 GUCA1B 2979 HP:0000035 Abnormality of the testis ORPHANET:791 GUCA1B 2979 HP:0000648 Optic atrophy ORPHANET:791 GUCA1B 2979 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 GUCA1B 2979 HP:0000597 Ophthalmoparesis ORPHANET:791 GUCA1B 2979 HP:0005978 Type II diabetes mellitus ORPHANET:791 GUCA1B 2979 HP:0000463 Anteverted nares ORPHANET:791 GUCA1B 2979 HP:0000407 Sensorineural hearing impairment ORPHANET:791 GUCA1B 2979 HP:0001513 Obesity ORPHANET:791 GUCA1B 2979 HP:0000842 Hyperinsulinemia ORPHANET:791 GUCA1B 2979 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 GUCA1B 2979 HP:0000662 Night blindness ORPHANET:791 GUCA1B 2979 HP:0000639 Nystagmus ORPHANET:791 GUCA1B 2979 HP:0000431 Wide nasal bridge ORPHANET:791 GUCA1B 2979 HP:0000512 Abnormal electroretinogram ORPHANET:791 GUCA1B 2979 HP:0008736 Hypoplasia of penis ORPHANET:791 GUCA1B 2979 HP:0000501 Glaucoma ORPHANET:791 GUCA1B 2979 HP:0000518 Cataract ORPHANET:791 GUCA1B 2979 HP:0000613 Photophobia ORPHANET:791 GUCA1B 2979 HP:0000505 Visual impairment ORPHANET:791 USH2A 7399 HP:0001347 Hyperreflexia ORPHANET:791 USH2A 7399 HP:0100689 Decreased corneal thickness ORPHANET:791 USH2A 7399 HP:0000405 Conductive hearing impairment ORPHANET:791 USH2A 7399 HP:0100543 Cognitive impairment ORPHANET:791 USH2A 7399 HP:0000987 Atypical scarring of skin ORPHANET:791 USH2A 7399 HP:0000035 Abnormality of the testis ORPHANET:791 USH2A 7399 HP:0000648 Optic atrophy ORPHANET:791 USH2A 7399 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 USH2A 7399 HP:0000597 Ophthalmoparesis ORPHANET:791 USH2A 7399 HP:0005978 Type II diabetes mellitus ORPHANET:791 USH2A 7399 HP:0000463 Anteverted nares ORPHANET:791 USH2A 7399 HP:0000407 Sensorineural hearing impairment ORPHANET:791 USH2A 7399 HP:0001513 Obesity ORPHANET:791 USH2A 7399 HP:0000842 Hyperinsulinemia ORPHANET:791 USH2A 7399 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 USH2A 7399 HP:0000662 Night blindness ORPHANET:791 USH2A 7399 HP:0000639 Nystagmus ORPHANET:791 USH2A 7399 HP:0000431 Wide nasal bridge ORPHANET:791 USH2A 7399 HP:0000512 Abnormal electroretinogram ORPHANET:791 USH2A 7399 HP:0008736 Hypoplasia of penis ORPHANET:791 USH2A 7399 HP:0000501 Glaucoma ORPHANET:791 USH2A 7399 HP:0000518 Cataract ORPHANET:791 USH2A 7399 HP:0000613 Photophobia ORPHANET:791 USH2A 7399 HP:0000505 Visual impairment ORPHANET:791 PRPH2 5961 HP:0001347 Hyperreflexia ORPHANET:791 PRPH2 5961 HP:0100689 Decreased corneal thickness ORPHANET:791 PRPH2 5961 HP:0000405 Conductive hearing impairment ORPHANET:791 PRPH2 5961 HP:0100543 Cognitive impairment ORPHANET:791 PRPH2 5961 HP:0000987 Atypical scarring of skin ORPHANET:791 PRPH2 5961 HP:0000035 Abnormality of the testis ORPHANET:791 PRPH2 5961 HP:0000648 Optic atrophy ORPHANET:791 PRPH2 5961 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 PRPH2 5961 HP:0000597 Ophthalmoparesis ORPHANET:791 PRPH2 5961 HP:0005978 Type II diabetes mellitus ORPHANET:791 PRPH2 5961 HP:0000463 Anteverted nares ORPHANET:791 PRPH2 5961 HP:0000407 Sensorineural hearing impairment ORPHANET:791 PRPH2 5961 HP:0001513 Obesity ORPHANET:791 PRPH2 5961 HP:0000842 Hyperinsulinemia ORPHANET:791 PRPH2 5961 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 PRPH2 5961 HP:0000662 Night blindness ORPHANET:791 PRPH2 5961 HP:0000639 Nystagmus ORPHANET:791 PRPH2 5961 HP:0000431 Wide nasal bridge ORPHANET:791 PRPH2 5961 HP:0000512 Abnormal electroretinogram ORPHANET:791 PRPH2 5961 HP:0008736 Hypoplasia of penis ORPHANET:791 PRPH2 5961 HP:0000501 Glaucoma ORPHANET:791 PRPH2 5961 HP:0000518 Cataract ORPHANET:791 PRPH2 5961 HP:0000613 Photophobia ORPHANET:791 PRPH2 5961 HP:0000505 Visual impairment ORPHANET:791 IDH3B 3420 HP:0001347 Hyperreflexia ORPHANET:791 IDH3B 3420 HP:0100689 Decreased corneal thickness ORPHANET:791 IDH3B 3420 HP:0000405 Conductive hearing impairment ORPHANET:791 IDH3B 3420 HP:0100543 Cognitive impairment ORPHANET:791 IDH3B 3420 HP:0000987 Atypical scarring of skin ORPHANET:791 IDH3B 3420 HP:0000035 Abnormality of the testis ORPHANET:791 IDH3B 3420 HP:0000648 Optic atrophy ORPHANET:791 IDH3B 3420 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 IDH3B 3420 HP:0000597 Ophthalmoparesis ORPHANET:791 IDH3B 3420 HP:0005978 Type II diabetes mellitus ORPHANET:791 IDH3B 3420 HP:0000463 Anteverted nares ORPHANET:791 IDH3B 3420 HP:0000407 Sensorineural hearing impairment ORPHANET:791 IDH3B 3420 HP:0001513 Obesity ORPHANET:791 IDH3B 3420 HP:0000842 Hyperinsulinemia ORPHANET:791 IDH3B 3420 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 IDH3B 3420 HP:0000662 Night blindness ORPHANET:791 IDH3B 3420 HP:0000639 Nystagmus ORPHANET:791 IDH3B 3420 HP:0000431 Wide nasal bridge ORPHANET:791 IDH3B 3420 HP:0000512 Abnormal electroretinogram ORPHANET:791 IDH3B 3420 HP:0008736 Hypoplasia of penis ORPHANET:791 IDH3B 3420 HP:0000501 Glaucoma ORPHANET:791 IDH3B 3420 HP:0000518 Cataract ORPHANET:791 IDH3B 3420 HP:0000613 Photophobia ORPHANET:791 IDH3B 3420 HP:0000505 Visual impairment ORPHANET:791 TUB 7275 HP:0001347 Hyperreflexia ORPHANET:791 TUB 7275 HP:0100689 Decreased corneal thickness ORPHANET:791 TUB 7275 HP:0000405 Conductive hearing impairment ORPHANET:791 TUB 7275 HP:0100543 Cognitive impairment ORPHANET:791 TUB 7275 HP:0000987 Atypical scarring of skin ORPHANET:791 TUB 7275 HP:0000035 Abnormality of the testis ORPHANET:791 TUB 7275 HP:0000648 Optic atrophy ORPHANET:791 TUB 7275 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 TUB 7275 HP:0000597 Ophthalmoparesis ORPHANET:791 TUB 7275 HP:0005978 Type II diabetes mellitus ORPHANET:791 TUB 7275 HP:0000463 Anteverted nares ORPHANET:791 TUB 7275 HP:0000407 Sensorineural hearing impairment ORPHANET:791 TUB 7275 HP:0001513 Obesity ORPHANET:791 TUB 7275 HP:0000842 Hyperinsulinemia ORPHANET:791 TUB 7275 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 TUB 7275 HP:0000662 Night blindness ORPHANET:791 TUB 7275 HP:0000639 Nystagmus ORPHANET:791 TUB 7275 HP:0000431 Wide nasal bridge ORPHANET:791 TUB 7275 HP:0000512 Abnormal electroretinogram ORPHANET:791 TUB 7275 HP:0008736 Hypoplasia of penis ORPHANET:791 TUB 7275 HP:0000501 Glaucoma ORPHANET:791 TUB 7275 HP:0000518 Cataract ORPHANET:791 TUB 7275 HP:0000613 Photophobia ORPHANET:791 TUB 7275 HP:0000505 Visual impairment ORPHANET:791 IMPG2 50939 HP:0001347 Hyperreflexia ORPHANET:791 IMPG2 50939 HP:0100689 Decreased corneal thickness ORPHANET:791 IMPG2 50939 HP:0000405 Conductive hearing impairment ORPHANET:791 IMPG2 50939 HP:0100543 Cognitive impairment ORPHANET:791 IMPG2 50939 HP:0000987 Atypical scarring of skin ORPHANET:791 IMPG2 50939 HP:0000035 Abnormality of the testis ORPHANET:791 IMPG2 50939 HP:0000648 Optic atrophy ORPHANET:791 IMPG2 50939 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 IMPG2 50939 HP:0000597 Ophthalmoparesis ORPHANET:791 IMPG2 50939 HP:0005978 Type II diabetes mellitus ORPHANET:791 IMPG2 50939 HP:0000463 Anteverted nares ORPHANET:791 IMPG2 50939 HP:0000407 Sensorineural hearing impairment ORPHANET:791 IMPG2 50939 HP:0001513 Obesity ORPHANET:791 IMPG2 50939 HP:0000842 Hyperinsulinemia ORPHANET:791 IMPG2 50939 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 IMPG2 50939 HP:0000662 Night blindness ORPHANET:791 IMPG2 50939 HP:0000639 Nystagmus ORPHANET:791 IMPG2 50939 HP:0000431 Wide nasal bridge ORPHANET:791 IMPG2 50939 HP:0000512 Abnormal electroretinogram ORPHANET:791 IMPG2 50939 HP:0008736 Hypoplasia of penis ORPHANET:791 IMPG2 50939 HP:0000501 Glaucoma ORPHANET:791 IMPG2 50939 HP:0000518 Cataract ORPHANET:791 IMPG2 50939 HP:0000613 Photophobia ORPHANET:791 IMPG2 50939 HP:0000505 Visual impairment ORPHANET:791 IFT172 26160 HP:0001347 Hyperreflexia ORPHANET:791 IFT172 26160 HP:0100689 Decreased corneal thickness ORPHANET:791 IFT172 26160 HP:0000405 Conductive hearing impairment ORPHANET:791 IFT172 26160 HP:0100543 Cognitive impairment ORPHANET:791 IFT172 26160 HP:0000987 Atypical scarring of skin ORPHANET:791 IFT172 26160 HP:0000035 Abnormality of the testis ORPHANET:791 IFT172 26160 HP:0000648 Optic atrophy ORPHANET:791 IFT172 26160 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 IFT172 26160 HP:0000597 Ophthalmoparesis ORPHANET:791 IFT172 26160 HP:0005978 Type II diabetes mellitus ORPHANET:791 IFT172 26160 HP:0000463 Anteverted nares ORPHANET:791 IFT172 26160 HP:0000407 Sensorineural hearing impairment ORPHANET:791 IFT172 26160 HP:0001513 Obesity ORPHANET:791 IFT172 26160 HP:0000842 Hyperinsulinemia ORPHANET:791 IFT172 26160 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 IFT172 26160 HP:0000662 Night blindness ORPHANET:791 IFT172 26160 HP:0000639 Nystagmus ORPHANET:791 IFT172 26160 HP:0000431 Wide nasal bridge ORPHANET:791 IFT172 26160 HP:0000512 Abnormal electroretinogram ORPHANET:791 IFT172 26160 HP:0008736 Hypoplasia of penis ORPHANET:791 IFT172 26160 HP:0000501 Glaucoma ORPHANET:791 IFT172 26160 HP:0000518 Cataract ORPHANET:791 IFT172 26160 HP:0000613 Photophobia ORPHANET:791 IFT172 26160 HP:0000505 Visual impairment ORPHANET:791 ABCA4 24 HP:0001347 Hyperreflexia ORPHANET:791 ABCA4 24 HP:0100689 Decreased corneal thickness ORPHANET:791 ABCA4 24 HP:0000405 Conductive hearing impairment ORPHANET:791 ABCA4 24 HP:0100543 Cognitive impairment ORPHANET:791 ABCA4 24 HP:0000987 Atypical scarring of skin ORPHANET:791 ABCA4 24 HP:0000035 Abnormality of the testis ORPHANET:791 ABCA4 24 HP:0000648 Optic atrophy ORPHANET:791 ABCA4 24 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 ABCA4 24 HP:0000597 Ophthalmoparesis ORPHANET:791 ABCA4 24 HP:0005978 Type II diabetes mellitus ORPHANET:791 ABCA4 24 HP:0000463 Anteverted nares ORPHANET:791 ABCA4 24 HP:0000407 Sensorineural hearing impairment ORPHANET:791 ABCA4 24 HP:0001513 Obesity ORPHANET:791 ABCA4 24 HP:0000842 Hyperinsulinemia ORPHANET:791 ABCA4 24 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 ABCA4 24 HP:0000662 Night blindness ORPHANET:791 ABCA4 24 HP:0000639 Nystagmus ORPHANET:791 ABCA4 24 HP:0000431 Wide nasal bridge ORPHANET:791 ABCA4 24 HP:0000512 Abnormal electroretinogram ORPHANET:791 ABCA4 24 HP:0008736 Hypoplasia of penis ORPHANET:791 ABCA4 24 HP:0000501 Glaucoma ORPHANET:791 ABCA4 24 HP:0000518 Cataract ORPHANET:791 ABCA4 24 HP:0000613 Photophobia ORPHANET:791 ABCA4 24 HP:0000505 Visual impairment ORPHANET:791 ROM1 6094 HP:0001347 Hyperreflexia ORPHANET:791 ROM1 6094 HP:0100689 Decreased corneal thickness ORPHANET:791 ROM1 6094 HP:0000405 Conductive hearing impairment ORPHANET:791 ROM1 6094 HP:0100543 Cognitive impairment ORPHANET:791 ROM1 6094 HP:0000987 Atypical scarring of skin ORPHANET:791 ROM1 6094 HP:0000035 Abnormality of the testis ORPHANET:791 ROM1 6094 HP:0000648 Optic atrophy ORPHANET:791 ROM1 6094 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 ROM1 6094 HP:0000597 Ophthalmoparesis ORPHANET:791 ROM1 6094 HP:0005978 Type II diabetes mellitus ORPHANET:791 ROM1 6094 HP:0000463 Anteverted nares ORPHANET:791 ROM1 6094 HP:0000407 Sensorineural hearing impairment ORPHANET:791 ROM1 6094 HP:0001513 Obesity ORPHANET:791 ROM1 6094 HP:0000842 Hyperinsulinemia ORPHANET:791 ROM1 6094 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 ROM1 6094 HP:0000662 Night blindness ORPHANET:791 ROM1 6094 HP:0000639 Nystagmus ORPHANET:791 ROM1 6094 HP:0000431 Wide nasal bridge ORPHANET:791 ROM1 6094 HP:0000512 Abnormal electroretinogram ORPHANET:791 ROM1 6094 HP:0008736 Hypoplasia of penis ORPHANET:791 ROM1 6094 HP:0000501 Glaucoma ORPHANET:791 ROM1 6094 HP:0000518 Cataract ORPHANET:791 ROM1 6094 HP:0000613 Photophobia ORPHANET:791 ROM1 6094 HP:0000505 Visual impairment ORPHANET:791 SPATA7 55812 HP:0001347 Hyperreflexia ORPHANET:791 SPATA7 55812 HP:0100689 Decreased corneal thickness ORPHANET:791 SPATA7 55812 HP:0000405 Conductive hearing impairment ORPHANET:791 SPATA7 55812 HP:0100543 Cognitive impairment ORPHANET:791 SPATA7 55812 HP:0000987 Atypical scarring of skin ORPHANET:791 SPATA7 55812 HP:0000035 Abnormality of the testis ORPHANET:791 SPATA7 55812 HP:0000648 Optic atrophy ORPHANET:791 SPATA7 55812 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 SPATA7 55812 HP:0000597 Ophthalmoparesis ORPHANET:791 SPATA7 55812 HP:0005978 Type II diabetes mellitus ORPHANET:791 SPATA7 55812 HP:0000463 Anteverted nares ORPHANET:791 SPATA7 55812 HP:0000407 Sensorineural hearing impairment ORPHANET:791 SPATA7 55812 HP:0001513 Obesity ORPHANET:791 SPATA7 55812 HP:0000842 Hyperinsulinemia ORPHANET:791 SPATA7 55812 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 SPATA7 55812 HP:0000662 Night blindness ORPHANET:791 SPATA7 55812 HP:0000639 Nystagmus ORPHANET:791 SPATA7 55812 HP:0000431 Wide nasal bridge ORPHANET:791 SPATA7 55812 HP:0000512 Abnormal electroretinogram ORPHANET:791 SPATA7 55812 HP:0008736 Hypoplasia of penis ORPHANET:791 SPATA7 55812 HP:0000501 Glaucoma ORPHANET:791 SPATA7 55812 HP:0000518 Cataract ORPHANET:791 SPATA7 55812 HP:0000613 Photophobia ORPHANET:791 SPATA7 55812 HP:0000505 Visual impairment ORPHANET:791 CLRN1 7401 HP:0001347 Hyperreflexia ORPHANET:791 CLRN1 7401 HP:0100689 Decreased corneal thickness ORPHANET:791 CLRN1 7401 HP:0000405 Conductive hearing impairment ORPHANET:791 CLRN1 7401 HP:0100543 Cognitive impairment ORPHANET:791 CLRN1 7401 HP:0000987 Atypical scarring of skin ORPHANET:791 CLRN1 7401 HP:0000035 Abnormality of the testis ORPHANET:791 CLRN1 7401 HP:0000648 Optic atrophy ORPHANET:791 CLRN1 7401 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 CLRN1 7401 HP:0000597 Ophthalmoparesis ORPHANET:791 CLRN1 7401 HP:0005978 Type II diabetes mellitus ORPHANET:791 CLRN1 7401 HP:0000463 Anteverted nares ORPHANET:791 CLRN1 7401 HP:0000407 Sensorineural hearing impairment ORPHANET:791 CLRN1 7401 HP:0001513 Obesity ORPHANET:791 CLRN1 7401 HP:0000842 Hyperinsulinemia ORPHANET:791 CLRN1 7401 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 CLRN1 7401 HP:0000662 Night blindness ORPHANET:791 CLRN1 7401 HP:0000639 Nystagmus ORPHANET:791 CLRN1 7401 HP:0000431 Wide nasal bridge ORPHANET:791 CLRN1 7401 HP:0000512 Abnormal electroretinogram ORPHANET:791 CLRN1 7401 HP:0008736 Hypoplasia of penis ORPHANET:791 CLRN1 7401 HP:0000501 Glaucoma ORPHANET:791 CLRN1 7401 HP:0000518 Cataract ORPHANET:791 CLRN1 7401 HP:0000613 Photophobia ORPHANET:791 CLRN1 7401 HP:0000505 Visual impairment ORPHANET:791 FAM161A 84140 HP:0001347 Hyperreflexia ORPHANET:791 FAM161A 84140 HP:0100689 Decreased corneal thickness ORPHANET:791 FAM161A 84140 HP:0000405 Conductive hearing impairment ORPHANET:791 FAM161A 84140 HP:0100543 Cognitive impairment ORPHANET:791 FAM161A 84140 HP:0000987 Atypical scarring of skin ORPHANET:791 FAM161A 84140 HP:0000035 Abnormality of the testis ORPHANET:791 FAM161A 84140 HP:0000648 Optic atrophy ORPHANET:791 FAM161A 84140 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 FAM161A 84140 HP:0000597 Ophthalmoparesis ORPHANET:791 FAM161A 84140 HP:0005978 Type II diabetes mellitus ORPHANET:791 FAM161A 84140 HP:0000463 Anteverted nares ORPHANET:791 FAM161A 84140 HP:0000407 Sensorineural hearing impairment ORPHANET:791 FAM161A 84140 HP:0001513 Obesity ORPHANET:791 FAM161A 84140 HP:0000842 Hyperinsulinemia ORPHANET:791 FAM161A 84140 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 FAM161A 84140 HP:0000662 Night blindness ORPHANET:791 FAM161A 84140 HP:0000639 Nystagmus ORPHANET:791 FAM161A 84140 HP:0000431 Wide nasal bridge ORPHANET:791 FAM161A 84140 HP:0000512 Abnormal electroretinogram ORPHANET:791 FAM161A 84140 HP:0008736 Hypoplasia of penis ORPHANET:791 FAM161A 84140 HP:0000501 Glaucoma ORPHANET:791 FAM161A 84140 HP:0000518 Cataract ORPHANET:791 FAM161A 84140 HP:0000613 Photophobia ORPHANET:791 FAM161A 84140 HP:0000505 Visual impairment ORPHANET:791 RHO 6010 HP:0001347 Hyperreflexia ORPHANET:791 RHO 6010 HP:0100689 Decreased corneal thickness ORPHANET:791 RHO 6010 HP:0000405 Conductive hearing impairment ORPHANET:791 RHO 6010 HP:0100543 Cognitive impairment ORPHANET:791 RHO 6010 HP:0000987 Atypical scarring of skin ORPHANET:791 RHO 6010 HP:0000035 Abnormality of the testis ORPHANET:791 RHO 6010 HP:0000648 Optic atrophy ORPHANET:791 RHO 6010 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 RHO 6010 HP:0000597 Ophthalmoparesis ORPHANET:791 RHO 6010 HP:0005978 Type II diabetes mellitus ORPHANET:791 RHO 6010 HP:0000463 Anteverted nares ORPHANET:791 RHO 6010 HP:0000407 Sensorineural hearing impairment ORPHANET:791 RHO 6010 HP:0001513 Obesity ORPHANET:791 RHO 6010 HP:0000842 Hyperinsulinemia ORPHANET:791 RHO 6010 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 RHO 6010 HP:0000662 Night blindness ORPHANET:791 RHO 6010 HP:0000639 Nystagmus ORPHANET:791 RHO 6010 HP:0000431 Wide nasal bridge ORPHANET:791 RHO 6010 HP:0000512 Abnormal electroretinogram ORPHANET:791 RHO 6010 HP:0008736 Hypoplasia of penis ORPHANET:791 RHO 6010 HP:0000501 Glaucoma ORPHANET:791 RHO 6010 HP:0000518 Cataract ORPHANET:791 RHO 6010 HP:0000613 Photophobia ORPHANET:791 RHO 6010 HP:0000505 Visual impairment ORPHANET:791 PRPF31 26121 HP:0001347 Hyperreflexia ORPHANET:791 PRPF31 26121 HP:0100689 Decreased corneal thickness ORPHANET:791 PRPF31 26121 HP:0000405 Conductive hearing impairment ORPHANET:791 PRPF31 26121 HP:0100543 Cognitive impairment ORPHANET:791 PRPF31 26121 HP:0000987 Atypical scarring of skin ORPHANET:791 PRPF31 26121 HP:0000035 Abnormality of the testis ORPHANET:791 PRPF31 26121 HP:0000648 Optic atrophy ORPHANET:791 PRPF31 26121 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 PRPF31 26121 HP:0000597 Ophthalmoparesis ORPHANET:791 PRPF31 26121 HP:0005978 Type II diabetes mellitus ORPHANET:791 PRPF31 26121 HP:0000463 Anteverted nares ORPHANET:791 PRPF31 26121 HP:0000407 Sensorineural hearing impairment ORPHANET:791 PRPF31 26121 HP:0001513 Obesity ORPHANET:791 PRPF31 26121 HP:0000842 Hyperinsulinemia ORPHANET:791 PRPF31 26121 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 PRPF31 26121 HP:0000662 Night blindness ORPHANET:791 PRPF31 26121 HP:0000639 Nystagmus ORPHANET:791 PRPF31 26121 HP:0000431 Wide nasal bridge ORPHANET:791 PRPF31 26121 HP:0000512 Abnormal electroretinogram ORPHANET:791 PRPF31 26121 HP:0008736 Hypoplasia of penis ORPHANET:791 PRPF31 26121 HP:0000501 Glaucoma ORPHANET:791 PRPF31 26121 HP:0000518 Cataract ORPHANET:791 PRPF31 26121 HP:0000613 Photophobia ORPHANET:791 PRPF31 26121 HP:0000505 Visual impairment ORPHANET:791 CRX 1406 HP:0001347 Hyperreflexia ORPHANET:791 CRX 1406 HP:0100689 Decreased corneal thickness ORPHANET:791 CRX 1406 HP:0000405 Conductive hearing impairment ORPHANET:791 CRX 1406 HP:0100543 Cognitive impairment ORPHANET:791 CRX 1406 HP:0000987 Atypical scarring of skin ORPHANET:791 CRX 1406 HP:0000035 Abnormality of the testis ORPHANET:791 CRX 1406 HP:0000648 Optic atrophy ORPHANET:791 CRX 1406 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 CRX 1406 HP:0000597 Ophthalmoparesis ORPHANET:791 CRX 1406 HP:0005978 Type II diabetes mellitus ORPHANET:791 CRX 1406 HP:0000463 Anteverted nares ORPHANET:791 CRX 1406 HP:0000407 Sensorineural hearing impairment ORPHANET:791 CRX 1406 HP:0001513 Obesity ORPHANET:791 CRX 1406 HP:0000842 Hyperinsulinemia ORPHANET:791 CRX 1406 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 CRX 1406 HP:0000662 Night blindness ORPHANET:791 CRX 1406 HP:0000639 Nystagmus ORPHANET:791 CRX 1406 HP:0000431 Wide nasal bridge ORPHANET:791 CRX 1406 HP:0000512 Abnormal electroretinogram ORPHANET:791 CRX 1406 HP:0008736 Hypoplasia of penis ORPHANET:791 CRX 1406 HP:0000501 Glaucoma ORPHANET:791 CRX 1406 HP:0000518 Cataract ORPHANET:791 CRX 1406 HP:0000613 Photophobia ORPHANET:791 CRX 1406 HP:0000505 Visual impairment ORPHANET:791 PRPF8 10594 HP:0001347 Hyperreflexia ORPHANET:791 PRPF8 10594 HP:0100689 Decreased corneal thickness ORPHANET:791 PRPF8 10594 HP:0000405 Conductive hearing impairment ORPHANET:791 PRPF8 10594 HP:0100543 Cognitive impairment ORPHANET:791 PRPF8 10594 HP:0000987 Atypical scarring of skin ORPHANET:791 PRPF8 10594 HP:0000035 Abnormality of the testis ORPHANET:791 PRPF8 10594 HP:0000648 Optic atrophy ORPHANET:791 PRPF8 10594 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 PRPF8 10594 HP:0000597 Ophthalmoparesis ORPHANET:791 PRPF8 10594 HP:0005978 Type II diabetes mellitus ORPHANET:791 PRPF8 10594 HP:0000463 Anteverted nares ORPHANET:791 PRPF8 10594 HP:0000407 Sensorineural hearing impairment ORPHANET:791 PRPF8 10594 HP:0001513 Obesity ORPHANET:791 PRPF8 10594 HP:0000842 Hyperinsulinemia ORPHANET:791 PRPF8 10594 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 PRPF8 10594 HP:0000662 Night blindness ORPHANET:791 PRPF8 10594 HP:0000639 Nystagmus ORPHANET:791 PRPF8 10594 HP:0000431 Wide nasal bridge ORPHANET:791 PRPF8 10594 HP:0000512 Abnormal electroretinogram ORPHANET:791 PRPF8 10594 HP:0008736 Hypoplasia of penis ORPHANET:791 PRPF8 10594 HP:0000501 Glaucoma ORPHANET:791 PRPF8 10594 HP:0000518 Cataract ORPHANET:791 PRPF8 10594 HP:0000613 Photophobia ORPHANET:791 PRPF8 10594 HP:0000505 Visual impairment ORPHANET:791 KIZ 55857 HP:0001347 Hyperreflexia ORPHANET:791 KIZ 55857 HP:0100689 Decreased corneal thickness ORPHANET:791 KIZ 55857 HP:0000405 Conductive hearing impairment ORPHANET:791 KIZ 55857 HP:0100543 Cognitive impairment ORPHANET:791 KIZ 55857 HP:0000987 Atypical scarring of skin ORPHANET:791 KIZ 55857 HP:0000035 Abnormality of the testis ORPHANET:791 KIZ 55857 HP:0000648 Optic atrophy ORPHANET:791 KIZ 55857 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 KIZ 55857 HP:0000597 Ophthalmoparesis ORPHANET:791 KIZ 55857 HP:0005978 Type II diabetes mellitus ORPHANET:791 KIZ 55857 HP:0000463 Anteverted nares ORPHANET:791 KIZ 55857 HP:0000407 Sensorineural hearing impairment ORPHANET:791 KIZ 55857 HP:0001513 Obesity ORPHANET:791 KIZ 55857 HP:0000842 Hyperinsulinemia ORPHANET:791 KIZ 55857 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 KIZ 55857 HP:0000662 Night blindness ORPHANET:791 KIZ 55857 HP:0000639 Nystagmus ORPHANET:791 KIZ 55857 HP:0000431 Wide nasal bridge ORPHANET:791 KIZ 55857 HP:0000512 Abnormal electroretinogram ORPHANET:791 KIZ 55857 HP:0008736 Hypoplasia of penis ORPHANET:791 KIZ 55857 HP:0000501 Glaucoma ORPHANET:791 KIZ 55857 HP:0000518 Cataract ORPHANET:791 KIZ 55857 HP:0000613 Photophobia ORPHANET:791 KIZ 55857 HP:0000505 Visual impairment ORPHANET:791 CNGA1 1259 HP:0001347 Hyperreflexia ORPHANET:791 CNGA1 1259 HP:0100689 Decreased corneal thickness ORPHANET:791 CNGA1 1259 HP:0000405 Conductive hearing impairment ORPHANET:791 CNGA1 1259 HP:0100543 Cognitive impairment ORPHANET:791 CNGA1 1259 HP:0000987 Atypical scarring of skin ORPHANET:791 CNGA1 1259 HP:0000035 Abnormality of the testis ORPHANET:791 CNGA1 1259 HP:0000648 Optic atrophy ORPHANET:791 CNGA1 1259 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 CNGA1 1259 HP:0000597 Ophthalmoparesis ORPHANET:791 CNGA1 1259 HP:0005978 Type II diabetes mellitus ORPHANET:791 CNGA1 1259 HP:0000463 Anteverted nares ORPHANET:791 CNGA1 1259 HP:0000407 Sensorineural hearing impairment ORPHANET:791 CNGA1 1259 HP:0001513 Obesity ORPHANET:791 CNGA1 1259 HP:0000842 Hyperinsulinemia ORPHANET:791 CNGA1 1259 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 CNGA1 1259 HP:0000662 Night blindness ORPHANET:791 CNGA1 1259 HP:0000639 Nystagmus ORPHANET:791 CNGA1 1259 HP:0000431 Wide nasal bridge ORPHANET:791 CNGA1 1259 HP:0000512 Abnormal electroretinogram ORPHANET:791 CNGA1 1259 HP:0008736 Hypoplasia of penis ORPHANET:791 CNGA1 1259 HP:0000501 Glaucoma ORPHANET:791 CNGA1 1259 HP:0000518 Cataract ORPHANET:791 CNGA1 1259 HP:0000613 Photophobia ORPHANET:791 CNGA1 1259 HP:0000505 Visual impairment ORPHANET:791 DHDDS 79947 HP:0001347 Hyperreflexia ORPHANET:791 DHDDS 79947 HP:0100689 Decreased corneal thickness ORPHANET:791 DHDDS 79947 HP:0000405 Conductive hearing impairment ORPHANET:791 DHDDS 79947 HP:0100543 Cognitive impairment ORPHANET:791 DHDDS 79947 HP:0000987 Atypical scarring of skin ORPHANET:791 DHDDS 79947 HP:0000035 Abnormality of the testis ORPHANET:791 DHDDS 79947 HP:0000648 Optic atrophy ORPHANET:791 DHDDS 79947 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 DHDDS 79947 HP:0000597 Ophthalmoparesis ORPHANET:791 DHDDS 79947 HP:0005978 Type II diabetes mellitus ORPHANET:791 DHDDS 79947 HP:0000463 Anteverted nares ORPHANET:791 DHDDS 79947 HP:0000407 Sensorineural hearing impairment ORPHANET:791 DHDDS 79947 HP:0001513 Obesity ORPHANET:791 DHDDS 79947 HP:0000842 Hyperinsulinemia ORPHANET:791 DHDDS 79947 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 DHDDS 79947 HP:0000662 Night blindness ORPHANET:791 DHDDS 79947 HP:0000639 Nystagmus ORPHANET:791 DHDDS 79947 HP:0000431 Wide nasal bridge ORPHANET:791 DHDDS 79947 HP:0000512 Abnormal electroretinogram ORPHANET:791 DHDDS 79947 HP:0008736 Hypoplasia of penis ORPHANET:791 DHDDS 79947 HP:0000501 Glaucoma ORPHANET:791 DHDDS 79947 HP:0000518 Cataract ORPHANET:791 DHDDS 79947 HP:0000613 Photophobia ORPHANET:791 DHDDS 79947 HP:0000505 Visual impairment ORPHANET:791 CNGB1 1258 HP:0001347 Hyperreflexia ORPHANET:791 CNGB1 1258 HP:0100689 Decreased corneal thickness ORPHANET:791 CNGB1 1258 HP:0000405 Conductive hearing impairment ORPHANET:791 CNGB1 1258 HP:0100543 Cognitive impairment ORPHANET:791 CNGB1 1258 HP:0000987 Atypical scarring of skin ORPHANET:791 CNGB1 1258 HP:0000035 Abnormality of the testis ORPHANET:791 CNGB1 1258 HP:0000648 Optic atrophy ORPHANET:791 CNGB1 1258 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 CNGB1 1258 HP:0000597 Ophthalmoparesis ORPHANET:791 CNGB1 1258 HP:0005978 Type II diabetes mellitus ORPHANET:791 CNGB1 1258 HP:0000463 Anteverted nares ORPHANET:791 CNGB1 1258 HP:0000407 Sensorineural hearing impairment ORPHANET:791 CNGB1 1258 HP:0001513 Obesity ORPHANET:791 CNGB1 1258 HP:0000842 Hyperinsulinemia ORPHANET:791 CNGB1 1258 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 CNGB1 1258 HP:0000662 Night blindness ORPHANET:791 CNGB1 1258 HP:0000639 Nystagmus ORPHANET:791 CNGB1 1258 HP:0000431 Wide nasal bridge ORPHANET:791 CNGB1 1258 HP:0000512 Abnormal electroretinogram ORPHANET:791 CNGB1 1258 HP:0008736 Hypoplasia of penis ORPHANET:791 CNGB1 1258 HP:0000501 Glaucoma ORPHANET:791 CNGB1 1258 HP:0000518 Cataract ORPHANET:791 CNGB1 1258 HP:0000613 Photophobia ORPHANET:791 CNGB1 1258 HP:0000505 Visual impairment ORPHANET:791 SAG 6295 HP:0001347 Hyperreflexia ORPHANET:791 SAG 6295 HP:0100689 Decreased corneal thickness ORPHANET:791 SAG 6295 HP:0000405 Conductive hearing impairment ORPHANET:791 SAG 6295 HP:0100543 Cognitive impairment ORPHANET:791 SAG 6295 HP:0000987 Atypical scarring of skin ORPHANET:791 SAG 6295 HP:0000035 Abnormality of the testis ORPHANET:791 SAG 6295 HP:0000648 Optic atrophy ORPHANET:791 SAG 6295 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 SAG 6295 HP:0000597 Ophthalmoparesis ORPHANET:791 SAG 6295 HP:0005978 Type II diabetes mellitus ORPHANET:791 SAG 6295 HP:0000463 Anteverted nares ORPHANET:791 SAG 6295 HP:0000407 Sensorineural hearing impairment ORPHANET:791 SAG 6295 HP:0001513 Obesity ORPHANET:791 SAG 6295 HP:0000842 Hyperinsulinemia ORPHANET:791 SAG 6295 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 SAG 6295 HP:0000662 Night blindness ORPHANET:791 SAG 6295 HP:0000639 Nystagmus ORPHANET:791 SAG 6295 HP:0000431 Wide nasal bridge ORPHANET:791 SAG 6295 HP:0000512 Abnormal electroretinogram ORPHANET:791 SAG 6295 HP:0008736 Hypoplasia of penis ORPHANET:791 SAG 6295 HP:0000501 Glaucoma ORPHANET:791 SAG 6295 HP:0000518 Cataract ORPHANET:791 SAG 6295 HP:0000613 Photophobia ORPHANET:791 SAG 6295 HP:0000505 Visual impairment ORPHANET:791 NR2E3 10002 HP:0001347 Hyperreflexia ORPHANET:791 NR2E3 10002 HP:0100689 Decreased corneal thickness ORPHANET:791 NR2E3 10002 HP:0000405 Conductive hearing impairment ORPHANET:791 NR2E3 10002 HP:0100543 Cognitive impairment ORPHANET:791 NR2E3 10002 HP:0000987 Atypical scarring of skin ORPHANET:791 NR2E3 10002 HP:0000035 Abnormality of the testis ORPHANET:791 NR2E3 10002 HP:0000648 Optic atrophy ORPHANET:791 NR2E3 10002 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 NR2E3 10002 HP:0000597 Ophthalmoparesis ORPHANET:791 NR2E3 10002 HP:0005978 Type II diabetes mellitus ORPHANET:791 NR2E3 10002 HP:0000463 Anteverted nares ORPHANET:791 NR2E3 10002 HP:0000407 Sensorineural hearing impairment ORPHANET:791 NR2E3 10002 HP:0001513 Obesity ORPHANET:791 NR2E3 10002 HP:0000842 Hyperinsulinemia ORPHANET:791 NR2E3 10002 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 NR2E3 10002 HP:0000662 Night blindness ORPHANET:791 NR2E3 10002 HP:0000639 Nystagmus ORPHANET:791 NR2E3 10002 HP:0000431 Wide nasal bridge ORPHANET:791 NR2E3 10002 HP:0000512 Abnormal electroretinogram ORPHANET:791 NR2E3 10002 HP:0008736 Hypoplasia of penis ORPHANET:791 NR2E3 10002 HP:0000501 Glaucoma ORPHANET:791 NR2E3 10002 HP:0000518 Cataract ORPHANET:791 NR2E3 10002 HP:0000613 Photophobia ORPHANET:791 NR2E3 10002 HP:0000505 Visual impairment ORPHANET:791 NRL 4901 HP:0001347 Hyperreflexia ORPHANET:791 NRL 4901 HP:0100689 Decreased corneal thickness ORPHANET:791 NRL 4901 HP:0000405 Conductive hearing impairment ORPHANET:791 NRL 4901 HP:0100543 Cognitive impairment ORPHANET:791 NRL 4901 HP:0000987 Atypical scarring of skin ORPHANET:791 NRL 4901 HP:0000035 Abnormality of the testis ORPHANET:791 NRL 4901 HP:0000648 Optic atrophy ORPHANET:791 NRL 4901 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 NRL 4901 HP:0000597 Ophthalmoparesis ORPHANET:791 NRL 4901 HP:0005978 Type II diabetes mellitus ORPHANET:791 NRL 4901 HP:0000463 Anteverted nares ORPHANET:791 NRL 4901 HP:0000407 Sensorineural hearing impairment ORPHANET:791 NRL 4901 HP:0001513 Obesity ORPHANET:791 NRL 4901 HP:0000842 Hyperinsulinemia ORPHANET:791 NRL 4901 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 NRL 4901 HP:0000662 Night blindness ORPHANET:791 NRL 4901 HP:0000639 Nystagmus ORPHANET:791 NRL 4901 HP:0000431 Wide nasal bridge ORPHANET:791 NRL 4901 HP:0000512 Abnormal electroretinogram ORPHANET:791 NRL 4901 HP:0008736 Hypoplasia of penis ORPHANET:791 NRL 4901 HP:0000501 Glaucoma ORPHANET:791 NRL 4901 HP:0000518 Cataract ORPHANET:791 NRL 4901 HP:0000613 Photophobia ORPHANET:791 NRL 4901 HP:0000505 Visual impairment ORPHANET:791 EYS 346007 HP:0001347 Hyperreflexia ORPHANET:791 EYS 346007 HP:0100689 Decreased corneal thickness ORPHANET:791 EYS 346007 HP:0000405 Conductive hearing impairment ORPHANET:791 EYS 346007 HP:0100543 Cognitive impairment ORPHANET:791 EYS 346007 HP:0000987 Atypical scarring of skin ORPHANET:791 EYS 346007 HP:0000035 Abnormality of the testis ORPHANET:791 EYS 346007 HP:0000648 Optic atrophy ORPHANET:791 EYS 346007 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 EYS 346007 HP:0000597 Ophthalmoparesis ORPHANET:791 EYS 346007 HP:0005978 Type II diabetes mellitus ORPHANET:791 EYS 346007 HP:0000463 Anteverted nares ORPHANET:791 EYS 346007 HP:0000407 Sensorineural hearing impairment ORPHANET:791 EYS 346007 HP:0001513 Obesity ORPHANET:791 EYS 346007 HP:0000842 Hyperinsulinemia ORPHANET:791 EYS 346007 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 EYS 346007 HP:0000662 Night blindness ORPHANET:791 EYS 346007 HP:0000639 Nystagmus ORPHANET:791 EYS 346007 HP:0000431 Wide nasal bridge ORPHANET:791 EYS 346007 HP:0000512 Abnormal electroretinogram ORPHANET:791 EYS 346007 HP:0008736 Hypoplasia of penis ORPHANET:791 EYS 346007 HP:0000501 Glaucoma ORPHANET:791 EYS 346007 HP:0000518 Cataract ORPHANET:791 EYS 346007 HP:0000613 Photophobia ORPHANET:791 EYS 346007 HP:0000505 Visual impairment ORPHANET:791 RGR 5995 HP:0001347 Hyperreflexia ORPHANET:791 RGR 5995 HP:0100689 Decreased corneal thickness ORPHANET:791 RGR 5995 HP:0000405 Conductive hearing impairment ORPHANET:791 RGR 5995 HP:0100543 Cognitive impairment ORPHANET:791 RGR 5995 HP:0000987 Atypical scarring of skin ORPHANET:791 RGR 5995 HP:0000035 Abnormality of the testis ORPHANET:791 RGR 5995 HP:0000648 Optic atrophy ORPHANET:791 RGR 5995 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 RGR 5995 HP:0000597 Ophthalmoparesis ORPHANET:791 RGR 5995 HP:0005978 Type II diabetes mellitus ORPHANET:791 RGR 5995 HP:0000463 Anteverted nares ORPHANET:791 RGR 5995 HP:0000407 Sensorineural hearing impairment ORPHANET:791 RGR 5995 HP:0001513 Obesity ORPHANET:791 RGR 5995 HP:0000842 Hyperinsulinemia ORPHANET:791 RGR 5995 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 RGR 5995 HP:0000662 Night blindness ORPHANET:791 RGR 5995 HP:0000639 Nystagmus ORPHANET:791 RGR 5995 HP:0000431 Wide nasal bridge ORPHANET:791 RGR 5995 HP:0000512 Abnormal electroretinogram ORPHANET:791 RGR 5995 HP:0008736 Hypoplasia of penis ORPHANET:791 RGR 5995 HP:0000501 Glaucoma ORPHANET:791 RGR 5995 HP:0000518 Cataract ORPHANET:791 RGR 5995 HP:0000613 Photophobia ORPHANET:791 RGR 5995 HP:0000505 Visual impairment ORPHANET:791 MAK 4117 HP:0001347 Hyperreflexia ORPHANET:791 MAK 4117 HP:0100689 Decreased corneal thickness ORPHANET:791 MAK 4117 HP:0000405 Conductive hearing impairment ORPHANET:791 MAK 4117 HP:0100543 Cognitive impairment ORPHANET:791 MAK 4117 HP:0000987 Atypical scarring of skin ORPHANET:791 MAK 4117 HP:0000035 Abnormality of the testis ORPHANET:791 MAK 4117 HP:0000648 Optic atrophy ORPHANET:791 MAK 4117 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 MAK 4117 HP:0000597 Ophthalmoparesis ORPHANET:791 MAK 4117 HP:0005978 Type II diabetes mellitus ORPHANET:791 MAK 4117 HP:0000463 Anteverted nares ORPHANET:791 MAK 4117 HP:0000407 Sensorineural hearing impairment ORPHANET:791 MAK 4117 HP:0001513 Obesity ORPHANET:791 MAK 4117 HP:0000842 Hyperinsulinemia ORPHANET:791 MAK 4117 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 MAK 4117 HP:0000662 Night blindness ORPHANET:791 MAK 4117 HP:0000639 Nystagmus ORPHANET:791 MAK 4117 HP:0000431 Wide nasal bridge ORPHANET:791 MAK 4117 HP:0000512 Abnormal electroretinogram ORPHANET:791 MAK 4117 HP:0008736 Hypoplasia of penis ORPHANET:791 MAK 4117 HP:0000501 Glaucoma ORPHANET:791 MAK 4117 HP:0000518 Cataract ORPHANET:791 MAK 4117 HP:0000613 Photophobia ORPHANET:791 MAK 4117 HP:0000505 Visual impairment ORPHANET:791 KLHL7 55975 HP:0001347 Hyperreflexia ORPHANET:791 KLHL7 55975 HP:0100689 Decreased corneal thickness ORPHANET:791 KLHL7 55975 HP:0000405 Conductive hearing impairment ORPHANET:791 KLHL7 55975 HP:0100543 Cognitive impairment ORPHANET:791 KLHL7 55975 HP:0000987 Atypical scarring of skin ORPHANET:791 KLHL7 55975 HP:0000035 Abnormality of the testis ORPHANET:791 KLHL7 55975 HP:0000648 Optic atrophy ORPHANET:791 KLHL7 55975 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 KLHL7 55975 HP:0000597 Ophthalmoparesis ORPHANET:791 KLHL7 55975 HP:0005978 Type II diabetes mellitus ORPHANET:791 KLHL7 55975 HP:0000463 Anteverted nares ORPHANET:791 KLHL7 55975 HP:0000407 Sensorineural hearing impairment ORPHANET:791 KLHL7 55975 HP:0001513 Obesity ORPHANET:791 KLHL7 55975 HP:0000842 Hyperinsulinemia ORPHANET:791 KLHL7 55975 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 KLHL7 55975 HP:0000662 Night blindness ORPHANET:791 KLHL7 55975 HP:0000639 Nystagmus ORPHANET:791 KLHL7 55975 HP:0000431 Wide nasal bridge ORPHANET:791 KLHL7 55975 HP:0000512 Abnormal electroretinogram ORPHANET:791 KLHL7 55975 HP:0008736 Hypoplasia of penis ORPHANET:791 KLHL7 55975 HP:0000501 Glaucoma ORPHANET:791 KLHL7 55975 HP:0000518 Cataract ORPHANET:791 KLHL7 55975 HP:0000613 Photophobia ORPHANET:791 KLHL7 55975 HP:0000505 Visual impairment ORPHANET:791 SLC7A14 57709 HP:0001347 Hyperreflexia ORPHANET:791 SLC7A14 57709 HP:0100689 Decreased corneal thickness ORPHANET:791 SLC7A14 57709 HP:0000405 Conductive hearing impairment ORPHANET:791 SLC7A14 57709 HP:0100543 Cognitive impairment ORPHANET:791 SLC7A14 57709 HP:0000987 Atypical scarring of skin ORPHANET:791 SLC7A14 57709 HP:0000035 Abnormality of the testis ORPHANET:791 SLC7A14 57709 HP:0000648 Optic atrophy ORPHANET:791 SLC7A14 57709 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 SLC7A14 57709 HP:0000597 Ophthalmoparesis ORPHANET:791 SLC7A14 57709 HP:0005978 Type II diabetes mellitus ORPHANET:791 SLC7A14 57709 HP:0000463 Anteverted nares ORPHANET:791 SLC7A14 57709 HP:0000407 Sensorineural hearing impairment ORPHANET:791 SLC7A14 57709 HP:0001513 Obesity ORPHANET:791 SLC7A14 57709 HP:0000842 Hyperinsulinemia ORPHANET:791 SLC7A14 57709 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 SLC7A14 57709 HP:0000662 Night blindness ORPHANET:791 SLC7A14 57709 HP:0000639 Nystagmus ORPHANET:791 SLC7A14 57709 HP:0000431 Wide nasal bridge ORPHANET:791 SLC7A14 57709 HP:0000512 Abnormal electroretinogram ORPHANET:791 SLC7A14 57709 HP:0008736 Hypoplasia of penis ORPHANET:791 SLC7A14 57709 HP:0000501 Glaucoma ORPHANET:791 SLC7A14 57709 HP:0000518 Cataract ORPHANET:791 SLC7A14 57709 HP:0000613 Photophobia ORPHANET:791 SLC7A14 57709 HP:0000505 Visual impairment ORPHANET:791 RPE65 6121 HP:0001347 Hyperreflexia ORPHANET:791 RPE65 6121 HP:0100689 Decreased corneal thickness ORPHANET:791 RPE65 6121 HP:0000405 Conductive hearing impairment ORPHANET:791 RPE65 6121 HP:0100543 Cognitive impairment ORPHANET:791 RPE65 6121 HP:0000987 Atypical scarring of skin ORPHANET:791 RPE65 6121 HP:0000035 Abnormality of the testis ORPHANET:791 RPE65 6121 HP:0000648 Optic atrophy ORPHANET:791 RPE65 6121 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 RPE65 6121 HP:0000597 Ophthalmoparesis ORPHANET:791 RPE65 6121 HP:0005978 Type II diabetes mellitus ORPHANET:791 RPE65 6121 HP:0000463 Anteverted nares ORPHANET:791 RPE65 6121 HP:0000407 Sensorineural hearing impairment ORPHANET:791 RPE65 6121 HP:0001513 Obesity ORPHANET:791 RPE65 6121 HP:0000842 Hyperinsulinemia ORPHANET:791 RPE65 6121 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 RPE65 6121 HP:0000662 Night blindness ORPHANET:791 RPE65 6121 HP:0000639 Nystagmus ORPHANET:791 RPE65 6121 HP:0000431 Wide nasal bridge ORPHANET:791 RPE65 6121 HP:0000512 Abnormal electroretinogram ORPHANET:791 RPE65 6121 HP:0008736 Hypoplasia of penis ORPHANET:791 RPE65 6121 HP:0000501 Glaucoma ORPHANET:791 RPE65 6121 HP:0000518 Cataract ORPHANET:791 RPE65 6121 HP:0000613 Photophobia ORPHANET:791 RPE65 6121 HP:0000505 Visual impairment ORPHANET:791 C2ORF71 388939 HP:0001347 Hyperreflexia ORPHANET:791 C2ORF71 388939 HP:0100689 Decreased corneal thickness ORPHANET:791 C2ORF71 388939 HP:0000405 Conductive hearing impairment ORPHANET:791 C2ORF71 388939 HP:0100543 Cognitive impairment ORPHANET:791 C2ORF71 388939 HP:0000987 Atypical scarring of skin ORPHANET:791 C2ORF71 388939 HP:0000035 Abnormality of the testis ORPHANET:791 C2ORF71 388939 HP:0000648 Optic atrophy ORPHANET:791 C2ORF71 388939 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 C2ORF71 388939 HP:0000597 Ophthalmoparesis ORPHANET:791 C2ORF71 388939 HP:0005978 Type II diabetes mellitus ORPHANET:791 C2ORF71 388939 HP:0000463 Anteverted nares ORPHANET:791 C2ORF71 388939 HP:0000407 Sensorineural hearing impairment ORPHANET:791 C2ORF71 388939 HP:0001513 Obesity ORPHANET:791 C2ORF71 388939 HP:0000842 Hyperinsulinemia ORPHANET:791 C2ORF71 388939 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 C2ORF71 388939 HP:0000662 Night blindness ORPHANET:791 C2ORF71 388939 HP:0000639 Nystagmus ORPHANET:791 C2ORF71 388939 HP:0000431 Wide nasal bridge ORPHANET:791 C2ORF71 388939 HP:0000512 Abnormal electroretinogram ORPHANET:791 C2ORF71 388939 HP:0008736 Hypoplasia of penis ORPHANET:791 C2ORF71 388939 HP:0000501 Glaucoma ORPHANET:791 C2ORF71 388939 HP:0000518 Cataract ORPHANET:791 C2ORF71 388939 HP:0000613 Photophobia ORPHANET:791 C2ORF71 388939 HP:0000505 Visual impairment ORPHANET:791 FSCN2 25794 HP:0001347 Hyperreflexia ORPHANET:791 FSCN2 25794 HP:0100689 Decreased corneal thickness ORPHANET:791 FSCN2 25794 HP:0000405 Conductive hearing impairment ORPHANET:791 FSCN2 25794 HP:0100543 Cognitive impairment ORPHANET:791 FSCN2 25794 HP:0000987 Atypical scarring of skin ORPHANET:791 FSCN2 25794 HP:0000035 Abnormality of the testis ORPHANET:791 FSCN2 25794 HP:0000648 Optic atrophy ORPHANET:791 FSCN2 25794 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 FSCN2 25794 HP:0000597 Ophthalmoparesis ORPHANET:791 FSCN2 25794 HP:0005978 Type II diabetes mellitus ORPHANET:791 FSCN2 25794 HP:0000463 Anteverted nares ORPHANET:791 FSCN2 25794 HP:0000407 Sensorineural hearing impairment ORPHANET:791 FSCN2 25794 HP:0001513 Obesity ORPHANET:791 FSCN2 25794 HP:0000842 Hyperinsulinemia ORPHANET:791 FSCN2 25794 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 FSCN2 25794 HP:0000662 Night blindness ORPHANET:791 FSCN2 25794 HP:0000639 Nystagmus ORPHANET:791 FSCN2 25794 HP:0000431 Wide nasal bridge ORPHANET:791 FSCN2 25794 HP:0000512 Abnormal electroretinogram ORPHANET:791 FSCN2 25794 HP:0008736 Hypoplasia of penis ORPHANET:791 FSCN2 25794 HP:0000501 Glaucoma ORPHANET:791 FSCN2 25794 HP:0000518 Cataract ORPHANET:791 FSCN2 25794 HP:0000613 Photophobia ORPHANET:791 FSCN2 25794 HP:0000505 Visual impairment ORPHANET:791 SNRNP200 23020 HP:0001347 Hyperreflexia ORPHANET:791 SNRNP200 23020 HP:0100689 Decreased corneal thickness ORPHANET:791 SNRNP200 23020 HP:0000405 Conductive hearing impairment ORPHANET:791 SNRNP200 23020 HP:0100543 Cognitive impairment ORPHANET:791 SNRNP200 23020 HP:0000987 Atypical scarring of skin ORPHANET:791 SNRNP200 23020 HP:0000035 Abnormality of the testis ORPHANET:791 SNRNP200 23020 HP:0000648 Optic atrophy ORPHANET:791 SNRNP200 23020 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 SNRNP200 23020 HP:0000597 Ophthalmoparesis ORPHANET:791 SNRNP200 23020 HP:0005978 Type II diabetes mellitus ORPHANET:791 SNRNP200 23020 HP:0000463 Anteverted nares ORPHANET:791 SNRNP200 23020 HP:0000407 Sensorineural hearing impairment ORPHANET:791 SNRNP200 23020 HP:0001513 Obesity ORPHANET:791 SNRNP200 23020 HP:0000842 Hyperinsulinemia ORPHANET:791 SNRNP200 23020 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 SNRNP200 23020 HP:0000662 Night blindness ORPHANET:791 SNRNP200 23020 HP:0000639 Nystagmus ORPHANET:791 SNRNP200 23020 HP:0000431 Wide nasal bridge ORPHANET:791 SNRNP200 23020 HP:0000512 Abnormal electroretinogram ORPHANET:791 SNRNP200 23020 HP:0008736 Hypoplasia of penis ORPHANET:791 SNRNP200 23020 HP:0000501 Glaucoma ORPHANET:791 SNRNP200 23020 HP:0000518 Cataract ORPHANET:791 SNRNP200 23020 HP:0000613 Photophobia ORPHANET:791 SNRNP200 23020 HP:0000505 Visual impairment ORPHANET:791 ZNF513 130557 HP:0001347 Hyperreflexia ORPHANET:791 ZNF513 130557 HP:0100689 Decreased corneal thickness ORPHANET:791 ZNF513 130557 HP:0000405 Conductive hearing impairment ORPHANET:791 ZNF513 130557 HP:0100543 Cognitive impairment ORPHANET:791 ZNF513 130557 HP:0000987 Atypical scarring of skin ORPHANET:791 ZNF513 130557 HP:0000035 Abnormality of the testis ORPHANET:791 ZNF513 130557 HP:0000648 Optic atrophy ORPHANET:791 ZNF513 130557 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 ZNF513 130557 HP:0000597 Ophthalmoparesis ORPHANET:791 ZNF513 130557 HP:0005978 Type II diabetes mellitus ORPHANET:791 ZNF513 130557 HP:0000463 Anteverted nares ORPHANET:791 ZNF513 130557 HP:0000407 Sensorineural hearing impairment ORPHANET:791 ZNF513 130557 HP:0001513 Obesity ORPHANET:791 ZNF513 130557 HP:0000842 Hyperinsulinemia ORPHANET:791 ZNF513 130557 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 ZNF513 130557 HP:0000662 Night blindness ORPHANET:791 ZNF513 130557 HP:0000639 Nystagmus ORPHANET:791 ZNF513 130557 HP:0000431 Wide nasal bridge ORPHANET:791 ZNF513 130557 HP:0000512 Abnormal electroretinogram ORPHANET:791 ZNF513 130557 HP:0008736 Hypoplasia of penis ORPHANET:791 ZNF513 130557 HP:0000501 Glaucoma ORPHANET:791 ZNF513 130557 HP:0000518 Cataract ORPHANET:791 ZNF513 130557 HP:0000613 Photophobia ORPHANET:791 ZNF513 130557 HP:0000505 Visual impairment ORPHANET:791 PDE6B 5158 HP:0001347 Hyperreflexia ORPHANET:791 PDE6B 5158 HP:0100689 Decreased corneal thickness ORPHANET:791 PDE6B 5158 HP:0000405 Conductive hearing impairment ORPHANET:791 PDE6B 5158 HP:0100543 Cognitive impairment ORPHANET:791 PDE6B 5158 HP:0000987 Atypical scarring of skin ORPHANET:791 PDE6B 5158 HP:0000035 Abnormality of the testis ORPHANET:791 PDE6B 5158 HP:0000648 Optic atrophy ORPHANET:791 PDE6B 5158 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 PDE6B 5158 HP:0000597 Ophthalmoparesis ORPHANET:791 PDE6B 5158 HP:0005978 Type II diabetes mellitus ORPHANET:791 PDE6B 5158 HP:0000463 Anteverted nares ORPHANET:791 PDE6B 5158 HP:0000407 Sensorineural hearing impairment ORPHANET:791 PDE6B 5158 HP:0001513 Obesity ORPHANET:791 PDE6B 5158 HP:0000842 Hyperinsulinemia ORPHANET:791 PDE6B 5158 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 PDE6B 5158 HP:0000662 Night blindness ORPHANET:791 PDE6B 5158 HP:0000639 Nystagmus ORPHANET:791 PDE6B 5158 HP:0000431 Wide nasal bridge ORPHANET:791 PDE6B 5158 HP:0000512 Abnormal electroretinogram ORPHANET:791 PDE6B 5158 HP:0008736 Hypoplasia of penis ORPHANET:791 PDE6B 5158 HP:0000501 Glaucoma ORPHANET:791 PDE6B 5158 HP:0000518 Cataract ORPHANET:791 PDE6B 5158 HP:0000613 Photophobia ORPHANET:791 PDE6B 5158 HP:0000505 Visual impairment ORPHANET:791 C8ORF37 157657 HP:0001347 Hyperreflexia ORPHANET:791 C8ORF37 157657 HP:0100689 Decreased corneal thickness ORPHANET:791 C8ORF37 157657 HP:0000405 Conductive hearing impairment ORPHANET:791 C8ORF37 157657 HP:0100543 Cognitive impairment ORPHANET:791 C8ORF37 157657 HP:0000987 Atypical scarring of skin ORPHANET:791 C8ORF37 157657 HP:0000035 Abnormality of the testis ORPHANET:791 C8ORF37 157657 HP:0000648 Optic atrophy ORPHANET:791 C8ORF37 157657 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 C8ORF37 157657 HP:0000597 Ophthalmoparesis ORPHANET:791 C8ORF37 157657 HP:0005978 Type II diabetes mellitus ORPHANET:791 C8ORF37 157657 HP:0000463 Anteverted nares ORPHANET:791 C8ORF37 157657 HP:0000407 Sensorineural hearing impairment ORPHANET:791 C8ORF37 157657 HP:0001513 Obesity ORPHANET:791 C8ORF37 157657 HP:0000842 Hyperinsulinemia ORPHANET:791 C8ORF37 157657 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 C8ORF37 157657 HP:0000662 Night blindness ORPHANET:791 C8ORF37 157657 HP:0000639 Nystagmus ORPHANET:791 C8ORF37 157657 HP:0000431 Wide nasal bridge ORPHANET:791 C8ORF37 157657 HP:0000512 Abnormal electroretinogram ORPHANET:791 C8ORF37 157657 HP:0008736 Hypoplasia of penis ORPHANET:791 C8ORF37 157657 HP:0000501 Glaucoma ORPHANET:791 C8ORF37 157657 HP:0000518 Cataract ORPHANET:791 C8ORF37 157657 HP:0000613 Photophobia ORPHANET:791 C8ORF37 157657 HP:0000505 Visual impairment ORPHANET:791 CA4 762 HP:0001347 Hyperreflexia ORPHANET:791 CA4 762 HP:0100689 Decreased corneal thickness ORPHANET:791 CA4 762 HP:0000405 Conductive hearing impairment ORPHANET:791 CA4 762 HP:0100543 Cognitive impairment ORPHANET:791 CA4 762 HP:0000987 Atypical scarring of skin ORPHANET:791 CA4 762 HP:0000035 Abnormality of the testis ORPHANET:791 CA4 762 HP:0000648 Optic atrophy ORPHANET:791 CA4 762 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 CA4 762 HP:0000597 Ophthalmoparesis ORPHANET:791 CA4 762 HP:0005978 Type II diabetes mellitus ORPHANET:791 CA4 762 HP:0000463 Anteverted nares ORPHANET:791 CA4 762 HP:0000407 Sensorineural hearing impairment ORPHANET:791 CA4 762 HP:0001513 Obesity ORPHANET:791 CA4 762 HP:0000842 Hyperinsulinemia ORPHANET:791 CA4 762 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 CA4 762 HP:0000662 Night blindness ORPHANET:791 CA4 762 HP:0000639 Nystagmus ORPHANET:791 CA4 762 HP:0000431 Wide nasal bridge ORPHANET:791 CA4 762 HP:0000512 Abnormal electroretinogram ORPHANET:791 CA4 762 HP:0008736 Hypoplasia of penis ORPHANET:791 CA4 762 HP:0000501 Glaucoma ORPHANET:791 CA4 762 HP:0000518 Cataract ORPHANET:791 CA4 762 HP:0000613 Photophobia ORPHANET:791 CA4 762 HP:0000505 Visual impairment ORPHANET:791 TOPORS 10210 HP:0001347 Hyperreflexia ORPHANET:791 TOPORS 10210 HP:0100689 Decreased corneal thickness ORPHANET:791 TOPORS 10210 HP:0000405 Conductive hearing impairment ORPHANET:791 TOPORS 10210 HP:0100543 Cognitive impairment ORPHANET:791 TOPORS 10210 HP:0000987 Atypical scarring of skin ORPHANET:791 TOPORS 10210 HP:0000035 Abnormality of the testis ORPHANET:791 TOPORS 10210 HP:0000648 Optic atrophy ORPHANET:791 TOPORS 10210 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 TOPORS 10210 HP:0000597 Ophthalmoparesis ORPHANET:791 TOPORS 10210 HP:0005978 Type II diabetes mellitus ORPHANET:791 TOPORS 10210 HP:0000463 Anteverted nares ORPHANET:791 TOPORS 10210 HP:0000407 Sensorineural hearing impairment ORPHANET:791 TOPORS 10210 HP:0001513 Obesity ORPHANET:791 TOPORS 10210 HP:0000842 Hyperinsulinemia ORPHANET:791 TOPORS 10210 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 TOPORS 10210 HP:0000662 Night blindness ORPHANET:791 TOPORS 10210 HP:0000639 Nystagmus ORPHANET:791 TOPORS 10210 HP:0000431 Wide nasal bridge ORPHANET:791 TOPORS 10210 HP:0000512 Abnormal electroretinogram ORPHANET:791 TOPORS 10210 HP:0008736 Hypoplasia of penis ORPHANET:791 TOPORS 10210 HP:0000501 Glaucoma ORPHANET:791 TOPORS 10210 HP:0000518 Cataract ORPHANET:791 TOPORS 10210 HP:0000613 Photophobia ORPHANET:791 TOPORS 10210 HP:0000505 Visual impairment ORPHANET:791 PRPF3 9129 HP:0001347 Hyperreflexia ORPHANET:791 PRPF3 9129 HP:0100689 Decreased corneal thickness ORPHANET:791 PRPF3 9129 HP:0000405 Conductive hearing impairment ORPHANET:791 PRPF3 9129 HP:0100543 Cognitive impairment ORPHANET:791 PRPF3 9129 HP:0000987 Atypical scarring of skin ORPHANET:791 PRPF3 9129 HP:0000035 Abnormality of the testis ORPHANET:791 PRPF3 9129 HP:0000648 Optic atrophy ORPHANET:791 PRPF3 9129 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 PRPF3 9129 HP:0000597 Ophthalmoparesis ORPHANET:791 PRPF3 9129 HP:0005978 Type II diabetes mellitus ORPHANET:791 PRPF3 9129 HP:0000463 Anteverted nares ORPHANET:791 PRPF3 9129 HP:0000407 Sensorineural hearing impairment ORPHANET:791 PRPF3 9129 HP:0001513 Obesity ORPHANET:791 PRPF3 9129 HP:0000842 Hyperinsulinemia ORPHANET:791 PRPF3 9129 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 PRPF3 9129 HP:0000662 Night blindness ORPHANET:791 PRPF3 9129 HP:0000639 Nystagmus ORPHANET:791 PRPF3 9129 HP:0000431 Wide nasal bridge ORPHANET:791 PRPF3 9129 HP:0000512 Abnormal electroretinogram ORPHANET:791 PRPF3 9129 HP:0008736 Hypoplasia of penis ORPHANET:791 PRPF3 9129 HP:0000501 Glaucoma ORPHANET:791 PRPF3 9129 HP:0000518 Cataract ORPHANET:791 PRPF3 9129 HP:0000613 Photophobia ORPHANET:791 PRPF3 9129 HP:0000505 Visual impairment ORPHANET:791 PRPF4 9128 HP:0001347 Hyperreflexia ORPHANET:791 PRPF4 9128 HP:0100689 Decreased corneal thickness ORPHANET:791 PRPF4 9128 HP:0000405 Conductive hearing impairment ORPHANET:791 PRPF4 9128 HP:0100543 Cognitive impairment ORPHANET:791 PRPF4 9128 HP:0000987 Atypical scarring of skin ORPHANET:791 PRPF4 9128 HP:0000035 Abnormality of the testis ORPHANET:791 PRPF4 9128 HP:0000648 Optic atrophy ORPHANET:791 PRPF4 9128 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 PRPF4 9128 HP:0000597 Ophthalmoparesis ORPHANET:791 PRPF4 9128 HP:0005978 Type II diabetes mellitus ORPHANET:791 PRPF4 9128 HP:0000463 Anteverted nares ORPHANET:791 PRPF4 9128 HP:0000407 Sensorineural hearing impairment ORPHANET:791 PRPF4 9128 HP:0001513 Obesity ORPHANET:791 PRPF4 9128 HP:0000842 Hyperinsulinemia ORPHANET:791 PRPF4 9128 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 PRPF4 9128 HP:0000662 Night blindness ORPHANET:791 PRPF4 9128 HP:0000639 Nystagmus ORPHANET:791 PRPF4 9128 HP:0000431 Wide nasal bridge ORPHANET:791 PRPF4 9128 HP:0000512 Abnormal electroretinogram ORPHANET:791 PRPF4 9128 HP:0008736 Hypoplasia of penis ORPHANET:791 PRPF4 9128 HP:0000501 Glaucoma ORPHANET:791 PRPF4 9128 HP:0000518 Cataract ORPHANET:791 PRPF4 9128 HP:0000613 Photophobia ORPHANET:791 PRPF4 9128 HP:0000505 Visual impairment ORPHANET:791 RLBP1 6017 HP:0001347 Hyperreflexia ORPHANET:791 RLBP1 6017 HP:0100689 Decreased corneal thickness ORPHANET:791 RLBP1 6017 HP:0000405 Conductive hearing impairment ORPHANET:791 RLBP1 6017 HP:0100543 Cognitive impairment ORPHANET:791 RLBP1 6017 HP:0000987 Atypical scarring of skin ORPHANET:791 RLBP1 6017 HP:0000035 Abnormality of the testis ORPHANET:791 RLBP1 6017 HP:0000648 Optic atrophy ORPHANET:791 RLBP1 6017 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 RLBP1 6017 HP:0000597 Ophthalmoparesis ORPHANET:791 RLBP1 6017 HP:0005978 Type II diabetes mellitus ORPHANET:791 RLBP1 6017 HP:0000463 Anteverted nares ORPHANET:791 RLBP1 6017 HP:0000407 Sensorineural hearing impairment ORPHANET:791 RLBP1 6017 HP:0001513 Obesity ORPHANET:791 RLBP1 6017 HP:0000842 Hyperinsulinemia ORPHANET:791 RLBP1 6017 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 RLBP1 6017 HP:0000662 Night blindness ORPHANET:791 RLBP1 6017 HP:0000639 Nystagmus ORPHANET:791 RLBP1 6017 HP:0000431 Wide nasal bridge ORPHANET:791 RLBP1 6017 HP:0000512 Abnormal electroretinogram ORPHANET:791 RLBP1 6017 HP:0008736 Hypoplasia of penis ORPHANET:791 RLBP1 6017 HP:0000501 Glaucoma ORPHANET:791 RLBP1 6017 HP:0000518 Cataract ORPHANET:791 RLBP1 6017 HP:0000613 Photophobia ORPHANET:791 RLBP1 6017 HP:0000505 Visual impairment ORPHANET:791 TTC8 123016 HP:0001347 Hyperreflexia ORPHANET:791 TTC8 123016 HP:0100689 Decreased corneal thickness ORPHANET:791 TTC8 123016 HP:0000405 Conductive hearing impairment ORPHANET:791 TTC8 123016 HP:0100543 Cognitive impairment ORPHANET:791 TTC8 123016 HP:0000987 Atypical scarring of skin ORPHANET:791 TTC8 123016 HP:0000035 Abnormality of the testis ORPHANET:791 TTC8 123016 HP:0000648 Optic atrophy ORPHANET:791 TTC8 123016 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 TTC8 123016 HP:0000597 Ophthalmoparesis ORPHANET:791 TTC8 123016 HP:0005978 Type II diabetes mellitus ORPHANET:791 TTC8 123016 HP:0000463 Anteverted nares ORPHANET:791 TTC8 123016 HP:0000407 Sensorineural hearing impairment ORPHANET:791 TTC8 123016 HP:0001513 Obesity ORPHANET:791 TTC8 123016 HP:0000842 Hyperinsulinemia ORPHANET:791 TTC8 123016 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 TTC8 123016 HP:0000662 Night blindness ORPHANET:791 TTC8 123016 HP:0000639 Nystagmus ORPHANET:791 TTC8 123016 HP:0000431 Wide nasal bridge ORPHANET:791 TTC8 123016 HP:0000512 Abnormal electroretinogram ORPHANET:791 TTC8 123016 HP:0008736 Hypoplasia of penis ORPHANET:791 TTC8 123016 HP:0000501 Glaucoma ORPHANET:791 TTC8 123016 HP:0000518 Cataract ORPHANET:791 TTC8 123016 HP:0000613 Photophobia ORPHANET:791 TTC8 123016 HP:0000505 Visual impairment ORPHANET:791 RBP3 5949 HP:0001347 Hyperreflexia ORPHANET:791 RBP3 5949 HP:0100689 Decreased corneal thickness ORPHANET:791 RBP3 5949 HP:0000405 Conductive hearing impairment ORPHANET:791 RBP3 5949 HP:0100543 Cognitive impairment ORPHANET:791 RBP3 5949 HP:0000987 Atypical scarring of skin ORPHANET:791 RBP3 5949 HP:0000035 Abnormality of the testis ORPHANET:791 RBP3 5949 HP:0000648 Optic atrophy ORPHANET:791 RBP3 5949 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 RBP3 5949 HP:0000597 Ophthalmoparesis ORPHANET:791 RBP3 5949 HP:0005978 Type II diabetes mellitus ORPHANET:791 RBP3 5949 HP:0000463 Anteverted nares ORPHANET:791 RBP3 5949 HP:0000407 Sensorineural hearing impairment ORPHANET:791 RBP3 5949 HP:0001513 Obesity ORPHANET:791 RBP3 5949 HP:0000842 Hyperinsulinemia ORPHANET:791 RBP3 5949 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 RBP3 5949 HP:0000662 Night blindness ORPHANET:791 RBP3 5949 HP:0000639 Nystagmus ORPHANET:791 RBP3 5949 HP:0000431 Wide nasal bridge ORPHANET:791 RBP3 5949 HP:0000512 Abnormal electroretinogram ORPHANET:791 RBP3 5949 HP:0008736 Hypoplasia of penis ORPHANET:791 RBP3 5949 HP:0000501 Glaucoma ORPHANET:791 RBP3 5949 HP:0000518 Cataract ORPHANET:791 RBP3 5949 HP:0000613 Photophobia ORPHANET:791 RBP3 5949 HP:0000505 Visual impairment ORPHANET:791 IMPDH1 3614 HP:0001347 Hyperreflexia ORPHANET:791 IMPDH1 3614 HP:0100689 Decreased corneal thickness ORPHANET:791 IMPDH1 3614 HP:0000405 Conductive hearing impairment ORPHANET:791 IMPDH1 3614 HP:0100543 Cognitive impairment ORPHANET:791 IMPDH1 3614 HP:0000987 Atypical scarring of skin ORPHANET:791 IMPDH1 3614 HP:0000035 Abnormality of the testis ORPHANET:791 IMPDH1 3614 HP:0000648 Optic atrophy ORPHANET:791 IMPDH1 3614 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 IMPDH1 3614 HP:0000597 Ophthalmoparesis ORPHANET:791 IMPDH1 3614 HP:0005978 Type II diabetes mellitus ORPHANET:791 IMPDH1 3614 HP:0000463 Anteverted nares ORPHANET:791 IMPDH1 3614 HP:0000407 Sensorineural hearing impairment ORPHANET:791 IMPDH1 3614 HP:0001513 Obesity ORPHANET:791 IMPDH1 3614 HP:0000842 Hyperinsulinemia ORPHANET:791 IMPDH1 3614 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 IMPDH1 3614 HP:0000662 Night blindness ORPHANET:791 IMPDH1 3614 HP:0000639 Nystagmus ORPHANET:791 IMPDH1 3614 HP:0000431 Wide nasal bridge ORPHANET:791 IMPDH1 3614 HP:0000512 Abnormal electroretinogram ORPHANET:791 IMPDH1 3614 HP:0008736 Hypoplasia of penis ORPHANET:791 IMPDH1 3614 HP:0000501 Glaucoma ORPHANET:791 IMPDH1 3614 HP:0000518 Cataract ORPHANET:791 IMPDH1 3614 HP:0000613 Photophobia ORPHANET:791 IMPDH1 3614 HP:0000505 Visual impairment ORPHANET:791 BEST1 7439 HP:0001347 Hyperreflexia ORPHANET:791 BEST1 7439 HP:0100689 Decreased corneal thickness ORPHANET:791 BEST1 7439 HP:0000405 Conductive hearing impairment ORPHANET:791 BEST1 7439 HP:0100543 Cognitive impairment ORPHANET:791 BEST1 7439 HP:0000987 Atypical scarring of skin ORPHANET:791 BEST1 7439 HP:0000035 Abnormality of the testis ORPHANET:791 BEST1 7439 HP:0000648 Optic atrophy ORPHANET:791 BEST1 7439 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 BEST1 7439 HP:0000597 Ophthalmoparesis ORPHANET:791 BEST1 7439 HP:0005978 Type II diabetes mellitus ORPHANET:791 BEST1 7439 HP:0000463 Anteverted nares ORPHANET:791 BEST1 7439 HP:0000407 Sensorineural hearing impairment ORPHANET:791 BEST1 7439 HP:0001513 Obesity ORPHANET:791 BEST1 7439 HP:0000842 Hyperinsulinemia ORPHANET:791 BEST1 7439 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 BEST1 7439 HP:0000662 Night blindness ORPHANET:791 BEST1 7439 HP:0000639 Nystagmus ORPHANET:791 BEST1 7439 HP:0000431 Wide nasal bridge ORPHANET:791 BEST1 7439 HP:0000512 Abnormal electroretinogram ORPHANET:791 BEST1 7439 HP:0008736 Hypoplasia of penis ORPHANET:791 BEST1 7439 HP:0000501 Glaucoma ORPHANET:791 BEST1 7439 HP:0000518 Cataract ORPHANET:791 BEST1 7439 HP:0000613 Photophobia ORPHANET:791 BEST1 7439 HP:0000505 Visual impairment ORPHANET:791 PROM1 8842 HP:0001347 Hyperreflexia ORPHANET:791 PROM1 8842 HP:0100689 Decreased corneal thickness ORPHANET:791 PROM1 8842 HP:0000405 Conductive hearing impairment ORPHANET:791 PROM1 8842 HP:0100543 Cognitive impairment ORPHANET:791 PROM1 8842 HP:0000987 Atypical scarring of skin ORPHANET:791 PROM1 8842 HP:0000035 Abnormality of the testis ORPHANET:791 PROM1 8842 HP:0000648 Optic atrophy ORPHANET:791 PROM1 8842 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 PROM1 8842 HP:0000597 Ophthalmoparesis ORPHANET:791 PROM1 8842 HP:0005978 Type II diabetes mellitus ORPHANET:791 PROM1 8842 HP:0000463 Anteverted nares ORPHANET:791 PROM1 8842 HP:0000407 Sensorineural hearing impairment ORPHANET:791 PROM1 8842 HP:0001513 Obesity ORPHANET:791 PROM1 8842 HP:0000842 Hyperinsulinemia ORPHANET:791 PROM1 8842 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 PROM1 8842 HP:0000662 Night blindness ORPHANET:791 PROM1 8842 HP:0000639 Nystagmus ORPHANET:791 PROM1 8842 HP:0000431 Wide nasal bridge ORPHANET:791 PROM1 8842 HP:0000512 Abnormal electroretinogram ORPHANET:791 PROM1 8842 HP:0008736 Hypoplasia of penis ORPHANET:791 PROM1 8842 HP:0000501 Glaucoma ORPHANET:791 PROM1 8842 HP:0000518 Cataract ORPHANET:791 PROM1 8842 HP:0000613 Photophobia ORPHANET:791 PROM1 8842 HP:0000505 Visual impairment ORPHANET:791 ARL2BP 23568 HP:0001347 Hyperreflexia ORPHANET:791 ARL2BP 23568 HP:0100689 Decreased corneal thickness ORPHANET:791 ARL2BP 23568 HP:0000405 Conductive hearing impairment ORPHANET:791 ARL2BP 23568 HP:0100543 Cognitive impairment ORPHANET:791 ARL2BP 23568 HP:0000987 Atypical scarring of skin ORPHANET:791 ARL2BP 23568 HP:0000035 Abnormality of the testis ORPHANET:791 ARL2BP 23568 HP:0000648 Optic atrophy ORPHANET:791 ARL2BP 23568 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 ARL2BP 23568 HP:0000597 Ophthalmoparesis ORPHANET:791 ARL2BP 23568 HP:0005978 Type II diabetes mellitus ORPHANET:791 ARL2BP 23568 HP:0000463 Anteverted nares ORPHANET:791 ARL2BP 23568 HP:0000407 Sensorineural hearing impairment ORPHANET:791 ARL2BP 23568 HP:0001513 Obesity ORPHANET:791 ARL2BP 23568 HP:0000842 Hyperinsulinemia ORPHANET:791 ARL2BP 23568 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 ARL2BP 23568 HP:0000662 Night blindness ORPHANET:791 ARL2BP 23568 HP:0000639 Nystagmus ORPHANET:791 ARL2BP 23568 HP:0000431 Wide nasal bridge ORPHANET:791 ARL2BP 23568 HP:0000512 Abnormal electroretinogram ORPHANET:791 ARL2BP 23568 HP:0008736 Hypoplasia of penis ORPHANET:791 ARL2BP 23568 HP:0000501 Glaucoma ORPHANET:791 ARL2BP 23568 HP:0000518 Cataract ORPHANET:791 ARL2BP 23568 HP:0000613 Photophobia ORPHANET:791 ARL2BP 23568 HP:0000505 Visual impairment ORPHANET:791 RDH12 145226 HP:0001347 Hyperreflexia ORPHANET:791 RDH12 145226 HP:0100689 Decreased corneal thickness ORPHANET:791 RDH12 145226 HP:0000405 Conductive hearing impairment ORPHANET:791 RDH12 145226 HP:0100543 Cognitive impairment ORPHANET:791 RDH12 145226 HP:0000987 Atypical scarring of skin ORPHANET:791 RDH12 145226 HP:0000035 Abnormality of the testis ORPHANET:791 RDH12 145226 HP:0000648 Optic atrophy ORPHANET:791 RDH12 145226 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 RDH12 145226 HP:0000597 Ophthalmoparesis ORPHANET:791 RDH12 145226 HP:0005978 Type II diabetes mellitus ORPHANET:791 RDH12 145226 HP:0000463 Anteverted nares ORPHANET:791 RDH12 145226 HP:0000407 Sensorineural hearing impairment ORPHANET:791 RDH12 145226 HP:0001513 Obesity ORPHANET:791 RDH12 145226 HP:0000842 Hyperinsulinemia ORPHANET:791 RDH12 145226 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 RDH12 145226 HP:0000662 Night blindness ORPHANET:791 RDH12 145226 HP:0000639 Nystagmus ORPHANET:791 RDH12 145226 HP:0000431 Wide nasal bridge ORPHANET:791 RDH12 145226 HP:0000512 Abnormal electroretinogram ORPHANET:791 RDH12 145226 HP:0008736 Hypoplasia of penis ORPHANET:791 RDH12 145226 HP:0000501 Glaucoma ORPHANET:791 RDH12 145226 HP:0000518 Cataract ORPHANET:791 RDH12 145226 HP:0000613 Photophobia ORPHANET:791 RDH12 145226 HP:0000505 Visual impairment ORPHANET:791 PDE6A 5145 HP:0001347 Hyperreflexia ORPHANET:791 PDE6A 5145 HP:0100689 Decreased corneal thickness ORPHANET:791 PDE6A 5145 HP:0000405 Conductive hearing impairment ORPHANET:791 PDE6A 5145 HP:0100543 Cognitive impairment ORPHANET:791 PDE6A 5145 HP:0000987 Atypical scarring of skin ORPHANET:791 PDE6A 5145 HP:0000035 Abnormality of the testis ORPHANET:791 PDE6A 5145 HP:0000648 Optic atrophy ORPHANET:791 PDE6A 5145 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 PDE6A 5145 HP:0000597 Ophthalmoparesis ORPHANET:791 PDE6A 5145 HP:0005978 Type II diabetes mellitus ORPHANET:791 PDE6A 5145 HP:0000463 Anteverted nares ORPHANET:791 PDE6A 5145 HP:0000407 Sensorineural hearing impairment ORPHANET:791 PDE6A 5145 HP:0001513 Obesity ORPHANET:791 PDE6A 5145 HP:0000842 Hyperinsulinemia ORPHANET:791 PDE6A 5145 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 PDE6A 5145 HP:0000662 Night blindness ORPHANET:791 PDE6A 5145 HP:0000639 Nystagmus ORPHANET:791 PDE6A 5145 HP:0000431 Wide nasal bridge ORPHANET:791 PDE6A 5145 HP:0000512 Abnormal electroretinogram ORPHANET:791 PDE6A 5145 HP:0008736 Hypoplasia of penis ORPHANET:791 PDE6A 5145 HP:0000501 Glaucoma ORPHANET:791 PDE6A 5145 HP:0000518 Cataract ORPHANET:791 PDE6A 5145 HP:0000613 Photophobia ORPHANET:791 PDE6A 5145 HP:0000505 Visual impairment ORPHANET:791 OFD1 8481 HP:0001347 Hyperreflexia ORPHANET:791 OFD1 8481 HP:0100689 Decreased corneal thickness ORPHANET:791 OFD1 8481 HP:0000405 Conductive hearing impairment ORPHANET:791 OFD1 8481 HP:0100543 Cognitive impairment ORPHANET:791 OFD1 8481 HP:0000987 Atypical scarring of skin ORPHANET:791 OFD1 8481 HP:0000035 Abnormality of the testis ORPHANET:791 OFD1 8481 HP:0000648 Optic atrophy ORPHANET:791 OFD1 8481 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 OFD1 8481 HP:0000597 Ophthalmoparesis ORPHANET:791 OFD1 8481 HP:0005978 Type II diabetes mellitus ORPHANET:791 OFD1 8481 HP:0000463 Anteverted nares ORPHANET:791 OFD1 8481 HP:0000407 Sensorineural hearing impairment ORPHANET:791 OFD1 8481 HP:0001513 Obesity ORPHANET:791 OFD1 8481 HP:0000842 Hyperinsulinemia ORPHANET:791 OFD1 8481 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 OFD1 8481 HP:0000662 Night blindness ORPHANET:791 OFD1 8481 HP:0000639 Nystagmus ORPHANET:791 OFD1 8481 HP:0000431 Wide nasal bridge ORPHANET:791 OFD1 8481 HP:0000512 Abnormal electroretinogram ORPHANET:791 OFD1 8481 HP:0008736 Hypoplasia of penis ORPHANET:791 OFD1 8481 HP:0000501 Glaucoma ORPHANET:791 OFD1 8481 HP:0000518 Cataract ORPHANET:791 OFD1 8481 HP:0000613 Photophobia ORPHANET:791 OFD1 8481 HP:0000505 Visual impairment ORPHANET:791 PDE6G 5148 HP:0001347 Hyperreflexia ORPHANET:791 PDE6G 5148 HP:0100689 Decreased corneal thickness ORPHANET:791 PDE6G 5148 HP:0000405 Conductive hearing impairment ORPHANET:791 PDE6G 5148 HP:0100543 Cognitive impairment ORPHANET:791 PDE6G 5148 HP:0000987 Atypical scarring of skin ORPHANET:791 PDE6G 5148 HP:0000035 Abnormality of the testis ORPHANET:791 PDE6G 5148 HP:0000648 Optic atrophy ORPHANET:791 PDE6G 5148 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 PDE6G 5148 HP:0000597 Ophthalmoparesis ORPHANET:791 PDE6G 5148 HP:0005978 Type II diabetes mellitus ORPHANET:791 PDE6G 5148 HP:0000463 Anteverted nares ORPHANET:791 PDE6G 5148 HP:0000407 Sensorineural hearing impairment ORPHANET:791 PDE6G 5148 HP:0001513 Obesity ORPHANET:791 PDE6G 5148 HP:0000842 Hyperinsulinemia ORPHANET:791 PDE6G 5148 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 PDE6G 5148 HP:0000662 Night blindness ORPHANET:791 PDE6G 5148 HP:0000639 Nystagmus ORPHANET:791 PDE6G 5148 HP:0000431 Wide nasal bridge ORPHANET:791 PDE6G 5148 HP:0000512 Abnormal electroretinogram ORPHANET:791 PDE6G 5148 HP:0008736 Hypoplasia of penis ORPHANET:791 PDE6G 5148 HP:0000501 Glaucoma ORPHANET:791 PDE6G 5148 HP:0000518 Cataract ORPHANET:791 PDE6G 5148 HP:0000613 Photophobia ORPHANET:791 PDE6G 5148 HP:0000505 Visual impairment ORPHANET:791 CDHR1 92211 HP:0001347 Hyperreflexia ORPHANET:791 CDHR1 92211 HP:0100689 Decreased corneal thickness ORPHANET:791 CDHR1 92211 HP:0000405 Conductive hearing impairment ORPHANET:791 CDHR1 92211 HP:0100543 Cognitive impairment ORPHANET:791 CDHR1 92211 HP:0000987 Atypical scarring of skin ORPHANET:791 CDHR1 92211 HP:0000035 Abnormality of the testis ORPHANET:791 CDHR1 92211 HP:0000648 Optic atrophy ORPHANET:791 CDHR1 92211 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 CDHR1 92211 HP:0000597 Ophthalmoparesis ORPHANET:791 CDHR1 92211 HP:0005978 Type II diabetes mellitus ORPHANET:791 CDHR1 92211 HP:0000463 Anteverted nares ORPHANET:791 CDHR1 92211 HP:0000407 Sensorineural hearing impairment ORPHANET:791 CDHR1 92211 HP:0001513 Obesity ORPHANET:791 CDHR1 92211 HP:0000842 Hyperinsulinemia ORPHANET:791 CDHR1 92211 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 CDHR1 92211 HP:0000662 Night blindness ORPHANET:791 CDHR1 92211 HP:0000639 Nystagmus ORPHANET:791 CDHR1 92211 HP:0000431 Wide nasal bridge ORPHANET:791 CDHR1 92211 HP:0000512 Abnormal electroretinogram ORPHANET:791 CDHR1 92211 HP:0008736 Hypoplasia of penis ORPHANET:791 CDHR1 92211 HP:0000501 Glaucoma ORPHANET:791 CDHR1 92211 HP:0000518 Cataract ORPHANET:791 CDHR1 92211 HP:0000613 Photophobia ORPHANET:791 CDHR1 92211 HP:0000505 Visual impairment ORPHANET:791 CRB1 23418 HP:0001347 Hyperreflexia ORPHANET:791 CRB1 23418 HP:0100689 Decreased corneal thickness ORPHANET:791 CRB1 23418 HP:0000405 Conductive hearing impairment ORPHANET:791 CRB1 23418 HP:0100543 Cognitive impairment ORPHANET:791 CRB1 23418 HP:0000987 Atypical scarring of skin ORPHANET:791 CRB1 23418 HP:0000035 Abnormality of the testis ORPHANET:791 CRB1 23418 HP:0000648 Optic atrophy ORPHANET:791 CRB1 23418 HP:0007703 Abnormal retinal pigmentation ORPHANET:791 CRB1 23418 HP:0000597 Ophthalmoparesis ORPHANET:791 CRB1 23418 HP:0005978 Type II diabetes mellitus ORPHANET:791 CRB1 23418 HP:0000463 Anteverted nares ORPHANET:791 CRB1 23418 HP:0000407 Sensorineural hearing impairment ORPHANET:791 CRB1 23418 HP:0001513 Obesity ORPHANET:791 CRB1 23418 HP:0000842 Hyperinsulinemia ORPHANET:791 CRB1 23418 HP:0008046 Abnormality of the retinal vasculature ORPHANET:791 CRB1 23418 HP:0000662 Night blindness ORPHANET:791 CRB1 23418 HP:0000639 Nystagmus ORPHANET:791 CRB1 23418 HP:0000431 Wide nasal bridge ORPHANET:791 CRB1 23418 HP:0000512 Abnormal electroretinogram ORPHANET:791 CRB1 23418 HP:0008736 Hypoplasia of penis ORPHANET:791 CRB1 23418 HP:0000501 Glaucoma ORPHANET:791 CRB1 23418 HP:0000518 Cataract ORPHANET:791 CRB1 23418 HP:0000613 Photophobia ORPHANET:791 CRB1 23418 HP:0000505 Visual impairment OMIM:113650 EYA1 2138 HP:0100274 Gustatory lacrimation OMIM:113650 EYA1 2138 HP:0000218 High palate OMIM:113650 EYA1 2138 HP:0009795 Branchial fistula OMIM:113650 EYA1 2138 HP:0000275 Narrow face OMIM:113650 EYA1 2138 HP:0008586 Hypoplasia of the cochlea OMIM:113650 EYA1 2138 HP:0002566 Intestinal malrotation OMIM:113650 EYA1 2138 HP:0007925 Lacrimal duct aplasia OMIM:113650 EYA1 2138 HP:0004712 Renal malrotation OMIM:113650 EYA1 2138 HP:0010628 Facial palsy OMIM:113650 EYA1 2138 HP:0003829 Incomplete penetrance OMIM:113650 EYA1 2138 HP:0000113 Polycystic kidney dysplasia OMIM:113650 EYA1 2138 HP:0004742 Abnormality of the renal collecting system OMIM:113650 EYA1 2138 HP:0000376 Incomplete partition of the cochlea type II OMIM:113650 EYA1 2138 HP:0002060 Abnormality of the cerebrum OMIM:113650 EYA1 2138 HP:0000402 Stenosis of the external auditory canal OMIM:113650 EYA1 2138 HP:0000076 Vesicoureteral reflux OMIM:113650 EYA1 2138 HP:0000110 Renal dysplasia OMIM:113650 EYA1 2138 HP:0009797 Cholesteatoma OMIM:113650 EYA1 2138 HP:0000193 Bifid uvula OMIM:113650 EYA1 2138 HP:0003828 Variable expressivity OMIM:113650 EYA1 2138 HP:0004467 Preauricular pit OMIM:113650 EYA1 2138 HP:0000006 Autosomal dominant inheritance OMIM:113650 EYA1 2138 HP:0000410 Mixed hearing impairment OMIM:113650 EYA1 2138 HP:0009796 Branchial cyst OMIM:113650 EYA1 2138 HP:0011094 Overbite OMIM:113650 EYA1 2138 HP:0001425 Heterogeneous OMIM:113650 EYA1 2138 HP:0000378 Cupped ear OMIM:113650 EYA1 2138 HP:0008551 Microtia OMIM:113650 EYA1 2138 HP:0007678 Lacrimal duct stenosis OMIM:113650 EYA1 2138 HP:0000276 Long face OMIM:113650 EYA1 2138 HP:0000691 Microdontia OMIM:113650 EYA1 2138 HP:0001374 Congenital hip dislocation OMIM:113650 EYA1 2138 HP:0004458 Dilatated internal auditory canal OMIM:113650 EYA1 2138 HP:0009798 Euthyroid goiter OMIM:113650 EYA1 2138 HP:0000175 Cleft palate OMIM:113650 EYA1 2138 HP:0000799 Renal steatosis OMIM:113650 EYA1 2138 HP:0000104 Renal agenesis OMIM:113650 EYA1 2138 HP:0000384 Preauricular skin tag OMIM:615522 ENPP1 5167 HP:0000962 Hyperkeratosis OMIM:615522 ENPP1 5167 HP:0000006 Autosomal dominant inheritance OMIM:614868 STK4 6789 HP:0004429 Recurrent viral infections OMIM:614868 STK4 6789 HP:0000007 Autosomal recessive inheritance OMIM:614868 STK4 6789 HP:0001875 Neutropenia OMIM:614868 STK4 6789 HP:0200043 Verrucae OMIM:614868 STK4 6789 HP:0002721 Immunodeficiency OMIM:614868 STK4 6789 HP:0002718 Recurrent bacterial infections OMIM:614868 STK4 6789 HP:0001631 Defect in the atrial septum OMIM:614868 STK4 6789 HP:0001888 Lymphopenia OMIM:614868 STK4 6789 HP:0002841 Recurrent fungal infections OMIM:300673 MECP2 4204 HP:0002126 Polymicrogyria OMIM:300673 MECP2 4204 HP:0003577 Congenital onset OMIM:300673 MECP2 4204 HP:0008936 Muscular hypotonia of the trunk OMIM:300673 MECP2 4204 HP:0001298 Encephalopathy OMIM:300673 MECP2 4204 HP:0001250 Seizures OMIM:300673 MECP2 4204 HP:0000253 Progressive microcephaly OMIM:300673 MECP2 4204 HP:0001263 Global developmental delay OMIM:300673 MECP2 4204 HP:0001347 Hyperreflexia OMIM:300673 MECP2 4204 HP:0002063 Rigidity OMIM:300673 MECP2 4204 HP:0008872 Feeding difficulties in infancy OMIM:300673 MECP2 4204 HP:0002093 Respiratory insufficiency OMIM:300673 MECP2 4204 HP:0007110 Central hypoventilation OMIM:300673 MECP2 4204 HP:0002104 Apnea OMIM:300673 MECP2 4204 HP:0001508 Failure to thrive OMIM:300673 MECP2 4204 HP:0002020 Gastroesophageal reflux OMIM:300673 MECP2 4204 HP:0006887 Intellectual disability, progressive OMIM:300673 MECP2 4204 HP:0001336 Myoclonus OMIM:300673 MECP2 4204 HP:0001419 X-linked recessive inheritance OMIM:300673 MECP2 4204 HP:0010864 Intellectual disability, severe OMIM:300673 MECP2 4204 HP:0002353 EEG abnormality OMIM:615973 POC1B 282809 HP:0000639 Nystagmus OMIM:615973 POC1B 282809 HP:0000551 Abnormality of color vision OMIM:615973 POC1B 282809 HP:0000505 Visual impairment OMIM:615973 POC1B 282809 HP:0000548 Cone-rod dystrophy OMIM:236670 POMT1 10585 HP:0002365 Hypoplasia of the brainstem OMIM:236670 POMT1 10585 HP:0008551 Microtia OMIM:236670 POMT1 10585 HP:0002803 Congenital contracture OMIM:236670 POMT1 10585 HP:0002189 Excessive daytime sleepiness OMIM:236670 POMT1 10585 HP:0007973 Retinal dysplasia OMIM:236670 POMT1 10585 HP:0000413 Atresia of the external auditory canal OMIM:236670 POMT1 10585 HP:0001425 Heterogeneous OMIM:236670 POMT1 10585 HP:0001250 Seizures OMIM:236670 POMT1 10585 HP:0006888 Meningoencephalocele OMIM:236670 POMT1 10585 HP:0002126 Polymicrogyria OMIM:236670 POMT1 10585 HP:0000589 Coloboma OMIM:236670 POMT1 10585 HP:0001263 Global developmental delay OMIM:236670 POMT1 10585 HP:0006829 Severe muscular hypotonia OMIM:236670 POMT1 10585 HP:0000557 Buphthalmos OMIM:236670 POMT1 10585 HP:0007957 Corneal opacity OMIM:236670 POMT1 10585 HP:0002187 Intellectual disability, profound OMIM:236670 POMT1 10585 HP:0000050 Hypoplastic male external genitalia OMIM:236670 POMT1 10585 HP:0007260 Type II lissencephaly OMIM:236670 POMT1 10585 HP:0003812 Phenotypic variability OMIM:236670 POMT1 10585 HP:0000110 Renal dysplasia OMIM:236670 POMT1 10585 HP:0001321 Cerebellar hypoplasia OMIM:236670 POMT1 10585 HP:0002085 Occipital encephalocele OMIM:236670 POMT1 10585 HP:0000238 Hydrocephalus OMIM:236670 POMT1 10585 HP:0007033 Cerebellar dysplasia OMIM:236670 POMT1 10585 HP:0000204 Cleft upper lip OMIM:236670 POMT1 10585 HP:0000609 Optic nerve hypoplasia OMIM:236670 POMT1 10585 HP:0000618 Blindness OMIM:236670 POMT1 10585 HP:0000007 Autosomal recessive inheritance OMIM:236670 POMT1 10585 HP:0001305 Dandy-Walker malformation OMIM:236670 POMT1 10585 HP:0007291 Posterior fossa cyst OMIM:236670 POMT1 10585 HP:0002079 Hypoplasia of the corpus callosum OMIM:236670 POMT1 10585 HP:0010864 Intellectual disability, severe OMIM:236670 POMT1 10585 HP:0000541 Retinal detachment OMIM:236670 POMT1 10585 HP:0007901 Retinal malformation OMIM:236670 POMT1 10585 HP:0002023 Anal atresia OMIM:236670 POMT1 10585 HP:0001105 Retinal atrophy OMIM:236670 POMT1 10585 HP:0006891 Thick cerebral cortex OMIM:236670 POMT1 10585 HP:0003236 Elevated serum creatine phosphokinase OMIM:236670 POMT1 10585 HP:0000659 Peters anomaly OMIM:236670 POMT1 10585 HP:0000175 Cleft palate OMIM:236670 POMT1 10585 HP:0001302 Pachygyria OMIM:236670 POMT1 10585 HP:0001274 Agenesis of corpus callosum OMIM:236670 POMT1 10585 HP:0003741 Congenital muscular dystrophy OMIM:236670 POMT1 10585 HP:0000485 Megalocornea OMIM:236670 POMT1 10585 HP:0000252 Microcephaly OMIM:236670 POMT1 10585 HP:0000518 Cataract OMIM:236670 POMT1 10585 HP:0000545 Myopia OMIM:236670 POMT1 10585 HP:0000568 Microphthalmos OMIM:166260 ANO5 203859 HP:0002754 Osteomyelitis OMIM:166260 ANO5 203859 HP:0002650 Scoliosis OMIM:166260 ANO5 203859 HP:0005045 Diaphyseal cortical sclerosis OMIM:166260 ANO5 203859 HP:0006487 Bowing of the long bones OMIM:166260 ANO5 203859 HP:0002659 Increased susceptibility to fractures OMIM:166260 ANO5 203859 HP:0002757 Recurrent fractures OMIM:166260 ANO5 203859 HP:0004349 Reduced bone mineral density OMIM:166260 ANO5 203859 HP:0000938 Osteopenia OMIM:166260 ANO5 203859 HP:0003103 Abnormal cortical bone morphology OMIM:166260 ANO5 203859 HP:0006288 Advanced eruption of teeth OMIM:166260 ANO5 203859 HP:0000006 Autosomal dominant inheritance OMIM:166260 ANO5 203859 HP:0000277 Abnormality of the mandible OMIM:257320 RELN 5649 HP:0006818 Type I lissencephaly OMIM:257320 RELN 5649 HP:0000007 Autosomal recessive inheritance OMIM:257320 RELN 5649 HP:0000426 Prominent nasal bridge OMIM:257320 RELN 5649 HP:0006891 Thick cerebral cortex OMIM:257320 RELN 5649 HP:0000340 Sloping forehead OMIM:257320 RELN 5649 HP:0000252 Microcephaly OMIM:613860 FCN3 8547 HP:0200043 Verrucae OMIM:613860 FCN3 8547 HP:0002721 Immunodeficiency OMIM:613860 FCN3 8547 HP:0002783 Recurrent lower respiratory tract infections OMIM:613860 FCN3 8547 HP:0002722 Recurrent abscess formation OMIM:613860 FCN3 8547 HP:0000007 Autosomal recessive inheritance OMIM:613688 KCNH2 3757 HP:0001663 Ventricular fibrillation OMIM:613688 KCNH2 3757 HP:0001657 Prolonged QT interval OMIM:613688 KCNH2 3757 HP:0001664 Torsade de pointes OMIM:613688 KCNH2 3757 HP:0000006 Autosomal dominant inheritance OMIM:613688 KCNH2 3757 HP:0001645 Sudden cardiac death OMIM:613688 KCNH2 3757 HP:0001279 Syncope OMIM:129500 GJB6 10804 HP:0002299 Brittle hair OMIM:129500 GJB6 10804 HP:0001596 Alopecia OMIM:129500 GJB6 10804 HP:0008404 Nail dystrophy OMIM:129500 GJB6 10804 HP:0000972 Palmoplantar hyperkeratosis OMIM:129500 GJB6 10804 HP:0004493 Craniofacial hyperostosis OMIM:129500 GJB6 10804 HP:0100760 Clubbing of toes OMIM:129500 GJB6 10804 HP:0000632 Lacrimation abnormality OMIM:129500 GJB6 10804 HP:0200042 Skin ulcer OMIM:129500 GJB6 10804 HP:0001806 Onycholysis OMIM:129500 GJB6 10804 HP:0001760 Abnormality of the foot OMIM:129500 GJB6 10804 HP:0000518 Cataract OMIM:129500 GJB6 10804 HP:0000486 Strabismus OMIM:129500 GJB6 10804 HP:0000653 Sparse eyelashes OMIM:129500 GJB6 10804 HP:0000613 Photophobia OMIM:129500 GJB6 10804 HP:0001231 Abnormality of the fingernails OMIM:129500 GJB6 10804 HP:0000953 Hyperpigmentation of the skin OMIM:129500 GJB6 10804 HP:0002221 Absent axillary hair OMIM:129500 GJB6 10804 HP:0001161 Hand polydactyly OMIM:129500 GJB6 10804 HP:0004322 Short stature OMIM:129500 GJB6 10804 HP:0000982 Palmoplantar keratoderma OMIM:129500 GJB6 10804 HP:0002213 Fine hair OMIM:129500 GJB6 10804 HP:0000535 Sparse eyebrow OMIM:129500 GJB6 10804 HP:0000998 Hypertrichosis OMIM:129500 GJB6 10804 HP:0100543 Cognitive impairment OMIM:129500 GJB6 10804 HP:0007440 Generalized hyperpigmentation OMIM:129500 GJB6 10804 HP:0002217 Slow-growing hair OMIM:129500 GJB6 10804 HP:0002164 Nail dysplasia OMIM:129500 GJB6 10804 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:129500 GJB6 10804 HP:0007400 Irregular hyperpigmentation OMIM:129500 GJB6 10804 HP:0000498 Blepharitis OMIM:129500 GJB6 10804 HP:0000164 Abnormality of the teeth OMIM:129500 GJB6 10804 HP:0000006 Autosomal dominant inheritance OMIM:129500 GJB6 10804 HP:0100643 Abnormality of nail color OMIM:129500 GJB6 10804 HP:0003828 Variable expressivity OMIM:129500 GJB6 10804 HP:0000509 Conjunctivitis OMIM:129500 GJB6 10804 HP:0002555 Absent pubic hair OMIM:129500 GJB6 10804 HP:0006101 Finger syndactyly OMIM:129500 GJB6 10804 HP:0000968 Ectodermal dysplasia OMIM:129500 GJB6 10804 HP:0001792 Small nail OMIM:612390 TSEN34 79042 HP:0002072 Chorea OMIM:612390 TSEN34 79042 HP:0100307 Cerebellar hemisphere hypoplasia OMIM:612390 TSEN34 79042 HP:0000505 Visual impairment OMIM:612390 TSEN34 79042 HP:0000252 Microcephaly OMIM:612390 TSEN34 79042 HP:0001320 Cerebellar vermis hypoplasia OMIM:612390 TSEN34 79042 HP:0000007 Autosomal recessive inheritance OMIM:612390 TSEN34 79042 HP:0001332 Dystonia OMIM:273800 ITGB3 3690 HP:0000132 Menorrhagia OMIM:273800 ITGB3 3690 HP:0003540 Impaired platelet aggregation OMIM:273800 ITGB3 3690 HP:0000979 Purpura OMIM:273800 ITGB3 3690 HP:0002239 Gastrointestinal hemorrhage OMIM:273800 ITGB3 3690 HP:0000978 Bruising susceptibility OMIM:273800 ITGB3 3690 HP:0001975 Decreased platelet glycoprotein IIb-IIIa OMIM:273800 ITGB3 3690 HP:0000225 Gingival bleeding OMIM:273800 ITGB3 3690 HP:0000007 Autosomal recessive inheritance OMIM:273800 ITGB3 3690 HP:0003010 Prolonged bleeding time OMIM:273800 ITGB3 3690 HP:0002170 Intracranial hemorrhage OMIM:273800 ITGB3 3690 HP:0000421 Epistaxis OMIM:273800 ITGA2B 3674 HP:0000132 Menorrhagia OMIM:273800 ITGA2B 3674 HP:0003540 Impaired platelet aggregation OMIM:273800 ITGA2B 3674 HP:0000979 Purpura OMIM:273800 ITGA2B 3674 HP:0002239 Gastrointestinal hemorrhage OMIM:273800 ITGA2B 3674 HP:0000978 Bruising susceptibility OMIM:273800 ITGA2B 3674 HP:0001975 Decreased platelet glycoprotein IIb-IIIa OMIM:273800 ITGA2B 3674 HP:0000225 Gingival bleeding OMIM:273800 ITGA2B 3674 HP:0000007 Autosomal recessive inheritance OMIM:273800 ITGA2B 3674 HP:0003010 Prolonged bleeding time OMIM:273800 ITGA2B 3674 HP:0002170 Intracranial hemorrhage OMIM:273800 ITGA2B 3674 HP:0000421 Epistaxis ORPHANET:85410 ANKRD55 79722 HP:0002829 Arthralgia ORPHANET:85410 ANKRD55 79722 HP:0100533 Inflammatory abnormality of the eye ORPHANET:85410 ANKRD55 79722 HP:0001386 Joint swelling ORPHANET:85410 ANKRD55 79722 HP:0002960 Autoimmunity ORPHANET:85410 PTPN22 26191 HP:0002829 Arthralgia ORPHANET:85410 PTPN22 26191 HP:0100533 Inflammatory abnormality of the eye ORPHANET:85410 PTPN22 26191 HP:0001386 Joint swelling ORPHANET:85410 PTPN22 26191 HP:0002960 Autoimmunity ORPHANET:85410 TYK2 7297 HP:0002829 Arthralgia ORPHANET:85410 TYK2 7297 HP:0100533 Inflammatory abnormality of the eye ORPHANET:85410 TYK2 7297 HP:0001386 Joint swelling ORPHANET:85410 TYK2 7297 HP:0002960 Autoimmunity ORPHANET:85410 IL2RA 3559 HP:0002829 Arthralgia ORPHANET:85410 IL2RA 3559 HP:0100533 Inflammatory abnormality of the eye ORPHANET:85410 IL2RA 3559 HP:0001386 Joint swelling ORPHANET:85410 IL2RA 3559 HP:0002960 Autoimmunity ORPHANET:85410 STAT4 6775 HP:0002829 Arthralgia ORPHANET:85410 STAT4 6775 HP:0100533 Inflammatory abnormality of the eye ORPHANET:85410 STAT4 6775 HP:0001386 Joint swelling ORPHANET:85410 STAT4 6775 HP:0002960 Autoimmunity ORPHANET:85410 FAS 355 HP:0002829 Arthralgia ORPHANET:85410 FAS 355 HP:0100533 Inflammatory abnormality of the eye ORPHANET:85410 FAS 355 HP:0001386 Joint swelling ORPHANET:85410 FAS 355 HP:0002960 Autoimmunity ORPHANET:85410 CD247 919 HP:0002829 Arthralgia ORPHANET:85410 CD247 919 HP:0100533 Inflammatory abnormality of the eye ORPHANET:85410 CD247 919 HP:0001386 Joint swelling ORPHANET:85410 CD247 919 HP:0002960 Autoimmunity ORPHANET:85410 IL2RB 3560 HP:0002829 Arthralgia ORPHANET:85410 IL2RB 3560 HP:0100533 Inflammatory abnormality of the eye ORPHANET:85410 IL2RB 3560 HP:0001386 Joint swelling ORPHANET:85410 IL2RB 3560 HP:0002960 Autoimmunity ORPHANET:85410 PTPN2 5771 HP:0002829 Arthralgia ORPHANET:85410 PTPN2 5771 HP:0100533 Inflammatory abnormality of the eye ORPHANET:85410 PTPN2 5771 HP:0001386 Joint swelling ORPHANET:85410 PTPN2 5771 HP:0002960 Autoimmunity OMIM:605253 EGR2 1959 HP:0001291 Abnormality of the cranial nerves OMIM:605253 EGR2 1959 HP:0003693 Distal amyotrophy OMIM:605253 EGR2 1959 HP:0003484 Upper limb muscle weakness OMIM:605253 EGR2 1959 HP:0001270 Motor delay OMIM:605253 EGR2 1959 HP:0007182 Peripheral hypomyelination OMIM:605253 EGR2 1959 HP:0003431 Decreased motor nerve conduction velocity OMIM:605253 EGR2 1959 HP:0009830 Peripheral neuropathy OMIM:605253 EGR2 1959 HP:0002460 Distal muscle weakness OMIM:605253 EGR2 1959 HP:0003383 Onion bulb formation OMIM:605253 EGR2 1959 HP:0000007 Autosomal recessive inheritance OMIM:605253 EGR2 1959 HP:0000006 Autosomal dominant inheritance OMIM:605253 EGR2 1959 HP:0001319 Neonatal hypotonia OMIM:605253 EGR2 1959 HP:0001284 Areflexia OMIM:605253 EGR2 1959 HP:0003577 Congenital onset OMIM:605253 MPZ 4359 HP:0001291 Abnormality of the cranial nerves OMIM:605253 MPZ 4359 HP:0003693 Distal amyotrophy OMIM:605253 MPZ 4359 HP:0003484 Upper limb muscle weakness OMIM:605253 MPZ 4359 HP:0001270 Motor delay OMIM:605253 MPZ 4359 HP:0007182 Peripheral hypomyelination OMIM:605253 MPZ 4359 HP:0003431 Decreased motor nerve conduction velocity OMIM:605253 MPZ 4359 HP:0009830 Peripheral neuropathy OMIM:605253 MPZ 4359 HP:0002460 Distal muscle weakness OMIM:605253 MPZ 4359 HP:0003383 Onion bulb formation OMIM:605253 MPZ 4359 HP:0000007 Autosomal recessive inheritance OMIM:605253 MPZ 4359 HP:0000006 Autosomal dominant inheritance OMIM:605253 MPZ 4359 HP:0001319 Neonatal hypotonia OMIM:605253 MPZ 4359 HP:0001284 Areflexia OMIM:605253 MPZ 4359 HP:0003577 Congenital onset OMIM:610193 DSG2 1829 HP:0001425 Heterogeneous OMIM:610193 DSG2 1829 HP:0011663 Right ventricular cardiomyopathy OMIM:610193 DSG2 1829 HP:0006682 Ventricular extrasystoles OMIM:610193 DSG2 1829 HP:0004756 Ventricular tachycardia OMIM:610193 DSG2 1829 HP:0001962 Palpitations OMIM:610193 DSG2 1829 HP:0001645 Sudden cardiac death OMIM:610193 DSG2 1829 HP:0000006 Autosomal dominant inheritance OMIM:200150 VPS13A 23230 HP:0002205 Recurrent respiratory infections OMIM:200150 VPS13A 23230 HP:0100716 Self-injurious behavior OMIM:200150 VPS13A 23230 HP:0002024 Malabsorption OMIM:200150 VPS13A 23230 HP:0001337 Tremor OMIM:200150 VPS13A 23230 HP:0001250 Seizures OMIM:200150 VPS13A 23230 HP:0000518 Cataract OMIM:200150 VPS13A 23230 HP:0004322 Short stature OMIM:200150 VPS13A 23230 HP:0002119 Ventriculomegaly OMIM:200150 VPS13A 23230 HP:0002360 Sleep disturbance OMIM:200150 VPS13A 23230 HP:0000709 Psychosis OMIM:200150 VPS13A 23230 HP:0003236 Elevated serum creatine phosphokinase OMIM:200150 VPS13A 23230 HP:0001332 Dystonia OMIM:200150 VPS13A 23230 HP:0001288 Gait disturbance OMIM:200150 VPS13A 23230 HP:0003202 Skeletal muscle atrophy OMIM:200150 VPS13A 23230 HP:0002376 Developmental regression OMIM:200150 VPS13A 23230 HP:0001575 Mood changes OMIM:200150 VPS13A 23230 HP:0002120 Cerebral cortical atrophy OMIM:200150 VPS13A 23230 HP:0000718 Aggressive behavior OMIM:200150 VPS13A 23230 HP:0003110 Abnormality of urine homeostasis OMIM:200150 VPS13A 23230 HP:0000734 Disinhibition OMIM:200150 VPS13A 23230 HP:0002167 Neurological speech impairment OMIM:200150 VPS13A 23230 HP:0002311 Incoordination OMIM:200150 VPS13A 23230 HP:0001639 Hypertrophic cardiomyopathy OMIM:200150 VPS13A 23230 HP:0002072 Chorea OMIM:200150 VPS13A 23230 HP:0002017 Nausea and vomiting OMIM:200150 VPS13A 23230 HP:0003198 Myopathy OMIM:200150 VPS13A 23230 HP:0002027 Abdominal pain OMIM:200150 VPS13A 23230 HP:0002310 Orofacial dyskinesia OMIM:200150 VPS13A 23230 HP:0002716 Lymphadenopathy OMIM:200150 VPS13A 23230 HP:0008767 Self-mutilation of tongue and lips due to involuntary movements OMIM:200150 VPS13A 23230 HP:0000751 Personality changes OMIM:200150 VPS13A 23230 HP:0001300 Parkinsonism OMIM:200150 VPS13A 23230 HP:0000763 Sensory neuropathy OMIM:200150 VPS13A 23230 HP:0006554 Acute hepatic failure OMIM:200150 VPS13A 23230 HP:0000739 Anxiety OMIM:200150 VPS13A 23230 HP:0001928 Abnormality of coagulation OMIM:200150 VPS13A 23230 HP:0003457 EMG abnormality OMIM:200150 VPS13A 23230 HP:0000726 Dementia OMIM:200150 VPS13A 23230 HP:0000007 Autosomal recessive inheritance OMIM:200150 VPS13A 23230 HP:0003676 Progressive disorder OMIM:200150 VPS13A 23230 HP:0002340 Caudate atrophy OMIM:200150 VPS13A 23230 HP:0007326 Progressive choreoathetosis OMIM:200150 VPS13A 23230 HP:0001284 Areflexia OMIM:200150 VPS13A 23230 HP:0001761 Pes cavus OMIM:200150 VPS13A 23230 HP:0001541 Ascites OMIM:200150 VPS13A 23230 HP:0007018 Attention deficit hyperactivity disorder OMIM:200150 VPS13A 23230 HP:0001252 Muscular hypotonia OMIM:200150 VPS13A 23230 HP:0001744 Splenomegaly OMIM:200150 VPS13A 23230 HP:0002354 Memory impairment OMIM:200150 VPS13A 23230 HP:0002240 Hepatomegaly OMIM:200150 VPS13A 23230 HP:0003690 Limb muscle weakness OMIM:200150 VPS13A 23230 HP:0001824 Weight loss OMIM:200150 VPS13A 23230 HP:0009830 Peripheral neuropathy OMIM:200150 VPS13A 23230 HP:0000639 Nystagmus OMIM:200150 VPS13A 23230 HP:0001265 Hyporeflexia OMIM:200150 VPS13A 23230 HP:0001877 Abnormality of erythrocytes OMIM:200150 VPS13A 23230 HP:0001927 Acanthocytosis OMIM:200150 VPS13A 23230 HP:0002307 Drooling OMIM:200150 VPS13A 23230 HP:0001260 Dysarthria OMIM:200150 VPS13A 23230 HP:0100033 Tics OMIM:200150 VPS13A 23230 HP:0000980 Pallor OMIM:200150 VPS13A 23230 HP:0002633 Vasculitis OMIM:200150 VPS13A 23230 HP:0000820 Abnormality of the thyroid gland OMIM:200150 VPS13A 23230 HP:0002015 Dysphagia OMIM:200150 VPS13A 23230 HP:0002910 Elevated hepatic transaminases OMIM:200150 VPS13A 23230 HP:0000163 Abnormality of the oral cavity OMIM:615924 BSCL2 26580 HP:0002059 Cerebral atrophy OMIM:615924 BSCL2 26580 HP:0001268 Mental deterioration OMIM:615924 BSCL2 26580 HP:0001298 Encephalopathy OMIM:615924 BSCL2 26580 HP:0001337 Tremor OMIM:615924 BSCL2 26580 HP:0001251 Ataxia OMIM:615924 BSCL2 26580 HP:0000750 Delayed speech and language development OMIM:615924 BSCL2 26580 HP:0002155 Hypertriglyceridemia OMIM:615924 BSCL2 26580 HP:0000752 Hyperactivity OMIM:615924 BSCL2 26580 HP:0002240 Hepatomegaly OMIM:615924 BSCL2 26580 HP:0002273 Tetraparesis OMIM:615924 BSCL2 26580 HP:0002371 Loss of speech OMIM:615924 BSCL2 26580 HP:0001250 Seizures OMIM:615924 BSCL2 26580 HP:0001257 Spasticity OMIM:615924 BSCL2 26580 HP:0001332 Dystonia OMIM:615924 BSCL2 26580 HP:0002529 Neuronal loss in central nervous system OMIM:615924 BSCL2 26580 HP:0002376 Developmental regression OMIM:615924 BSCL2 26580 HP:0007256 Abnormal pyramidal signs OMIM:615924 BSCL2 26580 HP:0001336 Myoclonus OMIM:615924 BSCL2 26580 HP:0001347 Hyperreflexia OMIM:601154 SCN5A 6331 HP:0004749 Atrial flutter OMIM:601154 SCN5A 6331 HP:0001297 Stroke OMIM:601154 SCN5A 6331 HP:0011712 Right bundle branch block OMIM:601154 SCN5A 6331 HP:0006673 Reduced systolic function OMIM:601154 SCN5A 6331 HP:0005110 Atrial fibrillation OMIM:601154 SCN5A 6331 HP:0001962 Palpitations OMIM:601154 SCN5A 6331 HP:0001678 Atrioventricular block OMIM:601154 SCN5A 6331 HP:0011713 Left bundle branch block OMIM:601154 SCN5A 6331 HP:0001644 Dilated cardiomyopathy OMIM:601154 SCN5A 6331 HP:0001279 Syncope OMIM:601154 SCN5A 6331 HP:0000006 Autosomal dominant inheritance OMIM:614878 PLCG2 5336 HP:0000518 Cataract OMIM:614878 PLCG2 5336 HP:0002719 Recurrent infections OMIM:614878 PLCG2 5336 HP:0002829 Arthralgia OMIM:614878 PLCG2 5336 HP:0010783 Erythema OMIM:614878 PLCG2 5336 HP:0000006 Autosomal dominant inheritance OMIM:614878 PLCG2 5336 HP:0100658 Cellulitis OMIM:614878 PLCG2 5336 HP:0011950 Bronchiolitis OMIM:614878 PLCG2 5336 HP:0100279 Ulcerative colitis OMIM:614878 PLCG2 5336 HP:0003593 Infantile onset OMIM:614878 PLCG2 5336 HP:0002720 IgA deficiency OMIM:614878 PLCG2 5336 HP:0006515 Interstitial pneumonitis OMIM:614878 PLCG2 5336 HP:0200020 Corneal erosion OMIM:614878 PLCG2 5336 HP:0002850 IgM deficiency OMIM:248500 MAN2B1 4125 HP:0001347 Hyperreflexia OMIM:248500 MAN2B1 4125 HP:0003272 Abnormality of the hip bone OMIM:248500 MAN2B1 4125 HP:0001252 Muscular hypotonia OMIM:248500 MAN2B1 4125 HP:0000457 Depressed nasal ridge OMIM:248500 MAN2B1 4125 HP:0002066 Gait ataxia OMIM:248500 MAN2B1 4125 HP:0002516 Increased intracranial pressure OMIM:248500 MAN2B1 4125 HP:0011800 Midface retrusion OMIM:248500 MAN2B1 4125 HP:0000007 Autosomal recessive inheritance OMIM:248500 MAN2B1 4125 HP:0002070 Limb ataxia OMIM:248500 MAN2B1 4125 HP:0001744 Splenomegaly OMIM:248500 MAN2B1 4125 HP:0005469 Flat occiput OMIM:248500 MAN2B1 4125 HP:0011039 Abnormality of the helix OMIM:248500 MAN2B1 4125 HP:0004313 Hypogammaglobulinemia OMIM:248500 MAN2B1 4125 HP:0000336 Prominent supraorbital ridges OMIM:248500 MAN2B1 4125 HP:0000256 Macrocephaly OMIM:248500 MAN2B1 4125 HP:0000518 Cataract OMIM:248500 MAN2B1 4125 HP:0004299 Hernia of the abdominal wall OMIM:248500 MAN2B1 4125 HP:0000388 Otitis media OMIM:248500 MAN2B1 4125 HP:0000212 Gingival overgrowth OMIM:248500 MAN2B1 4125 HP:0007759 Opacification of the corneal stroma OMIM:248500 MAN2B1 4125 HP:0000286 Epicanthus OMIM:248500 MAN2B1 4125 HP:0002240 Hepatomegaly OMIM:248500 MAN2B1 4125 HP:0001260 Dysarthria OMIM:248500 MAN2B1 4125 HP:0002980 Femoral bowing OMIM:248500 MAN2B1 4125 HP:0002205 Recurrent respiratory infections OMIM:248500 MAN2B1 4125 HP:0000316 Hypertelorism OMIM:248500 MAN2B1 4125 HP:0001510 Growth delay OMIM:248500 MAN2B1 4125 HP:0000365 Hearing impairment OMIM:248500 MAN2B1 4125 HP:0002007 Frontal bossing OMIM:248500 MAN2B1 4125 HP:0000023 Inguinal hernia OMIM:248500 MAN2B1 4125 HP:0000574 Thick eyebrow OMIM:248500 MAN2B1 4125 HP:0001263 Global developmental delay OMIM:248500 MAN2B1 4125 HP:0005280 Depressed nasal bridge OMIM:248500 MAN2B1 4125 HP:0000272 Malar flattening OMIM:248500 MAN2B1 4125 HP:0002718 Recurrent bacterial infections OMIM:248500 MAN2B1 4125 HP:0000158 Macroglossia OMIM:248500 MAN2B1 4125 HP:0000738 Hallucinations OMIM:248500 MAN2B1 4125 HP:0006487 Bowing of the long bones OMIM:248500 MAN2B1 4125 HP:0003302 Spondylolisthesis OMIM:248500 MAN2B1 4125 HP:0000768 Pectus carinatum OMIM:248500 MAN2B1 4125 HP:0007232 Spinocerebellar tract disease in lower limbs OMIM:248500 MAN2B1 4125 HP:0000337 Broad forehead OMIM:248500 MAN2B1 4125 HP:0000280 Coarse facial features OMIM:248500 MAN2B1 4125 HP:0004493 Craniofacial hyperostosis OMIM:248500 MAN2B1 4125 HP:0002808 Kyphosis OMIM:248500 MAN2B1 4125 HP:0000689 Dental malocclusion OMIM:248500 MAN2B1 4125 HP:0003487 Babinski sign OMIM:248500 MAN2B1 4125 HP:0001249 Intellectual disability OMIM:248500 MAN2B1 4125 HP:0002750 Delayed skeletal maturation OMIM:248500 MAN2B1 4125 HP:0002650 Scoliosis OMIM:248500 MAN2B1 4125 HP:0007893 Progressive retinal degeneration OMIM:248500 MAN2B1 4125 HP:0001272 Cerebellar atrophy OMIM:248500 MAN2B1 4125 HP:0002652 Skeletal dysplasia OMIM:248500 MAN2B1 4125 HP:0000400 Macrotia OMIM:248500 MAN2B1 4125 HP:0000407 Sensorineural hearing impairment OMIM:248500 MAN2B1 4125 HP:0004570 Increased vertebral height OMIM:248500 MAN2B1 4125 HP:0100543 Cognitive impairment OMIM:248500 MAN2B1 4125 HP:0001922 Vacuolated lymphocytes OMIM:248500 MAN2B1 4125 HP:0005978 Type II diabetes mellitus OMIM:248500 MAN2B1 4125 HP:0000998 Hypertrichosis OMIM:248500 MAN2B1 4125 HP:0000174 Abnormality of the palate OMIM:248500 MAN2B1 4125 HP:0007772 Impaired smooth pursuit OMIM:248500 MAN2B1 4125 HP:0000294 Low anterior hairline OMIM:248500 MAN2B1 4125 HP:0100240 Synostosis of joints OMIM:248500 MAN2B1 4125 HP:0000687 Widely spaced teeth OMIM:248500 MAN2B1 4125 HP:0001547 Abnormality of the rib cage OMIM:248500 MAN2B1 4125 HP:0010885 Aseptic necrosis OMIM:248500 MAN2B1 4125 HP:0002684 Thickened calvaria OMIM:248500 MAN2B1 4125 HP:0000157 Abnormality of the tongue OMIM:248500 MAN2B1 4125 HP:0000943 Dysostosis multiplex OMIM:248500 MAN2B1 4125 HP:0000470 Short neck OMIM:248500 MAN2B1 4125 HP:0000639 Nystagmus OMIM:248500 MAN2B1 4125 HP:0005619 Thoracolumbar kyphosis OMIM:248500 MAN2B1 4125 HP:0001369 Arthritis OMIM:248500 MAN2B1 4125 HP:0001257 Spasticity OMIM:248500 MAN2B1 4125 HP:0000303 Mandibular prognathia OMIM:148190 PAX6 5080 HP:0007759 Opacification of the corneal stroma OMIM:148190 PAX6 5080 HP:0000006 Autosomal dominant inheritance OMIM:148190 PAX6 5080 HP:0000491 Keratitis OMIM:233100 SLC5A2 6524 HP:0010677 Enuresis nocturna OMIM:233100 SLC5A2 6524 HP:0003828 Variable expressivity OMIM:233100 SLC5A2 6524 HP:0000103 Polyuria OMIM:233100 SLC5A2 6524 HP:0000007 Autosomal recessive inheritance OMIM:233100 SLC5A2 6524 HP:0000006 Autosomal dominant inheritance OMIM:233100 SLC5A2 6524 HP:0003076 Glycosuria OMIM:233100 SLC5A2 6524 HP:0001959 Polydipsia OMIM:233100 SLC5A2 6524 HP:0002591 Polyphagia OMIM:251255 RBBP8 5932 HP:0001822 Hallux valgus OMIM:251255 RBBP8 5932 HP:0004220 Short middle phalanx of the 5th finger OMIM:251255 RBBP8 5932 HP:0000278 Retrognathia OMIM:251255 RBBP8 5932 HP:0001249 Intellectual disability OMIM:251255 RBBP8 5932 HP:0005780 Absent fourth finger distal interphalangeal crease OMIM:251255 RBBP8 5932 HP:0000718 Aggressive behavior OMIM:251255 RBBP8 5932 HP:0000007 Autosomal recessive inheritance OMIM:251255 RBBP8 5932 HP:0011451 Congenital microcephaly OMIM:251255 RBBP8 5932 HP:0004692 4-5 toe syndactyly OMIM:251255 RBBP8 5932 HP:0002943 Thoracic scoliosis OMIM:251255 RBBP8 5932 HP:0000448 Prominent nose OMIM:251255 RBBP8 5932 HP:0006216 Single interphalangeal crease of fifth finger OMIM:240800 ABCC8 6833 HP:0000007 Autosomal recessive inheritance OMIM:240800 ABCC8 6833 HP:0001257 Spasticity OMIM:240800 ABCC8 6833 HP:0002329 Drowsiness OMIM:240800 ABCC8 6833 HP:0001251 Ataxia OMIM:240800 ABCC8 6833 HP:0001259 Coma OMIM:240800 ABCC8 6833 HP:0000825 Hyperinsulinemic hypoglycemia OMIM:240800 ABCC8 6833 HP:0001347 Hyperreflexia OMIM:240800 ABCC8 6833 HP:0000737 Irritability OMIM:240800 ABCC8 6833 HP:0001943 Hypoglycemia OMIM:240800 ABCC8 6833 HP:0000006 Autosomal dominant inheritance OMIM:240800 ABCC8 6833 HP:0001249 Intellectual disability OMIM:240800 ABCC8 6833 HP:0000486 Strabismus OMIM:615838 LYRM7 90624 HP:0002878 Respiratory failure OMIM:615838 LYRM7 90624 HP:0001324 Muscle weakness OMIM:615838 LYRM7 90624 HP:0001254 Lethargy OMIM:615838 LYRM7 90624 HP:0002079 Hypoplasia of the corpus callosum OMIM:615838 LYRM7 90624 HP:0001252 Muscular hypotonia OMIM:615838 LYRM7 90624 HP:0002376 Developmental regression OMIM:615838 LYRM7 90624 HP:0002059 Cerebral atrophy OMIM:615838 LYRM7 90624 HP:0001285 Spastic tetraparesis OMIM:615838 LYRM7 90624 HP:0001903 Anemia OMIM:615838 LYRM7 90624 HP:0003128 Lactic acidosis OMIM:615838 LYRM7 90624 HP:0002151 Increased serum lactate OMIM:612813 ACAN 176 HP:0000358 Posteriorly rotated ears OMIM:612813 ACAN 176 HP:0001552 Barrel-shaped chest OMIM:612813 ACAN 176 HP:0001609 Hoarse voice OMIM:612813 ACAN 176 HP:0008905 Rhizomelia OMIM:612813 ACAN 176 HP:0005285 Absent nasal bridge OMIM:612813 ACAN 176 HP:0002651 Spondyloepimetaphyseal dysplasia OMIM:612813 ACAN 176 HP:0000272 Malar flattening OMIM:612813 ACAN 176 HP:0000007 Autosomal recessive inheritance OMIM:612813 ACAN 176 HP:0009381 Short finger OMIM:612813 ACAN 176 HP:0011304 Broad thumb OMIM:612813 ACAN 176 HP:0001388 Joint laxity OMIM:612813 ACAN 176 HP:0000303 Mandibular prognathia OMIM:612813 ACAN 176 HP:0004482 Relative macrocephaly OMIM:612813 ACAN 176 HP:0003027 Mesomelia OMIM:612813 ACAN 176 HP:0002938 Lumbar hyperlordosis OMIM:612813 ACAN 176 HP:0000369 Low-set ears OMIM:612813 ACAN 176 HP:0000470 Short neck OMIM:304120 FLNA 2316 HP:0005048 Synostosis of carpal bones OMIM:304120 FLNA 2316 HP:0000772 Abnormality of the ribs OMIM:304120 FLNA 2316 HP:0001162 Postaxial hand polydactyly OMIM:304120 FLNA 2316 HP:0000358 Posteriorly rotated ears OMIM:304120 FLNA 2316 HP:0001838 Rocker bottom foot OMIM:304120 FLNA 2316 HP:0000773 Short ribs OMIM:304120 FLNA 2316 HP:0001782 Bulbous tips of toes OMIM:304120 FLNA 2316 HP:0003031 Ulnar bowing OMIM:304120 FLNA 2316 HP:0003042 Elbow dislocation OMIM:304120 FLNA 2316 HP:0000160 Narrow mouth OMIM:304120 FLNA 2316 HP:0000260 Wide anterior fontanel OMIM:304120 FLNA 2316 HP:0000126 Hydronephrosis OMIM:304120 FLNA 2316 HP:0002475 Myelomeningocele OMIM:304120 FLNA 2316 HP:0000028 Cryptorchidism OMIM:304120 FLNA 2316 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:304120 FLNA 2316 HP:0011001 Increased bone mineral density OMIM:304120 FLNA 2316 HP:0010935 Abnormality of the upper urinary tract OMIM:304120 FLNA 2316 HP:0000365 Hearing impairment OMIM:304120 FLNA 2316 HP:0000774 Narrow chest OMIM:304120 FLNA 2316 HP:0001841 Preaxial foot polydactyly OMIM:304120 FLNA 2316 HP:0000336 Prominent supraorbital ridges OMIM:304120 FLNA 2316 HP:0008087 Nonossified fifth metatarsal OMIM:304120 FLNA 2316 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:304120 FLNA 2316 HP:0002991 Abnormality of the fibula OMIM:304120 FLNA 2316 HP:0011220 Prominent forehead OMIM:304120 FLNA 2316 HP:0001156 Brachydactyly syndrome OMIM:304120 FLNA 2316 HP:0003304 Spondylolysis OMIM:304120 FLNA 2316 HP:0010743 Short metatarsal OMIM:304120 FLNA 2316 HP:0000283 Broad face OMIM:304120 FLNA 2316 HP:0002980 Femoral bowing OMIM:304120 FLNA 2316 HP:0001249 Intellectual disability OMIM:304120 FLNA 2316 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:304120 FLNA 2316 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:304120 FLNA 2316 HP:0000767 Pectus excavatum OMIM:304120 FLNA 2316 HP:0002645 Wormian bones OMIM:304120 FLNA 2316 HP:0010560 Undulate clavicles OMIM:304120 FLNA 2316 HP:0100490 Camptodactyly of finger OMIM:304120 FLNA 2316 HP:0008368 Tarsal synostosis OMIM:304120 FLNA 2316 HP:0000347 Micrognathia OMIM:304120 FLNA 2316 HP:0002982 Tibial bowing OMIM:304120 FLNA 2316 HP:0100627 Displacement of the external urethral meatus OMIM:304120 FLNA 2316 HP:0008897 Postnatal growth retardation OMIM:304120 FLNA 2316 HP:0001539 Omphalocele OMIM:304120 FLNA 2316 HP:0000162 Glossoptosis OMIM:304120 FLNA 2316 HP:0002878 Respiratory failure OMIM:304120 FLNA 2316 HP:0001476 Delayed closure of the anterior fontanelle OMIM:304120 FLNA 2316 HP:0009778 Short thumb OMIM:304120 FLNA 2316 HP:0000494 Downslanted palpebral fissures OMIM:304120 FLNA 2316 HP:0000175 Cleft palate OMIM:304120 FLNA 2316 HP:0002007 Frontal bossing OMIM:304120 FLNA 2316 HP:0004322 Short stature OMIM:304120 FLNA 2316 HP:0000316 Hypertelorism OMIM:304120 FLNA 2316 HP:0003422 Vertebral segmentation defect OMIM:304120 FLNA 2316 HP:0002986 Radial bowing OMIM:304120 FLNA 2316 HP:0002694 Sclerosis of skull base OMIM:304120 FLNA 2316 HP:0000047 Hypospadias OMIM:304120 FLNA 2316 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:304120 FLNA 2316 HP:0000238 Hydrocephalus OMIM:304120 FLNA 2316 HP:0000366 Abnormality of the nose OMIM:304120 FLNA 2316 HP:0010557 Overlapping fingers OMIM:304120 FLNA 2316 HP:0006381 Rudimentary fibula OMIM:304120 FLNA 2316 HP:0011800 Midface retrusion OMIM:304120 FLNA 2316 HP:0001671 Abnormality of the cardiac septa OMIM:304120 FLNA 2316 HP:0010049 Short metacarpal OMIM:304120 FLNA 2316 HP:0011304 Broad thumb OMIM:304120 FLNA 2316 HP:0010109 Short hallux OMIM:304120 FLNA 2316 HP:0004493 Craniofacial hyperostosis OMIM:304120 FLNA 2316 HP:0002650 Scoliosis OMIM:304120 FLNA 2316 HP:0000405 Conductive hearing impairment OMIM:304120 FLNA 2316 HP:0001423 X-linked dominant inheritance OMIM:304120 FLNA 2316 HP:0002084 Encephalocele OMIM:304120 FLNA 2316 HP:0000946 Hypoplastic ilia OMIM:304120 FLNA 2316 HP:0010055 Broad hallux OMIM:304120 FLNA 2316 HP:0006160 Irregular metacarpals OMIM:304120 FLNA 2316 HP:0002687 Abnormality of the frontal sinuses OMIM:304120 FLNA 2316 HP:0005280 Depressed nasal bridge OMIM:304120 FLNA 2316 HP:0009467 Radial deviation of the 2nd finger OMIM:304120 FLNA 2316 HP:0000926 Platyspondyly OMIM:304120 FLNA 2316 HP:0100543 Cognitive impairment OMIM:304120 FLNA 2316 HP:0010559 Vertical clivus OMIM:304120 FLNA 2316 HP:0001770 Toe syndactyly OMIM:304120 FLNA 2316 HP:0003826 Stillbirth OMIM:304120 FLNA 2316 HP:0001374 Congenital hip dislocation OMIM:304120 FLNA 2316 HP:0000272 Malar flattening OMIM:304120 FLNA 2316 HP:0009804 Reduced number of teeth OMIM:304120 FLNA 2316 HP:0006487 Bowing of the long bones OMIM:304120 FLNA 2316 HP:0000369 Low-set ears OMIM:262300 CNGB3 54714 HP:0000007 Autosomal recessive inheritance OMIM:262300 CNGB3 54714 HP:0000518 Cataract OMIM:262300 CNGB3 54714 HP:0001141 Severe visual impairment OMIM:262300 CNGB3 54714 HP:0007803 Monochromacy OMIM:262300 CNGB3 54714 HP:0007811 Horizontal pendular nystagmus OMIM:262300 CNGB3 54714 HP:0011003 Severe Myopia OMIM:262300 CNGB3 54714 HP:0000613 Photophobia OMIM:613981 KRT74 121391 HP:0004782 Hypotrichosis of the scalp OMIM:613981 KRT74 121391 HP:0000006 Autosomal dominant inheritance OMIM:615631 C15ORF41 84529 HP:0000980 Pallor OMIM:615631 C15ORF41 84529 HP:0011273 Anisocytosis OMIM:615631 C15ORF41 84529 HP:0000952 Jaundice OMIM:615631 C15ORF41 84529 HP:0001923 Reticulocytosis OMIM:615631 C15ORF41 84529 HP:0000007 Autosomal recessive inheritance OMIM:615631 C15ORF41 84529 HP:0001159 Syndactyly OMIM:615631 C15ORF41 84529 HP:0001792 Small nail OMIM:615631 C15ORF41 84529 HP:0010972 Anemia of inadequate production OMIM:615631 C15ORF41 84529 HP:0004447 Poikilocytosis OMIM:615631 C15ORF41 84529 HP:0004322 Short stature OMIM:615631 C15ORF41 84529 HP:0002240 Hepatomegaly OMIM:615631 C15ORF41 84529 HP:0001744 Splenomegaly OMIM:615631 C15ORF41 84529 HP:0012132 Erythroid hyperplasia OMIM:615985 TTC8 123016 HP:0000510 Retinitis pigmentosa OMIM:615985 TTC8 123016 HP:0010442 Polydactyly OMIM:615985 TTC8 123016 HP:0000110 Renal dysplasia OMIM:615985 TTC8 123016 HP:0001513 Obesity OMIM:615985 TTC8 123016 HP:0001263 Global developmental delay OMIM:615985 TTC8 123016 HP:0100543 Cognitive impairment OMIM:615985 TTC8 123016 HP:0000248 Brachycephaly OMIM:615985 TTC8 123016 HP:0000135 Hypogonadism OMIM:615985 TTC8 123016 HP:0001249 Intellectual disability OMIM:615985 TTC8 123016 HP:0001696 Situs inversus totalis OMIM:615985 TTC8 123016 HP:0000047 Hypospadias OMIM:300263 PHF8 23133 HP:0002162 Low posterior hairline OMIM:300263 PHF8 23133 HP:0000366 Abnormality of the nose OMIM:300263 PHF8 23133 HP:0000028 Cryptorchidism OMIM:300263 PHF8 23133 HP:0001176 Large hands OMIM:300263 PHF8 23133 HP:0001249 Intellectual disability OMIM:300263 PHF8 23133 HP:0000276 Long face OMIM:300263 PHF8 23133 HP:0100543 Cognitive impairment OMIM:300263 PHF8 23133 HP:0002650 Scoliosis OMIM:300263 PHF8 23133 HP:0000175 Cleft palate OMIM:300263 PHF8 23133 HP:0100335 Non-midline cleft lip OMIM:300263 PHF8 23133 HP:0001177 Preaxial hand polydactyly OMIM:300263 PHF8 23133 HP:0000664 Synophrys OMIM:613489 COG4 25839 HP:0001508 Failure to thrive OMIM:613489 COG4 25839 HP:0000007 Autosomal recessive inheritance OMIM:613489 COG4 25839 HP:0011968 Feeding difficulties OMIM:613489 COG4 25839 HP:0002079 Hypoplasia of the corpus callosum OMIM:613489 COG4 25839 HP:0002910 Elevated hepatic transaminases OMIM:613489 COG4 25839 HP:0001394 Cirrhosis OMIM:613489 COG4 25839 HP:0004798 Recurrent infection of the gastrointestinal tract OMIM:613489 COG4 25839 HP:0100874 Thick hair OMIM:613489 COG4 25839 HP:0000737 Irritability OMIM:613489 COG4 25839 HP:0002028 Chronic diarrhea OMIM:613489 COG4 25839 HP:0001999 Abnormal facial shape OMIM:613489 COG4 25839 HP:0002240 Hepatomegaly OMIM:613489 COG4 25839 HP:0001344 Absent speech OMIM:613489 COG4 25839 HP:0001399 Hepatic failure OMIM:613489 COG4 25839 HP:0001251 Ataxia OMIM:613489 COG4 25839 HP:0000639 Nystagmus OMIM:613489 COG4 25839 HP:0008936 Muscular hypotonia of the trunk OMIM:613489 COG4 25839 HP:0002059 Cerebral atrophy OMIM:613489 COG4 25839 HP:0000252 Microcephaly OMIM:613489 COG4 25839 HP:0003155 Elevated alkaline phosphatase OMIM:613489 COG4 25839 HP:0002205 Recurrent respiratory infections OMIM:613489 COG4 25839 HP:0001250 Seizures OMIM:613489 COG4 25839 HP:0001744 Splenomegaly OMIM:614433 CITED2 10370 HP:0001631 Defect in the atrial septum OMIM:614433 CITED2 10370 HP:0000006 Autosomal dominant inheritance OMIM:614160 MSTN 2660 HP:0000007 Autosomal recessive inheritance OMIM:614160 MSTN 2660 HP:0003712 Skeletal muscle hypertrophy OMIM:188055 F5 2153 HP:0000006 Autosomal dominant inheritance OMIM:188055 F5 2153 HP:0003581 Adult onset OMIM:188055 F5 2153 HP:0002625 Deep venous thrombosis OMIM:188055 F5 2153 HP:0012175 Resistance to activated protein C OMIM:188055 F5 2153 HP:0100602 Preeclampsia OMIM:188055 F5 2153 HP:0100724 Hypercoagulability OMIM:188055 F5 2153 HP:0003645 Prolonged partial thromboplastin time OMIM:616410 TRPC3 7222 HP:0002317 Unsteady gait OMIM:616410 TRPC3 7222 HP:0001272 Cerebellar atrophy OMIM:193510 MITF 4286 HP:0001022 Albinism OMIM:193510 MITF 4286 HP:0000431 Wide nasal bridge OMIM:193510 MITF 4286 HP:0003828 Variable expressivity OMIM:193510 MITF 4286 HP:0002211 White forelock OMIM:193510 MITF 4286 HP:0002226 White eyebrow OMIM:193510 MITF 4286 HP:0002227 White eyelashes OMIM:193510 MITF 4286 HP:0007990 Hypoplastic iris stroma OMIM:193510 MITF 4286 HP:0002216 Premature graying of hair OMIM:193510 MITF 4286 HP:0001425 Heterogeneous OMIM:193510 MITF 4286 HP:0000664 Synophrys OMIM:193510 MITF 4286 HP:0008527 Congenital sensorineural hearing impairment OMIM:193510 MITF 4286 HP:0001100 Heterochromia iridis OMIM:193510 MITF 4286 HP:0007443 Partial albinism OMIM:193510 MITF 4286 HP:0000006 Autosomal dominant inheritance OMIM:193510 MITF 4286 HP:0000430 Underdeveloped nasal alae OMIM:615517 FTH1 2495 HP:0003281 Increased serum ferritin OMIM:615517 FTH1 2495 HP:0000006 Autosomal dominant inheritance ORPHANET:65 LRAT 9227 HP:0002084 Encephalocele ORPHANET:65 LRAT 9227 HP:0007703 Abnormal retinal pigmentation ORPHANET:65 LRAT 9227 HP:0002269 Abnormality of neuronal migration ORPHANET:65 LRAT 9227 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:65 LRAT 9227 HP:0000639 Nystagmus ORPHANET:65 LRAT 9227 HP:0000648 Optic atrophy ORPHANET:65 LRAT 9227 HP:0100689 Decreased corneal thickness ORPHANET:65 LRAT 9227 HP:0000365 Hearing impairment ORPHANET:65 LRAT 9227 HP:0100543 Cognitive impairment ORPHANET:65 LRAT 9227 HP:0000518 Cataract ORPHANET:65 LRAT 9227 HP:0004374 Hemiplegia/hemiparesis ORPHANET:65 LRAT 9227 HP:0000505 Visual impairment ORPHANET:65 LRAT 9227 HP:0001250 Seizures ORPHANET:65 LRAT 9227 HP:0000512 Abnormal electroretinogram ORPHANET:65 LRAT 9227 HP:0001252 Muscular hypotonia ORPHANET:65 CRX 1406 HP:0002084 Encephalocele ORPHANET:65 CRX 1406 HP:0007703 Abnormal retinal pigmentation ORPHANET:65 CRX 1406 HP:0002269 Abnormality of neuronal migration ORPHANET:65 CRX 1406 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:65 CRX 1406 HP:0000639 Nystagmus ORPHANET:65 CRX 1406 HP:0000648 Optic atrophy ORPHANET:65 CRX 1406 HP:0100689 Decreased corneal thickness ORPHANET:65 CRX 1406 HP:0000365 Hearing impairment ORPHANET:65 CRX 1406 HP:0100543 Cognitive impairment ORPHANET:65 CRX 1406 HP:0000518 Cataract ORPHANET:65 CRX 1406 HP:0004374 Hemiplegia/hemiparesis ORPHANET:65 CRX 1406 HP:0000505 Visual impairment ORPHANET:65 CRX 1406 HP:0001250 Seizures ORPHANET:65 CRX 1406 HP:0000512 Abnormal electroretinogram ORPHANET:65 CRX 1406 HP:0001252 Muscular hypotonia ORPHANET:65 IMPDH1 3614 HP:0002084 Encephalocele ORPHANET:65 IMPDH1 3614 HP:0007703 Abnormal retinal pigmentation ORPHANET:65 IMPDH1 3614 HP:0002269 Abnormality of neuronal migration ORPHANET:65 IMPDH1 3614 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:65 IMPDH1 3614 HP:0000639 Nystagmus ORPHANET:65 IMPDH1 3614 HP:0000648 Optic atrophy ORPHANET:65 IMPDH1 3614 HP:0100689 Decreased corneal thickness ORPHANET:65 IMPDH1 3614 HP:0000365 Hearing impairment ORPHANET:65 IMPDH1 3614 HP:0100543 Cognitive impairment ORPHANET:65 IMPDH1 3614 HP:0000518 Cataract ORPHANET:65 IMPDH1 3614 HP:0004374 Hemiplegia/hemiparesis ORPHANET:65 IMPDH1 3614 HP:0000505 Visual impairment ORPHANET:65 IMPDH1 3614 HP:0001250 Seizures ORPHANET:65 IMPDH1 3614 HP:0000512 Abnormal electroretinogram ORPHANET:65 IMPDH1 3614 HP:0001252 Muscular hypotonia ORPHANET:65 NMNAT1 64802 HP:0002084 Encephalocele ORPHANET:65 NMNAT1 64802 HP:0007703 Abnormal retinal pigmentation ORPHANET:65 NMNAT1 64802 HP:0002269 Abnormality of neuronal migration ORPHANET:65 NMNAT1 64802 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:65 NMNAT1 64802 HP:0000639 Nystagmus ORPHANET:65 NMNAT1 64802 HP:0000648 Optic atrophy ORPHANET:65 NMNAT1 64802 HP:0100689 Decreased corneal thickness ORPHANET:65 NMNAT1 64802 HP:0000365 Hearing impairment ORPHANET:65 NMNAT1 64802 HP:0100543 Cognitive impairment ORPHANET:65 NMNAT1 64802 HP:0000518 Cataract ORPHANET:65 NMNAT1 64802 HP:0004374 Hemiplegia/hemiparesis ORPHANET:65 NMNAT1 64802 HP:0000505 Visual impairment ORPHANET:65 NMNAT1 64802 HP:0001250 Seizures ORPHANET:65 NMNAT1 64802 HP:0000512 Abnormal electroretinogram ORPHANET:65 NMNAT1 64802 HP:0001252 Muscular hypotonia ORPHANET:65 RD3 343035 HP:0002084 Encephalocele ORPHANET:65 RD3 343035 HP:0007703 Abnormal retinal pigmentation ORPHANET:65 RD3 343035 HP:0002269 Abnormality of neuronal migration ORPHANET:65 RD3 343035 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:65 RD3 343035 HP:0000639 Nystagmus ORPHANET:65 RD3 343035 HP:0000648 Optic atrophy ORPHANET:65 RD3 343035 HP:0100689 Decreased corneal thickness ORPHANET:65 RD3 343035 HP:0000365 Hearing impairment ORPHANET:65 RD3 343035 HP:0100543 Cognitive impairment ORPHANET:65 RD3 343035 HP:0000518 Cataract ORPHANET:65 RD3 343035 HP:0004374 Hemiplegia/hemiparesis ORPHANET:65 RD3 343035 HP:0000505 Visual impairment ORPHANET:65 RD3 343035 HP:0001250 Seizures ORPHANET:65 RD3 343035 HP:0000512 Abnormal electroretinogram ORPHANET:65 RD3 343035 HP:0001252 Muscular hypotonia ORPHANET:65 TULP1 7287 HP:0002084 Encephalocele ORPHANET:65 TULP1 7287 HP:0007703 Abnormal retinal pigmentation ORPHANET:65 TULP1 7287 HP:0002269 Abnormality of neuronal migration ORPHANET:65 TULP1 7287 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:65 TULP1 7287 HP:0000639 Nystagmus ORPHANET:65 TULP1 7287 HP:0000648 Optic atrophy ORPHANET:65 TULP1 7287 HP:0100689 Decreased corneal thickness ORPHANET:65 TULP1 7287 HP:0000365 Hearing impairment ORPHANET:65 TULP1 7287 HP:0100543 Cognitive impairment ORPHANET:65 TULP1 7287 HP:0000518 Cataract ORPHANET:65 TULP1 7287 HP:0004374 Hemiplegia/hemiparesis ORPHANET:65 TULP1 7287 HP:0000505 Visual impairment ORPHANET:65 TULP1 7287 HP:0001250 Seizures ORPHANET:65 TULP1 7287 HP:0000512 Abnormal electroretinogram ORPHANET:65 TULP1 7287 HP:0001252 Muscular hypotonia ORPHANET:65 RPGRIP1 57096 HP:0002084 Encephalocele ORPHANET:65 RPGRIP1 57096 HP:0007703 Abnormal retinal pigmentation ORPHANET:65 RPGRIP1 57096 HP:0002269 Abnormality of neuronal migration ORPHANET:65 RPGRIP1 57096 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:65 RPGRIP1 57096 HP:0000639 Nystagmus ORPHANET:65 RPGRIP1 57096 HP:0000648 Optic atrophy ORPHANET:65 RPGRIP1 57096 HP:0100689 Decreased corneal thickness ORPHANET:65 RPGRIP1 57096 HP:0000365 Hearing impairment ORPHANET:65 RPGRIP1 57096 HP:0100543 Cognitive impairment ORPHANET:65 RPGRIP1 57096 HP:0000518 Cataract ORPHANET:65 RPGRIP1 57096 HP:0004374 Hemiplegia/hemiparesis ORPHANET:65 RPGRIP1 57096 HP:0000505 Visual impairment ORPHANET:65 RPGRIP1 57096 HP:0001250 Seizures ORPHANET:65 RPGRIP1 57096 HP:0000512 Abnormal electroretinogram ORPHANET:65 RPGRIP1 57096 HP:0001252 Muscular hypotonia ORPHANET:65 CEP290 80184 HP:0002084 Encephalocele ORPHANET:65 CEP290 80184 HP:0007703 Abnormal retinal pigmentation ORPHANET:65 CEP290 80184 HP:0002269 Abnormality of neuronal migration ORPHANET:65 CEP290 80184 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:65 CEP290 80184 HP:0000639 Nystagmus ORPHANET:65 CEP290 80184 HP:0000648 Optic atrophy ORPHANET:65 CEP290 80184 HP:0100689 Decreased corneal thickness ORPHANET:65 CEP290 80184 HP:0000365 Hearing impairment ORPHANET:65 CEP290 80184 HP:0100543 Cognitive impairment ORPHANET:65 CEP290 80184 HP:0000518 Cataract ORPHANET:65 CEP290 80184 HP:0004374 Hemiplegia/hemiparesis ORPHANET:65 CEP290 80184 HP:0000505 Visual impairment ORPHANET:65 CEP290 80184 HP:0001250 Seizures ORPHANET:65 CEP290 80184 HP:0000512 Abnormal electroretinogram ORPHANET:65 CEP290 80184 HP:0001252 Muscular hypotonia ORPHANET:65 IQCB1 9657 HP:0002084 Encephalocele ORPHANET:65 IQCB1 9657 HP:0007703 Abnormal retinal pigmentation ORPHANET:65 IQCB1 9657 HP:0002269 Abnormality of neuronal migration ORPHANET:65 IQCB1 9657 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:65 IQCB1 9657 HP:0000639 Nystagmus ORPHANET:65 IQCB1 9657 HP:0000648 Optic atrophy ORPHANET:65 IQCB1 9657 HP:0100689 Decreased corneal thickness ORPHANET:65 IQCB1 9657 HP:0000365 Hearing impairment ORPHANET:65 IQCB1 9657 HP:0100543 Cognitive impairment ORPHANET:65 IQCB1 9657 HP:0000518 Cataract ORPHANET:65 IQCB1 9657 HP:0004374 Hemiplegia/hemiparesis ORPHANET:65 IQCB1 9657 HP:0000505 Visual impairment ORPHANET:65 IQCB1 9657 HP:0001250 Seizures ORPHANET:65 IQCB1 9657 HP:0000512 Abnormal electroretinogram ORPHANET:65 IQCB1 9657 HP:0001252 Muscular hypotonia ORPHANET:65 KCNJ13 3769 HP:0002084 Encephalocele ORPHANET:65 KCNJ13 3769 HP:0007703 Abnormal retinal pigmentation ORPHANET:65 KCNJ13 3769 HP:0002269 Abnormality of neuronal migration ORPHANET:65 KCNJ13 3769 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:65 KCNJ13 3769 HP:0000639 Nystagmus ORPHANET:65 KCNJ13 3769 HP:0000648 Optic atrophy ORPHANET:65 KCNJ13 3769 HP:0100689 Decreased corneal thickness ORPHANET:65 KCNJ13 3769 HP:0000365 Hearing impairment ORPHANET:65 KCNJ13 3769 HP:0100543 Cognitive impairment ORPHANET:65 KCNJ13 3769 HP:0000518 Cataract ORPHANET:65 KCNJ13 3769 HP:0004374 Hemiplegia/hemiparesis ORPHANET:65 KCNJ13 3769 HP:0000505 Visual impairment ORPHANET:65 KCNJ13 3769 HP:0001250 Seizures ORPHANET:65 KCNJ13 3769 HP:0000512 Abnormal electroretinogram ORPHANET:65 KCNJ13 3769 HP:0001252 Muscular hypotonia ORPHANET:65 LCA5 167691 HP:0002084 Encephalocele ORPHANET:65 LCA5 167691 HP:0007703 Abnormal retinal pigmentation ORPHANET:65 LCA5 167691 HP:0002269 Abnormality of neuronal migration ORPHANET:65 LCA5 167691 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:65 LCA5 167691 HP:0000639 Nystagmus ORPHANET:65 LCA5 167691 HP:0000648 Optic atrophy ORPHANET:65 LCA5 167691 HP:0100689 Decreased corneal thickness ORPHANET:65 LCA5 167691 HP:0000365 Hearing impairment ORPHANET:65 LCA5 167691 HP:0100543 Cognitive impairment ORPHANET:65 LCA5 167691 HP:0000518 Cataract ORPHANET:65 LCA5 167691 HP:0004374 Hemiplegia/hemiparesis ORPHANET:65 LCA5 167691 HP:0000505 Visual impairment ORPHANET:65 LCA5 167691 HP:0001250 Seizures ORPHANET:65 LCA5 167691 HP:0000512 Abnormal electroretinogram ORPHANET:65 LCA5 167691 HP:0001252 Muscular hypotonia ORPHANET:65 RDH12 145226 HP:0002084 Encephalocele ORPHANET:65 RDH12 145226 HP:0007703 Abnormal retinal pigmentation ORPHANET:65 RDH12 145226 HP:0002269 Abnormality of neuronal migration ORPHANET:65 RDH12 145226 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:65 RDH12 145226 HP:0000639 Nystagmus ORPHANET:65 RDH12 145226 HP:0000648 Optic atrophy ORPHANET:65 RDH12 145226 HP:0100689 Decreased corneal thickness ORPHANET:65 RDH12 145226 HP:0000365 Hearing impairment ORPHANET:65 RDH12 145226 HP:0100543 Cognitive impairment ORPHANET:65 RDH12 145226 HP:0000518 Cataract ORPHANET:65 RDH12 145226 HP:0004374 Hemiplegia/hemiparesis ORPHANET:65 RDH12 145226 HP:0000505 Visual impairment ORPHANET:65 RDH12 145226 HP:0001250 Seizures ORPHANET:65 RDH12 145226 HP:0000512 Abnormal electroretinogram ORPHANET:65 RDH12 145226 HP:0001252 Muscular hypotonia ORPHANET:65 AIPL1 23746 HP:0002084 Encephalocele ORPHANET:65 AIPL1 23746 HP:0007703 Abnormal retinal pigmentation ORPHANET:65 AIPL1 23746 HP:0002269 Abnormality of neuronal migration ORPHANET:65 AIPL1 23746 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:65 AIPL1 23746 HP:0000639 Nystagmus ORPHANET:65 AIPL1 23746 HP:0000648 Optic atrophy ORPHANET:65 AIPL1 23746 HP:0100689 Decreased corneal thickness ORPHANET:65 AIPL1 23746 HP:0000365 Hearing impairment ORPHANET:65 AIPL1 23746 HP:0100543 Cognitive impairment ORPHANET:65 AIPL1 23746 HP:0000518 Cataract ORPHANET:65 AIPL1 23746 HP:0004374 Hemiplegia/hemiparesis ORPHANET:65 AIPL1 23746 HP:0000505 Visual impairment ORPHANET:65 AIPL1 23746 HP:0001250 Seizures ORPHANET:65 AIPL1 23746 HP:0000512 Abnormal electroretinogram ORPHANET:65 AIPL1 23746 HP:0001252 Muscular hypotonia ORPHANET:65 GUCY2D 3000 HP:0002084 Encephalocele ORPHANET:65 GUCY2D 3000 HP:0007703 Abnormal retinal pigmentation ORPHANET:65 GUCY2D 3000 HP:0002269 Abnormality of neuronal migration ORPHANET:65 GUCY2D 3000 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:65 GUCY2D 3000 HP:0000639 Nystagmus ORPHANET:65 GUCY2D 3000 HP:0000648 Optic atrophy ORPHANET:65 GUCY2D 3000 HP:0100689 Decreased corneal thickness ORPHANET:65 GUCY2D 3000 HP:0000365 Hearing impairment ORPHANET:65 GUCY2D 3000 HP:0100543 Cognitive impairment ORPHANET:65 GUCY2D 3000 HP:0000518 Cataract ORPHANET:65 GUCY2D 3000 HP:0004374 Hemiplegia/hemiparesis ORPHANET:65 GUCY2D 3000 HP:0000505 Visual impairment ORPHANET:65 GUCY2D 3000 HP:0001250 Seizures ORPHANET:65 GUCY2D 3000 HP:0000512 Abnormal electroretinogram ORPHANET:65 GUCY2D 3000 HP:0001252 Muscular hypotonia ORPHANET:65 RPE65 6121 HP:0002084 Encephalocele ORPHANET:65 RPE65 6121 HP:0007703 Abnormal retinal pigmentation ORPHANET:65 RPE65 6121 HP:0002269 Abnormality of neuronal migration ORPHANET:65 RPE65 6121 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:65 RPE65 6121 HP:0000639 Nystagmus ORPHANET:65 RPE65 6121 HP:0000648 Optic atrophy ORPHANET:65 RPE65 6121 HP:0100689 Decreased corneal thickness ORPHANET:65 RPE65 6121 HP:0000365 Hearing impairment ORPHANET:65 RPE65 6121 HP:0100543 Cognitive impairment ORPHANET:65 RPE65 6121 HP:0000518 Cataract ORPHANET:65 RPE65 6121 HP:0004374 Hemiplegia/hemiparesis ORPHANET:65 RPE65 6121 HP:0000505 Visual impairment ORPHANET:65 RPE65 6121 HP:0001250 Seizures ORPHANET:65 RPE65 6121 HP:0000512 Abnormal electroretinogram ORPHANET:65 RPE65 6121 HP:0001252 Muscular hypotonia ORPHANET:65 SPATA7 55812 HP:0002084 Encephalocele ORPHANET:65 SPATA7 55812 HP:0007703 Abnormal retinal pigmentation ORPHANET:65 SPATA7 55812 HP:0002269 Abnormality of neuronal migration ORPHANET:65 SPATA7 55812 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:65 SPATA7 55812 HP:0000639 Nystagmus ORPHANET:65 SPATA7 55812 HP:0000648 Optic atrophy ORPHANET:65 SPATA7 55812 HP:0100689 Decreased corneal thickness ORPHANET:65 SPATA7 55812 HP:0000365 Hearing impairment ORPHANET:65 SPATA7 55812 HP:0100543 Cognitive impairment ORPHANET:65 SPATA7 55812 HP:0000518 Cataract ORPHANET:65 SPATA7 55812 HP:0004374 Hemiplegia/hemiparesis ORPHANET:65 SPATA7 55812 HP:0000505 Visual impairment ORPHANET:65 SPATA7 55812 HP:0001250 Seizures ORPHANET:65 SPATA7 55812 HP:0000512 Abnormal electroretinogram ORPHANET:65 SPATA7 55812 HP:0001252 Muscular hypotonia ORPHANET:65 GDF6 392255 HP:0002084 Encephalocele ORPHANET:65 GDF6 392255 HP:0007703 Abnormal retinal pigmentation ORPHANET:65 GDF6 392255 HP:0002269 Abnormality of neuronal migration ORPHANET:65 GDF6 392255 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:65 GDF6 392255 HP:0000639 Nystagmus ORPHANET:65 GDF6 392255 HP:0000648 Optic atrophy ORPHANET:65 GDF6 392255 HP:0100689 Decreased corneal thickness ORPHANET:65 GDF6 392255 HP:0000365 Hearing impairment ORPHANET:65 GDF6 392255 HP:0100543 Cognitive impairment ORPHANET:65 GDF6 392255 HP:0000518 Cataract ORPHANET:65 GDF6 392255 HP:0004374 Hemiplegia/hemiparesis ORPHANET:65 GDF6 392255 HP:0000505 Visual impairment ORPHANET:65 GDF6 392255 HP:0001250 Seizures ORPHANET:65 GDF6 392255 HP:0000512 Abnormal electroretinogram ORPHANET:65 GDF6 392255 HP:0001252 Muscular hypotonia ORPHANET:65 CRB1 23418 HP:0002084 Encephalocele ORPHANET:65 CRB1 23418 HP:0007703 Abnormal retinal pigmentation ORPHANET:65 CRB1 23418 HP:0002269 Abnormality of neuronal migration ORPHANET:65 CRB1 23418 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:65 CRB1 23418 HP:0000639 Nystagmus ORPHANET:65 CRB1 23418 HP:0000648 Optic atrophy ORPHANET:65 CRB1 23418 HP:0100689 Decreased corneal thickness ORPHANET:65 CRB1 23418 HP:0000365 Hearing impairment ORPHANET:65 CRB1 23418 HP:0100543 Cognitive impairment ORPHANET:65 CRB1 23418 HP:0000518 Cataract ORPHANET:65 CRB1 23418 HP:0004374 Hemiplegia/hemiparesis ORPHANET:65 CRB1 23418 HP:0000505 Visual impairment ORPHANET:65 CRB1 23418 HP:0001250 Seizures ORPHANET:65 CRB1 23418 HP:0000512 Abnormal electroretinogram ORPHANET:65 CRB1 23418 HP:0001252 Muscular hypotonia OMIM:603776 PCSK9 255738 HP:0003124 Hypercholesterolemia OMIM:603776 PCSK9 255738 HP:0000006 Autosomal dominant inheritance OMIM:249700 SHOX 6473 HP:0000174 Abnormality of the palate OMIM:249700 SHOX 6473 HP:0003022 Hypoplasia of the ulna OMIM:249700 SHOX 6473 HP:0003993 Broad ulna OMIM:249700 SHOX 6473 HP:0005930 Abnormality of epiphysis morphology OMIM:249700 SHOX 6473 HP:0002983 Micromelia OMIM:249700 SHOX 6473 HP:0002984 Hypoplasia of the radius OMIM:249700 SHOX 6473 HP:0002986 Radial bowing OMIM:249700 SHOX 6473 HP:0100864 Short femoral neck OMIM:249700 SHOX 6473 HP:0002823 Abnormality of the femur OMIM:249700 SHOX 6473 HP:0009465 Ulnar deviation of finger OMIM:249700 SHOX 6473 HP:0003067 Madelung deformity OMIM:249700 SHOX 6473 HP:0006436 Shortening of the tibia OMIM:249700 SHOX 6473 HP:0006381 Rudimentary fibula OMIM:249700 SHOX 6473 HP:0002991 Abnormality of the fibula OMIM:249700 SHOX 6473 HP:0000007 Autosomal recessive inheritance OMIM:249700 SHOX 6473 HP:0008845 Mesomelic short stature OMIM:249700 SHOX 6473 HP:0000347 Micrognathia OMIM:249700 SHOX 6473 HP:0004322 Short stature OMIM:249700 SHOX 6473 HP:0002938 Lumbar hyperlordosis OMIM:249700 SHOX 6473 HP:0003027 Mesomelia OMIM:248000 TBC1D7 51256 HP:0000280 Coarse facial features OMIM:248000 TBC1D7 51256 HP:0001355 Megalencephaly OMIM:248000 TBC1D7 51256 HP:0000256 Macrocephaly OMIM:248000 TBC1D7 51256 HP:0008239 Adrenal medullary hypoplasia OMIM:248000 TBC1D7 51256 HP:0000303 Mandibular prognathia OMIM:248000 TBC1D7 51256 HP:0000648 Optic atrophy OMIM:248000 TBC1D7 51256 HP:0010499 Patellar subluxation OMIM:248000 TBC1D7 51256 HP:0003011 Abnormality of the musculature OMIM:248000 TBC1D7 51256 HP:0000709 Psychosis OMIM:248000 TBC1D7 51256 HP:0000483 Astigmatism OMIM:248000 TBC1D7 51256 HP:0000337 Broad forehead OMIM:248000 TBC1D7 51256 HP:0000307 Pointed chin OMIM:248000 TBC1D7 51256 HP:0000545 Myopia OMIM:248000 TBC1D7 51256 HP:0001249 Intellectual disability OMIM:248000 TBC1D7 51256 HP:0000268 Dolichocephaly OMIM:248000 TBC1D7 51256 HP:0001263 Global developmental delay OMIM:248000 TBC1D7 51256 HP:0000750 Delayed speech and language development OMIM:235200 HFE 3077 HP:0002910 Elevated hepatic transaminases OMIM:235200 HFE 3077 HP:0002240 Hepatomegaly OMIM:235200 HFE 3077 HP:0000044 Hypogonadotrophic hypogonadism OMIM:235200 HFE 3077 HP:0003452 Increased serum iron OMIM:235200 HFE 3077 HP:0001640 Cardiomegaly OMIM:235200 HFE 3077 HP:0001638 Cardiomyopathy OMIM:235200 HFE 3077 HP:0001744 Splenomegaly OMIM:235200 HFE 3077 HP:0001009 Telangiectasia OMIM:235200 HFE 3077 HP:0000939 Osteoporosis OMIM:235200 HFE 3077 HP:0000141 Amenorrhea OMIM:235200 HFE 3077 HP:0001952 Abnormal glucose tolerance OMIM:235200 HFE 3077 HP:0000953 Hyperpigmentation of the skin OMIM:235200 HFE 3077 HP:0000007 Autosomal recessive inheritance OMIM:235200 HFE 3077 HP:0001596 Alopecia OMIM:235200 HFE 3077 HP:0002202 Pleural effusion OMIM:235200 HFE 3077 HP:0000819 Diabetes mellitus OMIM:235200 HFE 3077 HP:0000802 Impotence OMIM:235200 HFE 3077 HP:0000029 Testicular atrophy OMIM:235200 HFE 3077 HP:0001541 Ascites OMIM:235200 HFE 3077 HP:0001635 Congestive heart failure OMIM:235200 HFE 3077 HP:0003281 Increased serum ferritin OMIM:235200 HFE 3077 HP:0011675 Arrhythmia OMIM:235200 HFE 3077 HP:0001402 Hepatocellular carcinoma OMIM:235200 HFE 3077 HP:0000027 Azoospermia OMIM:235200 HFE 3077 HP:0003040 Arthropathy OMIM:235200 HFE 3077 HP:0001394 Cirrhosis ORPHANET:35099 TWIST1 7291 HP:0000520 Proptosis ORPHANET:35099 TWIST1 7291 HP:0002516 Increased intracranial pressure ORPHANET:35099 TWIST1 7291 HP:0001163 Abnormality of the metacarpal bones ORPHANET:35099 TWIST1 7291 HP:0000365 Hearing impairment ORPHANET:35099 TWIST1 7291 HP:0000337 Broad forehead ORPHANET:35099 TWIST1 7291 HP:0001156 Brachydactyly syndrome ORPHANET:35099 TWIST1 7291 HP:0000272 Malar flattening ORPHANET:35099 TWIST1 7291 HP:0009891 Underdeveloped supraorbital ridges ORPHANET:35099 TWIST1 7291 HP:0002648 Abnormality of calvarial morphology ORPHANET:35099 TWIST1 7291 HP:0000316 Hypertelorism ORPHANET:35099 TWIST1 7291 HP:0100543 Cognitive impairment ORPHANET:35099 FGFR3 2261 HP:0000520 Proptosis ORPHANET:35099 FGFR3 2261 HP:0002516 Increased intracranial pressure ORPHANET:35099 FGFR3 2261 HP:0001163 Abnormality of the metacarpal bones ORPHANET:35099 FGFR3 2261 HP:0000365 Hearing impairment ORPHANET:35099 FGFR3 2261 HP:0000337 Broad forehead ORPHANET:35099 FGFR3 2261 HP:0001156 Brachydactyly syndrome ORPHANET:35099 FGFR3 2261 HP:0000272 Malar flattening ORPHANET:35099 FGFR3 2261 HP:0009891 Underdeveloped supraorbital ridges ORPHANET:35099 FGFR3 2261 HP:0002648 Abnormality of calvarial morphology ORPHANET:35099 FGFR3 2261 HP:0000316 Hypertelorism ORPHANET:35099 FGFR3 2261 HP:0100543 Cognitive impairment ORPHANET:35099 TCF12 6938 HP:0000520 Proptosis ORPHANET:35099 TCF12 6938 HP:0002516 Increased intracranial pressure ORPHANET:35099 TCF12 6938 HP:0001163 Abnormality of the metacarpal bones ORPHANET:35099 TCF12 6938 HP:0000365 Hearing impairment ORPHANET:35099 TCF12 6938 HP:0000337 Broad forehead ORPHANET:35099 TCF12 6938 HP:0001156 Brachydactyly syndrome ORPHANET:35099 TCF12 6938 HP:0000272 Malar flattening ORPHANET:35099 TCF12 6938 HP:0009891 Underdeveloped supraorbital ridges ORPHANET:35099 TCF12 6938 HP:0002648 Abnormality of calvarial morphology ORPHANET:35099 TCF12 6938 HP:0000316 Hypertelorism ORPHANET:35099 TCF12 6938 HP:0100543 Cognitive impairment ORPHANET:869 AAAS 8086 HP:0000982 Palmoplantar keratoderma ORPHANET:869 AAAS 8086 HP:0002093 Respiratory insufficiency ORPHANET:869 AAAS 8086 HP:0000830 Anterior hypopituitarism ORPHANET:869 AAAS 8086 HP:0002311 Incoordination ORPHANET:869 AAAS 8086 HP:0000252 Microcephaly ORPHANET:869 AAAS 8086 HP:0000648 Optic atrophy ORPHANET:869 AAAS 8086 HP:0000612 Iris coloboma ORPHANET:869 AAAS 8086 HP:0001250 Seizures ORPHANET:869 AAAS 8086 HP:0004322 Short stature ORPHANET:869 AAAS 8086 HP:0007440 Generalized hyperpigmentation ORPHANET:869 AAAS 8086 HP:0002376 Developmental regression ORPHANET:869 AAAS 8086 HP:0000407 Sensorineural hearing impairment ORPHANET:869 AAAS 8086 HP:0000505 Visual impairment ORPHANET:869 AAAS 8086 HP:0001252 Muscular hypotonia ORPHANET:869 AAAS 8086 HP:0001347 Hyperreflexia ORPHANET:869 AAAS 8086 HP:0008207 Primary adrenal insufficiency ORPHANET:869 GMPPA 29926 HP:0000982 Palmoplantar keratoderma ORPHANET:869 GMPPA 29926 HP:0002093 Respiratory insufficiency ORPHANET:869 GMPPA 29926 HP:0000830 Anterior hypopituitarism ORPHANET:869 GMPPA 29926 HP:0002311 Incoordination ORPHANET:869 GMPPA 29926 HP:0000252 Microcephaly ORPHANET:869 GMPPA 29926 HP:0000648 Optic atrophy ORPHANET:869 GMPPA 29926 HP:0000612 Iris coloboma ORPHANET:869 GMPPA 29926 HP:0001250 Seizures ORPHANET:869 GMPPA 29926 HP:0004322 Short stature ORPHANET:869 GMPPA 29926 HP:0007440 Generalized hyperpigmentation ORPHANET:869 GMPPA 29926 HP:0002376 Developmental regression ORPHANET:869 GMPPA 29926 HP:0000407 Sensorineural hearing impairment ORPHANET:869 GMPPA 29926 HP:0000505 Visual impairment ORPHANET:869 GMPPA 29926 HP:0001252 Muscular hypotonia ORPHANET:869 GMPPA 29926 HP:0001347 Hyperreflexia ORPHANET:869 GMPPA 29926 HP:0008207 Primary adrenal insufficiency OMIM:606664 GNMT 27232 HP:0003235 Hypermethioninemia OMIM:606664 GNMT 27232 HP:0002910 Elevated hepatic transaminases OMIM:606664 GNMT 27232 HP:0000007 Autosomal recessive inheritance OMIM:606664 GNMT 27232 HP:0002240 Hepatomegaly OMIM:614563 DYNC1H1 1778 HP:0200055 Small hand OMIM:614563 DYNC1H1 1778 HP:0001250 Seizures OMIM:614563 DYNC1H1 1778 HP:0002079 Hypoplasia of the corpus callosum OMIM:614563 DYNC1H1 1778 HP:0000006 Autosomal dominant inheritance OMIM:614563 DYNC1H1 1778 HP:0001321 Cerebellar hypoplasia OMIM:614563 DYNC1H1 1778 HP:0000494 Downslanted palpebral fissures OMIM:614563 DYNC1H1 1778 HP:0002510 Spastic tetraplegia OMIM:614563 DYNC1H1 1778 HP:0001357 Plagiocephaly OMIM:614563 DYNC1H1 1778 HP:0003477 Peripheral axonal neuropathy OMIM:614563 DYNC1H1 1778 HP:0001249 Intellectual disability OMIM:614563 DYNC1H1 1778 HP:0001302 Pachygyria OMIM:614563 DYNC1H1 1778 HP:0007359 Focal seizures OMIM:614563 DYNC1H1 1778 HP:0001252 Muscular hypotonia OMIM:614563 DYNC1H1 1778 HP:0001265 Hyporeflexia OMIM:614563 DYNC1H1 1778 HP:0001288 Gait disturbance OMIM:614563 DYNC1H1 1778 HP:0002365 Hypoplasia of the brainstem OMIM:614563 DYNC1H1 1778 HP:0001760 Abnormality of the foot OMIM:614563 DYNC1H1 1778 HP:0011220 Prominent forehead OMIM:614563 DYNC1H1 1778 HP:0000252 Microcephaly OMIM:607475 RLBP1 6017 HP:0000556 Retinal dystrophy OMIM:607475 RLBP1 6017 HP:0000007 Autosomal recessive inheritance OMIM:607475 RLBP1 6017 HP:0000608 Macular degeneration OMIM:607475 RLBP1 6017 HP:0000662 Night blindness OMIM:607475 RLBP1 6017 HP:0000512 Abnormal electroretinogram OMIM:615518 UNC119 9094 HP:0001888 Lymphopenia OMIM:615518 UNC119 9094 HP:0002721 Immunodeficiency OMIM:615518 UNC119 9094 HP:0011945 Bronchiolitis obliterans organizing pneumonia OMIM:615518 UNC119 9094 HP:0011108 Recurrent sinusitis OMIM:615518 UNC119 9094 HP:0000403 Recurrent otitis media OMIM:615518 UNC119 9094 HP:0000006 Autosomal dominant inheritance OMIM:614431 CITED2 10370 HP:0000006 Autosomal dominant inheritance OMIM:614431 CITED2 10370 HP:0011682 Perimembranous ventricular septal defect OMIM:303400 TBX22 50945 HP:0010296 Ankyloglossia OMIM:303400 TBX22 50945 HP:0000175 Cleft palate OMIM:303400 TBX22 50945 HP:0001417 X-linked inheritance OMIM:303400 TBX22 50945 HP:0000193 Bifid uvula OMIM:610188 CEP290 80184 HP:0000547 Tapetoretinal degeneration OMIM:610188 CEP290 80184 HP:0001251 Ataxia OMIM:610188 CEP290 80184 HP:0000657 Oculomotor apraxia OMIM:610188 CEP290 80184 HP:0001249 Intellectual disability OMIM:610188 CEP290 80184 HP:0002876 Episodic tachypnea OMIM:610188 CEP290 80184 HP:0000480 Retinal coloboma OMIM:610188 CEP290 80184 HP:0006817 Aplasia/Hypoplasia of the cerebellar vermis OMIM:610188 CEP290 80184 HP:0002871 Central apnea OMIM:610188 CEP290 80184 HP:0000803 Renal cortical cysts OMIM:610188 CEP290 80184 HP:0000090 Nephronophthisis OMIM:610188 CEP290 80184 HP:0004727 Impaired renal concentrating ability OMIM:610188 CEP290 80184 HP:0003774 Stage 5 chronic kidney disease OMIM:610188 CEP290 80184 HP:0007875 Congenital blindness OMIM:610188 CEP290 80184 HP:0000007 Autosomal recessive inheritance OMIM:610188 CEP290 80184 HP:0000639 Nystagmus OMIM:610188 CEP290 80184 HP:0001252 Muscular hypotonia OMIM:610188 CEP290 80184 HP:0002335 Agenesis of cerebellar vermis OMIM:610188 CEP290 80184 HP:0002790 Neonatal breathing dysregulation OMIM:610188 CEP290 80184 HP:0002419 Molar tooth sign on MRI OMIM:610188 CEP290 80184 HP:0002404 Thickened superior cerebellar peduncle OMIM:601859 FASLG 356 HP:0002729 Follicular hyperplasia OMIM:601859 FASLG 356 HP:0000006 Autosomal dominant inheritance OMIM:601859 FASLG 356 HP:0001891 Iron deficiency anemia OMIM:601859 FASLG 356 HP:0004844 Coombs-positive hemolytic anemia OMIM:601859 FASLG 356 HP:0001973 Autoimmune thrombocytopenia OMIM:601859 FASLG 356 HP:0003453 Antineutrophil antibody positivity OMIM:601859 FASLG 356 HP:0002240 Hepatomegaly OMIM:601859 FASLG 356 HP:0001025 Urticaria OMIM:601859 FASLG 356 HP:0002972 Reduced delayed hypersensitivity OMIM:601859 FASLG 356 HP:0002633 Vasculitis OMIM:601859 FASLG 356 HP:0002923 Rheumatoid factor positive OMIM:601859 FASLG 356 HP:0003454 Platelet antibody positive OMIM:601859 FASLG 356 HP:0002731 Defective lymphocyte apoptosis OMIM:601859 FASLG 356 HP:0002730 Chronic noninfectious lymphadenopathy OMIM:601859 FASLG 356 HP:0002845 Increased number of peripheral CD3+ T cells OMIM:601859 FASLG 356 HP:0003262 Smooth muscle antibody positivity OMIM:601859 FASLG 356 HP:0003496 Increased IgM level OMIM:601859 FASLG 356 HP:0001744 Splenomegaly OMIM:601859 FASLG 356 HP:0002853 Increased proportion of HLA DR+ and CD57+ T cells OMIM:601859 FASLG 356 HP:0001890 Autoimmune hemolytic anemia OMIM:601859 FASLG 356 HP:0003613 Antiphospholipid antibody positivity OMIM:601859 FASLG 356 HP:0002851 Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors OMIM:601859 FASLG 356 HP:0003237 Increased IgG level OMIM:601859 FASLG 356 HP:0001880 Eosinophilia OMIM:601859 FASLG 356 HP:0001904 Autoimmune neutropenia OMIM:601859 FASLG 356 HP:0003493 Antinuclear antibody positivity OMIM:601859 FASLG 356 HP:0003261 Increased IgA level OMIM:601859 FAS 355 HP:0002729 Follicular hyperplasia OMIM:601859 FAS 355 HP:0000006 Autosomal dominant inheritance OMIM:601859 FAS 355 HP:0001891 Iron deficiency anemia OMIM:601859 FAS 355 HP:0004844 Coombs-positive hemolytic anemia OMIM:601859 FAS 355 HP:0001973 Autoimmune thrombocytopenia OMIM:601859 FAS 355 HP:0003453 Antineutrophil antibody positivity OMIM:601859 FAS 355 HP:0002240 Hepatomegaly OMIM:601859 FAS 355 HP:0001025 Urticaria OMIM:601859 FAS 355 HP:0002972 Reduced delayed hypersensitivity OMIM:601859 FAS 355 HP:0002633 Vasculitis OMIM:601859 FAS 355 HP:0002923 Rheumatoid factor positive OMIM:601859 FAS 355 HP:0003454 Platelet antibody positive OMIM:601859 FAS 355 HP:0002731 Defective lymphocyte apoptosis OMIM:601859 FAS 355 HP:0002730 Chronic noninfectious lymphadenopathy OMIM:601859 FAS 355 HP:0002845 Increased number of peripheral CD3+ T cells OMIM:601859 FAS 355 HP:0003262 Smooth muscle antibody positivity OMIM:601859 FAS 355 HP:0003496 Increased IgM level OMIM:601859 FAS 355 HP:0001744 Splenomegaly OMIM:601859 FAS 355 HP:0002853 Increased proportion of HLA DR+ and CD57+ T cells OMIM:601859 FAS 355 HP:0001890 Autoimmune hemolytic anemia OMIM:601859 FAS 355 HP:0003613 Antiphospholipid antibody positivity OMIM:601859 FAS 355 HP:0002851 Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors OMIM:601859 FAS 355 HP:0003237 Increased IgG level OMIM:601859 FAS 355 HP:0001880 Eosinophilia OMIM:601859 FAS 355 HP:0001904 Autoimmune neutropenia OMIM:601859 FAS 355 HP:0003493 Antinuclear antibody positivity OMIM:601859 FAS 355 HP:0003261 Increased IgA level OMIM:612359 SDHB 6390 HP:0003002 Breast carcinoma OMIM:612359 SDHB 6390 HP:0002895 Papillary thyroid carcinoma OMIM:612359 SDHB 6390 HP:0000006 Autosomal dominant inheritance OMIM:612359 SDHB 6390 HP:0012114 Endometrial carcinoma OMIM:612359 SDHB 6390 HP:0000131 Uterine leiomyoma OMIM:611134 CEP290 80184 HP:0002419 Molar tooth sign on MRI OMIM:611134 CEP290 80184 HP:0001408 Bile duct proliferation OMIM:611134 CEP290 80184 HP:0000175 Cleft palate OMIM:611134 CEP290 80184 HP:0002084 Encephalocele OMIM:611134 CEP290 80184 HP:0000252 Microcephaly OMIM:611134 CEP290 80184 HP:0001162 Postaxial hand polydactyly OMIM:611134 CEP290 80184 HP:0001511 Intrauterine growth retardation OMIM:611134 CEP290 80184 HP:0001631 Defect in the atrial septum OMIM:611134 CEP290 80184 HP:0002079 Hypoplasia of the corpus callosum OMIM:611134 CEP290 80184 HP:0000007 Autosomal recessive inheritance OMIM:611134 CEP290 80184 HP:0001629 Ventricular septal defect OMIM:611134 CEP290 80184 HP:0001305 Dandy-Walker malformation OMIM:611134 CEP290 80184 HP:0006487 Bowing of the long bones OMIM:611134 CEP290 80184 HP:0000238 Hydrocephalus OMIM:611134 CEP290 80184 HP:0002335 Agenesis of cerebellar vermis OMIM:611134 CEP290 80184 HP:0002323 Anencephaly OMIM:611134 CEP290 80184 HP:0000568 Microphthalmos OMIM:611134 CEP290 80184 HP:0000107 Renal cyst OMIM:608161 PRPH2 5961 HP:0012508 Metamorphopsia OMIM:608161 PRPH2 5961 HP:0000006 Autosomal dominant inheritance OMIM:608161 PRPH2 5961 HP:0007677 Vitelliform maculopathy OMIM:608161 PRPH2 5961 HP:0000613 Photophobia OMIM:608161 PRPH2 5961 HP:0000505 Visual impairment OMIM:608161 PRPH2 5961 HP:0007754 Macular dystrophy OMIM:123700 ELN 2006 HP:0001659 Aortic regurgitation OMIM:123700 ELN 2006 HP:0000271 Abnormality of the face OMIM:123700 ELN 2006 HP:0001653 Mitral regurgitation OMIM:123700 ELN 2006 HP:0001425 Heterogeneous OMIM:123700 ELN 2006 HP:0002097 Emphysema OMIM:123700 ELN 2006 HP:0001582 Redundant skin OMIM:123700 ELN 2006 HP:0000023 Inguinal hernia OMIM:123700 ELN 2006 HP:0007495 Prematurely aged appearance OMIM:123700 ELN 2006 HP:0000006 Autosomal dominant inheritance OMIM:616028 NOTCH1 4851 HP:0001642 Pulmonic stenosis OMIM:616028 NOTCH1 4851 HP:0002092 Pulmonary hypertension OMIM:616028 NOTCH1 4851 HP:0001057 Aplasia cutis congenita OMIM:616028 NOTCH1 4851 HP:0001159 Syndactyly OMIM:616028 NOTCH1 4851 HP:0002040 Esophageal varix OMIM:616028 NOTCH1 4851 HP:0001537 Umbilical hernia OMIM:616028 NOTCH1 4851 HP:0001744 Splenomegaly OMIM:616028 NOTCH1 4851 HP:0001667 Right ventricular hypertrophy OMIM:616028 NOTCH1 4851 HP:0001810 Dystrophic toenail OMIM:616028 NOTCH1 4851 HP:0000023 Inguinal hernia OMIM:616028 NOTCH1 4851 HP:0001971 Hypersplenism OMIM:616028 NOTCH1 4851 HP:0030242 Portal vein thrombosis OMIM:616028 NOTCH1 4851 HP:0001048 Cavernous hemangioma OMIM:616028 NOTCH1 4851 HP:0001156 Brachydactyly syndrome OMIM:616028 NOTCH1 4851 HP:0001250 Seizures OMIM:612520 HNF1A 6927 HP:0100651 Type I diabetes mellitus OMIM:603965 TRPC6 7225 HP:0000093 Proteinuria OMIM:603965 TRPC6 7225 HP:0000100 Nephrotic syndrome OMIM:603965 TRPC6 7225 HP:0000097 Focal segmental glomerulosclerosis OMIM:603965 TRPC6 7225 HP:0012622 Chronic kidney disease OMIM:300946 TSR2 90121 HP:0001972 Macrocytic anemia OMIM:300946 TSR2 90121 HP:0000494 Downslanted palpebral fissures OMIM:300946 TSR2 90121 HP:0008551 Microtia OMIM:300946 TSR2 90121 HP:0000347 Micrognathia OMIM:300946 TSR2 90121 HP:0011800 Midface retrusion OMIM:300946 TSR2 90121 HP:0000405 Conductive hearing impairment OMIM:603649 RIMS1 22999 HP:0012045 Retinal flecks OMIM:603649 RIMS1 22999 HP:0000505 Visual impairment OMIM:603649 RIMS1 22999 HP:0000551 Abnormality of color vision OMIM:603649 RIMS1 22999 HP:0000006 Autosomal dominant inheritance OMIM:603649 RIMS1 22999 HP:0011504 Bull's eye maculopathy OMIM:603649 RIMS1 22999 HP:0000548 Cone-rod dystrophy ORPHANET:3152 LRP4 4038 HP:0010628 Facial palsy ORPHANET:3152 LRP4 4038 HP:0000277 Abnormality of the mandible ORPHANET:3152 LRP4 4038 HP:0000098 Tall stature ORPHANET:3152 LRP4 4038 HP:0006101 Finger syndactyly ORPHANET:3152 LRP4 4038 HP:0000407 Sensorineural hearing impairment ORPHANET:3152 LRP4 4038 HP:0000366 Abnormality of the nose ORPHANET:3152 LRP4 4038 HP:0003103 Abnormal cortical bone morphology ORPHANET:3152 LRP4 4038 HP:0000508 Ptosis ORPHANET:3152 LRP4 4038 HP:0011001 Increased bone mineral density ORPHANET:3152 LRP4 4038 HP:0001167 Abnormality of finger ORPHANET:3152 LRP4 4038 HP:0001231 Abnormality of the fingernails ORPHANET:3152 LRP4 4038 HP:0004493 Craniofacial hyperostosis ORPHANET:3152 LRP4 4038 HP:0000648 Optic atrophy ORPHANET:3152 SOST 50964 HP:0010628 Facial palsy ORPHANET:3152 SOST 50964 HP:0000277 Abnormality of the mandible ORPHANET:3152 SOST 50964 HP:0000098 Tall stature ORPHANET:3152 SOST 50964 HP:0006101 Finger syndactyly ORPHANET:3152 SOST 50964 HP:0000407 Sensorineural hearing impairment ORPHANET:3152 SOST 50964 HP:0000366 Abnormality of the nose ORPHANET:3152 SOST 50964 HP:0003103 Abnormal cortical bone morphology ORPHANET:3152 SOST 50964 HP:0000508 Ptosis ORPHANET:3152 SOST 50964 HP:0011001 Increased bone mineral density ORPHANET:3152 SOST 50964 HP:0001167 Abnormality of finger ORPHANET:3152 SOST 50964 HP:0001231 Abnormality of the fingernails ORPHANET:3152 SOST 50964 HP:0004493 Craniofacial hyperostosis ORPHANET:3152 SOST 50964 HP:0000648 Optic atrophy OMIM:275630 ABHD5 51099 HP:0001596 Alopecia OMIM:275630 ABHD5 51099 HP:0000232 Everted lower lip vermilion OMIM:275630 ABHD5 51099 HP:0001324 Muscle weakness OMIM:275630 ABHD5 51099 HP:0008551 Microtia OMIM:275630 ABHD5 51099 HP:0000639 Nystagmus OMIM:275630 ABHD5 51099 HP:0001397 Hepatic steatosis OMIM:275630 ABHD5 51099 HP:0001249 Intellectual disability OMIM:275630 ABHD5 51099 HP:0002240 Hepatomegaly OMIM:275630 ABHD5 51099 HP:0000523 Subcapsular cataract OMIM:275630 ABHD5 51099 HP:0003198 Myopathy OMIM:275630 ABHD5 51099 HP:0000007 Autosomal recessive inheritance OMIM:275630 ABHD5 51099 HP:0001871 Abnormality of blood and blood-forming tissues OMIM:275630 ABHD5 51099 HP:0007479 Congenital nonbullous ichthyosiform erythroderma OMIM:275630 ABHD5 51099 HP:0001251 Ataxia OMIM:275630 ABHD5 51099 HP:0000407 Sensorineural hearing impairment OMIM:275630 ABHD5 51099 HP:0000486 Strabismus OMIM:275630 ABHD5 51099 HP:0000656 Ectropion OMIM:276901 USH2A 7399 HP:0008527 Congenital sensorineural hearing impairment OMIM:276901 USH2A 7399 HP:0000007 Autosomal recessive inheritance OMIM:276901 USH2A 7399 HP:0000510 Retinitis pigmentosa OMIM:300590 SMC1A 8243 HP:0001419 X-linked recessive inheritance OMIM:300590 SMC1A 8243 HP:0004322 Short stature OMIM:300590 SMC1A 8243 HP:0000319 Smooth philtrum OMIM:300590 SMC1A 8243 HP:0000664 Synophrys OMIM:300590 SMC1A 8243 HP:0002553 Highly arched eyebrow OMIM:300590 SMC1A 8243 HP:0000252 Microcephaly OMIM:300590 SMC1A 8243 HP:0001511 Intrauterine growth retardation OMIM:300590 SMC1A 8243 HP:0001249 Intellectual disability OMIM:240500 TNFRSF13B 23495 HP:0011108 Recurrent sinusitis OMIM:240500 TNFRSF13B 23495 HP:0002721 Immunodeficiency OMIM:240500 TNFRSF13B 23495 HP:0002664 Neoplasm OMIM:240500 TNFRSF13B 23495 HP:0002716 Lymphadenopathy OMIM:240500 TNFRSF13B 23495 HP:0002718 Recurrent bacterial infections OMIM:240500 TNFRSF13B 23495 HP:0005435 Impaired T cell function OMIM:240500 TNFRSF13B 23495 HP:0000006 Autosomal dominant inheritance OMIM:240500 TNFRSF13B 23495 HP:0000007 Autosomal recessive inheritance OMIM:240500 TNFRSF13B 23495 HP:0000509 Conjunctivitis OMIM:240500 TNFRSF13B 23495 HP:0002960 Autoimmunity OMIM:240500 TNFRSF13B 23495 HP:0002720 IgA deficiency OMIM:240500 TNFRSF13B 23495 HP:0002240 Hepatomegaly OMIM:240500 TNFRSF13B 23495 HP:0002665 Lymphoma OMIM:240500 TNFRSF13B 23495 HP:0002850 IgM deficiency OMIM:240500 TNFRSF13B 23495 HP:0002837 Recurrent bronchitis OMIM:240500 TNFRSF13B 23495 HP:0001287 Meningitis OMIM:240500 TNFRSF13B 23495 HP:0001744 Splenomegaly OMIM:240500 TNFRSF13B 23495 HP:0006532 Recurrent pneumonia OMIM:240500 TNFRSF13B 23495 HP:0002110 Bronchiectasis OMIM:240500 TNFRSF13B 23495 HP:0002014 Diarrhea OMIM:240500 TNFRSF13B 23495 HP:0004315 IgG deficiency OMIM:240500 TNFRSF13B 23495 HP:0000403 Recurrent otitis media OMIM:159000 MYOT 9499 HP:0003236 Elevated serum creatine phosphokinase OMIM:159000 MYOT 9499 HP:0008376 Nasal, dysarthic speech OMIM:159000 MYOT 9499 HP:0003458 EMG: myopathic abnormalities OMIM:159000 MYOT 9499 HP:0003677 Slow progression OMIM:159000 MYOT 9499 HP:0003581 Adult onset OMIM:159000 MYOT 9499 HP:0001265 Hyporeflexia OMIM:159000 MYOT 9499 HP:0003810 Late-onset distal muscle weakness OMIM:159000 MYOT 9499 HP:0003749 Pelvic girdle muscle weakness OMIM:159000 MYOT 9499 HP:0003555 Muscle fiber splitting OMIM:159000 MYOT 9499 HP:0003438 Absent Achilles reflex OMIM:159000 MYOT 9499 HP:0003547 Shoulder girdle muscle weakness OMIM:159000 MYOT 9499 HP:0003560 Muscular dystrophy OMIM:159000 MYOT 9499 HP:0003805 Rimmed vacuoles OMIM:159000 MYOT 9499 HP:0001771 Achilles tendon contracture OMIM:159000 MYOT 9499 HP:0001425 Heterogeneous OMIM:159000 MYOT 9499 HP:0000006 Autosomal dominant inheritance ORPHANET:79085 AKT2 208 HP:0100651 Type I diabetes mellitus ORPHANET:79085 AKT2 208 HP:0009124 Abnormality of adipose tissue ORPHANET:79085 AKT2 208 HP:0000855 Insulin resistance ORPHANET:79085 AKT2 208 HP:0000956 Acanthosis nigricans ORPHANET:79085 AKT2 208 HP:0000147 Polycystic ovaries ORPHANET:79085 AKT2 208 HP:0001397 Hepatic steatosis ORPHANET:79085 AKT2 208 HP:0000822 Hypertension ORPHANET:79085 AKT2 208 HP:0003119 Abnormality of lipid metabolism ORPHANET:79085 AKT2 208 HP:0001635 Congestive heart failure ORPHANET:79085 AKT2 208 HP:0001677 Coronary artery disease OMIM:218030 HSD11B2 3291 HP:0001508 Failure to thrive OMIM:218030 HSD11B2 3291 HP:0003828 Variable expressivity OMIM:218030 HSD11B2 3291 HP:0002900 Hypokalemia OMIM:218030 HSD11B2 3291 HP:0001095 Hypertensive retinopathy OMIM:218030 HSD11B2 3291 HP:0004322 Short stature OMIM:218030 HSD11B2 3291 HP:0003351 Decreased circulating renin level OMIM:218030 HSD11B2 3291 HP:0001518 Small for gestational age OMIM:218030 HSD11B2 3291 HP:0000007 Autosomal recessive inheritance OMIM:218030 HSD11B2 3291 HP:0004319 Hypoaldosteronism OMIM:218030 HSD11B2 3291 HP:0002924 Decreased circulating aldosterone level OMIM:218030 HSD11B2 3291 HP:0200114 Metabolic alkalosis OMIM:218030 HSD11B2 3291 HP:0000822 Hypertension OMIM:612379 SRD5A3 79644 HP:0001320 Cerebellar vermis hypoplasia OMIM:612379 SRD5A3 79644 HP:0000316 Hypertelorism OMIM:612379 SRD5A3 79644 HP:0000369 Low-set ears OMIM:612379 SRD5A3 79644 HP:0000639 Nystagmus OMIM:612379 SRD5A3 79644 HP:0001000 Abnormality of skin pigmentation OMIM:612379 SRD5A3 79644 HP:0001935 Microcytic anemia OMIM:612379 SRD5A3 79644 HP:0000589 Coloboma OMIM:612379 SRD5A3 79644 HP:0001270 Motor delay OMIM:612379 SRD5A3 79644 HP:0000007 Autosomal recessive inheritance OMIM:612379 SRD5A3 79644 HP:0002910 Elevated hepatic transaminases OMIM:612379 SRD5A3 79644 HP:0002126 Polymicrogyria OMIM:612379 SRD5A3 79644 HP:0000964 Eczema OMIM:612379 SRD5A3 79644 HP:0000248 Brachycephaly OMIM:612379 SRD5A3 79644 HP:0000572 Visual loss OMIM:612379 SRD5A3 79644 HP:0003642 Type I transferrin isoform profile OMIM:612379 SRD5A3 79644 HP:0003593 Infantile onset OMIM:612379 SRD5A3 79644 HP:0001249 Intellectual disability OMIM:612379 SRD5A3 79644 HP:0000998 Hypertrichosis OMIM:612379 SRD5A3 79644 HP:0005280 Depressed nasal bridge OMIM:612379 SRD5A3 79644 HP:0001976 Reduced antithrombin III activity OMIM:612379 SRD5A3 79644 HP:0001252 Muscular hypotonia OMIM:612379 SRD5A3 79644 HP:0000973 Cutis laxa OMIM:612379 SRD5A3 79644 HP:0000962 Hyperkeratosis OMIM:613684 EP300 2033 HP:0000527 Long eyelashes OMIM:613684 EP300 2033 HP:0003577 Congenital onset OMIM:613684 EP300 2033 HP:0000006 Autosomal dominant inheritance OMIM:613684 EP300 2033 HP:0000189 Narrow palate OMIM:613684 EP300 2033 HP:0000278 Retrognathia OMIM:613684 EP300 2033 HP:0000689 Dental malocclusion OMIM:613684 EP300 2033 HP:0011304 Broad thumb OMIM:613684 EP300 2033 HP:0000252 Microcephaly OMIM:613684 EP300 2033 HP:0000750 Delayed speech and language development OMIM:613684 EP300 2033 HP:0010055 Broad hallux OMIM:613684 EP300 2033 HP:0000444 Convex nasal ridge OMIM:613684 EP300 2033 HP:0011094 Overbite OMIM:613684 EP300 2033 HP:0001263 Global developmental delay OMIM:613684 EP300 2033 HP:0001256 Intellectual disability, mild OMIM:613684 EP300 2033 HP:0000347 Micrognathia OMIM:613684 EP300 2033 HP:0000218 High palate OMIM:613684 EP300 2033 HP:0000448 Prominent nose OMIM:613684 EP300 2033 HP:0000670 Carious teeth OMIM:300166 BCOR 54880 HP:0000501 Glaucoma OMIM:300166 BCOR 54880 HP:0000358 Posteriorly rotated ears OMIM:300166 BCOR 54880 HP:0008872 Feeding difficulties in infancy OMIM:300166 BCOR 54880 HP:0000568 Microphthalmos OMIM:300166 BCOR 54880 HP:0004691 2-3 toe syndactyly OMIM:300166 BCOR 54880 HP:0002553 Highly arched eyebrow OMIM:300166 BCOR 54880 HP:0001765 Hammertoe OMIM:300166 BCOR 54880 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:300166 BCOR 54880 HP:0001629 Ventricular septal defect OMIM:300166 BCOR 54880 HP:0100543 Cognitive impairment OMIM:300166 BCOR 54880 HP:0006315 Single median maxillary incisor OMIM:300166 BCOR 54880 HP:0000276 Long face OMIM:300166 BCOR 54880 HP:0001256 Intellectual disability, mild OMIM:300166 BCOR 54880 HP:0001270 Motor delay OMIM:300166 BCOR 54880 HP:0002974 Radioulnar synostosis OMIM:300166 BCOR 54880 HP:0000518 Cataract OMIM:300166 BCOR 54880 HP:0010722 Asymmetry of the ears OMIM:300166 BCOR 54880 HP:0001634 Mitral valve prolapse OMIM:300166 BCOR 54880 HP:0001719 Double outlet right ventricle OMIM:300166 BCOR 54880 HP:0000821 Hypothyroidism OMIM:300166 BCOR 54880 HP:0004209 Clinodactyly of the 5th finger OMIM:300166 BCOR 54880 HP:0000343 Long philtrum OMIM:300166 BCOR 54880 HP:0000528 Anophthalmia OMIM:300166 BCOR 54880 HP:0000541 Retinal detachment OMIM:300166 BCOR 54880 HP:0000667 Phthisis bulbi OMIM:300166 BCOR 54880 HP:0000689 Dental malocclusion OMIM:300166 BCOR 54880 HP:0009804 Reduced number of teeth OMIM:300166 BCOR 54880 HP:0000426 Prominent nasal bridge OMIM:300166 BCOR 54880 HP:0002967 Cubitus valgus OMIM:300166 BCOR 54880 HP:0000047 Hypospadias OMIM:300166 BCOR 54880 HP:0002650 Scoliosis OMIM:300166 BCOR 54880 HP:0001671 Abnormality of the cardiac septa OMIM:300166 BCOR 54880 HP:0000846 Adrenal insufficiency OMIM:300166 BCOR 54880 HP:0001633 Abnormality of the mitral valve OMIM:300166 BCOR 54880 HP:0000193 Bifid uvula OMIM:300166 BCOR 54880 HP:0000519 Congenital cataract OMIM:300166 BCOR 54880 HP:0004322 Short stature OMIM:300166 BCOR 54880 HP:0000275 Narrow face OMIM:300166 BCOR 54880 HP:0002079 Hypoplasia of the corpus callosum OMIM:300166 BCOR 54880 HP:0000455 Broad nasal tip OMIM:300166 BCOR 54880 HP:0001423 X-linked dominant inheritance OMIM:300166 BCOR 54880 HP:0002857 Genu valgum OMIM:300166 BCOR 54880 HP:0001762 Talipes equinovarus OMIM:300166 BCOR 54880 HP:0001642 Pulmonic stenosis OMIM:300166 BCOR 54880 HP:0001643 Patent ductus arteriosus OMIM:300166 BCOR 54880 HP:0000577 Exotropia OMIM:300166 BCOR 54880 HP:0001188 Hand clenching OMIM:300166 BCOR 54880 HP:0000407 Sensorineural hearing impairment OMIM:300166 BCOR 54880 HP:0000176 Submucous cleft hard palate OMIM:300166 BCOR 54880 HP:0004325 Decreased body weight OMIM:300166 BCOR 54880 HP:0000252 Microcephaly OMIM:300166 BCOR 54880 HP:0000684 Delayed eruption of teeth OMIM:300166 BCOR 54880 HP:0002566 Intestinal malrotation OMIM:300166 BCOR 54880 HP:0006335 Persistence of primary teeth OMIM:300166 BCOR 54880 HP:0011069 Increased number of teeth OMIM:300166 BCOR 54880 HP:0000572 Visual loss OMIM:300166 BCOR 54880 HP:0000482 Microcornea OMIM:300166 BCOR 54880 HP:0001083 Ectopia lentis OMIM:300166 BCOR 54880 HP:0000175 Cleft palate OMIM:300166 BCOR 54880 HP:0000677 Oligodontia OMIM:300166 BCOR 54880 HP:0001770 Toe syndactyly OMIM:300166 BCOR 54880 HP:0001641 Abnormality of the pulmonary valve OMIM:300166 BCOR 54880 HP:0000508 Ptosis OMIM:300166 BCOR 54880 HP:0001631 Defect in the atrial septum OMIM:300166 BCOR 54880 HP:0004122 Midline defect of the nose OMIM:300166 BCOR 54880 HP:0000028 Cryptorchidism OMIM:300166 BCOR 54880 HP:0002313 Spastic paraparesis OMIM:300166 BCOR 54880 HP:0001371 Flexion contracture OMIM:300166 BCOR 54880 HP:0007968 Persistent hyperplastic primary vitreous OMIM:300166 BCOR 54880 HP:0000574 Thick eyebrow OMIM:300166 BCOR 54880 HP:0000612 Iris coloboma OMIM:300166 BCOR 54880 HP:0011090 Fused teeth OMIM:300166 BCOR 54880 HP:0001650 Aortic valve stenosis OMIM:300166 BCOR 54880 HP:0001250 Seizures OMIM:300166 BCOR 54880 HP:0007733 Laterally curved eyebrow OMIM:300166 BCOR 54880 HP:0000581 Blepharophimosis OMIM:300166 BCOR 54880 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:300166 BCOR 54880 HP:0001651 Dextrocardia OMIM:300166 BCOR 54880 HP:0001153 Septate vagina OMIM:300166 BCOR 54880 HP:0001537 Umbilical hernia OMIM:300166 BCOR 54880 HP:0001836 Camptodactyly of toe OMIM:300166 BCOR 54880 HP:0000456 Bifid nasal tip OMIM:610600 CYP11B2 1585 HP:0002924 Decreased circulating aldosterone level OMIM:610600 CYP11B2 1585 HP:0001510 Growth delay OMIM:610600 CYP11B2 1585 HP:0004319 Hypoaldosteronism OMIM:610600 CYP11B2 1585 HP:0000848 Increased circulating renin level OMIM:610600 CYP11B2 1585 HP:0000127 Renal salt wasting OMIM:610600 CYP11B2 1585 HP:0003623 Neonatal onset OMIM:610600 CYP11B2 1585 HP:0001944 Dehydration OMIM:610600 CYP11B2 1585 HP:0002902 Hyponatremia OMIM:610600 CYP11B2 1585 HP:0001508 Failure to thrive OMIM:610600 CYP11B2 1585 HP:0000007 Autosomal recessive inheritance OMIM:610600 CYP11B2 1585 HP:0002153 Hyperkalemia OMIM:610600 CYP11B2 1585 HP:0001278 Orthostatic hypotension OMIM:613090 CLCNKA 1187 HP:0001249 Intellectual disability OMIM:613090 CLCNKA 1187 HP:0000969 Edema OMIM:613090 CLCNKA 1187 HP:0003113 Hypochloremia OMIM:613090 CLCNKA 1187 HP:0001270 Motor delay OMIM:613090 CLCNKA 1187 HP:0002914 Hyperchloridura OMIM:613090 CLCNKA 1187 HP:0000083 Renal insufficiency OMIM:613090 CLCNKA 1187 HP:0004909 Hypokalemic hypochloremic metabolic alkalosis OMIM:613090 CLCNKA 1187 HP:0000127 Renal salt wasting OMIM:613090 CLCNKA 1187 HP:0001622 Premature birth OMIM:613090 CLCNKA 1187 HP:0001252 Muscular hypotonia OMIM:613090 CLCNKA 1187 HP:0001563 Fetal polyuria OMIM:613090 CLCNKA 1187 HP:0000103 Polyuria OMIM:613090 CLCNKA 1187 HP:0000859 Hyperaldosteronism OMIM:613090 CLCNKA 1187 HP:0003081 Increased urinary potassium OMIM:613090 CLCNKA 1187 HP:0012605 Hypernatriuria OMIM:613090 CLCNKA 1187 HP:0012213 Decreased glomerular filtration rate OMIM:613090 CLCNKA 1187 HP:0001561 Polyhydramnios OMIM:613090 CLCNKA 1187 HP:0001425 Heterogeneous OMIM:613090 CLCNKA 1187 HP:0001265 Hyporeflexia OMIM:613090 CLCNKA 1187 HP:0001508 Failure to thrive OMIM:613090 CLCNKA 1187 HP:0002900 Hypokalemia OMIM:613090 CLCNKA 1187 HP:0003577 Congenital onset OMIM:613090 CLCNKA 1187 HP:0000407 Sensorineural hearing impairment OMIM:613090 CLCNKA 1187 HP:0002902 Hyponatremia OMIM:613090 CLCNKB 1188 HP:0001249 Intellectual disability OMIM:613090 CLCNKB 1188 HP:0000969 Edema OMIM:613090 CLCNKB 1188 HP:0003113 Hypochloremia OMIM:613090 CLCNKB 1188 HP:0001270 Motor delay OMIM:613090 CLCNKB 1188 HP:0002914 Hyperchloridura OMIM:613090 CLCNKB 1188 HP:0000083 Renal insufficiency OMIM:613090 CLCNKB 1188 HP:0004909 Hypokalemic hypochloremic metabolic alkalosis OMIM:613090 CLCNKB 1188 HP:0000127 Renal salt wasting OMIM:613090 CLCNKB 1188 HP:0001622 Premature birth OMIM:613090 CLCNKB 1188 HP:0001252 Muscular hypotonia OMIM:613090 CLCNKB 1188 HP:0001563 Fetal polyuria OMIM:613090 CLCNKB 1188 HP:0000103 Polyuria OMIM:613090 CLCNKB 1188 HP:0000859 Hyperaldosteronism OMIM:613090 CLCNKB 1188 HP:0003081 Increased urinary potassium OMIM:613090 CLCNKB 1188 HP:0012605 Hypernatriuria OMIM:613090 CLCNKB 1188 HP:0012213 Decreased glomerular filtration rate OMIM:613090 CLCNKB 1188 HP:0001561 Polyhydramnios OMIM:613090 CLCNKB 1188 HP:0001425 Heterogeneous OMIM:613090 CLCNKB 1188 HP:0001265 Hyporeflexia OMIM:613090 CLCNKB 1188 HP:0001508 Failure to thrive OMIM:613090 CLCNKB 1188 HP:0002900 Hypokalemia OMIM:613090 CLCNKB 1188 HP:0003577 Congenital onset OMIM:613090 CLCNKB 1188 HP:0000407 Sensorineural hearing impairment OMIM:613090 CLCNKB 1188 HP:0002902 Hyponatremia OMIM:616030 FEZF1 389549 HP:0000054 Micropenis OMIM:616030 FEZF1 389549 HP:0000135 Hypogonadism OMIM:616030 FEZF1 389549 HP:0000786 Primary amenorrhea OMIM:616030 FEZF1 389549 HP:0008734 Decreased testicular size OMIM:616030 FEZF1 389549 HP:0000458 Anosmia OMIM:616030 FEZF1 389549 HP:0000028 Cryptorchidism OMIM:615272 ERCC4 2072 HP:0004322 Short stature OMIM:615272 ERCC4 2072 HP:0003812 Phenotypic variability OMIM:615272 ERCC4 2072 HP:0002032 Esophageal atresia OMIM:615272 ERCC4 2072 HP:0005528 Bone marrow hypocellularity OMIM:615272 ERCC4 2072 HP:0009777 Absent thumb OMIM:615272 ERCC4 2072 HP:0003593 Infantile onset OMIM:615272 ERCC4 2072 HP:0005912 Biliary atresia OMIM:615272 ERCC4 2072 HP:0000007 Autosomal recessive inheritance OMIM:615272 ERCC4 2072 HP:0000369 Low-set ears OMIM:615272 ERCC4 2072 HP:0000252 Microcephaly OMIM:613177 LTBP4 8425 HP:0002780 Bronchomalacia OMIM:613177 LTBP4 8425 HP:0002779 Tracheomalacia OMIM:613177 LTBP4 8425 HP:0000007 Autosomal recessive inheritance OMIM:613177 LTBP4 8425 HP:0000023 Inguinal hernia OMIM:613177 LTBP4 8425 HP:0001852 Sandal gap OMIM:613177 LTBP4 8425 HP:0002021 Pyloric stenosis OMIM:613177 LTBP4 8425 HP:0000340 Sloping forehead OMIM:613177 LTBP4 8425 HP:0000431 Wide nasal bridge OMIM:613177 LTBP4 8425 HP:0002097 Emphysema OMIM:613177 LTBP4 8425 HP:0002089 Pulmonary hypoplasia OMIM:613177 LTBP4 8425 HP:0001388 Joint laxity OMIM:613177 LTBP4 8425 HP:0000347 Micrognathia OMIM:613177 LTBP4 8425 HP:0001601 Laryngomalacia OMIM:613177 LTBP4 8425 HP:0000015 Bladder diverticulum OMIM:613177 LTBP4 8425 HP:0000272 Malar flattening OMIM:613177 LTBP4 8425 HP:0001655 Patent foramen ovale OMIM:613177 LTBP4 8425 HP:0002035 Rectal prolapse OMIM:613177 LTBP4 8425 HP:0001537 Umbilical hernia OMIM:613177 LTBP4 8425 HP:0000343 Long philtrum OMIM:613177 LTBP4 8425 HP:0000126 Hydronephrosis OMIM:613177 LTBP4 8425 HP:0000316 Hypertelorism OMIM:613177 LTBP4 8425 HP:0000278 Retrognathia OMIM:613177 LTBP4 8425 HP:0002020 Gastroesophageal reflux OMIM:613177 LTBP4 8425 HP:0000973 Cutis laxa OMIM:613177 LTBP4 8425 HP:0004415 Pulmonary artery stenosis OMIM:609812 CEL 1056 HP:0012092 Abnormality of exocrine pancreas physiology OMIM:609812 CEL 1056 HP:0000006 Autosomal dominant inheritance OMIM:609812 CEL 1056 HP:0004904 Maturity-onset diabetes of the young OMIM:300271 RAB39B 116442 HP:0001250 Seizures OMIM:300271 RAB39B 116442 HP:0000256 Macrocephaly OMIM:300271 RAB39B 116442 HP:0001419 X-linked recessive inheritance OMIM:300271 RAB39B 116442 HP:0001249 Intellectual disability OMIM:300271 RAB39B 116442 HP:0000752 Hyperactivity OMIM:300271 RAB39B 116442 HP:0000733 Stereotypic behavior OMIM:300271 RAB39B 116442 HP:0000268 Dolichocephaly OMIM:300271 RAB39B 116442 HP:0001263 Global developmental delay OMIM:300271 RAB39B 116442 HP:0000276 Long face OMIM:135150 FLCN 201163 HP:0001012 Multiple lipomas OMIM:135150 FLCN 201163 HP:0100684 Salivary gland neoplasm OMIM:135150 FLCN 201163 HP:0000951 Abnormality of the skin OMIM:135150 FLCN 201163 HP:0001595 Abnormality of the hair OMIM:135150 FLCN 201163 HP:0002108 Spontaneous pneumothorax OMIM:135150 FLCN 201163 HP:0001438 Abnormality of the abdomen OMIM:135150 FLCN 201163 HP:0002097 Emphysema OMIM:135150 FLCN 201163 HP:0100031 Neoplasm of the thyroid gland OMIM:135150 FLCN 201163 HP:0007703 Abnormal retinal pigmentation OMIM:135150 FLCN 201163 HP:0007378 Neoplasm of the gastrointestinal tract OMIM:135150 FLCN 201163 HP:0000006 Autosomal dominant inheritance OMIM:135150 FLCN 201163 HP:0009726 Renal neoplasm OMIM:135150 FLCN 201163 HP:0000107 Renal cyst OMIM:135150 FLCN 201163 HP:0005584 Renal cell carcinoma OMIM:135150 FLCN 201163 HP:0100733 Neoplasm of the parathyroid gland OMIM:607196 SLC25A19 60386 HP:0004349 Reduced bone mineral density OMIM:607196 SLC25A19 60386 HP:0000737 Irritability OMIM:607196 SLC25A19 60386 HP:0002240 Hepatomegaly OMIM:607196 SLC25A19 60386 HP:0001276 Hypertonia OMIM:607196 SLC25A19 60386 HP:0002119 Ventriculomegaly OMIM:607196 SLC25A19 60386 HP:0001338 Partial agenesis of the corpus callosum OMIM:607196 SLC25A19 60386 HP:0002269 Abnormality of neuronal migration OMIM:607196 SLC25A19 60386 HP:0000347 Micrognathia OMIM:607196 SLC25A19 60386 HP:0000648 Optic atrophy OMIM:607196 SLC25A19 60386 HP:0003577 Congenital onset OMIM:607196 SLC25A19 60386 HP:0001321 Cerebellar hypoplasia OMIM:607196 SLC25A19 60386 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:607196 SLC25A19 60386 HP:0000007 Autosomal recessive inheritance OMIM:607196 SLC25A19 60386 HP:0000252 Microcephaly OMIM:607196 SLC25A19 60386 HP:0003128 Lactic acidosis OMIM:607196 SLC25A19 60386 HP:0002414 Spina bifida OMIM:607196 SLC25A19 60386 HP:0100543 Cognitive impairment OMIM:607196 SLC25A19 60386 HP:0008936 Muscular hypotonia of the trunk OMIM:607196 SLC25A19 60386 HP:0000340 Sloping forehead OMIM:607196 SLC25A19 60386 HP:0100736 Abnormality of the soft palate OMIM:607196 SLC25A19 60386 HP:0001557 Prenatal movement abnormality OMIM:607196 SLC25A19 60386 HP:0001250 Seizures OMIM:607196 SLC25A19 60386 HP:0004331 Decreased skull ossification OMIM:607196 SLC25A19 60386 HP:0001371 Flexion contracture OMIM:607196 SLC25A19 60386 HP:0002509 Limb hypertonia OMIM:607196 SLC25A19 60386 HP:0001376 Limitation of joint mobility OMIM:607196 SLC25A19 60386 HP:0000708 Behavioral abnormality OMIM:607196 SLC25A19 60386 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:607196 SLC25A19 60386 HP:0000253 Progressive microcephaly OMIM:607196 SLC25A19 60386 HP:0001252 Muscular hypotonia OMIM:613810 PDE6A 5145 HP:0000662 Night blindness OMIM:613810 PDE6A 5145 HP:0007994 Peripheral visual field loss OMIM:613810 PDE6A 5145 HP:0000580 Pigmentary retinopathy OMIM:613810 PDE6A 5145 HP:0000510 Retinitis pigmentosa OMIM:613810 PDE6A 5145 HP:0000505 Visual impairment OMIM:613810 PDE6A 5145 HP:0000543 Optic disc pallor OMIM:613810 PDE6A 5145 HP:0000512 Abnormal electroretinogram OMIM:613810 PDE6A 5145 HP:0007843 Attenuation of retinal blood vessels OMIM:613810 PDE6A 5145 HP:0000007 Autosomal recessive inheritance OMIM:609286 C10ORF2 56652 HP:0001730 Progressive hearing impairment OMIM:609286 C10ORF2 56652 HP:0000518 Cataract OMIM:609286 C10ORF2 56652 HP:0002015 Dysphagia OMIM:609286 C10ORF2 56652 HP:0003701 Proximal muscle weakness OMIM:609286 C10ORF2 56652 HP:0001250 Seizures OMIM:609286 C10ORF2 56652 HP:0000820 Abnormality of the thyroid gland OMIM:609286 C10ORF2 56652 HP:0003689 Multiple mitochondrial DNA deletions OMIM:609286 C10ORF2 56652 HP:0002059 Cerebral atrophy OMIM:609286 C10ORF2 56652 HP:0001284 Areflexia OMIM:609286 C10ORF2 56652 HP:0003690 Limb muscle weakness OMIM:609286 C10ORF2 56652 HP:0000135 Hypogonadism OMIM:609286 C10ORF2 56652 HP:0000006 Autosomal dominant inheritance OMIM:609286 C10ORF2 56652 HP:0001288 Gait disturbance OMIM:609286 C10ORF2 56652 HP:0001662 Bradycardia OMIM:609286 C10ORF2 56652 HP:0003390 Sensory axonal neuropathy OMIM:609286 C10ORF2 56652 HP:0000508 Ptosis OMIM:609286 C10ORF2 56652 HP:0003581 Adult onset OMIM:609286 C10ORF2 56652 HP:0003548 Subsarcolemmal accumulations of abnormally shaped mitochondria OMIM:609286 C10ORF2 56652 HP:0003688 Decreased activity of cytochrome C oxidase in muscle tissue OMIM:609286 C10ORF2 56652 HP:0001260 Dysarthria OMIM:609286 C10ORF2 56652 HP:0002151 Increased serum lactate OMIM:609286 C10ORF2 56652 HP:0003326 Myalgia OMIM:609286 C10ORF2 56652 HP:0000716 Depression OMIM:609286 C10ORF2 56652 HP:0003676 Progressive disorder OMIM:609286 C10ORF2 56652 HP:0001263 Global developmental delay OMIM:609286 C10ORF2 56652 HP:0010871 Sensory ataxia OMIM:609286 C10ORF2 56652 HP:0000819 Diabetes mellitus OMIM:609286 C10ORF2 56652 HP:0001300 Parkinsonism OMIM:609286 C10ORF2 56652 HP:0012378 Fatigue OMIM:609286 C10ORF2 56652 HP:0008209 Premature ovarian failure OMIM:609286 C10ORF2 56652 HP:0001265 Hyporeflexia OMIM:609286 C10ORF2 56652 HP:0001618 Dysphonia OMIM:609286 C10ORF2 56652 HP:0003458 EMG: myopathic abnormalities OMIM:609286 C10ORF2 56652 HP:0003200 Ragged-red muscle fibers OMIM:609286 C10ORF2 56652 HP:0000590 Progressive external ophthalmoplegia OMIM:609286 C10ORF2 56652 HP:0000726 Dementia OMIM:609286 C10ORF2 56652 HP:0001638 Cardiomyopathy OMIM:609286 C10ORF2 56652 HP:0003546 Exercise intolerance OMIM:609286 C10ORF2 56652 HP:0003323 Progressive muscle weakness OMIM:613571 POR 5447 HP:0003154 Increased circulating ACTH level OMIM:613571 POR 5447 HP:0008258 Congenital adrenal hyperplasia OMIM:613571 POR 5447 HP:0000062 Ambiguous genitalia OMIM:613571 POR 5447 HP:0000007 Autosomal recessive inheritance OMIM:615155 COL27A1 85301 HP:0000316 Hypertelorism OMIM:615155 COL27A1 85301 HP:0003083 Dislocated radial head OMIM:615155 COL27A1 85301 HP:0000431 Wide nasal bridge OMIM:615155 COL27A1 85301 HP:0004322 Short stature OMIM:615155 COL27A1 85301 HP:0011220 Prominent forehead OMIM:615155 COL27A1 85301 HP:0002650 Scoliosis OMIM:615155 COL27A1 85301 HP:0000007 Autosomal recessive inheritance OMIM:300912 KIAA2022 340533 HP:0003577 Congenital onset OMIM:300912 KIAA2022 340533 HP:0001250 Seizures OMIM:300912 KIAA2022 340533 HP:0000049 Shawl scrotum OMIM:300912 KIAA2022 340533 HP:0010804 Tented upper lip vermilion OMIM:300912 KIAA2022 340533 HP:0008936 Muscular hypotonia of the trunk OMIM:300912 KIAA2022 340533 HP:0000565 Esotropia OMIM:300912 KIAA2022 340533 HP:0000322 Short philtrum OMIM:300912 KIAA2022 340533 HP:0002167 Neurological speech impairment OMIM:300912 KIAA2022 340533 HP:0002119 Ventriculomegaly OMIM:300912 KIAA2022 340533 HP:0000708 Behavioral abnormality OMIM:300912 KIAA2022 340533 HP:0000486 Strabismus OMIM:300912 KIAA2022 340533 HP:0001252 Muscular hypotonia OMIM:300912 KIAA2022 340533 HP:0000252 Microcephaly OMIM:300912 KIAA2022 340533 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:300912 KIAA2022 340533 HP:0001249 Intellectual disability OMIM:300912 KIAA2022 340533 HP:0100543 Cognitive impairment OMIM:300912 KIAA2022 340533 HP:0004295 Abnormality of the gastric mucosa OMIM:300912 KIAA2022 340533 HP:0002521 Hypsarrhythmia OMIM:300912 KIAA2022 340533 HP:0002120 Cerebral cortical atrophy OMIM:300912 KIAA2022 340533 HP:0001419 X-linked recessive inheritance OMIM:300912 KIAA2022 340533 HP:0002020 Gastroesophageal reflux OMIM:300912 KIAA2022 340533 HP:0001257 Spasticity OMIM:300912 KIAA2022 340533 HP:0001508 Failure to thrive OMIM:300912 KIAA2022 340533 HP:0001263 Global developmental delay OMIM:300912 KIAA2022 340533 HP:0003196 Short nose OMIM:300912 KIAA2022 340533 HP:0000311 Round face OMIM:300912 KIAA2022 340533 HP:0000817 Poor eye contact OMIM:300912 KIAA2022 340533 HP:0001510 Growth delay OMIM:300912 KIAA2022 340533 HP:0000752 Hyperactivity OMIM:613370 INS 3630 HP:0000006 Autosomal dominant inheritance OMIM:613370 INS 3630 HP:0004904 Maturity-onset diabetes of the young OMIM:603285 PDCD10 11235 HP:0001342 Cerebral hemorrhage OMIM:603285 PDCD10 11235 HP:0003470 Paralysis OMIM:603285 PDCD10 11235 HP:0002315 Headache OMIM:603285 PDCD10 11235 HP:0002060 Abnormality of the cerebrum OMIM:603285 PDCD10 11235 HP:0001250 Seizures ORPHANET:567 HIRA 7290 HP:0100627 Displacement of the external urethral meatus ORPHANET:567 HIRA 7290 HP:0008678 Renal hypoplasia/aplasia ORPHANET:567 HIRA 7290 HP:0001660 Truncus arteriosus ORPHANET:567 HIRA 7290 HP:0001702 Abnormality of the tricuspid valve ORPHANET:567 HIRA 7290 HP:0001629 Ventricular septal defect ORPHANET:567 HIRA 7290 HP:0001631 Defect in the atrial septum ORPHANET:567 HIRA 7290 HP:0001744 Splenomegaly ORPHANET:567 HIRA 7290 HP:0000836 Hyperthyroidism ORPHANET:567 HIRA 7290 HP:0000648 Optic atrophy ORPHANET:567 HIRA 7290 HP:0100589 Urogenital fistula ORPHANET:567 HIRA 7290 HP:0001679 Abnormality of the aorta ORPHANET:567 HIRA 7290 HP:0001250 Seizures ORPHANET:567 HIRA 7290 HP:0002414 Spina bifida ORPHANET:567 HIRA 7290 HP:0005105 Abnormal nasal morphology ORPHANET:567 HIRA 7290 HP:0000202 Oral cleft ORPHANET:567 HIRA 7290 HP:0000347 Micrognathia ORPHANET:567 HIRA 7290 HP:0005293 Venous insufficiency ORPHANET:567 HIRA 7290 HP:0000276 Long face ORPHANET:567 HIRA 7290 HP:0100735 Hypertensive crisis ORPHANET:567 HIRA 7290 HP:0100543 Cognitive impairment ORPHANET:567 HIRA 7290 HP:0001873 Thrombocytopenia ORPHANET:567 HIRA 7290 HP:0010515 Aplasia/Hypoplasia of the thymus ORPHANET:567 HIRA 7290 HP:0002607 Bowel incontinence ORPHANET:567 HIRA 7290 HP:0000765 Abnormality of the thorax ORPHANET:567 HIRA 7290 HP:0000582 Upslanted palpebral fissure ORPHANET:567 HIRA 7290 HP:0001051 Seborrheic dermatitis ORPHANET:567 HIRA 7290 HP:0008872 Feeding difficulties in infancy ORPHANET:567 HIRA 7290 HP:0002167 Neurological speech impairment ORPHANET:567 HIRA 7290 HP:0000486 Strabismus ORPHANET:567 HIRA 7290 HP:0002239 Gastrointestinal hemorrhage ORPHANET:567 HIRA 7290 HP:0001608 Abnormality of the voice ORPHANET:567 HIRA 7290 HP:0000508 Ptosis ORPHANET:567 HIRA 7290 HP:0000286 Epicanthus ORPHANET:567 HIRA 7290 HP:0100750 Atelectasis ORPHANET:567 HIRA 7290 HP:0001080 Biliary tract abnormality ORPHANET:567 HIRA 7290 HP:0000365 Hearing impairment ORPHANET:567 HIRA 7290 HP:0000600 Abnormality of the pharynx ORPHANET:567 HIRA 7290 HP:0001161 Hand polydactyly ORPHANET:567 HIRA 7290 HP:0000003 Multicystic kidney dysplasia ORPHANET:567 HIRA 7290 HP:0000717 Autism ORPHANET:567 HIRA 7290 HP:0002099 Asthma ORPHANET:567 HIRA 7290 HP:0000388 Otitis media ORPHANET:567 HIRA 7290 HP:0002999 Patellar dislocation ORPHANET:567 HIRA 7290 HP:0000518 Cataract ORPHANET:567 HIRA 7290 HP:0000821 Hypothyroidism ORPHANET:567 HIRA 7290 HP:0009906 Aplasia/Hypoplasia of the earlobes ORPHANET:567 HIRA 7290 HP:0002251 Aganglionic megacolon ORPHANET:567 HIRA 7290 HP:0001252 Muscular hypotonia ORPHANET:567 HIRA 7290 HP:0001641 Abnormality of the pulmonary valve ORPHANET:567 HIRA 7290 HP:0000426 Prominent nasal bridge ORPHANET:567 HIRA 7290 HP:0000682 Abnormality of dental enamel ORPHANET:567 HIRA 7290 HP:0000829 Hypoparathyroidism ORPHANET:567 HIRA 7290 HP:0001511 Intrauterine growth retardation ORPHANET:567 HIRA 7290 HP:0002019 Constipation ORPHANET:567 HIRA 7290 HP:0000396 Overfolded helix ORPHANET:567 HIRA 7290 HP:0000076 Vesicoureteral reflux ORPHANET:567 HIRA 7290 HP:0001061 Acne ORPHANET:567 HIRA 7290 HP:0001643 Patent ductus arteriosus ORPHANET:567 HIRA 7290 HP:0000252 Microcephaly ORPHANET:567 HIRA 7290 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:567 HIRA 7290 HP:0000494 Downslanted palpebral fissures ORPHANET:567 HIRA 7290 HP:0010669 Cheekbone underdevelopment ORPHANET:567 HIRA 7290 HP:0001646 Abnormality of the aortic valve ORPHANET:567 HIRA 7290 HP:0002960 Autoimmunity ORPHANET:567 HIRA 7290 HP:0000506 Telecanthus ORPHANET:567 HIRA 7290 HP:0000470 Short neck ORPHANET:567 HIRA 7290 HP:0000113 Polycystic kidney dysplasia ORPHANET:567 HIRA 7290 HP:0001363 Craniosynostosis ORPHANET:567 HIRA 7290 HP:0001537 Umbilical hernia ORPHANET:567 HIRA 7290 HP:0006510 Chronic obstructive pulmonary disease ORPHANET:567 HIRA 7290 HP:0000008 Abnormality of female internal genitalia ORPHANET:567 HIRA 7290 HP:0001636 Tetralogy of Fallot ORPHANET:567 HIRA 7290 HP:0000028 Cryptorchidism ORPHANET:567 HIRA 7290 HP:0007018 Attention deficit hyperactivity disorder ORPHANET:567 HIRA 7290 HP:0000670 Carious teeth ORPHANET:567 HIRA 7290 HP:0000316 Hypertelorism ORPHANET:567 HIRA 7290 HP:0001360 Holoprosencephaly ORPHANET:567 HIRA 7290 HP:0002901 Hypocalcemia ORPHANET:567 HIRA 7290 HP:0001933 Subcutaneous hemorrhage ORPHANET:567 HIRA 7290 HP:0001369 Arthritis ORPHANET:567 HIRA 7290 HP:0002566 Intestinal malrotation ORPHANET:567 HIRA 7290 HP:0001829 Foot polydactyly ORPHANET:567 HIRA 7290 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:567 GP1BB 2812 HP:0100627 Displacement of the external urethral meatus ORPHANET:567 GP1BB 2812 HP:0008678 Renal hypoplasia/aplasia ORPHANET:567 GP1BB 2812 HP:0001660 Truncus arteriosus ORPHANET:567 GP1BB 2812 HP:0001702 Abnormality of the tricuspid valve ORPHANET:567 GP1BB 2812 HP:0001629 Ventricular septal defect ORPHANET:567 GP1BB 2812 HP:0001631 Defect in the atrial septum ORPHANET:567 GP1BB 2812 HP:0001744 Splenomegaly ORPHANET:567 GP1BB 2812 HP:0000836 Hyperthyroidism ORPHANET:567 GP1BB 2812 HP:0000648 Optic atrophy ORPHANET:567 GP1BB 2812 HP:0100589 Urogenital fistula ORPHANET:567 GP1BB 2812 HP:0001679 Abnormality of the aorta ORPHANET:567 GP1BB 2812 HP:0001250 Seizures ORPHANET:567 GP1BB 2812 HP:0002414 Spina bifida ORPHANET:567 GP1BB 2812 HP:0005105 Abnormal nasal morphology ORPHANET:567 GP1BB 2812 HP:0000202 Oral cleft ORPHANET:567 GP1BB 2812 HP:0000347 Micrognathia ORPHANET:567 GP1BB 2812 HP:0005293 Venous insufficiency ORPHANET:567 GP1BB 2812 HP:0000276 Long face ORPHANET:567 GP1BB 2812 HP:0100735 Hypertensive crisis ORPHANET:567 GP1BB 2812 HP:0100543 Cognitive impairment ORPHANET:567 GP1BB 2812 HP:0001873 Thrombocytopenia ORPHANET:567 GP1BB 2812 HP:0010515 Aplasia/Hypoplasia of the thymus ORPHANET:567 GP1BB 2812 HP:0002607 Bowel incontinence ORPHANET:567 GP1BB 2812 HP:0000765 Abnormality of the thorax ORPHANET:567 GP1BB 2812 HP:0000582 Upslanted palpebral fissure ORPHANET:567 GP1BB 2812 HP:0001051 Seborrheic dermatitis ORPHANET:567 GP1BB 2812 HP:0008872 Feeding difficulties in infancy ORPHANET:567 GP1BB 2812 HP:0002167 Neurological speech impairment ORPHANET:567 GP1BB 2812 HP:0000486 Strabismus ORPHANET:567 GP1BB 2812 HP:0002239 Gastrointestinal hemorrhage ORPHANET:567 GP1BB 2812 HP:0001608 Abnormality of the voice ORPHANET:567 GP1BB 2812 HP:0000508 Ptosis ORPHANET:567 GP1BB 2812 HP:0000286 Epicanthus ORPHANET:567 GP1BB 2812 HP:0100750 Atelectasis ORPHANET:567 GP1BB 2812 HP:0001080 Biliary tract abnormality ORPHANET:567 GP1BB 2812 HP:0000365 Hearing impairment ORPHANET:567 GP1BB 2812 HP:0000600 Abnormality of the pharynx ORPHANET:567 GP1BB 2812 HP:0001161 Hand polydactyly ORPHANET:567 GP1BB 2812 HP:0000003 Multicystic kidney dysplasia ORPHANET:567 GP1BB 2812 HP:0000717 Autism ORPHANET:567 GP1BB 2812 HP:0002099 Asthma ORPHANET:567 GP1BB 2812 HP:0000388 Otitis media ORPHANET:567 GP1BB 2812 HP:0002999 Patellar dislocation ORPHANET:567 GP1BB 2812 HP:0000518 Cataract ORPHANET:567 GP1BB 2812 HP:0000821 Hypothyroidism ORPHANET:567 GP1BB 2812 HP:0009906 Aplasia/Hypoplasia of the earlobes ORPHANET:567 GP1BB 2812 HP:0002251 Aganglionic megacolon ORPHANET:567 GP1BB 2812 HP:0001252 Muscular hypotonia ORPHANET:567 GP1BB 2812 HP:0001641 Abnormality of the pulmonary valve ORPHANET:567 GP1BB 2812 HP:0000426 Prominent nasal bridge ORPHANET:567 GP1BB 2812 HP:0000682 Abnormality of dental enamel ORPHANET:567 GP1BB 2812 HP:0000829 Hypoparathyroidism ORPHANET:567 GP1BB 2812 HP:0001511 Intrauterine growth retardation ORPHANET:567 GP1BB 2812 HP:0002019 Constipation ORPHANET:567 GP1BB 2812 HP:0000396 Overfolded helix ORPHANET:567 GP1BB 2812 HP:0000076 Vesicoureteral reflux ORPHANET:567 GP1BB 2812 HP:0001061 Acne ORPHANET:567 GP1BB 2812 HP:0001643 Patent ductus arteriosus ORPHANET:567 GP1BB 2812 HP:0000252 Microcephaly ORPHANET:567 GP1BB 2812 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:567 GP1BB 2812 HP:0000494 Downslanted palpebral fissures ORPHANET:567 GP1BB 2812 HP:0010669 Cheekbone underdevelopment ORPHANET:567 GP1BB 2812 HP:0001646 Abnormality of the aortic valve ORPHANET:567 GP1BB 2812 HP:0002960 Autoimmunity ORPHANET:567 GP1BB 2812 HP:0000506 Telecanthus ORPHANET:567 GP1BB 2812 HP:0000470 Short neck ORPHANET:567 GP1BB 2812 HP:0000113 Polycystic kidney dysplasia ORPHANET:567 GP1BB 2812 HP:0001363 Craniosynostosis ORPHANET:567 GP1BB 2812 HP:0001537 Umbilical hernia ORPHANET:567 GP1BB 2812 HP:0006510 Chronic obstructive pulmonary disease ORPHANET:567 GP1BB 2812 HP:0000008 Abnormality of female internal genitalia ORPHANET:567 GP1BB 2812 HP:0001636 Tetralogy of Fallot ORPHANET:567 GP1BB 2812 HP:0000028 Cryptorchidism ORPHANET:567 GP1BB 2812 HP:0007018 Attention deficit hyperactivity disorder ORPHANET:567 GP1BB 2812 HP:0000670 Carious teeth ORPHANET:567 GP1BB 2812 HP:0000316 Hypertelorism ORPHANET:567 GP1BB 2812 HP:0001360 Holoprosencephaly ORPHANET:567 GP1BB 2812 HP:0002901 Hypocalcemia ORPHANET:567 GP1BB 2812 HP:0001933 Subcutaneous hemorrhage ORPHANET:567 GP1BB 2812 HP:0001369 Arthritis ORPHANET:567 GP1BB 2812 HP:0002566 Intestinal malrotation ORPHANET:567 GP1BB 2812 HP:0001829 Foot polydactyly ORPHANET:567 GP1BB 2812 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:567 COMT 1312 HP:0100627 Displacement of the external urethral meatus ORPHANET:567 COMT 1312 HP:0008678 Renal hypoplasia/aplasia ORPHANET:567 COMT 1312 HP:0001660 Truncus arteriosus ORPHANET:567 COMT 1312 HP:0001702 Abnormality of the tricuspid valve ORPHANET:567 COMT 1312 HP:0001629 Ventricular septal defect ORPHANET:567 COMT 1312 HP:0001631 Defect in the atrial septum ORPHANET:567 COMT 1312 HP:0001744 Splenomegaly ORPHANET:567 COMT 1312 HP:0000836 Hyperthyroidism ORPHANET:567 COMT 1312 HP:0000648 Optic atrophy ORPHANET:567 COMT 1312 HP:0100589 Urogenital fistula ORPHANET:567 COMT 1312 HP:0001679 Abnormality of the aorta ORPHANET:567 COMT 1312 HP:0001250 Seizures ORPHANET:567 COMT 1312 HP:0002414 Spina bifida ORPHANET:567 COMT 1312 HP:0005105 Abnormal nasal morphology ORPHANET:567 COMT 1312 HP:0000202 Oral cleft ORPHANET:567 COMT 1312 HP:0000347 Micrognathia ORPHANET:567 COMT 1312 HP:0005293 Venous insufficiency ORPHANET:567 COMT 1312 HP:0000276 Long face ORPHANET:567 COMT 1312 HP:0100735 Hypertensive crisis ORPHANET:567 COMT 1312 HP:0100543 Cognitive impairment ORPHANET:567 COMT 1312 HP:0001873 Thrombocytopenia ORPHANET:567 COMT 1312 HP:0010515 Aplasia/Hypoplasia of the thymus ORPHANET:567 COMT 1312 HP:0002607 Bowel incontinence ORPHANET:567 COMT 1312 HP:0000765 Abnormality of the thorax ORPHANET:567 COMT 1312 HP:0000582 Upslanted palpebral fissure ORPHANET:567 COMT 1312 HP:0001051 Seborrheic dermatitis ORPHANET:567 COMT 1312 HP:0008872 Feeding difficulties in infancy ORPHANET:567 COMT 1312 HP:0002167 Neurological speech impairment ORPHANET:567 COMT 1312 HP:0000486 Strabismus ORPHANET:567 COMT 1312 HP:0002239 Gastrointestinal hemorrhage ORPHANET:567 COMT 1312 HP:0001608 Abnormality of the voice ORPHANET:567 COMT 1312 HP:0000508 Ptosis ORPHANET:567 COMT 1312 HP:0000286 Epicanthus ORPHANET:567 COMT 1312 HP:0100750 Atelectasis ORPHANET:567 COMT 1312 HP:0001080 Biliary tract abnormality ORPHANET:567 COMT 1312 HP:0000365 Hearing impairment ORPHANET:567 COMT 1312 HP:0000600 Abnormality of the pharynx ORPHANET:567 COMT 1312 HP:0001161 Hand polydactyly ORPHANET:567 COMT 1312 HP:0000003 Multicystic kidney dysplasia ORPHANET:567 COMT 1312 HP:0000717 Autism ORPHANET:567 COMT 1312 HP:0002099 Asthma ORPHANET:567 COMT 1312 HP:0000388 Otitis media ORPHANET:567 COMT 1312 HP:0002999 Patellar dislocation ORPHANET:567 COMT 1312 HP:0000518 Cataract ORPHANET:567 COMT 1312 HP:0000821 Hypothyroidism ORPHANET:567 COMT 1312 HP:0009906 Aplasia/Hypoplasia of the earlobes ORPHANET:567 COMT 1312 HP:0002251 Aganglionic megacolon ORPHANET:567 COMT 1312 HP:0001252 Muscular hypotonia ORPHANET:567 COMT 1312 HP:0001641 Abnormality of the pulmonary valve ORPHANET:567 COMT 1312 HP:0000426 Prominent nasal bridge ORPHANET:567 COMT 1312 HP:0000682 Abnormality of dental enamel ORPHANET:567 COMT 1312 HP:0000829 Hypoparathyroidism ORPHANET:567 COMT 1312 HP:0001511 Intrauterine growth retardation ORPHANET:567 COMT 1312 HP:0002019 Constipation ORPHANET:567 COMT 1312 HP:0000396 Overfolded helix ORPHANET:567 COMT 1312 HP:0000076 Vesicoureteral reflux ORPHANET:567 COMT 1312 HP:0001061 Acne ORPHANET:567 COMT 1312 HP:0001643 Patent ductus arteriosus ORPHANET:567 COMT 1312 HP:0000252 Microcephaly ORPHANET:567 COMT 1312 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:567 COMT 1312 HP:0000494 Downslanted palpebral fissures ORPHANET:567 COMT 1312 HP:0010669 Cheekbone underdevelopment ORPHANET:567 COMT 1312 HP:0001646 Abnormality of the aortic valve ORPHANET:567 COMT 1312 HP:0002960 Autoimmunity ORPHANET:567 COMT 1312 HP:0000506 Telecanthus ORPHANET:567 COMT 1312 HP:0000470 Short neck ORPHANET:567 COMT 1312 HP:0000113 Polycystic kidney dysplasia ORPHANET:567 COMT 1312 HP:0001363 Craniosynostosis ORPHANET:567 COMT 1312 HP:0001537 Umbilical hernia ORPHANET:567 COMT 1312 HP:0006510 Chronic obstructive pulmonary disease ORPHANET:567 COMT 1312 HP:0000008 Abnormality of female internal genitalia ORPHANET:567 COMT 1312 HP:0001636 Tetralogy of Fallot ORPHANET:567 COMT 1312 HP:0000028 Cryptorchidism ORPHANET:567 COMT 1312 HP:0007018 Attention deficit hyperactivity disorder ORPHANET:567 COMT 1312 HP:0000670 Carious teeth ORPHANET:567 COMT 1312 HP:0000316 Hypertelorism ORPHANET:567 COMT 1312 HP:0001360 Holoprosencephaly ORPHANET:567 COMT 1312 HP:0002901 Hypocalcemia ORPHANET:567 COMT 1312 HP:0001933 Subcutaneous hemorrhage ORPHANET:567 COMT 1312 HP:0001369 Arthritis ORPHANET:567 COMT 1312 HP:0002566 Intestinal malrotation ORPHANET:567 COMT 1312 HP:0001829 Foot polydactyly ORPHANET:567 COMT 1312 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:567 TBX1 6899 HP:0100627 Displacement of the external urethral meatus ORPHANET:567 TBX1 6899 HP:0008678 Renal hypoplasia/aplasia ORPHANET:567 TBX1 6899 HP:0001660 Truncus arteriosus ORPHANET:567 TBX1 6899 HP:0001702 Abnormality of the tricuspid valve ORPHANET:567 TBX1 6899 HP:0001629 Ventricular septal defect ORPHANET:567 TBX1 6899 HP:0001631 Defect in the atrial septum ORPHANET:567 TBX1 6899 HP:0001744 Splenomegaly ORPHANET:567 TBX1 6899 HP:0000836 Hyperthyroidism ORPHANET:567 TBX1 6899 HP:0000648 Optic atrophy ORPHANET:567 TBX1 6899 HP:0100589 Urogenital fistula ORPHANET:567 TBX1 6899 HP:0001679 Abnormality of the aorta ORPHANET:567 TBX1 6899 HP:0001250 Seizures ORPHANET:567 TBX1 6899 HP:0002414 Spina bifida ORPHANET:567 TBX1 6899 HP:0005105 Abnormal nasal morphology ORPHANET:567 TBX1 6899 HP:0000202 Oral cleft ORPHANET:567 TBX1 6899 HP:0000347 Micrognathia ORPHANET:567 TBX1 6899 HP:0005293 Venous insufficiency ORPHANET:567 TBX1 6899 HP:0000276 Long face ORPHANET:567 TBX1 6899 HP:0100735 Hypertensive crisis ORPHANET:567 TBX1 6899 HP:0100543 Cognitive impairment ORPHANET:567 TBX1 6899 HP:0001873 Thrombocytopenia ORPHANET:567 TBX1 6899 HP:0010515 Aplasia/Hypoplasia of the thymus ORPHANET:567 TBX1 6899 HP:0002607 Bowel incontinence ORPHANET:567 TBX1 6899 HP:0000765 Abnormality of the thorax ORPHANET:567 TBX1 6899 HP:0000582 Upslanted palpebral fissure ORPHANET:567 TBX1 6899 HP:0001051 Seborrheic dermatitis ORPHANET:567 TBX1 6899 HP:0008872 Feeding difficulties in infancy ORPHANET:567 TBX1 6899 HP:0002167 Neurological speech impairment ORPHANET:567 TBX1 6899 HP:0000486 Strabismus ORPHANET:567 TBX1 6899 HP:0002239 Gastrointestinal hemorrhage ORPHANET:567 TBX1 6899 HP:0001608 Abnormality of the voice ORPHANET:567 TBX1 6899 HP:0000508 Ptosis ORPHANET:567 TBX1 6899 HP:0000286 Epicanthus ORPHANET:567 TBX1 6899 HP:0100750 Atelectasis ORPHANET:567 TBX1 6899 HP:0001080 Biliary tract abnormality ORPHANET:567 TBX1 6899 HP:0000365 Hearing impairment ORPHANET:567 TBX1 6899 HP:0000600 Abnormality of the pharynx ORPHANET:567 TBX1 6899 HP:0001161 Hand polydactyly ORPHANET:567 TBX1 6899 HP:0000003 Multicystic kidney dysplasia ORPHANET:567 TBX1 6899 HP:0000717 Autism ORPHANET:567 TBX1 6899 HP:0002099 Asthma ORPHANET:567 TBX1 6899 HP:0000388 Otitis media ORPHANET:567 TBX1 6899 HP:0002999 Patellar dislocation ORPHANET:567 TBX1 6899 HP:0000518 Cataract ORPHANET:567 TBX1 6899 HP:0000821 Hypothyroidism ORPHANET:567 TBX1 6899 HP:0009906 Aplasia/Hypoplasia of the earlobes ORPHANET:567 TBX1 6899 HP:0002251 Aganglionic megacolon ORPHANET:567 TBX1 6899 HP:0001252 Muscular hypotonia ORPHANET:567 TBX1 6899 HP:0001641 Abnormality of the pulmonary valve ORPHANET:567 TBX1 6899 HP:0000426 Prominent nasal bridge ORPHANET:567 TBX1 6899 HP:0000682 Abnormality of dental enamel ORPHANET:567 TBX1 6899 HP:0000829 Hypoparathyroidism ORPHANET:567 TBX1 6899 HP:0001511 Intrauterine growth retardation ORPHANET:567 TBX1 6899 HP:0002019 Constipation ORPHANET:567 TBX1 6899 HP:0000396 Overfolded helix ORPHANET:567 TBX1 6899 HP:0000076 Vesicoureteral reflux ORPHANET:567 TBX1 6899 HP:0001061 Acne ORPHANET:567 TBX1 6899 HP:0001643 Patent ductus arteriosus ORPHANET:567 TBX1 6899 HP:0000252 Microcephaly ORPHANET:567 TBX1 6899 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:567 TBX1 6899 HP:0000494 Downslanted palpebral fissures ORPHANET:567 TBX1 6899 HP:0010669 Cheekbone underdevelopment ORPHANET:567 TBX1 6899 HP:0001646 Abnormality of the aortic valve ORPHANET:567 TBX1 6899 HP:0002960 Autoimmunity ORPHANET:567 TBX1 6899 HP:0000506 Telecanthus ORPHANET:567 TBX1 6899 HP:0000470 Short neck ORPHANET:567 TBX1 6899 HP:0000113 Polycystic kidney dysplasia ORPHANET:567 TBX1 6899 HP:0001363 Craniosynostosis ORPHANET:567 TBX1 6899 HP:0001537 Umbilical hernia ORPHANET:567 TBX1 6899 HP:0006510 Chronic obstructive pulmonary disease ORPHANET:567 TBX1 6899 HP:0000008 Abnormality of female internal genitalia ORPHANET:567 TBX1 6899 HP:0001636 Tetralogy of Fallot ORPHANET:567 TBX1 6899 HP:0000028 Cryptorchidism ORPHANET:567 TBX1 6899 HP:0007018 Attention deficit hyperactivity disorder ORPHANET:567 TBX1 6899 HP:0000670 Carious teeth ORPHANET:567 TBX1 6899 HP:0000316 Hypertelorism ORPHANET:567 TBX1 6899 HP:0001360 Holoprosencephaly ORPHANET:567 TBX1 6899 HP:0002901 Hypocalcemia ORPHANET:567 TBX1 6899 HP:0001933 Subcutaneous hemorrhage ORPHANET:567 TBX1 6899 HP:0001369 Arthritis ORPHANET:567 TBX1 6899 HP:0002566 Intestinal malrotation ORPHANET:567 TBX1 6899 HP:0001829 Foot polydactyly ORPHANET:567 TBX1 6899 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:567 UFD1L 7353 HP:0100627 Displacement of the external urethral meatus ORPHANET:567 UFD1L 7353 HP:0008678 Renal hypoplasia/aplasia ORPHANET:567 UFD1L 7353 HP:0001660 Truncus arteriosus ORPHANET:567 UFD1L 7353 HP:0001702 Abnormality of the tricuspid valve ORPHANET:567 UFD1L 7353 HP:0001629 Ventricular septal defect ORPHANET:567 UFD1L 7353 HP:0001631 Defect in the atrial septum ORPHANET:567 UFD1L 7353 HP:0001744 Splenomegaly ORPHANET:567 UFD1L 7353 HP:0000836 Hyperthyroidism ORPHANET:567 UFD1L 7353 HP:0000648 Optic atrophy ORPHANET:567 UFD1L 7353 HP:0100589 Urogenital fistula ORPHANET:567 UFD1L 7353 HP:0001679 Abnormality of the aorta ORPHANET:567 UFD1L 7353 HP:0001250 Seizures ORPHANET:567 UFD1L 7353 HP:0002414 Spina bifida ORPHANET:567 UFD1L 7353 HP:0005105 Abnormal nasal morphology ORPHANET:567 UFD1L 7353 HP:0000202 Oral cleft ORPHANET:567 UFD1L 7353 HP:0000347 Micrognathia ORPHANET:567 UFD1L 7353 HP:0005293 Venous insufficiency ORPHANET:567 UFD1L 7353 HP:0000276 Long face ORPHANET:567 UFD1L 7353 HP:0100735 Hypertensive crisis ORPHANET:567 UFD1L 7353 HP:0100543 Cognitive impairment ORPHANET:567 UFD1L 7353 HP:0001873 Thrombocytopenia ORPHANET:567 UFD1L 7353 HP:0010515 Aplasia/Hypoplasia of the thymus ORPHANET:567 UFD1L 7353 HP:0002607 Bowel incontinence ORPHANET:567 UFD1L 7353 HP:0000765 Abnormality of the thorax ORPHANET:567 UFD1L 7353 HP:0000582 Upslanted palpebral fissure ORPHANET:567 UFD1L 7353 HP:0001051 Seborrheic dermatitis ORPHANET:567 UFD1L 7353 HP:0008872 Feeding difficulties in infancy ORPHANET:567 UFD1L 7353 HP:0002167 Neurological speech impairment ORPHANET:567 UFD1L 7353 HP:0000486 Strabismus ORPHANET:567 UFD1L 7353 HP:0002239 Gastrointestinal hemorrhage ORPHANET:567 UFD1L 7353 HP:0001608 Abnormality of the voice ORPHANET:567 UFD1L 7353 HP:0000508 Ptosis ORPHANET:567 UFD1L 7353 HP:0000286 Epicanthus ORPHANET:567 UFD1L 7353 HP:0100750 Atelectasis ORPHANET:567 UFD1L 7353 HP:0001080 Biliary tract abnormality ORPHANET:567 UFD1L 7353 HP:0000365 Hearing impairment ORPHANET:567 UFD1L 7353 HP:0000600 Abnormality of the pharynx ORPHANET:567 UFD1L 7353 HP:0001161 Hand polydactyly ORPHANET:567 UFD1L 7353 HP:0000003 Multicystic kidney dysplasia ORPHANET:567 UFD1L 7353 HP:0000717 Autism ORPHANET:567 UFD1L 7353 HP:0002099 Asthma ORPHANET:567 UFD1L 7353 HP:0000388 Otitis media ORPHANET:567 UFD1L 7353 HP:0002999 Patellar dislocation ORPHANET:567 UFD1L 7353 HP:0000518 Cataract ORPHANET:567 UFD1L 7353 HP:0000821 Hypothyroidism ORPHANET:567 UFD1L 7353 HP:0009906 Aplasia/Hypoplasia of the earlobes ORPHANET:567 UFD1L 7353 HP:0002251 Aganglionic megacolon ORPHANET:567 UFD1L 7353 HP:0001252 Muscular hypotonia ORPHANET:567 UFD1L 7353 HP:0001641 Abnormality of the pulmonary valve ORPHANET:567 UFD1L 7353 HP:0000426 Prominent nasal bridge ORPHANET:567 UFD1L 7353 HP:0000682 Abnormality of dental enamel ORPHANET:567 UFD1L 7353 HP:0000829 Hypoparathyroidism ORPHANET:567 UFD1L 7353 HP:0001511 Intrauterine growth retardation ORPHANET:567 UFD1L 7353 HP:0002019 Constipation ORPHANET:567 UFD1L 7353 HP:0000396 Overfolded helix ORPHANET:567 UFD1L 7353 HP:0000076 Vesicoureteral reflux ORPHANET:567 UFD1L 7353 HP:0001061 Acne ORPHANET:567 UFD1L 7353 HP:0001643 Patent ductus arteriosus ORPHANET:567 UFD1L 7353 HP:0000252 Microcephaly ORPHANET:567 UFD1L 7353 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:567 UFD1L 7353 HP:0000494 Downslanted palpebral fissures ORPHANET:567 UFD1L 7353 HP:0010669 Cheekbone underdevelopment ORPHANET:567 UFD1L 7353 HP:0001646 Abnormality of the aortic valve ORPHANET:567 UFD1L 7353 HP:0002960 Autoimmunity ORPHANET:567 UFD1L 7353 HP:0000506 Telecanthus ORPHANET:567 UFD1L 7353 HP:0000470 Short neck ORPHANET:567 UFD1L 7353 HP:0000113 Polycystic kidney dysplasia ORPHANET:567 UFD1L 7353 HP:0001363 Craniosynostosis ORPHANET:567 UFD1L 7353 HP:0001537 Umbilical hernia ORPHANET:567 UFD1L 7353 HP:0006510 Chronic obstructive pulmonary disease ORPHANET:567 UFD1L 7353 HP:0000008 Abnormality of female internal genitalia ORPHANET:567 UFD1L 7353 HP:0001636 Tetralogy of Fallot ORPHANET:567 UFD1L 7353 HP:0000028 Cryptorchidism ORPHANET:567 UFD1L 7353 HP:0007018 Attention deficit hyperactivity disorder ORPHANET:567 UFD1L 7353 HP:0000670 Carious teeth ORPHANET:567 UFD1L 7353 HP:0000316 Hypertelorism ORPHANET:567 UFD1L 7353 HP:0001360 Holoprosencephaly ORPHANET:567 UFD1L 7353 HP:0002901 Hypocalcemia ORPHANET:567 UFD1L 7353 HP:0001933 Subcutaneous hemorrhage ORPHANET:567 UFD1L 7353 HP:0001369 Arthritis ORPHANET:567 UFD1L 7353 HP:0002566 Intestinal malrotation ORPHANET:567 UFD1L 7353 HP:0001829 Foot polydactyly ORPHANET:567 UFD1L 7353 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:567 ARVCF 421 HP:0100627 Displacement of the external urethral meatus ORPHANET:567 ARVCF 421 HP:0008678 Renal hypoplasia/aplasia ORPHANET:567 ARVCF 421 HP:0001660 Truncus arteriosus ORPHANET:567 ARVCF 421 HP:0001702 Abnormality of the tricuspid valve ORPHANET:567 ARVCF 421 HP:0001629 Ventricular septal defect ORPHANET:567 ARVCF 421 HP:0001631 Defect in the atrial septum ORPHANET:567 ARVCF 421 HP:0001744 Splenomegaly ORPHANET:567 ARVCF 421 HP:0000836 Hyperthyroidism ORPHANET:567 ARVCF 421 HP:0000648 Optic atrophy ORPHANET:567 ARVCF 421 HP:0100589 Urogenital fistula ORPHANET:567 ARVCF 421 HP:0001679 Abnormality of the aorta ORPHANET:567 ARVCF 421 HP:0001250 Seizures ORPHANET:567 ARVCF 421 HP:0002414 Spina bifida ORPHANET:567 ARVCF 421 HP:0005105 Abnormal nasal morphology ORPHANET:567 ARVCF 421 HP:0000202 Oral cleft ORPHANET:567 ARVCF 421 HP:0000347 Micrognathia ORPHANET:567 ARVCF 421 HP:0005293 Venous insufficiency ORPHANET:567 ARVCF 421 HP:0000276 Long face ORPHANET:567 ARVCF 421 HP:0100735 Hypertensive crisis ORPHANET:567 ARVCF 421 HP:0100543 Cognitive impairment ORPHANET:567 ARVCF 421 HP:0001873 Thrombocytopenia ORPHANET:567 ARVCF 421 HP:0010515 Aplasia/Hypoplasia of the thymus ORPHANET:567 ARVCF 421 HP:0002607 Bowel incontinence ORPHANET:567 ARVCF 421 HP:0000765 Abnormality of the thorax ORPHANET:567 ARVCF 421 HP:0000582 Upslanted palpebral fissure ORPHANET:567 ARVCF 421 HP:0001051 Seborrheic dermatitis ORPHANET:567 ARVCF 421 HP:0008872 Feeding difficulties in infancy ORPHANET:567 ARVCF 421 HP:0002167 Neurological speech impairment ORPHANET:567 ARVCF 421 HP:0000486 Strabismus ORPHANET:567 ARVCF 421 HP:0002239 Gastrointestinal hemorrhage ORPHANET:567 ARVCF 421 HP:0001608 Abnormality of the voice ORPHANET:567 ARVCF 421 HP:0000508 Ptosis ORPHANET:567 ARVCF 421 HP:0000286 Epicanthus ORPHANET:567 ARVCF 421 HP:0100750 Atelectasis ORPHANET:567 ARVCF 421 HP:0001080 Biliary tract abnormality ORPHANET:567 ARVCF 421 HP:0000365 Hearing impairment ORPHANET:567 ARVCF 421 HP:0000600 Abnormality of the pharynx ORPHANET:567 ARVCF 421 HP:0001161 Hand polydactyly ORPHANET:567 ARVCF 421 HP:0000003 Multicystic kidney dysplasia ORPHANET:567 ARVCF 421 HP:0000717 Autism ORPHANET:567 ARVCF 421 HP:0002099 Asthma ORPHANET:567 ARVCF 421 HP:0000388 Otitis media ORPHANET:567 ARVCF 421 HP:0002999 Patellar dislocation ORPHANET:567 ARVCF 421 HP:0000518 Cataract ORPHANET:567 ARVCF 421 HP:0000821 Hypothyroidism ORPHANET:567 ARVCF 421 HP:0009906 Aplasia/Hypoplasia of the earlobes ORPHANET:567 ARVCF 421 HP:0002251 Aganglionic megacolon ORPHANET:567 ARVCF 421 HP:0001252 Muscular hypotonia ORPHANET:567 ARVCF 421 HP:0001641 Abnormality of the pulmonary valve ORPHANET:567 ARVCF 421 HP:0000426 Prominent nasal bridge ORPHANET:567 ARVCF 421 HP:0000682 Abnormality of dental enamel ORPHANET:567 ARVCF 421 HP:0000829 Hypoparathyroidism ORPHANET:567 ARVCF 421 HP:0001511 Intrauterine growth retardation ORPHANET:567 ARVCF 421 HP:0002019 Constipation ORPHANET:567 ARVCF 421 HP:0000396 Overfolded helix ORPHANET:567 ARVCF 421 HP:0000076 Vesicoureteral reflux ORPHANET:567 ARVCF 421 HP:0001061 Acne ORPHANET:567 ARVCF 421 HP:0001643 Patent ductus arteriosus ORPHANET:567 ARVCF 421 HP:0000252 Microcephaly ORPHANET:567 ARVCF 421 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:567 ARVCF 421 HP:0000494 Downslanted palpebral fissures ORPHANET:567 ARVCF 421 HP:0010669 Cheekbone underdevelopment ORPHANET:567 ARVCF 421 HP:0001646 Abnormality of the aortic valve ORPHANET:567 ARVCF 421 HP:0002960 Autoimmunity ORPHANET:567 ARVCF 421 HP:0000506 Telecanthus ORPHANET:567 ARVCF 421 HP:0000470 Short neck ORPHANET:567 ARVCF 421 HP:0000113 Polycystic kidney dysplasia ORPHANET:567 ARVCF 421 HP:0001363 Craniosynostosis ORPHANET:567 ARVCF 421 HP:0001537 Umbilical hernia ORPHANET:567 ARVCF 421 HP:0006510 Chronic obstructive pulmonary disease ORPHANET:567 ARVCF 421 HP:0000008 Abnormality of female internal genitalia ORPHANET:567 ARVCF 421 HP:0001636 Tetralogy of Fallot ORPHANET:567 ARVCF 421 HP:0000028 Cryptorchidism ORPHANET:567 ARVCF 421 HP:0007018 Attention deficit hyperactivity disorder ORPHANET:567 ARVCF 421 HP:0000670 Carious teeth ORPHANET:567 ARVCF 421 HP:0000316 Hypertelorism ORPHANET:567 ARVCF 421 HP:0001360 Holoprosencephaly ORPHANET:567 ARVCF 421 HP:0002901 Hypocalcemia ORPHANET:567 ARVCF 421 HP:0001933 Subcutaneous hemorrhage ORPHANET:567 ARVCF 421 HP:0001369 Arthritis ORPHANET:567 ARVCF 421 HP:0002566 Intestinal malrotation ORPHANET:567 ARVCF 421 HP:0001829 Foot polydactyly ORPHANET:567 ARVCF 421 HP:0000368 Low-set, posteriorly rotated ears OMIM:614456 MITF 4286 HP:0012056 Cutaneous melanoma OMIM:614456 MITF 4286 HP:0000006 Autosomal dominant inheritance OMIM:601001 KRT5 3852 HP:0003828 Variable expressivity OMIM:601001 KRT5 3852 HP:0001597 Abnormality of the nail OMIM:601001 KRT5 3852 HP:0008066 Abnormal blistering of the skin OMIM:601001 KRT5 3852 HP:0001807 Ridged nail OMIM:601001 KRT5 3852 HP:0001805 Thick nail OMIM:601001 KRT5 3852 HP:0000007 Autosomal recessive inheritance OMIM:601001 KRT5 3852 HP:0008064 Ichthyosis OMIM:601001 KRT5 3852 HP:0001903 Anemia OMIM:601001 KRT5 3852 HP:0006480 Premature loss of teeth OMIM:601001 KRT5 3852 HP:0003577 Congenital onset OMIM:601001 KRT5 3852 HP:0000982 Palmoplantar keratoderma OMIM:601001 KRT5 3852 HP:0000670 Carious teeth OMIM:601001 KRT14 3861 HP:0003828 Variable expressivity OMIM:601001 KRT14 3861 HP:0001597 Abnormality of the nail OMIM:601001 KRT14 3861 HP:0008066 Abnormal blistering of the skin OMIM:601001 KRT14 3861 HP:0001807 Ridged nail OMIM:601001 KRT14 3861 HP:0001805 Thick nail OMIM:601001 KRT14 3861 HP:0000007 Autosomal recessive inheritance OMIM:601001 KRT14 3861 HP:0008064 Ichthyosis OMIM:601001 KRT14 3861 HP:0001903 Anemia OMIM:601001 KRT14 3861 HP:0006480 Premature loss of teeth OMIM:601001 KRT14 3861 HP:0003577 Congenital onset OMIM:601001 KRT14 3861 HP:0000982 Palmoplantar keratoderma OMIM:601001 KRT14 3861 HP:0000670 Carious teeth ORPHANET:2805 PTF1A 256297 HP:0100651 Type I diabetes mellitus ORPHANET:2805 PTF1A 256297 HP:0009800 Maternal diabetes ORPHANET:2805 PTF1A 256297 HP:0001732 Abnormality of the pancreas ORPHANET:2805 PTF1A 256297 HP:0001511 Intrauterine growth retardation ORPHANET:2805 PDX1 3651 HP:0100651 Type I diabetes mellitus ORPHANET:2805 PDX1 3651 HP:0009800 Maternal diabetes ORPHANET:2805 PDX1 3651 HP:0001732 Abnormality of the pancreas ORPHANET:2805 PDX1 3651 HP:0001511 Intrauterine growth retardation OMIM:614941 EDARADD 128178 HP:0008070 Sparse hair OMIM:614941 EDARADD 128178 HP:0000970 Anhidrosis OMIM:614941 EDARADD 128178 HP:0000958 Dry skin OMIM:614941 EDARADD 128178 HP:0002561 Absent nipple OMIM:614941 EDARADD 128178 HP:0000232 Everted lower lip vermilion OMIM:614941 EDARADD 128178 HP:0006483 Abnormal number of teeth OMIM:614941 EDARADD 128178 HP:0000366 Abnormality of the nose OMIM:614941 EDARADD 128178 HP:0000968 Ectodermal dysplasia OMIM:614941 EDARADD 128178 HP:0000290 Abnormality of the forehead OMIM:616233 DNAJB2 3300 HP:0002936 Distal sensory impairment OMIM:616233 DNAJB2 3300 HP:0003376 Steppage gait OMIM:214100 PEX1 5189 HP:0001838 Rocker bottom foot OMIM:214100 PEX1 5189 HP:0000158 Macroglossia OMIM:214100 PEX1 5189 HP:0000501 Glaucoma OMIM:214100 PEX1 5189 HP:0000348 High forehead OMIM:214100 PEX1 5189 HP:0006894 Hypoplastic olfactory lobes OMIM:214100 PEX1 5189 HP:0000347 Micrognathia OMIM:214100 PEX1 5189 HP:0001250 Seizures OMIM:214100 PEX1 5189 HP:0001508 Failure to thrive OMIM:214100 PEX1 5189 HP:0001840 Metatarsus adductus OMIM:214100 PEX1 5189 HP:0000543 Optic disc pallor OMIM:214100 PEX1 5189 HP:0002416 Subependymal cysts OMIM:214100 PEX1 5189 HP:0000047 Hypospadias OMIM:214100 PEX1 5189 HP:0001088 Brushfield spots OMIM:214100 PEX1 5189 HP:0012368 Flat face OMIM:214100 PEX1 5189 HP:0000244 Brachyturricephaly OMIM:214100 PEX1 5189 HP:0000057 Clitoromegaly OMIM:214100 PEX1 5189 HP:0002240 Hepatomegaly OMIM:214100 PEX1 5189 HP:0000126 Hydronephrosis OMIM:214100 PEX1 5189 HP:0002282 Heterotopia OMIM:214100 PEX1 5189 HP:0002750 Delayed skeletal maturation OMIM:214100 PEX1 5189 HP:0002126 Polymicrogyria OMIM:214100 PEX1 5189 HP:0005989 Redundant neck skin OMIM:214100 PEX1 5189 HP:0001401 Intrahepatic biliary dysgenesis OMIM:214100 PEX1 5189 HP:0002967 Cubitus valgus OMIM:214100 PEX1 5189 HP:0005469 Flat occiput OMIM:214100 PEX1 5189 HP:0012592 Albuminuria OMIM:214100 PEX1 5189 HP:0000463 Anteverted nares OMIM:214100 PEX1 5189 HP:0001623 Breech presentation OMIM:214100 PEX1 5189 HP:0001591 Bell-shaped thorax OMIM:214100 PEX1 5189 HP:0006579 Prolonged neonatal jaundice OMIM:214100 PEX1 5189 HP:0000028 Cryptorchidism OMIM:214100 PEX1 5189 HP:0000639 Nystagmus OMIM:214100 PEX1 5189 HP:0001643 Patent ductus arteriosus OMIM:214100 PEX1 5189 HP:0011039 Abnormality of the helix OMIM:214100 PEX1 5189 HP:0000286 Epicanthus OMIM:214100 PEX1 5189 HP:0000358 Posteriorly rotated ears OMIM:214100 PEX1 5189 HP:0004492 Widely patent fontanelles and sutures OMIM:214100 PEX1 5189 HP:0001762 Talipes equinovarus OMIM:214100 PEX1 5189 HP:0001252 Muscular hypotonia OMIM:214100 PEX1 5189 HP:0000835 Adrenal hypoplasia OMIM:214100 PEX1 5189 HP:0001284 Areflexia OMIM:214100 PEX1 5189 HP:0001425 Heterogeneous OMIM:214100 PEX1 5189 HP:0006887 Intellectual disability, progressive OMIM:214100 PEX1 5189 HP:0004734 Renal cortical microcysts OMIM:214100 PEX1 5189 HP:0001629 Ventricular septal defect OMIM:214100 PEX1 5189 HP:0001265 Hyporeflexia OMIM:214100 PEX1 5189 HP:0002089 Pulmonary hypoplasia OMIM:214100 PEX1 5189 HP:0000311 Round face OMIM:214100 PEX1 5189 HP:0000272 Malar flattening OMIM:214100 PEX1 5189 HP:0010808 Protruding tongue OMIM:214100 PEX1 5189 HP:0003455 Elevated long chain fatty acids OMIM:214100 PEX1 5189 HP:0000407 Sensorineural hearing impairment OMIM:214100 PEX1 5189 HP:0000007 Autosomal recessive inheritance OMIM:214100 PEX1 5189 HP:0000518 Cataract OMIM:214100 PEX1 5189 HP:0010864 Intellectual disability, severe OMIM:214100 PEX1 5189 HP:0007759 Opacification of the corneal stroma OMIM:214100 PEX1 5189 HP:0000256 Macrocephaly OMIM:214100 PEX1 5189 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:214100 PEX1 5189 HP:0000316 Hypertelorism OMIM:214100 PEX1 5189 HP:0001193 Ulnar deviation of the hand or of fingers of the hand OMIM:214100 PEX1 5189 HP:0000218 High palate OMIM:214100 PEX1 5189 HP:0010655 Epiphyseal stippling OMIM:214100 PEX1 5189 HP:0000582 Upslanted palpebral fissure OMIM:214100 PEX1 5189 HP:0003355 Aminoaciduria OMIM:214100 PEX1 5189 HP:0000954 Single transverse palmar crease OMIM:214100 PEX1 5189 HP:0000580 Pigmentary retinopathy OMIM:214100 PEX1 5189 HP:0000512 Abnormal electroretinogram OMIM:615490 TRIM2 23321 HP:0003477 Peripheral axonal neuropathy OMIM:615490 TRIM2 23321 HP:0003199 Decreased muscle mass OMIM:615490 TRIM2 23321 HP:0001290 Generalized hypotonia OMIM:615490 TRIM2 23321 HP:0001761 Pes cavus OMIM:615490 TRIM2 23321 HP:0001284 Areflexia OMIM:615490 TRIM2 23321 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:615490 TRIM2 23321 HP:0001324 Muscle weakness OMIM:615490 TRIM2 23321 HP:0000007 Autosomal recessive inheritance OMIM:615490 TRIM2 23321 HP:0002136 Broad-based gait OMIM:274150 ADAMTS13 11093 HP:0001289 Confusion OMIM:274150 ADAMTS13 11093 HP:0002098 Respiratory distress OMIM:274150 ADAMTS13 11093 HP:0001937 Microangiopathic hemolytic anemia OMIM:274150 ADAMTS13 11093 HP:0001337 Tremor OMIM:274150 ADAMTS13 11093 HP:0005575 Hemolytic-uremic syndrome OMIM:274150 ADAMTS13 11093 HP:0003259 Elevated serum creatinine OMIM:274150 ADAMTS13 11093 HP:0001981 Schistocytosis OMIM:274150 ADAMTS13 11093 HP:0000093 Proteinuria OMIM:274150 ADAMTS13 11093 HP:0003138 Increased blood urea nitrogen (BUN) OMIM:274150 ADAMTS13 11093 HP:0001873 Thrombocytopenia OMIM:274150 ADAMTS13 11093 HP:0001945 Fever OMIM:274150 ADAMTS13 11093 HP:0006579 Prolonged neonatal jaundice OMIM:274150 ADAMTS13 11093 HP:0000007 Autosomal recessive inheritance OMIM:274150 ADAMTS13 11093 HP:0001425 Heterogeneous OMIM:274150 ADAMTS13 11093 HP:0002151 Increased serum lactate OMIM:274150 ADAMTS13 11093 HP:0002907 Microscopic hematuria OMIM:274150 ADAMTS13 11093 HP:0001923 Reticulocytosis OMIM:608643 DDC 1644 HP:0000007 Autosomal recessive inheritance OMIM:608643 DDC 1644 HP:0005968 Temperature instability OMIM:608643 DDC 1644 HP:0002360 Sleep disturbance OMIM:608643 DDC 1644 HP:0001347 Hyperreflexia OMIM:608643 DDC 1644 HP:0002020 Gastroesophageal reflux OMIM:608643 DDC 1644 HP:0002509 Limb hypertonia OMIM:608643 DDC 1644 HP:0002615 Hypotension OMIM:608643 DDC 1644 HP:0003785 Decreased CSF homovanillic acid (HVA) OMIM:608643 DDC 1644 HP:0003593 Infantile onset OMIM:608643 DDC 1644 HP:0000616 Miosis OMIM:608643 DDC 1644 HP:0000271 Abnormality of the face OMIM:608643 DDC 1644 HP:0002019 Constipation OMIM:608643 DDC 1644 HP:0003487 Babinski sign OMIM:608643 DDC 1644 HP:0002451 Limb dystonia OMIM:608643 DDC 1644 HP:0001336 Myoclonus OMIM:608643 DDC 1644 HP:0001266 Choreoathetosis OMIM:608643 DDC 1644 HP:0000712 Emotional lability OMIM:608643 DDC 1644 HP:0001263 Global developmental delay OMIM:608643 DDC 1644 HP:0008872 Feeding difficulties in infancy OMIM:608643 DDC 1644 HP:0000737 Irritability OMIM:608643 DDC 1644 HP:0000508 Ptosis OMIM:608643 DDC 1644 HP:0008936 Muscular hypotonia of the trunk OMIM:608643 DDC 1644 HP:0000975 Hyperhidrosis OMIM:608643 DDC 1644 HP:0005964 Intermittent hypothermia OMIM:608643 DDC 1644 HP:0002014 Diarrhea OMIM:606703 ADCY5 111 HP:0001347 Hyperreflexia OMIM:606703 ADCY5 111 HP:0001635 Congestive heart failure OMIM:606703 ADCY5 111 HP:0001644 Dilated cardiomyopathy OMIM:606703 ADCY5 111 HP:0002509 Limb hypertonia OMIM:606703 ADCY5 111 HP:0002322 Resting tremor OMIM:606703 ADCY5 111 HP:0001270 Motor delay OMIM:606703 ADCY5 111 HP:0001332 Dystonia OMIM:606703 ADCY5 111 HP:0000006 Autosomal dominant inheritance OMIM:606703 ADCY5 111 HP:0002072 Chorea OMIM:606703 ADCY5 111 HP:0003621 Juvenile onset OMIM:606703 ADCY5 111 HP:0000739 Anxiety OMIM:606703 ADCY5 111 HP:0001260 Dysarthria OMIM:606703 ADCY5 111 HP:0000317 Facial myokymia OMIM:606703 ADCY5 111 HP:0008936 Muscular hypotonia of the trunk OMIM:606703 ADCY5 111 HP:0100660 Dyskinesia ORPHANET:1872 PITPNM3 83394 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 PITPNM3 83394 HP:0000505 Visual impairment ORPHANET:1872 PITPNM3 83394 HP:0000613 Photophobia ORPHANET:1872 PITPNM3 83394 HP:0000551 Abnormality of color vision ORPHANET:1872 PITPNM3 83394 HP:0000662 Night blindness ORPHANET:1872 CACNA2D4 93589 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 CACNA2D4 93589 HP:0000505 Visual impairment ORPHANET:1872 CACNA2D4 93589 HP:0000613 Photophobia ORPHANET:1872 CACNA2D4 93589 HP:0000551 Abnormality of color vision ORPHANET:1872 CACNA2D4 93589 HP:0000662 Night blindness ORPHANET:1872 CRX 1406 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 CRX 1406 HP:0000505 Visual impairment ORPHANET:1872 CRX 1406 HP:0000613 Photophobia ORPHANET:1872 CRX 1406 HP:0000551 Abnormality of color vision ORPHANET:1872 CRX 1406 HP:0000662 Night blindness ORPHANET:1872 RPGR 6103 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 RPGR 6103 HP:0000505 Visual impairment ORPHANET:1872 RPGR 6103 HP:0000613 Photophobia ORPHANET:1872 RPGR 6103 HP:0000551 Abnormality of color vision ORPHANET:1872 RPGR 6103 HP:0000662 Night blindness ORPHANET:1872 PROM1 8842 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 PROM1 8842 HP:0000505 Visual impairment ORPHANET:1872 PROM1 8842 HP:0000613 Photophobia ORPHANET:1872 PROM1 8842 HP:0000551 Abnormality of color vision ORPHANET:1872 PROM1 8842 HP:0000662 Night blindness ORPHANET:1872 CNGA3 1261 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 CNGA3 1261 HP:0000505 Visual impairment ORPHANET:1872 CNGA3 1261 HP:0000613 Photophobia ORPHANET:1872 CNGA3 1261 HP:0000551 Abnormality of color vision ORPHANET:1872 CNGA3 1261 HP:0000662 Night blindness ORPHANET:1872 RPGRIP1 57096 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 RPGRIP1 57096 HP:0000505 Visual impairment ORPHANET:1872 RPGRIP1 57096 HP:0000613 Photophobia ORPHANET:1872 RPGRIP1 57096 HP:0000551 Abnormality of color vision ORPHANET:1872 RPGRIP1 57096 HP:0000662 Night blindness ORPHANET:1872 SEMA4A 64218 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 SEMA4A 64218 HP:0000505 Visual impairment ORPHANET:1872 SEMA4A 64218 HP:0000613 Photophobia ORPHANET:1872 SEMA4A 64218 HP:0000551 Abnormality of color vision ORPHANET:1872 SEMA4A 64218 HP:0000662 Night blindness ORPHANET:1872 OPN1MW 2652 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 OPN1MW 2652 HP:0000505 Visual impairment ORPHANET:1872 OPN1MW 2652 HP:0000613 Photophobia ORPHANET:1872 OPN1MW 2652 HP:0000551 Abnormality of color vision ORPHANET:1872 OPN1MW 2652 HP:0000662 Night blindness ORPHANET:1872 C8ORF37 157657 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 C8ORF37 157657 HP:0000505 Visual impairment ORPHANET:1872 C8ORF37 157657 HP:0000613 Photophobia ORPHANET:1872 C8ORF37 157657 HP:0000551 Abnormality of color vision ORPHANET:1872 C8ORF37 157657 HP:0000662 Night blindness ORPHANET:1872 GUCA1A 2978 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 GUCA1A 2978 HP:0000505 Visual impairment ORPHANET:1872 GUCA1A 2978 HP:0000613 Photophobia ORPHANET:1872 GUCA1A 2978 HP:0000551 Abnormality of color vision ORPHANET:1872 GUCA1A 2978 HP:0000662 Night blindness ORPHANET:1872 POC1B 282809 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 POC1B 282809 HP:0000505 Visual impairment ORPHANET:1872 POC1B 282809 HP:0000613 Photophobia ORPHANET:1872 POC1B 282809 HP:0000551 Abnormality of color vision ORPHANET:1872 POC1B 282809 HP:0000662 Night blindness ORPHANET:1872 RAX2 84839 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 RAX2 84839 HP:0000505 Visual impairment ORPHANET:1872 RAX2 84839 HP:0000613 Photophobia ORPHANET:1872 RAX2 84839 HP:0000551 Abnormality of color vision ORPHANET:1872 RAX2 84839 HP:0000662 Night blindness ORPHANET:1872 PRPH2 5961 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 PRPH2 5961 HP:0000505 Visual impairment ORPHANET:1872 PRPH2 5961 HP:0000613 Photophobia ORPHANET:1872 PRPH2 5961 HP:0000551 Abnormality of color vision ORPHANET:1872 PRPH2 5961 HP:0000662 Night blindness ORPHANET:1872 AIPL1 23746 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 AIPL1 23746 HP:0000505 Visual impairment ORPHANET:1872 AIPL1 23746 HP:0000613 Photophobia ORPHANET:1872 AIPL1 23746 HP:0000551 Abnormality of color vision ORPHANET:1872 AIPL1 23746 HP:0000662 Night blindness ORPHANET:1872 GUCY2D 3000 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 GUCY2D 3000 HP:0000505 Visual impairment ORPHANET:1872 GUCY2D 3000 HP:0000613 Photophobia ORPHANET:1872 GUCY2D 3000 HP:0000551 Abnormality of color vision ORPHANET:1872 GUCY2D 3000 HP:0000662 Night blindness ORPHANET:1872 RAB28 9364 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 RAB28 9364 HP:0000505 Visual impairment ORPHANET:1872 RAB28 9364 HP:0000613 Photophobia ORPHANET:1872 RAB28 9364 HP:0000551 Abnormality of color vision ORPHANET:1872 RAB28 9364 HP:0000662 Night blindness ORPHANET:1872 CDHR1 92211 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 CDHR1 92211 HP:0000505 Visual impairment ORPHANET:1872 CDHR1 92211 HP:0000613 Photophobia ORPHANET:1872 CDHR1 92211 HP:0000551 Abnormality of color vision ORPHANET:1872 CDHR1 92211 HP:0000662 Night blindness ORPHANET:1872 ADAM9 8754 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 ADAM9 8754 HP:0000505 Visual impairment ORPHANET:1872 ADAM9 8754 HP:0000613 Photophobia ORPHANET:1872 ADAM9 8754 HP:0000551 Abnormality of color vision ORPHANET:1872 ADAM9 8754 HP:0000662 Night blindness ORPHANET:1872 ABCA4 24 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 ABCA4 24 HP:0000505 Visual impairment ORPHANET:1872 ABCA4 24 HP:0000613 Photophobia ORPHANET:1872 ABCA4 24 HP:0000551 Abnormality of color vision ORPHANET:1872 ABCA4 24 HP:0000662 Night blindness ORPHANET:1872 UNC119 9094 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 UNC119 9094 HP:0000505 Visual impairment ORPHANET:1872 UNC119 9094 HP:0000613 Photophobia ORPHANET:1872 UNC119 9094 HP:0000551 Abnormality of color vision ORPHANET:1872 UNC119 9094 HP:0000662 Night blindness ORPHANET:1872 RIMS1 22999 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 RIMS1 22999 HP:0000505 Visual impairment ORPHANET:1872 RIMS1 22999 HP:0000613 Photophobia ORPHANET:1872 RIMS1 22999 HP:0000551 Abnormality of color vision ORPHANET:1872 RIMS1 22999 HP:0000662 Night blindness ORPHANET:1872 CACNA1F 778 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 CACNA1F 778 HP:0000505 Visual impairment ORPHANET:1872 CACNA1F 778 HP:0000613 Photophobia ORPHANET:1872 CACNA1F 778 HP:0000551 Abnormality of color vision ORPHANET:1872 CACNA1F 778 HP:0000662 Night blindness ORPHANET:1872 OPN1LW 5956 HP:0007703 Abnormal retinal pigmentation ORPHANET:1872 OPN1LW 5956 HP:0000505 Visual impairment ORPHANET:1872 OPN1LW 5956 HP:0000613 Photophobia ORPHANET:1872 OPN1LW 5956 HP:0000551 Abnormality of color vision ORPHANET:1872 OPN1LW 5956 HP:0000662 Night blindness OMIM:616052 ISPD 729920 HP:0030046 Hypoglycosylation of alpha-dystroglycan OMIM:616052 ISPD 729920 HP:0008981 Calf muscle hypertrophy OMIM:616052 ISPD 729920 HP:0006785 Limb-girdle muscular dystrophy OMIM:616052 ISPD 729920 HP:0003236 Elevated serum creatine phosphokinase OMIM:616052 ISPD 729920 HP:0003691 Scapular winging OMIM:616052 ISPD 729920 HP:0000158 Macroglossia OMIM:189500 MSX1 4487 HP:0000147 Polycystic ovaries OMIM:189500 MSX1 4487 HP:0001231 Abnormality of the fingernails OMIM:189500 MSX1 4487 HP:0001800 Hypoplastic toenails OMIM:189500 MSX1 4487 HP:0000232 Everted lower lip vermilion OMIM:189500 MSX1 4487 HP:0000684 Delayed eruption of teeth OMIM:189500 MSX1 4487 HP:0008070 Sparse hair OMIM:189500 MSX1 4487 HP:0006347 Microdontia of primary teeth OMIM:189500 MSX1 4487 HP:0009804 Reduced number of teeth OMIM:189500 MSX1 4487 HP:0006349 Agenesis of permanent teeth OMIM:189500 MSX1 4487 HP:0000006 Autosomal dominant inheritance OMIM:189500 MSX1 4487 HP:0001803 Nail pits OMIM:189500 MSX1 4487 HP:0001807 Ridged nail OMIM:189500 MSX1 4487 HP:0002213 Fine hair OMIM:189500 MSX1 4487 HP:0001598 Concave nail OMIM:189500 MSX1 4487 HP:0001792 Small nail OMIM:189500 MSX1 4487 HP:0001798 Anonychia OMIM:614672 GATAD1 57798 HP:0005110 Atrial fibrillation OMIM:614672 GATAD1 57798 HP:0001644 Dilated cardiomyopathy OMIM:614672 GATAD1 57798 HP:0001635 Congestive heart failure OMIM:614672 GATAD1 57798 HP:0000007 Autosomal recessive inheritance OMIM:616324 CHRNE 1145 HP:0003388 Easy fatigability OMIM:616324 CHRNE 1145 HP:0011968 Feeding difficulties OMIM:616324 CHRNE 1145 HP:0000508 Ptosis OMIM:616324 CHRNE 1145 HP:0001252 Muscular hypotonia OMIM:616324 CHRNE 1145 HP:0010628 Facial palsy OMIM:616324 CHRNE 1145 HP:0002093 Respiratory insufficiency OMIM:616324 CHRNE 1145 HP:0000602 Ophthalmoplegia OMIM:616324 CHRNE 1145 HP:0000467 Neck muscle weakness OMIM:615630 IFT172 26160 HP:0000007 Autosomal recessive inheritance OMIM:615630 IFT172 26160 HP:0012622 Chronic kidney disease OMIM:615630 IFT172 26160 HP:0001395 Hepatic fibrosis OMIM:615630 IFT172 26160 HP:0001591 Bell-shaped thorax OMIM:615630 IFT172 26160 HP:0001744 Splenomegaly OMIM:615630 IFT172 26160 HP:0000090 Nephronophthisis OMIM:615630 IFT172 26160 HP:0001629 Ventricular septal defect OMIM:615630 IFT172 26160 HP:0010230 Cone-shaped epiphyses of the phalanges of the hand OMIM:615630 IFT172 26160 HP:0001396 Cholestasis OMIM:615630 IFT172 26160 HP:0002240 Hepatomegaly OMIM:615630 IFT172 26160 HP:0001162 Postaxial hand polydactyly OMIM:615630 IFT172 26160 HP:0002857 Genu valgum OMIM:615630 IFT172 26160 HP:0004322 Short stature OMIM:615630 IFT172 26160 HP:0000833 Glucose intolerance OMIM:615630 IFT172 26160 HP:0000662 Night blindness OMIM:615630 IFT172 26160 HP:0000238 Hydrocephalus OMIM:615630 IFT172 26160 HP:0006644 Thoracic dysplasia OMIM:615630 IFT172 26160 HP:0001513 Obesity OMIM:615630 IFT172 26160 HP:0000773 Short ribs OMIM:615630 IFT172 26160 HP:0005257 Thoracic hypoplasia OMIM:615630 IFT172 26160 HP:0003026 Short long bone OMIM:615630 IFT172 26160 HP:0000546 Retinal degeneration OMIM:615630 IFT172 26160 HP:0001320 Cerebellar vermis hypoplasia OMIM:615630 IFT172 26160 HP:0001399 Hepatic failure OMIM:615630 IFT172 26160 HP:0001249 Intellectual disability OMIM:615630 IFT172 26160 HP:0000657 Oculomotor apraxia OMIM:615630 IFT172 26160 HP:0001156 Brachydactyly syndrome OMIM:615630 IFT172 26160 HP:0000202 Oral cleft OMIM:241410 TBCE 6905 HP:0000358 Posteriorly rotated ears OMIM:241410 TBCE 6905 HP:0002007 Frontal bossing OMIM:241410 TBCE 6905 HP:0000490 Deeply set eye OMIM:241410 TBCE 6905 HP:0003198 Myopathy OMIM:241410 TBCE 6905 HP:0002750 Delayed skeletal maturation OMIM:241410 TBCE 6905 HP:0002905 Hyperphosphatemia OMIM:241410 TBCE 6905 HP:0001511 Intrauterine growth retardation OMIM:241410 TBCE 6905 HP:0011001 Increased bone mineral density OMIM:241410 TBCE 6905 HP:0002119 Ventriculomegaly OMIM:241410 TBCE 6905 HP:0008846 Severe intrauterine growth retardation OMIM:241410 TBCE 6905 HP:0003416 Spinal canal stenosis OMIM:241410 TBCE 6905 HP:0000054 Micropenis OMIM:241410 TBCE 6905 HP:0000347 Micrognathia OMIM:241410 TBCE 6905 HP:0002199 Hypocalcemic seizures OMIM:241410 TBCE 6905 HP:0011220 Prominent forehead OMIM:241410 TBCE 6905 HP:0001281 Tetany OMIM:241410 TBCE 6905 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:241410 TBCE 6905 HP:0005686 Patchy osteosclerosis OMIM:241410 TBCE 6905 HP:0002718 Recurrent bacterial infections OMIM:241410 TBCE 6905 HP:0000007 Autosomal recessive inheritance OMIM:241410 TBCE 6905 HP:0000343 Long philtrum OMIM:241410 TBCE 6905 HP:0002205 Recurrent respiratory infections OMIM:241410 TBCE 6905 HP:0001249 Intellectual disability OMIM:241410 TBCE 6905 HP:0000444 Convex nasal ridge OMIM:241410 TBCE 6905 HP:0004279 Short palm OMIM:241410 TBCE 6905 HP:0005280 Depressed nasal bridge OMIM:241410 TBCE 6905 HP:0001773 Short foot OMIM:241410 TBCE 6905 HP:0000369 Low-set ears OMIM:241410 TBCE 6905 HP:0007759 Opacification of the corneal stroma OMIM:241410 TBCE 6905 HP:0002901 Hypocalcemia OMIM:241410 TBCE 6905 HP:0200055 Small hand OMIM:241410 TBCE 6905 HP:0008198 Congenital hypoparathyroidism OMIM:241410 TBCE 6905 HP:0000682 Abnormality of dental enamel OMIM:241410 TBCE 6905 HP:0004322 Short stature OMIM:241410 TBCE 6905 HP:0000028 Cryptorchidism OMIM:241410 TBCE 6905 HP:0008736 Hypoplasia of penis OMIM:241410 TBCE 6905 HP:0000348 High forehead OMIM:241410 TBCE 6905 HP:0008897 Postnatal growth retardation OMIM:241410 TBCE 6905 HP:0000829 Hypoparathyroidism OMIM:241410 TBCE 6905 HP:0000483 Astigmatism OMIM:241410 TBCE 6905 HP:0000193 Bifid uvula OMIM:241410 TBCE 6905 HP:0000368 Low-set, posteriorly rotated ears OMIM:241410 TBCE 6905 HP:0000233 Thin vermilion border OMIM:241410 TBCE 6905 HP:0000252 Microcephaly OMIM:241410 TBCE 6905 HP:0001250 Seizures OMIM:241410 TBCE 6905 HP:0005374 Cellular immunodeficiency OMIM:241410 TBCE 6905 HP:0005214 Intestinal obstruction OMIM:241410 TBCE 6905 HP:0008572 External ear malformation OMIM:241410 TBCE 6905 HP:0100543 Cognitive impairment OMIM:615923 NPR2 4882 HP:0001166 Arachnodactyly OMIM:615923 NPR2 4882 HP:0002650 Scoliosis OMIM:615923 NPR2 4882 HP:0000938 Osteopenia OMIM:615923 NPR2 4882 HP:0010055 Broad hallux OMIM:615923 NPR2 4882 HP:0001847 Long hallux OMIM:309530 IQSEC2 23096 HP:0001249 Intellectual disability OMIM:309530 IQSEC2 23096 HP:0001419 X-linked recessive inheritance OMIM:312920 PLP1 5354 HP:0001324 Muscle weakness OMIM:312920 PLP1 5354 HP:0100543 Cognitive impairment OMIM:312920 PLP1 5354 HP:0003621 Juvenile onset OMIM:312920 PLP1 5354 HP:0002064 Spastic gait OMIM:312920 PLP1 5354 HP:0002061 Lower limb spasticity OMIM:312920 PLP1 5354 HP:0001258 Spastic paraplegia OMIM:312920 PLP1 5354 HP:0002167 Neurological speech impairment OMIM:312920 PLP1 5354 HP:0002311 Incoordination OMIM:312920 PLP1 5354 HP:0000639 Nystagmus OMIM:312920 PLP1 5354 HP:0001371 Flexion contracture OMIM:312920 PLP1 5354 HP:0002204 Pulmonary embolism OMIM:312920 PLP1 5354 HP:0003202 Skeletal muscle atrophy OMIM:312920 PLP1 5354 HP:0003812 Phenotypic variability OMIM:312920 PLP1 5354 HP:0001260 Dysarthria OMIM:312920 PLP1 5354 HP:0000648 Optic atrophy OMIM:312920 PLP1 5354 HP:0001347 Hyperreflexia OMIM:312920 PLP1 5354 HP:0007340 Lower limb muscle weakness OMIM:312920 PLP1 5354 HP:0002205 Recurrent respiratory infections OMIM:312920 PLP1 5354 HP:0001249 Intellectual disability OMIM:312920 PLP1 5354 HP:0001376 Limitation of joint mobility OMIM:312920 PLP1 5354 HP:0002607 Bowel incontinence OMIM:312920 PLP1 5354 HP:0001310 Dysmetria OMIM:312920 PLP1 5354 HP:0001419 X-linked recessive inheritance OMIM:312920 PLP1 5354 HP:0002313 Spastic paraparesis OMIM:312920 PLP1 5354 HP:0002314 Degeneration of the lateral corticospinal tracts OMIM:312920 PLP1 5354 HP:0002503 Spinocerebellar tract degeneration OMIM:312920 PLP1 5354 HP:0003487 Babinski sign OMIM:312920 PLP1 5354 HP:0002071 Abnormality of extrapyramidal motor function OMIM:312920 PLP1 5354 HP:0001288 Gait disturbance OMIM:312920 PLP1 5354 HP:0012211 Abnormal renal physiology OMIM:312920 PLP1 5354 HP:0001761 Pes cavus OMIM:144650 APOA5 116519 HP:0003563 Hypobetalipoproteinemia OMIM:144650 APOA5 116519 HP:0000006 Autosomal dominant inheritance OMIM:144650 APOA5 116519 HP:0003233 Hypoalphalipoproteinemia OMIM:144650 APOA5 116519 HP:0003362 Increased circulating very-low-density lipoprotein cholesterol OMIM:144650 APOA5 116519 HP:0012238 Hyperchylomicronemia OMIM:614595 CORIN 10699 HP:0100602 Preeclampsia OMIM:614595 CORIN 10699 HP:0100601 Eclampsia OMIM:614595 CORIN 10699 HP:0000006 Autosomal dominant inheritance OMIM:613172 RBM20 282996 HP:0001645 Sudden cardiac death OMIM:613172 RBM20 282996 HP:0001644 Dilated cardiomyopathy OMIM:613172 RBM20 282996 HP:0000006 Autosomal dominant inheritance OMIM:145650 THRB 7068 HP:0002925 Thyroid-stimulating hormone excess OMIM:145650 THRB 7068 HP:0000836 Hyperthyroidism OMIM:145650 THRB 7068 HP:0000006 Autosomal dominant inheritance OMIM:145650 THRB 7068 HP:0002930 Thyroid hormone receptor defect OMIM:607791 MPZ 4359 HP:0003378 Axonal degeneration/regeneration OMIM:607791 MPZ 4359 HP:0001265 Hyporeflexia OMIM:607791 MPZ 4359 HP:0002460 Distal muscle weakness OMIM:607791 MPZ 4359 HP:0002936 Distal sensory impairment OMIM:607791 MPZ 4359 HP:0003481 Segmental peripheral demyelination/remyelination OMIM:607791 MPZ 4359 HP:0003484 Upper limb muscle weakness OMIM:607791 MPZ 4359 HP:0001284 Areflexia OMIM:607791 MPZ 4359 HP:0003693 Distal amyotrophy OMIM:607791 MPZ 4359 HP:0000006 Autosomal dominant inheritance OMIM:612233 HSPD1 3329 HP:0003623 Neonatal onset OMIM:612233 HSPD1 3329 HP:0000639 Nystagmus OMIM:612233 HSPD1 3329 HP:0002187 Intellectual disability, profound OMIM:612233 HSPD1 3329 HP:0001266 Choreoathetosis OMIM:612233 HSPD1 3329 HP:0002104 Apnea OMIM:612233 HSPD1 3329 HP:0003487 Babinski sign OMIM:612233 HSPD1 3329 HP:0001252 Muscular hypotonia OMIM:612233 HSPD1 3329 HP:0000486 Strabismus OMIM:612233 HSPD1 3329 HP:0001250 Seizures OMIM:612233 HSPD1 3329 HP:0002415 Leukodystrophy OMIM:612233 HSPD1 3329 HP:0008872 Feeding difficulties in infancy OMIM:612233 HSPD1 3329 HP:0000007 Autosomal recessive inheritance OMIM:612233 HSPD1 3329 HP:0001371 Flexion contracture OMIM:612233 HSPD1 3329 HP:0002191 Progressive spasticity OMIM:612233 HSPD1 3329 HP:0001263 Global developmental delay OMIM:612233 HSPD1 3329 HP:0001347 Hyperreflexia OMIM:612233 HSPD1 3329 HP:0005484 Postnatal microcephaly OMIM:600721 D2HGDH 728294 HP:0000256 Macrocephaly OMIM:600721 D2HGDH 728294 HP:0001263 Global developmental delay OMIM:600721 D2HGDH 728294 HP:0002104 Apnea OMIM:600721 D2HGDH 728294 HP:0001638 Cardiomyopathy OMIM:600721 D2HGDH 728294 HP:0011220 Prominent forehead OMIM:600721 D2HGDH 728294 HP:0006956 Dilation of lateral ventricles OMIM:600721 D2HGDH 728294 HP:0000347 Micrognathia OMIM:600721 D2HGDH 728294 HP:0012321 D-2-hydroxyglutaric aciduria OMIM:600721 D2HGDH 728294 HP:0002007 Frontal bossing OMIM:600721 D2HGDH 728294 HP:0001249 Intellectual disability OMIM:600721 D2HGDH 728294 HP:0002416 Subependymal cysts OMIM:600721 D2HGDH 728294 HP:0002188 Delayed CNS myelination OMIM:600721 D2HGDH 728294 HP:0001252 Muscular hypotonia OMIM:600721 D2HGDH 728294 HP:0003150 Glutaric aciduria OMIM:600721 D2HGDH 728294 HP:0007105 Infantile encephalopathy OMIM:600721 D2HGDH 728294 HP:0007052 Multifocal cerebral white matter abnormalities OMIM:600721 D2HGDH 728294 HP:0002572 Episodic vomiting OMIM:600721 D2HGDH 728294 HP:0005348 Inspiratory stridor OMIM:600721 D2HGDH 728294 HP:0001324 Muscle weakness OMIM:600721 D2HGDH 728294 HP:0001659 Aortic regurgitation OMIM:600721 D2HGDH 728294 HP:0001250 Seizures OMIM:600721 D2HGDH 728294 HP:0000007 Autosomal recessive inheritance ORPHANET:1052 CEP57 9702 HP:0000457 Depressed nasal ridge ORPHANET:1052 CEP57 9702 HP:0004322 Short stature ORPHANET:1052 CEP57 9702 HP:0006753 Neoplasm of the stomach ORPHANET:1052 CEP57 9702 HP:0000175 Cleft palate ORPHANET:1052 CEP57 9702 HP:0000957 Cafe-au-lait spot ORPHANET:1052 CEP57 9702 HP:0002104 Apnea ORPHANET:1052 CEP57 9702 HP:0000003 Multicystic kidney dysplasia ORPHANET:1052 CEP57 9702 HP:0010880 Increased nuchal translucency ORPHANET:1052 CEP57 9702 HP:0000821 Hypothyroidism ORPHANET:1052 CEP57 9702 HP:0002007 Frontal bossing ORPHANET:1052 CEP57 9702 HP:0000340 Sloping forehead ORPHANET:1052 CEP57 9702 HP:0000252 Microcephaly ORPHANET:1052 CEP57 9702 HP:0010978 Abnormality of immune system physiology ORPHANET:1052 CEP57 9702 HP:0000325 Triangular face ORPHANET:1052 CEP57 9702 HP:0001679 Abnormality of the aorta ORPHANET:1052 CEP57 9702 HP:0001360 Holoprosencephaly ORPHANET:1052 CEP57 9702 HP:0100273 Neoplasm of the colon ORPHANET:1052 CEP57 9702 HP:0002101 Abnormal lung lobation ORPHANET:1052 CEP57 9702 HP:0001541 Ascites ORPHANET:1052 CEP57 9702 HP:0001631 Defect in the atrial septum ORPHANET:1052 CEP57 9702 HP:0005105 Abnormal nasal morphology ORPHANET:1052 CEP57 9702 HP:0200008 Intestinal polyposis ORPHANET:1052 CEP57 9702 HP:0000494 Downslanted palpebral fissures ORPHANET:1052 CEP57 9702 HP:0000518 Cataract ORPHANET:1052 CEP57 9702 HP:0000348 High forehead ORPHANET:1052 CEP57 9702 HP:0000347 Micrognathia ORPHANET:1052 CEP57 9702 HP:0000286 Epicanthus ORPHANET:1052 CEP57 9702 HP:0100242 Sarcoma ORPHANET:1052 CEP57 9702 HP:0000501 Glaucoma ORPHANET:1052 CEP57 9702 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:1052 CEP57 9702 HP:0001561 Polyhydramnios ORPHANET:1052 CEP57 9702 HP:0100650 Vaginal neoplasm ORPHANET:1052 CEP57 9702 HP:0001252 Muscular hypotonia ORPHANET:1052 CEP57 9702 HP:0004209 Clinodactyly of the 5th finger ORPHANET:1052 CEP57 9702 HP:0001250 Seizures ORPHANET:1052 CEP57 9702 HP:0002488 Acute leukemia ORPHANET:1052 CEP57 9702 HP:0007759 Opacification of the corneal stroma ORPHANET:1052 CEP57 9702 HP:0100615 Ovarian neoplasm ORPHANET:1052 CEP57 9702 HP:0100867 Duodenal stenosis ORPHANET:1052 CEP57 9702 HP:0002797 Osteolysis ORPHANET:1052 CEP57 9702 HP:0100543 Cognitive impairment ORPHANET:1052 CEP57 9702 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:1052 CEP57 9702 HP:0002667 Nephroblastoma (Wilms tumor) ORPHANET:1052 CEP57 9702 HP:0001511 Intrauterine growth retardation ORPHANET:1052 CEP57 9702 HP:0003202 Skeletal muscle atrophy ORPHANET:1052 CEP57 9702 HP:0000062 Ambiguous genitalia ORPHANET:1052 CEP57 9702 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:1052 CEP57 9702 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:1052 CEP57 9702 HP:0001305 Dandy-Walker malformation ORPHANET:1052 CEP57 9702 HP:0000364 Hearing abnormality ORPHANET:1052 CEP57 9702 HP:0002863 Myelodysplasia ORPHANET:1052 CEP57 9702 HP:0001000 Abnormality of skin pigmentation ORPHANET:1052 BUB1B 701 HP:0000457 Depressed nasal ridge ORPHANET:1052 BUB1B 701 HP:0004322 Short stature ORPHANET:1052 BUB1B 701 HP:0006753 Neoplasm of the stomach ORPHANET:1052 BUB1B 701 HP:0000175 Cleft palate ORPHANET:1052 BUB1B 701 HP:0000957 Cafe-au-lait spot ORPHANET:1052 BUB1B 701 HP:0002104 Apnea ORPHANET:1052 BUB1B 701 HP:0000003 Multicystic kidney dysplasia ORPHANET:1052 BUB1B 701 HP:0010880 Increased nuchal translucency ORPHANET:1052 BUB1B 701 HP:0000821 Hypothyroidism ORPHANET:1052 BUB1B 701 HP:0002007 Frontal bossing ORPHANET:1052 BUB1B 701 HP:0000340 Sloping forehead ORPHANET:1052 BUB1B 701 HP:0000252 Microcephaly ORPHANET:1052 BUB1B 701 HP:0010978 Abnormality of immune system physiology ORPHANET:1052 BUB1B 701 HP:0000325 Triangular face ORPHANET:1052 BUB1B 701 HP:0001679 Abnormality of the aorta ORPHANET:1052 BUB1B 701 HP:0001360 Holoprosencephaly ORPHANET:1052 BUB1B 701 HP:0100273 Neoplasm of the colon ORPHANET:1052 BUB1B 701 HP:0002101 Abnormal lung lobation ORPHANET:1052 BUB1B 701 HP:0001541 Ascites ORPHANET:1052 BUB1B 701 HP:0001631 Defect in the atrial septum ORPHANET:1052 BUB1B 701 HP:0005105 Abnormal nasal morphology ORPHANET:1052 BUB1B 701 HP:0200008 Intestinal polyposis ORPHANET:1052 BUB1B 701 HP:0000494 Downslanted palpebral fissures ORPHANET:1052 BUB1B 701 HP:0000518 Cataract ORPHANET:1052 BUB1B 701 HP:0000348 High forehead ORPHANET:1052 BUB1B 701 HP:0000347 Micrognathia ORPHANET:1052 BUB1B 701 HP:0000286 Epicanthus ORPHANET:1052 BUB1B 701 HP:0100242 Sarcoma ORPHANET:1052 BUB1B 701 HP:0000501 Glaucoma ORPHANET:1052 BUB1B 701 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:1052 BUB1B 701 HP:0001561 Polyhydramnios ORPHANET:1052 BUB1B 701 HP:0100650 Vaginal neoplasm ORPHANET:1052 BUB1B 701 HP:0001252 Muscular hypotonia ORPHANET:1052 BUB1B 701 HP:0004209 Clinodactyly of the 5th finger ORPHANET:1052 BUB1B 701 HP:0001250 Seizures ORPHANET:1052 BUB1B 701 HP:0002488 Acute leukemia ORPHANET:1052 BUB1B 701 HP:0007759 Opacification of the corneal stroma ORPHANET:1052 BUB1B 701 HP:0100615 Ovarian neoplasm ORPHANET:1052 BUB1B 701 HP:0100867 Duodenal stenosis ORPHANET:1052 BUB1B 701 HP:0002797 Osteolysis ORPHANET:1052 BUB1B 701 HP:0100543 Cognitive impairment ORPHANET:1052 BUB1B 701 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:1052 BUB1B 701 HP:0002667 Nephroblastoma (Wilms tumor) ORPHANET:1052 BUB1B 701 HP:0001511 Intrauterine growth retardation ORPHANET:1052 BUB1B 701 HP:0003202 Skeletal muscle atrophy ORPHANET:1052 BUB1B 701 HP:0000062 Ambiguous genitalia ORPHANET:1052 BUB1B 701 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:1052 BUB1B 701 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:1052 BUB1B 701 HP:0001305 Dandy-Walker malformation ORPHANET:1052 BUB1B 701 HP:0000364 Hearing abnormality ORPHANET:1052 BUB1B 701 HP:0002863 Myelodysplasia ORPHANET:1052 BUB1B 701 HP:0001000 Abnormality of skin pigmentation ORPHANET:1052 BUB1 699 HP:0000457 Depressed nasal ridge ORPHANET:1052 BUB1 699 HP:0004322 Short stature ORPHANET:1052 BUB1 699 HP:0006753 Neoplasm of the stomach ORPHANET:1052 BUB1 699 HP:0000175 Cleft palate ORPHANET:1052 BUB1 699 HP:0000957 Cafe-au-lait spot ORPHANET:1052 BUB1 699 HP:0002104 Apnea ORPHANET:1052 BUB1 699 HP:0000003 Multicystic kidney dysplasia ORPHANET:1052 BUB1 699 HP:0010880 Increased nuchal translucency ORPHANET:1052 BUB1 699 HP:0000821 Hypothyroidism ORPHANET:1052 BUB1 699 HP:0002007 Frontal bossing ORPHANET:1052 BUB1 699 HP:0000340 Sloping forehead ORPHANET:1052 BUB1 699 HP:0000252 Microcephaly ORPHANET:1052 BUB1 699 HP:0010978 Abnormality of immune system physiology ORPHANET:1052 BUB1 699 HP:0000325 Triangular face ORPHANET:1052 BUB1 699 HP:0001679 Abnormality of the aorta ORPHANET:1052 BUB1 699 HP:0001360 Holoprosencephaly ORPHANET:1052 BUB1 699 HP:0100273 Neoplasm of the colon ORPHANET:1052 BUB1 699 HP:0002101 Abnormal lung lobation ORPHANET:1052 BUB1 699 HP:0001541 Ascites ORPHANET:1052 BUB1 699 HP:0001631 Defect in the atrial septum ORPHANET:1052 BUB1 699 HP:0005105 Abnormal nasal morphology ORPHANET:1052 BUB1 699 HP:0200008 Intestinal polyposis ORPHANET:1052 BUB1 699 HP:0000494 Downslanted palpebral fissures ORPHANET:1052 BUB1 699 HP:0000518 Cataract ORPHANET:1052 BUB1 699 HP:0000348 High forehead ORPHANET:1052 BUB1 699 HP:0000347 Micrognathia ORPHANET:1052 BUB1 699 HP:0000286 Epicanthus ORPHANET:1052 BUB1 699 HP:0100242 Sarcoma ORPHANET:1052 BUB1 699 HP:0000501 Glaucoma ORPHANET:1052 BUB1 699 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:1052 BUB1 699 HP:0001561 Polyhydramnios ORPHANET:1052 BUB1 699 HP:0100650 Vaginal neoplasm ORPHANET:1052 BUB1 699 HP:0001252 Muscular hypotonia ORPHANET:1052 BUB1 699 HP:0004209 Clinodactyly of the 5th finger ORPHANET:1052 BUB1 699 HP:0001250 Seizures ORPHANET:1052 BUB1 699 HP:0002488 Acute leukemia ORPHANET:1052 BUB1 699 HP:0007759 Opacification of the corneal stroma ORPHANET:1052 BUB1 699 HP:0100615 Ovarian neoplasm ORPHANET:1052 BUB1 699 HP:0100867 Duodenal stenosis ORPHANET:1052 BUB1 699 HP:0002797 Osteolysis ORPHANET:1052 BUB1 699 HP:0100543 Cognitive impairment ORPHANET:1052 BUB1 699 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:1052 BUB1 699 HP:0002667 Nephroblastoma (Wilms tumor) ORPHANET:1052 BUB1 699 HP:0001511 Intrauterine growth retardation ORPHANET:1052 BUB1 699 HP:0003202 Skeletal muscle atrophy ORPHANET:1052 BUB1 699 HP:0000062 Ambiguous genitalia ORPHANET:1052 BUB1 699 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:1052 BUB1 699 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:1052 BUB1 699 HP:0001305 Dandy-Walker malformation ORPHANET:1052 BUB1 699 HP:0000364 Hearing abnormality ORPHANET:1052 BUB1 699 HP:0002863 Myelodysplasia ORPHANET:1052 BUB1 699 HP:0001000 Abnormality of skin pigmentation ORPHANET:1052 BUB3 9184 HP:0000457 Depressed nasal ridge ORPHANET:1052 BUB3 9184 HP:0004322 Short stature ORPHANET:1052 BUB3 9184 HP:0006753 Neoplasm of the stomach ORPHANET:1052 BUB3 9184 HP:0000175 Cleft palate ORPHANET:1052 BUB3 9184 HP:0000957 Cafe-au-lait spot ORPHANET:1052 BUB3 9184 HP:0002104 Apnea ORPHANET:1052 BUB3 9184 HP:0000003 Multicystic kidney dysplasia ORPHANET:1052 BUB3 9184 HP:0010880 Increased nuchal translucency ORPHANET:1052 BUB3 9184 HP:0000821 Hypothyroidism ORPHANET:1052 BUB3 9184 HP:0002007 Frontal bossing ORPHANET:1052 BUB3 9184 HP:0000340 Sloping forehead ORPHANET:1052 BUB3 9184 HP:0000252 Microcephaly ORPHANET:1052 BUB3 9184 HP:0010978 Abnormality of immune system physiology ORPHANET:1052 BUB3 9184 HP:0000325 Triangular face ORPHANET:1052 BUB3 9184 HP:0001679 Abnormality of the aorta ORPHANET:1052 BUB3 9184 HP:0001360 Holoprosencephaly ORPHANET:1052 BUB3 9184 HP:0100273 Neoplasm of the colon ORPHANET:1052 BUB3 9184 HP:0002101 Abnormal lung lobation ORPHANET:1052 BUB3 9184 HP:0001541 Ascites ORPHANET:1052 BUB3 9184 HP:0001631 Defect in the atrial septum ORPHANET:1052 BUB3 9184 HP:0005105 Abnormal nasal morphology ORPHANET:1052 BUB3 9184 HP:0200008 Intestinal polyposis ORPHANET:1052 BUB3 9184 HP:0000494 Downslanted palpebral fissures ORPHANET:1052 BUB3 9184 HP:0000518 Cataract ORPHANET:1052 BUB3 9184 HP:0000348 High forehead ORPHANET:1052 BUB3 9184 HP:0000347 Micrognathia ORPHANET:1052 BUB3 9184 HP:0000286 Epicanthus ORPHANET:1052 BUB3 9184 HP:0100242 Sarcoma ORPHANET:1052 BUB3 9184 HP:0000501 Glaucoma ORPHANET:1052 BUB3 9184 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:1052 BUB3 9184 HP:0001561 Polyhydramnios ORPHANET:1052 BUB3 9184 HP:0100650 Vaginal neoplasm ORPHANET:1052 BUB3 9184 HP:0001252 Muscular hypotonia ORPHANET:1052 BUB3 9184 HP:0004209 Clinodactyly of the 5th finger ORPHANET:1052 BUB3 9184 HP:0001250 Seizures ORPHANET:1052 BUB3 9184 HP:0002488 Acute leukemia ORPHANET:1052 BUB3 9184 HP:0007759 Opacification of the corneal stroma ORPHANET:1052 BUB3 9184 HP:0100615 Ovarian neoplasm ORPHANET:1052 BUB3 9184 HP:0100867 Duodenal stenosis ORPHANET:1052 BUB3 9184 HP:0002797 Osteolysis ORPHANET:1052 BUB3 9184 HP:0100543 Cognitive impairment ORPHANET:1052 BUB3 9184 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:1052 BUB3 9184 HP:0002667 Nephroblastoma (Wilms tumor) ORPHANET:1052 BUB3 9184 HP:0001511 Intrauterine growth retardation ORPHANET:1052 BUB3 9184 HP:0003202 Skeletal muscle atrophy ORPHANET:1052 BUB3 9184 HP:0000062 Ambiguous genitalia ORPHANET:1052 BUB3 9184 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:1052 BUB3 9184 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:1052 BUB3 9184 HP:0001305 Dandy-Walker malformation ORPHANET:1052 BUB3 9184 HP:0000364 Hearing abnormality ORPHANET:1052 BUB3 9184 HP:0002863 Myelodysplasia ORPHANET:1052 BUB3 9184 HP:0001000 Abnormality of skin pigmentation OMIM:615085 SNX10 29887 HP:0002007 Frontal bossing OMIM:615085 SNX10 29887 HP:0011968 Feeding difficulties OMIM:615085 SNX10 29887 HP:0000256 Macrocephaly OMIM:615085 SNX10 29887 HP:0010628 Facial palsy OMIM:615085 SNX10 29887 HP:0001903 Anemia OMIM:615085 SNX10 29887 HP:0000007 Autosomal recessive inheritance OMIM:615085 SNX10 29887 HP:0001744 Splenomegaly OMIM:615085 SNX10 29887 HP:0001508 Failure to thrive OMIM:615085 SNX10 29887 HP:0000648 Optic atrophy OMIM:615085 SNX10 29887 HP:0011002 Osteopetrosis OMIM:615085 SNX10 29887 HP:0002240 Hepatomegaly OMIM:615085 SNX10 29887 HP:0001873 Thrombocytopenia OMIM:219200 ATP6V0A2 23545 HP:0000545 Myopia OMIM:219200 ATP6V0A2 23545 HP:0000463 Anteverted nares OMIM:219200 ATP6V0A2 23545 HP:0000260 Wide anterior fontanel OMIM:219200 ATP6V0A2 23545 HP:0001508 Failure to thrive OMIM:219200 ATP6V0A2 23545 HP:0003196 Short nose OMIM:219200 ATP6V0A2 23545 HP:0012368 Flat face OMIM:219200 ATP6V0A2 23545 HP:0009125 Lipodystrophy OMIM:219200 ATP6V0A2 23545 HP:0000973 Cutis laxa OMIM:219200 ATP6V0A2 23545 HP:0002007 Frontal bossing OMIM:219200 ATP6V0A2 23545 HP:0001270 Motor delay OMIM:219200 ATP6V0A2 23545 HP:0001305 Dandy-Walker malformation OMIM:219200 ATP6V0A2 23545 HP:0000272 Malar flattening OMIM:219200 ATP6V0A2 23545 HP:0000160 Narrow mouth OMIM:219200 ATP6V0A2 23545 HP:0002650 Scoliosis OMIM:219200 ATP6V0A2 23545 HP:0001382 Joint hypermobility OMIM:219200 ATP6V0A2 23545 HP:0001511 Intrauterine growth retardation OMIM:219200 ATP6V0A2 23545 HP:0000369 Low-set ears OMIM:219200 ATP6V0A2 23545 HP:0000670 Carious teeth OMIM:219200 ATP6V0A2 23545 HP:0000023 Inguinal hernia OMIM:219200 ATP6V0A2 23545 HP:0001582 Redundant skin OMIM:219200 ATP6V0A2 23545 HP:0000218 High palate OMIM:219200 ATP6V0A2 23545 HP:0000343 Long philtrum OMIM:219200 ATP6V0A2 23545 HP:0000486 Strabismus OMIM:219200 ATP6V0A2 23545 HP:0000252 Microcephaly OMIM:219200 ATP6V0A2 23545 HP:0000007 Autosomal recessive inheritance OMIM:219200 ATP6V0A2 23545 HP:0001252 Muscular hypotonia OMIM:219200 ATP6V0A2 23545 HP:0008872 Feeding difficulties in infancy OMIM:219200 ATP6V0A2 23545 HP:0002208 Coarse hair OMIM:219200 ATP6V0A2 23545 HP:0001302 Pachygyria OMIM:219200 ATP6V0A2 23545 HP:0011800 Midface retrusion OMIM:219200 ATP6V0A2 23545 HP:0000494 Downslanted palpebral fissures OMIM:219200 ATP6V0A2 23545 HP:0001249 Intellectual disability OMIM:219200 ATP6V0A2 23545 HP:0001250 Seizures OMIM:219200 ATP6V0A2 23545 HP:0001763 Pes planus OMIM:219200 ATP6V0A2 23545 HP:0001374 Congenital hip dislocation OMIM:219200 ATP6V0A2 23545 HP:0003160 Abnormal isoelectric focusing of serum transferrin OMIM:219200 ATP6V0A2 23545 HP:0002126 Polymicrogyria OMIM:614700 LRBA 987 HP:0001369 Arthritis OMIM:614700 LRBA 987 HP:0002099 Asthma OMIM:614700 LRBA 987 HP:0002583 Colitis OMIM:614700 LRBA 987 HP:0006528 Chronic lung disease OMIM:614700 LRBA 987 HP:0001873 Thrombocytopenia OMIM:614700 LRBA 987 HP:0002090 Pneumonia OMIM:614700 LRBA 987 HP:0001876 Pancytopenia OMIM:614700 LRBA 987 HP:0001508 Failure to thrive OMIM:614700 LRBA 987 HP:0002716 Lymphadenopathy OMIM:614700 LRBA 987 HP:0003676 Progressive disorder OMIM:614700 LRBA 987 HP:0000403 Recurrent otitis media OMIM:614700 LRBA 987 HP:0000821 Hypothyroidism OMIM:614700 LRBA 987 HP:0005263 Gastritis OMIM:614700 LRBA 987 HP:0001510 Growth delay OMIM:614700 LRBA 987 HP:0002720 IgA deficiency OMIM:614700 LRBA 987 HP:0002721 Immunodeficiency OMIM:614700 LRBA 987 HP:0000509 Conjunctivitis OMIM:614700 LRBA 987 HP:0011108 Recurrent sinusitis OMIM:614700 LRBA 987 HP:0002110 Bronchiectasis OMIM:614700 LRBA 987 HP:0002028 Chronic diarrhea OMIM:614700 LRBA 987 HP:0100759 Clubbing of fingers OMIM:614700 LRBA 987 HP:0000007 Autosomal recessive inheritance OMIM:614700 LRBA 987 HP:0002850 IgM deficiency OMIM:614700 LRBA 987 HP:0001875 Neutropenia OMIM:614700 LRBA 987 HP:0001890 Autoimmune hemolytic anemia ORPHANET:90348 ELN 2006 HP:0001641 Abnormality of the pulmonary valve ORPHANET:90348 ELN 2006 HP:0007495 Prematurely aged appearance ORPHANET:90348 ELN 2006 HP:0004299 Hernia of the abdominal wall ORPHANET:90348 ELN 2006 HP:0002097 Emphysema ORPHANET:90348 ELN 2006 HP:0001646 Abnormality of the aortic valve ORPHANET:90348 ELN 2006 HP:0000316 Hypertelorism ORPHANET:90348 ELN 2006 HP:0009124 Abnormality of adipose tissue ORPHANET:90348 ELN 2006 HP:0000973 Cutis laxa ORPHANET:90348 ELN 2006 HP:0005222 Bowel diverticulosis ORPHANET:90348 ELN 2006 HP:0000293 Full cheeks ORPHANET:90348 ELN 2006 HP:0001382 Joint hypermobility ORPHANET:90348 FBLN5 10516 HP:0001641 Abnormality of the pulmonary valve ORPHANET:90348 FBLN5 10516 HP:0007495 Prematurely aged appearance ORPHANET:90348 FBLN5 10516 HP:0004299 Hernia of the abdominal wall ORPHANET:90348 FBLN5 10516 HP:0002097 Emphysema ORPHANET:90348 FBLN5 10516 HP:0001646 Abnormality of the aortic valve ORPHANET:90348 FBLN5 10516 HP:0000316 Hypertelorism ORPHANET:90348 FBLN5 10516 HP:0009124 Abnormality of adipose tissue ORPHANET:90348 FBLN5 10516 HP:0000973 Cutis laxa ORPHANET:90348 FBLN5 10516 HP:0005222 Bowel diverticulosis ORPHANET:90348 FBLN5 10516 HP:0000293 Full cheeks ORPHANET:90348 FBLN5 10516 HP:0001382 Joint hypermobility ORPHANET:1515 WDR35 57539 HP:0000639 Nystagmus ORPHANET:1515 WDR35 57539 HP:0001363 Craniosynostosis ORPHANET:1515 WDR35 57539 HP:0000545 Myopia ORPHANET:1515 WDR35 57539 HP:0000232 Everted lower lip vermilion ORPHANET:1515 WDR35 57539 HP:0000774 Narrow chest ORPHANET:1515 WDR35 57539 HP:0000269 Prominent occiput ORPHANET:1515 WDR35 57539 HP:0009882 Short distal phalanx of finger ORPHANET:1515 WDR35 57539 HP:0000691 Microdontia ORPHANET:1515 WDR35 57539 HP:0001231 Abnormality of the fingernails ORPHANET:1515 WDR35 57539 HP:0009826 Limb undergrowth ORPHANET:1515 WDR35 57539 HP:0000286 Epicanthus ORPHANET:1515 WDR35 57539 HP:0000540 Hypermetropia ORPHANET:1515 WDR35 57539 HP:0006101 Finger syndactyly ORPHANET:1515 WDR35 57539 HP:0010299 Abnormality of dentin ORPHANET:1515 WDR35 57539 HP:0004349 Reduced bone mineral density ORPHANET:1515 WDR35 57539 HP:0002007 Frontal bossing ORPHANET:1515 WDR35 57539 HP:0000767 Pectus excavatum ORPHANET:1515 WDR35 57539 HP:0000463 Anteverted nares ORPHANET:1515 WDR35 57539 HP:0001382 Joint hypermobility ORPHANET:1515 WDR35 57539 HP:0004209 Clinodactyly of the 5th finger ORPHANET:1515 WDR35 57539 HP:0000940 Abnormal diaphysis morphology ORPHANET:1515 WDR35 57539 HP:0000679 Taurodontia ORPHANET:1515 WDR35 57539 HP:0000944 Abnormality of the metaphyses ORPHANET:1515 WDR35 57539 HP:0000268 Dolichocephaly ORPHANET:1515 WDR35 57539 HP:0001156 Brachydactyly syndrome ORPHANET:1515 WDR35 57539 HP:0011362 Abnormal hair quantity ORPHANET:1515 WDR35 57539 HP:0000601 Hypotelorism ORPHANET:1515 WDR35 57539 HP:0008388 Abnormality of the toenails ORPHANET:1515 WDR35 57539 HP:0009804 Reduced number of teeth ORPHANET:1515 WDR19 57728 HP:0000639 Nystagmus ORPHANET:1515 WDR19 57728 HP:0001363 Craniosynostosis ORPHANET:1515 WDR19 57728 HP:0000545 Myopia ORPHANET:1515 WDR19 57728 HP:0000232 Everted lower lip vermilion ORPHANET:1515 WDR19 57728 HP:0000774 Narrow chest ORPHANET:1515 WDR19 57728 HP:0000269 Prominent occiput ORPHANET:1515 WDR19 57728 HP:0009882 Short distal phalanx of finger ORPHANET:1515 WDR19 57728 HP:0000691 Microdontia ORPHANET:1515 WDR19 57728 HP:0001231 Abnormality of the fingernails ORPHANET:1515 WDR19 57728 HP:0009826 Limb undergrowth ORPHANET:1515 WDR19 57728 HP:0000286 Epicanthus ORPHANET:1515 WDR19 57728 HP:0000540 Hypermetropia ORPHANET:1515 WDR19 57728 HP:0006101 Finger syndactyly ORPHANET:1515 WDR19 57728 HP:0010299 Abnormality of dentin ORPHANET:1515 WDR19 57728 HP:0004349 Reduced bone mineral density ORPHANET:1515 WDR19 57728 HP:0002007 Frontal bossing ORPHANET:1515 WDR19 57728 HP:0000767 Pectus excavatum ORPHANET:1515 WDR19 57728 HP:0000463 Anteverted nares ORPHANET:1515 WDR19 57728 HP:0001382 Joint hypermobility ORPHANET:1515 WDR19 57728 HP:0004209 Clinodactyly of the 5th finger ORPHANET:1515 WDR19 57728 HP:0000940 Abnormal diaphysis morphology ORPHANET:1515 WDR19 57728 HP:0000679 Taurodontia ORPHANET:1515 WDR19 57728 HP:0000944 Abnormality of the metaphyses ORPHANET:1515 WDR19 57728 HP:0000268 Dolichocephaly ORPHANET:1515 WDR19 57728 HP:0001156 Brachydactyly syndrome ORPHANET:1515 WDR19 57728 HP:0011362 Abnormal hair quantity ORPHANET:1515 WDR19 57728 HP:0000601 Hypotelorism ORPHANET:1515 WDR19 57728 HP:0008388 Abnormality of the toenails ORPHANET:1515 WDR19 57728 HP:0009804 Reduced number of teeth ORPHANET:1515 IFT122 55764 HP:0000639 Nystagmus ORPHANET:1515 IFT122 55764 HP:0001363 Craniosynostosis ORPHANET:1515 IFT122 55764 HP:0000545 Myopia ORPHANET:1515 IFT122 55764 HP:0000232 Everted lower lip vermilion ORPHANET:1515 IFT122 55764 HP:0000774 Narrow chest ORPHANET:1515 IFT122 55764 HP:0000269 Prominent occiput ORPHANET:1515 IFT122 55764 HP:0009882 Short distal phalanx of finger ORPHANET:1515 IFT122 55764 HP:0000691 Microdontia ORPHANET:1515 IFT122 55764 HP:0001231 Abnormality of the fingernails ORPHANET:1515 IFT122 55764 HP:0009826 Limb undergrowth ORPHANET:1515 IFT122 55764 HP:0000286 Epicanthus ORPHANET:1515 IFT122 55764 HP:0000540 Hypermetropia ORPHANET:1515 IFT122 55764 HP:0006101 Finger syndactyly ORPHANET:1515 IFT122 55764 HP:0010299 Abnormality of dentin ORPHANET:1515 IFT122 55764 HP:0004349 Reduced bone mineral density ORPHANET:1515 IFT122 55764 HP:0002007 Frontal bossing ORPHANET:1515 IFT122 55764 HP:0000767 Pectus excavatum ORPHANET:1515 IFT122 55764 HP:0000463 Anteverted nares ORPHANET:1515 IFT122 55764 HP:0001382 Joint hypermobility ORPHANET:1515 IFT122 55764 HP:0004209 Clinodactyly of the 5th finger ORPHANET:1515 IFT122 55764 HP:0000940 Abnormal diaphysis morphology ORPHANET:1515 IFT122 55764 HP:0000679 Taurodontia ORPHANET:1515 IFT122 55764 HP:0000944 Abnormality of the metaphyses ORPHANET:1515 IFT122 55764 HP:0000268 Dolichocephaly ORPHANET:1515 IFT122 55764 HP:0001156 Brachydactyly syndrome ORPHANET:1515 IFT122 55764 HP:0011362 Abnormal hair quantity ORPHANET:1515 IFT122 55764 HP:0000601 Hypotelorism ORPHANET:1515 IFT122 55764 HP:0008388 Abnormality of the toenails ORPHANET:1515 IFT122 55764 HP:0009804 Reduced number of teeth ORPHANET:1515 IFT43 112752 HP:0000639 Nystagmus ORPHANET:1515 IFT43 112752 HP:0001363 Craniosynostosis ORPHANET:1515 IFT43 112752 HP:0000545 Myopia ORPHANET:1515 IFT43 112752 HP:0000232 Everted lower lip vermilion ORPHANET:1515 IFT43 112752 HP:0000774 Narrow chest ORPHANET:1515 IFT43 112752 HP:0000269 Prominent occiput ORPHANET:1515 IFT43 112752 HP:0009882 Short distal phalanx of finger ORPHANET:1515 IFT43 112752 HP:0000691 Microdontia ORPHANET:1515 IFT43 112752 HP:0001231 Abnormality of the fingernails ORPHANET:1515 IFT43 112752 HP:0009826 Limb undergrowth ORPHANET:1515 IFT43 112752 HP:0000286 Epicanthus ORPHANET:1515 IFT43 112752 HP:0000540 Hypermetropia ORPHANET:1515 IFT43 112752 HP:0006101 Finger syndactyly ORPHANET:1515 IFT43 112752 HP:0010299 Abnormality of dentin ORPHANET:1515 IFT43 112752 HP:0004349 Reduced bone mineral density ORPHANET:1515 IFT43 112752 HP:0002007 Frontal bossing ORPHANET:1515 IFT43 112752 HP:0000767 Pectus excavatum ORPHANET:1515 IFT43 112752 HP:0000463 Anteverted nares ORPHANET:1515 IFT43 112752 HP:0001382 Joint hypermobility ORPHANET:1515 IFT43 112752 HP:0004209 Clinodactyly of the 5th finger ORPHANET:1515 IFT43 112752 HP:0000940 Abnormal diaphysis morphology ORPHANET:1515 IFT43 112752 HP:0000679 Taurodontia ORPHANET:1515 IFT43 112752 HP:0000944 Abnormality of the metaphyses ORPHANET:1515 IFT43 112752 HP:0000268 Dolichocephaly ORPHANET:1515 IFT43 112752 HP:0001156 Brachydactyly syndrome ORPHANET:1515 IFT43 112752 HP:0011362 Abnormal hair quantity ORPHANET:1515 IFT43 112752 HP:0000601 Hypotelorism ORPHANET:1515 IFT43 112752 HP:0008388 Abnormality of the toenails ORPHANET:1515 IFT43 112752 HP:0009804 Reduced number of teeth OMIM:614870 PEX10 5192 HP:0002240 Hepatomegaly OMIM:614870 PEX10 5192 HP:0010655 Epiphyseal stippling OMIM:614870 PEX10 5192 HP:0001250 Seizures OMIM:614870 PEX10 5192 HP:0000007 Autosomal recessive inheritance OMIM:614870 PEX10 5192 HP:0001302 Pachygyria OMIM:614870 PEX10 5192 HP:0008872 Feeding difficulties in infancy OMIM:614870 PEX10 5192 HP:0011344 Severe global developmental delay OMIM:614870 PEX10 5192 HP:0008935 Generalized neonatal hypotonia OMIM:606867 GORASP1 64689 HP:0002716 Lymphadenopathy OMIM:606867 GORASP1 64689 HP:0001891 Iron deficiency anemia OMIM:606867 GORASP1 64689 HP:0001508 Failure to thrive OMIM:606867 GORASP1 64689 HP:0002028 Chronic diarrhea OMIM:606867 GORASP1 64689 HP:0001433 Hepatosplenomegaly OMIM:606867 GORASP1 64689 HP:0000230 Gingivitis OMIM:610024 PDE6H 5149 HP:0000613 Photophobia OMIM:610024 PDE6H 5149 HP:0000639 Nystagmus OMIM:610024 PDE6H 5149 HP:0000006 Autosomal dominant inheritance OMIM:610024 PDE6H 5149 HP:0000662 Night blindness OMIM:610024 PDE6H 5149 HP:0008020 Progressive cone degeneration OMIM:610024 PDE6H 5149 HP:0007641 Dyschromatopsia OMIM:610024 PDE6H 5149 HP:0007663 Decreased central vision OMIM:610024 PDE6H 5149 HP:0000007 Autosomal recessive inheritance OMIM:131440 PDGFRB 5159 HP:0005547 Myeloproliferative disorder OMIM:131440 PDGFRB 5159 HP:0000006 Autosomal dominant inheritance OMIM:131440 PDGFRB 5159 HP:0001880 Eosinophilia OMIM:131440 PDGFRB 5159 HP:0006782 Malignant eosinophil proliferation OMIM:189990 MYB 4602 HP:0000006 Autosomal dominant inheritance OMIM:189990 MYB 4602 HP:0006721 Acute lymphatic leukemia OMIM:189990 MYB 4602 HP:0001939 Abnormality of metabolism/homeostasis OMIM:613398 DDX11 1663 HP:0004691 2-3 toe syndactyly OMIM:613398 DDX11 1663 HP:0000274 Small face OMIM:613398 DDX11 1663 HP:0001636 Tetralogy of Fallot OMIM:613398 DDX11 1663 HP:0001263 Global developmental delay OMIM:613398 DDX11 1663 HP:0001249 Intellectual disability OMIM:613398 DDX11 1663 HP:0000378 Cupped ear OMIM:613398 DDX11 1663 HP:0001252 Muscular hypotonia OMIM:613398 DDX11 1663 HP:0000154 Wide mouth OMIM:613398 DDX11 1663 HP:0008586 Hypoplasia of the cochlea OMIM:613398 DDX11 1663 HP:0000286 Epicanthus OMIM:613398 DDX11 1663 HP:0000340 Sloping forehead OMIM:613398 DDX11 1663 HP:0000252 Microcephaly OMIM:613398 DDX11 1663 HP:0000965 Cutis marmorata OMIM:613398 DDX11 1663 HP:0000588 Optic nerve coloboma OMIM:613398 DDX11 1663 HP:0000954 Single transverse palmar crease OMIM:613398 DDX11 1663 HP:0000007 Autosomal recessive inheritance OMIM:613398 DDX11 1663 HP:0000218 High palate OMIM:613398 DDX11 1663 HP:0001629 Ventricular septal defect OMIM:613398 DDX11 1663 HP:0001511 Intrauterine growth retardation OMIM:613398 DDX11 1663 HP:0000365 Hearing impairment OMIM:613115 FAM134B 54463 HP:0001257 Spasticity OMIM:613115 FAM134B 54463 HP:0001069 Episodic hyperhidrosis OMIM:613115 FAM134B 54463 HP:0000020 Urinary incontinence OMIM:613115 FAM134B 54463 HP:0001284 Areflexia OMIM:613115 FAM134B 54463 HP:0001265 Hyporeflexia OMIM:613115 FAM134B 54463 HP:0003621 Juvenile onset OMIM:613115 FAM134B 54463 HP:0002754 Osteomyelitis OMIM:613115 FAM134B 54463 HP:0000007 Autosomal recessive inheritance OMIM:613115 FAM134B 54463 HP:0003676 Progressive disorder OMIM:613115 FAM134B 54463 HP:0006121 Acral ulceration leading to autoamputation of digits OMIM:613115 FAM134B 54463 HP:0009771 Osteolytic defects of the phalanges of the hand OMIM:613115 FAM134B 54463 HP:0003477 Peripheral axonal neuropathy OMIM:143880 CYP24A1 1591 HP:0002150 Hypercalciuria OMIM:143880 CYP24A1 1591 HP:0001254 Lethargy OMIM:143880 CYP24A1 1591 HP:0001252 Muscular hypotonia OMIM:143880 CYP24A1 1591 HP:0000478 Abnormality of the eye OMIM:143880 CYP24A1 1591 HP:0001650 Aortic valve stenosis OMIM:143880 CYP24A1 1591 HP:0001944 Dehydration OMIM:143880 CYP24A1 1591 HP:0001642 Pulmonic stenosis OMIM:143880 CYP24A1 1591 HP:0000179 Thick lower lip vermilion OMIM:143880 CYP24A1 1591 HP:0001824 Weight loss OMIM:143880 CYP24A1 1591 HP:0000787 Nephrolithiasis OMIM:143880 CYP24A1 1591 HP:0008250 Infantile hypercalcemia OMIM:143880 CYP24A1 1591 HP:0000006 Autosomal dominant inheritance OMIM:143880 CYP24A1 1591 HP:0000121 Nephrocalcinosis OMIM:143880 CYP24A1 1591 HP:0000007 Autosomal recessive inheritance OMIM:143880 CYP24A1 1591 HP:0001508 Failure to thrive OMIM:143880 CYP24A1 1591 HP:0002013 Vomiting OMIM:143880 CYP24A1 1591 HP:0001249 Intellectual disability OMIM:143880 CYP24A1 1591 HP:0000103 Polyuria OMIM:143880 CYP24A1 1591 HP:0004428 Elfin facies OMIM:616247 CALM1 801 HP:0001695 Cardiac arrest OMIM:152780 LHB 3972 HP:0008230 Decreased testosterone in males OMIM:152780 LHB 3972 HP:0000062 Ambiguous genitalia OMIM:152780 LHB 3972 HP:0003251 Male infertility OMIM:152780 LHB 3972 HP:0000006 Autosomal dominant inheritance OMIM:152780 LHB 3972 HP:0000026 Male hypogonadism OMIM:152780 LHB 3972 HP:0000037 Male pseudohermaphroditism OMIM:170400 CACNA1S 779 HP:0000006 Autosomal dominant inheritance OMIM:170400 CACNA1S 779 HP:0002900 Hypokalemia OMIM:170400 CACNA1S 779 HP:0003752 Episodic flaccid weakness OMIM:170400 CACNA1S 779 HP:0003829 Incomplete penetrance OMIM:170400 CACNA1S 779 HP:0007215 Periodic hyperkalemic paralysis OMIM:170400 CACNA1S 779 HP:0003198 Myopathy OMIM:601462 CHRNA1 1134 HP:0004889 Intermittent episodes of respiratory insufficiency due to muscle weakness OMIM:601462 CHRNA1 1134 HP:0000602 Ophthalmoplegia OMIM:601462 CHRNA1 1134 HP:0000006 Autosomal dominant inheritance OMIM:601462 CHRNA1 1134 HP:0000218 High palate OMIM:601462 CHRNA1 1134 HP:0003324 Generalized muscle weakness OMIM:601462 CHRNA1 1134 HP:0000007 Autosomal recessive inheritance OMIM:601462 CHRNA1 1134 HP:0003554 Type 2 muscle fiber atrophy OMIM:601462 CHRNA1 1134 HP:0002015 Dysphagia OMIM:601462 CHRNA1 1134 HP:0000508 Ptosis OMIM:601462 CHRNA1 1134 HP:0003473 Fatigable weakness OMIM:601462 CHRNA1 1134 HP:0003443 Decreased size of nerve terminals OMIM:601462 CHRNA1 1134 HP:0003436 Prolonged miniature endplate currents OMIM:601462 CHRNA1 1134 HP:0001260 Dysarthria OMIM:601462 CHRNA1 1134 HP:0003674 Onset OMIM:601462 CHRNA1 1134 HP:0011968 Feeding difficulties OMIM:225790 FLVCR2 55640 HP:0001939 Abnormality of metabolism/homeostasis OMIM:225790 FLVCR2 55640 HP:0001371 Flexion contracture OMIM:225790 FLVCR2 55640 HP:0000007 Autosomal recessive inheritance OMIM:225790 FLVCR2 55640 HP:0000238 Hydrocephalus OMIM:225790 FLVCR2 55640 HP:0000347 Micrognathia OMIM:225790 FLVCR2 55640 HP:0001305 Dandy-Walker malformation OMIM:225790 FLVCR2 55640 HP:0001511 Intrauterine growth retardation OMIM:225790 FLVCR2 55640 HP:0001321 Cerebellar hypoplasia OMIM:225790 FLVCR2 55640 HP:0001561 Polyhydramnios OMIM:225790 FLVCR2 55640 HP:0002324 Hydranencephaly OMIM:225790 FLVCR2 55640 HP:0001274 Agenesis of corpus callosum OMIM:225790 FLVCR2 55640 HP:0001622 Premature birth OMIM:225790 FLVCR2 55640 HP:0002365 Hypoplasia of the brainstem OMIM:105650 RPS19 6223 HP:0008437 Bifid thoracic vertebrae OMIM:105650 RPS19 6223 HP:0003593 Infantile onset OMIM:105650 RPS19 6223 HP:0000946 Hypoplastic ilia OMIM:105650 RPS19 6223 HP:0001622 Premature birth OMIM:105650 RPS19 6223 HP:0000006 Autosomal dominant inheritance OMIM:105650 RPS19 6223 HP:0001511 Intrauterine growth retardation OMIM:105650 RPS19 6223 HP:0002863 Myelodysplasia OMIM:105650 RPS19 6223 HP:0001680 Coarctation of aorta OMIM:105650 RPS19 6223 HP:0000486 Strabismus OMIM:105650 RPS19 6223 HP:0002669 Osteosarcoma OMIM:105650 RPS19 6223 HP:0002984 Hypoplasia of the radius OMIM:105650 RPS19 6223 HP:0009777 Absent thumb OMIM:105650 RPS19 6223 HP:0000347 Micrognathia OMIM:105650 RPS19 6223 HP:0030270 Elevated red cell adenosine deaminase activity OMIM:105650 RPS19 6223 HP:0000878 11 pairs of ribs OMIM:105650 RPS19 6223 HP:0001873 Thrombocytopenia OMIM:105650 RPS19 6223 HP:0001875 Neutropenia OMIM:105650 RPS19 6223 HP:0001508 Failure to thrive OMIM:105650 RPS19 6223 HP:0000218 High palate OMIM:105650 RPS19 6223 HP:0000175 Cleft palate OMIM:105650 RPS19 6223 HP:0001199 Triphalangeal thumb OMIM:105650 RPS19 6223 HP:0001635 Congestive heart failure OMIM:105650 RPS19 6223 HP:0001249 Intellectual disability OMIM:105650 RPS19 6223 HP:0000494 Downslanted palpebral fissures OMIM:105650 RPS19 6223 HP:0000204 Cleft upper lip OMIM:105650 RPS19 6223 HP:0004810 Congenital hypoplastic anemia OMIM:105650 RPS19 6223 HP:0001894 Thrombocytosis OMIM:105650 RPS19 6223 HP:0000278 Retrognathia OMIM:105650 RPS19 6223 HP:0000270 Delayed cranial suture closure OMIM:105650 RPS19 6223 HP:0000465 Webbed neck OMIM:105650 RPS19 6223 HP:0000316 Hypertelorism OMIM:105650 RPS19 6223 HP:0003003 Colon cancer OMIM:105650 RPS19 6223 HP:0001631 Defect in the atrial septum OMIM:105650 RPS19 6223 HP:0004322 Short stature OMIM:105650 RPS19 6223 HP:0000252 Microcephaly OMIM:105650 RPS19 6223 HP:0000774 Narrow chest OMIM:105650 RPS19 6223 HP:0009778 Short thumb OMIM:105650 RPS19 6223 HP:0008475 Hypoplastic sacral vertebrae OMIM:105650 RPS19 6223 HP:0001896 Reticulocytopenia OMIM:105650 RPS19 6223 HP:0002697 Parietal foramina OMIM:105650 RPS19 6223 HP:0000457 Depressed nasal ridge OMIM:105650 RPS19 6223 HP:0000470 Short neck OMIM:105650 RPS19 6223 HP:0000980 Pallor OMIM:105650 RPS19 6223 HP:0009944 Partial duplication of thumb phalanx OMIM:105650 RPS19 6223 HP:0008447 Hypoplastic coccygeal vertebrae OMIM:105650 RPS19 6223 HP:0001629 Ventricular septal defect OMIM:210200 MCCC1 56922 HP:0001249 Intellectual disability OMIM:210200 MCCC1 56922 HP:0002179 Opisthotonus OMIM:210200 MCCC1 56922 HP:0001252 Muscular hypotonia OMIM:210200 MCCC1 56922 HP:0006573 Acute hepatic steatosis OMIM:210200 MCCC1 56922 HP:0000007 Autosomal recessive inheritance OMIM:210200 MCCC1 56922 HP:0008872 Feeding difficulties in infancy OMIM:210200 MCCC1 56922 HP:0003812 Phenotypic variability OMIM:210200 MCCC1 56922 HP:0008281 Acute hyperammonemia OMIM:210200 MCCC1 56922 HP:0001263 Global developmental delay OMIM:210200 MCCC1 56922 HP:0001259 Coma OMIM:210200 MCCC1 56922 HP:0001254 Lethargy OMIM:210200 MCCC1 56922 HP:0001508 Failure to thrive OMIM:210200 MCCC1 56922 HP:0004911 Episodic metabolic acidosis OMIM:210200 MCCC1 56922 HP:0002919 Ketonuria OMIM:210200 MCCC1 56922 HP:0001943 Hypoglycemia OMIM:210200 MCCC1 56922 HP:0001250 Seizures OMIM:210200 MCCC1 56922 HP:0002013 Vomiting OMIM:210200 MCCC1 56922 HP:0001347 Hyperreflexia OMIM:615751 CA5A 763 HP:0003128 Lactic acidosis OMIM:615751 CA5A 763 HP:0001943 Hypoglycemia OMIM:615751 CA5A 763 HP:0001254 Lethargy OMIM:615751 CA5A 763 HP:0003348 Hyperalaninemia OMIM:615751 CA5A 763 HP:0001987 Hyperammonemia OMIM:615751 CA5A 763 HP:0001942 Metabolic acidosis OMIM:615751 CA5A 763 HP:0002789 Tachypnea OMIM:615751 CA5A 763 HP:0002151 Increased serum lactate OMIM:615751 CA5A 763 HP:0001993 Ketoacidosis OMIM:615751 CA5A 763 HP:0001950 Respiratory alkalosis OMIM:612690 EPB42 2038 HP:0001878 Hemolytic anemia OMIM:612690 EPB42 2038 HP:0000007 Autosomal recessive inheritance OMIM:612690 EPB42 2038 HP:0004444 Spherocytosis OMIM:605027 RAD54B 25788 HP:0002665 Lymphoma OMIM:605027 CASP10 843 HP:0002665 Lymphoma OMIM:605027 RAD54L 8438 HP:0002665 Lymphoma OMIM:605027 PRF1 5551 HP:0002665 Lymphoma OMIM:118450 JAG1 182 HP:0003022 Hypoplasia of the ulna OMIM:118450 JAG1 182 HP:0001284 Areflexia OMIM:118450 JAG1 182 HP:0000486 Strabismus OMIM:118450 JAG1 182 HP:0000545 Myopia OMIM:118450 JAG1 182 HP:0002155 Hypertriglyceridemia OMIM:118450 JAG1 182 HP:0001508 Failure to thrive OMIM:118450 JAG1 182 HP:0000627 Posterior embryotoxon OMIM:118450 JAG1 182 HP:0000337 Broad forehead OMIM:118450 JAG1 182 HP:0005280 Depressed nasal bridge OMIM:118450 JAG1 182 HP:0006579 Prolonged neonatal jaundice OMIM:118450 JAG1 182 HP:0000518 Cataract OMIM:118450 JAG1 182 HP:0001947 Renal tubular acidosis OMIM:118450 JAG1 182 HP:0004969 Peripheral pulmonary artery stenosis OMIM:118450 JAG1 182 HP:0000316 Hypertelorism OMIM:118450 JAG1 182 HP:0000533 Chorioretinal atrophy OMIM:118450 JAG1 182 HP:0000006 Autosomal dominant inheritance OMIM:118450 JAG1 182 HP:0001631 Defect in the atrial septum OMIM:118450 JAG1 182 HP:0002937 Hemivertebrae OMIM:118450 JAG1 182 HP:0009882 Short distal phalanx of finger OMIM:118450 JAG1 182 HP:0001738 Exocrine pancreatic insufficiency OMIM:118450 JAG1 182 HP:0000110 Renal dysplasia OMIM:118450 JAG1 182 HP:0001636 Tetralogy of Fallot OMIM:118450 JAG1 182 HP:0003124 Hypercholesterolemia OMIM:118450 JAG1 182 HP:0000400 Macrotia OMIM:118450 JAG1 182 HP:0002910 Elevated hepatic transaminases OMIM:118450 JAG1 182 HP:0003829 Incomplete penetrance OMIM:118450 JAG1 182 HP:0000325 Triangular face OMIM:118450 JAG1 182 HP:0001328 Specific learning disability OMIM:118450 JAG1 182 HP:0003593 Infantile onset OMIM:118450 JAG1 182 HP:0001297 Stroke OMIM:118450 JAG1 182 HP:0000772 Abnormality of the ribs OMIM:118450 JAG1 182 HP:0001629 Ventricular septal defect OMIM:118450 JAG1 182 HP:0001394 Cirrhosis OMIM:118450 JAG1 182 HP:0006571 Reduced number of intrahepatic bile ducts OMIM:118450 JAG1 182 HP:0001680 Coarctation of aorta OMIM:118450 JAG1 182 HP:0004617 Butterfly vertebral arch OMIM:118450 JAG1 182 HP:0000089 Renal hypoplasia OMIM:118450 JAG1 182 HP:0002895 Papillary thyroid carcinoma OMIM:118450 JAG1 182 HP:0001256 Intellectual disability, mild OMIM:118450 JAG1 182 HP:0000482 Microcornea OMIM:118450 JAG1 182 HP:0007702 Pigmentary retinal deposits OMIM:118450 JAG1 182 HP:0001402 Hepatocellular carcinoma OMIM:118450 JAG1 182 HP:0003189 Long nose OMIM:118450 JAG1 182 HP:0001492 Axenfeld anomaly OMIM:118450 JAG1 182 HP:0000076 Vesicoureteral reflux OMIM:118450 JAG1 182 HP:0000582 Upslanted palpebral fissure OMIM:118450 JAG1 182 HP:0000585 Band keratopathy OMIM:118450 JAG1 182 HP:0000490 Deeply set eye OMIM:118450 JAG1 182 HP:0008659 Multiple small medullary renal cysts OMIM:615546 FAT4 79633 HP:0001249 Intellectual disability OMIM:615546 FAT4 79633 HP:0003577 Congenital onset OMIM:615546 FAT4 79633 HP:0000047 Hypospadias OMIM:615546 FAT4 79633 HP:0000689 Dental malocclusion OMIM:615546 FAT4 79633 HP:0002079 Hypoplasia of the corpus callosum OMIM:615546 FAT4 79633 HP:0002652 Skeletal dysplasia OMIM:615546 FAT4 79633 HP:0000938 Osteopenia OMIM:615546 FAT4 79633 HP:0000347 Micrognathia OMIM:615546 FAT4 79633 HP:0000413 Atresia of the external auditory canal OMIM:615546 FAT4 79633 HP:0000054 Micropenis OMIM:615546 FAT4 79633 HP:0011968 Feeding difficulties OMIM:615546 FAT4 79633 HP:0000007 Autosomal recessive inheritance OMIM:615546 FAT4 79633 HP:0001252 Muscular hypotonia OMIM:615546 FAT4 79633 HP:0000581 Blepharophimosis OMIM:615546 FAT4 79633 HP:0010537 Wide cranial sutures OMIM:615546 FAT4 79633 HP:0004689 Short fourth metatarsal OMIM:615546 FAT4 79633 HP:0000286 Epicanthus OMIM:615546 FAT4 79633 HP:0000089 Renal hypoplasia OMIM:615546 FAT4 79633 HP:0010804 Tented upper lip vermilion OMIM:615546 FAT4 79633 HP:0000272 Malar flattening OMIM:615546 FAT4 79633 HP:0001510 Growth delay OMIM:615546 FAT4 79633 HP:0000405 Conductive hearing impairment OMIM:615546 FAT4 79633 HP:0008551 Microtia OMIM:615546 FAT4 79633 HP:0000407 Sensorineural hearing impairment OMIM:615546 FAT4 79633 HP:0000260 Wide anterior fontanel OMIM:615546 FAT4 79633 HP:0030084 Clinodactyly OMIM:615546 FAT4 79633 HP:0000316 Hypertelorism OMIM:615546 FAT4 79633 HP:0010044 Short 4th metacarpal OMIM:615546 FAT4 79633 HP:0001388 Joint laxity OMIM:615546 FAT4 79633 HP:0000028 Cryptorchidism OMIM:615546 FAT4 79633 HP:0012745 Short palpebral fissure OMIM:615546 FAT4 79633 HP:0040079 Irregular dentition OMIM:615546 FAT4 79633 HP:0002650 Scoliosis OMIM:615546 FAT4 79633 HP:0000774 Narrow chest OMIM:615546 FAT4 79633 HP:0010554 Cutaneous finger syndactyly OMIM:615546 FAT4 79633 HP:0002714 Downturned corners of mouth OMIM:615546 FAT4 79633 HP:0000960 Sacral dimple OMIM:615546 FAT4 79633 HP:0000894 Short clavicles OMIM:615546 FAT4 79633 HP:0000048 Bifid scrotum OMIM:615546 FAT4 79633 HP:0000327 Hypoplasia of the maxilla OMIM:615546 FAT4 79633 HP:0001762 Talipes equinovarus OMIM:615546 FAT4 79633 HP:0000218 High palate OMIM:615546 FAT4 79633 HP:0000431 Wide nasal bridge OMIM:615546 FAT4 79633 HP:0000508 Ptosis OMIM:615546 FAT4 79633 HP:0000341 Narrow forehead OMIM:136630 DIP2B 57609 HP:0001249 Intellectual disability OMIM:614076 DTNBP1 84062 HP:0001107 Ocular albinism OMIM:614076 DTNBP1 84062 HP:0000007 Autosomal recessive inheritance OMIM:614076 DTNBP1 84062 HP:0000978 Bruising susceptibility OMIM:614076 DTNBP1 84062 HP:0001022 Albinism OMIM:614076 DTNBP1 84062 HP:0000421 Epistaxis OMIM:614076 DTNBP1 84062 HP:0003540 Impaired platelet aggregation OMIM:614076 DTNBP1 84062 HP:0000505 Visual impairment OMIM:614076 DTNBP1 84062 HP:0000639 Nystagmus ORPHANET:2021 COL11A2 1302 HP:0002983 Micromelia ORPHANET:2021 COL11A2 1302 HP:0000175 Cleft palate ORPHANET:2021 COL11A2 1302 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:2021 COL11A2 1302 HP:0000316 Hypertelorism ORPHANET:2021 COL11A2 1302 HP:0001798 Anonychia ORPHANET:2021 COL11A2 1302 HP:0000772 Abnormality of the ribs ORPHANET:2021 COL11A2 1302 HP:0000494 Downslanted palpebral fissures ORPHANET:2021 COL11A2 1302 HP:0004322 Short stature ORPHANET:2021 COL11A2 1302 HP:0005280 Depressed nasal bridge ORPHANET:2021 COL11A2 1302 HP:0000160 Narrow mouth ORPHANET:2021 COL11A2 1302 HP:0000940 Abnormal diaphysis morphology ORPHANET:2021 COL11A2 1302 HP:0000470 Short neck ORPHANET:2021 COL11A2 1302 HP:0000311 Round face ORPHANET:2021 COL11A2 1302 HP:0000364 Hearing abnormality ORPHANET:2021 COL11A2 1302 HP:0000463 Anteverted nares ORPHANET:2021 COL11A2 1302 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:2021 COL11A2 1302 HP:0000520 Proptosis ORPHANET:2021 COL11A2 1302 HP:0001539 Omphalocele ORPHANET:2021 COL11A2 1302 HP:0100490 Camptodactyly of finger ORPHANET:2021 COL11A2 1302 HP:0001156 Brachydactyly syndrome ORPHANET:2021 COL11A2 1302 HP:0000912 Sprengel anomaly ORPHANET:2021 COL11A2 1302 HP:0002093 Respiratory insufficiency ORPHANET:2021 COL11A2 1302 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2021 COL11A2 1302 HP:0000774 Narrow chest ORPHANET:2021 COL11A2 1302 HP:0001357 Plagiocephaly ORPHANET:2021 COL11A2 1302 HP:0100625 Enlarged thorax ORPHANET:2021 COL11A2 1302 HP:0000944 Abnormality of the metaphyses ORPHANET:2021 COL11A1 1301 HP:0002983 Micromelia ORPHANET:2021 COL11A1 1301 HP:0000175 Cleft palate ORPHANET:2021 COL11A1 1301 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:2021 COL11A1 1301 HP:0000316 Hypertelorism ORPHANET:2021 COL11A1 1301 HP:0001798 Anonychia ORPHANET:2021 COL11A1 1301 HP:0000772 Abnormality of the ribs ORPHANET:2021 COL11A1 1301 HP:0000494 Downslanted palpebral fissures ORPHANET:2021 COL11A1 1301 HP:0004322 Short stature ORPHANET:2021 COL11A1 1301 HP:0005280 Depressed nasal bridge ORPHANET:2021 COL11A1 1301 HP:0000160 Narrow mouth ORPHANET:2021 COL11A1 1301 HP:0000940 Abnormal diaphysis morphology ORPHANET:2021 COL11A1 1301 HP:0000470 Short neck ORPHANET:2021 COL11A1 1301 HP:0000311 Round face ORPHANET:2021 COL11A1 1301 HP:0000364 Hearing abnormality ORPHANET:2021 COL11A1 1301 HP:0000463 Anteverted nares ORPHANET:2021 COL11A1 1301 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:2021 COL11A1 1301 HP:0000520 Proptosis ORPHANET:2021 COL11A1 1301 HP:0001539 Omphalocele ORPHANET:2021 COL11A1 1301 HP:0100490 Camptodactyly of finger ORPHANET:2021 COL11A1 1301 HP:0001156 Brachydactyly syndrome ORPHANET:2021 COL11A1 1301 HP:0000912 Sprengel anomaly ORPHANET:2021 COL11A1 1301 HP:0002093 Respiratory insufficiency ORPHANET:2021 COL11A1 1301 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2021 COL11A1 1301 HP:0000774 Narrow chest ORPHANET:2021 COL11A1 1301 HP:0001357 Plagiocephaly ORPHANET:2021 COL11A1 1301 HP:0100625 Enlarged thorax ORPHANET:2021 COL11A1 1301 HP:0000944 Abnormality of the metaphyses OMIM:278750 POLH 5429 HP:0002860 Squamous cell carcinoma OMIM:278750 POLH 5429 HP:0004334 Dermal atrophy OMIM:278750 POLH 5429 HP:0000656 Ectropion OMIM:278750 POLH 5429 HP:0002671 Basal cell carcinoma OMIM:278750 POLH 5429 HP:0000007 Autosomal recessive inheritance OMIM:278750 POLH 5429 HP:0000491 Keratitis OMIM:278750 POLH 5429 HP:0001029 Poikiloderma OMIM:278750 POLH 5429 HP:0000992 Cutaneous photosensitivity OMIM:278750 POLH 5429 HP:0012056 Cutaneous melanoma OMIM:278750 POLH 5429 HP:0100585 Teleangiectasia of the skin OMIM:278750 POLH 5429 HP:0000621 Entropion OMIM:278750 POLH 5429 HP:0001480 Freckling OMIM:278750 POLH 5429 HP:0000613 Photophobia OMIM:278750 POLH 5429 HP:0200043 Verrucae OMIM:278750 POLH 5429 HP:0000509 Conjunctivitis OMIM:278750 POLH 5429 HP:0000958 Dry skin OMIM:300582 SHOX 6473 HP:0001417 X-linked inheritance OMIM:300582 SHOX 6473 HP:0004322 Short stature OMIM:602078 PHOX2A 401 HP:0000646 Amblyopia OMIM:602078 PHOX2A 401 HP:0000577 Exotropia OMIM:602078 PHOX2A 401 HP:0007936 Restrictive external ophthalmoplegia OMIM:602078 PHOX2A 401 HP:0001488 Bilateral ptosis OMIM:602078 PHOX2A 401 HP:0000007 Autosomal recessive inheritance OMIM:602078 PHOX2A 401 HP:0001491 Congenital fibrosis of extraocular muscles OMIM:602078 PHOX2A 401 HP:0000505 Visual impairment OMIM:614335 MYBPC1 4604 HP:0001762 Talipes equinovarus OMIM:614335 MYBPC1 4604 HP:0001838 Rocker bottom foot OMIM:614335 MYBPC1 4604 HP:0002804 Arthrogryposis multiplex congenita OMIM:614335 MYBPC1 4604 HP:0009473 Joint contracture of the hand OMIM:614335 MYBPC1 4604 HP:0008366 Contractures involving the joints of the feet OMIM:614335 MYBPC1 4604 HP:0005684 Distal arthrogryposis OMIM:613286 TNNI3 7137 HP:0001644 Dilated cardiomyopathy OMIM:600955 PCSK1 5122 HP:0002014 Diarrhea OMIM:600955 PCSK1 5122 HP:0001513 Obesity OMIM:600955 PCSK1 5122 HP:0000044 Hypogonadotrophic hypogonadism OMIM:600955 PCSK1 5122 HP:0003745 Sporadic OMIM:600955 PCSK1 5122 HP:0003812 Phenotypic variability OMIM:600955 PCSK1 5122 HP:0012051 Reactive hypoglycemia OMIM:600955 PCSK1 5122 HP:0000786 Primary amenorrhea OMIM:600955 PCSK1 5122 HP:0011473 Villous atrophy OMIM:600955 PCSK1 5122 HP:0002024 Malabsorption OMIM:600955 PCSK1 5122 HP:0008220 Hypocortisolemia ORPHANET:614 CLCN1 1180 HP:0003457 EMG abnormality ORPHANET:614 CLCN1 1180 HP:0002486 Myotonia OMIM:607932 BMP4 652 HP:0000821 Hypothyroidism OMIM:607932 BMP4 652 HP:0004209 Clinodactyly of the 5th finger OMIM:607932 BMP4 652 HP:0000556 Retinal dystrophy OMIM:607932 BMP4 652 HP:0004443 Lambdoidal craniosynostosis OMIM:607932 BMP4 652 HP:0000134 Female hypogonadism OMIM:607932 BMP4 652 HP:0000482 Microcornea OMIM:607932 BMP4 652 HP:0000089 Renal hypoplasia OMIM:607932 BMP4 652 HP:0011800 Midface retrusion OMIM:607932 BMP4 652 HP:0001231 Abnormality of the fingernails OMIM:607932 BMP4 652 HP:0000278 Retrognathia OMIM:607932 BMP4 652 HP:0000048 Bifid scrotum OMIM:607932 BMP4 652 HP:0000028 Cryptorchidism OMIM:607932 BMP4 652 HP:0006101 Finger syndactyly OMIM:607932 BMP4 652 HP:0001344 Absent speech OMIM:607932 BMP4 652 HP:0003319 Abnormality of the cervical spine OMIM:607932 BMP4 652 HP:0010999 Aplasia of the optic tract OMIM:607932 BMP4 652 HP:0000954 Single transverse palmar crease OMIM:607932 BMP4 652 HP:0001770 Toe syndactyly OMIM:607932 BMP4 652 HP:0000369 Low-set ears OMIM:607932 BMP4 652 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:607932 BMP4 652 HP:0000054 Micropenis OMIM:607932 BMP4 652 HP:0000407 Sensorineural hearing impairment OMIM:607932 BMP4 652 HP:0000528 Anophthalmia OMIM:607932 BMP4 652 HP:0000518 Cataract OMIM:607932 BMP4 652 HP:0000612 Iris coloboma OMIM:607932 BMP4 652 HP:0001250 Seizures OMIM:607932 BMP4 652 HP:0000639 Nystagmus OMIM:607932 BMP4 652 HP:0001830 Postaxial foot polydactyly OMIM:607932 BMP4 652 HP:0000835 Adrenal hypoplasia OMIM:607932 BMP4 652 HP:0009623 Proximal placement of thumb OMIM:607932 BMP4 652 HP:0000347 Micrognathia OMIM:607932 BMP4 652 HP:0000047 Hypospadias OMIM:607932 BMP4 652 HP:0000358 Posteriorly rotated ears OMIM:607932 BMP4 652 HP:0000006 Autosomal dominant inheritance OMIM:607932 BMP4 652 HP:0000568 Microphthalmos OMIM:607932 BMP4 652 HP:0000830 Anterior hypopituitarism OMIM:607932 BMP4 652 HP:0001321 Cerebellar hypoplasia OMIM:607932 BMP4 652 HP:0001156 Brachydactyly syndrome OMIM:607932 BMP4 652 HP:0000175 Cleft palate OMIM:607932 BMP4 652 HP:0000545 Myopia OMIM:607932 BMP4 652 HP:0001263 Global developmental delay OMIM:607932 BMP4 652 HP:0000400 Macrotia OMIM:607932 BMP4 652 HP:0000248 Brachycephaly OMIM:607932 BMP4 652 HP:0000864 Abnormality of the hypothalamus-pituitary axis OMIM:607932 BMP4 652 HP:0010538 Small sella turcica OMIM:607932 BMP4 652 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:607932 BMP4 652 HP:0007068 Inferior vermis hypoplasia OMIM:607932 BMP4 652 HP:0000272 Malar flattening OMIM:607932 BMP4 652 HP:0000411 Protruding ear OMIM:607932 BMP4 652 HP:0006829 Severe muscular hypotonia OMIM:607932 BMP4 652 HP:0002188 Delayed CNS myelination OMIM:607932 BMP4 652 HP:0001177 Preaxial hand polydactyly OMIM:607932 BMP4 652 HP:0000348 High forehead OMIM:607932 BMP4 652 HP:0000171 Microglossia OMIM:607932 BMP4 652 HP:0000218 High palate OMIM:607932 BMP4 652 HP:0100543 Cognitive impairment OMIM:607932 BMP4 652 HP:0000647 Sclerocornea OMIM:607932 BMP4 652 HP:0009909 Uplifted earlobe OMIM:607932 BMP4 652 HP:0001144 Orbital cyst OMIM:607932 BMP4 652 HP:0005819 Short middle phalanx of finger OMIM:607932 BMP4 652 HP:0000193 Bifid uvula OMIM:607932 BMP4 652 HP:0001357 Plagiocephaly OMIM:607932 BMP4 652 HP:0000324 Facial asymmetry OMIM:607932 BMP4 652 HP:0000252 Microcephaly OMIM:607932 BMP4 652 HP:0009600 Flexion contracture of thumb OMIM:607932 BMP4 652 HP:0008050 Abnormality of the palpebral fissures OMIM:607932 BMP4 652 HP:0001252 Muscular hypotonia OMIM:607932 BMP4 652 HP:0002120 Cerebral cortical atrophy OMIM:607932 BMP4 652 HP:0000618 Blindness OMIM:607932 BMP4 652 HP:0000589 Coloboma OMIM:607932 BMP4 652 HP:0030276 Small scrotum OMIM:607932 BMP4 652 HP:0000567 Chorioretinal coloboma OMIM:607932 BMP4 652 HP:0001508 Failure to thrive OMIM:607932 BMP4 652 HP:0000365 Hearing impairment OMIM:607932 BMP4 652 HP:0002119 Ventriculomegaly OMIM:607932 BMP4 652 HP:0000174 Abnormality of the palate OMIM:607932 BMP4 652 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:613957 NR5A1 2516 HP:0000027 Azoospermia OMIM:613957 NR5A1 2516 HP:0000007 Autosomal recessive inheritance OMIM:242500 ABCA12 26154 HP:0000520 Proptosis OMIM:242500 ABCA12 26154 HP:0001645 Sudden cardiac death OMIM:242500 ABCA12 26154 HP:0001376 Limitation of joint mobility OMIM:242500 ABCA12 26154 HP:0000656 Ectropion OMIM:242500 ABCA12 26154 HP:0001161 Hand polydactyly OMIM:242500 ABCA12 26154 HP:0000457 Depressed nasal ridge OMIM:242500 ABCA12 26154 HP:0000007 Autosomal recessive inheritance OMIM:242500 ABCA12 26154 HP:0007431 Congenital ichthyosiform erythroderma OMIM:242500 ABCA12 26154 HP:0000364 Hearing abnormality OMIM:242500 ABCA12 26154 HP:0000518 Cataract OMIM:242500 ABCA12 26154 HP:0009381 Short finger OMIM:242500 ABCA12 26154 HP:0002063 Rigidity OMIM:242500 ABCA12 26154 HP:0001622 Premature birth OMIM:242500 ABCA12 26154 HP:0100716 Self-injurious behavior OMIM:242500 ABCA12 26154 HP:0000492 Abnormality of the eyelid OMIM:242500 ABCA12 26154 HP:0002093 Respiratory insufficiency OMIM:242500 ABCA12 26154 HP:0001944 Dehydration OMIM:242500 ABCA12 26154 HP:0000232 Everted lower lip vermilion OMIM:242500 ABCA12 26154 HP:0002205 Recurrent respiratory infections OMIM:242500 ABCA12 26154 HP:0000962 Hyperkeratosis OMIM:242500 ABCA12 26154 HP:0002047 Malignant hyperthermia OMIM:242500 ABCA12 26154 HP:0001829 Foot polydactyly OMIM:242500 ABCA12 26154 HP:0000153 Abnormality of the mouth OMIM:607721 SHOC2 8036 HP:0000179 Thick lower lip vermilion OMIM:607721 SHOC2 8036 HP:0000465 Webbed neck OMIM:607721 SHOC2 8036 HP:0000400 Macrotia OMIM:607721 SHOC2 8036 HP:0000470 Short neck OMIM:607721 SHOC2 8036 HP:0000316 Hypertelorism OMIM:607721 SHOC2 8036 HP:0002162 Low posterior hairline OMIM:607721 SHOC2 8036 HP:0001629 Ventricular septal defect OMIM:607721 SHOC2 8036 HP:0001156 Brachydactyly syndrome OMIM:607721 SHOC2 8036 HP:0001639 Hypertrophic cardiomyopathy OMIM:607721 SHOC2 8036 HP:0000752 Hyperactivity OMIM:607721 SHOC2 8036 HP:0011220 Prominent forehead OMIM:607721 SHOC2 8036 HP:0000358 Posteriorly rotated ears OMIM:607721 SHOC2 8036 HP:0001642 Pulmonic stenosis OMIM:607721 SHOC2 8036 HP:0000233 Thin vermilion border OMIM:607721 SHOC2 8036 HP:0001800 Hypoplastic toenails OMIM:607721 SHOC2 8036 HP:0004322 Short stature OMIM:607721 SHOC2 8036 HP:0008064 Ichthyosis OMIM:607721 SHOC2 8036 HP:0000767 Pectus excavatum OMIM:607721 SHOC2 8036 HP:0001631 Defect in the atrial septum OMIM:607721 SHOC2 8036 HP:0000256 Macrocephaly OMIM:607721 SHOC2 8036 HP:0000286 Epicanthus OMIM:607721 SHOC2 8036 HP:0001249 Intellectual disability OMIM:607721 SHOC2 8036 HP:0000174 Abnormality of the palate OMIM:607721 SHOC2 8036 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:607721 SHOC2 8036 HP:0000670 Carious teeth OMIM:607721 SHOC2 8036 HP:0004414 Abnormality of the pulmonary artery OMIM:607721 SHOC2 8036 HP:0003196 Short nose OMIM:607721 SHOC2 8036 HP:0000486 Strabismus OMIM:607721 SHOC2 8036 HP:0000369 Low-set ears OMIM:607721 SHOC2 8036 HP:0001611 Nasal speech OMIM:607721 SHOC2 8036 HP:0011362 Abnormal hair quantity OMIM:607721 SHOC2 8036 HP:0000368 Low-set, posteriorly rotated ears OMIM:607721 SHOC2 8036 HP:0002002 Deep philtrum OMIM:607721 SHOC2 8036 HP:0100543 Cognitive impairment OMIM:607721 SHOC2 8036 HP:0000964 Eczema OMIM:607721 SHOC2 8036 HP:0001231 Abnormality of the fingernails OMIM:607721 SHOC2 8036 HP:0002750 Delayed skeletal maturation OMIM:607721 SHOC2 8036 HP:0000463 Anteverted nares OMIM:607721 SHOC2 8036 HP:0000028 Cryptorchidism OMIM:607721 SHOC2 8036 HP:0000238 Hydrocephalus OMIM:607721 SHOC2 8036 HP:0009811 Abnormality of the elbow OMIM:607721 SHOC2 8036 HP:0002209 Sparse scalp hair OMIM:607721 SHOC2 8036 HP:0000006 Autosomal dominant inheritance OMIM:607721 SHOC2 8036 HP:0000365 Hearing impairment OMIM:607721 SHOC2 8036 HP:0005108 Abnormality of the intervertebral disk OMIM:612284 CC2D2A 57545 HP:0000175 Cleft palate OMIM:612284 CC2D2A 57545 HP:0001161 Hand polydactyly OMIM:612284 CC2D2A 57545 HP:0001762 Talipes equinovarus OMIM:612284 CC2D2A 57545 HP:0000107 Renal cyst OMIM:612284 CC2D2A 57545 HP:0000812 Abnormal internal genitalia OMIM:612284 CC2D2A 57545 HP:0006706 Cystic liver disease OMIM:612284 CC2D2A 57545 HP:0002323 Anencephaly OMIM:612284 CC2D2A 57545 HP:0002085 Occipital encephalocele OMIM:612284 CC2D2A 57545 HP:0000204 Cleft upper lip OMIM:607778 IHH 3549 HP:0002983 Micromelia OMIM:607778 IHH 3549 HP:0000007 Autosomal recessive inheritance OMIM:607778 IHH 3549 HP:0004322 Short stature OMIM:607778 IHH 3549 HP:0000773 Short ribs OMIM:607778 IHH 3549 HP:0002938 Lumbar hyperlordosis OMIM:607778 IHH 3549 HP:0004482 Relative macrocephaly OMIM:607778 IHH 3549 HP:0004279 Short palm OMIM:607778 IHH 3549 HP:0008873 Disproportionate short-limb short stature OMIM:607778 IHH 3549 HP:0000767 Pectus excavatum OMIM:607778 IHH 3549 HP:0001156 Brachydactyly syndrome OMIM:607778 IHH 3549 HP:0003272 Abnormality of the hip bone OMIM:607778 IHH 3549 HP:0002812 Coxa vara OMIM:607778 IHH 3549 HP:0001216 Delayed ossification of carpal bones OMIM:607778 IHH 3549 HP:0010579 Cone-shaped epiphysis OMIM:607778 IHH 3549 HP:0010049 Short metacarpal OMIM:607778 IHH 3549 HP:0006438 Enlargement of the distal femoral epiphysis OMIM:607778 IHH 3549 HP:0003498 Disproportionate short stature OMIM:607778 IHH 3549 HP:0005792 Short humerus OMIM:607778 IHH 3549 HP:0000774 Narrow chest OMIM:607778 IHH 3549 HP:0003022 Hypoplasia of the ulna OMIM:607778 IHH 3549 HP:0000768 Pectus carinatum OMIM:607778 IHH 3549 HP:0001821 Broad nail OMIM:607778 IHH 3549 HP:0009638 Short proximal phalanx of thumb OMIM:607778 IHH 3549 HP:0001798 Anonychia OMIM:607778 IHH 3549 HP:0010575 Dysplasia of the femoral head OMIM:607778 IHH 3549 HP:0002650 Scoliosis OMIM:607778 IHH 3549 HP:0005736 Short tibia OMIM:607778 IHH 3549 HP:0010017 Cone-shaped epiphysis of the 1st metacarpal OMIM:607778 IHH 3549 HP:0002970 Genu varum OMIM:607778 IHH 3549 HP:0009882 Short distal phalanx of finger OMIM:607778 IHH 3549 HP:0002984 Hypoplasia of the radius OMIM:607778 IHH 3549 HP:0003099 Fibular overgrowth OMIM:607778 IHH 3549 HP:0003097 Short femur OMIM:607778 IHH 3549 HP:0003307 Hyperlordosis OMIM:607778 IHH 3549 HP:0100864 Short femoral neck OMIM:607778 IHH 3549 HP:0003312 Abnormal form of the vertebral bodies OMIM:607778 IHH 3549 HP:0003300 Ovoid vertebral bodies OMIM:607778 IHH 3549 HP:0002869 Flared iliac wings OMIM:607778 IHH 3549 HP:0000256 Macrocephaly OMIM:607778 IHH 3549 HP:0010241 Short proximal phalanx of finger OMIM:607778 IHH 3549 HP:0002866 Hypoplastic iliac wing OMIM:607778 IHH 3549 HP:0010306 Short thorax OMIM:607778 IHH 3549 HP:0000887 Cupped ribs OMIM:607778 IHH 3549 HP:0002823 Abnormality of the femur OMIM:607778 IHH 3549 HP:0002750 Delayed skeletal maturation OMIM:607778 IHH 3549 HP:0008789 Cone-shaped capital femoral epiphysis OMIM:607778 IHH 3549 HP:0001163 Abnormality of the metacarpal bones OMIM:253800 FKTN 2218 HP:0003593 Infantile onset OMIM:253800 FKTN 2218 HP:0000540 Hypermetropia OMIM:253800 FKTN 2218 HP:0000518 Cataract OMIM:253800 FKTN 2218 HP:0000238 Hydrocephalus OMIM:253800 FKTN 2218 HP:0002350 Cerebellar cyst OMIM:253800 FKTN 2218 HP:0001274 Agenesis of corpus callosum OMIM:253800 FKTN 2218 HP:0003202 Skeletal muscle atrophy OMIM:253800 FKTN 2218 HP:0002084 Encephalocele OMIM:253800 FKTN 2218 HP:0002365 Hypoplasia of the brainstem OMIM:253800 FKTN 2218 HP:0007260 Type II lissencephaly OMIM:253800 FKTN 2218 HP:0003236 Elevated serum creatine phosphokinase OMIM:253800 FKTN 2218 HP:0002126 Polymicrogyria OMIM:253800 FKTN 2218 HP:0007348 Hypoplasia of the pyramidal tract OMIM:253800 FKTN 2218 HP:0001360 Holoprosencephaly OMIM:253800 FKTN 2218 HP:0001252 Muscular hypotonia OMIM:253800 FKTN 2218 HP:0001371 Flexion contracture OMIM:253800 FKTN 2218 HP:0000007 Autosomal recessive inheritance OMIM:253800 FKTN 2218 HP:0001324 Muscle weakness OMIM:253800 FKTN 2218 HP:0001631 Defect in the atrial septum OMIM:253800 FKTN 2218 HP:0001302 Pachygyria OMIM:253800 FKTN 2218 HP:0003306 Spinal rigidity OMIM:253800 FKTN 2218 HP:0001642 Pulmonic stenosis OMIM:253800 FKTN 2218 HP:0000541 Retinal detachment OMIM:253800 FKTN 2218 HP:0001284 Areflexia OMIM:253800 FKTN 2218 HP:0000545 Myopia OMIM:253800 FKTN 2218 HP:0001669 Transposition of the great arteries OMIM:253800 FKTN 2218 HP:0007973 Retinal dysplasia OMIM:253800 FKTN 2218 HP:0002267 Exaggerated startle response OMIM:253800 FKTN 2218 HP:0000648 Optic atrophy OMIM:253800 FKTN 2218 HP:0002650 Scoliosis OMIM:253800 FKTN 2218 HP:0002093 Respiratory insufficiency OMIM:253800 FKTN 2218 HP:0001249 Intellectual disability OMIM:253800 FKTN 2218 HP:0001321 Cerebellar hypoplasia OMIM:253800 FKTN 2218 HP:0000568 Microphthalmos OMIM:253800 FKTN 2218 HP:0001250 Seizures OMIM:253800 FKTN 2218 HP:0000486 Strabismus OMIM:253800 FKTN 2218 HP:0003741 Congenital muscular dystrophy OMIM:253800 FKTN 2218 HP:0001685 Myocardial fibrosis OMIM:253800 FKTN 2218 HP:0008981 Calf muscle hypertrophy OMIM:615665 PDE6D 5147 HP:0000089 Renal hypoplasia OMIM:615665 PDE6D 5147 HP:0000550 Abolished electroretinogram (ERG) OMIM:615665 PDE6D 5147 HP:0001511 Intrauterine growth retardation OMIM:615665 PDE6D 5147 HP:0001263 Global developmental delay OMIM:615665 PDE6D 5147 HP:0000568 Microphthalmos OMIM:615665 PDE6D 5147 HP:0001159 Syndactyly OMIM:615665 PDE6D 5147 HP:0000007 Autosomal recessive inheritance OMIM:615665 PDE6D 5147 HP:0007973 Retinal dysplasia OMIM:615665 PDE6D 5147 HP:0001999 Abnormal facial shape OMIM:615665 PDE6D 5147 HP:0002419 Molar tooth sign on MRI OMIM:615665 PDE6D 5147 HP:0001162 Postaxial hand polydactyly OMIM:615665 PDE6D 5147 HP:0000589 Coloboma OMIM:616409 EEF1A2 1917 HP:0000718 Aggressive behavior OMIM:616409 EEF1A2 1917 HP:0002521 Hypsarrhythmia OMIM:616409 EEF1A2 1917 HP:0001263 Global developmental delay OMIM:616409 EEF1A2 1917 HP:0001252 Muscular hypotonia OMIM:616409 EEF1A2 1917 HP:0002317 Unsteady gait OMIM:616409 EEF1A2 1917 HP:0001250 Seizures OMIM:616409 EEF1A2 1917 HP:0000252 Microcephaly OMIM:616409 EEF1A2 1917 HP:0200134 Epileptic encephalopathy OMIM:600845 P2RX1 5023 HP:0001428 Somatic mutation OMIM:600845 P2RX1 5023 HP:0000978 Bruising susceptibility OMIM:600845 P2RX1 5023 HP:0000967 Petechiae OMIM:600175 TRPV4 59341 HP:0003828 Variable expressivity OMIM:600175 TRPV4 59341 HP:0003829 Incomplete penetrance OMIM:600175 TRPV4 59341 HP:0000006 Autosomal dominant inheritance OMIM:600175 TRPV4 59341 HP:0001252 Muscular hypotonia OMIM:600175 TRPV4 59341 HP:0001284 Areflexia OMIM:600175 TRPV4 59341 HP:0001763 Pes planus OMIM:600175 TRPV4 59341 HP:0002808 Kyphosis OMIM:600175 TRPV4 59341 HP:0001558 Decreased fetal movement OMIM:600175 TRPV4 59341 HP:0003236 Elevated serum creatine phosphokinase OMIM:600175 TRPV4 59341 HP:0008964 Nonprogressive muscular atrophy OMIM:600175 TRPV4 59341 HP:0001762 Talipes equinovarus OMIM:600175 TRPV4 59341 HP:0003273 Hip contracture OMIM:600175 TRPV4 59341 HP:0003307 Hyperlordosis OMIM:600175 TRPV4 59341 HP:0002650 Scoliosis OMIM:600175 TRPV4 59341 HP:0008956 Proximal lower limb amyotrophy OMIM:600175 TRPV4 59341 HP:0006380 Knee flexion contracture OMIM:600175 TRPV4 59341 HP:0002804 Arthrogryposis multiplex congenita OMIM:600175 TRPV4 59341 HP:0002460 Distal muscle weakness OMIM:600175 TRPV4 59341 HP:0003680 Nonprogressive disorder OMIM:600175 TRPV4 59341 HP:0003693 Distal amyotrophy OMIM:600175 TRPV4 59341 HP:0002987 Elbow flexion contracture OMIM:600175 TRPV4 59341 HP:0007269 Spinal muscular atrophy OMIM:600175 TRPV4 59341 HP:0004325 Decreased body weight OMIM:600175 TRPV4 59341 HP:0001376 Limitation of joint mobility OMIM:600175 TRPV4 59341 HP:0001265 Hyporeflexia ORPHANET:44 PEX19 5824 HP:0004322 Short stature ORPHANET:44 PEX19 5824 HP:0000486 Strabismus ORPHANET:44 PEX19 5824 HP:0001392 Abnormality of the liver ORPHANET:44 PEX19 5824 HP:0001347 Hyperreflexia ORPHANET:44 PEX19 5824 HP:0002269 Abnormality of neuronal migration ORPHANET:44 PEX19 5824 HP:0002353 EEG abnormality ORPHANET:44 PEX19 5824 HP:0007703 Abnormal retinal pigmentation ORPHANET:44 PEX19 5824 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:44 PEX19 5824 HP:0008207 Primary adrenal insufficiency ORPHANET:44 PEX19 5824 HP:0000407 Sensorineural hearing impairment ORPHANET:44 PEX19 5824 HP:0100543 Cognitive impairment ORPHANET:44 PEX19 5824 HP:0001252 Muscular hypotonia ORPHANET:44 PEX19 5824 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:44 PEX19 5824 HP:0000648 Optic atrophy ORPHANET:44 PEX19 5824 HP:0000508 Ptosis ORPHANET:44 PEX19 5824 HP:0000639 Nystagmus ORPHANET:44 PEX19 5824 HP:0000505 Visual impairment ORPHANET:44 PEX19 5824 HP:0000348 High forehead ORPHANET:44 PEX19 5824 HP:0000256 Macrocephaly ORPHANET:44 PEX19 5824 HP:0000268 Dolichocephaly ORPHANET:44 PEX19 5824 HP:0000463 Anteverted nares ORPHANET:44 PEX19 5824 HP:0000518 Cataract ORPHANET:44 PEX19 5824 HP:0001250 Seizures ORPHANET:44 PEX19 5824 HP:0002376 Developmental regression ORPHANET:44 PEX19 5824 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:44 PEX19 5824 HP:0000174 Abnormality of the palate ORPHANET:44 PEX19 5824 HP:0100022 Abnormality of movement ORPHANET:44 PEX19 5824 HP:0000954 Single transverse palmar crease ORPHANET:44 PEX12 5193 HP:0004322 Short stature ORPHANET:44 PEX12 5193 HP:0000486 Strabismus ORPHANET:44 PEX12 5193 HP:0001392 Abnormality of the liver ORPHANET:44 PEX12 5193 HP:0001347 Hyperreflexia ORPHANET:44 PEX12 5193 HP:0002269 Abnormality of neuronal migration ORPHANET:44 PEX12 5193 HP:0002353 EEG abnormality ORPHANET:44 PEX12 5193 HP:0007703 Abnormal retinal pigmentation ORPHANET:44 PEX12 5193 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:44 PEX12 5193 HP:0008207 Primary adrenal insufficiency ORPHANET:44 PEX12 5193 HP:0000407 Sensorineural hearing impairment ORPHANET:44 PEX12 5193 HP:0100543 Cognitive impairment ORPHANET:44 PEX12 5193 HP:0001252 Muscular hypotonia ORPHANET:44 PEX12 5193 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:44 PEX12 5193 HP:0000648 Optic atrophy ORPHANET:44 PEX12 5193 HP:0000508 Ptosis ORPHANET:44 PEX12 5193 HP:0000639 Nystagmus ORPHANET:44 PEX12 5193 HP:0000505 Visual impairment ORPHANET:44 PEX12 5193 HP:0000348 High forehead ORPHANET:44 PEX12 5193 HP:0000256 Macrocephaly ORPHANET:44 PEX12 5193 HP:0000268 Dolichocephaly ORPHANET:44 PEX12 5193 HP:0000463 Anteverted nares ORPHANET:44 PEX12 5193 HP:0000518 Cataract ORPHANET:44 PEX12 5193 HP:0001250 Seizures ORPHANET:44 PEX12 5193 HP:0002376 Developmental regression ORPHANET:44 PEX12 5193 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:44 PEX12 5193 HP:0000174 Abnormality of the palate ORPHANET:44 PEX12 5193 HP:0100022 Abnormality of movement ORPHANET:44 PEX12 5193 HP:0000954 Single transverse palmar crease ORPHANET:44 PEX2 5828 HP:0004322 Short stature ORPHANET:44 PEX2 5828 HP:0000486 Strabismus ORPHANET:44 PEX2 5828 HP:0001392 Abnormality of the liver ORPHANET:44 PEX2 5828 HP:0001347 Hyperreflexia ORPHANET:44 PEX2 5828 HP:0002269 Abnormality of neuronal migration ORPHANET:44 PEX2 5828 HP:0002353 EEG abnormality ORPHANET:44 PEX2 5828 HP:0007703 Abnormal retinal pigmentation ORPHANET:44 PEX2 5828 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:44 PEX2 5828 HP:0008207 Primary adrenal insufficiency ORPHANET:44 PEX2 5828 HP:0000407 Sensorineural hearing impairment ORPHANET:44 PEX2 5828 HP:0100543 Cognitive impairment ORPHANET:44 PEX2 5828 HP:0001252 Muscular hypotonia ORPHANET:44 PEX2 5828 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:44 PEX2 5828 HP:0000648 Optic atrophy ORPHANET:44 PEX2 5828 HP:0000508 Ptosis ORPHANET:44 PEX2 5828 HP:0000639 Nystagmus ORPHANET:44 PEX2 5828 HP:0000505 Visual impairment ORPHANET:44 PEX2 5828 HP:0000348 High forehead ORPHANET:44 PEX2 5828 HP:0000256 Macrocephaly ORPHANET:44 PEX2 5828 HP:0000268 Dolichocephaly ORPHANET:44 PEX2 5828 HP:0000463 Anteverted nares ORPHANET:44 PEX2 5828 HP:0000518 Cataract ORPHANET:44 PEX2 5828 HP:0001250 Seizures ORPHANET:44 PEX2 5828 HP:0002376 Developmental regression ORPHANET:44 PEX2 5828 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:44 PEX2 5828 HP:0000174 Abnormality of the palate ORPHANET:44 PEX2 5828 HP:0100022 Abnormality of movement ORPHANET:44 PEX2 5828 HP:0000954 Single transverse palmar crease ORPHANET:44 PEX10 5192 HP:0004322 Short stature ORPHANET:44 PEX10 5192 HP:0000486 Strabismus ORPHANET:44 PEX10 5192 HP:0001392 Abnormality of the liver ORPHANET:44 PEX10 5192 HP:0001347 Hyperreflexia ORPHANET:44 PEX10 5192 HP:0002269 Abnormality of neuronal migration ORPHANET:44 PEX10 5192 HP:0002353 EEG abnormality ORPHANET:44 PEX10 5192 HP:0007703 Abnormal retinal pigmentation ORPHANET:44 PEX10 5192 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:44 PEX10 5192 HP:0008207 Primary adrenal insufficiency ORPHANET:44 PEX10 5192 HP:0000407 Sensorineural hearing impairment ORPHANET:44 PEX10 5192 HP:0100543 Cognitive impairment ORPHANET:44 PEX10 5192 HP:0001252 Muscular hypotonia ORPHANET:44 PEX10 5192 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:44 PEX10 5192 HP:0000648 Optic atrophy ORPHANET:44 PEX10 5192 HP:0000508 Ptosis ORPHANET:44 PEX10 5192 HP:0000639 Nystagmus ORPHANET:44 PEX10 5192 HP:0000505 Visual impairment ORPHANET:44 PEX10 5192 HP:0000348 High forehead ORPHANET:44 PEX10 5192 HP:0000256 Macrocephaly ORPHANET:44 PEX10 5192 HP:0000268 Dolichocephaly ORPHANET:44 PEX10 5192 HP:0000463 Anteverted nares ORPHANET:44 PEX10 5192 HP:0000518 Cataract ORPHANET:44 PEX10 5192 HP:0001250 Seizures ORPHANET:44 PEX10 5192 HP:0002376 Developmental regression ORPHANET:44 PEX10 5192 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:44 PEX10 5192 HP:0000174 Abnormality of the palate ORPHANET:44 PEX10 5192 HP:0100022 Abnormality of movement ORPHANET:44 PEX10 5192 HP:0000954 Single transverse palmar crease ORPHANET:44 PEX5 5830 HP:0004322 Short stature ORPHANET:44 PEX5 5830 HP:0000486 Strabismus ORPHANET:44 PEX5 5830 HP:0001392 Abnormality of the liver ORPHANET:44 PEX5 5830 HP:0001347 Hyperreflexia ORPHANET:44 PEX5 5830 HP:0002269 Abnormality of neuronal migration ORPHANET:44 PEX5 5830 HP:0002353 EEG abnormality ORPHANET:44 PEX5 5830 HP:0007703 Abnormal retinal pigmentation ORPHANET:44 PEX5 5830 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:44 PEX5 5830 HP:0008207 Primary adrenal insufficiency ORPHANET:44 PEX5 5830 HP:0000407 Sensorineural hearing impairment ORPHANET:44 PEX5 5830 HP:0100543 Cognitive impairment ORPHANET:44 PEX5 5830 HP:0001252 Muscular hypotonia ORPHANET:44 PEX5 5830 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:44 PEX5 5830 HP:0000648 Optic atrophy ORPHANET:44 PEX5 5830 HP:0000508 Ptosis ORPHANET:44 PEX5 5830 HP:0000639 Nystagmus ORPHANET:44 PEX5 5830 HP:0000505 Visual impairment ORPHANET:44 PEX5 5830 HP:0000348 High forehead ORPHANET:44 PEX5 5830 HP:0000256 Macrocephaly ORPHANET:44 PEX5 5830 HP:0000268 Dolichocephaly ORPHANET:44 PEX5 5830 HP:0000463 Anteverted nares ORPHANET:44 PEX5 5830 HP:0000518 Cataract ORPHANET:44 PEX5 5830 HP:0001250 Seizures ORPHANET:44 PEX5 5830 HP:0002376 Developmental regression ORPHANET:44 PEX5 5830 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:44 PEX5 5830 HP:0000174 Abnormality of the palate ORPHANET:44 PEX5 5830 HP:0100022 Abnormality of movement ORPHANET:44 PEX5 5830 HP:0000954 Single transverse palmar crease ORPHANET:44 PEX16 9409 HP:0004322 Short stature ORPHANET:44 PEX16 9409 HP:0000486 Strabismus ORPHANET:44 PEX16 9409 HP:0001392 Abnormality of the liver ORPHANET:44 PEX16 9409 HP:0001347 Hyperreflexia ORPHANET:44 PEX16 9409 HP:0002269 Abnormality of neuronal migration ORPHANET:44 PEX16 9409 HP:0002353 EEG abnormality ORPHANET:44 PEX16 9409 HP:0007703 Abnormal retinal pigmentation ORPHANET:44 PEX16 9409 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:44 PEX16 9409 HP:0008207 Primary adrenal insufficiency ORPHANET:44 PEX16 9409 HP:0000407 Sensorineural hearing impairment ORPHANET:44 PEX16 9409 HP:0100543 Cognitive impairment ORPHANET:44 PEX16 9409 HP:0001252 Muscular hypotonia ORPHANET:44 PEX16 9409 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:44 PEX16 9409 HP:0000648 Optic atrophy ORPHANET:44 PEX16 9409 HP:0000508 Ptosis ORPHANET:44 PEX16 9409 HP:0000639 Nystagmus ORPHANET:44 PEX16 9409 HP:0000505 Visual impairment ORPHANET:44 PEX16 9409 HP:0000348 High forehead ORPHANET:44 PEX16 9409 HP:0000256 Macrocephaly ORPHANET:44 PEX16 9409 HP:0000268 Dolichocephaly ORPHANET:44 PEX16 9409 HP:0000463 Anteverted nares ORPHANET:44 PEX16 9409 HP:0000518 Cataract ORPHANET:44 PEX16 9409 HP:0001250 Seizures ORPHANET:44 PEX16 9409 HP:0002376 Developmental regression ORPHANET:44 PEX16 9409 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:44 PEX16 9409 HP:0000174 Abnormality of the palate ORPHANET:44 PEX16 9409 HP:0100022 Abnormality of movement ORPHANET:44 PEX16 9409 HP:0000954 Single transverse palmar crease ORPHANET:44 PEX14 5195 HP:0004322 Short stature ORPHANET:44 PEX14 5195 HP:0000486 Strabismus ORPHANET:44 PEX14 5195 HP:0001392 Abnormality of the liver ORPHANET:44 PEX14 5195 HP:0001347 Hyperreflexia ORPHANET:44 PEX14 5195 HP:0002269 Abnormality of neuronal migration ORPHANET:44 PEX14 5195 HP:0002353 EEG abnormality ORPHANET:44 PEX14 5195 HP:0007703 Abnormal retinal pigmentation ORPHANET:44 PEX14 5195 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:44 PEX14 5195 HP:0008207 Primary adrenal insufficiency ORPHANET:44 PEX14 5195 HP:0000407 Sensorineural hearing impairment ORPHANET:44 PEX14 5195 HP:0100543 Cognitive impairment ORPHANET:44 PEX14 5195 HP:0001252 Muscular hypotonia ORPHANET:44 PEX14 5195 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:44 PEX14 5195 HP:0000648 Optic atrophy ORPHANET:44 PEX14 5195 HP:0000508 Ptosis ORPHANET:44 PEX14 5195 HP:0000639 Nystagmus ORPHANET:44 PEX14 5195 HP:0000505 Visual impairment ORPHANET:44 PEX14 5195 HP:0000348 High forehead ORPHANET:44 PEX14 5195 HP:0000256 Macrocephaly ORPHANET:44 PEX14 5195 HP:0000268 Dolichocephaly ORPHANET:44 PEX14 5195 HP:0000463 Anteverted nares ORPHANET:44 PEX14 5195 HP:0000518 Cataract ORPHANET:44 PEX14 5195 HP:0001250 Seizures ORPHANET:44 PEX14 5195 HP:0002376 Developmental regression ORPHANET:44 PEX14 5195 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:44 PEX14 5195 HP:0000174 Abnormality of the palate ORPHANET:44 PEX14 5195 HP:0100022 Abnormality of movement ORPHANET:44 PEX14 5195 HP:0000954 Single transverse palmar crease ORPHANET:44 PEX13 5194 HP:0004322 Short stature ORPHANET:44 PEX13 5194 HP:0000486 Strabismus ORPHANET:44 PEX13 5194 HP:0001392 Abnormality of the liver ORPHANET:44 PEX13 5194 HP:0001347 Hyperreflexia ORPHANET:44 PEX13 5194 HP:0002269 Abnormality of neuronal migration ORPHANET:44 PEX13 5194 HP:0002353 EEG abnormality ORPHANET:44 PEX13 5194 HP:0007703 Abnormal retinal pigmentation ORPHANET:44 PEX13 5194 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:44 PEX13 5194 HP:0008207 Primary adrenal insufficiency ORPHANET:44 PEX13 5194 HP:0000407 Sensorineural hearing impairment ORPHANET:44 PEX13 5194 HP:0100543 Cognitive impairment ORPHANET:44 PEX13 5194 HP:0001252 Muscular hypotonia ORPHANET:44 PEX13 5194 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:44 PEX13 5194 HP:0000648 Optic atrophy ORPHANET:44 PEX13 5194 HP:0000508 Ptosis ORPHANET:44 PEX13 5194 HP:0000639 Nystagmus ORPHANET:44 PEX13 5194 HP:0000505 Visual impairment ORPHANET:44 PEX13 5194 HP:0000348 High forehead ORPHANET:44 PEX13 5194 HP:0000256 Macrocephaly ORPHANET:44 PEX13 5194 HP:0000268 Dolichocephaly ORPHANET:44 PEX13 5194 HP:0000463 Anteverted nares ORPHANET:44 PEX13 5194 HP:0000518 Cataract ORPHANET:44 PEX13 5194 HP:0001250 Seizures ORPHANET:44 PEX13 5194 HP:0002376 Developmental regression ORPHANET:44 PEX13 5194 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:44 PEX13 5194 HP:0000174 Abnormality of the palate ORPHANET:44 PEX13 5194 HP:0100022 Abnormality of movement ORPHANET:44 PEX13 5194 HP:0000954 Single transverse palmar crease ORPHANET:44 PEX1 5189 HP:0004322 Short stature ORPHANET:44 PEX1 5189 HP:0000486 Strabismus ORPHANET:44 PEX1 5189 HP:0001392 Abnormality of the liver ORPHANET:44 PEX1 5189 HP:0001347 Hyperreflexia ORPHANET:44 PEX1 5189 HP:0002269 Abnormality of neuronal migration ORPHANET:44 PEX1 5189 HP:0002353 EEG abnormality ORPHANET:44 PEX1 5189 HP:0007703 Abnormal retinal pigmentation ORPHANET:44 PEX1 5189 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:44 PEX1 5189 HP:0008207 Primary adrenal insufficiency ORPHANET:44 PEX1 5189 HP:0000407 Sensorineural hearing impairment ORPHANET:44 PEX1 5189 HP:0100543 Cognitive impairment ORPHANET:44 PEX1 5189 HP:0001252 Muscular hypotonia ORPHANET:44 PEX1 5189 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:44 PEX1 5189 HP:0000648 Optic atrophy ORPHANET:44 PEX1 5189 HP:0000508 Ptosis ORPHANET:44 PEX1 5189 HP:0000639 Nystagmus ORPHANET:44 PEX1 5189 HP:0000505 Visual impairment ORPHANET:44 PEX1 5189 HP:0000348 High forehead ORPHANET:44 PEX1 5189 HP:0000256 Macrocephaly ORPHANET:44 PEX1 5189 HP:0000268 Dolichocephaly ORPHANET:44 PEX1 5189 HP:0000463 Anteverted nares ORPHANET:44 PEX1 5189 HP:0000518 Cataract ORPHANET:44 PEX1 5189 HP:0001250 Seizures ORPHANET:44 PEX1 5189 HP:0002376 Developmental regression ORPHANET:44 PEX1 5189 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:44 PEX1 5189 HP:0000174 Abnormality of the palate ORPHANET:44 PEX1 5189 HP:0100022 Abnormality of movement ORPHANET:44 PEX1 5189 HP:0000954 Single transverse palmar crease ORPHANET:44 PEX6 5190 HP:0004322 Short stature ORPHANET:44 PEX6 5190 HP:0000486 Strabismus ORPHANET:44 PEX6 5190 HP:0001392 Abnormality of the liver ORPHANET:44 PEX6 5190 HP:0001347 Hyperreflexia ORPHANET:44 PEX6 5190 HP:0002269 Abnormality of neuronal migration ORPHANET:44 PEX6 5190 HP:0002353 EEG abnormality ORPHANET:44 PEX6 5190 HP:0007703 Abnormal retinal pigmentation ORPHANET:44 PEX6 5190 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:44 PEX6 5190 HP:0008207 Primary adrenal insufficiency ORPHANET:44 PEX6 5190 HP:0000407 Sensorineural hearing impairment ORPHANET:44 PEX6 5190 HP:0100543 Cognitive impairment ORPHANET:44 PEX6 5190 HP:0001252 Muscular hypotonia ORPHANET:44 PEX6 5190 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:44 PEX6 5190 HP:0000648 Optic atrophy ORPHANET:44 PEX6 5190 HP:0000508 Ptosis ORPHANET:44 PEX6 5190 HP:0000639 Nystagmus ORPHANET:44 PEX6 5190 HP:0000505 Visual impairment ORPHANET:44 PEX6 5190 HP:0000348 High forehead ORPHANET:44 PEX6 5190 HP:0000256 Macrocephaly ORPHANET:44 PEX6 5190 HP:0000268 Dolichocephaly ORPHANET:44 PEX6 5190 HP:0000463 Anteverted nares ORPHANET:44 PEX6 5190 HP:0000518 Cataract ORPHANET:44 PEX6 5190 HP:0001250 Seizures ORPHANET:44 PEX6 5190 HP:0002376 Developmental regression ORPHANET:44 PEX6 5190 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:44 PEX6 5190 HP:0000174 Abnormality of the palate ORPHANET:44 PEX6 5190 HP:0100022 Abnormality of movement ORPHANET:44 PEX6 5190 HP:0000954 Single transverse palmar crease ORPHANET:44 PEX3 8504 HP:0004322 Short stature ORPHANET:44 PEX3 8504 HP:0000486 Strabismus ORPHANET:44 PEX3 8504 HP:0001392 Abnormality of the liver ORPHANET:44 PEX3 8504 HP:0001347 Hyperreflexia ORPHANET:44 PEX3 8504 HP:0002269 Abnormality of neuronal migration ORPHANET:44 PEX3 8504 HP:0002353 EEG abnormality ORPHANET:44 PEX3 8504 HP:0007703 Abnormal retinal pigmentation ORPHANET:44 PEX3 8504 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:44 PEX3 8504 HP:0008207 Primary adrenal insufficiency ORPHANET:44 PEX3 8504 HP:0000407 Sensorineural hearing impairment ORPHANET:44 PEX3 8504 HP:0100543 Cognitive impairment ORPHANET:44 PEX3 8504 HP:0001252 Muscular hypotonia ORPHANET:44 PEX3 8504 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:44 PEX3 8504 HP:0000648 Optic atrophy ORPHANET:44 PEX3 8504 HP:0000508 Ptosis ORPHANET:44 PEX3 8504 HP:0000639 Nystagmus ORPHANET:44 PEX3 8504 HP:0000505 Visual impairment ORPHANET:44 PEX3 8504 HP:0000348 High forehead ORPHANET:44 PEX3 8504 HP:0000256 Macrocephaly ORPHANET:44 PEX3 8504 HP:0000268 Dolichocephaly ORPHANET:44 PEX3 8504 HP:0000463 Anteverted nares ORPHANET:44 PEX3 8504 HP:0000518 Cataract ORPHANET:44 PEX3 8504 HP:0001250 Seizures ORPHANET:44 PEX3 8504 HP:0002376 Developmental regression ORPHANET:44 PEX3 8504 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:44 PEX3 8504 HP:0000174 Abnormality of the palate ORPHANET:44 PEX3 8504 HP:0100022 Abnormality of movement ORPHANET:44 PEX3 8504 HP:0000954 Single transverse palmar crease ORPHANET:44 PEX11B 8799 HP:0004322 Short stature ORPHANET:44 PEX11B 8799 HP:0000486 Strabismus ORPHANET:44 PEX11B 8799 HP:0001392 Abnormality of the liver ORPHANET:44 PEX11B 8799 HP:0001347 Hyperreflexia ORPHANET:44 PEX11B 8799 HP:0002269 Abnormality of neuronal migration ORPHANET:44 PEX11B 8799 HP:0002353 EEG abnormality ORPHANET:44 PEX11B 8799 HP:0007703 Abnormal retinal pigmentation ORPHANET:44 PEX11B 8799 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:44 PEX11B 8799 HP:0008207 Primary adrenal insufficiency ORPHANET:44 PEX11B 8799 HP:0000407 Sensorineural hearing impairment ORPHANET:44 PEX11B 8799 HP:0100543 Cognitive impairment ORPHANET:44 PEX11B 8799 HP:0001252 Muscular hypotonia ORPHANET:44 PEX11B 8799 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:44 PEX11B 8799 HP:0000648 Optic atrophy ORPHANET:44 PEX11B 8799 HP:0000508 Ptosis ORPHANET:44 PEX11B 8799 HP:0000639 Nystagmus ORPHANET:44 PEX11B 8799 HP:0000505 Visual impairment ORPHANET:44 PEX11B 8799 HP:0000348 High forehead ORPHANET:44 PEX11B 8799 HP:0000256 Macrocephaly ORPHANET:44 PEX11B 8799 HP:0000268 Dolichocephaly ORPHANET:44 PEX11B 8799 HP:0000463 Anteverted nares ORPHANET:44 PEX11B 8799 HP:0000518 Cataract ORPHANET:44 PEX11B 8799 HP:0001250 Seizures ORPHANET:44 PEX11B 8799 HP:0002376 Developmental regression ORPHANET:44 PEX11B 8799 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:44 PEX11B 8799 HP:0000174 Abnormality of the palate ORPHANET:44 PEX11B 8799 HP:0100022 Abnormality of movement ORPHANET:44 PEX11B 8799 HP:0000954 Single transverse palmar crease ORPHANET:44 PEX26 55670 HP:0004322 Short stature ORPHANET:44 PEX26 55670 HP:0000486 Strabismus ORPHANET:44 PEX26 55670 HP:0001392 Abnormality of the liver ORPHANET:44 PEX26 55670 HP:0001347 Hyperreflexia ORPHANET:44 PEX26 55670 HP:0002269 Abnormality of neuronal migration ORPHANET:44 PEX26 55670 HP:0002353 EEG abnormality ORPHANET:44 PEX26 55670 HP:0007703 Abnormal retinal pigmentation ORPHANET:44 PEX26 55670 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:44 PEX26 55670 HP:0008207 Primary adrenal insufficiency ORPHANET:44 PEX26 55670 HP:0000407 Sensorineural hearing impairment ORPHANET:44 PEX26 55670 HP:0100543 Cognitive impairment ORPHANET:44 PEX26 55670 HP:0001252 Muscular hypotonia ORPHANET:44 PEX26 55670 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:44 PEX26 55670 HP:0000648 Optic atrophy ORPHANET:44 PEX26 55670 HP:0000508 Ptosis ORPHANET:44 PEX26 55670 HP:0000639 Nystagmus ORPHANET:44 PEX26 55670 HP:0000505 Visual impairment ORPHANET:44 PEX26 55670 HP:0000348 High forehead ORPHANET:44 PEX26 55670 HP:0000256 Macrocephaly ORPHANET:44 PEX26 55670 HP:0000268 Dolichocephaly ORPHANET:44 PEX26 55670 HP:0000463 Anteverted nares ORPHANET:44 PEX26 55670 HP:0000518 Cataract ORPHANET:44 PEX26 55670 HP:0001250 Seizures ORPHANET:44 PEX26 55670 HP:0002376 Developmental regression ORPHANET:44 PEX26 55670 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:44 PEX26 55670 HP:0000174 Abnormality of the palate ORPHANET:44 PEX26 55670 HP:0100022 Abnormality of movement ORPHANET:44 PEX26 55670 HP:0000954 Single transverse palmar crease OMIM:613611 PTPN14 5784 HP:0000218 High palate OMIM:613611 PTPN14 5784 HP:0001698 Pericardial effusion OMIM:613611 PTPN14 5784 HP:0000007 Autosomal recessive inheritance OMIM:613611 PTPN14 5784 HP:0000453 Choanal atresia OMIM:615075 CTNNB1 1499 HP:0001249 Intellectual disability OMIM:615075 CTNNB1 1499 HP:0001263 Global developmental delay OMIM:615075 CTNNB1 1499 HP:0001264 Spastic diplegia OMIM:615075 CTNNB1 1499 HP:0000219 Thin upper lip vermilion OMIM:615075 CTNNB1 1499 HP:0000252 Microcephaly OMIM:615075 CTNNB1 1499 HP:0001252 Muscular hypotonia OMIM:615075 CTNNB1 1499 HP:0002079 Hypoplasia of the corpus callosum OMIM:613861 DHDDS 79947 HP:0000510 Retinitis pigmentosa OMIM:613861 DHDDS 79947 HP:0000007 Autosomal recessive inheritance OMIM:613861 DHDDS 79947 HP:0011505 Cystoid macular edema OMIM:615281 DARS 1615 HP:0002079 Hypoplasia of the corpus callosum OMIM:615281 DARS 1615 HP:0003429 CNS hypomyelination OMIM:615281 DARS 1615 HP:0001347 Hyperreflexia OMIM:615281 DARS 1615 HP:0003593 Infantile onset OMIM:615281 DARS 1615 HP:0002352 Leukoencephalopathy OMIM:615281 DARS 1615 HP:0003676 Progressive disorder OMIM:615281 DARS 1615 HP:0001257 Spasticity OMIM:615281 DARS 1615 HP:0003487 Babinski sign OMIM:615281 DARS 1615 HP:0008936 Muscular hypotonia of the trunk OMIM:615281 DARS 1615 HP:0001270 Motor delay OMIM:615281 DARS 1615 HP:0001256 Intellectual disability, mild OMIM:615281 DARS 1615 HP:0000639 Nystagmus OMIM:615281 DARS 1615 HP:0000007 Autosomal recessive inheritance OMIM:212066 MGAT2 4247 HP:0002317 Unsteady gait OMIM:212066 MGAT2 4247 HP:0002673 Coxa valga OMIM:212066 MGAT2 4247 HP:0006887 Intellectual disability, progressive OMIM:212066 MGAT2 4247 HP:0001763 Pes planus OMIM:212066 MGAT2 4247 HP:0000233 Thin vermilion border OMIM:212066 MGAT2 4247 HP:0009765 Low hanging columella OMIM:212066 MGAT2 4247 HP:0000194 Open mouth OMIM:212066 MGAT2 4247 HP:0000938 Osteopenia OMIM:212066 MGAT2 4247 HP:0000733 Stereotypic behavior OMIM:212066 MGAT2 4247 HP:0000767 Pectus excavatum OMIM:212066 MGAT2 4247 HP:0012301 Type II transferrin isoform profile OMIM:212066 MGAT2 4247 HP:0000358 Posteriorly rotated ears OMIM:212066 MGAT2 4247 HP:0000400 Macrotia OMIM:212066 MGAT2 4247 HP:0004841 Reduced factor XII activity OMIM:212066 MGAT2 4247 HP:0001547 Abnormality of the rib cage OMIM:212066 MGAT2 4247 HP:0004322 Short stature OMIM:212066 MGAT2 4247 HP:0000154 Wide mouth OMIM:212066 MGAT2 4247 HP:0000256 Macrocephaly OMIM:212066 MGAT2 4247 HP:0001508 Failure to thrive OMIM:212066 MGAT2 4247 HP:0000527 Long eyelashes OMIM:212066 MGAT2 4247 HP:0000470 Short neck OMIM:212066 MGAT2 4247 HP:0000718 Aggressive behavior OMIM:212066 MGAT2 4247 HP:0007466 Midfrontal capillary hemangioma OMIM:212066 MGAT2 4247 HP:0001572 Macrodontia OMIM:212066 MGAT2 4247 HP:0001629 Ventricular septal defect OMIM:212066 MGAT2 4247 HP:0000248 Brachycephaly OMIM:212066 MGAT2 4247 HP:0010864 Intellectual disability, severe OMIM:212066 MGAT2 4247 HP:0000252 Microcephaly OMIM:212066 MGAT2 4247 HP:0000742 Self-mutilation OMIM:212066 MGAT2 4247 HP:0003423 Thoracolumbar kyphoscoliosis OMIM:212066 MGAT2 4247 HP:0100543 Cognitive impairment OMIM:212066 MGAT2 4247 HP:0000007 Autosomal recessive inheritance OMIM:212066 MGAT2 4247 HP:0003100 Slender long bone OMIM:212066 MGAT2 4247 HP:0000426 Prominent nasal bridge OMIM:212066 MGAT2 4247 HP:0001976 Reduced antithrombin III activity OMIM:212066 MGAT2 4247 HP:0000574 Thick eyebrow OMIM:212066 MGAT2 4247 HP:0000232 Everted lower lip vermilion OMIM:212066 MGAT2 4247 HP:0001290 Generalized hypotonia OMIM:212066 MGAT2 4247 HP:0000212 Gingival overgrowth OMIM:212066 MGAT2 4247 HP:0000407 Sensorineural hearing impairment OMIM:212066 MGAT2 4247 HP:0000278 Retrognathia OMIM:212066 MGAT2 4247 HP:0009623 Proximal placement of thumb OMIM:212066 MGAT2 4247 HP:0000494 Downslanted palpebral fissures OMIM:212066 MGAT2 4247 HP:0000098 Tall stature OMIM:212066 MGAT2 4247 HP:0008897 Postnatal growth retardation OMIM:212066 MGAT2 4247 HP:0001007 Hirsutism OMIM:212066 MGAT2 4247 HP:0001929 Reduced factor XI activity OMIM:212066 MGAT2 4247 HP:0008070 Sparse hair OMIM:212066 MGAT2 4247 HP:0010808 Protruding tongue OMIM:212066 MGAT2 4247 HP:0011858 Reduced factor IX activity OMIM:212066 MGAT2 4247 HP:0000699 Diastema OMIM:212066 MGAT2 4247 HP:0001250 Seizures OMIM:227646 FANCD2 2177 HP:0000365 Hearing impairment OMIM:227646 FANCD2 2177 HP:0001875 Neutropenia OMIM:227646 FANCD2 2177 HP:0001873 Thrombocytopenia OMIM:227646 FANCD2 2177 HP:0001518 Small for gestational age OMIM:227646 FANCD2 2177 HP:0001896 Reticulocytopenia OMIM:227646 FANCD2 2177 HP:0001903 Anemia OMIM:227646 FANCD2 2177 HP:0003213 Deficient excision of UV-induced pyrimidine dimers in DNA OMIM:227646 FANCD2 2177 HP:0000957 Cafe-au-lait spot OMIM:227646 FANCD2 2177 HP:0001876 Pancytopenia OMIM:227646 FANCD2 2177 HP:0001909 Leukemia OMIM:227646 FANCD2 2177 HP:0009943 Complete duplication of thumb phalanx OMIM:227646 FANCD2 2177 HP:0009778 Short thumb OMIM:227646 FANCD2 2177 HP:0000104 Renal agenesis OMIM:227646 FANCD2 2177 HP:0004322 Short stature OMIM:227646 FANCD2 2177 HP:0000086 Ectopic kidney OMIM:227646 FANCD2 2177 HP:0001000 Abnormality of skin pigmentation OMIM:227646 FANCD2 2177 HP:0003974 Absent radius OMIM:227646 FANCD2 2177 HP:0000815 Hypergonadotropic hypogonadism OMIM:227646 FANCD2 2177 HP:0000081 Duplicated collecting system OMIM:227646 FANCD2 2177 HP:0000028 Cryptorchidism OMIM:227646 FANCD2 2177 HP:0001017 Anemic pallor OMIM:227646 FANCD2 2177 HP:0003221 Chromosomal breakage induced by crosslinking agents OMIM:227646 FANCD2 2177 HP:0003214 Prolonged G2 phase of cell cycle OMIM:227646 FANCD2 2177 HP:0000085 Horseshoe kidney OMIM:227646 FANCD2 2177 HP:0002564 Malformation of the heart and great vessels OMIM:227646 FANCD2 2177 HP:0000978 Bruising susceptibility OMIM:227646 FANCD2 2177 HP:0000568 Microphthalmos OMIM:227646 FANCD2 2177 HP:0000007 Autosomal recessive inheritance OMIM:227646 FANCD2 2177 HP:0001249 Intellectual disability OMIM:227646 FANCD2 2177 HP:0000252 Microcephaly OMIM:227646 FANCD2 2177 HP:0009777 Absent thumb OMIM:227646 FANCD2 2177 HP:0000486 Strabismus OMIM:613453 SERPINB6 5269 HP:0000007 Autosomal recessive inheritance OMIM:613453 SERPINB6 5269 HP:0001730 Progressive hearing impairment OMIM:616393 EEF1A2 1917 HP:0005280 Depressed nasal bridge OMIM:616393 EEF1A2 1917 HP:0001250 Seizures OMIM:616393 EEF1A2 1917 HP:0001252 Muscular hypotonia OMIM:616393 EEF1A2 1917 HP:0000232 Everted lower lip vermilion OMIM:616393 EEF1A2 1917 HP:0000718 Aggressive behavior OMIM:616393 EEF1A2 1917 HP:0002714 Downturned corners of mouth OMIM:616393 EEF1A2 1917 HP:0000286 Epicanthus OMIM:616393 EEF1A2 1917 HP:0001249 Intellectual disability OMIM:616393 EEF1A2 1917 HP:0001263 Global developmental delay OMIM:616393 EEF1A2 1917 HP:0000494 Downslanted palpebral fissures OMIM:616393 EEF1A2 1917 HP:0010804 Tented upper lip vermilion OMIM:616393 EEF1A2 1917 HP:0000490 Deeply set eye OMIM:616393 EEF1A2 1917 HP:0000369 Low-set ears OMIM:614190 PDE8B 8622 HP:0008221 Adrenal hyperplasia OMIM:614190 PDE8B 8622 HP:0001578 Hypercortisolism OMIM:614190 PDE8B 8622 HP:0000006 Autosomal dominant inheritance OMIM:615934 TMEM173 340061 HP:0003326 Myalgia OMIM:615934 TMEM173 340061 HP:0010702 Hypergammaglobulinemia OMIM:615934 TMEM173 340061 HP:0001945 Fever OMIM:615934 TMEM173 340061 HP:0001894 Thrombocytosis OMIM:615934 TMEM173 340061 HP:0001903 Anemia OMIM:615934 TMEM173 340061 HP:0002205 Recurrent respiratory infections OMIM:615934 TMEM173 340061 HP:0003565 Elevated erythrocyte sedimentation rate OMIM:615934 TMEM173 340061 HP:0002729 Follicular hyperplasia OMIM:615934 TMEM173 340061 HP:0002829 Arthralgia OMIM:615934 TMEM173 340061 HP:0010783 Erythema OMIM:615934 TMEM173 340061 HP:0001882 Leukopenia OMIM:615934 TMEM173 340061 HP:0200039 Pustule OMIM:615934 TMEM173 340061 HP:0001387 Joint stiffness OMIM:615934 TMEM173 340061 HP:0001009 Telangiectasia OMIM:615934 TMEM173 340061 HP:0008404 Nail dystrophy OMIM:615934 TMEM173 340061 HP:0000965 Cutis marmorata OMIM:615934 TMEM173 340061 HP:0001508 Failure to thrive OMIM:615934 TMEM173 340061 HP:0001510 Growth delay OMIM:615934 TMEM173 340061 HP:0100614 Myositis OMIM:615934 TMEM173 340061 HP:0006530 Interstitial pulmonary disease OMIM:605479 ABCB11 8647 HP:0001081 Cholelithiasis OMIM:605479 ABCB11 8647 HP:0000007 Autosomal recessive inheritance OMIM:605479 ABCB11 8647 HP:0002240 Hepatomegaly OMIM:605479 ABCB11 8647 HP:0000989 Pruritus OMIM:605479 ABCB11 8647 HP:0000952 Jaundice OMIM:605479 ABCB11 8647 HP:0002908 Conjugated hyperbilirubinemia OMIM:605479 ABCB11 8647 HP:0001406 Intrahepatic cholestasis OMIM:605479 ABCB11 8647 HP:0003155 Elevated alkaline phosphatase OMIM:605462 PTCH1 5727 HP:0002671 Basal cell carcinoma OMIM:605462 RASA1 5921 HP:0002671 Basal cell carcinoma OMIM:605462 PTCH2 8643 HP:0002671 Basal cell carcinoma OMIM:162000 UMOD 7369 HP:0000083 Renal insufficiency OMIM:162000 UMOD 7369 HP:0000006 Autosomal dominant inheritance OMIM:162000 UMOD 7369 HP:0003621 Juvenile onset OMIM:162000 UMOD 7369 HP:0000092 Tubular atrophy OMIM:162000 UMOD 7369 HP:0001997 Gout OMIM:162000 UMOD 7369 HP:0003676 Progressive disorder OMIM:162000 UMOD 7369 HP:0000112 Nephropathy OMIM:614055 ACAT2 39 HP:0003542 Increased serum pyruvate OMIM:614055 ACAT2 39 HP:0002151 Increased serum lactate OMIM:614055 ACAT2 39 HP:0002072 Chorea OMIM:614055 ACAT2 39 HP:0001263 Global developmental delay OMIM:614055 ACAT2 39 HP:0001252 Muscular hypotonia OMIM:118300 PMP22 5376 HP:0003693 Distal amyotrophy OMIM:118300 PMP22 5376 HP:0001761 Pes cavus OMIM:118300 PMP22 5376 HP:0003621 Juvenile onset OMIM:118300 PMP22 5376 HP:0001884 Talipes calcaneovalgus OMIM:118300 PMP22 5376 HP:0000006 Autosomal dominant inheritance OMIM:118300 PMP22 5376 HP:0009027 Foot dorsiflexor weakness OMIM:118300 PMP22 5376 HP:0001265 Hyporeflexia OMIM:118300 PMP22 5376 HP:0002460 Distal muscle weakness OMIM:118300 PMP22 5376 HP:0002936 Distal sensory impairment OMIM:118300 PMP22 5376 HP:0011463 Childhood onset OMIM:118300 PMP22 5376 HP:0001765 Hammertoe OMIM:118300 PMP22 5376 HP:0000407 Sensorineural hearing impairment OMIM:118300 PMP22 5376 HP:0001171 Split hand OMIM:118300 PMP22 5376 HP:0001284 Areflexia OMIM:118300 PMP22 5376 HP:0003376 Steppage gait OMIM:118300 PMP22 5376 HP:0003431 Decreased motor nerve conduction velocity OMIM:615402 ABCB6 10058 HP:0000006 Autosomal dominant inheritance OMIM:120435 MSH2 4436 HP:0003003 Colon cancer OMIM:120435 MSH2 4436 HP:0000006 Autosomal dominant inheritance OMIM:613791 MASP2 10747 HP:0006532 Recurrent pneumonia OMIM:613791 MASP2 10747 HP:0002725 Systemic lupus erythematosus OMIM:613791 MASP2 10747 HP:0100279 Ulcerative colitis OMIM:613791 MASP2 10747 HP:0004431 Complement deficiency OMIM:613791 MASP2 10747 HP:0000006 Autosomal dominant inheritance OMIM:601776 CHST14 113189 HP:0000365 Hearing impairment OMIM:601776 CHST14 113189 HP:0000974 Hyperextensible skin OMIM:601776 CHST14 113189 HP:0001166 Arachnodactyly OMIM:601776 CHST14 113189 HP:0002761 Generalized joint laxity OMIM:601776 CHST14 113189 HP:0000270 Delayed cranial suture closure OMIM:601776 CHST14 113189 HP:0000100 Nephrotic syndrome OMIM:601776 CHST14 113189 HP:0000541 Retinal detachment OMIM:601776 CHST14 113189 HP:0000160 Narrow mouth OMIM:601776 CHST14 113189 HP:0000358 Posteriorly rotated ears OMIM:601776 CHST14 113189 HP:0000028 Cryptorchidism OMIM:601776 CHST14 113189 HP:0000248 Brachycephaly OMIM:601776 CHST14 113189 HP:0002107 Pneumothorax OMIM:601776 CHST14 113189 HP:0000482 Microcornea OMIM:601776 CHST14 113189 HP:0000978 Bruising susceptibility OMIM:601776 CHST14 113189 HP:0000126 Hydronephrosis OMIM:601776 CHST14 113189 HP:0000316 Hypertelorism OMIM:601776 CHST14 113189 HP:0001030 Fragile skin OMIM:601776 CHST14 113189 HP:0000239 Large fontanelles OMIM:601776 CHST14 113189 HP:0001581 Recurrent skin infections OMIM:601776 CHST14 113189 HP:0001631 Defect in the atrial septum OMIM:601776 CHST14 113189 HP:0100699 Scarring OMIM:601776 CHST14 113189 HP:0005684 Distal arthrogryposis OMIM:601776 CHST14 113189 HP:0000324 Facial asymmetry OMIM:601776 CHST14 113189 HP:0001263 Global developmental delay OMIM:601776 CHST14 113189 HP:0000506 Telecanthus OMIM:601776 CHST14 113189 HP:0002036 Hiatus hernia OMIM:601776 CHST14 113189 HP:0004425 Flat forehead OMIM:601776 CHST14 113189 HP:0000337 Broad forehead OMIM:601776 CHST14 113189 HP:0001762 Talipes equinovarus OMIM:601776 CHST14 113189 HP:0000486 Strabismus OMIM:601776 CHST14 113189 HP:0000592 Blue sclerae OMIM:601776 CHST14 113189 HP:0001373 Joint dislocation OMIM:601776 CHST14 113189 HP:0000501 Glaucoma OMIM:601776 CHST14 113189 HP:0001540 Diastasis recti OMIM:601776 CHST14 113189 HP:0000767 Pectus excavatum OMIM:601776 CHST14 113189 HP:0000343 Long philtrum OMIM:601776 CHST14 113189 HP:0002019 Constipation OMIM:601776 CHST14 113189 HP:0000218 High palate OMIM:601776 CHST14 113189 HP:0002566 Intestinal malrotation OMIM:601776 CHST14 113189 HP:0000411 Protruding ear OMIM:601776 CHST14 113189 HP:0000175 Cleft palate OMIM:601776 CHST14 113189 HP:0000545 Myopia OMIM:601776 CHST14 113189 HP:0001252 Muscular hypotonia OMIM:601776 CHST14 113189 HP:0001537 Umbilical hernia OMIM:601776 CHST14 113189 HP:0000494 Downslanted palpebral fissures OMIM:601776 CHST14 113189 HP:0001249 Intellectual disability OMIM:601776 CHST14 113189 HP:0002119 Ventriculomegaly OMIM:601776 CHST14 113189 HP:0001181 Adducted thumb OMIM:601776 CHST14 113189 HP:0002804 Arthrogryposis multiplex congenita OMIM:601776 CHST14 113189 HP:0002650 Scoliosis OMIM:601776 CHST14 113189 HP:0001270 Motor delay OMIM:601776 CHST14 113189 HP:0000308 Microretrognathia OMIM:601776 CHST14 113189 HP:0000593 Abnormality of the anterior chamber OMIM:601776 CHST14 113189 HP:0002246 Abnormality of the duodenum OMIM:601776 CHST14 113189 HP:0001388 Joint laxity OMIM:601776 CHST14 113189 HP:0000007 Autosomal recessive inheritance OMIM:601776 CHST14 113189 HP:0000219 Thin upper lip vermilion OMIM:224050 VLDLR 7436 HP:0000750 Delayed speech and language development OMIM:224050 VLDLR 7436 HP:0001252 Muscular hypotonia OMIM:224050 VLDLR 7436 HP:0000640 Gaze-evoked nystagmus OMIM:224050 VLDLR 7436 HP:0001302 Pachygyria OMIM:224050 VLDLR 7436 HP:0002075 Dysdiadochokinesis OMIM:224050 VLDLR 7436 HP:0003577 Congenital onset OMIM:224050 VLDLR 7436 HP:0001763 Pes planus OMIM:224050 VLDLR 7436 HP:0003680 Nonprogressive disorder OMIM:224050 VLDLR 7436 HP:0001321 Cerebellar hypoplasia OMIM:224050 VLDLR 7436 HP:0004322 Short stature OMIM:224050 VLDLR 7436 HP:0002465 Poor speech OMIM:224050 VLDLR 7436 HP:0009879 Cortical gyral simplification OMIM:224050 VLDLR 7436 HP:0001250 Seizures OMIM:224050 VLDLR 7436 HP:0002066 Gait ataxia OMIM:224050 VLDLR 7436 HP:0000518 Cataract OMIM:224050 VLDLR 7436 HP:0000007 Autosomal recessive inheritance OMIM:224050 VLDLR 7436 HP:0001272 Cerebellar atrophy OMIM:224050 VLDLR 7436 HP:0001260 Dysarthria OMIM:224050 VLDLR 7436 HP:0001263 Global developmental delay OMIM:224050 VLDLR 7436 HP:0001939 Abnormality of metabolism/homeostasis OMIM:224050 VLDLR 7436 HP:0002365 Hypoplasia of the brainstem OMIM:224050 VLDLR 7436 HP:0001249 Intellectual disability OMIM:224050 VLDLR 7436 HP:0002080 Intention tremor OMIM:224050 VLDLR 7436 HP:0002078 Truncal ataxia OMIM:224050 VLDLR 7436 HP:0001310 Dysmetria OMIM:224050 VLDLR 7436 HP:0002136 Broad-based gait OMIM:224050 VLDLR 7436 HP:0001347 Hyperreflexia OMIM:224050 VLDLR 7436 HP:0000486 Strabismus OMIM:181430 MYH7 4625 HP:0009054 Scapuloperoneal myopathy OMIM:181430 MYH7 4625 HP:0003458 EMG: myopathic abnormalities OMIM:181430 MYH7 4625 HP:0003677 Slow progression OMIM:181430 MYH7 4625 HP:0000006 Autosomal dominant inheritance OMIM:181430 MYH7 4625 HP:0030319 Weakness of facial musculature OMIM:309120 TEX11 56159 HP:0003251 Male infertility OMIM:309120 TEX11 56159 HP:0001939 Abnormality of metabolism/homeostasis OMIM:309120 TEX11 56159 HP:0000027 Azoospermia OMIM:606889 PSEN2 5664 HP:0011970 Cerebral amyloid angiopathy OMIM:606889 PSEN2 5664 HP:0003596 Middle age onset OMIM:606889 PSEN2 5664 HP:0006979 Sleep-wake cycle disturbance OMIM:606889 PSEN2 5664 HP:0000726 Dementia OMIM:606889 PSEN2 5664 HP:0002511 Alzheimer disease OMIM:606889 PSEN2 5664 HP:0000006 Autosomal dominant inheritance OMIM:166210 COL1A2 1278 HP:0001790 Nonimmune hydrops fetalis OMIM:166210 COL1A2 1278 HP:0000926 Platyspondyly OMIM:166210 COL1A2 1278 HP:0005622 Broad long bones OMIM:166210 COL1A2 1278 HP:0005623 Absent ossification of calvaria OMIM:166210 COL1A2 1278 HP:0010444 Pulmonary insufficiency OMIM:166210 COL1A2 1278 HP:0002757 Recurrent fractures OMIM:166210 COL1A2 1278 HP:0006367 Crumpled long bones OMIM:166210 COL1A2 1278 HP:0001518 Small for gestational age OMIM:166210 COL1A2 1278 HP:0002982 Tibial bowing OMIM:166210 COL1A2 1278 HP:0001622 Premature birth OMIM:166210 COL1A2 1278 HP:0008873 Disproportionate short-limb short stature OMIM:166210 COL1A2 1278 HP:0000006 Autosomal dominant inheritance OMIM:166210 COL1A2 1278 HP:0005855 Multiple prenatal fractures OMIM:166210 COL1A2 1278 HP:0000592 Blue sclerae OMIM:166210 COL1A2 1278 HP:0002645 Wormian bones OMIM:166210 COL1A2 1278 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:166210 COL1A2 1278 HP:0001635 Congestive heart failure OMIM:166210 COL1A2 1278 HP:0000239 Large fontanelles OMIM:166210 COL1A2 1278 HP:0000963 Thin skin OMIM:166210 COL1A2 1278 HP:0000444 Convex nasal ridge OMIM:166210 COL1A2 1278 HP:0000923 Beaded ribs OMIM:166210 COL1A2 1278 HP:0002093 Respiratory insufficiency OMIM:166210 COL1A1 1277 HP:0001790 Nonimmune hydrops fetalis OMIM:166210 COL1A1 1277 HP:0000926 Platyspondyly OMIM:166210 COL1A1 1277 HP:0005622 Broad long bones OMIM:166210 COL1A1 1277 HP:0005623 Absent ossification of calvaria OMIM:166210 COL1A1 1277 HP:0010444 Pulmonary insufficiency OMIM:166210 COL1A1 1277 HP:0002757 Recurrent fractures OMIM:166210 COL1A1 1277 HP:0006367 Crumpled long bones OMIM:166210 COL1A1 1277 HP:0001518 Small for gestational age OMIM:166210 COL1A1 1277 HP:0002982 Tibial bowing OMIM:166210 COL1A1 1277 HP:0001622 Premature birth OMIM:166210 COL1A1 1277 HP:0008873 Disproportionate short-limb short stature OMIM:166210 COL1A1 1277 HP:0000006 Autosomal dominant inheritance OMIM:166210 COL1A1 1277 HP:0005855 Multiple prenatal fractures OMIM:166210 COL1A1 1277 HP:0000592 Blue sclerae OMIM:166210 COL1A1 1277 HP:0002645 Wormian bones OMIM:166210 COL1A1 1277 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:166210 COL1A1 1277 HP:0001635 Congestive heart failure OMIM:166210 COL1A1 1277 HP:0000239 Large fontanelles OMIM:166210 COL1A1 1277 HP:0000963 Thin skin OMIM:166210 COL1A1 1277 HP:0000444 Convex nasal ridge OMIM:166210 COL1A1 1277 HP:0000923 Beaded ribs OMIM:166210 COL1A1 1277 HP:0002093 Respiratory insufficiency OMIM:137200 HINT1 3094 HP:0000007 Autosomal recessive inheritance OMIM:137200 HINT1 3094 HP:0002380 Fasciculations OMIM:137200 HINT1 3094 HP:0009027 Foot dorsiflexor weakness OMIM:137200 HINT1 3094 HP:0003552 Muscle stiffness OMIM:137200 HINT1 3094 HP:0003676 Progressive disorder OMIM:137200 HINT1 3094 HP:0003390 Sensory axonal neuropathy OMIM:137200 HINT1 3094 HP:0003394 Muscle cramps OMIM:137200 HINT1 3094 HP:0002411 Myokymia OMIM:137200 HINT1 3094 HP:0003236 Elevated serum creatine phosphokinase OMIM:137200 HINT1 3094 HP:0000975 Hyperhidrosis OMIM:137200 HINT1 3094 HP:0002486 Myotonia OMIM:137200 HINT1 3094 HP:0003202 Skeletal muscle atrophy OMIM:137200 HINT1 3094 HP:0001760 Abnormality of the foot OMIM:613820 TTC21B 79809 HP:0000007 Autosomal recessive inheritance OMIM:613820 TTC21B 79809 HP:0003774 Stage 5 chronic kidney disease OMIM:613820 TTC21B 79809 HP:0000090 Nephronophthisis OMIM:159900 SGCE 8910 HP:0003621 Juvenile onset OMIM:159900 SGCE 8910 HP:0001336 Myoclonus OMIM:159900 SGCE 8910 HP:0000006 Autosomal dominant inheritance OMIM:159900 SGCE 8910 HP:0000473 Torticollis OMIM:159900 SGCE 8910 HP:0001252 Muscular hypotonia OMIM:159900 SGCE 8910 HP:0003829 Incomplete penetrance OMIM:159900 SGCE 8910 HP:0000722 Obsessive-compulsive behavior OMIM:159900 SGCE 8910 HP:0000716 Depression OMIM:159900 SGCE 8910 HP:0001337 Tremor OMIM:159900 SGCE 8910 HP:0000739 Anxiety OMIM:159900 SGCE 8910 HP:0000756 Agoraphobia OMIM:159900 SGCE 8910 HP:0002356 Writer's cramp OMIM:159900 DRD2 1813 HP:0003621 Juvenile onset OMIM:159900 DRD2 1813 HP:0001336 Myoclonus OMIM:159900 DRD2 1813 HP:0000006 Autosomal dominant inheritance OMIM:159900 DRD2 1813 HP:0000473 Torticollis OMIM:159900 DRD2 1813 HP:0001252 Muscular hypotonia OMIM:159900 DRD2 1813 HP:0003829 Incomplete penetrance OMIM:159900 DRD2 1813 HP:0000722 Obsessive-compulsive behavior OMIM:159900 DRD2 1813 HP:0000716 Depression OMIM:159900 DRD2 1813 HP:0001337 Tremor OMIM:159900 DRD2 1813 HP:0000739 Anxiety OMIM:159900 DRD2 1813 HP:0000756 Agoraphobia OMIM:159900 DRD2 1813 HP:0002356 Writer's cramp ORPHANET:3460 MMP2 4313 HP:0005105 Abnormal nasal morphology ORPHANET:3460 MMP2 4313 HP:0000212 Gingival overgrowth ORPHANET:3460 MMP2 4313 HP:0003019 Abnormality of the wrist ORPHANET:3460 MMP2 4313 HP:0000944 Abnormality of the metaphyses ORPHANET:3460 MMP2 4313 HP:0004349 Reduced bone mineral density ORPHANET:3460 MMP2 4313 HP:0007759 Opacification of the corneal stroma ORPHANET:3460 MMP2 4313 HP:0001072 Thickened skin ORPHANET:3460 MMP2 4313 HP:0007400 Irregular hyperpigmentation ORPHANET:3460 MMP2 4313 HP:0000179 Thick lower lip vermilion ORPHANET:3460 MMP2 4313 HP:0008368 Tarsal synostosis ORPHANET:3460 MMP2 4313 HP:0001376 Limitation of joint mobility ORPHANET:3460 MMP2 4313 HP:0001369 Arthritis ORPHANET:3460 MMP2 4313 HP:0000280 Coarse facial features ORPHANET:3460 MMP2 4313 HP:0002797 Osteolysis ORPHANET:3460 MMP2 4313 HP:0000998 Hypertrichosis ORPHANET:3460 MMP2 4313 HP:0001631 Defect in the atrial septum ORPHANET:3460 MMP2 4313 HP:0004322 Short stature ORPHANET:3460 MMP2 4313 HP:0002007 Frontal bossing ORPHANET:3460 MMP2 4313 HP:0005930 Abnormality of epiphysis morphology ORPHANET:3460 MMP14 4323 HP:0005105 Abnormal nasal morphology ORPHANET:3460 MMP14 4323 HP:0000212 Gingival overgrowth ORPHANET:3460 MMP14 4323 HP:0003019 Abnormality of the wrist ORPHANET:3460 MMP14 4323 HP:0000944 Abnormality of the metaphyses ORPHANET:3460 MMP14 4323 HP:0004349 Reduced bone mineral density ORPHANET:3460 MMP14 4323 HP:0007759 Opacification of the corneal stroma ORPHANET:3460 MMP14 4323 HP:0001072 Thickened skin ORPHANET:3460 MMP14 4323 HP:0007400 Irregular hyperpigmentation ORPHANET:3460 MMP14 4323 HP:0000179 Thick lower lip vermilion ORPHANET:3460 MMP14 4323 HP:0008368 Tarsal synostosis ORPHANET:3460 MMP14 4323 HP:0001376 Limitation of joint mobility ORPHANET:3460 MMP14 4323 HP:0001369 Arthritis ORPHANET:3460 MMP14 4323 HP:0000280 Coarse facial features ORPHANET:3460 MMP14 4323 HP:0002797 Osteolysis ORPHANET:3460 MMP14 4323 HP:0000998 Hypertrichosis ORPHANET:3460 MMP14 4323 HP:0001631 Defect in the atrial septum ORPHANET:3460 MMP14 4323 HP:0004322 Short stature ORPHANET:3460 MMP14 4323 HP:0002007 Frontal bossing ORPHANET:3460 MMP14 4323 HP:0005930 Abnormality of epiphysis morphology OMIM:613690 TNNI3 7137 HP:0001638 Cardiomyopathy OMIM:613690 TNNI3 7137 HP:0005110 Atrial fibrillation OMIM:613690 TNNI3 7137 HP:0000006 Autosomal dominant inheritance OMIM:613690 TNNI3 7137 HP:0001714 Ventricular hypertrophy OMIM:614158 TBXAS1 6916 HP:0000006 Autosomal dominant inheritance OMIM:614158 TBXAS1 6916 HP:0003010 Prolonged bleeding time OMIM:614158 TBXAS1 6916 HP:0000978 Bruising susceptibility OMIM:614158 TBXAS1 6916 HP:0000421 Epistaxis OMIM:610092 VSX2 338917 HP:0000568 Microphthalmos OMIM:610092 VSX2 338917 HP:0000007 Autosomal recessive inheritance OMIM:610092 VSX2 338917 HP:0000589 Coloboma OMIM:610092 VSX2 338917 HP:0000518 Cataract OMIM:609115 HNRNPDL 9987 HP:0003236 Elevated serum creatine phosphokinase OMIM:609115 HNRNPDL 9987 HP:0003677 Slow progression OMIM:609115 HNRNPDL 9987 HP:0003581 Adult onset OMIM:609115 HNRNPDL 9987 HP:0003198 Myopathy OMIM:609115 HNRNPDL 9987 HP:0003749 Pelvic girdle muscle weakness OMIM:609115 HNRNPDL 9987 HP:0008948 Proximal upper limb amyotrophy OMIM:609115 HNRNPDL 9987 HP:0008116 Flexion limitation of toes OMIM:609115 HNRNPDL 9987 HP:0003547 Shoulder girdle muscle weakness OMIM:609115 HNRNPDL 9987 HP:0003805 Rimmed vacuoles OMIM:609115 HNRNPDL 9987 HP:0000006 Autosomal dominant inheritance OMIM:609115 HNRNPDL 9987 HP:0006203 Decreased movement range in interphalangeal joints OMIM:609115 HNRNPDL 9987 HP:0000518 Cataract OMIM:609115 HNRNPDL 9987 HP:0006785 Limb-girdle muscular dystrophy OMIM:609115 HNRNPDL 9987 HP:0008956 Proximal lower limb amyotrophy OMIM:132400 COMP 1311 HP:0002829 Arthralgia OMIM:132400 COMP 1311 HP:0002515 Waddling gait OMIM:132400 COMP 1311 HP:0003502 Mild short stature OMIM:132400 COMP 1311 HP:0002761 Generalized joint laxity OMIM:132400 COMP 1311 HP:0002663 Delayed epiphyseal ossification OMIM:132400 COMP 1311 HP:0008800 Limited hip movement OMIM:132400 COMP 1311 HP:0002656 Epiphyseal dysplasia OMIM:132400 COMP 1311 HP:0005743 Avascular necrosis of the capital femoral epiphysis OMIM:132400 COMP 1311 HP:0010585 Small epiphyses OMIM:132400 COMP 1311 HP:0003272 Abnormality of the hip bone OMIM:132400 COMP 1311 HP:0006429 Broad femoral neck OMIM:132400 COMP 1311 HP:0008873 Disproportionate short-limb short stature OMIM:132400 COMP 1311 HP:0010049 Short metacarpal OMIM:132400 COMP 1311 HP:0100864 Short femoral neck OMIM:132400 COMP 1311 HP:0001156 Brachydactyly syndrome OMIM:132400 COMP 1311 HP:0009803 Short phalanx of finger OMIM:132400 COMP 1311 HP:0003301 Irregular vertebral endplates OMIM:132400 COMP 1311 HP:0002857 Genu valgum OMIM:132400 COMP 1311 HP:0003300 Ovoid vertebral bodies OMIM:132400 COMP 1311 HP:0008843 Hip osteoarthritis OMIM:132400 COMP 1311 HP:0010582 Irregular epiphyses OMIM:132400 COMP 1311 HP:0002983 Micromelia OMIM:132400 COMP 1311 HP:0002970 Genu varum OMIM:132400 COMP 1311 HP:0001387 Joint stiffness OMIM:132400 COMP 1311 HP:0000006 Autosomal dominant inheritance OMIM:614962 LEP 3952 HP:0008734 Decreased testicular size OMIM:614962 LEP 3952 HP:0003292 Decreased serum leptin OMIM:614962 LEP 3952 HP:0000771 Gynecomastia OMIM:614962 LEP 3952 HP:0000054 Micropenis OMIM:614962 LEP 3952 HP:0002788 Recurrent upper respiratory tract infections OMIM:614962 LEP 3952 HP:0000135 Hypogonadism OMIM:614962 LEP 3952 HP:0006532 Recurrent pneumonia OMIM:614962 LEP 3952 HP:0002591 Polyphagia OMIM:614962 LEP 3952 HP:0001513 Obesity OMIM:614962 LEP 3952 HP:0000786 Primary amenorrhea OMIM:610153 MARVELD2 153562 HP:0000007 Autosomal recessive inheritance OMIM:610153 MARVELD2 153562 HP:0000399 Prelingual sensorineural hearing impairment OMIM:614876 PEX16 9409 HP:0008935 Generalized neonatal hypotonia OMIM:614876 PEX16 9409 HP:0002240 Hepatomegaly OMIM:614876 PEX16 9409 HP:0000007 Autosomal recessive inheritance OMIM:614876 PEX16 9409 HP:0008872 Feeding difficulties in infancy OMIM:614876 PEX16 9409 HP:0001629 Ventricular septal defect OMIM:614876 PEX16 9409 HP:0001522 Death in infancy OMIM:614876 PEX16 9409 HP:0011344 Severe global developmental delay OMIM:614876 PEX16 9409 HP:0010655 Epiphyseal stippling OMIM:614876 PEX16 9409 HP:0001250 Seizures OMIM:167210 KRT17 3872 HP:0001425 Heterogeneous OMIM:167210 KRT17 3872 HP:0002164 Nail dysplasia OMIM:167210 KRT17 3872 HP:0008404 Nail dystrophy OMIM:167210 KRT17 3872 HP:0200040 Epidermoid cyst OMIM:167210 KRT17 3872 HP:0000972 Palmoplantar hyperkeratosis OMIM:167210 KRT17 3872 HP:0000006 Autosomal dominant inheritance OMIM:167210 KRT17 3872 HP:0000535 Sparse eyebrow OMIM:167210 KRT17 3872 HP:0011359 Dry hair OMIM:167210 KRT17 3872 HP:0007410 Palmoplantar hyperhidrosis OMIM:167210 KRT17 3872 HP:0008392 Subungual hyperkeratosis OMIM:167210 KRT17 3872 HP:0012035 Steatocystoma multiplex OMIM:167210 KRT17 3872 HP:0000695 Natal tooth OMIM:167210 KRT17 3872 HP:0001609 Hoarse voice OMIM:167210 KRT17 3872 HP:0002209 Sparse scalp hair OMIM:615059 SNRPE 6635 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:615059 SNRPE 6635 HP:0200102 Sparse or absent eyelashes OMIM:615059 SNRPE 6635 HP:0002221 Absent axillary hair OMIM:615059 SNRPE 6635 HP:0000006 Autosomal dominant inheritance OMIM:615059 SNRPE 6635 HP:0001006 Hypotrichosis OMIM:127400 ADAR 103 HP:0001053 Hypopigmented skin patches OMIM:127400 ADAR 103 HP:0003593 Infantile onset OMIM:127400 ADAR 103 HP:0000006 Autosomal dominant inheritance OMIM:127400 ADAR 103 HP:0007441 Hyperpigmented/hypopigmented macules OMIM:127400 ADAR 103 HP:0001034 Hypermelanotic macule OMIM:272750 GM2A 2760 HP:0000741 Apathy OMIM:272750 GM2A 2760 HP:0003495 GM2-ganglioside accumulation OMIM:272750 GM2A 2760 HP:0001276 Hypertonia OMIM:272750 GM2A 2760 HP:0000007 Autosomal recessive inheritance OMIM:272750 GM2A 2760 HP:0001263 Global developmental delay OMIM:272750 GM2A 2760 HP:0002835 Aspiration OMIM:272750 GM2A 2760 HP:0001250 Seizures OMIM:272750 GM2A 2760 HP:0001252 Muscular hypotonia OMIM:272750 GM2A 2760 HP:0002421 Poor head control OMIM:272750 GM2A 2760 HP:0000618 Blindness OMIM:272750 GM2A 2760 HP:0000726 Dementia OMIM:272750 GM2A 2760 HP:0003470 Paralysis OMIM:272750 GM2A 2760 HP:0002267 Exaggerated startle response ORPHANET:110 MKKS 8195 HP:0000998 Hypertrichosis ORPHANET:110 MKKS 8195 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:110 MKKS 8195 HP:0000470 Short neck ORPHANET:110 MKKS 8195 HP:0100543 Cognitive impairment ORPHANET:110 MKKS 8195 HP:0008736 Hypoplasia of penis ORPHANET:110 MKKS 8195 HP:0001162 Postaxial hand polydactyly ORPHANET:110 MKKS 8195 HP:0010747 Medial flaring of the eyebrow ORPHANET:110 MKKS 8195 HP:0000639 Nystagmus ORPHANET:110 MKKS 8195 HP:0000100 Nephrotic syndrome ORPHANET:110 MKKS 8195 HP:0000494 Downslanted palpebral fissures ORPHANET:110 MKKS 8195 HP:0004322 Short stature ORPHANET:110 MKKS 8195 HP:0000426 Prominent nasal bridge ORPHANET:110 MKKS 8195 HP:0000512 Abnormal electroretinogram ORPHANET:110 MKKS 8195 HP:0000028 Cryptorchidism ORPHANET:110 MKKS 8195 HP:0000365 Hearing impairment ORPHANET:110 MKKS 8195 HP:0001513 Obesity ORPHANET:110 MKKS 8195 HP:0000147 Polycystic ovaries ORPHANET:110 MKKS 8195 HP:0006101 Finger syndactyly ORPHANET:110 MKKS 8195 HP:0007703 Abnormal retinal pigmentation ORPHANET:110 MKKS 8195 HP:0000822 Hypertension ORPHANET:110 MKKS 8195 HP:0002167 Neurological speech impairment ORPHANET:110 MKKS 8195 HP:0001399 Hepatic failure ORPHANET:110 MKKS 8195 HP:0000003 Multicystic kidney dysplasia ORPHANET:110 SDCCAG8 10806 HP:0000998 Hypertrichosis ORPHANET:110 SDCCAG8 10806 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:110 SDCCAG8 10806 HP:0000470 Short neck ORPHANET:110 SDCCAG8 10806 HP:0100543 Cognitive impairment ORPHANET:110 SDCCAG8 10806 HP:0008736 Hypoplasia of penis ORPHANET:110 SDCCAG8 10806 HP:0001162 Postaxial hand polydactyly ORPHANET:110 SDCCAG8 10806 HP:0010747 Medial flaring of the eyebrow ORPHANET:110 SDCCAG8 10806 HP:0000639 Nystagmus ORPHANET:110 SDCCAG8 10806 HP:0000100 Nephrotic syndrome ORPHANET:110 SDCCAG8 10806 HP:0000494 Downslanted palpebral fissures ORPHANET:110 SDCCAG8 10806 HP:0004322 Short stature ORPHANET:110 SDCCAG8 10806 HP:0000426 Prominent nasal bridge ORPHANET:110 SDCCAG8 10806 HP:0000512 Abnormal electroretinogram ORPHANET:110 SDCCAG8 10806 HP:0000028 Cryptorchidism ORPHANET:110 SDCCAG8 10806 HP:0000365 Hearing impairment ORPHANET:110 SDCCAG8 10806 HP:0001513 Obesity ORPHANET:110 SDCCAG8 10806 HP:0000147 Polycystic ovaries ORPHANET:110 SDCCAG8 10806 HP:0006101 Finger syndactyly ORPHANET:110 SDCCAG8 10806 HP:0007703 Abnormal retinal pigmentation ORPHANET:110 SDCCAG8 10806 HP:0000822 Hypertension ORPHANET:110 SDCCAG8 10806 HP:0002167 Neurological speech impairment ORPHANET:110 SDCCAG8 10806 HP:0001399 Hepatic failure ORPHANET:110 SDCCAG8 10806 HP:0000003 Multicystic kidney dysplasia ORPHANET:110 WDPCP 51057 HP:0000998 Hypertrichosis ORPHANET:110 WDPCP 51057 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:110 WDPCP 51057 HP:0000470 Short neck ORPHANET:110 WDPCP 51057 HP:0100543 Cognitive impairment ORPHANET:110 WDPCP 51057 HP:0008736 Hypoplasia of penis ORPHANET:110 WDPCP 51057 HP:0001162 Postaxial hand polydactyly ORPHANET:110 WDPCP 51057 HP:0010747 Medial flaring of the eyebrow ORPHANET:110 WDPCP 51057 HP:0000639 Nystagmus ORPHANET:110 WDPCP 51057 HP:0000100 Nephrotic syndrome ORPHANET:110 WDPCP 51057 HP:0000494 Downslanted palpebral fissures ORPHANET:110 WDPCP 51057 HP:0004322 Short stature ORPHANET:110 WDPCP 51057 HP:0000426 Prominent nasal bridge ORPHANET:110 WDPCP 51057 HP:0000512 Abnormal electroretinogram ORPHANET:110 WDPCP 51057 HP:0000028 Cryptorchidism ORPHANET:110 WDPCP 51057 HP:0000365 Hearing impairment ORPHANET:110 WDPCP 51057 HP:0001513 Obesity ORPHANET:110 WDPCP 51057 HP:0000147 Polycystic ovaries ORPHANET:110 WDPCP 51057 HP:0006101 Finger syndactyly ORPHANET:110 WDPCP 51057 HP:0007703 Abnormal retinal pigmentation ORPHANET:110 WDPCP 51057 HP:0000822 Hypertension ORPHANET:110 WDPCP 51057 HP:0002167 Neurological speech impairment ORPHANET:110 WDPCP 51057 HP:0001399 Hepatic failure ORPHANET:110 WDPCP 51057 HP:0000003 Multicystic kidney dysplasia ORPHANET:110 BBS5 129880 HP:0000998 Hypertrichosis ORPHANET:110 BBS5 129880 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:110 BBS5 129880 HP:0000470 Short neck ORPHANET:110 BBS5 129880 HP:0100543 Cognitive impairment ORPHANET:110 BBS5 129880 HP:0008736 Hypoplasia of penis ORPHANET:110 BBS5 129880 HP:0001162 Postaxial hand polydactyly ORPHANET:110 BBS5 129880 HP:0010747 Medial flaring of the eyebrow ORPHANET:110 BBS5 129880 HP:0000639 Nystagmus ORPHANET:110 BBS5 129880 HP:0000100 Nephrotic syndrome ORPHANET:110 BBS5 129880 HP:0000494 Downslanted palpebral fissures ORPHANET:110 BBS5 129880 HP:0004322 Short stature ORPHANET:110 BBS5 129880 HP:0000426 Prominent nasal bridge ORPHANET:110 BBS5 129880 HP:0000512 Abnormal electroretinogram ORPHANET:110 BBS5 129880 HP:0000028 Cryptorchidism ORPHANET:110 BBS5 129880 HP:0000365 Hearing impairment ORPHANET:110 BBS5 129880 HP:0001513 Obesity ORPHANET:110 BBS5 129880 HP:0000147 Polycystic ovaries ORPHANET:110 BBS5 129880 HP:0006101 Finger syndactyly ORPHANET:110 BBS5 129880 HP:0007703 Abnormal retinal pigmentation ORPHANET:110 BBS5 129880 HP:0000822 Hypertension ORPHANET:110 BBS5 129880 HP:0002167 Neurological speech impairment ORPHANET:110 BBS5 129880 HP:0001399 Hepatic failure ORPHANET:110 BBS5 129880 HP:0000003 Multicystic kidney dysplasia ORPHANET:110 BBS1 582 HP:0000998 Hypertrichosis ORPHANET:110 BBS1 582 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:110 BBS1 582 HP:0000470 Short neck ORPHANET:110 BBS1 582 HP:0100543 Cognitive impairment ORPHANET:110 BBS1 582 HP:0008736 Hypoplasia of penis ORPHANET:110 BBS1 582 HP:0001162 Postaxial hand polydactyly ORPHANET:110 BBS1 582 HP:0010747 Medial flaring of the eyebrow ORPHANET:110 BBS1 582 HP:0000639 Nystagmus ORPHANET:110 BBS1 582 HP:0000100 Nephrotic syndrome ORPHANET:110 BBS1 582 HP:0000494 Downslanted palpebral fissures ORPHANET:110 BBS1 582 HP:0004322 Short stature ORPHANET:110 BBS1 582 HP:0000426 Prominent nasal bridge ORPHANET:110 BBS1 582 HP:0000512 Abnormal electroretinogram ORPHANET:110 BBS1 582 HP:0000028 Cryptorchidism ORPHANET:110 BBS1 582 HP:0000365 Hearing impairment ORPHANET:110 BBS1 582 HP:0001513 Obesity ORPHANET:110 BBS1 582 HP:0000147 Polycystic ovaries ORPHANET:110 BBS1 582 HP:0006101 Finger syndactyly ORPHANET:110 BBS1 582 HP:0007703 Abnormal retinal pigmentation ORPHANET:110 BBS1 582 HP:0000822 Hypertension ORPHANET:110 BBS1 582 HP:0002167 Neurological speech impairment ORPHANET:110 BBS1 582 HP:0001399 Hepatic failure ORPHANET:110 BBS1 582 HP:0000003 Multicystic kidney dysplasia ORPHANET:110 TRIM32 22954 HP:0000998 Hypertrichosis ORPHANET:110 TRIM32 22954 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:110 TRIM32 22954 HP:0000470 Short neck ORPHANET:110 TRIM32 22954 HP:0100543 Cognitive impairment ORPHANET:110 TRIM32 22954 HP:0008736 Hypoplasia of penis ORPHANET:110 TRIM32 22954 HP:0001162 Postaxial hand polydactyly ORPHANET:110 TRIM32 22954 HP:0010747 Medial flaring of the eyebrow ORPHANET:110 TRIM32 22954 HP:0000639 Nystagmus ORPHANET:110 TRIM32 22954 HP:0000100 Nephrotic syndrome ORPHANET:110 TRIM32 22954 HP:0000494 Downslanted palpebral fissures ORPHANET:110 TRIM32 22954 HP:0004322 Short stature ORPHANET:110 TRIM32 22954 HP:0000426 Prominent nasal bridge ORPHANET:110 TRIM32 22954 HP:0000512 Abnormal electroretinogram ORPHANET:110 TRIM32 22954 HP:0000028 Cryptorchidism ORPHANET:110 TRIM32 22954 HP:0000365 Hearing impairment ORPHANET:110 TRIM32 22954 HP:0001513 Obesity ORPHANET:110 TRIM32 22954 HP:0000147 Polycystic ovaries ORPHANET:110 TRIM32 22954 HP:0006101 Finger syndactyly ORPHANET:110 TRIM32 22954 HP:0007703 Abnormal retinal pigmentation ORPHANET:110 TRIM32 22954 HP:0000822 Hypertension ORPHANET:110 TRIM32 22954 HP:0002167 Neurological speech impairment ORPHANET:110 TRIM32 22954 HP:0001399 Hepatic failure ORPHANET:110 TRIM32 22954 HP:0000003 Multicystic kidney dysplasia ORPHANET:110 BBS2 583 HP:0000998 Hypertrichosis ORPHANET:110 BBS2 583 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:110 BBS2 583 HP:0000470 Short neck ORPHANET:110 BBS2 583 HP:0100543 Cognitive impairment ORPHANET:110 BBS2 583 HP:0008736 Hypoplasia of penis ORPHANET:110 BBS2 583 HP:0001162 Postaxial hand polydactyly ORPHANET:110 BBS2 583 HP:0010747 Medial flaring of the eyebrow ORPHANET:110 BBS2 583 HP:0000639 Nystagmus ORPHANET:110 BBS2 583 HP:0000100 Nephrotic syndrome ORPHANET:110 BBS2 583 HP:0000494 Downslanted palpebral fissures ORPHANET:110 BBS2 583 HP:0004322 Short stature ORPHANET:110 BBS2 583 HP:0000426 Prominent nasal bridge ORPHANET:110 BBS2 583 HP:0000512 Abnormal electroretinogram ORPHANET:110 BBS2 583 HP:0000028 Cryptorchidism ORPHANET:110 BBS2 583 HP:0000365 Hearing impairment ORPHANET:110 BBS2 583 HP:0001513 Obesity ORPHANET:110 BBS2 583 HP:0000147 Polycystic ovaries ORPHANET:110 BBS2 583 HP:0006101 Finger syndactyly ORPHANET:110 BBS2 583 HP:0007703 Abnormal retinal pigmentation ORPHANET:110 BBS2 583 HP:0000822 Hypertension ORPHANET:110 BBS2 583 HP:0002167 Neurological speech impairment ORPHANET:110 BBS2 583 HP:0001399 Hepatic failure ORPHANET:110 BBS2 583 HP:0000003 Multicystic kidney dysplasia ORPHANET:110 IFT27 11020 HP:0000998 Hypertrichosis ORPHANET:110 IFT27 11020 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:110 IFT27 11020 HP:0000470 Short neck ORPHANET:110 IFT27 11020 HP:0100543 Cognitive impairment ORPHANET:110 IFT27 11020 HP:0008736 Hypoplasia of penis ORPHANET:110 IFT27 11020 HP:0001162 Postaxial hand polydactyly ORPHANET:110 IFT27 11020 HP:0010747 Medial flaring of the eyebrow ORPHANET:110 IFT27 11020 HP:0000639 Nystagmus ORPHANET:110 IFT27 11020 HP:0000100 Nephrotic syndrome ORPHANET:110 IFT27 11020 HP:0000494 Downslanted palpebral fissures ORPHANET:110 IFT27 11020 HP:0004322 Short stature ORPHANET:110 IFT27 11020 HP:0000426 Prominent nasal bridge ORPHANET:110 IFT27 11020 HP:0000512 Abnormal electroretinogram ORPHANET:110 IFT27 11020 HP:0000028 Cryptorchidism ORPHANET:110 IFT27 11020 HP:0000365 Hearing impairment ORPHANET:110 IFT27 11020 HP:0001513 Obesity ORPHANET:110 IFT27 11020 HP:0000147 Polycystic ovaries ORPHANET:110 IFT27 11020 HP:0006101 Finger syndactyly ORPHANET:110 IFT27 11020 HP:0007703 Abnormal retinal pigmentation ORPHANET:110 IFT27 11020 HP:0000822 Hypertension ORPHANET:110 IFT27 11020 HP:0002167 Neurological speech impairment ORPHANET:110 IFT27 11020 HP:0001399 Hepatic failure ORPHANET:110 IFT27 11020 HP:0000003 Multicystic kidney dysplasia ORPHANET:110 ARL6 84100 HP:0000998 Hypertrichosis ORPHANET:110 ARL6 84100 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:110 ARL6 84100 HP:0000470 Short neck ORPHANET:110 ARL6 84100 HP:0100543 Cognitive impairment ORPHANET:110 ARL6 84100 HP:0008736 Hypoplasia of penis ORPHANET:110 ARL6 84100 HP:0001162 Postaxial hand polydactyly ORPHANET:110 ARL6 84100 HP:0010747 Medial flaring of the eyebrow ORPHANET:110 ARL6 84100 HP:0000639 Nystagmus ORPHANET:110 ARL6 84100 HP:0000100 Nephrotic syndrome ORPHANET:110 ARL6 84100 HP:0000494 Downslanted palpebral fissures ORPHANET:110 ARL6 84100 HP:0004322 Short stature ORPHANET:110 ARL6 84100 HP:0000426 Prominent nasal bridge ORPHANET:110 ARL6 84100 HP:0000512 Abnormal electroretinogram ORPHANET:110 ARL6 84100 HP:0000028 Cryptorchidism ORPHANET:110 ARL6 84100 HP:0000365 Hearing impairment ORPHANET:110 ARL6 84100 HP:0001513 Obesity ORPHANET:110 ARL6 84100 HP:0000147 Polycystic ovaries ORPHANET:110 ARL6 84100 HP:0006101 Finger syndactyly ORPHANET:110 ARL6 84100 HP:0007703 Abnormal retinal pigmentation ORPHANET:110 ARL6 84100 HP:0000822 Hypertension ORPHANET:110 ARL6 84100 HP:0002167 Neurological speech impairment ORPHANET:110 ARL6 84100 HP:0001399 Hepatic failure ORPHANET:110 ARL6 84100 HP:0000003 Multicystic kidney dysplasia ORPHANET:110 BBS4 585 HP:0000998 Hypertrichosis ORPHANET:110 BBS4 585 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:110 BBS4 585 HP:0000470 Short neck ORPHANET:110 BBS4 585 HP:0100543 Cognitive impairment ORPHANET:110 BBS4 585 HP:0008736 Hypoplasia of penis ORPHANET:110 BBS4 585 HP:0001162 Postaxial hand polydactyly ORPHANET:110 BBS4 585 HP:0010747 Medial flaring of the eyebrow ORPHANET:110 BBS4 585 HP:0000639 Nystagmus ORPHANET:110 BBS4 585 HP:0000100 Nephrotic syndrome ORPHANET:110 BBS4 585 HP:0000494 Downslanted palpebral fissures ORPHANET:110 BBS4 585 HP:0004322 Short stature ORPHANET:110 BBS4 585 HP:0000426 Prominent nasal bridge ORPHANET:110 BBS4 585 HP:0000512 Abnormal electroretinogram ORPHANET:110 BBS4 585 HP:0000028 Cryptorchidism ORPHANET:110 BBS4 585 HP:0000365 Hearing impairment ORPHANET:110 BBS4 585 HP:0001513 Obesity ORPHANET:110 BBS4 585 HP:0000147 Polycystic ovaries ORPHANET:110 BBS4 585 HP:0006101 Finger syndactyly ORPHANET:110 BBS4 585 HP:0007703 Abnormal retinal pigmentation ORPHANET:110 BBS4 585 HP:0000822 Hypertension ORPHANET:110 BBS4 585 HP:0002167 Neurological speech impairment ORPHANET:110 BBS4 585 HP:0001399 Hepatic failure ORPHANET:110 BBS4 585 HP:0000003 Multicystic kidney dysplasia ORPHANET:110 CEP290 80184 HP:0000998 Hypertrichosis ORPHANET:110 CEP290 80184 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:110 CEP290 80184 HP:0000470 Short neck ORPHANET:110 CEP290 80184 HP:0100543 Cognitive impairment ORPHANET:110 CEP290 80184 HP:0008736 Hypoplasia of penis ORPHANET:110 CEP290 80184 HP:0001162 Postaxial hand polydactyly ORPHANET:110 CEP290 80184 HP:0010747 Medial flaring of the eyebrow ORPHANET:110 CEP290 80184 HP:0000639 Nystagmus ORPHANET:110 CEP290 80184 HP:0000100 Nephrotic syndrome ORPHANET:110 CEP290 80184 HP:0000494 Downslanted palpebral fissures ORPHANET:110 CEP290 80184 HP:0004322 Short stature ORPHANET:110 CEP290 80184 HP:0000426 Prominent nasal bridge ORPHANET:110 CEP290 80184 HP:0000512 Abnormal electroretinogram ORPHANET:110 CEP290 80184 HP:0000028 Cryptorchidism ORPHANET:110 CEP290 80184 HP:0000365 Hearing impairment ORPHANET:110 CEP290 80184 HP:0001513 Obesity ORPHANET:110 CEP290 80184 HP:0000147 Polycystic ovaries ORPHANET:110 CEP290 80184 HP:0006101 Finger syndactyly ORPHANET:110 CEP290 80184 HP:0007703 Abnormal retinal pigmentation ORPHANET:110 CEP290 80184 HP:0000822 Hypertension ORPHANET:110 CEP290 80184 HP:0002167 Neurological speech impairment ORPHANET:110 CEP290 80184 HP:0001399 Hepatic failure ORPHANET:110 CEP290 80184 HP:0000003 Multicystic kidney dysplasia ORPHANET:110 BBS12 166379 HP:0000998 Hypertrichosis ORPHANET:110 BBS12 166379 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:110 BBS12 166379 HP:0000470 Short neck ORPHANET:110 BBS12 166379 HP:0100543 Cognitive impairment ORPHANET:110 BBS12 166379 HP:0008736 Hypoplasia of penis ORPHANET:110 BBS12 166379 HP:0001162 Postaxial hand polydactyly ORPHANET:110 BBS12 166379 HP:0010747 Medial flaring of the eyebrow ORPHANET:110 BBS12 166379 HP:0000639 Nystagmus ORPHANET:110 BBS12 166379 HP:0000100 Nephrotic syndrome ORPHANET:110 BBS12 166379 HP:0000494 Downslanted palpebral fissures ORPHANET:110 BBS12 166379 HP:0004322 Short stature ORPHANET:110 BBS12 166379 HP:0000426 Prominent nasal bridge ORPHANET:110 BBS12 166379 HP:0000512 Abnormal electroretinogram ORPHANET:110 BBS12 166379 HP:0000028 Cryptorchidism ORPHANET:110 BBS12 166379 HP:0000365 Hearing impairment ORPHANET:110 BBS12 166379 HP:0001513 Obesity ORPHANET:110 BBS12 166379 HP:0000147 Polycystic ovaries ORPHANET:110 BBS12 166379 HP:0006101 Finger syndactyly ORPHANET:110 BBS12 166379 HP:0007703 Abnormal retinal pigmentation ORPHANET:110 BBS12 166379 HP:0000822 Hypertension ORPHANET:110 BBS12 166379 HP:0002167 Neurological speech impairment ORPHANET:110 BBS12 166379 HP:0001399 Hepatic failure ORPHANET:110 BBS12 166379 HP:0000003 Multicystic kidney dysplasia ORPHANET:110 LZTFL1 54585 HP:0000998 Hypertrichosis ORPHANET:110 LZTFL1 54585 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:110 LZTFL1 54585 HP:0000470 Short neck ORPHANET:110 LZTFL1 54585 HP:0100543 Cognitive impairment ORPHANET:110 LZTFL1 54585 HP:0008736 Hypoplasia of penis ORPHANET:110 LZTFL1 54585 HP:0001162 Postaxial hand polydactyly ORPHANET:110 LZTFL1 54585 HP:0010747 Medial flaring of the eyebrow ORPHANET:110 LZTFL1 54585 HP:0000639 Nystagmus ORPHANET:110 LZTFL1 54585 HP:0000100 Nephrotic syndrome ORPHANET:110 LZTFL1 54585 HP:0000494 Downslanted palpebral fissures ORPHANET:110 LZTFL1 54585 HP:0004322 Short stature ORPHANET:110 LZTFL1 54585 HP:0000426 Prominent nasal bridge ORPHANET:110 LZTFL1 54585 HP:0000512 Abnormal electroretinogram ORPHANET:110 LZTFL1 54585 HP:0000028 Cryptorchidism ORPHANET:110 LZTFL1 54585 HP:0000365 Hearing impairment ORPHANET:110 LZTFL1 54585 HP:0001513 Obesity ORPHANET:110 LZTFL1 54585 HP:0000147 Polycystic ovaries ORPHANET:110 LZTFL1 54585 HP:0006101 Finger syndactyly ORPHANET:110 LZTFL1 54585 HP:0007703 Abnormal retinal pigmentation ORPHANET:110 LZTFL1 54585 HP:0000822 Hypertension ORPHANET:110 LZTFL1 54585 HP:0002167 Neurological speech impairment ORPHANET:110 LZTFL1 54585 HP:0001399 Hepatic failure ORPHANET:110 LZTFL1 54585 HP:0000003 Multicystic kidney dysplasia ORPHANET:110 MKS1 54903 HP:0000998 Hypertrichosis ORPHANET:110 MKS1 54903 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:110 MKS1 54903 HP:0000470 Short neck ORPHANET:110 MKS1 54903 HP:0100543 Cognitive impairment ORPHANET:110 MKS1 54903 HP:0008736 Hypoplasia of penis ORPHANET:110 MKS1 54903 HP:0001162 Postaxial hand polydactyly ORPHANET:110 MKS1 54903 HP:0010747 Medial flaring of the eyebrow ORPHANET:110 MKS1 54903 HP:0000639 Nystagmus ORPHANET:110 MKS1 54903 HP:0000100 Nephrotic syndrome ORPHANET:110 MKS1 54903 HP:0000494 Downslanted palpebral fissures ORPHANET:110 MKS1 54903 HP:0004322 Short stature ORPHANET:110 MKS1 54903 HP:0000426 Prominent nasal bridge ORPHANET:110 MKS1 54903 HP:0000512 Abnormal electroretinogram ORPHANET:110 MKS1 54903 HP:0000028 Cryptorchidism ORPHANET:110 MKS1 54903 HP:0000365 Hearing impairment ORPHANET:110 MKS1 54903 HP:0001513 Obesity ORPHANET:110 MKS1 54903 HP:0000147 Polycystic ovaries ORPHANET:110 MKS1 54903 HP:0006101 Finger syndactyly ORPHANET:110 MKS1 54903 HP:0007703 Abnormal retinal pigmentation ORPHANET:110 MKS1 54903 HP:0000822 Hypertension ORPHANET:110 MKS1 54903 HP:0002167 Neurological speech impairment ORPHANET:110 MKS1 54903 HP:0001399 Hepatic failure ORPHANET:110 MKS1 54903 HP:0000003 Multicystic kidney dysplasia ORPHANET:110 BBS10 79738 HP:0000998 Hypertrichosis ORPHANET:110 BBS10 79738 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:110 BBS10 79738 HP:0000470 Short neck ORPHANET:110 BBS10 79738 HP:0100543 Cognitive impairment ORPHANET:110 BBS10 79738 HP:0008736 Hypoplasia of penis ORPHANET:110 BBS10 79738 HP:0001162 Postaxial hand polydactyly ORPHANET:110 BBS10 79738 HP:0010747 Medial flaring of the eyebrow ORPHANET:110 BBS10 79738 HP:0000639 Nystagmus ORPHANET:110 BBS10 79738 HP:0000100 Nephrotic syndrome ORPHANET:110 BBS10 79738 HP:0000494 Downslanted palpebral fissures ORPHANET:110 BBS10 79738 HP:0004322 Short stature ORPHANET:110 BBS10 79738 HP:0000426 Prominent nasal bridge ORPHANET:110 BBS10 79738 HP:0000512 Abnormal electroretinogram ORPHANET:110 BBS10 79738 HP:0000028 Cryptorchidism ORPHANET:110 BBS10 79738 HP:0000365 Hearing impairment ORPHANET:110 BBS10 79738 HP:0001513 Obesity ORPHANET:110 BBS10 79738 HP:0000147 Polycystic ovaries ORPHANET:110 BBS10 79738 HP:0006101 Finger syndactyly ORPHANET:110 BBS10 79738 HP:0007703 Abnormal retinal pigmentation ORPHANET:110 BBS10 79738 HP:0000822 Hypertension ORPHANET:110 BBS10 79738 HP:0002167 Neurological speech impairment ORPHANET:110 BBS10 79738 HP:0001399 Hepatic failure ORPHANET:110 BBS10 79738 HP:0000003 Multicystic kidney dysplasia ORPHANET:110 BBIP1 92482 HP:0000998 Hypertrichosis ORPHANET:110 BBIP1 92482 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:110 BBIP1 92482 HP:0000470 Short neck ORPHANET:110 BBIP1 92482 HP:0100543 Cognitive impairment ORPHANET:110 BBIP1 92482 HP:0008736 Hypoplasia of penis ORPHANET:110 BBIP1 92482 HP:0001162 Postaxial hand polydactyly ORPHANET:110 BBIP1 92482 HP:0010747 Medial flaring of the eyebrow ORPHANET:110 BBIP1 92482 HP:0000639 Nystagmus ORPHANET:110 BBIP1 92482 HP:0000100 Nephrotic syndrome ORPHANET:110 BBIP1 92482 HP:0000494 Downslanted palpebral fissures ORPHANET:110 BBIP1 92482 HP:0004322 Short stature ORPHANET:110 BBIP1 92482 HP:0000426 Prominent nasal bridge ORPHANET:110 BBIP1 92482 HP:0000512 Abnormal electroretinogram ORPHANET:110 BBIP1 92482 HP:0000028 Cryptorchidism ORPHANET:110 BBIP1 92482 HP:0000365 Hearing impairment ORPHANET:110 BBIP1 92482 HP:0001513 Obesity ORPHANET:110 BBIP1 92482 HP:0000147 Polycystic ovaries ORPHANET:110 BBIP1 92482 HP:0006101 Finger syndactyly ORPHANET:110 BBIP1 92482 HP:0007703 Abnormal retinal pigmentation ORPHANET:110 BBIP1 92482 HP:0000822 Hypertension ORPHANET:110 BBIP1 92482 HP:0002167 Neurological speech impairment ORPHANET:110 BBIP1 92482 HP:0001399 Hepatic failure ORPHANET:110 BBIP1 92482 HP:0000003 Multicystic kidney dysplasia ORPHANET:110 NPHP1 4867 HP:0000998 Hypertrichosis ORPHANET:110 NPHP1 4867 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:110 NPHP1 4867 HP:0000470 Short neck ORPHANET:110 NPHP1 4867 HP:0100543 Cognitive impairment ORPHANET:110 NPHP1 4867 HP:0008736 Hypoplasia of penis ORPHANET:110 NPHP1 4867 HP:0001162 Postaxial hand polydactyly ORPHANET:110 NPHP1 4867 HP:0010747 Medial flaring of the eyebrow ORPHANET:110 NPHP1 4867 HP:0000639 Nystagmus ORPHANET:110 NPHP1 4867 HP:0000100 Nephrotic syndrome ORPHANET:110 NPHP1 4867 HP:0000494 Downslanted palpebral fissures ORPHANET:110 NPHP1 4867 HP:0004322 Short stature ORPHANET:110 NPHP1 4867 HP:0000426 Prominent nasal bridge ORPHANET:110 NPHP1 4867 HP:0000512 Abnormal electroretinogram ORPHANET:110 NPHP1 4867 HP:0000028 Cryptorchidism ORPHANET:110 NPHP1 4867 HP:0000365 Hearing impairment ORPHANET:110 NPHP1 4867 HP:0001513 Obesity ORPHANET:110 NPHP1 4867 HP:0000147 Polycystic ovaries ORPHANET:110 NPHP1 4867 HP:0006101 Finger syndactyly ORPHANET:110 NPHP1 4867 HP:0007703 Abnormal retinal pigmentation ORPHANET:110 NPHP1 4867 HP:0000822 Hypertension ORPHANET:110 NPHP1 4867 HP:0002167 Neurological speech impairment ORPHANET:110 NPHP1 4867 HP:0001399 Hepatic failure ORPHANET:110 NPHP1 4867 HP:0000003 Multicystic kidney dysplasia ORPHANET:110 BBS7 55212 HP:0000998 Hypertrichosis ORPHANET:110 BBS7 55212 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:110 BBS7 55212 HP:0000470 Short neck ORPHANET:110 BBS7 55212 HP:0100543 Cognitive impairment ORPHANET:110 BBS7 55212 HP:0008736 Hypoplasia of penis ORPHANET:110 BBS7 55212 HP:0001162 Postaxial hand polydactyly ORPHANET:110 BBS7 55212 HP:0010747 Medial flaring of the eyebrow ORPHANET:110 BBS7 55212 HP:0000639 Nystagmus ORPHANET:110 BBS7 55212 HP:0000100 Nephrotic syndrome ORPHANET:110 BBS7 55212 HP:0000494 Downslanted palpebral fissures ORPHANET:110 BBS7 55212 HP:0004322 Short stature ORPHANET:110 BBS7 55212 HP:0000426 Prominent nasal bridge ORPHANET:110 BBS7 55212 HP:0000512 Abnormal electroretinogram ORPHANET:110 BBS7 55212 HP:0000028 Cryptorchidism ORPHANET:110 BBS7 55212 HP:0000365 Hearing impairment ORPHANET:110 BBS7 55212 HP:0001513 Obesity ORPHANET:110 BBS7 55212 HP:0000147 Polycystic ovaries ORPHANET:110 BBS7 55212 HP:0006101 Finger syndactyly ORPHANET:110 BBS7 55212 HP:0007703 Abnormal retinal pigmentation ORPHANET:110 BBS7 55212 HP:0000822 Hypertension ORPHANET:110 BBS7 55212 HP:0002167 Neurological speech impairment ORPHANET:110 BBS7 55212 HP:0001399 Hepatic failure ORPHANET:110 BBS7 55212 HP:0000003 Multicystic kidney dysplasia ORPHANET:110 IFT172 26160 HP:0000998 Hypertrichosis ORPHANET:110 IFT172 26160 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:110 IFT172 26160 HP:0000470 Short neck ORPHANET:110 IFT172 26160 HP:0100543 Cognitive impairment ORPHANET:110 IFT172 26160 HP:0008736 Hypoplasia of penis ORPHANET:110 IFT172 26160 HP:0001162 Postaxial hand polydactyly ORPHANET:110 IFT172 26160 HP:0010747 Medial flaring of the eyebrow ORPHANET:110 IFT172 26160 HP:0000639 Nystagmus ORPHANET:110 IFT172 26160 HP:0000100 Nephrotic syndrome ORPHANET:110 IFT172 26160 HP:0000494 Downslanted palpebral fissures ORPHANET:110 IFT172 26160 HP:0004322 Short stature ORPHANET:110 IFT172 26160 HP:0000426 Prominent nasal bridge ORPHANET:110 IFT172 26160 HP:0000512 Abnormal electroretinogram ORPHANET:110 IFT172 26160 HP:0000028 Cryptorchidism ORPHANET:110 IFT172 26160 HP:0000365 Hearing impairment ORPHANET:110 IFT172 26160 HP:0001513 Obesity ORPHANET:110 IFT172 26160 HP:0000147 Polycystic ovaries ORPHANET:110 IFT172 26160 HP:0006101 Finger syndactyly ORPHANET:110 IFT172 26160 HP:0007703 Abnormal retinal pigmentation ORPHANET:110 IFT172 26160 HP:0000822 Hypertension ORPHANET:110 IFT172 26160 HP:0002167 Neurological speech impairment ORPHANET:110 IFT172 26160 HP:0001399 Hepatic failure ORPHANET:110 IFT172 26160 HP:0000003 Multicystic kidney dysplasia ORPHANET:110 BBS9 27241 HP:0000998 Hypertrichosis ORPHANET:110 BBS9 27241 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:110 BBS9 27241 HP:0000470 Short neck ORPHANET:110 BBS9 27241 HP:0100543 Cognitive impairment ORPHANET:110 BBS9 27241 HP:0008736 Hypoplasia of penis ORPHANET:110 BBS9 27241 HP:0001162 Postaxial hand polydactyly ORPHANET:110 BBS9 27241 HP:0010747 Medial flaring of the eyebrow ORPHANET:110 BBS9 27241 HP:0000639 Nystagmus ORPHANET:110 BBS9 27241 HP:0000100 Nephrotic syndrome ORPHANET:110 BBS9 27241 HP:0000494 Downslanted palpebral fissures ORPHANET:110 BBS9 27241 HP:0004322 Short stature ORPHANET:110 BBS9 27241 HP:0000426 Prominent nasal bridge ORPHANET:110 BBS9 27241 HP:0000512 Abnormal electroretinogram ORPHANET:110 BBS9 27241 HP:0000028 Cryptorchidism ORPHANET:110 BBS9 27241 HP:0000365 Hearing impairment ORPHANET:110 BBS9 27241 HP:0001513 Obesity ORPHANET:110 BBS9 27241 HP:0000147 Polycystic ovaries ORPHANET:110 BBS9 27241 HP:0006101 Finger syndactyly ORPHANET:110 BBS9 27241 HP:0007703 Abnormal retinal pigmentation ORPHANET:110 BBS9 27241 HP:0000822 Hypertension ORPHANET:110 BBS9 27241 HP:0002167 Neurological speech impairment ORPHANET:110 BBS9 27241 HP:0001399 Hepatic failure ORPHANET:110 BBS9 27241 HP:0000003 Multicystic kidney dysplasia ORPHANET:110 TTC8 123016 HP:0000998 Hypertrichosis ORPHANET:110 TTC8 123016 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:110 TTC8 123016 HP:0000470 Short neck ORPHANET:110 TTC8 123016 HP:0100543 Cognitive impairment ORPHANET:110 TTC8 123016 HP:0008736 Hypoplasia of penis ORPHANET:110 TTC8 123016 HP:0001162 Postaxial hand polydactyly ORPHANET:110 TTC8 123016 HP:0010747 Medial flaring of the eyebrow ORPHANET:110 TTC8 123016 HP:0000639 Nystagmus ORPHANET:110 TTC8 123016 HP:0000100 Nephrotic syndrome ORPHANET:110 TTC8 123016 HP:0000494 Downslanted palpebral fissures ORPHANET:110 TTC8 123016 HP:0004322 Short stature ORPHANET:110 TTC8 123016 HP:0000426 Prominent nasal bridge ORPHANET:110 TTC8 123016 HP:0000512 Abnormal electroretinogram ORPHANET:110 TTC8 123016 HP:0000028 Cryptorchidism ORPHANET:110 TTC8 123016 HP:0000365 Hearing impairment ORPHANET:110 TTC8 123016 HP:0001513 Obesity ORPHANET:110 TTC8 123016 HP:0000147 Polycystic ovaries ORPHANET:110 TTC8 123016 HP:0006101 Finger syndactyly ORPHANET:110 TTC8 123016 HP:0007703 Abnormal retinal pigmentation ORPHANET:110 TTC8 123016 HP:0000822 Hypertension ORPHANET:110 TTC8 123016 HP:0002167 Neurological speech impairment ORPHANET:110 TTC8 123016 HP:0001399 Hepatic failure ORPHANET:110 TTC8 123016 HP:0000003 Multicystic kidney dysplasia OMIM:602541 CHKB 1120 HP:0002515 Waddling gait OMIM:602541 CHKB 1120 HP:0001644 Dilated cardiomyopathy OMIM:602541 CHKB 1120 HP:0008064 Ichthyosis OMIM:602541 CHKB 1120 HP:0000007 Autosomal recessive inheritance OMIM:602541 CHKB 1120 HP:0003391 Gowers sign OMIM:602541 CHKB 1120 HP:0002465 Poor speech OMIM:602541 CHKB 1120 HP:0001249 Intellectual disability OMIM:602541 CHKB 1120 HP:0001270 Motor delay OMIM:602541 CHKB 1120 HP:0010628 Facial palsy OMIM:602541 CHKB 1120 HP:0003741 Congenital muscular dystrophy OMIM:602541 CHKB 1120 HP:0001319 Neonatal hypotonia OMIM:602541 CHKB 1120 HP:0003577 Congenital onset OMIM:602541 CHKB 1120 HP:0001250 Seizures OMIM:602541 CHKB 1120 HP:0003198 Myopathy OMIM:602541 CHKB 1120 HP:0000750 Delayed speech and language development OMIM:602541 CHKB 1120 HP:0003677 Slow progression OMIM:602541 CHKB 1120 HP:0003236 Elevated serum creatine phosphokinase OMIM:602541 CHKB 1120 HP:0000252 Microcephaly OMIM:602541 CHKB 1120 HP:0001427 Mitochondrial inheritance OMIM:133239 DEC1 50514 HP:0000464 Abnormality of the neck OMIM:133239 DEC1 50514 HP:0008872 Feeding difficulties in infancy OMIM:133239 DEC1 50514 HP:0100749 Chest pain OMIM:133239 DEC1 50514 HP:0002860 Squamous cell carcinoma OMIM:133239 DEC1 50514 HP:0002716 Lymphadenopathy OMIM:133239 DEC1 50514 HP:0001824 Weight loss OMIM:133239 DEC1 50514 HP:0001513 Obesity OMIM:133239 DEC1 50514 HP:0000006 Autosomal dominant inheritance OMIM:133239 DEC1 50514 HP:0100247 Recurrent singultus OMIM:133239 DEC1 50514 HP:0100580 Barrett esophagus OMIM:133239 DEC1 50514 HP:0002017 Nausea and vomiting OMIM:133239 DEC1 50514 HP:0002242 Abnormality of the intestine OMIM:133239 DEC1 50514 HP:0001608 Abnormality of the voice OMIM:133239 WWOX 51741 HP:0000464 Abnormality of the neck OMIM:133239 WWOX 51741 HP:0008872 Feeding difficulties in infancy OMIM:133239 WWOX 51741 HP:0100749 Chest pain OMIM:133239 WWOX 51741 HP:0002860 Squamous cell carcinoma OMIM:133239 WWOX 51741 HP:0002716 Lymphadenopathy OMIM:133239 WWOX 51741 HP:0001824 Weight loss OMIM:133239 WWOX 51741 HP:0001513 Obesity OMIM:133239 WWOX 51741 HP:0000006 Autosomal dominant inheritance OMIM:133239 WWOX 51741 HP:0100247 Recurrent singultus OMIM:133239 WWOX 51741 HP:0100580 Barrett esophagus OMIM:133239 WWOX 51741 HP:0002017 Nausea and vomiting OMIM:133239 WWOX 51741 HP:0002242 Abnormality of the intestine OMIM:133239 WWOX 51741 HP:0001608 Abnormality of the voice OMIM:133239 RNF6 6049 HP:0000464 Abnormality of the neck OMIM:133239 RNF6 6049 HP:0008872 Feeding difficulties in infancy OMIM:133239 RNF6 6049 HP:0100749 Chest pain OMIM:133239 RNF6 6049 HP:0002860 Squamous cell carcinoma OMIM:133239 RNF6 6049 HP:0002716 Lymphadenopathy OMIM:133239 RNF6 6049 HP:0001824 Weight loss OMIM:133239 RNF6 6049 HP:0001513 Obesity OMIM:133239 RNF6 6049 HP:0000006 Autosomal dominant inheritance OMIM:133239 RNF6 6049 HP:0100247 Recurrent singultus OMIM:133239 RNF6 6049 HP:0100580 Barrett esophagus OMIM:133239 RNF6 6049 HP:0002017 Nausea and vomiting OMIM:133239 RNF6 6049 HP:0002242 Abnormality of the intestine OMIM:133239 RNF6 6049 HP:0001608 Abnormality of the voice OMIM:133239 LZTS1 11178 HP:0000464 Abnormality of the neck OMIM:133239 LZTS1 11178 HP:0008872 Feeding difficulties in infancy OMIM:133239 LZTS1 11178 HP:0100749 Chest pain OMIM:133239 LZTS1 11178 HP:0002860 Squamous cell carcinoma OMIM:133239 LZTS1 11178 HP:0002716 Lymphadenopathy OMIM:133239 LZTS1 11178 HP:0001824 Weight loss OMIM:133239 LZTS1 11178 HP:0001513 Obesity OMIM:133239 LZTS1 11178 HP:0000006 Autosomal dominant inheritance OMIM:133239 LZTS1 11178 HP:0100247 Recurrent singultus OMIM:133239 LZTS1 11178 HP:0100580 Barrett esophagus OMIM:133239 LZTS1 11178 HP:0002017 Nausea and vomiting OMIM:133239 LZTS1 11178 HP:0002242 Abnormality of the intestine OMIM:133239 LZTS1 11178 HP:0001608 Abnormality of the voice OMIM:133239 DLEC1 9940 HP:0000464 Abnormality of the neck OMIM:133239 DLEC1 9940 HP:0008872 Feeding difficulties in infancy OMIM:133239 DLEC1 9940 HP:0100749 Chest pain OMIM:133239 DLEC1 9940 HP:0002860 Squamous cell carcinoma OMIM:133239 DLEC1 9940 HP:0002716 Lymphadenopathy OMIM:133239 DLEC1 9940 HP:0001824 Weight loss OMIM:133239 DLEC1 9940 HP:0001513 Obesity OMIM:133239 DLEC1 9940 HP:0000006 Autosomal dominant inheritance OMIM:133239 DLEC1 9940 HP:0100247 Recurrent singultus OMIM:133239 DLEC1 9940 HP:0100580 Barrett esophagus OMIM:133239 DLEC1 9940 HP:0002017 Nausea and vomiting OMIM:133239 DLEC1 9940 HP:0002242 Abnormality of the intestine OMIM:133239 DLEC1 9940 HP:0001608 Abnormality of the voice OMIM:133239 TGFBR2 7048 HP:0000464 Abnormality of the neck OMIM:133239 TGFBR2 7048 HP:0008872 Feeding difficulties in infancy OMIM:133239 TGFBR2 7048 HP:0100749 Chest pain OMIM:133239 TGFBR2 7048 HP:0002860 Squamous cell carcinoma OMIM:133239 TGFBR2 7048 HP:0002716 Lymphadenopathy OMIM:133239 TGFBR2 7048 HP:0001824 Weight loss OMIM:133239 TGFBR2 7048 HP:0001513 Obesity OMIM:133239 TGFBR2 7048 HP:0000006 Autosomal dominant inheritance OMIM:133239 TGFBR2 7048 HP:0100247 Recurrent singultus OMIM:133239 TGFBR2 7048 HP:0100580 Barrett esophagus OMIM:133239 TGFBR2 7048 HP:0002017 Nausea and vomiting OMIM:133239 TGFBR2 7048 HP:0002242 Abnormality of the intestine OMIM:133239 TGFBR2 7048 HP:0001608 Abnormality of the voice OMIM:133239 DCC 1630 HP:0000464 Abnormality of the neck OMIM:133239 DCC 1630 HP:0008872 Feeding difficulties in infancy OMIM:133239 DCC 1630 HP:0100749 Chest pain OMIM:133239 DCC 1630 HP:0002860 Squamous cell carcinoma OMIM:133239 DCC 1630 HP:0002716 Lymphadenopathy OMIM:133239 DCC 1630 HP:0001824 Weight loss OMIM:133239 DCC 1630 HP:0001513 Obesity OMIM:133239 DCC 1630 HP:0000006 Autosomal dominant inheritance OMIM:133239 DCC 1630 HP:0100247 Recurrent singultus OMIM:133239 DCC 1630 HP:0100580 Barrett esophagus OMIM:133239 DCC 1630 HP:0002017 Nausea and vomiting OMIM:133239 DCC 1630 HP:0002242 Abnormality of the intestine OMIM:133239 DCC 1630 HP:0001608 Abnormality of the voice OMIM:245340 SLC16A1 6566 HP:0003236 Elevated serum creatine phosphokinase OMIM:245340 SLC16A1 6566 HP:0003710 Exercise-induced muscle cramps OMIM:245340 SLC16A1 6566 HP:0009020 Exercise-induced muscle fatigue OMIM:245340 SLC16A1 6566 HP:0000006 Autosomal dominant inheritance OMIM:245340 SLC16A1 6566 HP:0008967 Exercise-induced muscle stiffness OMIM:614742 TERT 7015 HP:0001915 Aplastic anemia OMIM:614742 TERT 7015 HP:0005528 Bone marrow hypocellularity OMIM:614742 TERT 7015 HP:0002216 Premature graying of hair OMIM:614742 TERT 7015 HP:0001394 Cirrhosis OMIM:614742 TERT 7015 HP:0000006 Autosomal dominant inheritance OMIM:614742 TERT 7015 HP:0003829 Incomplete penetrance OMIM:614742 TERT 7015 HP:0002206 Pulmonary fibrosis OMIM:614742 TERT 7015 HP:0003581 Adult onset OMIM:614742 TERT 7015 HP:0001909 Leukemia OMIM:162800 ELANE 1991 HP:0200042 Skin ulcer OMIM:162800 ELANE 1991 HP:0001879 Abnormality of eosinophils OMIM:162800 ELANE 1991 HP:0000006 Autosomal dominant inheritance OMIM:162800 ELANE 1991 HP:0001873 Thrombocytopenia OMIM:162800 ELANE 1991 HP:0000670 Carious teeth OMIM:162800 ELANE 1991 HP:0001874 Abnormality of neutrophils OMIM:162800 ELANE 1991 HP:0100806 Sepsis OMIM:162800 ELANE 1991 HP:0002205 Recurrent respiratory infections OMIM:162800 ELANE 1991 HP:0000153 Abnormality of the mouth OMIM:162800 ELANE 1991 HP:0001875 Neutropenia OMIM:162800 ELANE 1991 HP:0001903 Anemia OMIM:162800 ELANE 1991 HP:0002716 Lymphadenopathy OMIM:162800 ELANE 1991 HP:0002027 Abdominal pain OMIM:162800 ELANE 1991 HP:0001945 Fever OMIM:162800 ELANE 1991 HP:0000704 Periodontitis OMIM:162800 ELANE 1991 HP:0004370 Abnormality of temperature regulation OMIM:104150 AFP 174 HP:0000007 Autosomal recessive inheritance OMIM:104150 AFP 174 HP:0000006 Autosomal dominant inheritance OMIM:104150 AFP 174 HP:0011432 High maternal serum alpha-fetoprotein OMIM:607039 OTOA 146183 HP:0000407 Sensorineural hearing impairment OMIM:607039 OTOA 146183 HP:0000007 Autosomal recessive inheritance OMIM:602433 SETX 23064 HP:0001347 Hyperreflexia OMIM:602433 SETX 23064 HP:0003487 Babinski sign OMIM:602433 SETX 23064 HP:0002127 Abnormal upper motor neuron morphology OMIM:602433 SETX 23064 HP:0002169 Clonus OMIM:602433 SETX 23064 HP:0002398 Degeneration of anterior horn cells OMIM:602433 SETX 23064 HP:0001761 Pes cavus OMIM:602433 SETX 23064 HP:0003677 Slow progression OMIM:602433 SETX 23064 HP:0002460 Distal muscle weakness OMIM:602433 SETX 23064 HP:0002355 Difficulty walking OMIM:602433 SETX 23064 HP:0000006 Autosomal dominant inheritance OMIM:602433 SETX 23064 HP:0002366 Abnormal lower motor neuron morphology OMIM:602433 SETX 23064 HP:0006825 Pallor of dorsal columns of the spinal cord OMIM:602433 SETX 23064 HP:0040078 Axonal degeneration OMIM:602433 SETX 23064 HP:0007354 Amyotrophic lateral sclerosis OMIM:602433 SETX 23064 HP:0003405 Diffuse axonal swelling OMIM:610678 TUFM 7284 HP:0003128 Lactic acidosis OMIM:610678 TUFM 7284 HP:0001987 Hyperammonemia OMIM:610678 TUFM 7284 HP:0000007 Autosomal recessive inheritance OMIM:610678 TUFM 7284 HP:0002126 Polymicrogyria OMIM:610678 TUFM 7284 HP:0002240 Hepatomegaly OMIM:610678 TUFM 7284 HP:0002179 Opisthotonus OMIM:610678 TUFM 7284 HP:0000639 Nystagmus OMIM:610678 TUFM 7284 HP:0000252 Microcephaly OMIM:610678 TUFM 7284 HP:0002376 Developmental regression OMIM:610678 TUFM 7284 HP:0001522 Death in infancy OMIM:610678 TUFM 7284 HP:0001942 Metabolic acidosis ORPHANET:269 SMCHD1 23347 HP:0003457 EMG abnormality ORPHANET:269 SMCHD1 23347 HP:0002564 Malformation of the heart and great vessels ORPHANET:269 SMCHD1 23347 HP:0003202 Skeletal muscle atrophy ORPHANET:269 SMCHD1 23347 HP:0008046 Abnormality of the retinal vasculature ORPHANET:269 SMCHD1 23347 HP:0003307 Hyperlordosis ORPHANET:269 SMCHD1 23347 HP:0000407 Sensorineural hearing impairment ORPHANET:269 SMCHD1 23347 HP:0100540 Palpebral edema ORPHANET:269 SMCHD1 23347 HP:0000499 Abnormality of the eyelashes ORPHANET:269 SMCHD1 23347 HP:0000298 Mask-like facies ORPHANET:269 FRG1 2483 HP:0003457 EMG abnormality ORPHANET:269 FRG1 2483 HP:0002564 Malformation of the heart and great vessels ORPHANET:269 FRG1 2483 HP:0003202 Skeletal muscle atrophy ORPHANET:269 FRG1 2483 HP:0008046 Abnormality of the retinal vasculature ORPHANET:269 FRG1 2483 HP:0003307 Hyperlordosis ORPHANET:269 FRG1 2483 HP:0000407 Sensorineural hearing impairment ORPHANET:269 FRG1 2483 HP:0100540 Palpebral edema ORPHANET:269 FRG1 2483 HP:0000499 Abnormality of the eyelashes ORPHANET:269 FRG1 2483 HP:0000298 Mask-like facies ORPHANET:269 DUX4 100288687 HP:0003457 EMG abnormality ORPHANET:269 DUX4 100288687 HP:0002564 Malformation of the heart and great vessels ORPHANET:269 DUX4 100288687 HP:0003202 Skeletal muscle atrophy ORPHANET:269 DUX4 100288687 HP:0008046 Abnormality of the retinal vasculature ORPHANET:269 DUX4 100288687 HP:0003307 Hyperlordosis ORPHANET:269 DUX4 100288687 HP:0000407 Sensorineural hearing impairment ORPHANET:269 DUX4 100288687 HP:0100540 Palpebral edema ORPHANET:269 DUX4 100288687 HP:0000499 Abnormality of the eyelashes ORPHANET:269 DUX4 100288687 HP:0000298 Mask-like facies OMIM:610542 GFPT1 2673 HP:0003394 Muscle cramps OMIM:610542 GFPT1 2673 HP:0010628 Facial palsy OMIM:610542 GFPT1 2673 HP:0003473 Fatigable weakness OMIM:610542 GFPT1 2673 HP:0003403 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation OMIM:610542 GFPT1 2673 HP:0003388 Easy fatigability OMIM:610542 GFPT1 2673 HP:0000007 Autosomal recessive inheritance OMIM:610542 GFPT1 2673 HP:0003621 Juvenile onset OMIM:610542 GFPT1 2673 HP:0002515 Waddling gait OMIM:610542 GFPT1 2673 HP:0001270 Motor delay OMIM:610542 GFPT1 2673 HP:0000467 Neck muscle weakness OMIM:610542 GFPT1 2673 HP:0003391 Gowers sign OMIM:610542 GFPT1 2673 HP:0000508 Ptosis OMIM:610542 GFPT1 2673 HP:0000597 Ophthalmoparesis OMIM:610542 GFPT1 2673 HP:0008180 Mildly elevated creatine phosphokinase OMIM:610542 GFPT1 2673 HP:0007126 Proximal amyotrophy OMIM:613204 ITGA7 3679 HP:0001270 Motor delay OMIM:613204 ITGA7 3679 HP:0008947 Infantile muscular hypotonia OMIM:613204 ITGA7 3679 HP:0100543 Cognitive impairment OMIM:613204 ITGA7 3679 HP:0003557 Increased variability in muscle fiber diameter OMIM:613204 ITGA7 3679 HP:0001249 Intellectual disability OMIM:613204 ITGA7 3679 HP:0002650 Scoliosis OMIM:613204 ITGA7 3679 HP:0003741 Congenital muscular dystrophy OMIM:613204 ITGA7 3679 HP:0000007 Autosomal recessive inheritance OMIM:613204 ITGA7 3679 HP:0003593 Infantile onset OMIM:613204 ITGA7 3679 HP:0012548 Fatty replacement of skeletal muscle OMIM:613204 ITGA7 3679 HP:0003198 Myopathy OMIM:613204 ITGA7 3679 HP:0001319 Neonatal hypotonia OMIM:613204 ITGA7 3679 HP:0003236 Elevated serum creatine phosphokinase OMIM:613204 ITGA7 3679 HP:0003202 Skeletal muscle atrophy OMIM:127750 SNCA 6622 HP:0000746 Delusions OMIM:127750 SNCA 6622 HP:0000726 Dementia OMIM:127750 SNCA 6622 HP:0001300 Parkinsonism OMIM:127750 SNCA 6622 HP:0002367 Visual hallucinations OMIM:127750 SNCA 6622 HP:0000006 Autosomal dominant inheritance OMIM:127750 SNCA 6622 HP:0007159 Fluctuations in consciousness OMIM:127750 SNCB 6620 HP:0000746 Delusions OMIM:127750 SNCB 6620 HP:0000726 Dementia OMIM:127750 SNCB 6620 HP:0001300 Parkinsonism OMIM:127750 SNCB 6620 HP:0002367 Visual hallucinations OMIM:127750 SNCB 6620 HP:0000006 Autosomal dominant inheritance OMIM:127750 SNCB 6620 HP:0007159 Fluctuations in consciousness OMIM:249900 PSAP 5660 HP:0003828 Variable expressivity OMIM:249900 PSAP 5660 HP:0001324 Muscle weakness OMIM:249900 PSAP 5660 HP:0011096 Peripheral demyelination OMIM:249900 PSAP 5660 HP:0000762 Decreased nerve conduction velocity OMIM:249900 PSAP 5660 HP:0002376 Developmental regression OMIM:249900 PSAP 5660 HP:0001347 Hyperreflexia OMIM:249900 PSAP 5660 HP:0001260 Dysarthria OMIM:249900 PSAP 5660 HP:0001263 Global developmental delay OMIM:249900 PSAP 5660 HP:0001268 Mental deterioration OMIM:249900 PSAP 5660 HP:0007305 CNS demyelination OMIM:249900 PSAP 5660 HP:0002518 Abnormality of the periventricular white matter OMIM:249900 PSAP 5660 HP:0003487 Babinski sign OMIM:249900 PSAP 5660 HP:0002015 Dysphagia OMIM:249900 PSAP 5660 HP:0001285 Spastic tetraparesis OMIM:249900 PSAP 5660 HP:0002066 Gait ataxia OMIM:249900 PSAP 5660 HP:0000007 Autosomal recessive inheritance OMIM:249900 PSAP 5660 HP:0001250 Seizures OMIM:249900 PSAP 5660 HP:0001271 Polyneuropathy OMIM:249900 PSAP 5660 HP:0002371 Loss of speech OMIM:249900 PSAP 5660 HP:0000020 Urinary incontinence OMIM:249900 PSAP 5660 HP:0001252 Muscular hypotonia OMIM:249900 PSAP 5660 HP:0001265 Hyporeflexia OMIM:612691 FIG4 9896 HP:0002119 Ventriculomegaly OMIM:612691 FIG4 9896 HP:0002126 Polymicrogyria OMIM:612691 FIG4 9896 HP:0000718 Aggressive behavior OMIM:612691 FIG4 9896 HP:0002384 Focal seizures with impairment of consciousness or awareness OMIM:612691 FIG4 9896 HP:0002367 Visual hallucinations OMIM:612691 FIG4 9896 HP:0002133 Status epilepticus OMIM:259710 TNFSF11 8600 HP:0000618 Blindness OMIM:259710 TNFSF11 8600 HP:0001876 Pancytopenia OMIM:259710 TNFSF11 8600 HP:0001978 Extramedullary hematopoiesis OMIM:259710 TNFSF11 8600 HP:0002757 Recurrent fractures OMIM:259710 TNFSF11 8600 HP:0007626 Mandibular osteomyelitis OMIM:259710 TNFSF11 8600 HP:0000648 Optic atrophy OMIM:259710 TNFSF11 8600 HP:0001873 Thrombocytopenia OMIM:259710 TNFSF11 8600 HP:0004437 Cranial hyperostosis OMIM:259710 TNFSF11 8600 HP:0000670 Carious teeth OMIM:259710 TNFSF11 8600 HP:0000007 Autosomal recessive inheritance OMIM:259710 TNFSF11 8600 HP:0000303 Mandibular prognathia OMIM:259710 TNFSF11 8600 HP:0001903 Anemia OMIM:259710 TNFSF11 8600 HP:0006335 Persistence of primary teeth OMIM:259710 TNFSF11 8600 HP:0011002 Osteopetrosis OMIM:259710 TNFSF11 8600 HP:0007209 Facial paralysis OMIM:259710 TNFSF11 8600 HP:0001433 Hepatosplenomegaly OMIM:259710 TNFSF11 8600 HP:0002857 Genu valgum OMIM:259710 TNFSF11 8600 HP:0004499 Chronic rhinitis due to narrow nasal airway OMIM:259710 TNFSF11 8600 HP:0003034 Diaphyseal sclerosis OMIM:125310 NOTCH3 4854 HP:0002354 Memory impairment OMIM:125310 NOTCH3 4854 HP:0009830 Peripheral neuropathy OMIM:125310 NOTCH3 4854 HP:0000365 Hearing impairment OMIM:125310 NOTCH3 4854 HP:0000822 Hypertension OMIM:125310 NOTCH3 4854 HP:0002353 EEG abnormality OMIM:125310 NOTCH3 4854 HP:0001943 Hypoglycemia OMIM:125310 NOTCH3 4854 HP:0001933 Subcutaneous hemorrhage OMIM:125310 NOTCH3 4854 HP:0002170 Intracranial hemorrhage OMIM:125310 NOTCH3 4854 HP:0007634 Nonarteritic anterior ischemic optic neuropathy OMIM:125310 NOTCH3 4854 HP:0007024 Pseudobulbar paralysis OMIM:125310 NOTCH3 4854 HP:0002071 Abnormality of extrapyramidal motor function OMIM:125310 NOTCH3 4854 HP:0002120 Cerebral cortical atrophy OMIM:125310 NOTCH3 4854 HP:0002167 Neurological speech impairment OMIM:125310 NOTCH3 4854 HP:0000572 Visual loss OMIM:125310 NOTCH3 4854 HP:0007236 Recurrent subcortical infarcts OMIM:125310 NOTCH3 4854 HP:0002205 Recurrent respiratory infections OMIM:125310 NOTCH3 4854 HP:0000649 Abnormality of vision evoked potentials OMIM:125310 NOTCH3 4854 HP:0007123 Subcortical dementia OMIM:125310 NOTCH3 4854 HP:0001288 Gait disturbance OMIM:125310 NOTCH3 4854 HP:0005293 Venous insufficiency OMIM:125310 NOTCH3 4854 HP:0002352 Leukoencephalopathy OMIM:125310 NOTCH3 4854 HP:0000708 Behavioral abnormality OMIM:125310 NOTCH3 4854 HP:0001250 Seizures OMIM:125310 NOTCH3 4854 HP:0001276 Hypertonia OMIM:125310 NOTCH3 4854 HP:0002076 Migraine OMIM:125310 NOTCH3 4854 HP:0003581 Adult onset OMIM:125310 NOTCH3 4854 HP:0000020 Urinary incontinence OMIM:125310 NOTCH3 4854 HP:0002621 Atherosclerosis OMIM:125310 NOTCH3 4854 HP:0008046 Abnormality of the retinal vasculature OMIM:125310 NOTCH3 4854 HP:0004372 Reduced consciousness/confusion OMIM:125310 NOTCH3 4854 HP:0000006 Autosomal dominant inheritance OMIM:125310 NOTCH3 4854 HP:0004370 Abnormality of temperature regulation OMIM:125310 NOTCH3 4854 HP:0002637 Cerebral ischemia OMIM:125310 NOTCH3 4854 HP:0001297 Stroke OMIM:125310 NOTCH3 4854 HP:0000512 Abnormal electroretinogram OMIM:125310 NOTCH3 4854 HP:0006824 Cranial nerve paralysis OMIM:125310 NOTCH3 4854 HP:0000951 Abnormality of the skin OMIM:125310 NOTCH3 4854 HP:0004374 Hemiplegia/hemiparesis OMIM:125310 NOTCH3 4854 HP:0002619 Varicose veins OMIM:125310 NOTCH3 4854 HP:0002376 Developmental regression OMIM:125310 NOTCH3 4854 HP:0100576 Amaurosis fugax OMIM:609218 SLC38A8 146167 HP:0001137 Alternating esotropia OMIM:609218 SLC38A8 146167 HP:0007750 Hypoplasia of the fovea OMIM:609218 SLC38A8 146167 HP:0001492 Axenfeld anomaly OMIM:609218 SLC38A8 146167 HP:0000639 Nystagmus OMIM:609218 SLC38A8 146167 HP:0000007 Autosomal recessive inheritance OMIM:609218 SLC38A8 146167 HP:0000568 Microphthalmos OMIM:609218 SLC38A8 146167 HP:0000627 Posterior embryotoxon OMIM:609218 SLC38A8 146167 HP:0000505 Visual impairment OMIM:614111 PDHB 5162 HP:0001290 Generalized hypotonia OMIM:614111 PDHB 5162 HP:0003128 Lactic acidosis OMIM:614111 PDHB 5162 HP:0000007 Autosomal recessive inheritance OMIM:610181 RNASEH2B 79621 HP:0002059 Cerebral atrophy OMIM:610181 RNASEH2B 79621 HP:0001298 Encephalopathy OMIM:610181 RNASEH2B 79621 HP:0001258 Spastic paraplegia OMIM:610181 RNASEH2B 79621 HP:0002135 Basal ganglia calcification OMIM:610181 RNASEH2B 79621 HP:0000007 Autosomal recessive inheritance OMIM:610181 RNASEH2B 79621 HP:0001332 Dystonia OMIM:610181 RNASEH2B 79621 HP:0000252 Microcephaly OMIM:610181 RNASEH2B 79621 HP:0009704 Chronic CSF lymphocytosis OMIM:614741 MPC1 51660 HP:0002151 Increased serum lactate OMIM:614741 MPC1 51660 HP:0001583 Rotary nystagmus OMIM:614741 MPC1 51660 HP:0002240 Hepatomegaly OMIM:614741 MPC1 51660 HP:0009830 Peripheral neuropathy OMIM:614741 MPC1 51660 HP:0002098 Respiratory distress OMIM:614741 MPC1 51660 HP:0001250 Seizures OMIM:614741 MPC1 51660 HP:0001943 Hypoglycemia OMIM:614741 MPC1 51660 HP:0001992 Organic aciduria OMIM:614741 MPC1 51660 HP:0003828 Variable expressivity OMIM:614741 MPC1 51660 HP:0003128 Lactic acidosis OMIM:614741 MPC1 51660 HP:0000007 Autosomal recessive inheritance OMIM:614741 MPC1 51660 HP:0001263 Global developmental delay OMIM:614741 MPC1 51660 HP:0000253 Progressive microcephaly OMIM:614741 MPC1 51660 HP:0000343 Long philtrum OMIM:614741 MPC1 51660 HP:0001252 Muscular hypotonia OMIM:614741 MPC1 51660 HP:0003542 Increased serum pyruvate OMIM:614741 MPC1 51660 HP:0000219 Thin upper lip vermilion OMIM:614741 MPC1 51660 HP:0000286 Epicanthus OMIM:614741 MPC1 51660 HP:0001298 Encephalopathy OMIM:614741 MPC1 51660 HP:0003577 Congenital onset OMIM:615706 EDN1 1906 HP:0000402 Stenosis of the external auditory canal OMIM:615706 EDN1 1906 HP:0000193 Bifid uvula OMIM:615706 EDN1 1906 HP:0008513 Bilateral conductive hearing impairment OMIM:615706 EDN1 1906 HP:0000293 Full cheeks OMIM:615706 EDN1 1906 HP:0000007 Autosomal recessive inheritance OMIM:615706 EDN1 1906 HP:0000278 Retrognathia OMIM:615706 EDN1 1906 HP:0030022 Question mark ear OMIM:615706 EDN1 1906 HP:0000162 Glossoptosis OMIM:615706 EDN1 1906 HP:0008751 Laryngeal cleft OMIM:615706 EDN1 1906 HP:0000347 Micrognathia OMIM:614213 KIF1A 547 HP:0001284 Areflexia OMIM:614213 KIF1A 547 HP:0001263 Global developmental delay OMIM:614213 KIF1A 547 HP:0004322 Short stature OMIM:614213 KIF1A 547 HP:0009830 Peripheral neuropathy OMIM:614213 KIF1A 547 HP:0003676 Progressive disorder OMIM:614213 KIF1A 547 HP:0001265 Hyporeflexia OMIM:614213 KIF1A 547 HP:0000007 Autosomal recessive inheritance OMIM:609049 LAMB2 3913 HP:0001284 Areflexia OMIM:609049 LAMB2 3913 HP:0100022 Abnormality of movement OMIM:609049 LAMB2 3913 HP:0004374 Hemiplegia/hemiparesis OMIM:609049 LAMB2 3913 HP:0000007 Autosomal recessive inheritance OMIM:609049 LAMB2 3913 HP:0000790 Hematuria OMIM:609049 LAMB2 3913 HP:0001967 Diffuse mesangial sclerosis OMIM:609049 LAMB2 3913 HP:0011502 Posterior lenticonus OMIM:609049 LAMB2 3913 HP:0000100 Nephrotic syndrome OMIM:609049 LAMB2 3913 HP:0003774 Stage 5 chronic kidney disease OMIM:609049 LAMB2 3913 HP:0003623 Neonatal onset OMIM:609049 LAMB2 3913 HP:0000639 Nystagmus OMIM:609049 LAMB2 3913 HP:0007676 Hypoplasia of the iris OMIM:609049 LAMB2 3913 HP:0001252 Muscular hypotonia OMIM:609049 LAMB2 3913 HP:0002353 EEG abnormality OMIM:609049 LAMB2 3913 HP:0000618 Blindness OMIM:609049 LAMB2 3913 HP:0000518 Cataract OMIM:609049 LAMB2 3913 HP:0003075 Hypoproteinemia OMIM:609049 LAMB2 3913 HP:0000969 Edema OMIM:609049 LAMB2 3913 HP:0007774 Hypoplasia of the ciliary body OMIM:609049 LAMB2 3913 HP:0000093 Proteinuria OMIM:609049 LAMB2 3913 HP:0008736 Hypoplasia of penis OMIM:609049 LAMB2 3913 HP:0000822 Hypertension OMIM:181405 TRPV4 59341 HP:0011349 Abducens palsy OMIM:181405 TRPV4 59341 HP:0001762 Talipes equinovarus OMIM:181405 TRPV4 59341 HP:0009049 Peroneal muscle atrophy OMIM:181405 TRPV4 59341 HP:0009113 Diaphragmatic weakness OMIM:181405 TRPV4 59341 HP:0011727 Peroneal muscle weakness OMIM:181405 TRPV4 59341 HP:0003697 Scapuloperoneal amyotrophy OMIM:181405 TRPV4 59341 HP:0003555 Muscle fiber splitting OMIM:181405 TRPV4 59341 HP:0003634 Amyoplasia OMIM:181405 TRPV4 59341 HP:0003307 Hyperlordosis OMIM:181405 TRPV4 59341 HP:0003829 Incomplete penetrance OMIM:181405 TRPV4 59341 HP:0030084 Clinodactyly OMIM:181405 TRPV4 59341 HP:0009063 Progressive distal muscle weakness OMIM:181405 TRPV4 59341 HP:0002136 Broad-based gait OMIM:181405 TRPV4 59341 HP:0003691 Scapular winging OMIM:181405 TRPV4 59341 HP:0002936 Distal sensory impairment OMIM:181405 TRPV4 59341 HP:0001840 Metatarsus adductus OMIM:181405 TRPV4 59341 HP:0008955 Progressive distal muscular atrophy OMIM:181405 TRPV4 59341 HP:0007178 Motor polyneuropathy OMIM:181405 TRPV4 59341 HP:0010628 Facial palsy OMIM:181405 TRPV4 59341 HP:0002650 Scoliosis OMIM:181405 TRPV4 59341 HP:0001385 Hip dysplasia OMIM:181405 TRPV4 59341 HP:0003391 Gowers sign OMIM:181405 TRPV4 59341 HP:0001284 Areflexia OMIM:181405 TRPV4 59341 HP:0000473 Torticollis OMIM:181405 TRPV4 59341 HP:0001265 Hyporeflexia OMIM:181405 TRPV4 59341 HP:0009060 Scapular muscle atrophy OMIM:181405 TRPV4 59341 HP:0000006 Autosomal dominant inheritance OMIM:181405 TRPV4 59341 HP:0002808 Kyphosis OMIM:181405 TRPV4 59341 HP:0001270 Motor delay OMIM:181405 TRPV4 59341 HP:0200055 Small hand OMIM:608572 TXNL4A 10907 HP:0000453 Choanal atresia OMIM:608572 TXNL4A 10907 HP:0008872 Feeding difficulties in infancy OMIM:608572 TXNL4A 10907 HP:0004322 Short stature OMIM:608572 TXNL4A 10907 HP:0000384 Preauricular skin tag OMIM:608572 TXNL4A 10907 HP:0003196 Short nose OMIM:608572 TXNL4A 10907 HP:0001631 Defect in the atrial septum OMIM:608572 TXNL4A 10907 HP:0200138 Bilateral choanal atresia/stenosis OMIM:608572 TXNL4A 10907 HP:0001629 Ventricular septal defect OMIM:608572 TXNL4A 10907 HP:0000007 Autosomal recessive inheritance OMIM:608572 TXNL4A 10907 HP:0000193 Bifid uvula OMIM:608572 TXNL4A 10907 HP:0000347 Micrognathia OMIM:608572 TXNL4A 10907 HP:0000405 Conductive hearing impairment OMIM:608572 TXNL4A 10907 HP:0000089 Renal hypoplasia OMIM:608572 TXNL4A 10907 HP:0000426 Prominent nasal bridge OMIM:608572 TXNL4A 10907 HP:0000316 Hypertelorism OMIM:608572 TXNL4A 10907 HP:0000160 Narrow mouth OMIM:608572 TXNL4A 10907 HP:0001939 Abnormality of metabolism/homeostasis OMIM:608572 TXNL4A 10907 HP:0000204 Cleft upper lip OMIM:608572 TXNL4A 10907 HP:0000322 Short philtrum OMIM:608572 TXNL4A 10907 HP:0000174 Abnormality of the palate OMIM:608572 TXNL4A 10907 HP:0000581 Blepharophimosis OMIM:608572 TXNL4A 10907 HP:0004691 2-3 toe syndactyly OMIM:608572 TXNL4A 10907 HP:0000430 Underdeveloped nasal alae OMIM:608572 TXNL4A 10907 HP:0000338 Hypomimic face OMIM:608572 TXNL4A 10907 HP:0000652 Lower eyelid coloboma OMIM:608572 TXNL4A 10907 HP:0012745 Short palpebral fissure OMIM:608572 TXNL4A 10907 HP:0000233 Thin vermilion border OMIM:608572 TXNL4A 10907 HP:0000411 Protruding ear OMIM:608572 TXNL4A 10907 HP:0000175 Cleft palate OMIM:608572 TXNL4A 10907 HP:0000303 Mandibular prognathia OMIM:608572 TXNL4A 10907 HP:0001671 Abnormality of the cardiac septa OMIM:182600 ATL1 51062 HP:0001347 Hyperreflexia OMIM:182600 ATL1 51062 HP:0003487 Babinski sign OMIM:182600 ATL1 51062 HP:0001425 Heterogeneous OMIM:182600 ATL1 51062 HP:0007340 Lower limb muscle weakness OMIM:182600 ATL1 51062 HP:0001258 Spastic paraplegia OMIM:182600 ATL1 51062 HP:0002064 Spastic gait OMIM:182600 ATL1 51062 HP:0003587 Insidious onset OMIM:182600 ATL1 51062 HP:0002079 Hypoplasia of the corpus callosum OMIM:182600 ATL1 51062 HP:0010550 Paraplegia OMIM:182600 ATL1 51062 HP:0002166 Impaired vibration sensation in the lower limbs OMIM:182600 ATL1 51062 HP:0000020 Urinary incontinence OMIM:182600 ATL1 51062 HP:0001256 Intellectual disability, mild OMIM:182600 ATL1 51062 HP:0002314 Degeneration of the lateral corticospinal tracts OMIM:182600 ATL1 51062 HP:0002650 Scoliosis OMIM:182600 ATL1 51062 HP:0001270 Motor delay OMIM:182600 ATL1 51062 HP:0003829 Incomplete penetrance OMIM:182600 ATL1 51062 HP:0008944 Distal lower limb amyotrophy OMIM:182600 ATL1 51062 HP:0003828 Variable expressivity OMIM:182600 ATL1 51062 HP:0000012 Urinary urgency OMIM:182600 ATL1 51062 HP:0000006 Autosomal dominant inheritance OMIM:182600 ATL1 51062 HP:0001761 Pes cavus OMIM:182600 ATL1 51062 HP:0002839 Urinary bladder sphincter dysfunction OMIM:218800 UGT1A1 54658 HP:0000365 Hearing impairment OMIM:218800 UGT1A1 54658 HP:0000007 Autosomal recessive inheritance OMIM:218800 UGT1A1 54658 HP:0002354 Memory impairment OMIM:218800 UGT1A1 54658 HP:0001250 Seizures OMIM:218800 UGT1A1 54658 HP:0000952 Jaundice OMIM:218800 UGT1A1 54658 HP:0001298 Encephalopathy OMIM:218800 UGT1A1 54658 HP:0000597 Ophthalmoparesis OMIM:218800 UGT1A1 54658 HP:0008282 Unconjugated hyperbilirubinemia OMIM:218800 UGT1A1 54658 HP:0001392 Abnormality of the liver OMIM:218800 UGT1A1 54658 HP:0001343 Kernicterus OMIM:613068 FOLR1 2348 HP:0002376 Developmental regression OMIM:613068 FOLR1 2348 HP:0000007 Autosomal recessive inheritance OMIM:613068 FOLR1 2348 HP:0001249 Intellectual disability OMIM:613068 FOLR1 2348 HP:0001250 Seizures OMIM:613068 FOLR1 2348 HP:0002180 Neurodegeneration OMIM:225060 PVRL1 5818 HP:0009804 Reduced number of teeth OMIM:225060 PVRL1 5818 HP:0001770 Toe syndactyly OMIM:225060 PVRL1 5818 HP:0000674 Anodontia OMIM:225060 PVRL1 5818 HP:0000954 Single transverse palmar crease OMIM:225060 PVRL1 5818 HP:0008388 Abnormality of the toenails OMIM:225060 PVRL1 5818 HP:0000966 Hypohidrosis OMIM:225060 PVRL1 5818 HP:0002353 EEG abnormality OMIM:225060 PVRL1 5818 HP:0003777 Pili torti OMIM:225060 PVRL1 5818 HP:0006482 Abnormality of dental morphology OMIM:225060 PVRL1 5818 HP:0010719 Abnormality of hair texture OMIM:225060 PVRL1 5818 HP:0000204 Cleft upper lip OMIM:225060 PVRL1 5818 HP:0002167 Neurological speech impairment OMIM:225060 PVRL1 5818 HP:0000431 Wide nasal bridge OMIM:225060 PVRL1 5818 HP:0000046 Scrotal hypoplasia OMIM:225060 PVRL1 5818 HP:0010669 Cheekbone underdevelopment OMIM:225060 PVRL1 5818 HP:0000288 Abnormality of the philtrum OMIM:225060 PVRL1 5818 HP:0002205 Recurrent respiratory infections OMIM:225060 PVRL1 5818 HP:0001231 Abnormality of the fingernails OMIM:225060 PVRL1 5818 HP:0000668 Hypodontia OMIM:225060 PVRL1 5818 HP:0000670 Carious teeth OMIM:225060 PVRL1 5818 HP:0005338 Sparse lateral eyebrow OMIM:225060 PVRL1 5818 HP:0000272 Malar flattening OMIM:225060 PVRL1 5818 HP:0010554 Cutaneous finger syndactyly OMIM:225060 PVRL1 5818 HP:0000175 Cleft palate OMIM:225060 PVRL1 5818 HP:0000682 Abnormality of dental enamel OMIM:225060 PVRL1 5818 HP:0000535 Sparse eyebrow OMIM:225060 PVRL1 5818 HP:0000664 Synophrys OMIM:225060 PVRL1 5818 HP:0000962 Hyperkeratosis OMIM:225060 PVRL1 5818 HP:0000069 Abnormality of the ureter OMIM:225060 PVRL1 5818 HP:0004404 Abnormality of the nipple OMIM:225060 PVRL1 5818 HP:0000598 Abnormality of the ear OMIM:225060 PVRL1 5818 HP:0000968 Ectodermal dysplasia OMIM:225060 PVRL1 5818 HP:0006101 Finger syndactyly OMIM:225060 PVRL1 5818 HP:0001596 Alopecia OMIM:225060 PVRL1 5818 HP:0100543 Cognitive impairment OMIM:225060 PVRL1 5818 HP:0000494 Downslanted palpebral fissures OMIM:225060 PVRL1 5818 HP:0000972 Palmoplantar hyperkeratosis OMIM:225060 PVRL1 5818 HP:0000400 Macrotia OMIM:225060 PVRL1 5818 HP:0003307 Hyperlordosis OMIM:225060 PVRL1 5818 HP:0000007 Autosomal recessive inheritance OMIM:225060 PVRL1 5818 HP:0000691 Microdontia OMIM:225060 PVRL1 5818 HP:0002164 Nail dysplasia OMIM:225060 PVRL1 5818 HP:0001250 Seizures OMIM:225060 PVRL1 5818 HP:0002553 Highly arched eyebrow OMIM:225060 PVRL1 5818 HP:0000325 Triangular face OMIM:225060 PVRL1 5818 HP:0002296 Progressive hypotrichosis OMIM:225060 PVRL1 5818 HP:0000653 Sparse eyelashes OMIM:225060 PVRL1 5818 HP:0000347 Micrognathia OMIM:225060 PVRL1 5818 HP:0010621 Cutaneous syndactyly of toes OMIM:613194 BEST1 7439 HP:0000662 Night blindness OMIM:613194 BEST1 7439 HP:0012045 Retinal flecks OMIM:613194 BEST1 7439 HP:0007843 Attenuation of retinal blood vessels OMIM:613194 BEST1 7439 HP:0000512 Abnormal electroretinogram OMIM:613194 BEST1 7439 HP:0000510 Retinitis pigmentosa OMIM:613194 BEST1 7439 HP:0000006 Autosomal dominant inheritance OMIM:613194 BEST1 7439 HP:0007663 Decreased central vision OMIM:613194 BEST1 7439 HP:0000543 Optic disc pallor OMIM:613194 BEST1 7439 HP:0000541 Retinal detachment OMIM:305400 FGD1 2245 HP:0001249 Intellectual disability OMIM:305400 FGD1 2245 HP:0000204 Cleft upper lip OMIM:305400 FGD1 2245 HP:0000049 Shawl scrotum OMIM:305400 FGD1 2245 HP:0000175 Cleft palate OMIM:305400 FGD1 2245 HP:0004279 Short palm OMIM:305400 FGD1 2245 HP:0000508 Ptosis OMIM:305400 FGD1 2245 HP:0000349 Widow's peak OMIM:305400 FGD1 2245 HP:0000494 Downslanted palpebral fissures OMIM:305400 FGD1 2245 HP:0001156 Brachydactyly syndrome OMIM:305400 FGD1 2245 HP:0000327 Hypoplasia of the maxilla OMIM:305400 FGD1 2245 HP:0003196 Short nose OMIM:305400 FGD1 2245 HP:0001508 Failure to thrive OMIM:305400 FGD1 2245 HP:0000668 Hypodontia OMIM:305400 FGD1 2245 HP:0002650 Scoliosis OMIM:305400 FGD1 2245 HP:0006158 Finger joint hyperextensibility OMIM:305400 FGD1 2245 HP:0000470 Short neck OMIM:305400 FGD1 2245 HP:0001419 X-linked recessive inheritance OMIM:305400 FGD1 2245 HP:0000311 Round face OMIM:305400 FGD1 2245 HP:0030084 Clinodactyly OMIM:305400 FGD1 2245 HP:0000431 Wide nasal bridge OMIM:305400 FGD1 2245 HP:0000767 Pectus excavatum OMIM:305400 FGD1 2245 HP:0003502 Mild short stature OMIM:305400 FGD1 2245 HP:0000463 Anteverted nares OMIM:305400 FGD1 2245 HP:0003318 Cervical spine hypermobility OMIM:305400 FGD1 2245 HP:0001544 Prominent umbilicus OMIM:305400 FGD1 2245 HP:0009466 Radial deviation of finger OMIM:305400 FGD1 2245 HP:0000540 Hypermetropia OMIM:305400 FGD1 2245 HP:0000954 Single transverse palmar crease OMIM:305400 FGD1 2245 HP:0001773 Short foot OMIM:305400 FGD1 2245 HP:0003311 Hypoplasia of the odontoid process OMIM:305400 FGD1 2245 HP:0001769 Broad foot OMIM:305400 FGD1 2245 HP:0000023 Inguinal hernia OMIM:305400 FGD1 2245 HP:0000486 Strabismus OMIM:305400 FGD1 2245 HP:0000316 Hypertelorism OMIM:305400 FGD1 2245 HP:0001169 Broad palm OMIM:305400 FGD1 2245 HP:0012774 Increased upper to lower segment ratio OMIM:305400 FGD1 2245 HP:0009748 Large earlobe OMIM:305400 FGD1 2245 HP:0000289 Broad philtrum OMIM:305400 FGD1 2245 HP:0007018 Attention deficit hyperactivity disorder OMIM:305400 FGD1 2245 HP:0002055 Curved linear dimple below the lower lip OMIM:305400 FGD1 2245 HP:0001159 Syndactyly OMIM:305400 FGD1 2245 HP:0000028 Cryptorchidism OMIM:305400 FGD1 2245 HP:0000823 Delayed puberty OMIM:616039 COX6A1 1337 HP:0002936 Distal sensory impairment OMIM:616039 COX6A1 1337 HP:0003383 Onion bulb formation OMIM:616039 COX6A1 1337 HP:0001284 Areflexia OMIM:616039 COX6A1 1337 HP:0001761 Pes cavus OMIM:616039 COX6A1 1337 HP:0001265 Hyporeflexia OMIM:616039 COX6A1 1337 HP:0009027 Foot dorsiflexor weakness OMIM:616039 COX6A1 1337 HP:0003376 Steppage gait OMIM:256600 PLA2G6 8398 HP:0002529 Neuronal loss in central nervous system OMIM:256600 PLA2G6 8398 HP:0002317 Unsteady gait OMIM:256600 PLA2G6 8398 HP:0000007 Autosomal recessive inheritance OMIM:256600 PLA2G6 8398 HP:0001263 Global developmental delay OMIM:256600 PLA2G6 8398 HP:0001347 Hyperreflexia OMIM:256600 PLA2G6 8398 HP:0002376 Developmental regression OMIM:256600 PLA2G6 8398 HP:0001252 Muscular hypotonia OMIM:256600 PLA2G6 8398 HP:0003196 Short nose OMIM:256600 PLA2G6 8398 HP:0002510 Spastic tetraplegia OMIM:256600 PLA2G6 8398 HP:0001249 Intellectual disability OMIM:256600 PLA2G6 8398 HP:0000649 Abnormality of vision evoked potentials OMIM:256600 PLA2G6 8398 HP:0002007 Frontal bossing OMIM:256600 PLA2G6 8398 HP:0001250 Seizures OMIM:256600 PLA2G6 8398 HP:0000572 Visual loss OMIM:256600 PLA2G6 8398 HP:0001939 Abnormality of metabolism/homeostasis OMIM:256600 PLA2G6 8398 HP:0007256 Abnormal pyramidal signs OMIM:256600 PLA2G6 8398 HP:0000762 Decreased nerve conduction velocity OMIM:256600 PLA2G6 8398 HP:0000486 Strabismus OMIM:256600 PLA2G6 8398 HP:0001251 Ataxia OMIM:256600 PLA2G6 8398 HP:0001284 Areflexia OMIM:256600 PLA2G6 8398 HP:0003444 EMG: chronic denervation signs OMIM:256600 PLA2G6 8398 HP:0000347 Micrognathia OMIM:256600 PLA2G6 8398 HP:0000648 Optic atrophy OMIM:256600 PLA2G6 8398 HP:0002062 Morphological abnormality of the pyramidal tract OMIM:256600 PLA2G6 8398 HP:0011220 Prominent forehead OMIM:256600 PLA2G6 8398 HP:0000365 Hearing impairment OMIM:256600 PLA2G6 8398 HP:0003324 Generalized muscle weakness OMIM:256600 PLA2G6 8398 HP:0000639 Nystagmus OMIM:256600 PLA2G6 8398 HP:0001272 Cerebellar atrophy OMIM:256600 PLA2G6 8398 HP:0003593 Infantile onset OMIM:256600 PLA2G6 8398 HP:0002059 Cerebral atrophy OMIM:256600 PLA2G6 8398 HP:0002171 Gliosis OMIM:256600 PLA2G6 8398 HP:0002180 Neurodegeneration ORPHANET:220393 CTGF 1490 HP:0100735 Hypertensive crisis ORPHANET:220393 CTGF 1490 HP:0002113 Pulmonary infiltrates ORPHANET:220393 CTGF 1490 HP:0008872 Feeding difficulties in infancy ORPHANET:220393 CTGF 1490 HP:0002829 Arthralgia ORPHANET:220393 CTGF 1490 HP:0001369 Arthritis ORPHANET:220393 CTGF 1490 HP:0001371 Flexion contracture ORPHANET:220393 CTGF 1490 HP:0002024 Malabsorption ORPHANET:220393 CTGF 1490 HP:0002797 Osteolysis ORPHANET:220393 CTGF 1490 HP:0000217 Xerostomia ORPHANET:220393 CTGF 1490 HP:0002017 Nausea and vomiting ORPHANET:220393 CTGF 1490 HP:0000670 Carious teeth ORPHANET:220393 CTGF 1490 HP:0001635 Congestive heart failure ORPHANET:220393 CTGF 1490 HP:0000934 Chondrocalcinosis ORPHANET:220393 CTGF 1490 HP:0200042 Skin ulcer ORPHANET:220393 CTGF 1490 HP:0100585 Teleangiectasia of the skin ORPHANET:220393 CTGF 1490 HP:0002960 Autoimmunity ORPHANET:220393 CTGF 1490 HP:0002092 Pulmonary hypertension ORPHANET:220393 CTGF 1490 HP:0001324 Muscle weakness ORPHANET:220393 CTGF 1490 HP:0002206 Pulmonary fibrosis ORPHANET:220393 CTGF 1490 HP:0001063 Acrocyanosis ORPHANET:220393 CTGF 1490 HP:0000958 Dry skin ORPHANET:220393 CTGF 1490 HP:0002093 Respiratory insufficiency ORPHANET:220393 CTGF 1490 HP:0000083 Renal insufficiency ORPHANET:220393 CCR6 1235 HP:0100735 Hypertensive crisis ORPHANET:220393 CCR6 1235 HP:0002113 Pulmonary infiltrates ORPHANET:220393 CCR6 1235 HP:0008872 Feeding difficulties in infancy ORPHANET:220393 CCR6 1235 HP:0002829 Arthralgia ORPHANET:220393 CCR6 1235 HP:0001369 Arthritis ORPHANET:220393 CCR6 1235 HP:0001371 Flexion contracture ORPHANET:220393 CCR6 1235 HP:0002024 Malabsorption ORPHANET:220393 CCR6 1235 HP:0002797 Osteolysis ORPHANET:220393 CCR6 1235 HP:0000217 Xerostomia ORPHANET:220393 CCR6 1235 HP:0002017 Nausea and vomiting ORPHANET:220393 CCR6 1235 HP:0000670 Carious teeth ORPHANET:220393 CCR6 1235 HP:0001635 Congestive heart failure ORPHANET:220393 CCR6 1235 HP:0000934 Chondrocalcinosis ORPHANET:220393 CCR6 1235 HP:0200042 Skin ulcer ORPHANET:220393 CCR6 1235 HP:0100585 Teleangiectasia of the skin ORPHANET:220393 CCR6 1235 HP:0002960 Autoimmunity ORPHANET:220393 CCR6 1235 HP:0002092 Pulmonary hypertension ORPHANET:220393 CCR6 1235 HP:0001324 Muscle weakness ORPHANET:220393 CCR6 1235 HP:0002206 Pulmonary fibrosis ORPHANET:220393 CCR6 1235 HP:0001063 Acrocyanosis ORPHANET:220393 CCR6 1235 HP:0000958 Dry skin ORPHANET:220393 CCR6 1235 HP:0002093 Respiratory insufficiency ORPHANET:220393 CCR6 1235 HP:0000083 Renal insufficiency ORPHANET:220393 IRF5 3663 HP:0100735 Hypertensive crisis ORPHANET:220393 IRF5 3663 HP:0002113 Pulmonary infiltrates ORPHANET:220393 IRF5 3663 HP:0008872 Feeding difficulties in infancy ORPHANET:220393 IRF5 3663 HP:0002829 Arthralgia ORPHANET:220393 IRF5 3663 HP:0001369 Arthritis ORPHANET:220393 IRF5 3663 HP:0001371 Flexion contracture ORPHANET:220393 IRF5 3663 HP:0002024 Malabsorption ORPHANET:220393 IRF5 3663 HP:0002797 Osteolysis ORPHANET:220393 IRF5 3663 HP:0000217 Xerostomia ORPHANET:220393 IRF5 3663 HP:0002017 Nausea and vomiting ORPHANET:220393 IRF5 3663 HP:0000670 Carious teeth ORPHANET:220393 IRF5 3663 HP:0001635 Congestive heart failure ORPHANET:220393 IRF5 3663 HP:0000934 Chondrocalcinosis ORPHANET:220393 IRF5 3663 HP:0200042 Skin ulcer ORPHANET:220393 IRF5 3663 HP:0100585 Teleangiectasia of the skin ORPHANET:220393 IRF5 3663 HP:0002960 Autoimmunity ORPHANET:220393 IRF5 3663 HP:0002092 Pulmonary hypertension ORPHANET:220393 IRF5 3663 HP:0001324 Muscle weakness ORPHANET:220393 IRF5 3663 HP:0002206 Pulmonary fibrosis ORPHANET:220393 IRF5 3663 HP:0001063 Acrocyanosis ORPHANET:220393 IRF5 3663 HP:0000958 Dry skin ORPHANET:220393 IRF5 3663 HP:0002093 Respiratory insufficiency ORPHANET:220393 IRF5 3663 HP:0000083 Renal insufficiency ORPHANET:220393 HLA-DRB1 3123 HP:0100735 Hypertensive crisis ORPHANET:220393 HLA-DRB1 3123 HP:0002113 Pulmonary infiltrates ORPHANET:220393 HLA-DRB1 3123 HP:0008872 Feeding difficulties in infancy ORPHANET:220393 HLA-DRB1 3123 HP:0002829 Arthralgia ORPHANET:220393 HLA-DRB1 3123 HP:0001369 Arthritis ORPHANET:220393 HLA-DRB1 3123 HP:0001371 Flexion contracture ORPHANET:220393 HLA-DRB1 3123 HP:0002024 Malabsorption ORPHANET:220393 HLA-DRB1 3123 HP:0002797 Osteolysis ORPHANET:220393 HLA-DRB1 3123 HP:0000217 Xerostomia ORPHANET:220393 HLA-DRB1 3123 HP:0002017 Nausea and vomiting ORPHANET:220393 HLA-DRB1 3123 HP:0000670 Carious teeth ORPHANET:220393 HLA-DRB1 3123 HP:0001635 Congestive heart failure ORPHANET:220393 HLA-DRB1 3123 HP:0000934 Chondrocalcinosis ORPHANET:220393 HLA-DRB1 3123 HP:0200042 Skin ulcer ORPHANET:220393 HLA-DRB1 3123 HP:0100585 Teleangiectasia of the skin ORPHANET:220393 HLA-DRB1 3123 HP:0002960 Autoimmunity ORPHANET:220393 HLA-DRB1 3123 HP:0002092 Pulmonary hypertension ORPHANET:220393 HLA-DRB1 3123 HP:0001324 Muscle weakness ORPHANET:220393 HLA-DRB1 3123 HP:0002206 Pulmonary fibrosis ORPHANET:220393 HLA-DRB1 3123 HP:0001063 Acrocyanosis ORPHANET:220393 HLA-DRB1 3123 HP:0000958 Dry skin ORPHANET:220393 HLA-DRB1 3123 HP:0002093 Respiratory insufficiency ORPHANET:220393 HLA-DRB1 3123 HP:0000083 Renal insufficiency ORPHANET:220393 CAV1 857 HP:0100735 Hypertensive crisis ORPHANET:220393 CAV1 857 HP:0002113 Pulmonary infiltrates ORPHANET:220393 CAV1 857 HP:0008872 Feeding difficulties in infancy ORPHANET:220393 CAV1 857 HP:0002829 Arthralgia ORPHANET:220393 CAV1 857 HP:0001369 Arthritis ORPHANET:220393 CAV1 857 HP:0001371 Flexion contracture ORPHANET:220393 CAV1 857 HP:0002024 Malabsorption ORPHANET:220393 CAV1 857 HP:0002797 Osteolysis ORPHANET:220393 CAV1 857 HP:0000217 Xerostomia ORPHANET:220393 CAV1 857 HP:0002017 Nausea and vomiting ORPHANET:220393 CAV1 857 HP:0000670 Carious teeth ORPHANET:220393 CAV1 857 HP:0001635 Congestive heart failure ORPHANET:220393 CAV1 857 HP:0000934 Chondrocalcinosis ORPHANET:220393 CAV1 857 HP:0200042 Skin ulcer ORPHANET:220393 CAV1 857 HP:0100585 Teleangiectasia of the skin ORPHANET:220393 CAV1 857 HP:0002960 Autoimmunity ORPHANET:220393 CAV1 857 HP:0002092 Pulmonary hypertension ORPHANET:220393 CAV1 857 HP:0001324 Muscle weakness ORPHANET:220393 CAV1 857 HP:0002206 Pulmonary fibrosis ORPHANET:220393 CAV1 857 HP:0001063 Acrocyanosis ORPHANET:220393 CAV1 857 HP:0000958 Dry skin ORPHANET:220393 CAV1 857 HP:0002093 Respiratory insufficiency ORPHANET:220393 CAV1 857 HP:0000083 Renal insufficiency OMIM:173650 FERMT1 55612 HP:0007561 Telangiectases in sun-exposed and nonexposed skin OMIM:173650 FERMT1 55612 HP:0001030 Fragile skin OMIM:173650 FERMT1 55612 HP:0005585 Spotty hyperpigmentation OMIM:173650 FERMT1 55612 HP:0001807 Ridged nail OMIM:173650 FERMT1 55612 HP:0000704 Periodontitis OMIM:173650 FERMT1 55612 HP:0000007 Autosomal recessive inheritance OMIM:173650 FERMT1 55612 HP:0000670 Carious teeth OMIM:173650 FERMT1 55612 HP:0000972 Palmoplantar hyperkeratosis OMIM:173650 FERMT1 55612 HP:0001741 Phimosis OMIM:173650 FERMT1 55612 HP:0004334 Dermal atrophy OMIM:173650 FERMT1 55612 HP:0007488 Diffuse skin atrophy OMIM:173650 FERMT1 55612 HP:0009775 Amniotic constriction ring OMIM:173650 FERMT1 55612 HP:0000992 Cutaneous photosensitivity OMIM:173650 FERMT1 55612 HP:0005590 Spotty hypopigmentation OMIM:253280 POMGNT1 55624 HP:0000485 Megalocornea OMIM:253280 POMGNT1 55624 HP:0007973 Retinal dysplasia OMIM:253280 POMGNT1 55624 HP:0001336 Myoclonus OMIM:253280 POMGNT1 55624 HP:0007759 Opacification of the corneal stroma OMIM:253280 POMGNT1 55624 HP:0007033 Cerebellar dysplasia OMIM:253280 POMGNT1 55624 HP:0003560 Muscular dystrophy OMIM:253280 POMGNT1 55624 HP:0002353 EEG abnormality OMIM:253280 POMGNT1 55624 HP:0001324 Muscle weakness OMIM:253280 POMGNT1 55624 HP:0002126 Polymicrogyria OMIM:253280 POMGNT1 55624 HP:0003194 Short nasal bridge OMIM:253280 POMGNT1 55624 HP:0002187 Intellectual disability, profound OMIM:253280 POMGNT1 55624 HP:0000639 Nystagmus OMIM:253280 POMGNT1 55624 HP:0002365 Hypoplasia of the brainstem OMIM:253280 POMGNT1 55624 HP:0007770 Retinal hypoplasia OMIM:253280 POMGNT1 55624 HP:0001321 Cerebellar hypoplasia OMIM:253280 POMGNT1 55624 HP:0001425 Heterogeneous OMIM:253280 POMGNT1 55624 HP:0001105 Retinal atrophy OMIM:253280 POMGNT1 55624 HP:0003812 Phenotypic variability OMIM:253280 POMGNT1 55624 HP:0000654 Decreased electroretinogram (ERG) amplitude OMIM:253280 POMGNT1 55624 HP:0000980 Pallor OMIM:253280 POMGNT1 55624 HP:0000648 Optic atrophy OMIM:253280 POMGNT1 55624 HP:0003236 Elevated serum creatine phosphokinase OMIM:253280 POMGNT1 55624 HP:0006829 Severe muscular hypotonia OMIM:253280 POMGNT1 55624 HP:0007738 Uncontrolled eye movements OMIM:253280 POMGNT1 55624 HP:0003324 Generalized muscle weakness OMIM:253280 POMGNT1 55624 HP:0008012 Congenital myopia OMIM:253280 POMGNT1 55624 HP:0008045 Enlarged flash visual evoked potentials OMIM:253280 POMGNT1 55624 HP:0000232 Everted lower lip vermilion OMIM:253280 POMGNT1 55624 HP:0001257 Spasticity OMIM:253280 POMGNT1 55624 HP:0001250 Seizures OMIM:253280 POMGNT1 55624 HP:0000518 Cataract OMIM:253280 POMGNT1 55624 HP:0007260 Type II lissencephaly OMIM:253280 POMGNT1 55624 HP:0003577 Congenital onset OMIM:253280 POMGNT1 55624 HP:0011800 Midface retrusion OMIM:253280 POMGNT1 55624 HP:0000557 Buphthalmos OMIM:253280 POMGNT1 55624 HP:0000272 Malar flattening OMIM:253280 POMGNT1 55624 HP:0000568 Microphthalmos OMIM:253280 POMGNT1 55624 HP:0000589 Coloboma OMIM:253280 POMGNT1 55624 HP:0000546 Retinal degeneration OMIM:253280 POMGNT1 55624 HP:0000486 Strabismus OMIM:253280 POMGNT1 55624 HP:0001302 Pachygyria OMIM:253280 POMGNT1 55624 HP:0000550 Abolished electroretinogram (ERG) OMIM:253280 POMGNT1 55624 HP:0002350 Cerebellar cyst OMIM:253280 POMGNT1 55624 HP:0010864 Intellectual disability, severe OMIM:253280 POMGNT1 55624 HP:0000347 Micrognathia OMIM:253280 POMGNT1 55624 HP:0000007 Autosomal recessive inheritance OMIM:253280 POMGNT1 55624 HP:0011344 Severe global developmental delay OMIM:253280 POMGNT1 55624 HP:0002119 Ventriculomegaly OMIM:253280 POMGNT1 55624 HP:0000252 Microcephaly OMIM:253280 POMGNT1 55624 HP:0000238 Hydrocephalus OMIM:253280 POMGNT1 55624 HP:0001290 Generalized hypotonia OMIM:140000 HOXA13 3209 HP:0000074 Ureteropelvic junction obstruction OMIM:140000 HOXA13 3209 HP:0005268 Spontaneous abortion OMIM:140000 HOXA13 3209 HP:0010034 Short 1st metacarpal OMIM:140000 HOXA13 3209 HP:0008740 Longitudinal vaginal septum OMIM:140000 HOXA13 3209 HP:0001629 Ventricular septal defect OMIM:140000 HOXA13 3209 HP:0000047 Hypospadias OMIM:140000 HOXA13 3209 HP:0009882 Short distal phalanx of finger OMIM:140000 HOXA13 3209 HP:0000076 Vesicoureteral reflux OMIM:140000 HOXA13 3209 HP:0008080 Hallux varus OMIM:140000 HOXA13 3209 HP:0000486 Strabismus OMIM:140000 HOXA13 3209 HP:0010105 Short first metatarsal OMIM:140000 HOXA13 3209 HP:0008368 Tarsal synostosis OMIM:140000 HOXA13 3209 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:140000 HOXA13 3209 HP:0001163 Abnormality of the metacarpal bones OMIM:140000 HOXA13 3209 HP:0001216 Delayed ossification of carpal bones OMIM:140000 HOXA13 3209 HP:0000010 Recurrent urinary tract infections OMIM:140000 HOXA13 3209 HP:0001162 Postaxial hand polydactyly OMIM:140000 HOXA13 3209 HP:0010624 Aplastic/hypoplastic toenail OMIM:140000 HOXA13 3209 HP:0004209 Clinodactyly of the 5th finger OMIM:140000 HOXA13 3209 HP:0005048 Synostosis of carpal bones OMIM:140000 HOXA13 3209 HP:0010109 Short hallux OMIM:140000 HOXA13 3209 HP:0000356 Abnormality of the outer ear OMIM:140000 HOXA13 3209 HP:0009464 Ulnar deviation of the 2nd finger OMIM:140000 HOXA13 3209 HP:0008103 Delayed tarsal ossification OMIM:140000 HOXA13 3209 HP:0001885 Short 2nd toe OMIM:140000 HOXA13 3209 HP:0010584 Pseudoepiphyses OMIM:140000 HOXA13 3209 HP:0009237 Short 5th finger OMIM:140000 HOXA13 3209 HP:0003762 Uterus didelphys OMIM:140000 HOXA13 3209 HP:0000041 Chordee OMIM:140000 HOXA13 3209 HP:0007477 Abnormal dermatoglyphics OMIM:140000 HOXA13 3209 HP:0000960 Sacral dimple OMIM:140000 HOXA13 3209 HP:0001245 Small thenar eminence OMIM:140000 HOXA13 3209 HP:0100627 Displacement of the external urethral meatus OMIM:140000 HOXA13 3209 HP:0006110 Shortening of all middle phalanges of the fingers OMIM:140000 HOXA13 3209 HP:0000054 Micropenis OMIM:140000 HOXA13 3209 HP:0000083 Renal insufficiency OMIM:140000 HOXA13 3209 HP:0009623 Proximal placement of thumb OMIM:140000 HOXA13 3209 HP:0000006 Autosomal dominant inheritance OMIM:140000 HOXA13 3209 HP:0000048 Bifid scrotum OMIM:140000 HOXA13 3209 HP:0000008 Abnormality of female internal genitalia OMIM:148050 ANKRD11 29123 HP:0000470 Short neck OMIM:148050 ANKRD11 29123 HP:0000506 Telecanthus OMIM:148050 ANKRD11 29123 HP:0000954 Single transverse palmar crease OMIM:148050 ANKRD11 29123 HP:0002162 Low posterior hairline OMIM:148050 ANKRD11 29123 HP:0002648 Abnormality of calvarial morphology OMIM:148050 ANKRD11 29123 HP:0003312 Abnormal form of the vertebral bodies OMIM:148050 ANKRD11 29123 HP:0000486 Strabismus OMIM:148050 ANKRD11 29123 HP:0000028 Cryptorchidism OMIM:148050 ANKRD11 29123 HP:0000772 Abnormality of the ribs OMIM:148050 ANKRD11 29123 HP:0001566 Widely-spaced maxillary central incisors OMIM:148050 ANKRD11 29123 HP:0008438 Vertebral arch anomaly OMIM:148050 ANKRD11 29123 HP:0001249 Intellectual disability OMIM:148050 ANKRD11 29123 HP:0000463 Anteverted nares OMIM:148050 ANKRD11 29123 HP:0009466 Radial deviation of finger OMIM:148050 ANKRD11 29123 HP:0000252 Microcephaly OMIM:148050 ANKRD11 29123 HP:0000324 Facial asymmetry OMIM:148050 ANKRD11 29123 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:148050 ANKRD11 29123 HP:0000160 Narrow mouth OMIM:148050 ANKRD11 29123 HP:0000343 Long philtrum OMIM:148050 ANKRD11 29123 HP:0002948 Vertebral fusion OMIM:148050 ANKRD11 29123 HP:0000677 Oligodontia OMIM:148050 ANKRD11 29123 HP:0001572 Macrodontia OMIM:148050 ANKRD11 29123 HP:0000311 Round face OMIM:148050 ANKRD11 29123 HP:0002942 Thoracic kyphosis OMIM:148050 ANKRD11 29123 HP:0004322 Short stature OMIM:148050 ANKRD11 29123 HP:0000175 Cleft palate OMIM:148050 ANKRD11 29123 HP:0100543 Cognitive impairment OMIM:148050 ANKRD11 29123 HP:0000316 Hypertelorism OMIM:148050 ANKRD11 29123 HP:0030084 Clinodactyly OMIM:148050 ANKRD11 29123 HP:0009804 Reduced number of teeth OMIM:148050 ANKRD11 29123 HP:0000307 Pointed chin OMIM:148050 ANKRD11 29123 HP:0000430 Underdeveloped nasal alae OMIM:148050 ANKRD11 29123 HP:0002750 Delayed skeletal maturation OMIM:148050 ANKRD11 29123 HP:0000891 Cervical ribs OMIM:148050 ANKRD11 29123 HP:0000400 Macrotia OMIM:148050 ANKRD11 29123 HP:0000682 Abnormality of dental enamel OMIM:148050 ANKRD11 29123 HP:0000325 Triangular face OMIM:148050 ANKRD11 29123 HP:0001263 Global developmental delay OMIM:148050 ANKRD11 29123 HP:0000574 Thick eyebrow OMIM:148050 ANKRD11 29123 HP:0000902 Rib fusion OMIM:148050 ANKRD11 29123 HP:0000368 Low-set, posteriorly rotated ears OMIM:148050 ANKRD11 29123 HP:0001159 Syndactyly OMIM:148050 ANKRD11 29123 HP:0006101 Finger syndactyly OMIM:148050 ANKRD11 29123 HP:0001162 Postaxial hand polydactyly OMIM:148050 ANKRD11 29123 HP:0000637 Long palpebral fissure OMIM:148050 ANKRD11 29123 HP:0001156 Brachydactyly syndrome OMIM:148050 ANKRD11 29123 HP:0000006 Autosomal dominant inheritance OMIM:148050 ANKRD11 29123 HP:0002823 Abnormality of the femur OMIM:148050 ANKRD11 29123 HP:0000294 Low anterior hairline OMIM:148050 ANKRD11 29123 HP:0000365 Hearing impairment OMIM:148050 ANKRD11 29123 HP:0002353 EEG abnormality ORPHANET:2680 ADCY6 112 HP:0001376 Limitation of joint mobility ORPHANET:2680 ADCY6 112 HP:0001315 Reduced tendon reflexes ORPHANET:2680 ADCY6 112 HP:0003457 EMG abnormality ORPHANET:2680 ADCY6 112 HP:0002093 Respiratory insufficiency ORPHANET:2680 ADCY6 112 HP:0001252 Muscular hypotonia ORPHANET:2680 CNTNAP1 8506 HP:0001376 Limitation of joint mobility ORPHANET:2680 CNTNAP1 8506 HP:0001315 Reduced tendon reflexes ORPHANET:2680 CNTNAP1 8506 HP:0003457 EMG abnormality ORPHANET:2680 CNTNAP1 8506 HP:0002093 Respiratory insufficiency ORPHANET:2680 CNTNAP1 8506 HP:0001252 Muscular hypotonia OMIM:278700 XPA 7507 HP:0000252 Microcephaly OMIM:278700 XPA 7507 HP:0000407 Sensorineural hearing impairment OMIM:278700 XPA 7507 HP:0001251 Ataxia OMIM:278700 XPA 7507 HP:0000621 Entropion OMIM:278700 XPA 7507 HP:0001249 Intellectual disability OMIM:278700 XPA 7507 HP:0003079 Defective DNA repair after ultraviolet radiation damage OMIM:278700 XPA 7507 HP:0001265 Hyporeflexia OMIM:278700 XPA 7507 HP:0000613 Photophobia OMIM:278700 XPA 7507 HP:0000007 Autosomal recessive inheritance OMIM:278700 XPA 7507 HP:0001268 Mental deterioration OMIM:278700 XPA 7507 HP:0000656 Ectropion OMIM:278700 XPA 7507 HP:0001257 Spasticity OMIM:278700 XPA 7507 HP:0001009 Telangiectasia OMIM:278700 XPA 7507 HP:0000992 Cutaneous photosensitivity OMIM:278700 XPA 7507 HP:0001029 Poikiloderma OMIM:278700 XPA 7507 HP:0000491 Keratitis OMIM:278700 XPA 7507 HP:0000509 Conjunctivitis OMIM:278700 XPA 7507 HP:0004334 Dermal atrophy OMIM:278700 XPA 7507 HP:0001266 Choreoathetosis OMIM:615779 NR2F2 7026 HP:0006695 Atrioventricular canal defect OMIM:615779 NR2F2 7026 HP:0001650 Aortic valve stenosis OMIM:615779 NR2F2 7026 HP:0001629 Ventricular septal defect OMIM:615779 NR2F2 7026 HP:0001680 Coarctation of aorta OMIM:615779 NR2F2 7026 HP:0001636 Tetralogy of Fallot OMIM:615779 NR2F2 7026 HP:0004383 Hypoplastic left heart OMIM:614224 IGFBP7 3490 HP:0000007 Autosomal recessive inheritance OMIM:614224 IGFBP7 3490 HP:0012231 Exudative retinal detachment OMIM:614224 IGFBP7 3490 HP:0001642 Pulmonic stenosis OMIM:607847 GFI1 2672 HP:0004808 Acute myeloid leukemia OMIM:607847 GFI1 2672 HP:0000006 Autosomal dominant inheritance OMIM:607847 GFI1 2672 HP:0001875 Neutropenia OMIM:615420 PRIMPOL 201973 HP:0000505 Visual impairment OMIM:615420 PRIMPOL 201973 HP:0000545 Myopia OMIM:615420 PRIMPOL 201973 HP:0000006 Autosomal dominant inheritance OMIM:154700 FBN1 2200 HP:0000098 Tall stature OMIM:154700 FBN1 2200 HP:0001065 Striae distensae OMIM:154700 FBN1 2200 HP:0002631 Ascending aortic aneurysm OMIM:154700 FBN1 2200 HP:0001002 Decreased subcutaneous fat OMIM:154700 FBN1 2200 HP:0007676 Hypoplasia of the iris OMIM:154700 FBN1 2200 HP:0000541 Retinal detachment OMIM:154700 FBN1 2200 HP:0000545 Myopia OMIM:154700 FBN1 2200 HP:0000218 High palate OMIM:154700 FBN1 2200 HP:0003088 Premature osteoarthritis OMIM:154700 FBN1 2200 HP:0008132 Medial rotation of the medial malleolus OMIM:154700 FBN1 2200 HP:0001634 Mitral valve prolapse OMIM:154700 FBN1 2200 HP:0000272 Malar flattening OMIM:154700 FBN1 2200 HP:0001083 Ectopia lentis OMIM:154700 FBN1 2200 HP:0002107 Pneumothorax OMIM:154700 FBN1 2200 HP:0000268 Dolichocephaly OMIM:154700 FBN1 2200 HP:0001653 Mitral regurgitation OMIM:154700 FBN1 2200 HP:0100775 Dural ectasia OMIM:154700 FBN1 2200 HP:0000347 Micrognathia OMIM:154700 FBN1 2200 HP:0003302 Spondylolisthesis OMIM:154700 FBN1 2200 HP:0002647 Aortic dissection OMIM:154700 FBN1 2200 HP:0004927 Pulmonary artery dilatation OMIM:154700 FBN1 2200 HP:0001548 Overgrowth OMIM:154700 FBN1 2200 HP:0001371 Flexion contracture OMIM:154700 FBN1 2200 HP:0001765 Hammertoe OMIM:154700 FBN1 2200 HP:0002616 Aortic root dilatation OMIM:154700 FBN1 2200 HP:0000189 Narrow palate OMIM:154700 FBN1 2200 HP:0000678 Dental crowding OMIM:154700 FBN1 2200 HP:0002816 Genu recurvatum OMIM:154700 FBN1 2200 HP:0003179 Protrusio acetabuli OMIM:154700 FBN1 2200 HP:0001166 Arachnodactyly OMIM:154700 FBN1 2200 HP:0000275 Narrow face OMIM:154700 FBN1 2200 HP:0000501 Glaucoma OMIM:154700 FBN1 2200 HP:0005136 Premature calcification of mitral annulus OMIM:154700 FBN1 2200 HP:0007800 Increased axial globe length OMIM:154700 FBN1 2200 HP:0001635 Congestive heart failure OMIM:154700 FBN1 2200 HP:0001763 Pes planus OMIM:154700 FBN1 2200 HP:0002097 Emphysema OMIM:154700 FBN1 2200 HP:0000768 Pectus carinatum OMIM:154700 FBN1 2200 HP:0000767 Pectus excavatum OMIM:154700 FBN1 2200 HP:0000006 Autosomal dominant inheritance OMIM:154700 FBN1 2200 HP:0000276 Long face OMIM:154700 FBN1 2200 HP:0001382 Joint hypermobility OMIM:154700 FBN1 2200 HP:0000490 Deeply set eye OMIM:154700 FBN1 2200 HP:0000494 Downslanted palpebral fissures OMIM:154700 FBN1 2200 HP:0000278 Retrognathia OMIM:154700 FBN1 2200 HP:0001761 Pes cavus OMIM:154700 FBN1 2200 HP:0000518 Cataract OMIM:154700 FBN1 2200 HP:0001704 Tricuspid valve prolapse OMIM:154700 FBN1 2200 HP:0003199 Decreased muscle mass OMIM:154700 FBN1 2200 HP:0002751 Kyphoscoliosis OMIM:154700 FBN1 2200 HP:0001659 Aortic regurgitation OMIM:154700 FBN1 2200 HP:0004872 Incisional hernia OMIM:602588 EYA1 2138 HP:0000006 Autosomal dominant inheritance OMIM:602588 EYA1 2138 HP:0008551 Microtia OMIM:602588 EYA1 2138 HP:0004458 Dilatated internal auditory canal OMIM:602588 EYA1 2138 HP:0000369 Low-set ears OMIM:602588 EYA1 2138 HP:0003828 Variable expressivity OMIM:602588 EYA1 2138 HP:0004467 Preauricular pit OMIM:602588 EYA1 2138 HP:0009795 Branchial fistula OMIM:602588 EYA1 2138 HP:0003829 Incomplete penetrance OMIM:602588 EYA1 2138 HP:0000410 Mixed hearing impairment OMIM:602588 EYA1 2138 HP:0000378 Cupped ear OMIM:602588 EYA1 2138 HP:0000278 Retrognathia OMIM:602588 EYA1 2138 HP:0008586 Hypoplasia of the cochlea OMIM:602588 EYA1 2138 HP:0008554 Cochlear malformation OMIM:614980 TAB2 23118 HP:0001724 Aortic dilatation OMIM:614980 TAB2 23118 HP:0001647 Bicuspid aortic valve OMIM:614980 TAB2 23118 HP:0001682 Subaortic stenosis OMIM:615750 GUCY1A3 2982 HP:0000965 Cutis marmorata OMIM:615750 GUCY1A3 2982 HP:0002140 Ischemic stroke OMIM:615750 GUCY1A3 2982 HP:0001250 Seizures OMIM:615750 GUCY1A3 2982 HP:0000802 Impotence OMIM:615750 GUCY1A3 2982 HP:0002571 Achalasia OMIM:615750 GUCY1A3 2982 HP:0002015 Dysphagia OMIM:615750 GUCY1A3 2982 HP:0001269 Hemiparesis OMIM:615750 GUCY1A3 2982 HP:0000822 Hypertension OMIM:613493 CD19 930 HP:0011108 Recurrent sinusitis OMIM:613493 CD19 930 HP:0004313 Hypogammaglobulinemia OMIM:613493 CD19 930 HP:0000509 Conjunctivitis OMIM:613493 CD19 930 HP:0000007 Autosomal recessive inheritance OMIM:613493 CD19 930 HP:0000403 Recurrent otitis media OMIM:613493 CD19 930 HP:0002721 Immunodeficiency OMIM:613493 CD19 930 HP:0002718 Recurrent bacterial infections OMIM:609057 CD151 977 HP:0007678 Lacrimal duct stenosis OMIM:609057 CD151 977 HP:0012221 Pretibial blistering OMIM:609057 CD151 977 HP:0000007 Autosomal recessive inheritance OMIM:609057 CD151 977 HP:0000407 Sensorineural hearing impairment OMIM:609057 CD151 977 HP:0008404 Nail dystrophy OMIM:609057 CD151 977 HP:0003774 Stage 5 chronic kidney disease OMIM:609057 CD151 977 HP:0011906 Reduced beta/alpha synthesis ratio OMIM:609057 CD151 977 HP:0000112 Nephropathy OMIM:609057 CD151 977 HP:0000123 Nephritis OMIM:611588 FKTN 2218 HP:0003593 Infantile onset OMIM:611588 FKTN 2218 HP:0003236 Elevated serum creatine phosphokinase OMIM:611588 FKTN 2218 HP:0001265 Hyporeflexia OMIM:611588 FKTN 2218 HP:0003828 Variable expressivity OMIM:611588 FKTN 2218 HP:0001371 Flexion contracture OMIM:611588 FKTN 2218 HP:0003307 Hyperlordosis OMIM:611588 FKTN 2218 HP:0001252 Muscular hypotonia OMIM:611588 FKTN 2218 HP:0003391 Gowers sign OMIM:611588 FKTN 2218 HP:0003560 Muscular dystrophy OMIM:611588 FKTN 2218 HP:0001762 Talipes equinovarus OMIM:611588 FKTN 2218 HP:0003676 Progressive disorder OMIM:611588 FKTN 2218 HP:0001270 Motor delay OMIM:611588 FKTN 2218 HP:0000007 Autosomal recessive inheritance OMIM:611588 FKTN 2218 HP:0000767 Pectus excavatum OMIM:611588 FKTN 2218 HP:0003712 Skeletal muscle hypertrophy OMIM:114290 SOX9 6662 HP:0011910 Shortening of all phalanges of fingers OMIM:114290 SOX9 6662 HP:0000878 11 pairs of ribs OMIM:114290 SOX9 6662 HP:0000256 Macrocephaly OMIM:114290 SOX9 6662 HP:0000347 Micrognathia OMIM:114290 SOX9 6662 HP:0002866 Hypoplastic iliac wing OMIM:114290 SOX9 6662 HP:0000316 Hypertelorism OMIM:114290 SOX9 6662 HP:0000365 Hearing impairment OMIM:114290 SOX9 6662 HP:0000883 Thin ribs OMIM:114290 SOX9 6662 HP:0008921 Neonatal short-limb short stature OMIM:114290 SOX9 6662 HP:0000175 Cleft palate OMIM:114290 SOX9 6662 HP:0002980 Femoral bowing OMIM:114290 SOX9 6662 HP:0005035 Shortening of all phalanges of the toes OMIM:114290 SOX9 6662 HP:0002786 Tracheobronchomalacia OMIM:114290 SOX9 6662 HP:0000274 Small face OMIM:114290 SOX9 6662 HP:0000260 Wide anterior fontanel OMIM:114290 SOX9 6662 HP:0000581 Blepharophimosis OMIM:114290 SOX9 6662 HP:0000369 Low-set ears OMIM:114290 SOX9 6662 HP:0000457 Depressed nasal ridge OMIM:114290 SOX9 6662 HP:0002098 Respiratory distress OMIM:114290 SOX9 6662 HP:0012245 Sex reversal OMIM:114290 SOX9 6662 HP:0001508 Failure to thrive OMIM:114290 SOX9 6662 HP:0002564 Malformation of the heart and great vessels OMIM:114290 SOX9 6662 HP:0006390 Anterior tibial bowing OMIM:114290 SOX9 6662 HP:0000882 Hypoplastic scapulae OMIM:114290 SOX9 6662 HP:0002104 Apnea OMIM:114290 SOX9 6662 HP:0002751 Kyphoscoliosis OMIM:114290 SOX9 6662 HP:0008434 Hypoplastic cervical vertebrae OMIM:114290 SOX9 6662 HP:0003038 Fibular hypoplasia OMIM:114290 SOX9 6662 HP:0000126 Hydronephrosis OMIM:114290 SOX9 6662 HP:0001561 Polyhydramnios OMIM:114290 SOX9 6662 HP:0005257 Thoracic hypoplasia OMIM:114290 SOX9 6662 HP:0002827 Hip dislocation OMIM:114290 SOX9 6662 HP:0000348 High forehead OMIM:114290 SOX9 6662 HP:0006628 Absent sternal ossification OMIM:114290 SOX9 6662 HP:0008873 Disproportionate short-limb short stature OMIM:114290 SOX9 6662 HP:0001252 Muscular hypotonia OMIM:114290 SOX9 6662 HP:0000238 Hydrocephalus OMIM:114290 SOX9 6662 HP:0008477 Poorly ossified cervical vertebrae OMIM:114290 SOX9 6662 HP:0005280 Depressed nasal bridge OMIM:114290 SOX9 6662 HP:0000006 Autosomal dominant inheritance OMIM:114290 SOX9 6662 HP:0012745 Short palpebral fissure OMIM:114290 SOX9 6662 HP:0001762 Talipes equinovarus OMIM:608355 RASA1 5921 HP:0000501 Glaucoma OMIM:608355 RASA1 5921 HP:0002813 Abnormality of limb bone morphology OMIM:608355 RASA1 5921 HP:0002076 Migraine OMIM:608355 RASA1 5921 HP:0100585 Teleangiectasia of the skin OMIM:608355 RASA1 5921 HP:0100559 Lower limb asymmetry OMIM:608355 RASA1 5921 HP:0001928 Abnormality of coagulation OMIM:608355 RASA1 5921 HP:0001635 Congestive heart failure OMIM:608355 RASA1 5921 HP:0005293 Venous insufficiency OMIM:608355 RASA1 5921 HP:0100784 Peripheral arteriovenous fistula OMIM:608355 RASA1 5921 HP:0004374 Hemiplegia/hemiparesis OMIM:608355 RASA1 5921 HP:0003712 Skeletal muscle hypertrophy OMIM:231200 GP1BA 2811 HP:0011877 Increased mean platelet volume OMIM:231200 GP1BA 2811 HP:0000421 Epistaxis OMIM:231200 GP1BA 2811 HP:0001873 Thrombocytopenia OMIM:231200 GP1BA 2811 HP:0001892 Abnormal bleeding OMIM:231200 GP1BA 2811 HP:0000979 Purpura OMIM:231200 GP1BA 2811 HP:0003010 Prolonged bleeding time OMIM:231200 GP1BA 2811 HP:0001438 Abnormality of the abdomen OMIM:231200 GP1BA 2811 HP:0000007 Autosomal recessive inheritance OMIM:231200 GP1BA 2811 HP:0000132 Menorrhagia OMIM:231200 GP9 2815 HP:0011877 Increased mean platelet volume OMIM:231200 GP9 2815 HP:0000421 Epistaxis OMIM:231200 GP9 2815 HP:0001873 Thrombocytopenia OMIM:231200 GP9 2815 HP:0001892 Abnormal bleeding OMIM:231200 GP9 2815 HP:0000979 Purpura OMIM:231200 GP9 2815 HP:0003010 Prolonged bleeding time OMIM:231200 GP9 2815 HP:0001438 Abnormality of the abdomen OMIM:231200 GP9 2815 HP:0000007 Autosomal recessive inheritance OMIM:231200 GP9 2815 HP:0000132 Menorrhagia OMIM:231200 GP1BB 2812 HP:0011877 Increased mean platelet volume OMIM:231200 GP1BB 2812 HP:0000421 Epistaxis OMIM:231200 GP1BB 2812 HP:0001873 Thrombocytopenia OMIM:231200 GP1BB 2812 HP:0001892 Abnormal bleeding OMIM:231200 GP1BB 2812 HP:0000979 Purpura OMIM:231200 GP1BB 2812 HP:0003010 Prolonged bleeding time OMIM:231200 GP1BB 2812 HP:0001438 Abnormality of the abdomen OMIM:231200 GP1BB 2812 HP:0000007 Autosomal recessive inheritance OMIM:231200 GP1BB 2812 HP:0000132 Menorrhagia OMIM:614651 PDSS1 23590 HP:0009830 Peripheral neuropathy OMIM:614651 PDSS1 23590 HP:0001256 Intellectual disability, mild OMIM:614651 PDSS1 23590 HP:0001659 Aortic regurgitation OMIM:614651 PDSS1 23590 HP:0000256 Macrocephaly OMIM:614651 PDSS1 23590 HP:0002151 Increased serum lactate OMIM:614651 PDSS1 23590 HP:0002092 Pulmonary hypertension OMIM:614651 PDSS1 23590 HP:0001513 Obesity OMIM:614651 PDSS1 23590 HP:0000965 Cutis marmorata OMIM:614651 PDSS1 23590 HP:0000648 Optic atrophy OMIM:614651 PDSS1 23590 HP:0001653 Mitral regurgitation OMIM:614651 PDSS1 23590 HP:0001284 Areflexia OMIM:614651 PDSS1 23590 HP:0000007 Autosomal recessive inheritance OMIM:300882 HDAC8 55869 HP:0000316 Hypertelorism OMIM:300882 HDAC8 55869 HP:0008872 Feeding difficulties in infancy OMIM:300882 HDAC8 55869 HP:0001417 X-linked inheritance OMIM:300882 HDAC8 55869 HP:0000426 Prominent nasal bridge OMIM:300882 HDAC8 55869 HP:0000965 Cutis marmorata OMIM:300882 HDAC8 55869 HP:0000218 High palate OMIM:300882 HDAC8 55869 HP:0000470 Short neck OMIM:300882 HDAC8 55869 HP:0004209 Clinodactyly of the 5th finger OMIM:300882 HDAC8 55869 HP:0002020 Gastroesophageal reflux OMIM:300882 HDAC8 55869 HP:0040082 Happy demeanor OMIM:300882 HDAC8 55869 HP:0002553 Highly arched eyebrow OMIM:300882 HDAC8 55869 HP:0001007 Hirsutism OMIM:300882 HDAC8 55869 HP:0001250 Seizures OMIM:300882 HDAC8 55869 HP:0000347 Micrognathia OMIM:300882 HDAC8 55869 HP:0000278 Retrognathia OMIM:300882 HDAC8 55869 HP:0001249 Intellectual disability OMIM:300882 HDAC8 55869 HP:0000455 Broad nasal tip OMIM:300882 HDAC8 55869 HP:0001263 Global developmental delay OMIM:300882 HDAC8 55869 HP:0008897 Postnatal growth retardation OMIM:300882 HDAC8 55869 HP:0001377 Limited elbow extension OMIM:300882 HDAC8 55869 HP:0005280 Depressed nasal bridge OMIM:300882 HDAC8 55869 HP:0000687 Widely spaced teeth OMIM:300882 HDAC8 55869 HP:0009623 Proximal placement of thumb OMIM:300882 HDAC8 55869 HP:0000294 Low anterior hairline OMIM:300882 HDAC8 55869 HP:0000365 Hearing impairment OMIM:300882 HDAC8 55869 HP:0000545 Myopia OMIM:300882 HDAC8 55869 HP:0002714 Downturned corners of mouth OMIM:300882 HDAC8 55869 HP:0000233 Thin vermilion border OMIM:300882 HDAC8 55869 HP:0200055 Small hand OMIM:300882 HDAC8 55869 HP:0000175 Cleft palate OMIM:300882 HDAC8 55869 HP:0000527 Long eyelashes OMIM:300882 HDAC8 55869 HP:0000343 Long philtrum OMIM:300882 HDAC8 55869 HP:0001773 Short foot OMIM:300882 HDAC8 55869 HP:0000506 Telecanthus OMIM:300882 HDAC8 55869 HP:0000248 Brachycephaly OMIM:300882 HDAC8 55869 HP:0000664 Synophrys OMIM:300882 HDAC8 55869 HP:0002119 Ventriculomegaly OMIM:300882 HDAC8 55869 HP:0001770 Toe syndactyly OMIM:300882 HDAC8 55869 HP:0000508 Ptosis OMIM:226600 COL7A1 1294 HP:0001798 Anonychia OMIM:226600 COL7A1 1294 HP:0006297 Hypoplasia of dental enamel OMIM:226600 COL7A1 1294 HP:0008066 Abnormal blistering of the skin OMIM:226600 COL7A1 1294 HP:0005203 Spontaneous esophageal perforation OMIM:226600 COL7A1 1294 HP:0002043 Esophageal stricture OMIM:226600 COL7A1 1294 HP:0002575 Tracheoesophageal fistula OMIM:226600 COL7A1 1294 HP:0002019 Constipation OMIM:226600 COL7A1 1294 HP:0001596 Alopecia OMIM:226600 COL7A1 1294 HP:0000559 Corneal scarring OMIM:226600 COL7A1 1294 HP:0004057 Mitten deformity OMIM:226600 COL7A1 1294 HP:0001639 Hypertrophic cardiomyopathy OMIM:226600 COL7A1 1294 HP:0010296 Ankyloglossia OMIM:226600 COL7A1 1294 HP:0000080 Abnormality of reproductive system physiology OMIM:226600 COL7A1 1294 HP:0001030 Fragile skin OMIM:226600 COL7A1 1294 HP:0001824 Weight loss OMIM:226600 COL7A1 1294 HP:0000112 Nephropathy OMIM:226600 COL7A1 1294 HP:0010624 Aplastic/hypoplastic toenail OMIM:226600 COL7A1 1294 HP:0000160 Narrow mouth OMIM:226600 COL7A1 1294 HP:0000083 Renal insufficiency OMIM:226600 COL7A1 1294 HP:0001056 Milia OMIM:226600 COL7A1 1294 HP:0000007 Autosomal recessive inheritance OMIM:226600 COL7A1 1294 HP:0200020 Corneal erosion OMIM:226600 COL7A1 1294 HP:0006101 Finger syndactyly OMIM:226600 COL7A1 1294 HP:0002015 Dysphagia OMIM:226600 COL7A1 1294 HP:0000505 Visual impairment OMIM:226600 COL7A1 1294 HP:0008404 Nail dystrophy OMIM:226600 COL7A1 1294 HP:0000670 Carious teeth OMIM:226600 COL7A1 1294 HP:0004395 Malnutrition OMIM:226600 COL7A1 1294 HP:0000509 Conjunctivitis OMIM:226600 COL7A1 1294 HP:0008872 Feeding difficulties in infancy OMIM:226600 COL7A1 1294 HP:0001770 Toe syndactyly OMIM:226600 COL7A1 1294 HP:0001903 Anemia OMIM:226600 COL7A1 1294 HP:0000365 Hearing impairment OMIM:226600 COL7A1 1294 HP:0002860 Squamous cell carcinoma OMIM:226600 COL7A1 1294 HP:0003577 Congenital onset OMIM:226600 COL7A1 1294 HP:0001371 Flexion contracture OMIM:226600 COL7A1 1294 HP:0001231 Abnormality of the fingernails OMIM:226600 COL7A1 1294 HP:0000518 Cataract OMIM:226600 COL7A1 1294 HP:0000498 Blepharitis OMIM:226600 COL7A1 1294 HP:0002164 Nail dysplasia OMIM:226600 COL7A1 1294 HP:0000989 Pruritus OMIM:226600 COL7A1 1294 HP:0000142 Abnormality of the vagina OMIM:226600 COL7A1 1294 HP:0008069 Neoplasm of the skin OMIM:226600 COL7A1 1294 HP:0200042 Skin ulcer OMIM:226600 COL7A1 1294 HP:0100825 Cheilitis OMIM:226600 COL7A1 1294 HP:0001510 Growth delay OMIM:226600 COL7A1 1294 HP:0001075 Atrophic scars OMIM:226600 COL7A1 1294 HP:0000413 Atresia of the external auditory canal OMIM:226600 COL7A1 1294 HP:0004349 Reduced bone mineral density OMIM:611878 TPM1 7168 HP:0001635 Congestive heart failure OMIM:611878 TPM1 7168 HP:0001644 Dilated cardiomyopathy OMIM:611878 TPM1 7168 HP:0004756 Ventricular tachycardia OMIM:611878 TPM1 7168 HP:0000006 Autosomal dominant inheritance OMIM:607636 LRP5 4041 HP:0000006 Autosomal dominant inheritance OMIM:607636 LRP5 4041 HP:0002684 Thickened calvaria OMIM:607636 LRP5 4041 HP:0000303 Mandibular prognathia OMIM:607636 LRP5 4041 HP:0000935 Thickened cortex of long bones OMIM:612563 RPS7 6201 HP:0005518 Erythrocyte macrocytosis OMIM:612563 RPS7 6201 HP:0001972 Macrocytic anemia OMIM:612563 RPS7 6201 HP:0000006 Autosomal dominant inheritance OMIM:613195 ADAMTS17 170691 HP:0001083 Ectopia lentis OMIM:613195 ADAMTS17 170691 HP:0000501 Glaucoma OMIM:613195 ADAMTS17 170691 HP:0000007 Autosomal recessive inheritance OMIM:613195 ADAMTS17 170691 HP:0004322 Short stature OMIM:615909 RPS29 6235 HP:0000006 Autosomal dominant inheritance OMIM:615909 RPS29 6235 HP:0001897 Normocytic anemia OMIM:615909 RPS29 6235 HP:0011463 Childhood onset OMIM:615909 RPS29 6235 HP:0030270 Elevated red cell adenosine deaminase activity OMIM:200610 COL2A1 1280 HP:0003026 Short long bone OMIM:200610 COL2A1 1280 HP:0000175 Cleft palate OMIM:200610 COL2A1 1280 HP:0000272 Malar flattening OMIM:200610 COL2A1 1280 HP:0001789 Hydrops fetalis OMIM:200610 COL2A1 1280 HP:0005622 Broad long bones OMIM:200610 COL2A1 1280 HP:0003196 Short nose OMIM:200610 COL2A1 1280 HP:0002007 Frontal bossing OMIM:200610 COL2A1 1280 HP:0001537 Umbilical hernia OMIM:200610 COL2A1 1280 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:200610 COL2A1 1280 HP:0000773 Short ribs OMIM:200610 COL2A1 1280 HP:0004322 Short stature OMIM:200610 COL2A1 1280 HP:0002652 Skeletal dysplasia OMIM:200610 COL2A1 1280 HP:0010306 Short thorax OMIM:200610 COL2A1 1280 HP:0003521 Disproportionate short-trunk short stature OMIM:200610 COL2A1 1280 HP:0000476 Cystic hygroma OMIM:200610 COL2A1 1280 HP:0001760 Abnormality of the foot OMIM:200610 COL2A1 1280 HP:0000343 Long philtrum OMIM:200610 COL2A1 1280 HP:0000969 Edema OMIM:200610 COL2A1 1280 HP:0008873 Disproportionate short-limb short stature OMIM:200610 COL2A1 1280 HP:0000256 Macrocephaly OMIM:200610 COL2A1 1280 HP:0004348 Abnormality of bone mineral density OMIM:200610 COL2A1 1280 HP:0002983 Micromelia OMIM:200610 COL2A1 1280 HP:0000888 Horizontal ribs OMIM:200610 COL2A1 1280 HP:0001248 Short tubular bones (hand) OMIM:200610 COL2A1 1280 HP:0000470 Short neck OMIM:200610 COL2A1 1280 HP:0003826 Stillbirth OMIM:200610 COL2A1 1280 HP:0002866 Hypoplastic iliac wing OMIM:200610 COL2A1 1280 HP:0000006 Autosomal dominant inheritance OMIM:200610 COL2A1 1280 HP:0001552 Barrel-shaped chest OMIM:200610 COL2A1 1280 HP:0001561 Polyhydramnios OMIM:200610 COL2A1 1280 HP:0000474 Thickened nuchal skin fold OMIM:200610 COL2A1 1280 HP:0000347 Micrognathia OMIM:200610 COL2A1 1280 HP:0004605 Absent vertebral body mineralization OMIM:200610 COL2A1 1280 HP:0002564 Malformation of the heart and great vessels OMIM:200610 COL2A1 1280 HP:0001162 Postaxial hand polydactyly OMIM:200610 COL2A1 1280 HP:0000463 Anteverted nares OMIM:200610 COL2A1 1280 HP:0000774 Narrow chest OMIM:200610 COL2A1 1280 HP:0003270 Abdominal distention OMIM:600430 HDAC4 9759 HP:0001156 Brachydactyly syndrome OMIM:600430 HDAC4 9759 HP:0000776 Congenital diaphragmatic hernia OMIM:600430 HDAC4 9759 HP:0002779 Tracheomalacia OMIM:600430 HDAC4 9759 HP:0000248 Brachycephaly OMIM:600430 HDAC4 9759 HP:0001831 Short toe OMIM:600430 HDAC4 9759 HP:0000407 Sensorineural hearing impairment OMIM:600430 HDAC4 9759 HP:0001250 Seizures OMIM:600430 HDAC4 9759 HP:0005280 Depressed nasal bridge OMIM:600430 HDAC4 9759 HP:0002007 Frontal bossing OMIM:600430 HDAC4 9759 HP:0000964 Eczema OMIM:600430 HDAC4 9759 HP:0003577 Congenital onset OMIM:600430 HDAC4 9759 HP:0000311 Round face OMIM:600430 HDAC4 9759 HP:0000718 Aggressive behavior OMIM:600430 HDAC4 9759 HP:0100716 Self-injurious behavior OMIM:600430 HDAC4 9759 HP:0002021 Pyloric stenosis OMIM:600430 HDAC4 9759 HP:0000582 Upslanted palpebral fissure OMIM:600430 HDAC4 9759 HP:0004209 Clinodactyly of the 5th finger OMIM:600430 HDAC4 9759 HP:0000463 Anteverted nares OMIM:600430 HDAC4 9759 HP:0004279 Short palm OMIM:600430 HDAC4 9759 HP:0000490 Deeply set eye OMIM:600430 HDAC4 9759 HP:0010761 Broad columella OMIM:600430 HDAC4 9759 HP:0002360 Sleep disturbance OMIM:600430 HDAC4 9759 HP:0001513 Obesity OMIM:600430 HDAC4 9759 HP:0002714 Downturned corners of mouth OMIM:600430 HDAC4 9759 HP:0000405 Conductive hearing impairment OMIM:600430 HDAC4 9759 HP:0001770 Toe syndactyly OMIM:600430 HDAC4 9759 HP:0000283 Broad face OMIM:600430 HDAC4 9759 HP:0001265 Hyporeflexia OMIM:600430 HDAC4 9759 HP:0001382 Joint hypermobility OMIM:600430 HDAC4 9759 HP:0001537 Umbilical hernia OMIM:600430 HDAC4 9759 HP:0006101 Finger syndactyly OMIM:600430 HDAC4 9759 HP:0010743 Short metatarsal OMIM:600430 HDAC4 9759 HP:0100543 Cognitive impairment OMIM:600430 HDAC4 9759 HP:0002667 Nephroblastoma (Wilms tumor) OMIM:600430 HDAC4 9759 HP:0002558 Supernumerary nipple OMIM:600430 HDAC4 9759 HP:0000252 Microcephaly OMIM:600430 HDAC4 9759 HP:0001773 Short foot OMIM:600430 HDAC4 9759 HP:0000733 Stereotypic behavior OMIM:600430 HDAC4 9759 HP:0011675 Arrhythmia OMIM:600430 HDAC4 9759 HP:0001163 Abnormality of the metacarpal bones OMIM:600430 HDAC4 9759 HP:0011800 Midface retrusion OMIM:600430 HDAC4 9759 HP:0007021 Pain insensitivity OMIM:600430 HDAC4 9759 HP:0001679 Abnormality of the aorta OMIM:600430 HDAC4 9759 HP:0000752 Hyperactivity OMIM:600430 HDAC4 9759 HP:0000430 Underdeveloped nasal alae OMIM:600430 HDAC4 9759 HP:0000003 Multicystic kidney dysplasia OMIM:600430 HDAC4 9759 HP:0002564 Malformation of the heart and great vessels OMIM:600430 HDAC4 9759 HP:0000954 Single transverse palmar crease OMIM:600430 HDAC4 9759 HP:0000470 Short neck OMIM:600430 HDAC4 9759 HP:0000233 Thin vermilion border OMIM:600430 HDAC4 9759 HP:0001428 Somatic mutation OMIM:600430 HDAC4 9759 HP:0004322 Short stature OMIM:600430 HDAC4 9759 HP:0000722 Obsessive-compulsive behavior OMIM:600430 HDAC4 9759 HP:0001249 Intellectual disability OMIM:600430 HDAC4 9759 HP:0001682 Subaortic stenosis OMIM:600430 HDAC4 9759 HP:0009803 Short phalanx of finger OMIM:600430 HDAC4 9759 HP:0000272 Malar flattening OMIM:600430 HDAC4 9759 HP:0002553 Highly arched eyebrow OMIM:600430 HDAC4 9759 HP:0000717 Autism OMIM:600430 HDAC4 9759 HP:0000174 Abnormality of the palate OMIM:600430 HDAC4 9759 HP:0000256 Macrocephaly OMIM:600430 HDAC4 9759 HP:0001252 Muscular hypotonia OMIM:600430 HDAC4 9759 HP:0011362 Abnormal hair quantity OMIM:600430 HDAC4 9759 HP:0007018 Attention deficit hyperactivity disorder OMIM:600430 HDAC4 9759 HP:0001601 Laryngomalacia OMIM:600430 HDAC4 9759 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:600430 HDAC4 9759 HP:0001263 Global developmental delay OMIM:600430 HDAC4 9759 HP:0010049 Short metacarpal OMIM:600430 HDAC4 9759 HP:0000455 Broad nasal tip OMIM:612286 SLC34A1 6569 HP:0000787 Nephrolithiasis OMIM:612286 SLC34A1 6569 HP:0002659 Increased susceptibility to fractures OMIM:612286 SLC34A1 6569 HP:0000938 Osteopenia OMIM:612286 SLC34A1 6569 HP:0002150 Hypercalciuria OMIM:612286 SLC34A1 6569 HP:0000006 Autosomal dominant inheritance OMIM:612286 SLC34A1 6569 HP:0002148 Hypophosphatemia OMIM:612286 SLC34A1 6569 HP:0000939 Osteoporosis OMIM:612286 SLC34A1 6569 HP:0000117 Renal phosphate wasting OMIM:612286 SLC34A1 6569 HP:0003109 Hyperphosphaturia OMIM:105250 OSMR 9180 HP:0011034 Amyloidosis OMIM:105250 OSMR 9180 HP:0001149 Lattice corneal dystrophy OMIM:105250 OSMR 9180 HP:0003581 Adult onset OMIM:105250 OSMR 9180 HP:0001291 Abnormality of the cranial nerves OMIM:105250 OSMR 9180 HP:0000006 Autosomal dominant inheritance OMIM:105250 OSMR 9180 HP:0000973 Cutis laxa OMIM:105250 OSMR 9180 HP:0000989 Pruritus ORPHANET:1885 FBN1 2200 HP:0001131 Corneal dystrophy ORPHANET:1885 FBN1 2200 HP:0001519 Disproportionate tall stature ORPHANET:1885 FBN1 2200 HP:0000540 Hypermetropia ORPHANET:1885 FBN1 2200 HP:0008063 Aplasia/Hypoplasia of the lens ORPHANET:1885 FBN1 2200 HP:0001083 Ectopia lentis ORPHANET:1885 FBN1 2200 HP:0000505 Visual impairment ORPHANET:1885 FBN1 2200 HP:0001376 Limitation of joint mobility ORPHANET:1885 FBN1 2200 HP:0000615 Abnormality of the pupil ORPHANET:1885 FBN1 2200 HP:0100719 Lens coloboma ORPHANET:1885 FBN1 2200 HP:0000483 Astigmatism ORPHANET:1885 FBN1 2200 HP:0000501 Glaucoma ORPHANET:1885 FBN1 2200 HP:0007720 Flat cornea ORPHANET:1885 FBN1 2200 HP:0000541 Retinal detachment ORPHANET:1885 ADAMTSL4 54507 HP:0001131 Corneal dystrophy ORPHANET:1885 ADAMTSL4 54507 HP:0001519 Disproportionate tall stature ORPHANET:1885 ADAMTSL4 54507 HP:0000540 Hypermetropia ORPHANET:1885 ADAMTSL4 54507 HP:0008063 Aplasia/Hypoplasia of the lens ORPHANET:1885 ADAMTSL4 54507 HP:0001083 Ectopia lentis ORPHANET:1885 ADAMTSL4 54507 HP:0000505 Visual impairment ORPHANET:1885 ADAMTSL4 54507 HP:0001376 Limitation of joint mobility ORPHANET:1885 ADAMTSL4 54507 HP:0000615 Abnormality of the pupil ORPHANET:1885 ADAMTSL4 54507 HP:0100719 Lens coloboma ORPHANET:1885 ADAMTSL4 54507 HP:0000483 Astigmatism ORPHANET:1885 ADAMTSL4 54507 HP:0000501 Glaucoma ORPHANET:1885 ADAMTSL4 54507 HP:0007720 Flat cornea ORPHANET:1885 ADAMTSL4 54507 HP:0000541 Retinal detachment OMIM:613428 C2ORF71 388939 HP:0001099 Fundus atrophy OMIM:613428 C2ORF71 388939 HP:0007737 Bony spicule pigmentary retinopathy OMIM:613428 C2ORF71 388939 HP:0007843 Attenuation of retinal blood vessels OMIM:613428 C2ORF71 388939 HP:0000007 Autosomal recessive inheritance OMIM:613428 C2ORF71 388939 HP:0000512 Abnormal electroretinogram OMIM:613428 C2ORF71 388939 HP:0000662 Night blindness OMIM:613428 C2ORF71 388939 HP:0000510 Retinitis pigmentosa OMIM:613428 C2ORF71 388939 HP:0000505 Visual impairment ORPHANET:71493 JAK2 3717 HP:0005268 Spontaneous abortion ORPHANET:71493 JAK2 3717 HP:0002637 Cerebral ischemia ORPHANET:71493 JAK2 3717 HP:0000989 Pruritus ORPHANET:71493 JAK2 3717 HP:0002092 Pulmonary hypertension ORPHANET:71493 JAK2 3717 HP:0001744 Splenomegaly ORPHANET:71493 JAK2 3717 HP:0002076 Migraine ORPHANET:71493 JAK2 3717 HP:0100749 Chest pain ORPHANET:71493 JAK2 3717 HP:0001928 Abnormality of coagulation ORPHANET:71493 JAK2 3717 HP:0002167 Neurological speech impairment ORPHANET:71493 JAK2 3717 HP:0003401 Paresthesia ORPHANET:71493 JAK2 3717 HP:0004418 Thrombophlebitis ORPHANET:71493 JAK2 3717 HP:0001824 Weight loss ORPHANET:71493 JAK2 3717 HP:0001250 Seizures ORPHANET:71493 JAK2 3717 HP:0002863 Myelodysplasia ORPHANET:71493 JAK2 3717 HP:0002488 Acute leukemia ORPHANET:71493 JAK2 3717 HP:0004420 Arterial thrombosis ORPHANET:71493 JAK2 3717 HP:0000975 Hyperhidrosis ORPHANET:71493 JAK2 3717 HP:0001123 Visual field defect ORPHANET:71493 JAK2 3717 HP:0002321 Vertigo ORPHANET:71493 JAK2 3717 HP:0001872 Abnormality of thrombocytes ORPHANET:71493 MPL 4352 HP:0005268 Spontaneous abortion ORPHANET:71493 MPL 4352 HP:0002637 Cerebral ischemia ORPHANET:71493 MPL 4352 HP:0000989 Pruritus ORPHANET:71493 MPL 4352 HP:0002092 Pulmonary hypertension ORPHANET:71493 MPL 4352 HP:0001744 Splenomegaly ORPHANET:71493 MPL 4352 HP:0002076 Migraine ORPHANET:71493 MPL 4352 HP:0100749 Chest pain ORPHANET:71493 MPL 4352 HP:0001928 Abnormality of coagulation ORPHANET:71493 MPL 4352 HP:0002167 Neurological speech impairment ORPHANET:71493 MPL 4352 HP:0003401 Paresthesia ORPHANET:71493 MPL 4352 HP:0004418 Thrombophlebitis ORPHANET:71493 MPL 4352 HP:0001824 Weight loss ORPHANET:71493 MPL 4352 HP:0001250 Seizures ORPHANET:71493 MPL 4352 HP:0002863 Myelodysplasia ORPHANET:71493 MPL 4352 HP:0002488 Acute leukemia ORPHANET:71493 MPL 4352 HP:0004420 Arterial thrombosis ORPHANET:71493 MPL 4352 HP:0000975 Hyperhidrosis ORPHANET:71493 MPL 4352 HP:0001123 Visual field defect ORPHANET:71493 MPL 4352 HP:0002321 Vertigo ORPHANET:71493 MPL 4352 HP:0001872 Abnormality of thrombocytes ORPHANET:71493 THPO 7066 HP:0005268 Spontaneous abortion ORPHANET:71493 THPO 7066 HP:0002637 Cerebral ischemia ORPHANET:71493 THPO 7066 HP:0000989 Pruritus ORPHANET:71493 THPO 7066 HP:0002092 Pulmonary hypertension ORPHANET:71493 THPO 7066 HP:0001744 Splenomegaly ORPHANET:71493 THPO 7066 HP:0002076 Migraine ORPHANET:71493 THPO 7066 HP:0100749 Chest pain ORPHANET:71493 THPO 7066 HP:0001928 Abnormality of coagulation ORPHANET:71493 THPO 7066 HP:0002167 Neurological speech impairment ORPHANET:71493 THPO 7066 HP:0003401 Paresthesia ORPHANET:71493 THPO 7066 HP:0004418 Thrombophlebitis ORPHANET:71493 THPO 7066 HP:0001824 Weight loss ORPHANET:71493 THPO 7066 HP:0001250 Seizures ORPHANET:71493 THPO 7066 HP:0002863 Myelodysplasia ORPHANET:71493 THPO 7066 HP:0002488 Acute leukemia ORPHANET:71493 THPO 7066 HP:0004420 Arterial thrombosis ORPHANET:71493 THPO 7066 HP:0000975 Hyperhidrosis ORPHANET:71493 THPO 7066 HP:0001123 Visual field defect ORPHANET:71493 THPO 7066 HP:0002321 Vertigo ORPHANET:71493 THPO 7066 HP:0001872 Abnormality of thrombocytes OMIM:615954 ARMC5 79798 HP:0000311 Round face OMIM:615954 ARMC5 79798 HP:0012743 Abdominal obesity OMIM:615954 ARMC5 79798 HP:0008231 Macronodular adrenal hyperplasia OMIM:615954 ARMC5 79798 HP:0003074 Hyperglycemia OMIM:615954 ARMC5 79798 HP:0000939 Osteoporosis OMIM:253550 SMN1 6606 HP:0002378 Hand tremor OMIM:253550 SMN1 6606 HP:0000007 Autosomal recessive inheritance OMIM:253550 SMN1 6606 HP:0003457 EMG abnormality OMIM:253550 SMN1 6606 HP:0002205 Recurrent respiratory infections OMIM:253550 SMN1 6606 HP:0002398 Degeneration of anterior horn cells OMIM:253550 SMN1 6606 HP:0007269 Spinal muscular atrophy OMIM:253550 SMN1 6606 HP:0001324 Muscle weakness OMIM:253550 SMN1 6606 HP:0001308 Tongue fasciculations OMIM:611521 TYK2 7297 HP:0000007 Autosomal recessive inheritance OMIM:611521 TYK2 7297 HP:0002205 Recurrent respiratory infections OMIM:611521 TYK2 7297 HP:0011274 Recurrent mycobacterial infections OMIM:611521 TYK2 7297 HP:0002721 Immunodeficiency OMIM:611521 TYK2 7297 HP:0003212 Increased IgE level OMIM:611521 TYK2 7297 HP:0002841 Recurrent fungal infections OMIM:611521 TYK2 7297 HP:0004429 Recurrent viral infections OMIM:605355 TNNT1 7138 HP:0003273 Hip contracture OMIM:605355 TNNT1 7138 HP:0003803 Type 1 muscle fiber predominance OMIM:605355 TNNT1 7138 HP:0000768 Pectus carinatum OMIM:605355 TNNT1 7138 HP:0003044 Shoulder flexion contracture OMIM:605355 TNNT1 7138 HP:0007126 Proximal amyotrophy OMIM:605355 TNNT1 7138 HP:0002063 Rigidity OMIM:605355 TNNT1 7138 HP:0003198 Myopathy OMIM:605355 TNNT1 7138 HP:0003593 Infantile onset OMIM:605355 TNNT1 7138 HP:0003798 Nemaline bodies OMIM:605355 TNNT1 7138 HP:0001547 Abnormality of the rib cage OMIM:605355 TNNT1 7138 HP:0003323 Progressive muscle weakness OMIM:605355 TNNT1 7138 HP:0001337 Tremor OMIM:605355 TNNT1 7138 HP:0002194 Delayed gross motor development OMIM:605355 TNNT1 7138 HP:0000007 Autosomal recessive inheritance OMIM:605355 TNNT1 7138 HP:0003184 Decreased hip abduction OMIM:605355 TNNT1 7138 HP:0002093 Respiratory insufficiency OMIM:269000 ESCO2 157570 HP:0000204 Cleft upper lip OMIM:269000 ESCO2 157570 HP:0030084 Clinodactyly OMIM:269000 ESCO2 157570 HP:0009466 Radial deviation of finger OMIM:269000 ESCO2 157570 HP:0001250 Seizures OMIM:269000 ESCO2 157570 HP:0000358 Posteriorly rotated ears OMIM:269000 ESCO2 157570 HP:0009778 Short thumb OMIM:269000 ESCO2 157570 HP:0003616 Premature separation of centromeric heterochromatin OMIM:269000 ESCO2 157570 HP:0003273 Hip contracture OMIM:269000 ESCO2 157570 HP:0000007 Autosomal recessive inheritance OMIM:269000 ESCO2 157570 HP:0000592 Blue sclerae OMIM:269000 ESCO2 157570 HP:0001263 Global developmental delay OMIM:269000 ESCO2 157570 HP:0003974 Absent radius OMIM:269000 ESCO2 157570 HP:0002286 Fair hair OMIM:269000 ESCO2 157570 HP:0001511 Intrauterine growth retardation OMIM:269000 ESCO2 157570 HP:0000252 Microcephaly OMIM:269000 ESCO2 157570 HP:0001650 Aortic valve stenosis OMIM:269000 ESCO2 157570 HP:0009829 Phocomelia OMIM:269000 ESCO2 157570 HP:0006380 Knee flexion contracture OMIM:269000 ESCO2 157570 HP:0000430 Underdeveloped nasal alae OMIM:269000 ESCO2 157570 HP:0008070 Sparse hair OMIM:269000 ESCO2 157570 HP:0007452 Midface capillary hemangioma OMIM:269000 ESCO2 157570 HP:0003982 Absent ulna OMIM:269000 ESCO2 157570 HP:0002645 Wormian bones OMIM:269000 ESCO2 157570 HP:0000347 Micrognathia OMIM:269000 ESCO2 157570 HP:0004322 Short stature OMIM:614284 COL9A2 1298 HP:0000007 Autosomal recessive inheritance OMIM:614284 COL9A2 1298 HP:0011003 Severe Myopia OMIM:614284 COL9A2 1298 HP:0000655 Vitreoretinal degeneration OMIM:614284 COL9A2 1298 HP:0000541 Retinal detachment OMIM:605021 TBC1D24 57465 HP:0003593 Infantile onset OMIM:605021 TBC1D24 57465 HP:0003828 Variable expressivity OMIM:605021 TBC1D24 57465 HP:0002123 Generalized myoclonic seizures OMIM:605021 TBC1D24 57465 HP:0002373 Febrile seizures OMIM:605021 TBC1D24 57465 HP:0002069 Generalized tonic-clonic seizures OMIM:605021 TBC1D24 57465 HP:0007359 Focal seizures OMIM:605021 TBC1D24 57465 HP:0000007 Autosomal recessive inheritance OMIM:613550 TMEM67 91147 HP:0001395 Hepatic fibrosis OMIM:613550 TMEM67 91147 HP:0001263 Global developmental delay OMIM:613550 TMEM67 91147 HP:0000639 Nystagmus OMIM:613550 TMEM67 91147 HP:0000007 Autosomal recessive inheritance OMIM:613550 TMEM67 91147 HP:0000108 Renal corticomedullary cysts OMIM:613550 TMEM67 91147 HP:0005583 Tubular basement membrane disintegration OMIM:613550 TMEM67 91147 HP:0001903 Anemia OMIM:613550 TMEM67 91147 HP:0009916 Anisocoria OMIM:613550 TMEM67 91147 HP:0003774 Stage 5 chronic kidney disease OMIM:613550 TMEM67 91147 HP:0000092 Tubular atrophy OMIM:613550 TMEM67 91147 HP:0000546 Retinal degeneration OMIM:613550 TMEM67 91147 HP:0000090 Nephronophthisis OMIM:613550 TMEM67 91147 HP:0001959 Polydipsia OMIM:613550 TMEM67 91147 HP:0001510 Growth delay OMIM:613550 TMEM67 91147 HP:0000486 Strabismus OMIM:613550 TMEM67 91147 HP:0000103 Polyuria OMIM:252600 GNPTAB 79158 HP:0001363 Craniosynostosis OMIM:252600 GNPTAB 79158 HP:0002650 Scoliosis OMIM:252600 GNPTAB 79158 HP:0000280 Coarse facial features OMIM:252600 GNPTAB 79158 HP:0001072 Thickened skin OMIM:252600 GNPTAB 79158 HP:0001328 Specific learning disability OMIM:252600 GNPTAB 79158 HP:0006162 Soft tissue swelling of interphalangeal joints OMIM:252600 GNPTAB 79158 HP:0004322 Short stature OMIM:252600 GNPTAB 79158 HP:0001498 Carpal bone hypoplasia OMIM:252600 GNPTAB 79158 HP:0000007 Autosomal recessive inheritance OMIM:252600 GNPTAB 79158 HP:0000488 Retinopathy OMIM:252600 GNPTAB 79158 HP:0000943 Dysostosis multiplex OMIM:252600 GNPTAB 79158 HP:0000885 Broad ribs OMIM:252600 GNPTAB 79158 HP:0004236 Irregular carpal bones OMIM:252600 GNPTAB 79158 HP:0003182 Shallow acetabular fossae OMIM:252600 GNPTAB 79158 HP:0001171 Split hand OMIM:252600 GNPTAB 79158 HP:0000484 Hyperopic astigmatism OMIM:252600 GNPTAB 79158 HP:0001249 Intellectual disability OMIM:252600 GNPTAB 79158 HP:0000303 Mandibular prognathia OMIM:252600 GNPTAB 79158 HP:0003538 Increased serum iduronate sulfatase activity OMIM:252600 GNPTAB 79158 HP:0003264 Deficiency of N-acetylglucosamine-1-phosphotransferase OMIM:252600 GNPTAB 79158 HP:0003333 Increased serum beta-hexosaminidase OMIM:252600 GNPTAB 79158 HP:0002680 J-shaped sella turcica OMIM:252600 GNPTAB 79158 HP:0007759 Opacification of the corneal stroma OMIM:252600 GNPTAB 79158 HP:0003026 Short long bone OMIM:252600 GNPTAB 79158 HP:0001659 Aortic regurgitation OMIM:252600 GNPTAB 79158 HP:0000773 Short ribs OMIM:616267 PNKP 11284 HP:0002445 Tetraplegia OMIM:616267 PNKP 11284 HP:0001251 Ataxia OMIM:616267 PNKP 11284 HP:0001272 Cerebellar atrophy OMIM:616267 PNKP 11284 HP:0001332 Dystonia OMIM:616267 PNKP 11284 HP:0000657 Oculomotor apraxia OMIM:616267 PNKP 11284 HP:0009830 Peripheral neuropathy OMIM:616267 PNKP 11284 HP:0001284 Areflexia OMIM:616267 PNKP 11284 HP:0100543 Cognitive impairment ORPHANET:1416 ANKH 56172 HP:0001250 Seizures ORPHANET:1416 ANKH 56172 HP:0001373 Joint dislocation ORPHANET:1416 ANKH 56172 HP:0000934 Chondrocalcinosis ORPHANET:1416 ANKH 56172 HP:0001386 Joint swelling ORPHANET:1416 ANKH 56172 HP:0001376 Limitation of joint mobility ORPHANET:1416 ANKH 56172 HP:0002758 Osteoarthritis ORPHANET:1416 ANKH 56172 HP:0005108 Abnormality of the intervertebral disk ORPHANET:1416 ANKH 56172 HP:0100593 Calcification of cartilage ORPHANET:1416 ANKH 56172 HP:0100261 Abnormal tendon morphology ORPHANET:1416 ANKH 56172 HP:0002829 Arthralgia OMIM:215600 KRT18 3875 HP:0003270 Abdominal distention OMIM:215600 KRT18 3875 HP:0000952 Jaundice OMIM:215600 KRT18 3875 HP:0002040 Esophageal varix OMIM:215600 KRT18 3875 HP:0002092 Pulmonary hypertension OMIM:215600 KRT18 3875 HP:0001945 Fever OMIM:215600 KRT18 3875 HP:0001413 Micronodular cirrhosis OMIM:215600 KRT18 3875 HP:0001254 Lethargy OMIM:215600 KRT8 3856 HP:0003270 Abdominal distention OMIM:215600 KRT8 3856 HP:0000952 Jaundice OMIM:215600 KRT8 3856 HP:0002040 Esophageal varix OMIM:215600 KRT8 3856 HP:0002092 Pulmonary hypertension OMIM:215600 KRT8 3856 HP:0001945 Fever OMIM:215600 KRT8 3856 HP:0001413 Micronodular cirrhosis OMIM:215600 KRT8 3856 HP:0001254 Lethargy OMIM:609441 BMPR1B 658 HP:0000815 Hypergonadotropic hypogonadism OMIM:609441 BMPR1B 658 HP:0000007 Autosomal recessive inheritance OMIM:609441 BMPR1B 658 HP:0002990 Fibular aplasia OMIM:609441 BMPR1B 658 HP:0100864 Short femoral neck OMIM:609441 BMPR1B 658 HP:0000786 Primary amenorrhea OMIM:609441 BMPR1B 658 HP:0008873 Disproportionate short-limb short stature OMIM:609441 BMPR1B 658 HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones OMIM:609441 BMPR1B 658 HP:0009803 Short phalanx of finger OMIM:609441 BMPR1B 658 HP:0008368 Tarsal synostosis OMIM:609441 BMPR1B 658 HP:0001762 Talipes equinovarus OMIM:609441 BMPR1B 658 HP:0010242 Aplasia of the proximal phalanges of the hand OMIM:609441 BMPR1B 658 HP:0000013 Hypoplasia of the uterus OMIM:609441 BMPR1B 658 HP:0005028 Widened proximal tibial metaphyses OMIM:609441 BMPR1B 658 HP:0009702 Carpal synostosis OMIM:609441 BMPR1B 658 HP:0001831 Short toe OMIM:609441 BMPR1B 658 HP:0003022 Hypoplasia of the ulna OMIM:609441 BMPR1B 658 HP:0009466 Radial deviation of finger OMIM:609441 BMPR1B 658 HP:0001769 Broad foot OMIM:609441 BMPR1B 658 HP:0009381 Short finger OMIM:252150 MOCS1 4337 HP:0000007 Autosomal recessive inheritance OMIM:252150 MOCS1 4337 HP:0002079 Hypoplasia of the corpus callosum OMIM:252150 MOCS1 4337 HP:0003739 Myoclonic spasms OMIM:252150 MOCS1 4337 HP:0001249 Intellectual disability OMIM:252150 MOCS1 4337 HP:0000804 Xanthine nephrolithiasis OMIM:252150 MOCS1 4337 HP:0000256 Macrocephaly OMIM:252150 MOCS1 4337 HP:0011814 Increased urinary hypoxanthine OMIM:252150 MOCS1 4337 HP:0001083 Ectopia lentis OMIM:252150 MOCS1 4337 HP:0002179 Opisthotonus OMIM:252150 MOCS1 4337 HP:0003570 Molybdenum cofactor deficiency OMIM:252150 MOCS1 4337 HP:0002510 Spastic tetraplegia OMIM:252150 MOCS1 4337 HP:0010934 Xanthinuria OMIM:252150 MOCS1 4337 HP:0002007 Frontal bossing OMIM:252150 MOCS1 4337 HP:0000316 Hypertelorism OMIM:252150 MOCS1 4337 HP:0003537 Hypouricemia OMIM:252150 MOCS1 4337 HP:0003643 Sulfite oxidase deficiency OMIM:252150 MOCS1 4337 HP:0000639 Nystagmus OMIM:252150 MOCS1 4337 HP:0001285 Spastic tetraparesis OMIM:252150 MOCS1 4337 HP:0012471 Thick vermilion border OMIM:252150 MOCS1 4337 HP:0011942 Increased urinary sulfite OMIM:252150 MOCS1 4337 HP:0011943 Increased urinary thiosulfate OMIM:252150 MOCS1 4337 HP:0003359 Decreased urinary sulfate OMIM:252150 MOCS1 4337 HP:0000343 Long philtrum OMIM:252150 MOCS1 4337 HP:0002932 Aldehyde oxidase deficiency OMIM:252150 MOCS1 4337 HP:0002119 Ventriculomegaly OMIM:252150 MOCS1 4337 HP:0003166 Increased urinary taurine OMIM:252150 MOCS1 4337 HP:0008872 Feeding difficulties in infancy OMIM:252150 MOCS1 4337 HP:0000252 Microcephaly OMIM:252150 MOCS1 4337 HP:0002059 Cerebral atrophy OMIM:252150 MOCS1 4337 HP:0003196 Short nose OMIM:252150 MOCS1 4337 HP:0011096 Peripheral demyelination OMIM:252150 MOCS1 4337 HP:0000276 Long face OMIM:252150 MOCS1 4337 HP:0003606 Absent urinary urothione OMIM:252150 MOCS1 4337 HP:0003676 Progressive disorder OMIM:252150 MOCS1 4337 HP:0001250 Seizures OMIM:252150 MOCS1 4337 HP:0002171 Gliosis OMIM:252150 MOCS1 4337 HP:0011935 Decreased urinary urate OMIM:252150 MOCS1 4337 HP:0003534 Reduced xanthine dehydrogenase activity OMIM:252150 MOCS1 4337 HP:0003447 Axonal loss OMIM:252150 MOCS1 4337 HP:0001510 Growth delay OMIM:252150 MOCS1 4337 HP:0000293 Full cheeks OMIM:613695 KCNE1 3753 HP:0001663 Ventricular fibrillation OMIM:613695 KCNE1 3753 HP:0001645 Sudden cardiac death OMIM:613695 KCNE1 3753 HP:0001657 Prolonged QT interval OMIM:613695 KCNE1 3753 HP:0001664 Torsade de pointes OMIM:613695 KCNE1 3753 HP:0001279 Syncope OMIM:613695 KCNE1 3753 HP:0000006 Autosomal dominant inheritance OMIM:605850 DMGDH 29958 HP:0000007 Autosomal recessive inheritance OMIM:605850 DMGDH 29958 HP:0003236 Elevated serum creatine phosphokinase OMIM:605850 DMGDH 29958 HP:0003750 Increased muscle fatiguability OMIM:145000 CDC73 79577 HP:0000006 Autosomal dominant inheritance OMIM:145000 CDC73 79577 HP:0008200 Primary hyperparathyroidism OMIM:145000 CDC73 79577 HP:0003072 Hypercalcemia OMIM:615863 DGAT1 8694 HP:0002243 Protein-losing enteropathy OMIM:615863 DGAT1 8694 HP:0003073 Hypoalbuminemia OMIM:615863 DGAT1 8694 HP:0003077 Hyperlipidemia OMIM:615863 DGAT1 8694 HP:0002013 Vomiting OMIM:615863 DGAT1 8694 HP:0002014 Diarrhea OMIM:616209 CHCHD10 400916 HP:0010628 Facial palsy OMIM:616209 CHCHD10 400916 HP:0004322 Short stature OMIM:616209 CHCHD10 400916 HP:0003546 Exercise intolerance OMIM:616209 CHCHD10 400916 HP:0003722 Neck flexor weakness OMIM:616209 CHCHD10 400916 HP:0002151 Increased serum lactate OMIM:616209 CHCHD10 400916 HP:0003236 Elevated serum creatine phosphokinase OMIM:229070 FSHB 2488 HP:0000789 Infertility OMIM:229070 FSHB 2488 HP:0008734 Decreased testicular size OMIM:229070 FSHB 2488 HP:0003199 Decreased muscle mass OMIM:229070 FSHB 2488 HP:0000007 Autosomal recessive inheritance OMIM:229070 FSHB 2488 HP:0000786 Primary amenorrhea OMIM:229070 FSHB 2488 HP:0001939 Abnormality of metabolism/homeostasis OMIM:229070 FSHB 2488 HP:0002750 Delayed skeletal maturation OMIM:616330 SNAP25 6616 HP:0001558 Decreased fetal movement OMIM:616330 SNAP25 6616 HP:0000508 Ptosis OMIM:616330 SNAP25 6616 HP:0001324 Muscle weakness OMIM:616330 SNAP25 6616 HP:0003388 Easy fatigability OMIM:616330 SNAP25 6616 HP:0002355 Difficulty walking OMIM:616330 SNAP25 6616 HP:0001284 Areflexia OMIM:616330 SNAP25 6616 HP:0001371 Flexion contracture OMIM:616330 SNAP25 6616 HP:0002093 Respiratory insufficiency OMIM:616330 SNAP25 6616 HP:0001251 Ataxia OMIM:616330 SNAP25 6616 HP:0001260 Dysarthria OMIM:616330 SNAP25 6616 HP:0002465 Poor speech OMIM:616330 SNAP25 6616 HP:0001263 Global developmental delay OMIM:615696 POGLUT1 56983 HP:0000006 Autosomal dominant inheritance OMIM:310200 DMD 1756 HP:0001419 X-linked recessive inheritance OMIM:310200 DMD 1756 HP:0003391 Gowers sign OMIM:310200 DMD 1756 HP:0003707 Calf muscle pseudohypertrophy OMIM:310200 DMD 1756 HP:0011675 Arrhythmia OMIM:310200 DMD 1756 HP:0001371 Flexion contracture OMIM:310200 DMD 1756 HP:0002791 Hypoventilation OMIM:310200 DMD 1756 HP:0002878 Respiratory failure OMIM:310200 DMD 1756 HP:0001252 Muscular hypotonia OMIM:310200 DMD 1756 HP:0003560 Muscular dystrophy OMIM:310200 DMD 1756 HP:0001256 Intellectual disability, mild OMIM:310200 DMD 1756 HP:0003236 Elevated serum creatine phosphokinase OMIM:310200 DMD 1756 HP:0001265 Hyporeflexia OMIM:310200 DMD 1756 HP:0011463 Childhood onset OMIM:310200 DMD 1756 HP:0001644 Dilated cardiomyopathy OMIM:310200 DMD 1756 HP:0002650 Scoliosis OMIM:310200 DMD 1756 HP:0003307 Hyperlordosis OMIM:310200 DMD 1756 HP:0001635 Congestive heart failure OMIM:310200 DMD 1756 HP:0002515 Waddling gait OMIM:237310 NAGS 162417 HP:0001254 Lethargy OMIM:237310 NAGS 162417 HP:0002013 Vomiting OMIM:237310 NAGS 162417 HP:0100543 Cognitive impairment OMIM:237310 NAGS 162417 HP:0001259 Coma OMIM:237310 NAGS 162417 HP:0001987 Hyperammonemia OMIM:237310 NAGS 162417 HP:0001508 Failure to thrive OMIM:237310 NAGS 162417 HP:0001250 Seizures OMIM:237310 NAGS 162417 HP:0000718 Aggressive behavior OMIM:237310 NAGS 162417 HP:0000007 Autosomal recessive inheritance OMIM:237310 NAGS 162417 HP:0002098 Respiratory distress OMIM:237310 NAGS 162417 HP:0001289 Confusion ORPHANET:107 SIX5 147912 HP:0000083 Renal insufficiency ORPHANET:107 SIX5 147912 HP:0008678 Renal hypoplasia/aplasia ORPHANET:107 SIX5 147912 HP:0010628 Facial palsy ORPHANET:107 SIX5 147912 HP:0008572 External ear malformation ORPHANET:107 SIX5 147912 HP:0000003 Multicystic kidney dysplasia ORPHANET:107 SIX5 147912 HP:0000076 Vesicoureteral reflux ORPHANET:107 SIX5 147912 HP:0000384 Preauricular skin tag ORPHANET:107 SIX5 147912 HP:0000632 Lacrimation abnormality ORPHANET:107 SIX5 147912 HP:0000175 Cleft palate ORPHANET:107 SIX5 147912 HP:0000347 Micrognathia ORPHANET:107 SIX5 147912 HP:0000365 Hearing impairment ORPHANET:107 SIX5 147912 HP:0000370 Abnormality of the middle ear ORPHANET:107 SIX5 147912 HP:0000413 Atresia of the external auditory canal ORPHANET:107 SIX5 147912 HP:0000359 Abnormality of the inner ear ORPHANET:107 SIX1 6495 HP:0000083 Renal insufficiency ORPHANET:107 SIX1 6495 HP:0008678 Renal hypoplasia/aplasia ORPHANET:107 SIX1 6495 HP:0010628 Facial palsy ORPHANET:107 SIX1 6495 HP:0008572 External ear malformation ORPHANET:107 SIX1 6495 HP:0000003 Multicystic kidney dysplasia ORPHANET:107 SIX1 6495 HP:0000076 Vesicoureteral reflux ORPHANET:107 SIX1 6495 HP:0000384 Preauricular skin tag ORPHANET:107 SIX1 6495 HP:0000632 Lacrimation abnormality ORPHANET:107 SIX1 6495 HP:0000175 Cleft palate ORPHANET:107 SIX1 6495 HP:0000347 Micrognathia ORPHANET:107 SIX1 6495 HP:0000365 Hearing impairment ORPHANET:107 SIX1 6495 HP:0000370 Abnormality of the middle ear ORPHANET:107 SIX1 6495 HP:0000413 Atresia of the external auditory canal ORPHANET:107 SIX1 6495 HP:0000359 Abnormality of the inner ear ORPHANET:107 EYA1 2138 HP:0000083 Renal insufficiency ORPHANET:107 EYA1 2138 HP:0008678 Renal hypoplasia/aplasia ORPHANET:107 EYA1 2138 HP:0010628 Facial palsy ORPHANET:107 EYA1 2138 HP:0008572 External ear malformation ORPHANET:107 EYA1 2138 HP:0000003 Multicystic kidney dysplasia ORPHANET:107 EYA1 2138 HP:0000076 Vesicoureteral reflux ORPHANET:107 EYA1 2138 HP:0000384 Preauricular skin tag ORPHANET:107 EYA1 2138 HP:0000632 Lacrimation abnormality ORPHANET:107 EYA1 2138 HP:0000175 Cleft palate ORPHANET:107 EYA1 2138 HP:0000347 Micrognathia ORPHANET:107 EYA1 2138 HP:0000365 Hearing impairment ORPHANET:107 EYA1 2138 HP:0000370 Abnormality of the middle ear ORPHANET:107 EYA1 2138 HP:0000413 Atresia of the external auditory canal ORPHANET:107 EYA1 2138 HP:0000359 Abnormality of the inner ear OMIM:615491 UCHL1 7345 HP:0000007 Autosomal recessive inheritance OMIM:615491 UCHL1 7345 HP:0002486 Myotonia OMIM:615491 UCHL1 7345 HP:0001310 Dysmetria OMIM:615491 UCHL1 7345 HP:0002411 Myokymia OMIM:615491 UCHL1 7345 HP:0001347 Hyperreflexia OMIM:615491 UCHL1 7345 HP:0000648 Optic atrophy OMIM:615491 UCHL1 7345 HP:0001272 Cerebellar atrophy OMIM:615491 UCHL1 7345 HP:0003487 Babinski sign OMIM:615491 UCHL1 7345 HP:0000639 Nystagmus OMIM:615491 UCHL1 7345 HP:0002180 Neurodegeneration OMIM:615491 UCHL1 7345 HP:0003676 Progressive disorder OMIM:615491 UCHL1 7345 HP:0000572 Visual loss OMIM:615491 UCHL1 7345 HP:0002059 Cerebral atrophy OMIM:615491 UCHL1 7345 HP:0002599 Head titubation OMIM:261600 PAH 5053 HP:0100543 Cognitive impairment OMIM:261600 PAH 5053 HP:0001249 Intellectual disability OMIM:261600 PAH 5053 HP:0000007 Autosomal recessive inheritance OMIM:261600 PAH 5053 HP:0004920 Phenylpyruvic acidemia OMIM:261600 PAH 5053 HP:0100324 Scleroderma OMIM:261600 PAH 5053 HP:0000742 Self-mutilation OMIM:261600 PAH 5053 HP:0000635 Blue irides OMIM:261600 PAH 5053 HP:0000739 Anxiety OMIM:261600 PAH 5053 HP:0002564 Malformation of the heart and great vessels OMIM:261600 PAH 5053 HP:0000709 Psychosis OMIM:261600 PAH 5053 HP:0007018 Attention deficit hyperactivity disorder OMIM:261600 PAH 5053 HP:0000737 Irritability OMIM:261600 PAH 5053 HP:0001347 Hyperreflexia OMIM:261600 PAH 5053 HP:0007513 Generalized hypopigmentation OMIM:261600 PAH 5053 HP:0000252 Microcephaly OMIM:261600 PAH 5053 HP:0000958 Dry skin OMIM:261600 PAH 5053 HP:0005982 Reduced phenylalanine hydroxylase activity OMIM:261600 PAH 5053 HP:0000722 Obsessive-compulsive behavior OMIM:261600 PAH 5053 HP:0000518 Cataract OMIM:261600 PAH 5053 HP:0000718 Aggressive behavior OMIM:261600 PAH 5053 HP:0000964 Eczema OMIM:261600 PAH 5053 HP:0002514 Cerebral calcification OMIM:261600 PAH 5053 HP:0003355 Aminoaciduria OMIM:261600 PAH 5053 HP:0002286 Fair hair OMIM:261600 PAH 5053 HP:0100610 Maternal hyperphenylalaninemia OMIM:261600 PAH 5053 HP:0001250 Seizures OMIM:261600 PAH 5053 HP:0004923 Hyperphenylalaninemia ORPHANET:51 ADAR 103 HP:0004374 Hemiplegia/hemiparesis ORPHANET:51 ADAR 103 HP:0000625 Cleft eyelid ORPHANET:51 ADAR 103 HP:0001276 Hypertonia ORPHANET:51 ADAR 103 HP:0001250 Seizures ORPHANET:51 ADAR 103 HP:0001357 Plagiocephaly ORPHANET:51 ADAR 103 HP:0000508 Ptosis ORPHANET:51 ADAR 103 HP:0100543 Cognitive impairment ORPHANET:51 ADAR 103 HP:0002132 Porencephaly ORPHANET:51 ADAR 103 HP:0001360 Holoprosencephaly ORPHANET:51 ADAR 103 HP:0000252 Microcephaly ORPHANET:51 IFIH1 64135 HP:0004374 Hemiplegia/hemiparesis ORPHANET:51 IFIH1 64135 HP:0000625 Cleft eyelid ORPHANET:51 IFIH1 64135 HP:0001276 Hypertonia ORPHANET:51 IFIH1 64135 HP:0001250 Seizures ORPHANET:51 IFIH1 64135 HP:0001357 Plagiocephaly ORPHANET:51 IFIH1 64135 HP:0000508 Ptosis ORPHANET:51 IFIH1 64135 HP:0100543 Cognitive impairment ORPHANET:51 IFIH1 64135 HP:0002132 Porencephaly ORPHANET:51 IFIH1 64135 HP:0001360 Holoprosencephaly ORPHANET:51 IFIH1 64135 HP:0000252 Microcephaly ORPHANET:51 RNASEH2A 10535 HP:0004374 Hemiplegia/hemiparesis ORPHANET:51 RNASEH2A 10535 HP:0000625 Cleft eyelid ORPHANET:51 RNASEH2A 10535 HP:0001276 Hypertonia ORPHANET:51 RNASEH2A 10535 HP:0001250 Seizures ORPHANET:51 RNASEH2A 10535 HP:0001357 Plagiocephaly ORPHANET:51 RNASEH2A 10535 HP:0000508 Ptosis ORPHANET:51 RNASEH2A 10535 HP:0100543 Cognitive impairment ORPHANET:51 RNASEH2A 10535 HP:0002132 Porencephaly ORPHANET:51 RNASEH2A 10535 HP:0001360 Holoprosencephaly ORPHANET:51 RNASEH2A 10535 HP:0000252 Microcephaly ORPHANET:51 RNASEH2C 84153 HP:0004374 Hemiplegia/hemiparesis ORPHANET:51 RNASEH2C 84153 HP:0000625 Cleft eyelid ORPHANET:51 RNASEH2C 84153 HP:0001276 Hypertonia ORPHANET:51 RNASEH2C 84153 HP:0001250 Seizures ORPHANET:51 RNASEH2C 84153 HP:0001357 Plagiocephaly ORPHANET:51 RNASEH2C 84153 HP:0000508 Ptosis ORPHANET:51 RNASEH2C 84153 HP:0100543 Cognitive impairment ORPHANET:51 RNASEH2C 84153 HP:0002132 Porencephaly ORPHANET:51 RNASEH2C 84153 HP:0001360 Holoprosencephaly ORPHANET:51 RNASEH2C 84153 HP:0000252 Microcephaly ORPHANET:51 TREX1 11277 HP:0004374 Hemiplegia/hemiparesis ORPHANET:51 TREX1 11277 HP:0000625 Cleft eyelid ORPHANET:51 TREX1 11277 HP:0001276 Hypertonia ORPHANET:51 TREX1 11277 HP:0001250 Seizures ORPHANET:51 TREX1 11277 HP:0001357 Plagiocephaly ORPHANET:51 TREX1 11277 HP:0000508 Ptosis ORPHANET:51 TREX1 11277 HP:0100543 Cognitive impairment ORPHANET:51 TREX1 11277 HP:0002132 Porencephaly ORPHANET:51 TREX1 11277 HP:0001360 Holoprosencephaly ORPHANET:51 TREX1 11277 HP:0000252 Microcephaly ORPHANET:51 RNASEH2B 79621 HP:0004374 Hemiplegia/hemiparesis ORPHANET:51 RNASEH2B 79621 HP:0000625 Cleft eyelid ORPHANET:51 RNASEH2B 79621 HP:0001276 Hypertonia ORPHANET:51 RNASEH2B 79621 HP:0001250 Seizures ORPHANET:51 RNASEH2B 79621 HP:0001357 Plagiocephaly ORPHANET:51 RNASEH2B 79621 HP:0000508 Ptosis ORPHANET:51 RNASEH2B 79621 HP:0100543 Cognitive impairment ORPHANET:51 RNASEH2B 79621 HP:0002132 Porencephaly ORPHANET:51 RNASEH2B 79621 HP:0001360 Holoprosencephaly ORPHANET:51 RNASEH2B 79621 HP:0000252 Microcephaly ORPHANET:51 SAMHD1 25939 HP:0004374 Hemiplegia/hemiparesis ORPHANET:51 SAMHD1 25939 HP:0000625 Cleft eyelid ORPHANET:51 SAMHD1 25939 HP:0001276 Hypertonia ORPHANET:51 SAMHD1 25939 HP:0001250 Seizures ORPHANET:51 SAMHD1 25939 HP:0001357 Plagiocephaly ORPHANET:51 SAMHD1 25939 HP:0000508 Ptosis ORPHANET:51 SAMHD1 25939 HP:0100543 Cognitive impairment ORPHANET:51 SAMHD1 25939 HP:0002132 Porencephaly ORPHANET:51 SAMHD1 25939 HP:0001360 Holoprosencephaly ORPHANET:51 SAMHD1 25939 HP:0000252 Microcephaly OMIM:600501 EDNRB 1910 HP:0001520 Large for gestational age OMIM:600501 EDNRB 1910 HP:0000365 Hearing impairment OMIM:600501 EDNRB 1910 HP:0006958 Abnormal auditory evoked potentials OMIM:600501 EDNRB 1910 HP:0001022 Albinism OMIM:600501 EDNRB 1910 HP:0000007 Autosomal recessive inheritance OMIM:600501 EDNRB 1910 HP:0002251 Aganglionic megacolon OMIM:600501 EDNRB 1910 HP:0007894 Hypopigmentation of the fundus ORPHANET:758 ABCC6 368 HP:0000505 Visual impairment ORPHANET:758 ABCC6 368 HP:0000474 Thickened nuchal skin fold ORPHANET:758 ABCC6 368 HP:0001382 Joint hypermobility ORPHANET:758 ABCC6 368 HP:0000934 Chondrocalcinosis ORPHANET:758 ABCC6 368 HP:0002514 Cerebral calcification ORPHANET:758 ABCC6 368 HP:0000821 Hypothyroidism ORPHANET:758 ABCC6 368 HP:0001065 Striae distensae ORPHANET:758 ABCC6 368 HP:0000822 Hypertension ORPHANET:758 ABCC6 368 HP:0000174 Abnormality of the palate ORPHANET:758 ABCC6 368 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:758 ABCC6 368 HP:0002170 Intracranial hemorrhage ORPHANET:758 ABCC6 368 HP:0000488 Retinopathy ORPHANET:758 ABCC6 368 HP:0000532 Chorioretinal abnormality ORPHANET:758 ABCC6 368 HP:0002617 Aneurysm ORPHANET:758 ABCC6 368 HP:0000988 Skin rash ORPHANET:758 ABCC6 368 HP:0004306 Abnormality of the endocardium ORPHANET:758 ABCC6 368 HP:0001061 Acne ORPHANET:758 ABCC6 368 HP:0004374 Hemiplegia/hemiparesis ORPHANET:758 ABCC6 368 HP:0001872 Abnormality of thrombocytes ORPHANET:758 ABCC6 368 HP:0001677 Coronary artery disease ORPHANET:758 ABCC6 368 HP:0000121 Nephrocalcinosis ORPHANET:758 ABCC6 368 HP:0000765 Abnormality of the thorax ORPHANET:758 ABCC6 368 HP:0000978 Bruising susceptibility ORPHANET:758 ABCC6 368 HP:0000989 Pruritus ORPHANET:758 ABCC6 368 HP:0000592 Blue sclerae ORPHANET:758 ABCC6 368 HP:0001645 Sudden cardiac death ORPHANET:758 ABCC6 368 HP:0000545 Myopia ORPHANET:758 ABCC6 368 HP:0002239 Gastrointestinal hemorrhage ORPHANET:758 ABCC6 368 HP:0002650 Scoliosis ORPHANET:758 ABCC6 368 HP:0001928 Abnormality of coagulation ORPHANET:758 ABCC6 368 HP:0100585 Teleangiectasia of the skin ORPHANET:758 ABCC6 368 HP:0001012 Multiple lipomas ORPHANET:758 ABCC6 368 HP:0000974 Hyperextensible skin ORPHANET:758 ABCC6 368 HP:0001633 Abnormality of the mitral valve OMIM:611895 ANG 283 HP:0002460 Distal muscle weakness OMIM:611895 ANG 283 HP:0003693 Distal amyotrophy OMIM:611895 ANG 283 HP:0007354 Amyotrophic lateral sclerosis OMIM:611895 ANG 283 HP:0000006 Autosomal dominant inheritance OMIM:611895 ANG 283 HP:0001257 Spasticity OMIM:608033 RANBP2 5903 HP:0002181 Cerebral edema OMIM:608033 RANBP2 5903 HP:0000006 Autosomal dominant inheritance OMIM:608033 RANBP2 5903 HP:0002090 Pneumonia OMIM:608033 RANBP2 5903 HP:0002445 Tetraplegia OMIM:608033 RANBP2 5903 HP:0003593 Infantile onset OMIM:608033 RANBP2 5903 HP:0003829 Incomplete penetrance OMIM:608033 RANBP2 5903 HP:0002171 Gliosis OMIM:608033 RANBP2 5903 HP:0001259 Coma OMIM:608033 RANBP2 5903 HP:0002510 Spastic tetraplegia OMIM:608033 RANBP2 5903 HP:0001276 Hypertonia OMIM:608033 RANBP2 5903 HP:0002922 Increased CSF protein OMIM:608033 RANBP2 5903 HP:0002715 Abnormality of the immune system OMIM:608033 RANBP2 5903 HP:0001250 Seizures OMIM:608033 RANBP2 5903 HP:0001298 Encephalopathy OMIM:615963 TNXB 7148 HP:0001382 Joint hypermobility OMIM:615963 TNXB 7148 HP:0000010 Recurrent urinary tract infections OMIM:615963 TNXB 7148 HP:0000081 Duplicated collecting system OMIM:615963 TNXB 7148 HP:0000076 Vesicoureteral reflux OMIM:185500 ELN 2006 HP:0004381 Supravalvular aortic stenosis OMIM:185500 ELN 2006 HP:0000006 Autosomal dominant inheritance OMIM:185500 ELN 2006 HP:0004928 Peripheral arterial stenosis OMIM:185500 ELN 2006 HP:0001642 Pulmonic stenosis OMIM:185500 ELN 2006 HP:0004415 Pulmonary artery stenosis OMIM:185500 ELN 2006 HP:0011675 Arrhythmia OMIM:615878 TJP2 9414 HP:0001406 Intrahepatic cholestasis OMIM:615878 TJP2 9414 HP:0001409 Portal hypertension OMIM:615878 TJP2 9414 HP:0001399 Hepatic failure ORPHANET:2318 ZNF423 23090 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2318 ZNF423 23090 HP:0000639 Nystagmus ORPHANET:2318 ZNF423 23090 HP:0001252 Muscular hypotonia ORPHANET:2318 ZNF423 23090 HP:0002564 Malformation of the heart and great vessels ORPHANET:2318 ZNF423 23090 HP:0002251 Aganglionic megacolon ORPHANET:2318 ZNF423 23090 HP:0000112 Nephropathy ORPHANET:2318 ZNF423 23090 HP:0000276 Long face ORPHANET:2318 ZNF423 23090 HP:0001161 Hand polydactyly ORPHANET:2318 ZNF423 23090 HP:0002553 Highly arched eyebrow ORPHANET:2318 ZNF423 23090 HP:0000426 Prominent nasal bridge ORPHANET:2318 ZNF423 23090 HP:0001829 Foot polydactyly ORPHANET:2318 ZNF423 23090 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2318 ZNF423 23090 HP:0001250 Seizures ORPHANET:2318 ZNF423 23090 HP:0002084 Encephalocele ORPHANET:2318 ZNF423 23090 HP:0002104 Apnea ORPHANET:2318 ZNF423 23090 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:2318 ZNF423 23090 HP:0002269 Abnormality of neuronal migration ORPHANET:2318 ZNF423 23090 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:2318 ZNF423 23090 HP:0000508 Ptosis ORPHANET:2318 ZNF423 23090 HP:0000238 Hydrocephalus ORPHANET:2318 ZNF423 23090 HP:0000083 Renal insufficiency ORPHANET:2318 ZNF423 23090 HP:0000486 Strabismus ORPHANET:2318 ZNF423 23090 HP:0002650 Scoliosis ORPHANET:2318 ZNF423 23090 HP:0000567 Chorioretinal coloboma ORPHANET:2318 ZNF423 23090 HP:0000612 Iris coloboma ORPHANET:2318 ZNF423 23090 HP:0002311 Incoordination ORPHANET:2318 ZNF423 23090 HP:0000341 Narrow forehead ORPHANET:2318 ZNF423 23090 HP:0000505 Visual impairment ORPHANET:2318 ZNF423 23090 HP:0000463 Anteverted nares ORPHANET:2318 ZNF423 23090 HP:0100543 Cognitive impairment ORPHANET:2318 TMEM216 51259 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2318 TMEM216 51259 HP:0000639 Nystagmus ORPHANET:2318 TMEM216 51259 HP:0001252 Muscular hypotonia ORPHANET:2318 TMEM216 51259 HP:0002564 Malformation of the heart and great vessels ORPHANET:2318 TMEM216 51259 HP:0002251 Aganglionic megacolon ORPHANET:2318 TMEM216 51259 HP:0000112 Nephropathy ORPHANET:2318 TMEM216 51259 HP:0000276 Long face ORPHANET:2318 TMEM216 51259 HP:0001161 Hand polydactyly ORPHANET:2318 TMEM216 51259 HP:0002553 Highly arched eyebrow ORPHANET:2318 TMEM216 51259 HP:0000426 Prominent nasal bridge ORPHANET:2318 TMEM216 51259 HP:0001829 Foot polydactyly ORPHANET:2318 TMEM216 51259 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2318 TMEM216 51259 HP:0001250 Seizures ORPHANET:2318 TMEM216 51259 HP:0002084 Encephalocele ORPHANET:2318 TMEM216 51259 HP:0002104 Apnea ORPHANET:2318 TMEM216 51259 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:2318 TMEM216 51259 HP:0002269 Abnormality of neuronal migration ORPHANET:2318 TMEM216 51259 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:2318 TMEM216 51259 HP:0000508 Ptosis ORPHANET:2318 TMEM216 51259 HP:0000238 Hydrocephalus ORPHANET:2318 TMEM216 51259 HP:0000083 Renal insufficiency ORPHANET:2318 TMEM216 51259 HP:0000486 Strabismus ORPHANET:2318 TMEM216 51259 HP:0002650 Scoliosis ORPHANET:2318 TMEM216 51259 HP:0000567 Chorioretinal coloboma ORPHANET:2318 TMEM216 51259 HP:0000612 Iris coloboma ORPHANET:2318 TMEM216 51259 HP:0002311 Incoordination ORPHANET:2318 TMEM216 51259 HP:0000341 Narrow forehead ORPHANET:2318 TMEM216 51259 HP:0000505 Visual impairment ORPHANET:2318 TMEM216 51259 HP:0000463 Anteverted nares ORPHANET:2318 TMEM216 51259 HP:0100543 Cognitive impairment ORPHANET:2318 TMEM237 65062 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2318 TMEM237 65062 HP:0000639 Nystagmus ORPHANET:2318 TMEM237 65062 HP:0001252 Muscular hypotonia ORPHANET:2318 TMEM237 65062 HP:0002564 Malformation of the heart and great vessels ORPHANET:2318 TMEM237 65062 HP:0002251 Aganglionic megacolon ORPHANET:2318 TMEM237 65062 HP:0000112 Nephropathy ORPHANET:2318 TMEM237 65062 HP:0000276 Long face ORPHANET:2318 TMEM237 65062 HP:0001161 Hand polydactyly ORPHANET:2318 TMEM237 65062 HP:0002553 Highly arched eyebrow ORPHANET:2318 TMEM237 65062 HP:0000426 Prominent nasal bridge ORPHANET:2318 TMEM237 65062 HP:0001829 Foot polydactyly ORPHANET:2318 TMEM237 65062 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2318 TMEM237 65062 HP:0001250 Seizures ORPHANET:2318 TMEM237 65062 HP:0002084 Encephalocele ORPHANET:2318 TMEM237 65062 HP:0002104 Apnea ORPHANET:2318 TMEM237 65062 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:2318 TMEM237 65062 HP:0002269 Abnormality of neuronal migration ORPHANET:2318 TMEM237 65062 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:2318 TMEM237 65062 HP:0000508 Ptosis ORPHANET:2318 TMEM237 65062 HP:0000238 Hydrocephalus ORPHANET:2318 TMEM237 65062 HP:0000083 Renal insufficiency ORPHANET:2318 TMEM237 65062 HP:0000486 Strabismus ORPHANET:2318 TMEM237 65062 HP:0002650 Scoliosis ORPHANET:2318 TMEM237 65062 HP:0000567 Chorioretinal coloboma ORPHANET:2318 TMEM237 65062 HP:0000612 Iris coloboma ORPHANET:2318 TMEM237 65062 HP:0002311 Incoordination ORPHANET:2318 TMEM237 65062 HP:0000341 Narrow forehead ORPHANET:2318 TMEM237 65062 HP:0000505 Visual impairment ORPHANET:2318 TMEM237 65062 HP:0000463 Anteverted nares ORPHANET:2318 TMEM237 65062 HP:0100543 Cognitive impairment ORPHANET:2318 CC2D2A 57545 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2318 CC2D2A 57545 HP:0000639 Nystagmus ORPHANET:2318 CC2D2A 57545 HP:0001252 Muscular hypotonia ORPHANET:2318 CC2D2A 57545 HP:0002564 Malformation of the heart and great vessels ORPHANET:2318 CC2D2A 57545 HP:0002251 Aganglionic megacolon ORPHANET:2318 CC2D2A 57545 HP:0000112 Nephropathy ORPHANET:2318 CC2D2A 57545 HP:0000276 Long face ORPHANET:2318 CC2D2A 57545 HP:0001161 Hand polydactyly ORPHANET:2318 CC2D2A 57545 HP:0002553 Highly arched eyebrow ORPHANET:2318 CC2D2A 57545 HP:0000426 Prominent nasal bridge ORPHANET:2318 CC2D2A 57545 HP:0001829 Foot polydactyly ORPHANET:2318 CC2D2A 57545 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2318 CC2D2A 57545 HP:0001250 Seizures ORPHANET:2318 CC2D2A 57545 HP:0002084 Encephalocele ORPHANET:2318 CC2D2A 57545 HP:0002104 Apnea ORPHANET:2318 CC2D2A 57545 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:2318 CC2D2A 57545 HP:0002269 Abnormality of neuronal migration ORPHANET:2318 CC2D2A 57545 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:2318 CC2D2A 57545 HP:0000508 Ptosis ORPHANET:2318 CC2D2A 57545 HP:0000238 Hydrocephalus ORPHANET:2318 CC2D2A 57545 HP:0000083 Renal insufficiency ORPHANET:2318 CC2D2A 57545 HP:0000486 Strabismus ORPHANET:2318 CC2D2A 57545 HP:0002650 Scoliosis ORPHANET:2318 CC2D2A 57545 HP:0000567 Chorioretinal coloboma ORPHANET:2318 CC2D2A 57545 HP:0000612 Iris coloboma ORPHANET:2318 CC2D2A 57545 HP:0002311 Incoordination ORPHANET:2318 CC2D2A 57545 HP:0000341 Narrow forehead ORPHANET:2318 CC2D2A 57545 HP:0000505 Visual impairment ORPHANET:2318 CC2D2A 57545 HP:0000463 Anteverted nares ORPHANET:2318 CC2D2A 57545 HP:0100543 Cognitive impairment ORPHANET:2318 CEP290 80184 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2318 CEP290 80184 HP:0000639 Nystagmus ORPHANET:2318 CEP290 80184 HP:0001252 Muscular hypotonia ORPHANET:2318 CEP290 80184 HP:0002564 Malformation of the heart and great vessels ORPHANET:2318 CEP290 80184 HP:0002251 Aganglionic megacolon ORPHANET:2318 CEP290 80184 HP:0000112 Nephropathy ORPHANET:2318 CEP290 80184 HP:0000276 Long face ORPHANET:2318 CEP290 80184 HP:0001161 Hand polydactyly ORPHANET:2318 CEP290 80184 HP:0002553 Highly arched eyebrow ORPHANET:2318 CEP290 80184 HP:0000426 Prominent nasal bridge ORPHANET:2318 CEP290 80184 HP:0001829 Foot polydactyly ORPHANET:2318 CEP290 80184 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2318 CEP290 80184 HP:0001250 Seizures ORPHANET:2318 CEP290 80184 HP:0002084 Encephalocele ORPHANET:2318 CEP290 80184 HP:0002104 Apnea ORPHANET:2318 CEP290 80184 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:2318 CEP290 80184 HP:0002269 Abnormality of neuronal migration ORPHANET:2318 CEP290 80184 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:2318 CEP290 80184 HP:0000508 Ptosis ORPHANET:2318 CEP290 80184 HP:0000238 Hydrocephalus ORPHANET:2318 CEP290 80184 HP:0000083 Renal insufficiency ORPHANET:2318 CEP290 80184 HP:0000486 Strabismus ORPHANET:2318 CEP290 80184 HP:0002650 Scoliosis ORPHANET:2318 CEP290 80184 HP:0000567 Chorioretinal coloboma ORPHANET:2318 CEP290 80184 HP:0000612 Iris coloboma ORPHANET:2318 CEP290 80184 HP:0002311 Incoordination ORPHANET:2318 CEP290 80184 HP:0000341 Narrow forehead ORPHANET:2318 CEP290 80184 HP:0000505 Visual impairment ORPHANET:2318 CEP290 80184 HP:0000463 Anteverted nares ORPHANET:2318 CEP290 80184 HP:0100543 Cognitive impairment ORPHANET:2318 TMEM231 79583 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2318 TMEM231 79583 HP:0000639 Nystagmus ORPHANET:2318 TMEM231 79583 HP:0001252 Muscular hypotonia ORPHANET:2318 TMEM231 79583 HP:0002564 Malformation of the heart and great vessels ORPHANET:2318 TMEM231 79583 HP:0002251 Aganglionic megacolon ORPHANET:2318 TMEM231 79583 HP:0000112 Nephropathy ORPHANET:2318 TMEM231 79583 HP:0000276 Long face ORPHANET:2318 TMEM231 79583 HP:0001161 Hand polydactyly ORPHANET:2318 TMEM231 79583 HP:0002553 Highly arched eyebrow ORPHANET:2318 TMEM231 79583 HP:0000426 Prominent nasal bridge ORPHANET:2318 TMEM231 79583 HP:0001829 Foot polydactyly ORPHANET:2318 TMEM231 79583 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2318 TMEM231 79583 HP:0001250 Seizures ORPHANET:2318 TMEM231 79583 HP:0002084 Encephalocele ORPHANET:2318 TMEM231 79583 HP:0002104 Apnea ORPHANET:2318 TMEM231 79583 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:2318 TMEM231 79583 HP:0002269 Abnormality of neuronal migration ORPHANET:2318 TMEM231 79583 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:2318 TMEM231 79583 HP:0000508 Ptosis ORPHANET:2318 TMEM231 79583 HP:0000238 Hydrocephalus ORPHANET:2318 TMEM231 79583 HP:0000083 Renal insufficiency ORPHANET:2318 TMEM231 79583 HP:0000486 Strabismus ORPHANET:2318 TMEM231 79583 HP:0002650 Scoliosis ORPHANET:2318 TMEM231 79583 HP:0000567 Chorioretinal coloboma ORPHANET:2318 TMEM231 79583 HP:0000612 Iris coloboma ORPHANET:2318 TMEM231 79583 HP:0002311 Incoordination ORPHANET:2318 TMEM231 79583 HP:0000341 Narrow forehead ORPHANET:2318 TMEM231 79583 HP:0000505 Visual impairment ORPHANET:2318 TMEM231 79583 HP:0000463 Anteverted nares ORPHANET:2318 TMEM231 79583 HP:0100543 Cognitive impairment ORPHANET:2318 TMEM138 51524 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2318 TMEM138 51524 HP:0000639 Nystagmus ORPHANET:2318 TMEM138 51524 HP:0001252 Muscular hypotonia ORPHANET:2318 TMEM138 51524 HP:0002564 Malformation of the heart and great vessels ORPHANET:2318 TMEM138 51524 HP:0002251 Aganglionic megacolon ORPHANET:2318 TMEM138 51524 HP:0000112 Nephropathy ORPHANET:2318 TMEM138 51524 HP:0000276 Long face ORPHANET:2318 TMEM138 51524 HP:0001161 Hand polydactyly ORPHANET:2318 TMEM138 51524 HP:0002553 Highly arched eyebrow ORPHANET:2318 TMEM138 51524 HP:0000426 Prominent nasal bridge ORPHANET:2318 TMEM138 51524 HP:0001829 Foot polydactyly ORPHANET:2318 TMEM138 51524 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2318 TMEM138 51524 HP:0001250 Seizures ORPHANET:2318 TMEM138 51524 HP:0002084 Encephalocele ORPHANET:2318 TMEM138 51524 HP:0002104 Apnea ORPHANET:2318 TMEM138 51524 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:2318 TMEM138 51524 HP:0002269 Abnormality of neuronal migration ORPHANET:2318 TMEM138 51524 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:2318 TMEM138 51524 HP:0000508 Ptosis ORPHANET:2318 TMEM138 51524 HP:0000238 Hydrocephalus ORPHANET:2318 TMEM138 51524 HP:0000083 Renal insufficiency ORPHANET:2318 TMEM138 51524 HP:0000486 Strabismus ORPHANET:2318 TMEM138 51524 HP:0002650 Scoliosis ORPHANET:2318 TMEM138 51524 HP:0000567 Chorioretinal coloboma ORPHANET:2318 TMEM138 51524 HP:0000612 Iris coloboma ORPHANET:2318 TMEM138 51524 HP:0002311 Incoordination ORPHANET:2318 TMEM138 51524 HP:0000341 Narrow forehead ORPHANET:2318 TMEM138 51524 HP:0000505 Visual impairment ORPHANET:2318 TMEM138 51524 HP:0000463 Anteverted nares ORPHANET:2318 TMEM138 51524 HP:0100543 Cognitive impairment OMIM:615972 TMEM98 26022 HP:0012426 Optic disc drusen OMIM:615972 TMEM98 26022 HP:0000505 Visual impairment OMIM:615972 TMEM98 26022 HP:0000568 Microphthalmos OMIM:614069 ZBTB24 9841 HP:0002090 Pneumonia OMIM:614069 ZBTB24 9841 HP:0000007 Autosomal recessive inheritance OMIM:614069 ZBTB24 9841 HP:0001270 Motor delay OMIM:614069 ZBTB24 9841 HP:0004313 Hypogammaglobulinemia OMIM:614069 ZBTB24 9841 HP:0001510 Growth delay OMIM:614069 ZBTB24 9841 HP:0000311 Round face OMIM:614069 ZBTB24 9841 HP:0000316 Hypertelorism OMIM:614069 ZBTB24 9841 HP:0000286 Epicanthus OMIM:614069 ZBTB24 9841 HP:0003577 Congenital onset OMIM:614069 ZBTB24 9841 HP:0000218 High palate OMIM:614069 ZBTB24 9841 HP:0005280 Depressed nasal bridge OMIM:614069 ZBTB24 9841 HP:0000369 Low-set ears OMIM:614069 ZBTB24 9841 HP:0004469 Chronic bronchitis OMIM:614069 ZBTB24 9841 HP:0000278 Retrognathia OMIM:614069 ZBTB24 9841 HP:0000331 Short chin OMIM:614069 ZBTB24 9841 HP:0003196 Short nose OMIM:614069 ZBTB24 9841 HP:0002721 Immunodeficiency OMIM:614069 ZBTB24 9841 HP:0000463 Anteverted nares OMIM:614069 ZBTB24 9841 HP:0001249 Intellectual disability OMIM:616361 DNAJC13 23317 HP:0100315 Lewy bodies OMIM:616361 DNAJC13 23317 HP:0001300 Parkinsonism OMIM:616361 DNAJC13 23317 HP:0002067 Bradykinesia OMIM:616361 DNAJC13 23317 HP:0002063 Rigidity OMIM:616361 DNAJC13 23317 HP:0002172 Postural instability OMIM:616361 DNAJC13 23317 HP:0001337 Tremor OMIM:300123 SOX3 6658 HP:0004322 Short stature OMIM:300123 SOX3 6658 HP:0001263 Global developmental delay OMIM:300123 SOX3 6658 HP:0001417 X-linked inheritance OMIM:300123 SOX3 6658 HP:0000871 Panhypopituitarism OMIM:300123 SOX3 6658 HP:0001256 Intellectual disability, mild OMIM:300123 SOX3 6658 HP:0000824 Growth hormone deficiency OMIM:300123 SOX3 6658 HP:0000821 Hypothyroidism OMIM:614225 RAB3GAP2 25782 HP:0000294 Low anterior hairline OMIM:614225 RAB3GAP2 25782 HP:0000568 Microphthalmos OMIM:614225 RAB3GAP2 25782 HP:0005484 Postnatal microcephaly OMIM:614225 RAB3GAP2 25782 HP:0002079 Hypoplasia of the corpus callosum OMIM:614225 RAB3GAP2 25782 HP:0000252 Microcephaly OMIM:614225 RAB3GAP2 25782 HP:0000248 Brachycephaly OMIM:614225 RAB3GAP2 25782 HP:0000426 Prominent nasal bridge OMIM:614225 RAB3GAP2 25782 HP:0000648 Optic atrophy OMIM:614225 RAB3GAP2 25782 HP:0008936 Muscular hypotonia of the trunk OMIM:614225 RAB3GAP2 25782 HP:0000482 Microcornea OMIM:614225 RAB3GAP2 25782 HP:0002126 Polymicrogyria OMIM:614225 RAB3GAP2 25782 HP:0002283 Global brain atrophy OMIM:614225 RAB3GAP2 25782 HP:0000519 Congenital cataract OMIM:614225 RAB3GAP2 25782 HP:0000007 Autosomal recessive inheritance OMIM:614225 RAB3GAP2 25782 HP:0011344 Severe global developmental delay OMIM:614225 RAB3GAP2 25782 HP:0007965 Absence of visual evoked potentials OMIM:614225 RAB3GAP2 25782 HP:0000046 Scrotal hypoplasia OMIM:614225 RAB3GAP2 25782 HP:0010722 Asymmetry of the ears OMIM:614225 RAB3GAP2 25782 HP:0008897 Postnatal growth retardation OMIM:614225 RAB3GAP2 25782 HP:0000028 Cryptorchidism OMIM:614225 RAB3GAP2 25782 HP:0000518 Cataract OMIM:614225 RAB3GAP2 25782 HP:0000059 Hypoplastic labia majora OMIM:614225 RAB3GAP2 25782 HP:0003196 Short nose OMIM:614225 RAB3GAP2 25782 HP:0010864 Intellectual disability, severe OMIM:614225 RAB3GAP2 25782 HP:0001845 Overlapping toe OMIM:614225 RAB3GAP2 25782 HP:0000400 Macrotia OMIM:614225 RAB3GAP2 25782 HP:0000054 Micropenis OMIM:614225 RAB3GAP2 25782 HP:0001371 Flexion contracture ORPHANET:379 NCF2 4688 HP:0000246 Sinusitis ORPHANET:379 NCF2 4688 HP:0000964 Eczema ORPHANET:379 NCF2 4688 HP:0001874 Abnormality of neutrophils ORPHANET:379 NCF2 4688 HP:0100523 Liver abscess ORPHANET:379 NCF2 4688 HP:0000992 Cutaneous photosensitivity ORPHANET:379 NCF2 4688 HP:0002021 Pyloric stenosis ORPHANET:379 NCF2 4688 HP:0001744 Splenomegaly ORPHANET:379 NCF2 4688 HP:0006510 Chronic obstructive pulmonary disease ORPHANET:379 NCF2 4688 HP:0001034 Hypermelanotic macule ORPHANET:379 NCF2 4688 HP:0100533 Inflammatory abnormality of the eye ORPHANET:379 NCF2 4688 HP:0000230 Gingivitis ORPHANET:379 NCF2 4688 HP:0002240 Hepatomegaly ORPHANET:379 NCF2 4688 HP:0100721 Mediastinal lymphadenopathy ORPHANET:379 NCF2 4688 HP:0200042 Skin ulcer ORPHANET:379 NCF2 4688 HP:0002205 Recurrent respiratory infections ORPHANET:379 NCF2 4688 HP:0002575 Tracheoesophageal fistula ORPHANET:379 NCF2 4688 HP:0001287 Meningitis ORPHANET:379 NCF2 4688 HP:0100806 Sepsis ORPHANET:379 NCF2 4688 HP:0000388 Otitis media ORPHANET:379 NCF2 4688 HP:0004370 Abnormality of temperature regulation ORPHANET:379 NCF2 4688 HP:0001025 Urticaria ORPHANET:379 NCF2 4688 HP:0002024 Malabsorption ORPHANET:379 NCF4 4689 HP:0000246 Sinusitis ORPHANET:379 NCF4 4689 HP:0000964 Eczema ORPHANET:379 NCF4 4689 HP:0001874 Abnormality of neutrophils ORPHANET:379 NCF4 4689 HP:0100523 Liver abscess ORPHANET:379 NCF4 4689 HP:0000992 Cutaneous photosensitivity ORPHANET:379 NCF4 4689 HP:0002021 Pyloric stenosis ORPHANET:379 NCF4 4689 HP:0001744 Splenomegaly ORPHANET:379 NCF4 4689 HP:0006510 Chronic obstructive pulmonary disease ORPHANET:379 NCF4 4689 HP:0001034 Hypermelanotic macule ORPHANET:379 NCF4 4689 HP:0100533 Inflammatory abnormality of the eye ORPHANET:379 NCF4 4689 HP:0000230 Gingivitis ORPHANET:379 NCF4 4689 HP:0002240 Hepatomegaly ORPHANET:379 NCF4 4689 HP:0100721 Mediastinal lymphadenopathy ORPHANET:379 NCF4 4689 HP:0200042 Skin ulcer ORPHANET:379 NCF4 4689 HP:0002205 Recurrent respiratory infections ORPHANET:379 NCF4 4689 HP:0002575 Tracheoesophageal fistula ORPHANET:379 NCF4 4689 HP:0001287 Meningitis ORPHANET:379 NCF4 4689 HP:0100806 Sepsis ORPHANET:379 NCF4 4689 HP:0000388 Otitis media ORPHANET:379 NCF4 4689 HP:0004370 Abnormality of temperature regulation ORPHANET:379 NCF4 4689 HP:0001025 Urticaria ORPHANET:379 NCF4 4689 HP:0002024 Malabsorption ORPHANET:379 NCF1 653361 HP:0000246 Sinusitis ORPHANET:379 NCF1 653361 HP:0000964 Eczema ORPHANET:379 NCF1 653361 HP:0001874 Abnormality of neutrophils ORPHANET:379 NCF1 653361 HP:0100523 Liver abscess ORPHANET:379 NCF1 653361 HP:0000992 Cutaneous photosensitivity ORPHANET:379 NCF1 653361 HP:0002021 Pyloric stenosis ORPHANET:379 NCF1 653361 HP:0001744 Splenomegaly ORPHANET:379 NCF1 653361 HP:0006510 Chronic obstructive pulmonary disease ORPHANET:379 NCF1 653361 HP:0001034 Hypermelanotic macule ORPHANET:379 NCF1 653361 HP:0100533 Inflammatory abnormality of the eye ORPHANET:379 NCF1 653361 HP:0000230 Gingivitis ORPHANET:379 NCF1 653361 HP:0002240 Hepatomegaly ORPHANET:379 NCF1 653361 HP:0100721 Mediastinal lymphadenopathy ORPHANET:379 NCF1 653361 HP:0200042 Skin ulcer ORPHANET:379 NCF1 653361 HP:0002205 Recurrent respiratory infections ORPHANET:379 NCF1 653361 HP:0002575 Tracheoesophageal fistula ORPHANET:379 NCF1 653361 HP:0001287 Meningitis ORPHANET:379 NCF1 653361 HP:0100806 Sepsis ORPHANET:379 NCF1 653361 HP:0000388 Otitis media ORPHANET:379 NCF1 653361 HP:0004370 Abnormality of temperature regulation ORPHANET:379 NCF1 653361 HP:0001025 Urticaria ORPHANET:379 NCF1 653361 HP:0002024 Malabsorption ORPHANET:379 CYBA 1535 HP:0000246 Sinusitis ORPHANET:379 CYBA 1535 HP:0000964 Eczema ORPHANET:379 CYBA 1535 HP:0001874 Abnormality of neutrophils ORPHANET:379 CYBA 1535 HP:0100523 Liver abscess ORPHANET:379 CYBA 1535 HP:0000992 Cutaneous photosensitivity ORPHANET:379 CYBA 1535 HP:0002021 Pyloric stenosis ORPHANET:379 CYBA 1535 HP:0001744 Splenomegaly ORPHANET:379 CYBA 1535 HP:0006510 Chronic obstructive pulmonary disease ORPHANET:379 CYBA 1535 HP:0001034 Hypermelanotic macule ORPHANET:379 CYBA 1535 HP:0100533 Inflammatory abnormality of the eye ORPHANET:379 CYBA 1535 HP:0000230 Gingivitis ORPHANET:379 CYBA 1535 HP:0002240 Hepatomegaly ORPHANET:379 CYBA 1535 HP:0100721 Mediastinal lymphadenopathy ORPHANET:379 CYBA 1535 HP:0200042 Skin ulcer ORPHANET:379 CYBA 1535 HP:0002205 Recurrent respiratory infections ORPHANET:379 CYBA 1535 HP:0002575 Tracheoesophageal fistula ORPHANET:379 CYBA 1535 HP:0001287 Meningitis ORPHANET:379 CYBA 1535 HP:0100806 Sepsis ORPHANET:379 CYBA 1535 HP:0000388 Otitis media ORPHANET:379 CYBA 1535 HP:0004370 Abnormality of temperature regulation ORPHANET:379 CYBA 1535 HP:0001025 Urticaria ORPHANET:379 CYBA 1535 HP:0002024 Malabsorption ORPHANET:379 CYBB 1536 HP:0000246 Sinusitis ORPHANET:379 CYBB 1536 HP:0000964 Eczema ORPHANET:379 CYBB 1536 HP:0001874 Abnormality of neutrophils ORPHANET:379 CYBB 1536 HP:0100523 Liver abscess ORPHANET:379 CYBB 1536 HP:0000992 Cutaneous photosensitivity ORPHANET:379 CYBB 1536 HP:0002021 Pyloric stenosis ORPHANET:379 CYBB 1536 HP:0001744 Splenomegaly ORPHANET:379 CYBB 1536 HP:0006510 Chronic obstructive pulmonary disease ORPHANET:379 CYBB 1536 HP:0001034 Hypermelanotic macule ORPHANET:379 CYBB 1536 HP:0100533 Inflammatory abnormality of the eye ORPHANET:379 CYBB 1536 HP:0000230 Gingivitis ORPHANET:379 CYBB 1536 HP:0002240 Hepatomegaly ORPHANET:379 CYBB 1536 HP:0100721 Mediastinal lymphadenopathy ORPHANET:379 CYBB 1536 HP:0200042 Skin ulcer ORPHANET:379 CYBB 1536 HP:0002205 Recurrent respiratory infections ORPHANET:379 CYBB 1536 HP:0002575 Tracheoesophageal fistula ORPHANET:379 CYBB 1536 HP:0001287 Meningitis ORPHANET:379 CYBB 1536 HP:0100806 Sepsis ORPHANET:379 CYBB 1536 HP:0000388 Otitis media ORPHANET:379 CYBB 1536 HP:0004370 Abnormality of temperature regulation ORPHANET:379 CYBB 1536 HP:0001025 Urticaria ORPHANET:379 CYBB 1536 HP:0002024 Malabsorption OMIM:614083 FANCL 55120 HP:0000007 Autosomal recessive inheritance OMIM:614083 FANCL 55120 HP:0001903 Anemia OMIM:614083 FANCL 55120 HP:0003220 Abnormality of chromosome stability OMIM:614083 FANCL 55120 HP:0000957 Cafe-au-lait spot OMIM:614083 FANCL 55120 HP:0001263 Global developmental delay OMIM:615500 C21ORF59 56683 HP:0000789 Infertility OMIM:615500 C21ORF59 56683 HP:0002110 Bronchiectasis OMIM:615500 C21ORF59 56683 HP:0000403 Recurrent otitis media OMIM:615500 C21ORF59 56683 HP:0200073 Respiratory insufficiency due to defective ciliary clearance OMIM:615500 C21ORF59 56683 HP:0012384 Rhinitis OMIM:615500 C21ORF59 56683 HP:0012265 Ciliary dyskinesia OMIM:615500 C21ORF59 56683 HP:0004469 Chronic bronchitis OMIM:615500 C21ORF59 56683 HP:0012207 Reduced sperm motility OMIM:615500 C21ORF59 56683 HP:0000246 Sinusitis OMIM:615500 C21ORF59 56683 HP:0001696 Situs inversus totalis OMIM:615500 C21ORF59 56683 HP:0000007 Autosomal recessive inheritance OMIM:184250 COL2A1 1280 HP:0002970 Genu varum OMIM:184250 COL2A1 1280 HP:0008788 Delayed pubic bone ossification OMIM:184250 COL2A1 1280 HP:0003272 Abnormality of the hip bone OMIM:184250 COL2A1 1280 HP:0005930 Abnormality of epiphysis morphology OMIM:184250 COL2A1 1280 HP:0003320 C1-C2 subluxation OMIM:184250 COL2A1 1280 HP:0002857 Genu valgum OMIM:184250 COL2A1 1280 HP:0001156 Brachydactyly syndrome OMIM:184250 COL2A1 1280 HP:0003311 Hypoplasia of the odontoid process OMIM:184250 COL2A1 1280 HP:0000175 Cleft palate OMIM:184250 COL2A1 1280 HP:0003307 Hyperlordosis OMIM:184250 COL2A1 1280 HP:0002651 Spondyloepimetaphyseal dysplasia OMIM:184250 COL2A1 1280 HP:0000316 Hypertelorism OMIM:184250 COL2A1 1280 HP:0003510 Severe short stature OMIM:184250 COL2A1 1280 HP:0004322 Short stature OMIM:184250 COL2A1 1280 HP:0000926 Platyspondyly OMIM:184250 COL2A1 1280 HP:0002093 Respiratory insufficiency OMIM:184250 COL2A1 1280 HP:0011860 Metaphyseal dappling OMIM:184250 COL2A1 1280 HP:0002812 Coxa vara OMIM:184250 COL2A1 1280 HP:0000907 Anterior rib cupping OMIM:184250 COL2A1 1280 HP:0010306 Short thorax OMIM:184250 COL2A1 1280 HP:0001883 Talipes OMIM:184250 COL2A1 1280 HP:0000545 Myopia OMIM:184250 COL2A1 1280 HP:0001538 Protuberant abdomen OMIM:184250 COL2A1 1280 HP:0002650 Scoliosis OMIM:184250 COL2A1 1280 HP:0000023 Inguinal hernia OMIM:184250 COL2A1 1280 HP:0001763 Pes planus OMIM:184250 COL2A1 1280 HP:0000541 Retinal detachment OMIM:184250 COL2A1 1280 HP:0002758 Osteoarthritis OMIM:184250 COL2A1 1280 HP:0001288 Gait disturbance OMIM:184250 COL2A1 1280 HP:0000272 Malar flattening OMIM:184250 COL2A1 1280 HP:0003375 Narrow greater sacrosciatic notches OMIM:184250 COL2A1 1280 HP:0000006 Autosomal dominant inheritance OMIM:184250 COL2A1 1280 HP:0002823 Abnormality of the femur OMIM:184250 COL2A1 1280 HP:0002652 Skeletal dysplasia OMIM:184250 COL2A1 1280 HP:0000768 Pectus carinatum OMIM:184250 COL2A1 1280 HP:0003173 Hypoplastic pubic bone OMIM:184250 COL2A1 1280 HP:0006406 Club-shaped proximal femur OMIM:184250 COL2A1 1280 HP:0003025 Metaphyseal irregularity OMIM:184250 COL2A1 1280 HP:0002983 Micromelia OMIM:184250 COL2A1 1280 HP:0002808 Kyphosis OMIM:186300 HOXD13 3239 HP:0009779 3-4 toe syndactyly OMIM:186300 HOXD13 3239 HP:0009882 Short distal phalanx of finger OMIM:186300 HOXD13 3239 HP:0005867 Fused fourth and fifth metacarpals OMIM:186300 HOXD13 3239 HP:0000006 Autosomal dominant inheritance OMIM:186300 HOXD13 3239 HP:0004209 Clinodactyly of the 5th finger OMIM:186300 HOXD13 3239 HP:0006101 Finger syndactyly OMIM:186300 HOXD13 3239 HP:0004692 4-5 toe syndactyly OMIM:186300 HOXD13 3239 HP:0100490 Camptodactyly of finger OMIM:186300 HOXD13 3239 HP:0001032 Absent distal interphalangeal creases OMIM:186300 HOXD13 3239 HP:0009702 Carpal synostosis OMIM:186300 HOXD13 3239 HP:0010554 Cutaneous finger syndactyly OMIM:186300 HOXD13 3239 HP:0001156 Brachydactyly syndrome OMIM:186300 HOXD13 3239 HP:0006185 Enlarged proximal interphalangeal joints OMIM:186300 HOXD13 3239 HP:0009465 Ulnar deviation of finger OMIM:186300 HOXD13 3239 HP:0009473 Joint contracture of the hand OMIM:300534 KDM5C 8242 HP:0001773 Short foot OMIM:300534 KDM5C 8242 HP:0001883 Talipes OMIM:300534 KDM5C 8242 HP:0000490 Deeply set eye OMIM:300534 KDM5C 8242 HP:0000699 Diastema OMIM:300534 KDM5C 8242 HP:0002229 Alopecia areata OMIM:300534 KDM5C 8242 HP:0001762 Talipes equinovarus OMIM:300534 KDM5C 8242 HP:0000540 Hypermetropia OMIM:300534 KDM5C 8242 HP:0000711 Restlessness OMIM:300534 KDM5C 8242 HP:0001176 Large hands OMIM:300534 KDM5C 8242 HP:0000252 Microcephaly OMIM:300534 KDM5C 8242 HP:0007020 Progressive spastic paraplegia OMIM:300534 KDM5C 8242 HP:0000426 Prominent nasal bridge OMIM:300534 KDM5C 8242 HP:0001250 Seizures OMIM:300534 KDM5C 8242 HP:0000297 Facial hypotonia OMIM:300534 KDM5C 8242 HP:0000054 Micropenis OMIM:300534 KDM5C 8242 HP:0000174 Abnormality of the palate OMIM:300534 KDM5C 8242 HP:0000256 Macrocephaly OMIM:300534 KDM5C 8242 HP:0004322 Short stature OMIM:300534 KDM5C 8242 HP:0002362 Shuffling gait OMIM:300534 KDM5C 8242 HP:0000218 High palate OMIM:300534 KDM5C 8242 HP:0000545 Myopia OMIM:300534 KDM5C 8242 HP:0000717 Autism OMIM:300534 KDM5C 8242 HP:0001156 Brachydactyly syndrome OMIM:300534 KDM5C 8242 HP:0008124 Talipes calcaneovarus OMIM:300534 KDM5C 8242 HP:0000347 Micrognathia OMIM:300534 KDM5C 8242 HP:0000486 Strabismus OMIM:300534 KDM5C 8242 HP:0000319 Smooth philtrum OMIM:300534 KDM5C 8242 HP:0100490 Camptodactyly of finger OMIM:300534 KDM5C 8242 HP:0001419 X-linked recessive inheritance OMIM:300534 KDM5C 8242 HP:0001347 Hyperreflexia OMIM:300534 KDM5C 8242 HP:0000400 Macrotia OMIM:300534 KDM5C 8242 HP:0000327 Hypoplasia of the maxilla OMIM:300534 KDM5C 8242 HP:0000957 Cafe-au-lait spot OMIM:300534 KDM5C 8242 HP:0006887 Intellectual disability, progressive OMIM:300534 KDM5C 8242 HP:0009882 Short distal phalanx of finger OMIM:300534 KDM5C 8242 HP:0000219 Thin upper lip vermilion OMIM:300534 KDM5C 8242 HP:0006895 Lower limb hypertonia OMIM:300534 KDM5C 8242 HP:0000221 Furrowed tongue OMIM:300534 KDM5C 8242 HP:0000035 Abnormality of the testis OMIM:300534 KDM5C 8242 HP:0000744 Low frustration tolerance OMIM:300534 KDM5C 8242 HP:0000767 Pectus excavatum OMIM:300534 KDM5C 8242 HP:0100543 Cognitive impairment OMIM:300534 KDM5C 8242 HP:0002167 Neurological speech impairment OMIM:300534 KDM5C 8242 HP:0002395 Lower limb hyperreflexia OMIM:300534 KDM5C 8242 HP:0001182 Tapered finger OMIM:300534 KDM5C 8242 HP:0008734 Decreased testicular size OMIM:300534 KDM5C 8242 HP:0000718 Aggressive behavior OMIM:300534 KDM5C 8242 HP:0001276 Hypertonia OMIM:300534 KDM5C 8242 HP:0008944 Distal lower limb amyotrophy OMIM:300534 KDM5C 8242 HP:0000377 Abnormality of the pinna OMIM:300534 KDM5C 8242 HP:0010864 Intellectual disability, severe OMIM:300534 KDM5C 8242 HP:0000303 Mandibular prognathia OMIM:300534 KDM5C 8242 HP:0003487 Babinski sign OMIM:300534 KDM5C 8242 HP:0000350 Small forehead OMIM:300534 KDM5C 8242 HP:0000582 Upslanted palpebral fissure OMIM:300534 KDM5C 8242 HP:0004097 Deviation of finger OMIM:300534 KDM5C 8242 HP:0000028 Cryptorchidism OMIM:613801 PDE6B 5158 HP:0000510 Retinitis pigmentosa OMIM:613801 PDE6B 5158 HP:0000007 Autosomal recessive inheritance OMIM:613801 PDE6B 5158 HP:0008323 Abnormal rod and cone electroretinograms OMIM:227400 F5 2153 HP:0005542 Prolonged whole-blood clotting time OMIM:227400 F5 2153 HP:0003010 Prolonged bleeding time OMIM:227400 F5 2153 HP:0000421 Epistaxis OMIM:227400 F5 2153 HP:0003645 Prolonged partial thromboplastin time OMIM:227400 F5 2153 HP:0000978 Bruising susceptibility OMIM:227400 F5 2153 HP:0003225 Reduced factor V activity OMIM:227400 F5 2153 HP:0000007 Autosomal recessive inheritance OMIM:227400 F5 2153 HP:0001892 Abnormal bleeding OMIM:227400 F5 2153 HP:0000132 Menorrhagia OMIM:615471 FBXL4 26235 HP:0011120 Concave nasal ridge OMIM:615471 FBXL4 26235 HP:0001947 Renal tubular acidosis OMIM:615471 FBXL4 26235 HP:0000252 Microcephaly OMIM:615471 FBXL4 26235 HP:0000275 Narrow face OMIM:615471 FBXL4 26235 HP:0001272 Cerebellar atrophy OMIM:615471 FBXL4 26235 HP:0001510 Growth delay OMIM:615471 FBXL4 26235 HP:0001250 Seizures OMIM:615471 FBXL4 26235 HP:0000047 Hypospadias OMIM:615471 FBXL4 26235 HP:0001518 Small for gestational age OMIM:615471 FBXL4 26235 HP:0002910 Elevated hepatic transaminases OMIM:615471 FBXL4 26235 HP:0000286 Epicanthus OMIM:615471 FBXL4 26235 HP:0011675 Arrhythmia OMIM:615471 FBXL4 26235 HP:0012448 Delayed myelination OMIM:615471 FBXL4 26235 HP:0003812 Phenotypic variability OMIM:615471 FBXL4 26235 HP:0002079 Hypoplasia of the corpus callosum OMIM:615471 FBXL4 26235 HP:0001298 Encephalopathy OMIM:615471 FBXL4 26235 HP:0001332 Dystonia OMIM:615471 FBXL4 26235 HP:0000411 Protruding ear OMIM:615471 FBXL4 26235 HP:0000232 Everted lower lip vermilion OMIM:615471 FBXL4 26235 HP:0001251 Ataxia OMIM:615471 FBXL4 26235 HP:0000574 Thick eyebrow OMIM:615471 FBXL4 26235 HP:0002415 Leukodystrophy OMIM:615471 FBXL4 26235 HP:0001266 Choreoathetosis OMIM:615471 FBXL4 26235 HP:0002650 Scoliosis OMIM:615471 FBXL4 26235 HP:0001263 Global developmental delay OMIM:615471 FBXL4 26235 HP:0001357 Plagiocephaly OMIM:615471 FBXL4 26235 HP:0002719 Recurrent infections OMIM:615471 FBXL4 26235 HP:0000518 Cataract OMIM:615471 FBXL4 26235 HP:0000494 Downslanted palpebral fissures OMIM:615471 FBXL4 26235 HP:0200125 Mitochondrial respiratory chain defects OMIM:615471 FBXL4 26235 HP:0003348 Hyperalaninemia OMIM:615471 FBXL4 26235 HP:0001252 Muscular hypotonia OMIM:615471 FBXL4 26235 HP:0001875 Neutropenia OMIM:615471 FBXL4 26235 HP:0002059 Cerebral atrophy OMIM:615471 FBXL4 26235 HP:0000007 Autosomal recessive inheritance OMIM:615471 FBXL4 26235 HP:0001508 Failure to thrive OMIM:615471 FBXL4 26235 HP:0002020 Gastroesophageal reflux OMIM:615471 FBXL4 26235 HP:0001773 Short foot OMIM:615471 FBXL4 26235 HP:0002151 Increased serum lactate OMIM:615471 FBXL4 26235 HP:0002015 Dysphagia OMIM:615471 FBXL4 26235 HP:0000639 Nystagmus OMIM:615471 FBXL4 26235 HP:0003128 Lactic acidosis OMIM:615471 FBXL4 26235 HP:0001639 Hypertrophic cardiomyopathy OMIM:615471 FBXL4 26235 HP:0003202 Skeletal muscle atrophy OMIM:603902 HBB 3043 HP:0001392 Abnormality of the liver OMIM:603902 HBB 3043 HP:0000980 Pallor OMIM:603902 HBB 3043 HP:0001935 Microcytic anemia OMIM:603902 HBB 3043 HP:0010472 Abnormality of the heme biosynthetic pathway OMIM:603902 HBB 3043 HP:0001744 Splenomegaly OMIM:309000 OCRL 4952 HP:0006297 Hypoplasia of dental enamel OMIM:309000 OCRL 4952 HP:0100530 Abnormality of calcium-phosphate metabolism OMIM:309000 OCRL 4952 HP:0001482 Subcutaneous nodule OMIM:309000 OCRL 4952 HP:0000790 Hematuria OMIM:309000 OCRL 4952 HP:0002827 Hip dislocation OMIM:309000 OCRL 4952 HP:0000843 Hyperparathyroidism OMIM:309000 OCRL 4952 HP:0007018 Attention deficit hyperactivity disorder OMIM:309000 OCRL 4952 HP:0000987 Atypical scarring of skin OMIM:309000 OCRL 4952 HP:0002857 Genu valgum OMIM:309000 OCRL 4952 HP:0000230 Gingivitis OMIM:309000 OCRL 4952 HP:0000568 Microphthalmos OMIM:309000 OCRL 4952 HP:0000682 Abnormality of dental enamel OMIM:309000 OCRL 4952 HP:0000519 Congenital cataract OMIM:309000 OCRL 4952 HP:0000505 Visual impairment OMIM:309000 OCRL 4952 HP:0001419 X-linked recessive inheritance OMIM:309000 OCRL 4952 HP:0001608 Abnormality of the voice OMIM:309000 OCRL 4952 HP:0002749 Osteomalacia OMIM:309000 OCRL 4952 HP:0000083 Renal insufficiency OMIM:309000 OCRL 4952 HP:0001944 Dehydration OMIM:309000 OCRL 4952 HP:0002119 Ventriculomegaly OMIM:309000 OCRL 4952 HP:0100825 Cheilitis OMIM:309000 OCRL 4952 HP:0002900 Hypokalemia OMIM:309000 OCRL 4952 HP:0000632 Lacrimation abnormality OMIM:309000 OCRL 4952 HP:0000025 Functional abnormality of male internal genitalia OMIM:309000 OCRL 4952 HP:0000486 Strabismus OMIM:309000 OCRL 4952 HP:0004322 Short stature OMIM:309000 OCRL 4952 HP:0000859 Hyperaldosteronism OMIM:309000 OCRL 4952 HP:0000343 Long philtrum OMIM:309000 OCRL 4952 HP:0000091 Abnormality of the renal tubule OMIM:309000 OCRL 4952 HP:0001382 Joint hypermobility OMIM:309000 OCRL 4952 HP:0002756 Pathologic fracture OMIM:309000 OCRL 4952 HP:0000684 Delayed eruption of teeth OMIM:309000 OCRL 4952 HP:0002007 Frontal bossing OMIM:309000 OCRL 4952 HP:0003355 Aminoaciduria OMIM:309000 OCRL 4952 HP:0001537 Umbilical hernia OMIM:309000 OCRL 4952 HP:0001319 Neonatal hypotonia OMIM:309000 OCRL 4952 HP:0011362 Abnormal hair quantity OMIM:309000 OCRL 4952 HP:0000689 Dental malocclusion OMIM:309000 OCRL 4952 HP:0100512 Vitamin D deficiency OMIM:309000 OCRL 4952 HP:0002002 Deep philtrum OMIM:309000 OCRL 4952 HP:0001225 Wrist swelling OMIM:309000 OCRL 4952 HP:0002049 Proximal renal tubular acidosis OMIM:309000 OCRL 4952 HP:0100750 Atelectasis OMIM:309000 OCRL 4952 HP:0001873 Thrombocytopenia OMIM:309000 OCRL 4952 HP:0000670 Carious teeth OMIM:309000 OCRL 4952 HP:0000501 Glaucoma OMIM:309000 OCRL 4952 HP:0000639 Nystagmus OMIM:309000 OCRL 4952 HP:0008069 Neoplasm of the skin OMIM:309000 OCRL 4952 HP:0000873 Diabetes insipidus OMIM:309000 OCRL 4952 HP:0000557 Buphthalmos OMIM:309000 OCRL 4952 HP:0010471 Oligosacchariduria OMIM:309000 OCRL 4952 HP:0000518 Cataract OMIM:309000 OCRL 4952 HP:0100716 Self-injurious behavior OMIM:309000 OCRL 4952 HP:0100493 Hypoammonemia OMIM:309000 OCRL 4952 HP:0003272 Abnormality of the hip bone OMIM:309000 OCRL 4952 HP:0005984 Elevated maternal serum alpha-fetoprotein OMIM:309000 OCRL 4952 HP:0000194 Open mouth OMIM:309000 OCRL 4952 HP:0000490 Deeply set eye OMIM:309000 OCRL 4952 HP:0000944 Abnormality of the metaphyses OMIM:309000 OCRL 4952 HP:0100490 Camptodactyly of finger OMIM:309000 OCRL 4952 HP:0002748 Rickets OMIM:309000 OCRL 4952 HP:0001386 Joint swelling OMIM:309000 OCRL 4952 HP:0000232 Everted lower lip vermilion OMIM:309000 OCRL 4952 HP:0002150 Hypercalciuria OMIM:309000 OCRL 4952 HP:0002808 Kyphosis OMIM:309000 OCRL 4952 HP:0000377 Abnormality of the pinna OMIM:309000 OCRL 4952 HP:0001250 Seizures OMIM:309000 OCRL 4952 HP:0000028 Cryptorchidism OMIM:309000 OCRL 4952 HP:0001249 Intellectual disability OMIM:309000 OCRL 4952 HP:0001369 Arthritis OMIM:309000 OCRL 4952 HP:0000113 Polycystic kidney dysplasia OMIM:309000 OCRL 4952 HP:0000121 Nephrocalcinosis OMIM:309000 OCRL 4952 HP:0002650 Scoliosis OMIM:309000 OCRL 4952 HP:0000787 Nephrolithiasis OMIM:309000 OCRL 4952 HP:0002093 Respiratory insufficiency OMIM:309000 OCRL 4952 HP:0100589 Urogenital fistula OMIM:309000 OCRL 4952 HP:0002213 Fine hair OMIM:309000 OCRL 4952 HP:0000615 Abnormality of the pupil OMIM:309000 OCRL 4952 HP:0001284 Areflexia OMIM:309000 OCRL 4952 HP:0004639 Elevated amniotic fluid alpha-fetoprotein OMIM:309000 OCRL 4952 HP:0004349 Reduced bone mineral density OMIM:309000 OCRL 4952 HP:0001903 Anemia OMIM:309000 OCRL 4952 HP:0002999 Patellar dislocation OMIM:309000 OCRL 4952 HP:0000347 Micrognathia OMIM:309000 OCRL 4952 HP:0001376 Limitation of joint mobility OMIM:309000 OCRL 4952 HP:0003646 Bicarbonaturia OMIM:309000 OCRL 4952 HP:0000718 Aggressive behavior OMIM:309000 OCRL 4952 HP:0000582 Upslanted palpebral fissure OMIM:309000 OCRL 4952 HP:0000093 Proteinuria OMIM:309000 OCRL 4952 HP:0008063 Aplasia/Hypoplasia of the lens OMIM:309000 OCRL 4952 HP:0004305 Involuntary movements OMIM:309000 OCRL 4952 HP:0000388 Otitis media OMIM:309000 OCRL 4952 HP:0005930 Abnormality of epiphysis morphology OMIM:309000 OCRL 4952 HP:0001508 Failure to thrive OMIM:309000 OCRL 4952 HP:0000174 Abnormality of the palate OMIM:309000 OCRL 4952 HP:0000276 Long face OMIM:309000 OCRL 4952 HP:0002205 Recurrent respiratory infections OMIM:309000 OCRL 4952 HP:0000303 Mandibular prognathia OMIM:309000 OCRL 4952 HP:0000532 Chorioretinal abnormality OMIM:309000 OCRL 4952 HP:0009804 Reduced number of teeth OMIM:309000 OCRL 4952 HP:0002019 Constipation OMIM:309000 OCRL 4952 HP:0000926 Platyspondyly OMIM:309000 OCRL 4952 HP:0002167 Neurological speech impairment OMIM:309000 OCRL 4952 HP:0000368 Low-set, posteriorly rotated ears OMIM:309000 OCRL 4952 HP:0000772 Abnormality of the ribs OMIM:309000 OCRL 4952 HP:0003109 Hyperphosphaturia OMIM:309000 OCRL 4952 HP:0100835 Benign neoplasm of the central nervous system OMIM:309000 OCRL 4952 HP:0003119 Abnormality of lipid metabolism OMIM:309000 OCRL 4952 HP:0008872 Feeding difficulties in infancy OMIM:309000 OCRL 4952 HP:0000679 Taurodontia OMIM:309000 OCRL 4952 HP:0003148 Elevated serum acid phosphatase OMIM:309000 OCRL 4952 HP:0001994 Renal Fanconi syndrome OMIM:309000 OCRL 4952 HP:0007109 Periventricular cysts OMIM:309000 OCRL 4952 HP:0003124 Hypercholesterolemia OMIM:309000 OCRL 4952 HP:0002757 Recurrent fractures OMIM:309000 OCRL 4952 HP:0100820 Glomerulopathy OMIM:309000 OCRL 4952 HP:0007948 Dense posterior cortical cataract OMIM:309000 OCRL 4952 HP:0001252 Muscular hypotonia OMIM:309000 OCRL 4952 HP:0100543 Cognitive impairment OMIM:309000 OCRL 4952 HP:0001315 Reduced tendon reflexes OMIM:309000 OCRL 4952 HP:0000722 Obsessive-compulsive behavior OMIM:309000 OCRL 4952 HP:0000704 Periodontitis OMIM:309000 OCRL 4952 HP:0000733 Stereotypic behavior OMIM:309000 OCRL 4952 HP:0002024 Malabsorption OMIM:309000 OCRL 4952 HP:0000233 Thin vermilion border OMIM:309000 OCRL 4952 HP:0200042 Skin ulcer OMIM:309000 OCRL 4952 HP:0007513 Generalized hypopigmentation OMIM:309000 OCRL 4952 HP:0100612 Odontogenic neoplasm OMIM:309000 OCRL 4952 HP:0002148 Hypophosphatemia OMIM:309000 OCRL 4952 HP:0002353 EEG abnormality OMIM:309000 OCRL 4952 HP:0000293 Full cheeks OMIM:309000 OCRL 4952 HP:0007759 Opacification of the corneal stroma OMIM:309000 OCRL 4952 HP:0002902 Hyponatremia OMIM:309000 OCRL 4952 HP:0010299 Abnormality of dentin OMIM:614496 CUL3 8452 HP:0011423 Hyperchloremia OMIM:614496 CUL3 8452 HP:0002153 Hyperkalemia OMIM:614496 CUL3 8452 HP:0008242 Pseudohypoaldosteronism OMIM:614496 CUL3 8452 HP:0000822 Hypertension OMIM:614496 CUL3 8452 HP:0001942 Metabolic acidosis OMIM:614496 CUL3 8452 HP:0000006 Autosomal dominant inheritance OMIM:267300 ATP6V1B1 525 HP:0000407 Sensorineural hearing impairment OMIM:267300 ATP6V1B1 525 HP:0000007 Autosomal recessive inheritance OMIM:267300 ATP6V1B1 525 HP:0000787 Nephrolithiasis OMIM:267300 ATP6V1B1 525 HP:0001947 Renal tubular acidosis OMIM:186960 TCL1A 8115 HP:0001909 Leukemia OMIM:186960 TCL1A 8115 HP:0005517 T-cell lymphoma/leukemia OMIM:601494 TNNT2 7139 HP:0001644 Dilated cardiomyopathy OMIM:601494 TNNT2 7139 HP:0005110 Atrial fibrillation OMIM:601494 TNNT2 7139 HP:0000006 Autosomal dominant inheritance OMIM:601494 TNNT2 7139 HP:0001699 Sudden death OMIM:601494 TNNT2 7139 HP:0001712 Left ventricular hypertrophy OMIM:601494 TNNT2 7139 HP:0001635 Congestive heart failure OMIM:615473 GNAO1 2775 HP:0002079 Hypoplasia of the corpus callosum OMIM:615473 GNAO1 2775 HP:0012448 Delayed myelination OMIM:615473 GNAO1 2775 HP:0002305 Athetosis OMIM:615473 GNAO1 2775 HP:0000006 Autosomal dominant inheritance OMIM:615473 GNAO1 2775 HP:0002521 Hypsarrhythmia OMIM:615473 GNAO1 2775 HP:0002059 Cerebral atrophy OMIM:615473 GNAO1 2775 HP:0010818 Generalized tonic seizures OMIM:615473 GNAO1 2775 HP:0001332 Dystonia OMIM:615473 GNAO1 2775 HP:0001263 Global developmental delay OMIM:615473 GNAO1 2775 HP:0200134 Epileptic encephalopathy OMIM:615473 GNAO1 2775 HP:0001344 Absent speech OMIM:615473 GNAO1 2775 HP:0002072 Chorea OMIM:612528 RPL35A 6165 HP:0001882 Leukopenia OMIM:612528 RPL35A 6165 HP:0001629 Ventricular septal defect OMIM:612528 RPL35A 6165 HP:0000047 Hypospadias OMIM:612528 RPL35A 6165 HP:0001972 Macrocytic anemia OMIM:612528 RPL35A 6165 HP:0000316 Hypertelorism OMIM:612528 RPL35A 6165 HP:0012133 Erythroid hypoplasia OMIM:612528 RPL35A 6165 HP:0001263 Global developmental delay OMIM:612528 RPL35A 6165 HP:0000369 Low-set ears OMIM:615919 PCNA 5111 HP:0002015 Dysphagia OMIM:615919 PCNA 5111 HP:0001251 Ataxia OMIM:615919 PCNA 5111 HP:0002317 Unsteady gait OMIM:615919 PCNA 5111 HP:0001371 Flexion contracture OMIM:615919 PCNA 5111 HP:0000992 Cutaneous photosensitivity OMIM:615919 PCNA 5111 HP:0000252 Microcephaly OMIM:615919 PCNA 5111 HP:0001761 Pes cavus OMIM:615919 PCNA 5111 HP:0001324 Muscle weakness OMIM:615919 PCNA 5111 HP:0001272 Cerebellar atrophy OMIM:615919 PCNA 5111 HP:0000613 Photophobia OMIM:615919 PCNA 5111 HP:0002180 Neurodegeneration OMIM:615919 PCNA 5111 HP:0001263 Global developmental delay OMIM:615919 PCNA 5111 HP:0001260 Dysarthria OMIM:615919 PCNA 5111 HP:0000524 Conjunctival telangiectasia OMIM:614557 FKBP14 55033 HP:0000938 Osteopenia OMIM:614557 FKBP14 55033 HP:0003198 Myopathy OMIM:614557 FKBP14 55033 HP:0000185 Cleft soft palate OMIM:614557 FKBP14 55033 HP:0001643 Patent ductus arteriosus OMIM:614557 FKBP14 55033 HP:0000023 Inguinal hernia OMIM:614557 FKBP14 55033 HP:0001252 Muscular hypotonia OMIM:614557 FKBP14 55033 HP:0000977 Soft skin OMIM:614557 FKBP14 55033 HP:0001763 Pes planus OMIM:614557 FKBP14 55033 HP:0007502 Follicular hyperkeratosis OMIM:614557 FKBP14 55033 HP:0000974 Hyperextensible skin OMIM:614557 FKBP14 55033 HP:0002421 Poor head control OMIM:614557 FKBP14 55033 HP:0000978 Bruising susceptibility OMIM:614557 FKBP14 55033 HP:0000007 Autosomal recessive inheritance OMIM:614557 FKBP14 55033 HP:0001537 Umbilical hernia OMIM:614557 FKBP14 55033 HP:0000015 Bladder diverticulum OMIM:614557 FKBP14 55033 HP:0001762 Talipes equinovarus OMIM:614557 FKBP14 55033 HP:0003812 Phenotypic variability OMIM:614557 FKBP14 55033 HP:0002751 Kyphoscoliosis OMIM:614557 FKBP14 55033 HP:0000545 Myopia OMIM:614557 FKBP14 55033 HP:0001270 Motor delay OMIM:614557 FKBP14 55033 HP:0001757 High-frequency sensorineural hearing impairment OMIM:614557 FKBP14 55033 HP:0003202 Skeletal muscle atrophy OMIM:130050 COL3A1 1281 HP:0001030 Fragile skin OMIM:130050 COL3A1 1281 HP:0000615 Abnormality of the pupil OMIM:130050 COL3A1 1281 HP:0000316 Hypertelorism OMIM:130050 COL3A1 1281 HP:0000446 Narrow nasal bridge OMIM:130050 COL3A1 1281 HP:0000368 Low-set, posteriorly rotated ears OMIM:130050 COL3A1 1281 HP:0000023 Inguinal hernia OMIM:130050 COL3A1 1281 HP:0000506 Telecanthus OMIM:130050 COL3A1 1281 HP:0000973 Cutis laxa OMIM:130050 COL3A1 1281 HP:0000978 Bruising susceptibility OMIM:130050 COL3A1 1281 HP:0100689 Decreased corneal thickness OMIM:130050 COL3A1 1281 HP:0004372 Reduced consciousness/confusion OMIM:130050 COL3A1 1281 HP:0000272 Malar flattening OMIM:130050 COL3A1 1281 HP:0002321 Vertigo OMIM:130050 COL3A1 1281 HP:0100543 Cognitive impairment OMIM:130050 COL3A1 1281 HP:0001622 Premature birth OMIM:130050 COL3A1 1281 HP:0005244 Gastrointestinal infarctions OMIM:130050 COL3A1 1281 HP:0001073 Cigarette-paper scars OMIM:130050 COL3A1 1281 HP:0006480 Premature loss of teeth OMIM:130050 COL3A1 1281 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature OMIM:130050 COL3A1 1281 HP:0001633 Abnormality of the mitral valve OMIM:130050 COL3A1 1281 HP:0000563 Keratoconus OMIM:130050 COL3A1 1281 HP:0000286 Epicanthus OMIM:130050 COL3A1 1281 HP:0009906 Aplasia/Hypoplasia of the earlobes OMIM:130050 COL3A1 1281 HP:0000499 Abnormality of the eyelashes OMIM:130050 COL3A1 1281 HP:0009771 Osteolytic defects of the phalanges of the hand OMIM:130050 COL3A1 1281 HP:0001371 Flexion contracture OMIM:130050 COL3A1 1281 HP:0002242 Abnormality of the intestine OMIM:130050 COL3A1 1281 HP:0002900 Hypokalemia OMIM:130050 COL3A1 1281 HP:0004944 Cerebral aneurysm OMIM:130050 COL3A1 1281 HP:0000233 Thin vermilion border OMIM:130050 COL3A1 1281 HP:0001382 Joint hypermobility OMIM:130050 COL3A1 1281 HP:0000015 Bladder diverticulum OMIM:130050 COL3A1 1281 HP:0000501 Glaucoma OMIM:130050 COL3A1 1281 HP:0001842 Acroosteolysis (feet) OMIM:130050 COL3A1 1281 HP:0000230 Gingivitis OMIM:130050 COL3A1 1281 HP:0000508 Ptosis OMIM:130050 COL3A1 1281 HP:0006201 Hypermobility of distal interphalangeal joints OMIM:130050 COL3A1 1281 HP:0002093 Respiratory insufficiency OMIM:130050 COL3A1 1281 HP:0005293 Venous insufficiency OMIM:130050 COL3A1 1281 HP:0000212 Gingival overgrowth OMIM:130050 COL3A1 1281 HP:0002076 Migraine OMIM:130050 COL3A1 1281 HP:0004322 Short stature OMIM:130050 COL3A1 1281 HP:0000520 Proptosis OMIM:130050 COL3A1 1281 HP:0005294 Arterial dissection OMIM:130050 COL3A1 1281 HP:0000995 Melanocytic nevus OMIM:130050 COL3A1 1281 HP:0007495 Prematurely aged appearance OMIM:130050 COL3A1 1281 HP:0000079 Abnormality of the urinary system OMIM:130050 COL3A1 1281 HP:0005111 Dilatation of the ascending aorta OMIM:130050 COL3A1 1281 HP:0000490 Deeply set eye OMIM:130050 COL3A1 1281 HP:0000387 Absent earlobe OMIM:130050 COL3A1 1281 HP:0002104 Apnea OMIM:130050 COL3A1 1281 HP:0000211 Trismus OMIM:130050 COL3A1 1281 HP:0000993 Molluscoid pseudotumors OMIM:130050 COL3A1 1281 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:130050 COL3A1 1281 HP:0100784 Peripheral arteriovenous fistula OMIM:130050 COL3A1 1281 HP:0002637 Cerebral ischemia OMIM:130050 COL3A1 1281 HP:0001063 Acrocyanosis OMIM:130050 COL3A1 1281 HP:0000912 Sprengel anomaly OMIM:130050 COL3A1 1281 HP:0001762 Talipes equinovarus OMIM:130050 COL3A1 1281 HP:0002647 Aortic dissection OMIM:130050 COL3A1 1281 HP:0002797 Osteolysis OMIM:130050 COL3A1 1281 HP:0100817 Renovascular hypertension OMIM:130050 COL3A1 1281 HP:0000028 Cryptorchidism OMIM:130050 COL3A1 1281 HP:0003272 Abnormality of the hip bone OMIM:130050 COL3A1 1281 HP:0006323 Premature loss of primary teeth OMIM:130050 COL3A1 1281 HP:0005267 Premature delivery because of cervical insufficiency or membrane fragility OMIM:130050 COL3A1 1281 HP:0000704 Periodontitis OMIM:130050 COL3A1 1281 HP:0001373 Joint dislocation OMIM:130050 COL3A1 1281 HP:0000139 Uterine prolapse OMIM:130050 COL3A1 1281 HP:0002105 Hemoptysis OMIM:130050 COL3A1 1281 HP:0002293 Alopecia of scalp OMIM:130050 COL3A1 1281 HP:0000006 Autosomal dominant inheritance OMIM:130050 COL3A1 1281 HP:0002758 Osteoarthritis OMIM:130050 COL3A1 1281 HP:0001883 Talipes OMIM:130050 COL3A1 1281 HP:0001034 Hypermelanotic macule OMIM:130050 COL3A1 1281 HP:0001596 Alopecia OMIM:130050 COL3A1 1281 HP:0100645 Cystocele OMIM:130050 COL3A1 1281 HP:0000987 Atypical scarring of skin OMIM:130050 COL3A1 1281 HP:0002617 Aneurysm OMIM:130050 COL3A1 1281 HP:0000790 Hematuria OMIM:130050 COL3A1 1281 HP:0100585 Teleangiectasia of the skin OMIM:130050 COL3A1 1281 HP:0100627 Displacement of the external urethral meatus OMIM:130050 COL3A1 1281 HP:0100718 Uterine rupture OMIM:130050 COL3A1 1281 HP:0001537 Umbilical hernia OMIM:130050 COL3A1 1281 HP:0000670 Carious teeth OMIM:130050 COL3A1 1281 HP:0002103 Abnormality of the pleura OMIM:130050 COL3A1 1281 HP:0000592 Blue sclerae OMIM:130050 COL3A1 1281 HP:0004414 Abnormality of the pulmonary artery OMIM:130050 COL3A1 1281 HP:0000767 Pectus excavatum OMIM:130050 COL3A1 1281 HP:0000691 Microdontia OMIM:130050 COL3A1 1281 HP:0000174 Abnormality of the palate OMIM:130050 COL3A1 1281 HP:0010719 Abnormality of hair texture OMIM:130050 COL3A1 1281 HP:0000963 Thin skin OMIM:130050 COL3A1 1281 HP:0001634 Mitral valve prolapse OMIM:130050 COL3A1 1281 HP:0001928 Abnormality of coagulation OMIM:130050 COL3A1 1281 HP:0002108 Spontaneous pneumothorax OMIM:107690 APOA4 337 HP:0000006 Autosomal dominant inheritance OMIM:125851 GCK 2645 HP:0000006 Autosomal dominant inheritance OMIM:125851 GCK 2645 HP:0004904 Maturity-onset diabetes of the young OMIM:123150 FGFR1 2260 HP:0009891 Underdeveloped supraorbital ridges OMIM:123150 FGFR1 2260 HP:0001770 Toe syndactyly OMIM:123150 FGFR1 2260 HP:0008122 Calcaneonavicular fusion OMIM:123150 FGFR1 2260 HP:0000520 Proptosis OMIM:123150 FGFR1 2260 HP:0008368 Tarsal synostosis OMIM:123150 FGFR1 2260 HP:0004691 2-3 toe syndactyly OMIM:123150 FGFR1 2260 HP:0001783 Broad metatarsal OMIM:123150 FGFR1 2260 HP:0006101 Finger syndactyly OMIM:123150 FGFR1 2260 HP:0000444 Convex nasal ridge OMIM:123150 FGFR1 2260 HP:0011800 Midface retrusion OMIM:123150 FGFR1 2260 HP:0001841 Preaxial foot polydactyly OMIM:123150 FGFR1 2260 HP:0010743 Short metatarsal OMIM:123150 FGFR1 2260 HP:0010055 Broad hallux OMIM:123150 FGFR1 2260 HP:0002007 Frontal bossing OMIM:123150 FGFR1 2260 HP:0000272 Malar flattening OMIM:123150 FGFR1 2260 HP:0000316 Hypertelorism OMIM:123150 FGFR1 2260 HP:0000006 Autosomal dominant inheritance OMIM:123150 FGFR1 2260 HP:0000508 Ptosis OMIM:123150 FGFR1 2260 HP:0000486 Strabismus OMIM:123150 FGFR1 2260 HP:0001363 Craniosynostosis OMIM:123150 FGFR1 2260 HP:0001839 Split foot OMIM:123150 FGFR1 2260 HP:0000174 Abnormality of the palate OMIM:123150 FGFR1 2260 HP:0008080 Hallux varus OMIM:123150 FGFR1 2260 HP:0009773 Symphalangism affecting the phalanges of the hand OMIM:123150 FGFR1 2260 HP:0002991 Abnormality of the fibula OMIM:123150 FGFR1 2260 HP:0000303 Mandibular prognathia OMIM:123150 FGFR2 2263 HP:0009891 Underdeveloped supraorbital ridges OMIM:123150 FGFR2 2263 HP:0001770 Toe syndactyly OMIM:123150 FGFR2 2263 HP:0008122 Calcaneonavicular fusion OMIM:123150 FGFR2 2263 HP:0000520 Proptosis OMIM:123150 FGFR2 2263 HP:0008368 Tarsal synostosis OMIM:123150 FGFR2 2263 HP:0004691 2-3 toe syndactyly OMIM:123150 FGFR2 2263 HP:0001783 Broad metatarsal OMIM:123150 FGFR2 2263 HP:0006101 Finger syndactyly OMIM:123150 FGFR2 2263 HP:0000444 Convex nasal ridge OMIM:123150 FGFR2 2263 HP:0011800 Midface retrusion OMIM:123150 FGFR2 2263 HP:0001841 Preaxial foot polydactyly OMIM:123150 FGFR2 2263 HP:0010743 Short metatarsal OMIM:123150 FGFR2 2263 HP:0010055 Broad hallux OMIM:123150 FGFR2 2263 HP:0002007 Frontal bossing OMIM:123150 FGFR2 2263 HP:0000272 Malar flattening OMIM:123150 FGFR2 2263 HP:0000316 Hypertelorism OMIM:123150 FGFR2 2263 HP:0000006 Autosomal dominant inheritance OMIM:123150 FGFR2 2263 HP:0000508 Ptosis OMIM:123150 FGFR2 2263 HP:0000486 Strabismus OMIM:123150 FGFR2 2263 HP:0001363 Craniosynostosis OMIM:123150 FGFR2 2263 HP:0001839 Split foot OMIM:123150 FGFR2 2263 HP:0000174 Abnormality of the palate OMIM:123150 FGFR2 2263 HP:0008080 Hallux varus OMIM:123150 FGFR2 2263 HP:0009773 Symphalangism affecting the phalanges of the hand OMIM:123150 FGFR2 2263 HP:0002991 Abnormality of the fibula OMIM:123150 FGFR2 2263 HP:0000303 Mandibular prognathia OMIM:124060 CYP1A2 1544 HP:0000006 Autosomal dominant inheritance OMIM:124060 CYP1A2 1544 HP:0001939 Abnormality of metabolism/homeostasis OMIM:160900 DMPK 1760 HP:0100543 Cognitive impairment OMIM:160900 DMPK 1760 HP:0002098 Respiratory distress OMIM:160900 DMPK 1760 HP:0002015 Dysphagia OMIM:160900 DMPK 1760 HP:0002292 Frontal balding OMIM:160900 DMPK 1760 HP:0003202 Skeletal muscle atrophy OMIM:160900 DMPK 1760 HP:0002059 Cerebral atrophy OMIM:160900 DMPK 1760 HP:0000006 Autosomal dominant inheritance OMIM:160900 DMPK 1760 HP:0002486 Myotonia OMIM:160900 DMPK 1760 HP:0011705 First degree atrioventricular block OMIM:160900 DMPK 1760 HP:0010935 Abnormality of the upper urinary tract OMIM:160900 DMPK 1760 HP:0000135 Hypogonadism OMIM:160900 DMPK 1760 HP:0002093 Respiratory insufficiency OMIM:160900 DMPK 1760 HP:0010628 Facial palsy OMIM:160900 DMPK 1760 HP:0002189 Excessive daytime sleepiness OMIM:160900 DMPK 1760 HP:0000028 Cryptorchidism OMIM:160900 DMPK 1760 HP:0002564 Malformation of the heart and great vessels OMIM:160900 DMPK 1760 HP:0001558 Decreased fetal movement OMIM:160900 DMPK 1760 HP:0008872 Feeding difficulties in infancy OMIM:160900 DMPK 1760 HP:0004749 Atrial flutter OMIM:160900 DMPK 1760 HP:0003457 EMG abnormality OMIM:160900 DMPK 1760 HP:0000518 Cataract OMIM:160900 DMPK 1760 HP:0008770 Obsessive-compulsive trait OMIM:160900 DMPK 1760 HP:0011362 Abnormal hair quantity OMIM:160900 DMPK 1760 HP:0011675 Arrhythmia OMIM:160900 DMPK 1760 HP:0000238 Hydrocephalus OMIM:160900 DMPK 1760 HP:0000029 Testicular atrophy OMIM:160900 DMPK 1760 HP:0000486 Strabismus OMIM:160900 DMPK 1760 HP:0001276 Hypertonia OMIM:160900 DMPK 1760 HP:0001561 Polyhydramnios OMIM:160900 DMPK 1760 HP:0001081 Cholelithiasis OMIM:160900 DMPK 1760 HP:0100335 Non-midline cleft lip OMIM:160900 DMPK 1760 HP:0010864 Intellectual disability, severe OMIM:160900 DMPK 1760 HP:0005110 Atrial fibrillation OMIM:160900 DMPK 1760 HP:0000818 Abnormality of the endocrine system OMIM:160900 DMPK 1760 HP:0001252 Muscular hypotonia OMIM:160900 DMPK 1760 HP:0001349 Facial diplegia OMIM:160900 DMPK 1760 HP:0006887 Intellectual disability, progressive OMIM:160900 DMPK 1760 HP:0004299 Hernia of the abdominal wall OMIM:160900 DMPK 1760 HP:0003272 Abnormality of the hip bone OMIM:160900 DMPK 1760 HP:0000298 Mask-like facies OMIM:190320 DLX3 1747 HP:0000679 Taurodontia OMIM:190320 DLX3 1747 HP:0000684 Delayed eruption of teeth OMIM:190320 DLX3 1747 HP:0002007 Frontal bossing OMIM:190320 DLX3 1747 HP:0011001 Increased bone mineral density OMIM:190320 DLX3 1747 HP:0000264 Abnormality of the mastoid OMIM:190320 DLX3 1747 HP:0001808 Fragile nails OMIM:190320 DLX3 1747 HP:0011073 Abnormality of dental color OMIM:190320 DLX3 1747 HP:0000311 Round face OMIM:190320 DLX3 1747 HP:0002997 Abnormality of the ulna OMIM:190320 DLX3 1747 HP:0001231 Abnormality of the fingernails OMIM:190320 DLX3 1747 HP:0010620 Malar prominence OMIM:190320 DLX3 1747 HP:0000268 Dolichocephaly OMIM:190320 DLX3 1747 HP:0000691 Microdontia OMIM:190320 DLX3 1747 HP:0000687 Widely spaced teeth OMIM:190320 DLX3 1747 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:190320 DLX3 1747 HP:0000682 Abnormality of dental enamel OMIM:190320 DLX3 1747 HP:0001595 Abnormality of the hair OMIM:190320 DLX3 1747 HP:0002687 Abnormality of the frontal sinuses OMIM:190320 DLX3 1747 HP:0002750 Delayed skeletal maturation OMIM:190320 DLX3 1747 HP:0002224 Woolly hair OMIM:190320 DLX3 1747 HP:0000006 Autosomal dominant inheritance OMIM:190320 DLX3 1747 HP:0004493 Craniofacial hyperostosis OMIM:190320 DLX3 1747 HP:0000670 Carious teeth OMIM:600496 HNF1A 6927 HP:0003593 Infantile onset OMIM:600496 HNF1A 6927 HP:0000006 Autosomal dominant inheritance OMIM:600496 HNF1A 6927 HP:0005978 Type II diabetes mellitus OMIM:600496 HNF1A 6927 HP:0004904 Maturity-onset diabetes of the young OMIM:600496 HNF1A 6927 HP:0003074 Hyperglycemia OMIM:608180 FBLN1 2192 HP:0009702 Carpal synostosis OMIM:608180 FBLN1 2192 HP:0001770 Toe syndactyly OMIM:608180 FBLN1 2192 HP:0008368 Tarsal synostosis OMIM:608180 FBLN1 2192 HP:0000006 Autosomal dominant inheritance OMIM:608180 FBLN1 2192 HP:0001440 Metatarsal synostosis OMIM:608180 FBLN1 2192 HP:0010442 Polydactyly OMIM:608180 FBLN1 2192 HP:0009701 Metacarpal synostosis OMIM:614078 IMPAD1 54928 HP:0001773 Short foot OMIM:614078 IMPAD1 54928 HP:0012368 Flat face OMIM:614078 IMPAD1 54928 HP:0000520 Proptosis OMIM:614078 IMPAD1 54928 HP:0000007 Autosomal recessive inheritance OMIM:614078 IMPAD1 54928 HP:0000431 Wide nasal bridge OMIM:614078 IMPAD1 54928 HP:0001831 Short toe OMIM:614078 IMPAD1 54928 HP:0010049 Short metacarpal OMIM:614078 IMPAD1 54928 HP:0002857 Genu valgum OMIM:614078 IMPAD1 54928 HP:0003196 Short nose OMIM:614078 IMPAD1 54928 HP:0000365 Hearing impairment OMIM:614078 IMPAD1 54928 HP:0002999 Patellar dislocation OMIM:614078 IMPAD1 54928 HP:0001156 Brachydactyly syndrome OMIM:614078 IMPAD1 54928 HP:0000160 Narrow mouth OMIM:614078 IMPAD1 54928 HP:0000348 High forehead OMIM:614078 IMPAD1 54928 HP:0004440 Coronal craniosynostosis OMIM:614078 IMPAD1 54928 HP:0004322 Short stature OMIM:614078 IMPAD1 54928 HP:0000347 Micrognathia OMIM:613424 ACTC1 70 HP:0004308 Ventricular arrhythmia OMIM:613424 ACTC1 70 HP:0001712 Left ventricular hypertrophy OMIM:613424 ACTC1 70 HP:0001644 Dilated cardiomyopathy OMIM:613424 ACTC1 70 HP:0000006 Autosomal dominant inheritance OMIM:613424 ACTC1 70 HP:0001723 Restrictive cardiomyopathy OMIM:613424 ACTC1 70 HP:0001635 Congestive heart failure OMIM:228520 COL11A1 1301 HP:0003375 Narrow greater sacrosciatic notches OMIM:228520 COL11A1 1301 HP:0001800 Hypoplastic toenails OMIM:228520 COL11A1 1301 HP:0000926 Platyspondyly OMIM:228520 COL11A1 1301 HP:0005476 Widely patent sagittal suture OMIM:228520 COL11A1 1301 HP:0000007 Autosomal recessive inheritance OMIM:228520 COL11A1 1301 HP:0001655 Patent foramen ovale OMIM:228520 COL11A1 1301 HP:0005257 Thoracic hypoplasia OMIM:228520 COL11A1 1301 HP:0000470 Short neck OMIM:228520 COL11A1 1301 HP:0000907 Anterior rib cupping OMIM:228520 COL11A1 1301 HP:0000882 Hypoplastic scapulae OMIM:228520 COL11A1 1301 HP:0012385 Camptodactyly OMIM:228520 COL11A1 1301 HP:0000883 Thin ribs OMIM:228520 COL11A1 1301 HP:0002007 Frontal bossing OMIM:228520 COL11A1 1301 HP:0004209 Clinodactyly of the 5th finger OMIM:228520 COL11A1 1301 HP:0000369 Low-set ears OMIM:228520 COL11A1 1301 HP:0003038 Fibular hypoplasia OMIM:228520 COL11A1 1301 HP:0000773 Short ribs OMIM:228520 COL11A1 1301 HP:0009473 Joint contracture of the hand OMIM:228520 COL11A1 1301 HP:0000947 Dumbbell-shaped long bone OMIM:228520 COL11A1 1301 HP:0005622 Broad long bones OMIM:228520 COL11A1 1301 HP:0100865 Broad ischia OMIM:228520 COL11A1 1301 HP:0005442 Widely patent coronal suture OMIM:228520 COL11A1 1301 HP:0008451 Posterior vertebral hypoplasia OMIM:228520 COL11A1 1301 HP:0001539 Omphalocele OMIM:228520 COL11A1 1301 HP:0003175 Hypoplastic ischia OMIM:228520 COL11A1 1301 HP:0001804 Hypoplastic fingernail OMIM:228520 COL11A1 1301 HP:0001538 Protuberant abdomen OMIM:228520 COL11A1 1301 HP:0005280 Depressed nasal bridge OMIM:228520 COL11A1 1301 HP:0003826 Stillbirth OMIM:228520 COL11A1 1301 HP:0000160 Narrow mouth OMIM:228520 COL11A1 1301 HP:0000377 Abnormality of the pinna OMIM:228520 COL11A1 1301 HP:0000890 Long clavicles OMIM:228520 COL11A1 1301 HP:0000272 Malar flattening OMIM:228520 COL11A1 1301 HP:0001773 Short foot OMIM:228520 COL11A1 1301 HP:0000343 Long philtrum OMIM:228520 COL11A1 1301 HP:0006645 Thin clavicles OMIM:228520 COL11A1 1301 HP:0004279 Short palm OMIM:228520 COL11A1 1301 HP:0008905 Rhizomelia OMIM:228520 COL11A1 1301 HP:0003026 Short long bone OMIM:228520 COL11A1 1301 HP:0200055 Small hand OMIM:228520 COL11A1 1301 HP:0003196 Short nose OMIM:228520 COL11A1 1301 HP:0000485 Megalocornea OMIM:228520 COL11A1 1301 HP:0000463 Anteverted nares OMIM:228520 COL11A1 1301 HP:0001789 Hydrops fetalis OMIM:228520 COL11A1 1301 HP:0000922 Posterior rib cupping OMIM:228520 COL11A1 1301 HP:0000175 Cleft palate OMIM:228520 COL11A1 1301 HP:0000260 Wide anterior fontanel OMIM:228520 COL11A1 1301 HP:0000520 Proptosis OMIM:603471 SLC25A13 10165 HP:0001397 Hepatic steatosis OMIM:603471 SLC25A13 10165 HP:0000007 Autosomal recessive inheritance OMIM:603471 SLC25A13 10165 HP:0001733 Pancreatitis OMIM:603471 SLC25A13 10165 HP:0001259 Coma OMIM:603471 SLC25A13 10165 HP:0002181 Cerebral edema OMIM:603471 SLC25A13 10165 HP:0001987 Hyperammonemia OMIM:603471 SLC25A13 10165 HP:0002910 Elevated hepatic transaminases OMIM:603471 SLC25A13 10165 HP:0002155 Hypertriglyceridemia OMIM:603471 SLC25A13 10165 HP:0001402 Hepatocellular carcinoma OMIM:603471 SLC25A13 10165 HP:0001289 Confusion OMIM:604213 GPSM2 29899 HP:0000007 Autosomal recessive inheritance OMIM:604213 GPSM2 29899 HP:0007033 Cerebellar dysplasia OMIM:604213 GPSM2 29899 HP:0001321 Cerebellar hypoplasia OMIM:604213 GPSM2 29899 HP:0002119 Ventriculomegaly OMIM:604213 GPSM2 29899 HP:0001338 Partial agenesis of the corpus callosum OMIM:604213 GPSM2 29899 HP:0000238 Hydrocephalus OMIM:604213 GPSM2 29899 HP:0002126 Polymicrogyria OMIM:604213 GPSM2 29899 HP:0002700 Large foramen magnum OMIM:604213 GPSM2 29899 HP:0100702 Arachnoid cyst OMIM:604213 GPSM2 29899 HP:0001250 Seizures OMIM:604213 GPSM2 29899 HP:0006989 Dysplastic corpus callosum OMIM:604213 GPSM2 29899 HP:0002079 Hypoplasia of the corpus callosum OMIM:604213 GPSM2 29899 HP:0002281 Gray matter heterotopias OMIM:604213 GPSM2 29899 HP:0008625 Severe sensorineural hearing impairment OMIM:604213 GPSM2 29899 HP:0001256 Intellectual disability, mild OMIM:113100 GDF5 8200 HP:0006206 Hypersegmentation of proximal phalanx of second finger OMIM:113100 GDF5 8200 HP:0004322 Short stature OMIM:113100 GDF5 8200 HP:0009523 Triangular epiphysis of the middle phalanx of the 2nd finger OMIM:113100 GDF5 8200 HP:0009461 Short 3rd finger OMIM:113100 GDF5 8200 HP:0000006 Autosomal dominant inheritance OMIM:113100 GDF5 8200 HP:0010579 Cone-shaped epiphysis OMIM:113100 GDF5 8200 HP:0002750 Delayed skeletal maturation OMIM:113100 GDF5 8200 HP:0009331 Triangular epiphysis of the middle phalanx of the 3rd finger OMIM:113100 GDF5 8200 HP:0010259 Cone-shaped epiphyses of the middle phalanges of the hand OMIM:113100 GDF5 8200 HP:0001762 Talipes equinovarus OMIM:113100 GDF5 8200 HP:0004209 Clinodactyly of the 5th finger OMIM:113100 GDF5 8200 HP:0001231 Abnormality of the fingernails OMIM:113100 GDF5 8200 HP:0001883 Talipes OMIM:113100 GDF5 8200 HP:0009349 Enlarged epiphysis of the proximal phalanx of the 3rd finger OMIM:113100 GDF5 8200 HP:0011929 Hypersegmentation of proximal phalanx of third finger OMIM:113100 GDF5 8200 HP:0009575 Triangular shaped middle phalanx of the 2nd finger OMIM:113100 GDF5 8200 HP:0009587 Triangular shaped proximal phalanx of the 2nd finger OMIM:113100 GDF5 8200 HP:0009536 Short 2nd finger OMIM:113100 GDF5 8200 HP:0009465 Ulnar deviation of finger OMIM:113100 GDF5 8200 HP:0001163 Abnormality of the metacarpal bones OMIM:113100 GDF5 8200 HP:0009516 Enlarged epiphysis of the middle phalanx of the 2nd finger OMIM:113100 GDF5 8200 HP:0009464 Ulnar deviation of the 2nd finger OMIM:113100 GDF5 8200 HP:0009417 Pseudoepiphyses of the 3rd finger OMIM:113100 GDF5 8200 HP:0010442 Polydactyly OMIM:113100 GDF5 8200 HP:0009324 Enlarged epiphysis of the middle phalanx of the 3rd finger OMIM:113100 GDF5 8200 HP:0010034 Short 1st metacarpal OMIM:113100 GDF5 8200 HP:0009463 Ulnar deviation of the 3rd finger OMIM:113100 GDF5 8200 HP:0001772 Talipes equinovalgus OMIM:113100 GDF5 8200 HP:0005819 Short middle phalanx of finger OMIM:113100 GDF5 8200 HP:0009356 Triangular epiphysis of the proximal phalanx of the 3rd finger OMIM:113100 GDF5 8200 HP:0009456 Triangular shaped proximal phalanx of the 3rd finger OMIM:113100 GDF5 8200 HP:0009436 Triangular shaped middle phalanx of the 3rd finger OMIM:113100 GDF5 8200 HP:0003067 Madelung deformity OMIM:113100 GDF5 8200 HP:0001156 Brachydactyly syndrome OMIM:113100 GDF5 8200 HP:0001831 Short toe OMIM:113100 GDF5 8200 HP:0009495 Pseudoepiphyses of the 2nd finger OMIM:113100 GDF5 8200 HP:0009527 Enlarged epiphysis of the proximal phalanx of the 2nd finger OMIM:113100 GDF5 8200 HP:0009773 Symphalangism affecting the phalanges of the hand OMIM:113100 GDF5 8200 HP:0009534 Triangular epiphysis of the proximal phalanx of the 2nd finger OMIM:300071 CACNA1F 778 HP:0001417 X-linked inheritance OMIM:300071 CACNA1F 778 HP:0001425 Heterogeneous OMIM:300071 CACNA1F 778 HP:0000505 Visual impairment OMIM:300071 CACNA1F 778 HP:0007642 Congenital stationary night blindness OMIM:614438 PYCR1 5831 HP:0010648 Dermal translucency OMIM:614438 PYCR1 5831 HP:0002987 Elbow flexion contracture OMIM:614438 PYCR1 5831 HP:0000239 Large fontanelles OMIM:614438 PYCR1 5831 HP:0000592 Blue sclerae OMIM:614438 PYCR1 5831 HP:0001087 Congenital glaucoma OMIM:614438 PYCR1 5831 HP:0000581 Blepharophimosis OMIM:614438 PYCR1 5831 HP:0000233 Thin vermilion border OMIM:614438 PYCR1 5831 HP:0001249 Intellectual disability OMIM:614438 PYCR1 5831 HP:0000028 Cryptorchidism OMIM:614438 PYCR1 5831 HP:0011220 Prominent forehead OMIM:614438 PYCR1 5831 HP:0000007 Autosomal recessive inheritance OMIM:614438 PYCR1 5831 HP:0008070 Sparse hair OMIM:614438 PYCR1 5831 HP:0000973 Cutis laxa OMIM:614438 PYCR1 5831 HP:0000963 Thin skin OMIM:614438 PYCR1 5831 HP:0000750 Delayed speech and language development OMIM:614438 PYCR1 5831 HP:0002213 Fine hair OMIM:614438 PYCR1 5831 HP:0000023 Inguinal hernia OMIM:614438 PYCR1 5831 HP:0000358 Posteriorly rotated ears OMIM:614438 PYCR1 5831 HP:0000418 Narrow nasal ridge OMIM:614438 PYCR1 5831 HP:0000316 Hypertelorism OMIM:614438 PYCR1 5831 HP:0007392 Excessive wrinkled skin OMIM:612702 FGF8 2253 HP:0000006 Autosomal dominant inheritance OMIM:612702 FGF8 2253 HP:0000458 Anosmia OMIM:612702 FGF8 2253 HP:0000044 Hypogonadotrophic hypogonadism OMIM:269150 SETBP1 26040 HP:0008897 Postnatal growth retardation OMIM:269150 SETBP1 26040 HP:0001795 Hyperconvex nail OMIM:269150 SETBP1 26040 HP:0002650 Scoliosis OMIM:269150 SETBP1 26040 HP:0002521 Hypsarrhythmia OMIM:269150 SETBP1 26040 HP:0009882 Short distal phalanx of finger OMIM:269150 SETBP1 26040 HP:0002557 Hypoplastic nipples OMIM:269150 SETBP1 26040 HP:0001161 Hand polydactyly OMIM:269150 SETBP1 26040 HP:0001561 Polyhydramnios OMIM:269150 SETBP1 26040 HP:0002079 Hypoplasia of the corpus callosum OMIM:269150 SETBP1 26040 HP:0002119 Ventriculomegaly OMIM:269150 SETBP1 26040 HP:0000407 Sensorineural hearing impairment OMIM:269150 SETBP1 26040 HP:0000648 Optic atrophy OMIM:269150 SETBP1 26040 HP:0006487 Bowing of the long bones OMIM:269150 SETBP1 26040 HP:0002179 Opisthotonus OMIM:269150 SETBP1 26040 HP:0006387 Wide distal femoral metaphysis OMIM:269150 SETBP1 26040 HP:0003196 Short nose OMIM:269150 SETBP1 26040 HP:0002564 Malformation of the heart and great vessels OMIM:269150 SETBP1 26040 HP:0000347 Micrognathia OMIM:269150 SETBP1 26040 HP:0002983 Micromelia OMIM:269150 SETBP1 26040 HP:0011800 Midface retrusion OMIM:269150 SETBP1 26040 HP:0000059 Hypoplastic labia majora OMIM:269150 SETBP1 26040 HP:0000474 Thickened nuchal skin fold OMIM:269150 SETBP1 26040 HP:0007759 Opacification of the corneal stroma OMIM:269150 SETBP1 26040 HP:0006657 Hypoplasia of first ribs OMIM:269150 SETBP1 26040 HP:0000055 Abnormality of female external genitalia OMIM:269150 SETBP1 26040 HP:0001508 Failure to thrive OMIM:269150 SETBP1 26040 HP:0000047 Hypospadias OMIM:269150 SETBP1 26040 HP:0001601 Laryngomalacia OMIM:269150 SETBP1 26040 HP:0000470 Short neck OMIM:269150 SETBP1 26040 HP:0000028 Cryptorchidism OMIM:269150 SETBP1 26040 HP:0000280 Coarse facial features OMIM:269150 SETBP1 26040 HP:0000064 Hypoplastic labia minora OMIM:269150 SETBP1 26040 HP:0000340 Sloping forehead OMIM:269150 SETBP1 26040 HP:0001252 Muscular hypotonia OMIM:269150 SETBP1 26040 HP:0001276 Hypertonia OMIM:269150 SETBP1 26040 HP:0001773 Short foot OMIM:269150 SETBP1 26040 HP:0002974 Radioulnar synostosis OMIM:269150 SETBP1 26040 HP:0000377 Abnormality of the pinna OMIM:269150 SETBP1 26040 HP:0004492 Widely patent fontanelles and sutures OMIM:269150 SETBP1 26040 HP:0000879 Short sternum OMIM:269150 SETBP1 26040 HP:0000890 Long clavicles OMIM:269150 SETBP1 26040 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:269150 SETBP1 26040 HP:0000889 Abnormality of the clavicle OMIM:269150 SETBP1 26040 HP:0100490 Camptodactyly of finger OMIM:269150 SETBP1 26040 HP:0000071 Ureteral stenosis OMIM:269150 SETBP1 26040 HP:0002884 Hepatoblastoma OMIM:269150 SETBP1 26040 HP:0001838 Rocker bottom foot OMIM:269150 SETBP1 26040 HP:0000046 Scrotal hypoplasia OMIM:269150 SETBP1 26040 HP:0001739 Abnormality of the nasopharynx OMIM:269150 SETBP1 26040 HP:0000935 Thickened cortex of long bones OMIM:269150 SETBP1 26040 HP:0002059 Cerebral atrophy OMIM:269150 SETBP1 26040 HP:0005280 Depressed nasal bridge OMIM:269150 SETBP1 26040 HP:0004299 Hernia of the abdominal wall OMIM:269150 SETBP1 26040 HP:0000252 Microcephaly OMIM:269150 SETBP1 26040 HP:0000072 Hydroureter OMIM:269150 SETBP1 26040 HP:0000998 Hypertrichosis OMIM:269150 SETBP1 26040 HP:0005495 Metopic suture patent to nasal root OMIM:269150 SETBP1 26040 HP:0000505 Visual impairment OMIM:269150 SETBP1 26040 HP:0000006 Autosomal dominant inheritance OMIM:269150 SETBP1 26040 HP:0001162 Postaxial hand polydactyly OMIM:269150 SETBP1 26040 HP:0001762 Talipes equinovarus OMIM:269150 SETBP1 26040 HP:0000368 Low-set, posteriorly rotated ears OMIM:269150 SETBP1 26040 HP:0003103 Abnormal cortical bone morphology OMIM:269150 SETBP1 26040 HP:0000520 Proptosis OMIM:269150 SETBP1 26040 HP:0009104 Aplasia/Hypoplasia of the pubic bone OMIM:269150 SETBP1 26040 HP:0000054 Micropenis OMIM:269150 SETBP1 26040 HP:0000348 High forehead OMIM:269150 SETBP1 26040 HP:0010034 Short 1st metacarpal OMIM:269150 SETBP1 26040 HP:0004279 Short palm OMIM:269150 SETBP1 26040 HP:0000486 Strabismus OMIM:269150 SETBP1 26040 HP:0000452 Choanal stenosis OMIM:269150 SETBP1 26040 HP:0000316 Hypertelorism OMIM:269150 SETBP1 26040 HP:0002645 Wormian bones OMIM:269150 SETBP1 26040 HP:0001231 Abnormality of the fingernails OMIM:269150 SETBP1 26040 HP:0000272 Malar flattening OMIM:269150 SETBP1 26040 HP:0100539 Periorbital edema OMIM:269150 SETBP1 26040 HP:0000813 Bicornuate uterus OMIM:269150 SETBP1 26040 HP:0004348 Abnormality of bone mineral density OMIM:269150 SETBP1 26040 HP:0000453 Choanal atresia OMIM:269150 SETBP1 26040 HP:0000482 Microcornea OMIM:269150 SETBP1 26040 HP:0009792 Teratoma OMIM:269150 SETBP1 26040 HP:0000157 Abnormality of the tongue OMIM:269150 SETBP1 26040 HP:0100581 Megacalicosis OMIM:269150 SETBP1 26040 HP:0000821 Hypothyroidism OMIM:269150 SETBP1 26040 HP:0000522 Alacrima OMIM:269150 SETBP1 26040 HP:0000126 Hydronephrosis OMIM:269150 SETBP1 26040 HP:0000341 Narrow forehead OMIM:269150 SETBP1 26040 HP:0001631 Defect in the atrial septum OMIM:269150 SETBP1 26040 HP:0004331 Decreased skull ossification OMIM:269150 SETBP1 26040 HP:0001250 Seizures OMIM:269150 SETBP1 26040 HP:0008736 Hypoplasia of penis OMIM:269150 SETBP1 26040 HP:0001163 Abnormality of the metacarpal bones OMIM:269150 SETBP1 26040 HP:0000158 Macroglossia OMIM:269150 SETBP1 26040 HP:0009793 Presacral teratoma OMIM:269150 SETBP1 26040 HP:0002694 Sclerosis of skull base OMIM:269150 SETBP1 26040 HP:0002007 Frontal bossing OMIM:269150 SETBP1 26040 HP:0011220 Prominent forehead OMIM:269150 SETBP1 26040 HP:0001883 Talipes OMIM:269150 SETBP1 26040 HP:0000954 Single transverse palmar crease OMIM:269150 SETBP1 26040 HP:0000885 Broad ribs OMIM:269150 SETBP1 26040 HP:0000463 Anteverted nares OMIM:269150 SETBP1 26040 HP:0100627 Displacement of the external urethral meatus OMIM:269150 SETBP1 26040 HP:0000076 Vesicoureteral reflux OMIM:269150 SETBP1 26040 HP:0100543 Cognitive impairment OMIM:269150 SETBP1 26040 HP:0000586 Shallow orbits OMIM:269150 SETBP1 26040 HP:0000772 Abnormality of the ribs OMIM:269150 SETBP1 26040 HP:0000369 Low-set ears OMIM:269150 SETBP1 26040 HP:0002982 Tibial bowing OMIM:269150 SETBP1 26040 HP:0006392 Increased density of long bones OMIM:269150 SETBP1 26040 HP:0000329 Facial hemangioma OMIM:269150 SETBP1 26040 HP:0001249 Intellectual disability OMIM:254210 CHAT 1103 HP:0003577 Congenital onset OMIM:254210 CHAT 1103 HP:0003554 Type 2 muscle fiber atrophy OMIM:254210 CHAT 1103 HP:0003397 Generalized hypotonia due to defect at the neuromuscular junction OMIM:254210 CHAT 1103 HP:0000007 Autosomal recessive inheritance OMIM:254210 CHAT 1103 HP:0002715 Abnormality of the immune system OMIM:254210 CHAT 1103 HP:0002804 Arthrogryposis multiplex congenita OMIM:254210 CHAT 1103 HP:0002872 Apneic episodes precipitated by illness, fatigue, stress OMIM:254210 CHAT 1103 HP:0003403 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation OMIM:254210 CHAT 1103 HP:0002882 Sudden episodic apnea OMIM:254210 CHAT 1103 HP:0000486 Strabismus OMIM:254210 CHAT 1103 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:254210 CHAT 1103 HP:0003402 Decreased miniature endplate potentials OMIM:254210 CHAT 1103 HP:0003473 Fatigable weakness OMIM:254210 CHAT 1103 HP:0002015 Dysphagia OMIM:254210 CHAT 1103 HP:0001283 Bulbar palsy OMIM:254210 CHAT 1103 HP:0000508 Ptosis OMIM:254210 CHAT 1103 HP:0000597 Ophthalmoparesis OMIM:254210 CHAT 1103 HP:0002033 Poor suck OMIM:254210 CHAT 1103 HP:0001612 Weak cry OMIM:254210 CHAT 1103 HP:0002098 Respiratory distress OMIM:614436 LRSAM1 90678 HP:0009027 Foot dorsiflexor weakness OMIM:614436 LRSAM1 90678 HP:0002460 Distal muscle weakness OMIM:614436 LRSAM1 90678 HP:0006886 Impaired distal vibration sensation OMIM:614436 LRSAM1 90678 HP:0000764 Peripheral axonal degeneration OMIM:614436 LRSAM1 90678 HP:0002936 Distal sensory impairment OMIM:614436 LRSAM1 90678 HP:0000006 Autosomal dominant inheritance OMIM:614436 LRSAM1 90678 HP:0003677 Slow progression OMIM:614436 LRSAM1 90678 HP:0003693 Distal amyotrophy OMIM:614436 LRSAM1 90678 HP:0002380 Fasciculations OMIM:614436 LRSAM1 90678 HP:0001265 Hyporeflexia OMIM:614436 LRSAM1 90678 HP:0000007 Autosomal recessive inheritance OMIM:614436 LRSAM1 90678 HP:0001284 Areflexia OMIM:614436 LRSAM1 90678 HP:0001761 Pes cavus OMIM:614436 LRSAM1 90678 HP:0001765 Hammertoe OMIM:211750 CD96 10225 HP:0010049 Short metacarpal OMIM:211750 CD96 10225 HP:0009466 Radial deviation of finger OMIM:211750 CD96 10225 HP:0003196 Short nose OMIM:211750 CD96 10225 HP:0000954 Single transverse palmar crease OMIM:211750 CD96 10225 HP:0100589 Urogenital fistula OMIM:211750 CD96 10225 HP:0001830 Postaxial foot polydactyly OMIM:211750 CD96 10225 HP:0000470 Short neck OMIM:211750 CD96 10225 HP:0001770 Toe syndactyly OMIM:211750 CD96 10225 HP:0001250 Seizures OMIM:211750 CD96 10225 HP:0000057 Clitoromegaly OMIM:211750 CD96 10225 HP:0000486 Strabismus OMIM:211750 CD96 10225 HP:0000582 Upslanted palpebral fissure OMIM:211750 CD96 10225 HP:0000803 Renal cortical cysts OMIM:211750 CD96 10225 HP:0002983 Micromelia OMIM:211750 CD96 10225 HP:0000007 Autosomal recessive inheritance OMIM:211750 CD96 10225 HP:0000243 Trigonocephaly OMIM:211750 CD96 10225 HP:0001376 Limitation of joint mobility OMIM:211750 CD96 10225 HP:0001643 Patent ductus arteriosus OMIM:211750 CD96 10225 HP:0001162 Postaxial hand polydactyly OMIM:211750 CD96 10225 HP:0002827 Hip dislocation OMIM:211750 CD96 10225 HP:0000212 Gingival overgrowth OMIM:211750 CD96 10225 HP:0000776 Congenital diaphragmatic hernia OMIM:211750 CD96 10225 HP:0000973 Cutis laxa OMIM:211750 CD96 10225 HP:0002750 Delayed skeletal maturation OMIM:211750 CD96 10225 HP:0000218 High palate OMIM:211750 CD96 10225 HP:0001252 Muscular hypotonia OMIM:211750 CD96 10225 HP:0000003 Multicystic kidney dysplasia OMIM:211750 CD96 10225 HP:0004322 Short stature OMIM:211750 CD96 10225 HP:0000028 Cryptorchidism OMIM:211750 CD96 10225 HP:0000233 Thin vermilion border OMIM:211750 CD96 10225 HP:0000252 Microcephaly OMIM:211750 CD96 10225 HP:0030084 Clinodactyly OMIM:211750 CD96 10225 HP:0001508 Failure to thrive OMIM:211750 CD96 10225 HP:0000368 Low-set, posteriorly rotated ears OMIM:211750 CD96 10225 HP:0001561 Polyhydramnios OMIM:211750 CD96 10225 HP:0000191 Accessory oral frenulum OMIM:211750 CD96 10225 HP:0001161 Hand polydactyly OMIM:211750 CD96 10225 HP:0008678 Renal hypoplasia/aplasia OMIM:211750 CD96 10225 HP:0001883 Talipes OMIM:211750 CD96 10225 HP:0004209 Clinodactyly of the 5th finger OMIM:211750 CD96 10225 HP:0000343 Long philtrum OMIM:211750 CD96 10225 HP:0000286 Epicanthus OMIM:211750 CD96 10225 HP:0000767 Pectus excavatum OMIM:211750 CD96 10225 HP:0100542 Abnormal localization of kidney OMIM:211750 CD96 10225 HP:0006643 Fused sternal ossification centers OMIM:211750 CD96 10225 HP:0000358 Posteriorly rotated ears OMIM:211750 CD96 10225 HP:0009100 Thick anterior alveolar ridges OMIM:211750 CD96 10225 HP:0010978 Abnormality of immune system physiology OMIM:211750 CD96 10225 HP:0000960 Sacral dimple OMIM:211750 CD96 10225 HP:0001539 Omphalocele OMIM:211750 CD96 10225 HP:0000341 Narrow forehead OMIM:211750 CD96 10225 HP:0000154 Wide mouth OMIM:211750 CD96 10225 HP:0009465 Ulnar deviation of finger OMIM:211750 CD96 10225 HP:0000431 Wide nasal bridge OMIM:211750 CD96 10225 HP:0001373 Joint dislocation OMIM:211750 CD96 10225 HP:0100720 Hypoplasia of the ear cartilage OMIM:211750 CD96 10225 HP:0000347 Micrognathia OMIM:211750 CD96 10225 HP:0005280 Depressed nasal bridge OMIM:211750 CD96 10225 HP:0010458 Female pseudohermaphroditism OMIM:211750 CD96 10225 HP:0000463 Anteverted nares OMIM:211750 CD96 10225 HP:0002240 Hepatomegaly OMIM:211750 CD96 10225 HP:0001629 Ventricular septal defect OMIM:211750 CD96 10225 HP:0000369 Low-set ears OMIM:211750 CD96 10225 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature OMIM:211750 CD96 10225 HP:0000175 Cleft palate OMIM:211750 CD96 10225 HP:0001263 Global developmental delay OMIM:211750 CD96 10225 HP:0100543 Cognitive impairment OMIM:211750 CD96 10225 HP:0002564 Malformation of the heart and great vessels OMIM:211750 CD96 10225 HP:0002650 Scoliosis OMIM:211750 CD96 10225 HP:0002019 Constipation OMIM:211750 CD96 10225 HP:0003083 Dislocated radial head OMIM:211750 CD96 10225 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:210900 BLM 641 HP:0007400 Irregular hyperpigmentation OMIM:210900 BLM 641 HP:0000448 Prominent nose OMIM:210900 BLM 641 HP:0001620 High pitched voice OMIM:210900 BLM 641 HP:0008064 Ichthyosis OMIM:210900 BLM 641 HP:0002665 Lymphoma OMIM:210900 BLM 641 HP:0000027 Azoospermia OMIM:210900 BLM 641 HP:0000975 Hyperhidrosis OMIM:210900 BLM 641 HP:0001909 Leukemia OMIM:210900 BLM 641 HP:0005585 Spotty hyperpigmentation OMIM:210900 BLM 641 HP:0003196 Short nose OMIM:210900 BLM 641 HP:0005598 Facial telangiectasia in butterfly midface distribution OMIM:210900 BLM 641 HP:0001161 Hand polydactyly OMIM:210900 BLM 641 HP:0000007 Autosomal recessive inheritance OMIM:210900 BLM 641 HP:0000868 Decreased fertility in females OMIM:210900 BLM 641 HP:0009804 Reduced number of teeth OMIM:210900 BLM 641 HP:0000268 Dolichocephaly OMIM:210900 BLM 641 HP:0000690 Agenesis of maxillary lateral incisor OMIM:210900 BLM 641 HP:0100543 Cognitive impairment OMIM:210900 BLM 641 HP:0006528 Chronic lung disease OMIM:210900 BLM 641 HP:0002750 Delayed skeletal maturation OMIM:210900 BLM 641 HP:0004322 Short stature OMIM:210900 BLM 641 HP:0000998 Hypertrichosis OMIM:210900 BLM 641 HP:0002720 IgA deficiency OMIM:210900 BLM 641 HP:0000252 Microcephaly OMIM:210900 BLM 641 HP:0002014 Diarrhea OMIM:210900 BLM 641 HP:0001511 Intrauterine growth retardation OMIM:210900 BLM 641 HP:0000272 Malar flattening OMIM:210900 BLM 641 HP:0000246 Sinusitis OMIM:210900 BLM 641 HP:0000275 Narrow face OMIM:210900 BLM 641 HP:0001256 Intellectual disability, mild OMIM:210900 BLM 641 HP:0008069 Neoplasm of the skin OMIM:210900 BLM 641 HP:0000144 Decreased fertility OMIM:210900 BLM 641 HP:0003220 Abnormality of chromosome stability OMIM:210900 BLM 641 HP:0000347 Micrognathia OMIM:210900 BLM 641 HP:0005590 Spotty hypopigmentation OMIM:210900 BLM 641 HP:0008897 Postnatal growth retardation OMIM:210900 BLM 641 HP:0000992 Cutaneous photosensitivity OMIM:210900 BLM 641 HP:0002860 Squamous cell carcinoma OMIM:210900 BLM 641 HP:0010669 Cheekbone underdevelopment OMIM:210900 BLM 641 HP:0000028 Cryptorchidism OMIM:210900 BLM 641 HP:0000957 Cafe-au-lait spot OMIM:210900 BLM 641 HP:0002488 Acute leukemia OMIM:210900 BLM 641 HP:0005978 Type II diabetes mellitus OMIM:210900 BLM 641 HP:0001053 Hypopigmented skin patches OMIM:210900 BLM 641 HP:0002205 Recurrent respiratory infections OMIM:210900 BLM 641 HP:0002110 Bronchiectasis OMIM:210900 BLM 641 HP:0002850 IgM deficiency OMIM:210900 BLM 641 HP:0004209 Clinodactyly of the 5th finger OMIM:210900 BLM 641 HP:0000377 Abnormality of the pinna OMIM:210900 BLM 641 HP:0100585 Teleangiectasia of the skin OMIM:210900 BLM 641 HP:0007378 Neoplasm of the gastrointestinal tract OMIM:210900 BLM 641 HP:0000960 Sacral dimple OMIM:210900 BLM 641 HP:0000411 Protruding ear OMIM:210900 BLM 641 HP:0001328 Specific learning disability OMIM:210900 BLM 641 HP:0006101 Finger syndactyly OMIM:210900 BLM 641 HP:0001159 Syndactyly OMIM:210900 BLM 641 HP:0004315 IgG deficiency OMIM:215045 PTH1R 5745 HP:0006288 Advanced eruption of teeth OMIM:215045 PTH1R 5745 HP:0005789 Generalized osteosclerosis OMIM:215045 PTH1R 5745 HP:0000157 Abnormality of the tongue OMIM:215045 PTH1R 5745 HP:0000463 Anteverted nares OMIM:215045 PTH1R 5745 HP:0001561 Polyhydramnios OMIM:215045 PTH1R 5745 HP:0000368 Low-set, posteriorly rotated ears OMIM:215045 PTH1R 5745 HP:0001622 Premature birth OMIM:215045 PTH1R 5745 HP:0003826 Stillbirth OMIM:215045 PTH1R 5745 HP:0006487 Bowing of the long bones OMIM:215045 PTH1R 5745 HP:0008108 Advanced tarsal ossification OMIM:215045 PTH1R 5745 HP:0001789 Hydrops fetalis OMIM:215045 PTH1R 5745 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:215045 PTH1R 5745 HP:0000889 Abnormality of the clavicle OMIM:215045 PTH1R 5745 HP:0003015 Flared metaphysis OMIM:215045 PTH1R 5745 HP:0001163 Abnormality of the metacarpal bones OMIM:215045 PTH1R 5745 HP:0000347 Micrognathia OMIM:215045 PTH1R 5745 HP:0004233 Advanced ossification of carpal bones OMIM:215045 PTH1R 5745 HP:0000007 Autosomal recessive inheritance OMIM:215045 PTH1R 5745 HP:0009924 Aplasia/Hypoplasia involving the nose OMIM:215045 PTH1R 5745 HP:0005616 Accelerated skeletal maturation OMIM:215045 PTH1R 5745 HP:0003177 Squared iliac bones OMIM:215045 PTH1R 5745 HP:0005280 Depressed nasal bridge OMIM:215045 PTH1R 5745 HP:0000272 Malar flattening OMIM:215045 PTH1R 5745 HP:0002983 Micromelia OMIM:215045 PTH1R 5745 HP:0000518 Cataract OMIM:215045 PTH1R 5745 HP:0010306 Short thorax OMIM:215045 PTH1R 5745 HP:0000773 Short ribs OMIM:215045 PTH1R 5745 HP:0008754 Laryngeal calcification OMIM:215045 PTH1R 5745 HP:0000520 Proptosis OMIM:215045 PTH1R 5745 HP:0100240 Synostosis of joints OMIM:215045 PTH1R 5745 HP:0005930 Abnormality of epiphysis morphology OMIM:215045 PTH1R 5745 HP:0004322 Short stature OMIM:215045 PTH1R 5745 HP:0000774 Narrow chest OMIM:215045 PTH1R 5745 HP:0003312 Abnormal form of the vertebral bodies OMIM:215045 PTH1R 5745 HP:0000343 Long philtrum OMIM:163200 HRAS 3265 HP:0000324 Facial asymmetry OMIM:163200 HRAS 3265 HP:0011362 Abnormal hair quantity OMIM:163200 HRAS 3265 HP:0001250 Seizures OMIM:163200 HRAS 3265 HP:0003745 Sporadic OMIM:163200 HRAS 3265 HP:0002757 Recurrent fractures OMIM:163200 HRAS 3265 HP:0001249 Intellectual disability OMIM:163200 HRAS 3265 HP:0001167 Abnormality of finger OMIM:163200 HRAS 3265 HP:0002816 Genu recurvatum OMIM:163200 HRAS 3265 HP:0000612 Iris coloboma OMIM:163200 HRAS 3265 HP:0004912 Hypophosphatemic rickets OMIM:163200 HRAS 3265 HP:0002751 Kyphoscoliosis OMIM:163200 HRAS 3265 HP:0001252 Muscular hypotonia OMIM:163200 HRAS 3265 HP:0000589 Coloboma OMIM:163200 HRAS 3265 HP:0001357 Plagiocephaly OMIM:163200 HRAS 3265 HP:0000995 Melanocytic nevus OMIM:163200 HRAS 3265 HP:0007957 Corneal opacity OMIM:163200 HRAS 3265 HP:0001048 Cavernous hemangioma OMIM:163200 HRAS 3265 HP:0001548 Overgrowth OMIM:163200 HRAS 3265 HP:0000267 Cranial asymmetry OMIM:163200 HRAS 3265 HP:0000269 Prominent occiput OMIM:163200 HRAS 3265 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:163200 HRAS 3265 HP:0010815 Nevus sebaceous OMIM:163200 HRAS 3265 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:163200 HRAS 3265 HP:0001305 Dandy-Walker malformation OMIM:163200 HRAS 3265 HP:0000506 Telecanthus OMIM:163200 HRAS 3265 HP:0002132 Porencephaly OMIM:163200 HRAS 3265 HP:0001596 Alopecia OMIM:163200 HRAS 3265 HP:0100543 Cognitive impairment OMIM:163200 HRAS 3265 HP:0008064 Ichthyosis OMIM:163200 HRAS 3265 HP:0001442 Somatic mosaicism OMIM:163200 HRAS 3265 HP:0000602 Ophthalmoplegia OMIM:163200 HRAS 3265 HP:0007206 Hemimegalencephaly OMIM:163200 HRAS 3265 HP:0001315 Reduced tendon reflexes OMIM:163200 HRAS 3265 HP:0002671 Basal cell carcinoma OMIM:163200 HRAS 3265 HP:0001028 Hemangioma OMIM:163200 HRAS 3265 HP:0003422 Vertebral segmentation defect OMIM:163200 HRAS 3265 HP:0004322 Short stature OMIM:163200 HRAS 3265 HP:0000085 Horseshoe kidney OMIM:163200 HRAS 3265 HP:0000826 Precocious puberty OMIM:163200 HRAS 3265 HP:0000341 Narrow forehead OMIM:163200 HRAS 3265 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:163200 HRAS 3265 HP:0006482 Abnormality of dental morphology OMIM:163200 HRAS 3265 HP:0003109 Hyperphosphaturia OMIM:163200 HRAS 3265 HP:0000938 Osteopenia OMIM:163200 HRAS 3265 HP:0002514 Cerebral calcification OMIM:163200 HRAS 3265 HP:0002353 EEG abnormality OMIM:163200 HRAS 3265 HP:0009720 Adenoma sebaceum OMIM:163200 HRAS 3265 HP:0001010 Hypopigmentation of the skin OMIM:163200 HRAS 3265 HP:0002007 Frontal bossing OMIM:163200 HRAS 3265 HP:0011073 Abnormality of dental color OMIM:163200 HRAS 3265 HP:0001680 Coarctation of aorta OMIM:163200 HRAS 3265 HP:0100555 Asymmetric growth OMIM:163200 HRAS 3265 HP:0001780 Abnormality of toe OMIM:163200 HRAS 3265 HP:0007400 Irregular hyperpigmentation OMIM:163200 HRAS 3265 HP:0001347 Hyperreflexia OMIM:163200 KRAS 3845 HP:0000324 Facial asymmetry OMIM:163200 KRAS 3845 HP:0011362 Abnormal hair quantity OMIM:163200 KRAS 3845 HP:0001250 Seizures OMIM:163200 KRAS 3845 HP:0003745 Sporadic OMIM:163200 KRAS 3845 HP:0002757 Recurrent fractures OMIM:163200 KRAS 3845 HP:0001249 Intellectual disability OMIM:163200 KRAS 3845 HP:0001167 Abnormality of finger OMIM:163200 KRAS 3845 HP:0002816 Genu recurvatum OMIM:163200 KRAS 3845 HP:0000612 Iris coloboma OMIM:163200 KRAS 3845 HP:0004912 Hypophosphatemic rickets OMIM:163200 KRAS 3845 HP:0002751 Kyphoscoliosis OMIM:163200 KRAS 3845 HP:0001252 Muscular hypotonia OMIM:163200 KRAS 3845 HP:0000589 Coloboma OMIM:163200 KRAS 3845 HP:0001357 Plagiocephaly OMIM:163200 KRAS 3845 HP:0000995 Melanocytic nevus OMIM:163200 KRAS 3845 HP:0007957 Corneal opacity OMIM:163200 KRAS 3845 HP:0001048 Cavernous hemangioma OMIM:163200 KRAS 3845 HP:0001548 Overgrowth OMIM:163200 KRAS 3845 HP:0000267 Cranial asymmetry OMIM:163200 KRAS 3845 HP:0000269 Prominent occiput OMIM:163200 KRAS 3845 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:163200 KRAS 3845 HP:0010815 Nevus sebaceous OMIM:163200 KRAS 3845 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:163200 KRAS 3845 HP:0001305 Dandy-Walker malformation OMIM:163200 KRAS 3845 HP:0000506 Telecanthus OMIM:163200 KRAS 3845 HP:0002132 Porencephaly OMIM:163200 KRAS 3845 HP:0001596 Alopecia OMIM:163200 KRAS 3845 HP:0100543 Cognitive impairment OMIM:163200 KRAS 3845 HP:0008064 Ichthyosis OMIM:163200 KRAS 3845 HP:0001442 Somatic mosaicism OMIM:163200 KRAS 3845 HP:0000602 Ophthalmoplegia OMIM:163200 KRAS 3845 HP:0007206 Hemimegalencephaly OMIM:163200 KRAS 3845 HP:0001315 Reduced tendon reflexes OMIM:163200 KRAS 3845 HP:0002671 Basal cell carcinoma OMIM:163200 KRAS 3845 HP:0001028 Hemangioma OMIM:163200 KRAS 3845 HP:0003422 Vertebral segmentation defect OMIM:163200 KRAS 3845 HP:0004322 Short stature OMIM:163200 KRAS 3845 HP:0000085 Horseshoe kidney OMIM:163200 KRAS 3845 HP:0000826 Precocious puberty OMIM:163200 KRAS 3845 HP:0000341 Narrow forehead OMIM:163200 KRAS 3845 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:163200 KRAS 3845 HP:0006482 Abnormality of dental morphology OMIM:163200 KRAS 3845 HP:0003109 Hyperphosphaturia OMIM:163200 KRAS 3845 HP:0000938 Osteopenia OMIM:163200 KRAS 3845 HP:0002514 Cerebral calcification OMIM:163200 KRAS 3845 HP:0002353 EEG abnormality OMIM:163200 KRAS 3845 HP:0009720 Adenoma sebaceum OMIM:163200 KRAS 3845 HP:0001010 Hypopigmentation of the skin OMIM:163200 KRAS 3845 HP:0002007 Frontal bossing OMIM:163200 KRAS 3845 HP:0011073 Abnormality of dental color OMIM:163200 KRAS 3845 HP:0001680 Coarctation of aorta OMIM:163200 KRAS 3845 HP:0100555 Asymmetric growth OMIM:163200 KRAS 3845 HP:0001780 Abnormality of toe OMIM:163200 KRAS 3845 HP:0007400 Irregular hyperpigmentation OMIM:163200 KRAS 3845 HP:0001347 Hyperreflexia OMIM:163200 NRAS 4893 HP:0000324 Facial asymmetry OMIM:163200 NRAS 4893 HP:0011362 Abnormal hair quantity OMIM:163200 NRAS 4893 HP:0001250 Seizures OMIM:163200 NRAS 4893 HP:0003745 Sporadic OMIM:163200 NRAS 4893 HP:0002757 Recurrent fractures OMIM:163200 NRAS 4893 HP:0001249 Intellectual disability OMIM:163200 NRAS 4893 HP:0001167 Abnormality of finger OMIM:163200 NRAS 4893 HP:0002816 Genu recurvatum OMIM:163200 NRAS 4893 HP:0000612 Iris coloboma OMIM:163200 NRAS 4893 HP:0004912 Hypophosphatemic rickets OMIM:163200 NRAS 4893 HP:0002751 Kyphoscoliosis OMIM:163200 NRAS 4893 HP:0001252 Muscular hypotonia OMIM:163200 NRAS 4893 HP:0000589 Coloboma OMIM:163200 NRAS 4893 HP:0001357 Plagiocephaly OMIM:163200 NRAS 4893 HP:0000995 Melanocytic nevus OMIM:163200 NRAS 4893 HP:0007957 Corneal opacity OMIM:163200 NRAS 4893 HP:0001048 Cavernous hemangioma OMIM:163200 NRAS 4893 HP:0001548 Overgrowth OMIM:163200 NRAS 4893 HP:0000267 Cranial asymmetry OMIM:163200 NRAS 4893 HP:0000269 Prominent occiput OMIM:163200 NRAS 4893 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:163200 NRAS 4893 HP:0010815 Nevus sebaceous OMIM:163200 NRAS 4893 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:163200 NRAS 4893 HP:0001305 Dandy-Walker malformation OMIM:163200 NRAS 4893 HP:0000506 Telecanthus OMIM:163200 NRAS 4893 HP:0002132 Porencephaly OMIM:163200 NRAS 4893 HP:0001596 Alopecia OMIM:163200 NRAS 4893 HP:0100543 Cognitive impairment OMIM:163200 NRAS 4893 HP:0008064 Ichthyosis OMIM:163200 NRAS 4893 HP:0001442 Somatic mosaicism OMIM:163200 NRAS 4893 HP:0000602 Ophthalmoplegia OMIM:163200 NRAS 4893 HP:0007206 Hemimegalencephaly OMIM:163200 NRAS 4893 HP:0001315 Reduced tendon reflexes OMIM:163200 NRAS 4893 HP:0002671 Basal cell carcinoma OMIM:163200 NRAS 4893 HP:0001028 Hemangioma OMIM:163200 NRAS 4893 HP:0003422 Vertebral segmentation defect OMIM:163200 NRAS 4893 HP:0004322 Short stature OMIM:163200 NRAS 4893 HP:0000085 Horseshoe kidney OMIM:163200 NRAS 4893 HP:0000826 Precocious puberty OMIM:163200 NRAS 4893 HP:0000341 Narrow forehead OMIM:163200 NRAS 4893 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:163200 NRAS 4893 HP:0006482 Abnormality of dental morphology OMIM:163200 NRAS 4893 HP:0003109 Hyperphosphaturia OMIM:163200 NRAS 4893 HP:0000938 Osteopenia OMIM:163200 NRAS 4893 HP:0002514 Cerebral calcification OMIM:163200 NRAS 4893 HP:0002353 EEG abnormality OMIM:163200 NRAS 4893 HP:0009720 Adenoma sebaceum OMIM:163200 NRAS 4893 HP:0001010 Hypopigmentation of the skin OMIM:163200 NRAS 4893 HP:0002007 Frontal bossing OMIM:163200 NRAS 4893 HP:0011073 Abnormality of dental color OMIM:163200 NRAS 4893 HP:0001680 Coarctation of aorta OMIM:163200 NRAS 4893 HP:0100555 Asymmetric growth OMIM:163200 NRAS 4893 HP:0001780 Abnormality of toe OMIM:163200 NRAS 4893 HP:0007400 Irregular hyperpigmentation OMIM:163200 NRAS 4893 HP:0001347 Hyperreflexia OMIM:604356 CHN1 1123 HP:0000646 Amblyopia OMIM:604356 CHN1 1123 HP:0009921 Duane anomaly OMIM:604356 CHN1 1123 HP:0000486 Strabismus OMIM:604356 CHN1 1123 HP:0000006 Autosomal dominant inheritance OMIM:233700 NCF1 653361 HP:0006532 Recurrent pneumonia OMIM:233700 NCF1 653361 HP:0003206 Decreased activity of NADPH oxidase OMIM:233700 NCF1 653361 HP:0001400 Hepatic abscesses due to immunodeficiency OMIM:233700 NCF1 653361 HP:0001744 Splenomegaly OMIM:233700 NCF1 653361 HP:0003203 Negative nitroblue tetrazolium (NBT) reduction test OMIM:233700 NCF1 653361 HP:0002726 Recurrent Staphylococcus aureus infections OMIM:233700 NCF1 653361 HP:0007417 Discoid lupus erythematosus OMIM:233700 NCF1 653361 HP:0003621 Juvenile onset OMIM:233700 NCF1 653361 HP:0002240 Hepatomegaly OMIM:233700 NCF1 653361 HP:0002842 Recurrent Burkholderia cepacia infections OMIM:233700 NCF1 653361 HP:0002840 Lymphadenitis OMIM:233700 NCF1 653361 HP:0005224 Rectal abscess OMIM:233700 NCF1 653361 HP:0002741 Recurrent Serratia marcescens infections OMIM:233700 NCF1 653361 HP:0002955 Granulomatosis OMIM:233700 NCF1 653361 HP:0000007 Autosomal recessive inheritance OMIM:233700 NCF1 653361 HP:0002742 Recurrent Klebsiella infections OMIM:233700 NCF1 653361 HP:0000976 Eczematoid dermatitis OMIM:233700 NCF1 653361 HP:0002716 Lymphadenopathy OMIM:233700 NCF1 653361 HP:0005406 Recurrent bacterial skin infections OMIM:233700 NCF1 653361 HP:0003553 Cellulitis due to immunodeficiency OMIM:233700 NCF1 653361 HP:0002724 Recurrent Aspergillus infections OMIM:233700 NCF1 653361 HP:0002723 Absence of bactericidal oxidative 'respiratory burst' in phagocytes OMIM:233700 NCF1 653361 HP:0002755 Osteomyelitis due to immunodeficiency OMIM:233700 NCF1 653361 HP:0002740 Recurrent E. coli infections ORPHANET:524 MDM2 4193 HP:0010622 Neoplasm of the skeletal system ORPHANET:524 MDM2 4193 HP:0100273 Neoplasm of the colon ORPHANET:524 MDM2 4193 HP:0004375 Neoplasm of the nervous system ORPHANET:524 MDM2 4193 HP:0002488 Acute leukemia ORPHANET:524 MDM2 4193 HP:0002665 Lymphoma ORPHANET:524 MDM2 4193 HP:0100242 Sarcoma ORPHANET:524 MDM2 4193 HP:0002861 Melanoma ORPHANET:524 MDM2 4193 HP:0100013 Neoplasm of the breast ORPHANET:524 MDM2 4193 HP:0002894 Neoplasm of the pancreas ORPHANET:524 MDM2 4193 HP:0008069 Neoplasm of the skin ORPHANET:524 MDM2 4193 HP:0100526 Neoplasm of the lung ORPHANET:524 MDM2 4193 HP:0100641 Neoplasm of the adrenal cortex ORPHANET:524 CHEK2 11200 HP:0010622 Neoplasm of the skeletal system ORPHANET:524 CHEK2 11200 HP:0100273 Neoplasm of the colon ORPHANET:524 CHEK2 11200 HP:0004375 Neoplasm of the nervous system ORPHANET:524 CHEK2 11200 HP:0002488 Acute leukemia ORPHANET:524 CHEK2 11200 HP:0002665 Lymphoma ORPHANET:524 CHEK2 11200 HP:0100242 Sarcoma ORPHANET:524 CHEK2 11200 HP:0002861 Melanoma ORPHANET:524 CHEK2 11200 HP:0100013 Neoplasm of the breast ORPHANET:524 CHEK2 11200 HP:0002894 Neoplasm of the pancreas ORPHANET:524 CHEK2 11200 HP:0008069 Neoplasm of the skin ORPHANET:524 CHEK2 11200 HP:0100526 Neoplasm of the lung ORPHANET:524 CHEK2 11200 HP:0100641 Neoplasm of the adrenal cortex ORPHANET:524 TP53 7157 HP:0010622 Neoplasm of the skeletal system ORPHANET:524 TP53 7157 HP:0100273 Neoplasm of the colon ORPHANET:524 TP53 7157 HP:0004375 Neoplasm of the nervous system ORPHANET:524 TP53 7157 HP:0002488 Acute leukemia ORPHANET:524 TP53 7157 HP:0002665 Lymphoma ORPHANET:524 TP53 7157 HP:0100242 Sarcoma ORPHANET:524 TP53 7157 HP:0002861 Melanoma ORPHANET:524 TP53 7157 HP:0100013 Neoplasm of the breast ORPHANET:524 TP53 7157 HP:0002894 Neoplasm of the pancreas ORPHANET:524 TP53 7157 HP:0008069 Neoplasm of the skin ORPHANET:524 TP53 7157 HP:0100526 Neoplasm of the lung ORPHANET:524 TP53 7157 HP:0100641 Neoplasm of the adrenal cortex OMIM:190330 FGF5 2250 HP:0000527 Long eyelashes OMIM:190330 FGF5 2250 HP:0000518 Cataract OMIM:190330 FGF5 2250 HP:0000006 Autosomal dominant inheritance OMIM:270700 ZFYVE26 23503 HP:0000505 Visual impairment OMIM:270700 ZFYVE26 23503 HP:0003487 Babinski sign OMIM:270700 ZFYVE26 23503 HP:0001258 Spastic paraplegia OMIM:270700 ZFYVE26 23503 HP:0000012 Urinary urgency OMIM:270700 ZFYVE26 23503 HP:0000007 Autosomal recessive inheritance OMIM:270700 ZFYVE26 23503 HP:0000720 Mood swings OMIM:270700 ZFYVE26 23503 HP:0000608 Macular degeneration OMIM:270700 ZFYVE26 23503 HP:0001761 Pes cavus OMIM:270700 ZFYVE26 23503 HP:0000709 Psychosis OMIM:270700 ZFYVE26 23503 HP:0000546 Retinal degeneration OMIM:270700 ZFYVE26 23503 HP:0003477 Peripheral axonal neuropathy OMIM:270700 ZFYVE26 23503 HP:0007340 Lower limb muscle weakness OMIM:270700 ZFYVE26 23503 HP:0002169 Clonus OMIM:270700 ZFYVE26 23503 HP:0002061 Lower limb spasticity OMIM:270700 ZFYVE26 23503 HP:0001249 Intellectual disability OMIM:270700 ZFYVE26 23503 HP:0003693 Distal amyotrophy OMIM:270700 ZFYVE26 23503 HP:0001251 Ataxia OMIM:270700 ZFYVE26 23503 HP:0000020 Urinary incontinence OMIM:270700 ZFYVE26 23503 HP:0002079 Hypoplasia of the corpus callosum OMIM:270700 ZFYVE26 23503 HP:0002607 Bowel incontinence OMIM:270700 ZFYVE26 23503 HP:0003676 Progressive disorder OMIM:270700 ZFYVE26 23503 HP:0002064 Spastic gait OMIM:270700 ZFYVE26 23503 HP:0003812 Phenotypic variability OMIM:270700 ZFYVE26 23503 HP:0002839 Urinary bladder sphincter dysfunction OMIM:270700 ZFYVE26 23503 HP:0000639 Nystagmus OMIM:270700 ZFYVE26 23503 HP:0001260 Dysarthria OMIM:613100 NTF4 4909 HP:0012108 Primary open angle glaucoma OMIM:608404 CD36 948 HP:0000818 Abnormality of the endocrine system OMIM:608404 CD36 948 HP:0000006 Autosomal dominant inheritance OMIM:608404 CD36 948 HP:0001902 Giant platelets OMIM:608404 CD36 948 HP:0001892 Abnormal bleeding OMIM:608404 CD36 948 HP:0003010 Prolonged bleeding time OMIM:608404 CD36 948 HP:0001873 Thrombocytopenia OMIM:608404 CD36 948 HP:0000007 Autosomal recessive inheritance OMIM:185300 GNAQ 2776 HP:0000329 Facial hemangioma OMIM:185300 GNAQ 2776 HP:0001131 Corneal dystrophy OMIM:185300 GNAQ 2776 HP:0008046 Abnormality of the retinal vasculature OMIM:185300 GNAQ 2776 HP:0012222 Arachnoid hemangiomatosis OMIM:185300 GNAQ 2776 HP:0000238 Hydrocephalus OMIM:185300 GNAQ 2776 HP:0002120 Cerebral cortical atrophy OMIM:185300 GNAQ 2776 HP:0000648 Optic atrophy OMIM:185300 GNAQ 2776 HP:0001139 Choroideremia OMIM:185300 GNAQ 2776 HP:0003745 Sporadic OMIM:185300 GNAQ 2776 HP:0000524 Conjunctival telangiectasia OMIM:185300 GNAQ 2776 HP:0001100 Heterochromia iridis OMIM:185300 GNAQ 2776 HP:0000612 Iris coloboma OMIM:185300 GNAQ 2776 HP:0000256 Macrocephaly OMIM:185300 GNAQ 2776 HP:0008872 Feeding difficulties in infancy OMIM:185300 GNAQ 2776 HP:0000501 Glaucoma OMIM:185300 GNAQ 2776 HP:0000557 Buphthalmos OMIM:185300 GNAQ 2776 HP:0000717 Autism OMIM:185300 GNAQ 2776 HP:0001250 Seizures OMIM:185300 GNAQ 2776 HP:0000212 Gingival overgrowth OMIM:185300 GNAQ 2776 HP:0000541 Retinal detachment OMIM:185300 GNAQ 2776 HP:0007018 Attention deficit hyperactivity disorder OMIM:185300 GNAQ 2776 HP:0000364 Hearing abnormality OMIM:185300 GNAQ 2776 HP:0002308 Arnold-Chiari malformation OMIM:185300 GNAQ 2776 HP:0000505 Visual impairment OMIM:185300 GNAQ 2776 HP:0002167 Neurological speech impairment OMIM:185300 GNAQ 2776 HP:0100543 Cognitive impairment OMIM:185300 GNAQ 2776 HP:0007872 Choroidal hemangiomata OMIM:185300 GNAQ 2776 HP:0001347 Hyperreflexia OMIM:185300 GNAQ 2776 HP:0001249 Intellectual disability OMIM:185300 GNAQ 2776 HP:0002514 Cerebral calcification OMIM:185300 GNAQ 2776 HP:0002637 Cerebral ischemia OMIM:109730 NOTCH1 4851 HP:0001650 Aortic valve stenosis OMIM:109730 NOTCH1 4851 HP:0000006 Autosomal dominant inheritance OMIM:109730 NOTCH1 4851 HP:0001647 Bicuspid aortic valve ORPHANET:99832 TRHR 7201 HP:0001392 Abnormality of the liver ORPHANET:99832 TRHR 7201 HP:0002360 Sleep disturbance ORPHANET:99832 TRHR 7201 HP:0001252 Muscular hypotonia ORPHANET:99832 TRHR 7201 HP:0002019 Constipation ORPHANET:99832 TRHR 7201 HP:0000157 Abnormality of the tongue ORPHANET:99832 TRHR 7201 HP:0001537 Umbilical hernia ORPHANET:99832 TRHR 7201 HP:0000280 Coarse facial features ORPHANET:99832 TRHR 7201 HP:0000235 Abnormality of the fontanelles or cranial sutures ORPHANET:99832 TRHR 7201 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:99832 TRHR 7201 HP:0000821 Hypothyroidism ORPHANET:2754 TCTN3 26123 HP:0000657 Oculomotor apraxia ORPHANET:2754 TCTN3 26123 HP:0001288 Gait disturbance ORPHANET:2754 TCTN3 26123 HP:0002251 Aganglionic megacolon ORPHANET:2754 TCTN3 26123 HP:0100543 Cognitive impairment ORPHANET:2754 TCTN3 26123 HP:0000426 Prominent nasal bridge ORPHANET:2754 TCTN3 26123 HP:0000175 Cleft palate ORPHANET:2754 TCTN3 26123 HP:0001161 Hand polydactyly ORPHANET:2754 TCTN3 26123 HP:0001252 Muscular hypotonia ORPHANET:2754 TCTN3 26123 HP:0002564 Malformation of the heart and great vessels ORPHANET:2754 TCTN3 26123 HP:0002553 Highly arched eyebrow ORPHANET:2754 TCTN3 26123 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2754 TCTN3 26123 HP:0000463 Anteverted nares ORPHANET:2754 TCTN3 26123 HP:0010297 Bifid tongue ORPHANET:2754 TCTN3 26123 HP:0000612 Iris coloboma ORPHANET:2754 TCTN3 26123 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2754 TCTN3 26123 HP:0000508 Ptosis ORPHANET:2754 TCTN3 26123 HP:0002104 Apnea ORPHANET:2754 TCTN3 26123 HP:0001250 Seizures ORPHANET:2754 TCTN3 26123 HP:0001337 Tremor ORPHANET:2754 TCTN3 26123 HP:0000204 Cleft upper lip ORPHANET:2754 TCTN3 26123 HP:0000276 Long face ORPHANET:2754 TCTN3 26123 HP:0004299 Hernia of the abdominal wall ORPHANET:2754 TCTN3 26123 HP:0001163 Abnormality of the metacarpal bones ORPHANET:2754 TCTN3 26123 HP:0001829 Foot polydactyly ORPHANET:2754 TCTN3 26123 HP:0000341 Narrow forehead ORPHANET:2754 TCTN3 26123 HP:0000639 Nystagmus ORPHANET:2754 TCTN3 26123 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:2754 TCTN3 26123 HP:0000486 Strabismus ORPHANET:2754 TCTN3 26123 HP:0000028 Cryptorchidism ORPHANET:2754 TCTN3 26123 HP:0002084 Encephalocele ORPHANET:2754 TCTN3 26123 HP:0002311 Incoordination ORPHANET:2754 PDE6D 5147 HP:0000657 Oculomotor apraxia ORPHANET:2754 PDE6D 5147 HP:0001288 Gait disturbance ORPHANET:2754 PDE6D 5147 HP:0002251 Aganglionic megacolon ORPHANET:2754 PDE6D 5147 HP:0100543 Cognitive impairment ORPHANET:2754 PDE6D 5147 HP:0000426 Prominent nasal bridge ORPHANET:2754 PDE6D 5147 HP:0000175 Cleft palate ORPHANET:2754 PDE6D 5147 HP:0001161 Hand polydactyly ORPHANET:2754 PDE6D 5147 HP:0001252 Muscular hypotonia ORPHANET:2754 PDE6D 5147 HP:0002564 Malformation of the heart and great vessels ORPHANET:2754 PDE6D 5147 HP:0002553 Highly arched eyebrow ORPHANET:2754 PDE6D 5147 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2754 PDE6D 5147 HP:0000463 Anteverted nares ORPHANET:2754 PDE6D 5147 HP:0010297 Bifid tongue ORPHANET:2754 PDE6D 5147 HP:0000612 Iris coloboma ORPHANET:2754 PDE6D 5147 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2754 PDE6D 5147 HP:0000508 Ptosis ORPHANET:2754 PDE6D 5147 HP:0002104 Apnea ORPHANET:2754 PDE6D 5147 HP:0001250 Seizures ORPHANET:2754 PDE6D 5147 HP:0001337 Tremor ORPHANET:2754 PDE6D 5147 HP:0000204 Cleft upper lip ORPHANET:2754 PDE6D 5147 HP:0000276 Long face ORPHANET:2754 PDE6D 5147 HP:0004299 Hernia of the abdominal wall ORPHANET:2754 PDE6D 5147 HP:0001163 Abnormality of the metacarpal bones ORPHANET:2754 PDE6D 5147 HP:0001829 Foot polydactyly ORPHANET:2754 PDE6D 5147 HP:0000341 Narrow forehead ORPHANET:2754 PDE6D 5147 HP:0000639 Nystagmus ORPHANET:2754 PDE6D 5147 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:2754 PDE6D 5147 HP:0000486 Strabismus ORPHANET:2754 PDE6D 5147 HP:0000028 Cryptorchidism ORPHANET:2754 PDE6D 5147 HP:0002084 Encephalocele ORPHANET:2754 PDE6D 5147 HP:0002311 Incoordination ORPHANET:2754 OFD1 8481 HP:0000657 Oculomotor apraxia ORPHANET:2754 OFD1 8481 HP:0001288 Gait disturbance ORPHANET:2754 OFD1 8481 HP:0002251 Aganglionic megacolon ORPHANET:2754 OFD1 8481 HP:0100543 Cognitive impairment ORPHANET:2754 OFD1 8481 HP:0000426 Prominent nasal bridge ORPHANET:2754 OFD1 8481 HP:0000175 Cleft palate ORPHANET:2754 OFD1 8481 HP:0001161 Hand polydactyly ORPHANET:2754 OFD1 8481 HP:0001252 Muscular hypotonia ORPHANET:2754 OFD1 8481 HP:0002564 Malformation of the heart and great vessels ORPHANET:2754 OFD1 8481 HP:0002553 Highly arched eyebrow ORPHANET:2754 OFD1 8481 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2754 OFD1 8481 HP:0000463 Anteverted nares ORPHANET:2754 OFD1 8481 HP:0010297 Bifid tongue ORPHANET:2754 OFD1 8481 HP:0000612 Iris coloboma ORPHANET:2754 OFD1 8481 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2754 OFD1 8481 HP:0000508 Ptosis ORPHANET:2754 OFD1 8481 HP:0002104 Apnea ORPHANET:2754 OFD1 8481 HP:0001250 Seizures ORPHANET:2754 OFD1 8481 HP:0001337 Tremor ORPHANET:2754 OFD1 8481 HP:0000204 Cleft upper lip ORPHANET:2754 OFD1 8481 HP:0000276 Long face ORPHANET:2754 OFD1 8481 HP:0004299 Hernia of the abdominal wall ORPHANET:2754 OFD1 8481 HP:0001163 Abnormality of the metacarpal bones ORPHANET:2754 OFD1 8481 HP:0001829 Foot polydactyly ORPHANET:2754 OFD1 8481 HP:0000341 Narrow forehead ORPHANET:2754 OFD1 8481 HP:0000639 Nystagmus ORPHANET:2754 OFD1 8481 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:2754 OFD1 8481 HP:0000486 Strabismus ORPHANET:2754 OFD1 8481 HP:0000028 Cryptorchidism ORPHANET:2754 OFD1 8481 HP:0002084 Encephalocele ORPHANET:2754 OFD1 8481 HP:0002311 Incoordination ORPHANET:2754 TMEM216 51259 HP:0000657 Oculomotor apraxia ORPHANET:2754 TMEM216 51259 HP:0001288 Gait disturbance ORPHANET:2754 TMEM216 51259 HP:0002251 Aganglionic megacolon ORPHANET:2754 TMEM216 51259 HP:0100543 Cognitive impairment ORPHANET:2754 TMEM216 51259 HP:0000426 Prominent nasal bridge ORPHANET:2754 TMEM216 51259 HP:0000175 Cleft palate ORPHANET:2754 TMEM216 51259 HP:0001161 Hand polydactyly ORPHANET:2754 TMEM216 51259 HP:0001252 Muscular hypotonia ORPHANET:2754 TMEM216 51259 HP:0002564 Malformation of the heart and great vessels ORPHANET:2754 TMEM216 51259 HP:0002553 Highly arched eyebrow ORPHANET:2754 TMEM216 51259 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2754 TMEM216 51259 HP:0000463 Anteverted nares ORPHANET:2754 TMEM216 51259 HP:0010297 Bifid tongue ORPHANET:2754 TMEM216 51259 HP:0000612 Iris coloboma ORPHANET:2754 TMEM216 51259 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2754 TMEM216 51259 HP:0000508 Ptosis ORPHANET:2754 TMEM216 51259 HP:0002104 Apnea ORPHANET:2754 TMEM216 51259 HP:0001250 Seizures ORPHANET:2754 TMEM216 51259 HP:0001337 Tremor ORPHANET:2754 TMEM216 51259 HP:0000204 Cleft upper lip ORPHANET:2754 TMEM216 51259 HP:0000276 Long face ORPHANET:2754 TMEM216 51259 HP:0004299 Hernia of the abdominal wall ORPHANET:2754 TMEM216 51259 HP:0001163 Abnormality of the metacarpal bones ORPHANET:2754 TMEM216 51259 HP:0001829 Foot polydactyly ORPHANET:2754 TMEM216 51259 HP:0000341 Narrow forehead ORPHANET:2754 TMEM216 51259 HP:0000639 Nystagmus ORPHANET:2754 TMEM216 51259 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:2754 TMEM216 51259 HP:0000486 Strabismus ORPHANET:2754 TMEM216 51259 HP:0000028 Cryptorchidism ORPHANET:2754 TMEM216 51259 HP:0002084 Encephalocele ORPHANET:2754 TMEM216 51259 HP:0002311 Incoordination ORPHANET:2754 KIF7 374654 HP:0000657 Oculomotor apraxia ORPHANET:2754 KIF7 374654 HP:0001288 Gait disturbance ORPHANET:2754 KIF7 374654 HP:0002251 Aganglionic megacolon ORPHANET:2754 KIF7 374654 HP:0100543 Cognitive impairment ORPHANET:2754 KIF7 374654 HP:0000426 Prominent nasal bridge ORPHANET:2754 KIF7 374654 HP:0000175 Cleft palate ORPHANET:2754 KIF7 374654 HP:0001161 Hand polydactyly ORPHANET:2754 KIF7 374654 HP:0001252 Muscular hypotonia ORPHANET:2754 KIF7 374654 HP:0002564 Malformation of the heart and great vessels ORPHANET:2754 KIF7 374654 HP:0002553 Highly arched eyebrow ORPHANET:2754 KIF7 374654 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2754 KIF7 374654 HP:0000463 Anteverted nares ORPHANET:2754 KIF7 374654 HP:0010297 Bifid tongue ORPHANET:2754 KIF7 374654 HP:0000612 Iris coloboma ORPHANET:2754 KIF7 374654 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2754 KIF7 374654 HP:0000508 Ptosis ORPHANET:2754 KIF7 374654 HP:0002104 Apnea ORPHANET:2754 KIF7 374654 HP:0001250 Seizures ORPHANET:2754 KIF7 374654 HP:0001337 Tremor ORPHANET:2754 KIF7 374654 HP:0000204 Cleft upper lip ORPHANET:2754 KIF7 374654 HP:0000276 Long face ORPHANET:2754 KIF7 374654 HP:0004299 Hernia of the abdominal wall ORPHANET:2754 KIF7 374654 HP:0001163 Abnormality of the metacarpal bones ORPHANET:2754 KIF7 374654 HP:0001829 Foot polydactyly ORPHANET:2754 KIF7 374654 HP:0000341 Narrow forehead ORPHANET:2754 KIF7 374654 HP:0000639 Nystagmus ORPHANET:2754 KIF7 374654 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:2754 KIF7 374654 HP:0000486 Strabismus ORPHANET:2754 KIF7 374654 HP:0000028 Cryptorchidism ORPHANET:2754 KIF7 374654 HP:0002084 Encephalocele ORPHANET:2754 KIF7 374654 HP:0002311 Incoordination ORPHANET:2754 C5ORF42 65250 HP:0000657 Oculomotor apraxia ORPHANET:2754 C5ORF42 65250 HP:0001288 Gait disturbance ORPHANET:2754 C5ORF42 65250 HP:0002251 Aganglionic megacolon ORPHANET:2754 C5ORF42 65250 HP:0100543 Cognitive impairment ORPHANET:2754 C5ORF42 65250 HP:0000426 Prominent nasal bridge ORPHANET:2754 C5ORF42 65250 HP:0000175 Cleft palate ORPHANET:2754 C5ORF42 65250 HP:0001161 Hand polydactyly ORPHANET:2754 C5ORF42 65250 HP:0001252 Muscular hypotonia ORPHANET:2754 C5ORF42 65250 HP:0002564 Malformation of the heart and great vessels ORPHANET:2754 C5ORF42 65250 HP:0002553 Highly arched eyebrow ORPHANET:2754 C5ORF42 65250 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2754 C5ORF42 65250 HP:0000463 Anteverted nares ORPHANET:2754 C5ORF42 65250 HP:0010297 Bifid tongue ORPHANET:2754 C5ORF42 65250 HP:0000612 Iris coloboma ORPHANET:2754 C5ORF42 65250 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2754 C5ORF42 65250 HP:0000508 Ptosis ORPHANET:2754 C5ORF42 65250 HP:0002104 Apnea ORPHANET:2754 C5ORF42 65250 HP:0001250 Seizures ORPHANET:2754 C5ORF42 65250 HP:0001337 Tremor ORPHANET:2754 C5ORF42 65250 HP:0000204 Cleft upper lip ORPHANET:2754 C5ORF42 65250 HP:0000276 Long face ORPHANET:2754 C5ORF42 65250 HP:0004299 Hernia of the abdominal wall ORPHANET:2754 C5ORF42 65250 HP:0001163 Abnormality of the metacarpal bones ORPHANET:2754 C5ORF42 65250 HP:0001829 Foot polydactyly ORPHANET:2754 C5ORF42 65250 HP:0000341 Narrow forehead ORPHANET:2754 C5ORF42 65250 HP:0000639 Nystagmus ORPHANET:2754 C5ORF42 65250 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:2754 C5ORF42 65250 HP:0000486 Strabismus ORPHANET:2754 C5ORF42 65250 HP:0000028 Cryptorchidism ORPHANET:2754 C5ORF42 65250 HP:0002084 Encephalocele ORPHANET:2754 C5ORF42 65250 HP:0002311 Incoordination OMIM:600522 PLA2G4A 5321 HP:0001891 Iron deficiency anemia OMIM:600522 PLA2G4A 5321 HP:0000007 Autosomal recessive inheritance OMIM:600522 PLA2G4A 5321 HP:0005229 Jejunoileal ulceration OMIM:600522 PLA2G4A 5321 HP:0002584 Intestinal bleeding OMIM:615356 TRAPPC11 60684 HP:0000007 Autosomal recessive inheritance OMIM:615356 TRAPPC11 60684 HP:0000252 Microcephaly OMIM:615356 TRAPPC11 60684 HP:0003326 Myalgia OMIM:615356 TRAPPC11 60684 HP:0001251 Ataxia OMIM:615356 TRAPPC11 60684 HP:0000486 Strabismus OMIM:615356 TRAPPC11 60684 HP:0002650 Scoliosis OMIM:615356 TRAPPC11 60684 HP:0001252 Muscular hypotonia OMIM:615356 TRAPPC11 60684 HP:0003812 Phenotypic variability OMIM:615356 TRAPPC11 60684 HP:0003236 Elevated serum creatine phosphokinase OMIM:615356 TRAPPC11 60684 HP:0001337 Tremor OMIM:615356 TRAPPC11 60684 HP:0000545 Myopia OMIM:615356 TRAPPC11 60684 HP:0004322 Short stature OMIM:615356 TRAPPC11 60684 HP:0002305 Athetosis OMIM:615356 TRAPPC11 60684 HP:0002072 Chorea OMIM:615356 TRAPPC11 60684 HP:0001332 Dystonia OMIM:615356 TRAPPC11 60684 HP:0001263 Global developmental delay OMIM:615356 TRAPPC11 60684 HP:0003394 Muscle cramps OMIM:615356 TRAPPC11 60684 HP:0006785 Limb-girdle muscular dystrophy OMIM:615356 TRAPPC11 60684 HP:0001385 Hip dysplasia OMIM:615356 TRAPPC11 60684 HP:0000518 Cataract OMIM:615356 TRAPPC11 60684 HP:0003701 Proximal muscle weakness OMIM:616214 INS 3630 HP:0003074 Hyperglycemia OMIM:616214 INS 3630 HP:0000842 Hyperinsulinemia OMIM:180550 PITX2 5308 HP:0000006 Autosomal dominant inheritance OMIM:180550 PITX2 5308 HP:0000502 Abnormality of the conjunctiva OMIM:180550 PITX2 5308 HP:0000481 Abnormality of the cornea OMIM:166220 COL1A2 1278 HP:0002808 Kyphosis OMIM:166220 COL1A2 1278 HP:0000362 Otosclerosis OMIM:166220 COL1A2 1278 HP:0002650 Scoliosis OMIM:166220 COL1A2 1278 HP:0003023 Bowing of limbs due to multiple fractures OMIM:166220 COL1A2 1278 HP:0002757 Recurrent fractures OMIM:166220 COL1A2 1278 HP:0000703 Dentinogenesis imperfecta OMIM:166220 COL1A2 1278 HP:0004349 Reduced bone mineral density OMIM:166220 COL1A2 1278 HP:0000365 Hearing impairment OMIM:166220 COL1A2 1278 HP:0003321 Biconcave flattened vertebrae OMIM:166220 COL1A2 1278 HP:0002645 Wormian bones OMIM:166220 COL1A2 1278 HP:0004322 Short stature OMIM:166220 COL1A2 1278 HP:0005005 Femoral bowing present at birth, straightening with time OMIM:166220 COL1A2 1278 HP:0000006 Autosomal dominant inheritance OMIM:166220 COL1A2 1278 HP:0000592 Blue sclerae OMIM:166220 COL1A1 1277 HP:0002808 Kyphosis OMIM:166220 COL1A1 1277 HP:0000362 Otosclerosis OMIM:166220 COL1A1 1277 HP:0002650 Scoliosis OMIM:166220 COL1A1 1277 HP:0003023 Bowing of limbs due to multiple fractures OMIM:166220 COL1A1 1277 HP:0002757 Recurrent fractures OMIM:166220 COL1A1 1277 HP:0000703 Dentinogenesis imperfecta OMIM:166220 COL1A1 1277 HP:0004349 Reduced bone mineral density OMIM:166220 COL1A1 1277 HP:0000365 Hearing impairment OMIM:166220 COL1A1 1277 HP:0003321 Biconcave flattened vertebrae OMIM:166220 COL1A1 1277 HP:0002645 Wormian bones OMIM:166220 COL1A1 1277 HP:0004322 Short stature OMIM:166220 COL1A1 1277 HP:0005005 Femoral bowing present at birth, straightening with time OMIM:166220 COL1A1 1277 HP:0000006 Autosomal dominant inheritance OMIM:166220 COL1A1 1277 HP:0000592 Blue sclerae OMIM:610220 DFNB59 494513 HP:0000007 Autosomal recessive inheritance OMIM:610220 DFNB59 494513 HP:0000407 Sensorineural hearing impairment OMIM:187395 TDGF1 6997 HP:0001331 Absent septum pellucidum OMIM:187395 TDGF1 6997 HP:0002079 Hypoplasia of the corpus callosum OMIM:187395 TDGF1 6997 HP:0001263 Global developmental delay OMIM:187395 TDGF1 6997 HP:0000252 Microcephaly OMIM:276820 WNT7A 7476 HP:0000028 Cryptorchidism OMIM:276820 WNT7A 7476 HP:0000175 Cleft palate OMIM:276820 WNT7A 7476 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:276820 WNT7A 7476 HP:0010173 Aplasia/Hypoplasia of the phalanges of the toes OMIM:276820 WNT7A 7476 HP:0008736 Hypoplasia of penis OMIM:276820 WNT7A 7476 HP:0003982 Absent ulna OMIM:276820 WNT7A 7476 HP:0000046 Scrotal hypoplasia OMIM:276820 WNT7A 7476 HP:0001789 Hydrops fetalis OMIM:276820 WNT7A 7476 HP:0004322 Short stature OMIM:276820 WNT7A 7476 HP:0000884 Prominent sternum OMIM:276820 WNT7A 7476 HP:0001231 Abnormality of the fingernails OMIM:276820 WNT7A 7476 HP:0002980 Femoral bowing OMIM:276820 WNT7A 7476 HP:0001798 Anonychia OMIM:276820 WNT7A 7476 HP:0002992 Abnormality of the tibia OMIM:276820 WNT7A 7476 HP:0001362 Skull defect OMIM:276820 WNT7A 7476 HP:0001552 Barrel-shaped chest OMIM:276820 WNT7A 7476 HP:0000286 Epicanthus OMIM:276820 WNT7A 7476 HP:0002991 Abnormality of the fibula OMIM:276820 WNT7A 7476 HP:0005613 Aplasia/hypoplasia of the femur OMIM:276820 WNT7A 7476 HP:0003063 Abnormality of the humerus OMIM:276820 WNT7A 7476 HP:0001180 Oligodactyly (hands) OMIM:276820 WNT7A 7476 HP:0002575 Tracheoesophageal fistula OMIM:276820 WNT7A 7476 HP:0000008 Abnormality of female internal genitalia OMIM:276820 WNT7A 7476 HP:0000189 Narrow palate OMIM:276820 WNT7A 7476 HP:0002827 Hip dislocation OMIM:276820 WNT7A 7476 HP:0002937 Hemivertebrae OMIM:276820 WNT7A 7476 HP:0006585 Congenital pseudoarthrosis of the clavicle OMIM:276820 WNT7A 7476 HP:0000470 Short neck OMIM:276820 WNT7A 7476 HP:0000218 High palate OMIM:276820 WNT7A 7476 HP:0001964 Aplasia/Hypoplasia of metatarsal bones OMIM:276820 WNT7A 7476 HP:0001883 Talipes OMIM:276820 WNT7A 7476 HP:0002987 Elbow flexion contracture OMIM:276820 WNT7A 7476 HP:0006487 Bowing of the long bones OMIM:276820 WNT7A 7476 HP:0003041 Humeroradial synostosis OMIM:276820 WNT7A 7476 HP:0000007 Autosomal recessive inheritance OMIM:276820 WNT7A 7476 HP:0002984 Hypoplasia of the radius OMIM:276820 WNT7A 7476 HP:0000369 Low-set ears OMIM:276820 WNT7A 7476 HP:0000768 Pectus carinatum OMIM:276820 WNT7A 7476 HP:0002557 Hypoplastic nipples OMIM:276820 WNT7A 7476 HP:0002983 Micromelia OMIM:276820 WNT7A 7476 HP:0002986 Radial bowing OMIM:276820 WNT7A 7476 HP:0002435 Meningocele OMIM:276820 WNT7A 7476 HP:0005474 Decreased calvarial ossification OMIM:276820 WNT7A 7476 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:276820 WNT7A 7476 HP:0100589 Urogenital fistula OMIM:276820 WNT7A 7476 HP:0008363 Aplasia/Hypoplasia of the tarsal bones OMIM:276820 WNT7A 7476 HP:0009104 Aplasia/Hypoplasia of the pubic bone OMIM:276820 WNT7A 7476 HP:0001849 Oligodactyly (feet) OMIM:276820 WNT7A 7476 HP:0000916 Broad clavicles OMIM:276820 WNT7A 7476 HP:0009767 Aplasia/Hypoplasia of the phalanges of the hand OMIM:276820 WNT7A 7476 HP:0002997 Abnormality of the ulna OMIM:276820 WNT7A 7476 HP:0001171 Split hand OMIM:276820 WNT7A 7476 HP:0000047 Hypospadias OMIM:276820 WNT7A 7476 HP:0008817 Aplastic pubic bones OMIM:276820 WNT7A 7476 HP:0003196 Short nose OMIM:276820 WNT7A 7476 HP:0000431 Wide nasal bridge OMIM:276820 WNT7A 7476 HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones OMIM:276820 WNT7A 7476 HP:0003070 Elbow ankylosis OMIM:276820 WNT7A 7476 HP:0000151 Aplasia of the uterus OMIM:276820 WNT7A 7476 HP:0009829 Phocomelia OMIM:276820 WNT7A 7476 HP:0400004 Long ear OMIM:276820 WNT7A 7476 HP:0000885 Broad ribs OMIM:276820 WNT7A 7476 HP:0002990 Fibular aplasia OMIM:276820 WNT7A 7476 HP:0001839 Split foot OMIM:276820 WNT7A 7476 HP:0004231 Carpal bone aplasia OMIM:276820 WNT7A 7476 HP:0003498 Disproportionate short stature OMIM:276820 WNT7A 7476 HP:0003252 Anteriorly displaced genitalia OMIM:276820 WNT7A 7476 HP:0000347 Micrognathia OMIM:276820 WNT7A 7476 HP:0000276 Long face OMIM:276820 WNT7A 7476 HP:0000475 Broad neck OMIM:276820 WNT7A 7476 HP:0001511 Intrauterine growth retardation OMIM:276820 WNT7A 7476 HP:0010769 Pilonidal sinus OMIM:276820 WNT7A 7476 HP:0006502 Aplasia/Hypoplasia involving the carpal bones OMIM:276820 WNT7A 7476 HP:0000377 Abnormality of the pinna OMIM:276820 WNT7A 7476 HP:0002436 Occipital meningocele OMIM:276820 WNT7A 7476 HP:0001773 Short foot OMIM:613087 TLL1 7092 HP:0001631 Defect in the atrial septum OMIM:613087 TLL1 7092 HP:0000006 Autosomal dominant inheritance OMIM:613087 TLL1 7092 HP:0001662 Bradycardia OMIM:613087 TLL1 7092 HP:0005110 Atrial fibrillation OMIM:606812 FH 2271 HP:0000218 High palate OMIM:606812 FH 2271 HP:0000252 Microcephaly OMIM:606812 FH 2271 HP:0000316 Hypertelorism OMIM:606812 FH 2271 HP:0001002 Decreased subcutaneous fat OMIM:606812 FH 2271 HP:0005280 Depressed nasal bridge OMIM:606812 FH 2271 HP:0100954 Open operculum OMIM:606812 FH 2271 HP:0001942 Metabolic acidosis OMIM:606812 FH 2271 HP:0002007 Frontal bossing OMIM:606812 FH 2271 HP:0002126 Polymicrogyria OMIM:606812 FH 2271 HP:0002187 Intellectual disability, profound OMIM:606812 FH 2271 HP:0000463 Anteverted nares OMIM:606812 FH 2271 HP:0000505 Visual impairment OMIM:606812 FH 2271 HP:0001396 Cholestasis OMIM:606812 FH 2271 HP:0001263 Global developmental delay OMIM:606812 FH 2271 HP:0000648 Optic atrophy OMIM:606812 FH 2271 HP:0002133 Status epilepticus OMIM:606812 FH 2271 HP:0001508 Failure to thrive OMIM:606812 FH 2271 HP:0003128 Lactic acidosis OMIM:606812 FH 2271 HP:0007620 Cutaneous leiomyoma OMIM:606812 FH 2271 HP:0001274 Agenesis of corpus callosum OMIM:606812 FH 2271 HP:0000980 Pallor OMIM:606812 FH 2271 HP:0002167 Neurological speech impairment OMIM:606812 FH 2271 HP:0004482 Relative macrocephaly OMIM:606812 FH 2271 HP:0002059 Cerebral atrophy OMIM:606812 FH 2271 HP:0002365 Hypoplasia of the brainstem OMIM:606812 FH 2271 HP:0000007 Autosomal recessive inheritance OMIM:606812 FH 2271 HP:0002190 Choroid plexus cyst OMIM:606812 FH 2271 HP:0001901 Polycythemia OMIM:606812 FH 2271 HP:0003355 Aminoaciduria OMIM:606812 FH 2271 HP:0001252 Muscular hypotonia OMIM:606812 FH 2271 HP:0001399 Hepatic failure OMIM:300604 POF1B 79983 HP:0008209 Premature ovarian failure OMIM:300604 POF1B 79983 HP:0000939 Osteoporosis OMIM:300604 POF1B 79983 HP:0000164 Abnormality of the teeth OMIM:300604 POF1B 79983 HP:0000786 Primary amenorrhea OMIM:300604 POF1B 79983 HP:0000098 Tall stature OMIM:614493 WIPF1 7456 HP:0000964 Eczema OMIM:614493 WIPF1 7456 HP:0012178 Reduced natural killer cell activity OMIM:614493 WIPF1 7456 HP:0005415 Decreased number of CD8+ T cells OMIM:614493 WIPF1 7456 HP:0002719 Recurrent infections OMIM:614493 WIPF1 7456 HP:0000007 Autosomal recessive inheritance OMIM:614493 WIPF1 7456 HP:0001873 Thrombocytopenia OMIM:610968 FKBP10 60681 HP:0004586 Biconcave vertebral bodies OMIM:610968 FKBP10 60681 HP:0000006 Autosomal dominant inheritance OMIM:610968 FKBP10 60681 HP:0000007 Autosomal recessive inheritance OMIM:610968 FKBP10 60681 HP:0004322 Short stature OMIM:610968 FKBP10 60681 HP:0002953 Vertebral compression fractures OMIM:610968 FKBP10 60681 HP:0000592 Blue sclerae OMIM:610968 FKBP10 60681 HP:0000248 Brachycephaly OMIM:610968 FKBP10 60681 HP:0003179 Protrusio acetabuli OMIM:610968 FKBP10 60681 HP:0000703 Dentinogenesis imperfecta OMIM:610968 FKBP10 60681 HP:0001388 Joint laxity OMIM:610968 FKBP10 60681 HP:0000951 Abnormality of the skin OMIM:610968 FKBP10 60681 HP:0003155 Elevated alkaline phosphatase OMIM:610968 FKBP10 60681 HP:0002751 Kyphoscoliosis OMIM:610968 FKBP10 60681 HP:0002659 Increased susceptibility to fractures OMIM:610968 FKBP10 60681 HP:0002812 Coxa vara OMIM:610968 FKBP10 60681 HP:0000938 Osteopenia OMIM:610968 FKBP10 60681 HP:0000325 Triangular face OMIM:610968 FKBP10 60681 HP:0008422 Vertebral wedging OMIM:614899 CABP2 51475 HP:0000365 Hearing impairment OMIM:614899 CABP2 51475 HP:0000007 Autosomal recessive inheritance OMIM:616326 RAPSN 5913 HP:0011968 Feeding difficulties OMIM:616326 RAPSN 5913 HP:0001252 Muscular hypotonia OMIM:616326 RAPSN 5913 HP:0003391 Gowers sign OMIM:616326 RAPSN 5913 HP:0000508 Ptosis OMIM:616326 RAPSN 5913 HP:0000218 High palate OMIM:616326 RAPSN 5913 HP:0002093 Respiratory insufficiency OMIM:616326 RAPSN 5913 HP:0001558 Decreased fetal movement OMIM:616326 RAPSN 5913 HP:0002804 Arthrogryposis multiplex congenita OMIM:616326 RAPSN 5913 HP:0000276 Long face OMIM:616326 RAPSN 5913 HP:0003388 Easy fatigability OMIM:203500 HGD 3081 HP:0003355 Aminoaciduria OMIM:203500 HGD 3081 HP:0001717 Coronary artery calcification OMIM:203500 HGD 3081 HP:0005645 Intervertebral disk calcification OMIM:203500 HGD 3081 HP:0001376 Limitation of joint mobility OMIM:203500 HGD 3081 HP:0000598 Abnormality of the ear OMIM:203500 HGD 3081 HP:0001386 Joint swelling OMIM:203500 HGD 3081 HP:0004690 Thickened Achilles tendon OMIM:203500 HGD 3081 HP:0005103 Calcification of the auricular cartilage OMIM:203500 HGD 3081 HP:0004380 Aortic valve calcification OMIM:203500 HGD 3081 HP:0002948 Vertebral fusion OMIM:203500 HGD 3081 HP:0000364 Hearing abnormality OMIM:203500 HGD 3081 HP:0001507 Growth abnormality OMIM:203500 HGD 3081 HP:0002808 Kyphosis OMIM:203500 HGD 3081 HP:0001369 Arthritis OMIM:203500 HGD 3081 HP:0100261 Abnormal tendon morphology OMIM:203500 HGD 3081 HP:0008419 Intervertebral disc degeneration OMIM:203500 HGD 3081 HP:0004349 Reduced bone mineral density OMIM:203500 HGD 3081 HP:0004382 Mitral valve calcification OMIM:203500 HGD 3081 HP:0001646 Abnormality of the aortic valve OMIM:203500 HGD 3081 HP:0100773 Cartilage destruction OMIM:203500 HGD 3081 HP:0002758 Osteoarthritis OMIM:203500 HGD 3081 HP:0003418 Back pain OMIM:203500 HGD 3081 HP:0000822 Hypertension OMIM:203500 HGD 3081 HP:0000079 Abnormality of the urinary system OMIM:203500 HGD 3081 HP:0007832 Pigmentation of the sclera OMIM:203500 HGD 3081 HP:0000592 Blue sclerae OMIM:203500 HGD 3081 HP:0003040 Arthropathy OMIM:203500 HGD 3081 HP:0001939 Abnormality of metabolism/homeostasis OMIM:203500 HGD 3081 HP:0001677 Coronary artery disease OMIM:203500 HGD 3081 HP:0001718 Mitral stenosis OMIM:203500 HGD 3081 HP:0001724 Aortic dilatation OMIM:203500 HGD 3081 HP:0000934 Chondrocalcinosis OMIM:203500 HGD 3081 HP:0002829 Arthralgia OMIM:203500 HGD 3081 HP:0007400 Irregular hyperpigmentation OMIM:203500 HGD 3081 HP:0000366 Abnormality of the nose OMIM:203500 HGD 3081 HP:0000007 Autosomal recessive inheritance OMIM:203500 HGD 3081 HP:0000787 Nephrolithiasis OMIM:203500 HGD 3081 HP:0000024 Prostatitis OMIM:203500 HGD 3081 HP:0001597 Abnormality of the nail OMIM:616099 KANK2 25959 HP:0040149 Woolly scalp hair OMIM:616099 KANK2 25959 HP:0000535 Sparse eyebrow OMIM:616099 KANK2 25959 HP:0002209 Sparse scalp hair OMIM:616099 KANK2 25959 HP:0000653 Sparse eyelashes OMIM:616099 KANK2 25959 HP:0002231 Sparse body hair OMIM:616099 KANK2 25959 HP:0000982 Palmoplantar keratoderma OMIM:616099 KANK2 25959 HP:0002224 Woolly hair ORPHANET:805 TSC1 7248 HP:0002514 Cerebral calcification ORPHANET:805 TSC1 7248 HP:0100761 Visceral angiomatosis ORPHANET:805 TSC1 7248 HP:0009720 Adenoma sebaceum ORPHANET:805 TSC1 7248 HP:0000826 Precocious puberty ORPHANET:805 TSC1 7248 HP:0000612 Iris coloboma ORPHANET:805 TSC1 7248 HP:0002353 EEG abnormality ORPHANET:805 TSC1 7248 HP:0000230 Gingivitis ORPHANET:805 TSC1 7248 HP:0001034 Hypermelanotic macule ORPHANET:805 TSC1 7248 HP:0000708 Behavioral abnormality ORPHANET:805 TSC1 7248 HP:0000269 Prominent occiput ORPHANET:805 TSC1 7248 HP:0001635 Congestive heart failure ORPHANET:805 TSC1 7248 HP:0100543 Cognitive impairment ORPHANET:805 TSC1 7248 HP:0002103 Abnormality of the pleura ORPHANET:805 TSC1 7248 HP:0002093 Respiratory insufficiency ORPHANET:805 TSC1 7248 HP:0002097 Emphysema ORPHANET:805 TSC1 7248 HP:0100804 Ungual fibroma ORPHANET:805 TSC1 7248 HP:0000821 Hypothyroidism ORPHANET:805 TSC1 7248 HP:0000113 Polycystic kidney dysplasia ORPHANET:805 TSC1 7248 HP:0000957 Cafe-au-lait spot ORPHANET:805 TSC1 7248 HP:0001392 Abnormality of the liver ORPHANET:805 TSC1 7248 HP:0011675 Arrhythmia ORPHANET:805 TSC1 7248 HP:0009594 Retinal hamartoma ORPHANET:805 TSC1 7248 HP:0000083 Renal insufficiency ORPHANET:805 TSC1 7248 HP:0000648 Optic atrophy ORPHANET:805 TSC1 7248 HP:0009726 Renal neoplasm ORPHANET:805 TSC1 7248 HP:0000682 Abnormality of dental enamel ORPHANET:805 TSC1 7248 HP:0001250 Seizures ORPHANET:805 TSC1 7248 HP:0100544 Neoplasm of the heart ORPHANET:805 TSC1 7248 HP:0100764 Lymphangioma ORPHANET:805 TSC1 7248 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:805 TSC1 7248 HP:0002617 Aneurysm ORPHANET:805 TSC1 7248 HP:0001732 Abnormality of the pancreas ORPHANET:805 TSC1 7248 HP:0002516 Increased intracranial pressure ORPHANET:805 TSC1 7248 HP:0100746 Macrodactyly of finger ORPHANET:805 TSC1 7248 HP:0004375 Neoplasm of the nervous system ORPHANET:805 TSC1 7248 HP:0001053 Hypopigmented skin patches ORPHANET:805 TSC2 7249 HP:0002514 Cerebral calcification ORPHANET:805 TSC2 7249 HP:0100761 Visceral angiomatosis ORPHANET:805 TSC2 7249 HP:0009720 Adenoma sebaceum ORPHANET:805 TSC2 7249 HP:0000826 Precocious puberty ORPHANET:805 TSC2 7249 HP:0000612 Iris coloboma ORPHANET:805 TSC2 7249 HP:0002353 EEG abnormality ORPHANET:805 TSC2 7249 HP:0000230 Gingivitis ORPHANET:805 TSC2 7249 HP:0001034 Hypermelanotic macule ORPHANET:805 TSC2 7249 HP:0000708 Behavioral abnormality ORPHANET:805 TSC2 7249 HP:0000269 Prominent occiput ORPHANET:805 TSC2 7249 HP:0001635 Congestive heart failure ORPHANET:805 TSC2 7249 HP:0100543 Cognitive impairment ORPHANET:805 TSC2 7249 HP:0002103 Abnormality of the pleura ORPHANET:805 TSC2 7249 HP:0002093 Respiratory insufficiency ORPHANET:805 TSC2 7249 HP:0002097 Emphysema ORPHANET:805 TSC2 7249 HP:0100804 Ungual fibroma ORPHANET:805 TSC2 7249 HP:0000821 Hypothyroidism ORPHANET:805 TSC2 7249 HP:0000113 Polycystic kidney dysplasia ORPHANET:805 TSC2 7249 HP:0000957 Cafe-au-lait spot ORPHANET:805 TSC2 7249 HP:0001392 Abnormality of the liver ORPHANET:805 TSC2 7249 HP:0011675 Arrhythmia ORPHANET:805 TSC2 7249 HP:0009594 Retinal hamartoma ORPHANET:805 TSC2 7249 HP:0000083 Renal insufficiency ORPHANET:805 TSC2 7249 HP:0000648 Optic atrophy ORPHANET:805 TSC2 7249 HP:0009726 Renal neoplasm ORPHANET:805 TSC2 7249 HP:0000682 Abnormality of dental enamel ORPHANET:805 TSC2 7249 HP:0001250 Seizures ORPHANET:805 TSC2 7249 HP:0100544 Neoplasm of the heart ORPHANET:805 TSC2 7249 HP:0100764 Lymphangioma ORPHANET:805 TSC2 7249 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:805 TSC2 7249 HP:0002617 Aneurysm ORPHANET:805 TSC2 7249 HP:0001732 Abnormality of the pancreas ORPHANET:805 TSC2 7249 HP:0002516 Increased intracranial pressure ORPHANET:805 TSC2 7249 HP:0100746 Macrodactyly of finger ORPHANET:805 TSC2 7249 HP:0004375 Neoplasm of the nervous system ORPHANET:805 TSC2 7249 HP:0001053 Hypopigmented skin patches OMIM:115300 BCO1 53630 HP:0000951 Abnormality of the skin OMIM:115300 BCO1 53630 HP:0000006 Autosomal dominant inheritance OMIM:115300 BCO1 53630 HP:0004905 Vitamin A deficiency OMIM:616367 EDNRA 1909 HP:0000072 Hydroureter OMIM:616367 EDNRA 1909 HP:0000175 Cleft palate OMIM:616367 EDNRA 1909 HP:0000405 Conductive hearing impairment OMIM:616367 EDNRA 1909 HP:0000653 Sparse eyelashes OMIM:616367 EDNRA 1909 HP:0000535 Sparse eyebrow OMIM:616367 EDNRA 1909 HP:0000324 Facial asymmetry OMIM:616367 EDNRA 1909 HP:0000327 Hypoplasia of the maxilla OMIM:616367 EDNRA 1909 HP:0000347 Micrognathia OMIM:616367 EDNRA 1909 HP:0000232 Everted lower lip vermilion OMIM:616367 EDNRA 1909 HP:0000384 Preauricular skin tag OMIM:616367 EDNRA 1909 HP:0000411 Protruding ear OMIM:616367 EDNRA 1909 HP:0000369 Low-set ears OMIM:616367 EDNRA 1909 HP:0004467 Preauricular pit OMIM:616367 EDNRA 1909 HP:0000431 Wide nasal bridge OMIM:616367 EDNRA 1909 HP:0000402 Stenosis of the external auditory canal OMIM:616367 EDNRA 1909 HP:0001647 Bicuspid aortic valve OMIM:616367 EDNRA 1909 HP:0000678 Dental crowding OMIM:616367 EDNRA 1909 HP:0000162 Glossoptosis OMIM:616367 EDNRA 1909 HP:0000680 Delayed eruption of primary teeth OMIM:616367 EDNRA 1909 HP:0000378 Cupped ear ORPHANET:189439 PDE11A 50940 HP:0004349 Reduced bone mineral density ORPHANET:189439 PDE11A 50940 HP:0001578 Hypercortisolism ORPHANET:189439 PDE11A 50940 HP:0004322 Short stature ORPHANET:189439 PDE11A 50940 HP:0001065 Striae distensae ORPHANET:189439 PDE11A 50940 HP:0003202 Skeletal muscle atrophy ORPHANET:189439 PDE11A 50940 HP:0000819 Diabetes mellitus ORPHANET:189439 PDE11A 50940 HP:0002757 Recurrent fractures ORPHANET:189439 PDE11A 50940 HP:0000822 Hypertension ORPHANET:189439 PDE11A 50940 HP:0000963 Thin skin ORPHANET:189439 PDE11A 50940 HP:0003198 Myopathy ORPHANET:189439 PDE11A 50940 HP:0001324 Muscle weakness ORPHANET:189439 PDE11A 50940 HP:0001956 Truncal obesity ORPHANET:189439 PDE11A 50940 HP:0000078 Abnormality of the genital system ORPHANET:189439 PRKAR1A 5573 HP:0004349 Reduced bone mineral density ORPHANET:189439 PRKAR1A 5573 HP:0001578 Hypercortisolism ORPHANET:189439 PRKAR1A 5573 HP:0004322 Short stature ORPHANET:189439 PRKAR1A 5573 HP:0001065 Striae distensae ORPHANET:189439 PRKAR1A 5573 HP:0003202 Skeletal muscle atrophy ORPHANET:189439 PRKAR1A 5573 HP:0000819 Diabetes mellitus ORPHANET:189439 PRKAR1A 5573 HP:0002757 Recurrent fractures ORPHANET:189439 PRKAR1A 5573 HP:0000822 Hypertension ORPHANET:189439 PRKAR1A 5573 HP:0000963 Thin skin ORPHANET:189439 PRKAR1A 5573 HP:0003198 Myopathy ORPHANET:189439 PRKAR1A 5573 HP:0001324 Muscle weakness ORPHANET:189439 PRKAR1A 5573 HP:0001956 Truncal obesity ORPHANET:189439 PRKAR1A 5573 HP:0000078 Abnormality of the genital system ORPHANET:189439 PDE8B 8622 HP:0004349 Reduced bone mineral density ORPHANET:189439 PDE8B 8622 HP:0001578 Hypercortisolism ORPHANET:189439 PDE8B 8622 HP:0004322 Short stature ORPHANET:189439 PDE8B 8622 HP:0001065 Striae distensae ORPHANET:189439 PDE8B 8622 HP:0003202 Skeletal muscle atrophy ORPHANET:189439 PDE8B 8622 HP:0000819 Diabetes mellitus ORPHANET:189439 PDE8B 8622 HP:0002757 Recurrent fractures ORPHANET:189439 PDE8B 8622 HP:0000822 Hypertension ORPHANET:189439 PDE8B 8622 HP:0000963 Thin skin ORPHANET:189439 PDE8B 8622 HP:0003198 Myopathy ORPHANET:189439 PDE8B 8622 HP:0001324 Muscle weakness ORPHANET:189439 PDE8B 8622 HP:0001956 Truncal obesity ORPHANET:189439 PDE8B 8622 HP:0000078 Abnormality of the genital system OMIM:241530 SLC34A3 142680 HP:0001324 Muscle weakness OMIM:241530 SLC34A3 142680 HP:0002148 Hypophosphatemia OMIM:241530 SLC34A3 142680 HP:0002663 Delayed epiphyseal ossification OMIM:241530 SLC34A3 142680 HP:0002653 Bone pain OMIM:241530 SLC34A3 142680 HP:0004724 Calcium nephrolithiasis OMIM:241530 SLC34A3 142680 HP:0010502 Fibular bowing OMIM:241530 SLC34A3 142680 HP:0001438 Abnormality of the abdomen OMIM:241530 SLC34A3 142680 HP:0002007 Frontal bossing OMIM:241530 SLC34A3 142680 HP:0000920 Enlargement of the costochondral junction OMIM:241530 SLC34A3 142680 HP:0002150 Hypercalciuria OMIM:241530 SLC34A3 142680 HP:0000893 Bulging of the costochondral junction OMIM:241530 SLC34A3 142680 HP:0003013 Bulging epiphyses OMIM:241530 SLC34A3 142680 HP:0004492 Widely patent fontanelles and sutures OMIM:241530 SLC34A3 142680 HP:0002980 Femoral bowing OMIM:241530 SLC34A3 142680 HP:0003593 Infantile onset OMIM:241530 SLC34A3 142680 HP:0000124 Renal tubular dysfunction OMIM:241530 SLC34A3 142680 HP:0003155 Elevated alkaline phosphatase OMIM:241530 SLC34A3 142680 HP:0002752 Sparse bone trabeculae OMIM:241530 SLC34A3 142680 HP:0005469 Flat occiput OMIM:241530 SLC34A3 142680 HP:0002982 Tibial bowing OMIM:241530 SLC34A3 142680 HP:0002757 Recurrent fractures OMIM:241530 SLC34A3 142680 HP:0002979 Bowing of the legs OMIM:241530 SLC34A3 142680 HP:0003152 Increased serum 1,25-dihydroxyvitamin D3 OMIM:241530 SLC34A3 142680 HP:0003025 Metaphyseal irregularity OMIM:241530 SLC34A3 142680 HP:0001508 Failure to thrive OMIM:241530 SLC34A3 142680 HP:0004912 Hypophosphatemic rickets OMIM:241530 SLC34A3 142680 HP:0001252 Muscular hypotonia OMIM:241530 SLC34A3 142680 HP:0003698 Difficulty standing OMIM:241530 SLC34A3 142680 HP:0002355 Difficulty walking OMIM:241530 SLC34A3 142680 HP:0002748 Rickets OMIM:241530 SLC34A3 142680 HP:0003020 Enlargement of the wrists OMIM:241530 SLC34A3 142680 HP:0000886 Deformed rib cage OMIM:241530 SLC34A3 142680 HP:0004322 Short stature OMIM:241530 SLC34A3 142680 HP:0000117 Renal phosphate wasting OMIM:241530 SLC34A3 142680 HP:0002753 Thin bony cortex OMIM:241530 SLC34A3 142680 HP:0000007 Autosomal recessive inheritance OMIM:241530 SLC34A3 142680 HP:0003029 Enlargement of the ankles OMIM:615073 GNAL 2774 HP:0002451 Limb dystonia OMIM:615073 GNAL 2774 HP:0012049 Laryngeal dystonia OMIM:615073 GNAL 2774 HP:0000473 Torticollis OMIM:615073 GNAL 2774 HP:0000006 Autosomal dominant inheritance OMIM:613680 THOC6 79228 HP:0000252 Microcephaly OMIM:613680 THOC6 79228 HP:0000085 Horseshoe kidney OMIM:613680 THOC6 79228 HP:0001999 Abnormal facial shape OMIM:613680 THOC6 79228 HP:0000490 Deeply set eye OMIM:613680 THOC6 79228 HP:0001249 Intellectual disability OMIM:613680 THOC6 79228 HP:0012745 Short palpebral fissure OMIM:613680 THOC6 79228 HP:0030127 Endometriosis OMIM:613680 THOC6 79228 HP:0000670 Carious teeth OMIM:613680 THOC6 79228 HP:0000582 Upslanted palpebral fissure OMIM:613680 THOC6 79228 HP:0000545 Myopia OMIM:613680 THOC6 79228 HP:0000689 Dental malocclusion OMIM:613680 THOC6 79228 HP:0001263 Global developmental delay OMIM:613680 THOC6 79228 HP:0001643 Patent ductus arteriosus OMIM:613680 THOC6 79228 HP:0009765 Low hanging columella OMIM:613680 THOC6 79228 HP:0009890 High anterior hairline OMIM:613680 THOC6 79228 HP:0000581 Blepharophimosis OMIM:613680 THOC6 79228 HP:0003189 Long nose OMIM:613680 THOC6 79228 HP:0000007 Autosomal recessive inheritance OMIM:613680 THOC6 79228 HP:0000010 Recurrent urinary tract infections OMIM:259600 MMP2 4313 HP:0000520 Proptosis OMIM:259600 MMP2 4313 HP:0002953 Vertebral compression fractures OMIM:259600 MMP2 4313 HP:0000007 Autosomal recessive inheritance OMIM:259600 MMP2 4313 HP:0006086 Thin metacarpal cortices OMIM:259600 MMP2 4313 HP:0008090 Ankylosis of feet small joints OMIM:259600 MMP2 4313 HP:0002007 Frontal bossing OMIM:259600 MMP2 4313 HP:0001495 Carpal osteolysis OMIM:259600 MMP2 4313 HP:0001761 Pes cavus OMIM:259600 MMP2 4313 HP:0000939 Osteoporosis OMIM:259600 MMP2 4313 HP:0001476 Delayed closure of the anterior fontanelle OMIM:259600 MMP2 4313 HP:0001836 Camptodactyly of toe OMIM:259600 MMP2 4313 HP:0001072 Thickened skin OMIM:259600 MMP2 4313 HP:0000316 Hypertelorism OMIM:259600 MMP2 4313 HP:0001783 Broad metatarsal OMIM:259600 MMP2 4313 HP:0000212 Gingival overgrowth OMIM:259600 MMP2 4313 HP:0002751 Kyphoscoliosis OMIM:259600 MMP2 4313 HP:0006234 Osteolysis involving tarsal bones OMIM:259600 MMP2 4313 HP:0006466 Ankle contracture OMIM:259600 MMP2 4313 HP:0003493 Antinuclear antibody positivity OMIM:259600 MMP2 4313 HP:0000280 Coarse facial features OMIM:259600 MMP2 4313 HP:0000327 Hypoplasia of the maxilla OMIM:259600 MMP2 4313 HP:0000347 Micrognathia OMIM:259600 MMP2 4313 HP:0005441 Sclerotic cranial sutures OMIM:259600 MMP2 4313 HP:0003320 C1-C2 subluxation OMIM:259600 MMP2 4313 HP:0001239 Wrist flexion contracture OMIM:259600 MMP2 4313 HP:0008011 Peripheral opacification of the cornea OMIM:259600 MMP2 4313 HP:0001007 Hirsutism OMIM:259600 MMP2 4313 HP:0003621 Juvenile onset OMIM:259600 MMP2 4313 HP:0008078 Thin metatarsal cortices OMIM:259600 MMP2 4313 HP:0000684 Delayed eruption of teeth OMIM:259600 MMP2 4313 HP:0001763 Pes planus OMIM:259600 MMP2 4313 HP:0001482 Subcutaneous nodule OMIM:259600 MMP2 4313 HP:0006012 Widened metacarpal shaft OMIM:259600 MMP2 4313 HP:0001171 Split hand OMIM:259600 MMP2 4313 HP:0000414 Bulbous nose OMIM:259600 MMP2 4313 HP:0000938 Osteopenia OMIM:259600 MMP2 4313 HP:0000765 Abnormality of the thorax OMIM:259600 MMP2 4313 HP:0001504 Metacarpal osteolysis OMIM:259600 MMP2 4313 HP:0002829 Arthralgia OMIM:259600 MMP2 4313 HP:0003593 Infantile onset OMIM:259600 MMP2 4313 HP:0001288 Gait disturbance OMIM:259600 MMP2 4313 HP:0000446 Narrow nasal bridge OMIM:259600 MMP2 4313 HP:0001473 Metatarsal osteolysis OMIM:259600 MMP2 4313 HP:0000248 Brachycephaly OMIM:259600 MMP2 4313 HP:0003273 Hip contracture OMIM:259600 MMP2 4313 HP:0001220 Interphalangeal joint contracture of finger OMIM:259600 MMP2 4313 HP:0003016 Metaphyseal widening OMIM:259600 MMP2 4313 HP:0001034 Hypermelanotic macule OMIM:259600 MMP2 4313 HP:0004322 Short stature OMIM:259600 MMP2 4313 HP:0006252 Interphalangeal joint erosions OMIM:259600 MMP2 4313 HP:0003179 Protrusio acetabuli OMIM:259600 MMP2 4313 HP:0000598 Abnormality of the ear OMIM:259600 MMP2 4313 HP:0008133 Distal tapering of metatarsals OMIM:258100 SAG 6295 HP:0007642 Congenital stationary night blindness OMIM:258100 SAG 6295 HP:0000007 Autosomal recessive inheritance OMIM:258100 SAG 6295 HP:0012047 Hemeralopia OMIM:614485 FREM1 158326 HP:0000252 Microcephaly OMIM:614485 FREM1 158326 HP:0000316 Hypertelorism OMIM:614485 FREM1 158326 HP:0000006 Autosomal dominant inheritance OMIM:614485 FREM1 158326 HP:0000243 Trigonocephaly ORPHANET:745 PROC 5624 HP:0200042 Skin ulcer ORPHANET:745 PROC 5624 HP:0004418 Thrombophlebitis ORPHANET:745 PROC 5624 HP:0002204 Pulmonary embolism ORPHANET:745 PROC 5624 HP:0000963 Thin skin ORPHANET:745 PROC 5624 HP:0001933 Subcutaneous hemorrhage ORPHANET:745 PROC 5624 HP:0005293 Venous insufficiency ORPHANET:745 PROC 5624 HP:0100758 Gangrene ORPHANET:745 PROC 5624 HP:0001000 Abnormality of skin pigmentation ORPHANET:745 PROC 5624 HP:0100659 Abnormality of the cerebral vasculature OMIM:614839 TAC3 6866 HP:0000786 Primary amenorrhea OMIM:614839 TAC3 6866 HP:0001256 Intellectual disability, mild OMIM:614839 TAC3 6866 HP:0000458 Anosmia OMIM:614839 TAC3 6866 HP:0000044 Hypogonadotrophic hypogonadism OMIM:614839 TAC3 6866 HP:0000007 Autosomal recessive inheritance OMIM:300584 IKBKG 8517 HP:0001419 X-linked recessive inheritance OMIM:300584 IKBKG 8517 HP:0003496 Increased IgM level OMIM:300584 IKBKG 8517 HP:0002847 Impaired memory B-cell generation OMIM:300584 IKBKG 8517 HP:0002721 Immunodeficiency OMIM:300584 IKBKG 8517 HP:0002720 IgA deficiency OMIM:300584 IKBKG 8517 HP:0011275 Recurrent mycobacterium avium complex infections OMIM:300584 IKBKG 8517 HP:0004315 IgG deficiency OMIM:612852 IL1RN 3557 HP:0002098 Respiratory distress OMIM:612852 IL1RN 3557 HP:0001744 Splenomegaly OMIM:612852 IL1RN 3557 HP:0002829 Arthralgia OMIM:612852 IL1RN 3557 HP:0000007 Autosomal recessive inheritance OMIM:612852 IL1RN 3557 HP:0006530 Interstitial pulmonary disease OMIM:612852 IL1RN 3557 HP:0002949 Fused cervical vertebrae OMIM:612852 IL1RN 3557 HP:0001386 Joint swelling OMIM:612852 IL1RN 3557 HP:0000962 Hyperkeratosis OMIM:612852 IL1RN 3557 HP:0002240 Hepatomegaly OMIM:612852 IL1RN 3557 HP:0002754 Osteomyelitis OMIM:612852 IL1RN 3557 HP:0010280 Stomatitis OMIM:613308 RPS10 6204 HP:0001903 Anemia OMIM:611228 FIG4 9896 HP:0003447 Axonal loss OMIM:611228 FIG4 9896 HP:0007182 Peripheral hypomyelination OMIM:611228 FIG4 9896 HP:0002359 Frequent falls OMIM:611228 FIG4 9896 HP:0006466 Ankle contracture OMIM:611228 FIG4 9896 HP:0001265 Hyporeflexia OMIM:611228 FIG4 9896 HP:0003383 Onion bulb formation OMIM:611228 FIG4 9896 HP:0002460 Distal muscle weakness OMIM:611228 FIG4 9896 HP:0005684 Distal arthrogryposis OMIM:611228 FIG4 9896 HP:0001284 Areflexia OMIM:611228 FIG4 9896 HP:0000007 Autosomal recessive inheritance OMIM:611228 FIG4 9896 HP:0000762 Decreased nerve conduction velocity OMIM:611228 FIG4 9896 HP:0002936 Distal sensory impairment OMIM:611228 FIG4 9896 HP:0001288 Gait disturbance OMIM:611228 FIG4 9896 HP:0001270 Motor delay ORPHANET:302 TMC8 147138 HP:0002715 Abnormality of the immune system ORPHANET:302 TMC8 147138 HP:0200039 Pustule ORPHANET:302 TMC8 147138 HP:0001053 Hypopigmented skin patches ORPHANET:302 TMC8 147138 HP:0100585 Teleangiectasia of the skin ORPHANET:302 TMC8 147138 HP:0200043 Verrucae ORPHANET:302 TMC8 147138 HP:0000957 Cafe-au-lait spot ORPHANET:302 TMC8 147138 HP:0200042 Skin ulcer ORPHANET:302 TMC8 147138 HP:0001051 Seborrheic dermatitis ORPHANET:302 TMC6 11322 HP:0002715 Abnormality of the immune system ORPHANET:302 TMC6 11322 HP:0200039 Pustule ORPHANET:302 TMC6 11322 HP:0001053 Hypopigmented skin patches ORPHANET:302 TMC6 11322 HP:0100585 Teleangiectasia of the skin ORPHANET:302 TMC6 11322 HP:0200043 Verrucae ORPHANET:302 TMC6 11322 HP:0000957 Cafe-au-lait spot ORPHANET:302 TMC6 11322 HP:0200042 Skin ulcer ORPHANET:302 TMC6 11322 HP:0001051 Seborrheic dermatitis OMIM:604321 CASC5 57082 HP:0100710 Impulsivity OMIM:604321 CASC5 57082 HP:0000718 Aggressive behavior OMIM:604321 CASC5 57082 HP:0000252 Microcephaly OMIM:604321 CASC5 57082 HP:0001335 Bimanual synkinesia OMIM:604321 CASC5 57082 HP:0001249 Intellectual disability OMIM:604321 CASC5 57082 HP:0000007 Autosomal recessive inheritance OMIM:612389 TSEN2 80746 HP:0001250 Seizures OMIM:612389 TSEN2 80746 HP:0002072 Chorea OMIM:612389 TSEN2 80746 HP:0002169 Clonus OMIM:612389 TSEN2 80746 HP:0002509 Limb hypertonia OMIM:612389 TSEN2 80746 HP:0009879 Cortical gyral simplification OMIM:612389 TSEN2 80746 HP:0000007 Autosomal recessive inheritance OMIM:612389 TSEN2 80746 HP:0002079 Hypoplasia of the corpus callosum OMIM:612389 TSEN2 80746 HP:0001321 Cerebellar hypoplasia OMIM:612389 TSEN2 80746 HP:0002059 Cerebral atrophy OMIM:612389 TSEN2 80746 HP:0008936 Muscular hypotonia of the trunk OMIM:612389 TSEN2 80746 HP:0001332 Dystonia OMIM:612389 TSEN2 80746 HP:0002119 Ventriculomegaly OMIM:612389 TSEN2 80746 HP:0011968 Feeding difficulties OMIM:612389 TSEN2 80746 HP:0000340 Sloping forehead OMIM:612389 TSEN2 80746 HP:0002179 Opisthotonus OMIM:612389 TSEN2 80746 HP:0002365 Hypoplasia of the brainstem OMIM:612389 TSEN2 80746 HP:0000252 Microcephaly OMIM:612389 TSEN2 80746 HP:0003487 Babinski sign OMIM:612389 TSEN2 80746 HP:0007308 Extrapyramidal dyskinesia OMIM:312090 SLC10A3 8273 HP:0001417 X-linked inheritance OMIM:610743 SYNE1 23345 HP:0001310 Dysmetria OMIM:610743 SYNE1 23345 HP:0001272 Cerebellar atrophy OMIM:610743 SYNE1 23345 HP:0002066 Gait ataxia OMIM:610743 SYNE1 23345 HP:0002311 Incoordination OMIM:610743 SYNE1 23345 HP:0002070 Limb ataxia OMIM:610743 SYNE1 23345 HP:0001260 Dysarthria OMIM:610743 SYNE1 23345 HP:0000639 Nystagmus OMIM:194300 KRT74 121391 HP:0002208 Coarse hair OMIM:194300 KRT74 121391 HP:0011359 Dry hair OMIM:194300 KRT74 121391 HP:0002224 Woolly hair OMIM:194300 KRT74 121391 HP:0000006 Autosomal dominant inheritance OMIM:272440 CKAP2L 150468 HP:0000668 Hypodontia OMIM:272440 CKAP2L 150468 HP:0004322 Short stature OMIM:272440 CKAP2L 150468 HP:0000426 Prominent nasal bridge OMIM:272440 CKAP2L 150468 HP:0000430 Underdeveloped nasal alae OMIM:272440 CKAP2L 150468 HP:0000648 Optic atrophy OMIM:272440 CKAP2L 150468 HP:0100543 Cognitive impairment OMIM:272440 CKAP2L 150468 HP:0000520 Proptosis OMIM:272440 CKAP2L 150468 HP:0002167 Neurological speech impairment OMIM:272440 CKAP2L 150468 HP:0001250 Seizures OMIM:272440 CKAP2L 150468 HP:0000322 Short philtrum OMIM:272440 CKAP2L 150468 HP:0002750 Delayed skeletal maturation OMIM:272440 CKAP2L 150468 HP:0006101 Finger syndactyly OMIM:272440 CKAP2L 150468 HP:0000691 Microdontia OMIM:272440 CKAP2L 150468 HP:0000337 Broad forehead OMIM:272440 CKAP2L 150468 HP:0000252 Microcephaly OMIM:272440 CKAP2L 150468 HP:0000028 Cryptorchidism OMIM:272440 CKAP2L 150468 HP:0008897 Postnatal growth retardation OMIM:272440 CKAP2L 150468 HP:0001272 Cerebellar atrophy OMIM:272440 CKAP2L 150468 HP:0000233 Thin vermilion border OMIM:272440 CKAP2L 150468 HP:0008070 Sparse hair OMIM:272440 CKAP2L 150468 HP:0001511 Intrauterine growth retardation OMIM:272440 CKAP2L 150468 HP:0000505 Visual impairment OMIM:272440 CKAP2L 150468 HP:0010714 2-4 toe syndactyly OMIM:272440 CKAP2L 150468 HP:0001332 Dystonia OMIM:272440 CKAP2L 150468 HP:0000954 Single transverse palmar crease OMIM:272440 CKAP2L 150468 HP:0001629 Ventricular septal defect OMIM:272440 CKAP2L 150468 HP:0000998 Hypertrichosis OMIM:272440 CKAP2L 150468 HP:0001249 Intellectual disability OMIM:272440 CKAP2L 150468 HP:0000062 Ambiguous genitalia OMIM:272440 CKAP2L 150468 HP:0002007 Frontal bossing OMIM:272440 CKAP2L 150468 HP:0004209 Clinodactyly of the 5th finger OMIM:272440 CKAP2L 150468 HP:0004325 Decreased body weight OMIM:272440 CKAP2L 150468 HP:0000007 Autosomal recessive inheritance OMIM:272440 CKAP2L 150468 HP:0000431 Wide nasal bridge OMIM:611597 BFSP2 8419 HP:0007834 Progressive cataract OMIM:611597 BFSP2 8419 HP:0000006 Autosomal dominant inheritance OMIM:611597 BFSP2 8419 HP:0000519 Congenital cataract OMIM:611597 BFSP2 8419 HP:0000545 Myopia OMIM:613657 IDH2 3418 HP:0001252 Muscular hypotonia OMIM:613657 IDH2 3418 HP:0000006 Autosomal dominant inheritance OMIM:613657 IDH2 3418 HP:0001250 Seizures OMIM:613657 IDH2 3418 HP:0001263 Global developmental delay OMIM:613657 IDH2 3418 HP:0001638 Cardiomyopathy OMIM:613657 IDH2 3418 HP:0012321 D-2-hydroxyglutaric aciduria OMIM:131900 KRT5 3852 HP:0000006 Autosomal dominant inheritance OMIM:131900 KRT5 3852 HP:0001056 Milia OMIM:131900 KRT5 3852 HP:0008066 Abnormal blistering of the skin OMIM:131900 KRT5 3852 HP:0000682 Abnormality of dental enamel OMIM:131900 KRT5 3852 HP:0002793 Abnormal pattern of respiration OMIM:131900 KRT5 3852 HP:0000982 Palmoplantar keratoderma OMIM:131900 KRT5 3852 HP:0000972 Palmoplantar hyperkeratosis OMIM:131900 KRT5 3852 HP:0003473 Fatigable weakness OMIM:131900 KRT5 3852 HP:0000597 Ophthalmoparesis OMIM:131900 KRT5 3852 HP:0002164 Nail dysplasia OMIM:131900 KRT5 3852 HP:0001933 Subcutaneous hemorrhage OMIM:131900 KRT5 3852 HP:0002093 Respiratory insufficiency OMIM:131900 KRT5 3852 HP:0001597 Abnormality of the nail OMIM:131900 KRT5 3852 HP:0000975 Hyperhidrosis OMIM:131900 KRT5 3852 HP:0000508 Ptosis OMIM:131900 KRT5 3852 HP:0008404 Nail dystrophy OMIM:131900 KRT14 3861 HP:0000006 Autosomal dominant inheritance OMIM:131900 KRT14 3861 HP:0001056 Milia OMIM:131900 KRT14 3861 HP:0008066 Abnormal blistering of the skin OMIM:131900 KRT14 3861 HP:0000682 Abnormality of dental enamel OMIM:131900 KRT14 3861 HP:0002793 Abnormal pattern of respiration OMIM:131900 KRT14 3861 HP:0000982 Palmoplantar keratoderma OMIM:131900 KRT14 3861 HP:0000972 Palmoplantar hyperkeratosis OMIM:131900 KRT14 3861 HP:0003473 Fatigable weakness OMIM:131900 KRT14 3861 HP:0000597 Ophthalmoparesis OMIM:131900 KRT14 3861 HP:0002164 Nail dysplasia OMIM:131900 KRT14 3861 HP:0001933 Subcutaneous hemorrhage OMIM:131900 KRT14 3861 HP:0002093 Respiratory insufficiency OMIM:131900 KRT14 3861 HP:0001597 Abnormality of the nail OMIM:131900 KRT14 3861 HP:0000975 Hyperhidrosis OMIM:131900 KRT14 3861 HP:0000508 Ptosis OMIM:131900 KRT14 3861 HP:0008404 Nail dystrophy OMIM:612952 SAMHD1 25939 HP:0009710 Chilblain lesions OMIM:612952 SAMHD1 25939 HP:0001263 Global developmental delay OMIM:612952 SAMHD1 25939 HP:0002415 Leukodystrophy OMIM:612952 SAMHD1 25939 HP:0008872 Feeding difficulties in infancy OMIM:612952 SAMHD1 25939 HP:0000007 Autosomal recessive inheritance OMIM:612952 SAMHD1 25939 HP:0002135 Basal ganglia calcification OMIM:300672 CDKL5 6792 HP:0000490 Deeply set eye OMIM:300672 CDKL5 6792 HP:0000733 Stereotypic behavior OMIM:300672 CDKL5 6792 HP:0003593 Infantile onset OMIM:300672 CDKL5 6792 HP:0001252 Muscular hypotonia OMIM:300672 CDKL5 6792 HP:0200134 Epileptic encephalopathy OMIM:300672 CDKL5 6792 HP:0002187 Intellectual disability, profound OMIM:300672 CDKL5 6792 HP:0000463 Anteverted nares OMIM:300672 CDKL5 6792 HP:0000817 Poor eye contact OMIM:300672 CDKL5 6792 HP:0001336 Myoclonus OMIM:300672 CDKL5 6792 HP:0002521 Hypsarrhythmia OMIM:300672 CDKL5 6792 HP:0002376 Developmental regression OMIM:300672 CDKL5 6792 HP:0002123 Generalized myoclonic seizures OMIM:300672 CDKL5 6792 HP:0004279 Short palm OMIM:300672 CDKL5 6792 HP:0000337 Broad forehead OMIM:300672 CDKL5 6792 HP:0000179 Thick lower lip vermilion OMIM:300672 CDKL5 6792 HP:0002019 Constipation OMIM:300672 CDKL5 6792 HP:0200055 Small hand OMIM:300672 CDKL5 6792 HP:0001773 Short foot OMIM:300672 CDKL5 6792 HP:0002540 Inability to walk OMIM:300672 CDKL5 6792 HP:0001423 X-linked dominant inheritance OMIM:300672 CDKL5 6792 HP:0002883 Hyperventilation OMIM:300672 CDKL5 6792 HP:0002020 Gastroesophageal reflux OMIM:300672 CDKL5 6792 HP:0001182 Tapered finger OMIM:300672 CDKL5 6792 HP:0011220 Prominent forehead OMIM:300672 CDKL5 6792 HP:0012469 Infantile spasms OMIM:300672 CDKL5 6792 HP:0001263 Global developmental delay OMIM:300672 CDKL5 6792 HP:0000253 Progressive microcephaly OMIM:300672 CDKL5 6792 HP:0002650 Scoliosis OMIM:245010 CTSC 1075 HP:0001763 Pes planus OMIM:245010 CTSC 1075 HP:0006224 Tapering pointed ends of distal finger phalanges OMIM:245010 CTSC 1075 HP:0001369 Arthritis OMIM:245010 CTSC 1075 HP:0001231 Abnormality of the fingernails OMIM:245010 CTSC 1075 HP:0001166 Arachnodactyly OMIM:245010 CTSC 1075 HP:0008388 Abnormality of the toenails OMIM:245010 CTSC 1075 HP:0000007 Autosomal recessive inheritance OMIM:245010 CTSC 1075 HP:0001805 Thick nail OMIM:245010 CTSC 1075 HP:0200042 Skin ulcer OMIM:245010 CTSC 1075 HP:0000166 Severe periodontitis OMIM:245010 CTSC 1075 HP:0000982 Palmoplantar keratoderma OMIM:245010 CTSC 1075 HP:0007545 Congenital palmoplantar keratosis OMIM:245010 CTSC 1075 HP:0009771 Osteolytic defects of the phalanges of the hand OMIM:245010 CTSC 1075 HP:0005406 Recurrent bacterial skin infections OMIM:245010 CTSC 1075 HP:0003401 Paresthesia OMIM:245010 CTSC 1075 HP:0000212 Gingival overgrowth OMIM:245010 CTSC 1075 HP:0000704 Periodontitis OMIM:245010 CTSC 1075 HP:0002797 Osteolysis OMIM:245010 CTSC 1075 HP:0009832 Abnormality of the distal phalanx of finger OMIM:304110 EFNB1 1947 HP:0006101 Finger syndactyly OMIM:304110 EFNB1 1947 HP:0000912 Sprengel anomaly OMIM:304110 EFNB1 1947 HP:0000028 Cryptorchidism OMIM:304110 EFNB1 1947 HP:0200053 Hemihypotrophy of lower limb OMIM:304110 EFNB1 1947 HP:0009890 High anterior hairline OMIM:304110 EFNB1 1947 HP:0002007 Frontal bossing OMIM:304110 EFNB1 1947 HP:0002079 Hypoplasia of the corpus callosum OMIM:304110 EFNB1 1947 HP:0000407 Sensorineural hearing impairment OMIM:304110 EFNB1 1947 HP:0001357 Plagiocephaly OMIM:304110 EFNB1 1947 HP:0000175 Cleft palate OMIM:304110 EFNB1 1947 HP:0000889 Abnormality of the clavicle OMIM:304110 EFNB1 1947 HP:0000324 Facial asymmetry OMIM:304110 EFNB1 1947 HP:0006709 Aplasia/Hypoplasia of the nipples OMIM:304110 EFNB1 1947 HP:0004209 Clinodactyly of the 5th finger OMIM:304110 EFNB1 1947 HP:0001807 Ridged nail OMIM:304110 EFNB1 1947 HP:0000494 Downslanted palpebral fissures OMIM:304110 EFNB1 1947 HP:0001156 Brachydactyly syndrome OMIM:304110 EFNB1 1947 HP:0002650 Scoliosis OMIM:304110 EFNB1 1947 HP:0000431 Wide nasal bridge OMIM:304110 EFNB1 1947 HP:0000577 Exotropia OMIM:304110 EFNB1 1947 HP:0008388 Abnormality of the toenails OMIM:304110 EFNB1 1947 HP:0000316 Hypertelorism OMIM:304110 EFNB1 1947 HP:0000164 Abnormality of the teeth OMIM:304110 EFNB1 1947 HP:0003043 Abnormality of the shoulder OMIM:304110 EFNB1 1947 HP:0001263 Global developmental delay OMIM:304110 EFNB1 1947 HP:0001809 Split nail OMIM:304110 EFNB1 1947 HP:0001252 Muscular hypotonia OMIM:304110 EFNB1 1947 HP:0001770 Toe syndactyly OMIM:304110 EFNB1 1947 HP:0000456 Bifid nasal tip OMIM:304110 EFNB1 1947 HP:0000767 Pectus excavatum OMIM:304110 EFNB1 1947 HP:0004322 Short stature OMIM:304110 EFNB1 1947 HP:0001161 Hand polydactyly OMIM:304110 EFNB1 1947 HP:0001841 Preaxial foot polydactyly OMIM:304110 EFNB1 1947 HP:0000776 Congenital diaphragmatic hernia OMIM:304110 EFNB1 1947 HP:0001537 Umbilical hernia OMIM:304110 EFNB1 1947 HP:0001231 Abnormality of the fingernails OMIM:304110 EFNB1 1947 HP:0001388 Joint laxity OMIM:304110 EFNB1 1947 HP:0000049 Shawl scrotum OMIM:304110 EFNB1 1947 HP:0001808 Fragile nails OMIM:304110 EFNB1 1947 HP:0004122 Midline defect of the nose OMIM:304110 EFNB1 1947 HP:0001423 X-linked dominant inheritance OMIM:304110 EFNB1 1947 HP:0001060 Axillary pterygia OMIM:304110 EFNB1 1947 HP:0000202 Oral cleft OMIM:304110 EFNB1 1947 HP:0000252 Microcephaly OMIM:304110 EFNB1 1947 HP:0001852 Sandal gap OMIM:304110 EFNB1 1947 HP:0001547 Abnormality of the rib cage OMIM:304110 EFNB1 1947 HP:0200021 Down-sloping shoulders OMIM:304110 EFNB1 1947 HP:0002162 Low posterior hairline OMIM:304110 EFNB1 1947 HP:0000349 Widow's peak OMIM:304110 EFNB1 1947 HP:0012813 Unilateral breast hypoplasia OMIM:304110 EFNB1 1947 HP:0006585 Congenital pseudoarthrosis of the clavicle OMIM:304110 EFNB1 1947 HP:0004440 Coronal craniosynostosis OMIM:304110 EFNB1 1947 HP:0000174 Abnormality of the palate OMIM:304110 EFNB1 1947 HP:0000248 Brachycephaly OMIM:304110 EFNB1 1947 HP:0001382 Joint hypermobility OMIM:304110 EFNB1 1947 HP:0000470 Short neck OMIM:304110 EFNB1 1947 HP:0000457 Depressed nasal ridge OMIM:304110 EFNB1 1947 HP:0005278 Hypoplastic nasal tip OMIM:304110 EFNB1 1947 HP:0001363 Craniosynostosis OMIM:304110 EFNB1 1947 HP:0100543 Cognitive impairment OMIM:304110 EFNB1 1947 HP:0002224 Woolly hair OMIM:304110 EFNB1 1947 HP:0000047 Hypospadias OMIM:304110 EFNB1 1947 HP:0000506 Telecanthus OMIM:304110 EFNB1 1947 HP:0100627 Displacement of the external urethral meatus OMIM:304110 EFNB1 1947 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:304110 EFNB1 1947 HP:0000639 Nystagmus OMIM:304110 EFNB1 1947 HP:0000474 Thickened nuchal skin fold OMIM:304110 EFNB1 1947 HP:0100490 Camptodactyly of finger OMIM:304110 EFNB1 1947 HP:0010055 Broad hallux OMIM:304110 EFNB1 1947 HP:0000204 Cleft upper lip OMIM:211530 SLC52A3 113278 HP:0010628 Facial palsy OMIM:211530 SLC52A3 113278 HP:0002808 Kyphosis OMIM:211530 SLC52A3 113278 HP:0002015 Dysphagia OMIM:211530 SLC52A3 113278 HP:0000467 Neck muscle weakness OMIM:211530 SLC52A3 113278 HP:0001308 Tongue fasciculations OMIM:211530 SLC52A3 113278 HP:0003621 Juvenile onset OMIM:211530 SLC52A3 113278 HP:0000544 External ophthalmoplegia OMIM:211530 SLC52A3 113278 HP:0003701 Proximal muscle weakness OMIM:211530 SLC52A3 113278 HP:0009830 Peripheral neuropathy OMIM:211530 SLC52A3 113278 HP:0000508 Ptosis OMIM:211530 SLC52A3 113278 HP:0000407 Sensorineural hearing impairment OMIM:211530 SLC52A3 113278 HP:0000007 Autosomal recessive inheritance OMIM:211530 SLC52A3 113278 HP:0011448 Ankle clonus OMIM:211530 SLC52A3 113278 HP:0002058 Myopathic facies OMIM:211530 SLC52A3 113278 HP:0011449 Knee clonus OMIM:211530 SLC52A3 113278 HP:0010307 Stridor OMIM:211530 SLC52A3 113278 HP:0007097 Cranial nerve motor loss OMIM:211530 SLC52A3 113278 HP:0002650 Scoliosis OMIM:211530 SLC52A3 113278 HP:0009130 Hand muscle atrophy OMIM:211530 SLC52A3 113278 HP:0001283 Bulbar palsy OMIM:211530 SLC52A3 113278 HP:0002094 Dyspnea OMIM:211530 SLC52A3 113278 HP:0002312 Clumsiness OMIM:211530 SLC52A3 113278 HP:0003676 Progressive disorder OMIM:211530 SLC52A3 113278 HP:0009113 Diaphragmatic weakness OMIM:211530 SLC52A3 113278 HP:0001251 Ataxia OMIM:211530 SLC52A3 113278 HP:0001252 Muscular hypotonia OMIM:211530 SLC52A3 113278 HP:0012473 Tongue atrophy OMIM:211530 SLC52A3 113278 HP:0002205 Recurrent respiratory infections OMIM:211530 SLC52A3 113278 HP:0002877 Nocturnal hypoventilation OMIM:211530 SLC52A3 113278 HP:0001605 Vocal cord paralysis OMIM:211530 SLC52A3 113278 HP:0001621 Weak voice OMIM:610713 HOXD13 3239 HP:0001770 Toe syndactyly OMIM:610713 HOXD13 3239 HP:0001156 Brachydactyly syndrome OMIM:610713 HOXD13 3239 HP:0001163 Abnormality of the metacarpal bones OMIM:610713 HOXD13 3239 HP:0001831 Short toe OMIM:610713 HOXD13 3239 HP:0001822 Hallux valgus OMIM:610713 HOXD13 3239 HP:0009773 Symphalangism affecting the phalanges of the hand OMIM:609923 TOPORS 10210 HP:0001123 Visual field defect OMIM:609923 TOPORS 10210 HP:0000510 Retinitis pigmentosa OMIM:609923 TOPORS 10210 HP:0007843 Attenuation of retinal blood vessels OMIM:609923 TOPORS 10210 HP:0000006 Autosomal dominant inheritance OMIM:609923 TOPORS 10210 HP:0007698 Retinal pigment epithelial atrophy OMIM:609923 TOPORS 10210 HP:0000512 Abnormal electroretinogram OMIM:604559 TRPM4 54795 HP:0005165 Shortened PR interval OMIM:604559 TRPM4 54795 HP:0011711 Left anterior fascicular block OMIM:604559 TRPM4 54795 HP:0001657 Prolonged QT interval OMIM:604559 TRPM4 54795 HP:0001279 Syncope OMIM:604559 TRPM4 54795 HP:0001662 Bradycardia OMIM:604559 TRPM4 54795 HP:0000006 Autosomal dominant inheritance OMIM:255995 STAC3 246329 HP:0000028 Cryptorchidism OMIM:255995 STAC3 246329 HP:0000581 Blepharophimosis OMIM:255995 STAC3 246329 HP:0001324 Muscle weakness OMIM:255995 STAC3 246329 HP:0000508 Ptosis OMIM:255995 STAC3 246329 HP:0001371 Flexion contracture OMIM:255995 STAC3 246329 HP:0002119 Ventriculomegaly OMIM:255995 STAC3 246329 HP:0005775 Multiple skeletal anomalies OMIM:255995 STAC3 246329 HP:0000506 Telecanthus OMIM:255995 STAC3 246329 HP:0001249 Intellectual disability OMIM:255995 STAC3 246329 HP:0011968 Feeding difficulties OMIM:255995 STAC3 246329 HP:0000175 Cleft palate OMIM:255995 STAC3 246329 HP:0002751 Kyphoscoliosis OMIM:255995 STAC3 246329 HP:0000369 Low-set ears OMIM:255995 STAC3 246329 HP:0000347 Micrognathia OMIM:255995 STAC3 246329 HP:0002111 Restrictive respiratory insufficiency OMIM:255995 STAC3 246329 HP:0001883 Talipes OMIM:255995 STAC3 246329 HP:0002047 Malignant hyperthermia OMIM:255995 STAC3 246329 HP:0000218 High palate OMIM:255995 STAC3 246329 HP:0003202 Skeletal muscle atrophy OMIM:255995 STAC3 246329 HP:0001265 Hyporeflexia OMIM:255995 STAC3 246329 HP:0000007 Autosomal recessive inheritance OMIM:255995 STAC3 246329 HP:0002058 Myopathic facies OMIM:255995 STAC3 246329 HP:0012745 Short palpebral fissure OMIM:255995 STAC3 246329 HP:0004322 Short stature OMIM:255995 STAC3 246329 HP:0002714 Downturned corners of mouth OMIM:255995 STAC3 246329 HP:0000494 Downslanted palpebral fissures OMIM:611369 PIP5K1C 23396 HP:0003811 Neonatal death OMIM:611369 PIP5K1C 23396 HP:0000007 Autosomal recessive inheritance OMIM:611369 PIP5K1C 23396 HP:0002804 Arthrogryposis multiplex congenita OMIM:611369 PIP5K1C 23396 HP:0002093 Respiratory insufficiency OMIM:611369 PIP5K1C 23396 HP:0003202 Skeletal muscle atrophy OMIM:613075 RIN2 54453 HP:0002110 Bronchiectasis OMIM:613075 RIN2 54453 HP:0000535 Sparse eyebrow OMIM:613075 RIN2 54453 HP:0000179 Thick lower lip vermilion OMIM:613075 RIN2 54453 HP:0040079 Irregular dentition OMIM:613075 RIN2 54453 HP:0000815 Hypergonadotropic hypogonadism OMIM:613075 RIN2 54453 HP:0000766 Abnormality of the sternum OMIM:613075 RIN2 54453 HP:0008070 Sparse hair OMIM:613075 RIN2 54453 HP:0001620 High pitched voice OMIM:613075 RIN2 54453 HP:0002650 Scoliosis OMIM:613075 RIN2 54453 HP:0100540 Palpebral edema OMIM:613075 RIN2 54453 HP:0000974 Hyperextensible skin OMIM:613075 RIN2 54453 HP:0000954 Single transverse palmar crease OMIM:613075 RIN2 54453 HP:0000218 High palate OMIM:613075 RIN2 54453 HP:0000978 Bruising susceptibility OMIM:613075 RIN2 54453 HP:0001156 Brachydactyly syndrome OMIM:613075 RIN2 54453 HP:0003010 Prolonged bleeding time OMIM:613075 RIN2 54453 HP:0001252 Muscular hypotonia OMIM:613075 RIN2 54453 HP:0008661 Urethral stenosis OMIM:613075 RIN2 54453 HP:0000007 Autosomal recessive inheritance OMIM:613075 RIN2 54453 HP:0008064 Ichthyosis OMIM:613075 RIN2 54453 HP:0001763 Pes planus OMIM:613075 RIN2 54453 HP:0000939 Osteoporosis OMIM:613075 RIN2 54453 HP:0001537 Umbilical hernia OMIM:613075 RIN2 54453 HP:0004322 Short stature OMIM:613075 RIN2 54453 HP:0001382 Joint hypermobility OMIM:613075 RIN2 54453 HP:0001596 Alopecia OMIM:613075 RIN2 54453 HP:0000028 Cryptorchidism OMIM:613075 RIN2 54453 HP:0000280 Coarse facial features OMIM:613075 RIN2 54453 HP:0004325 Decreased body weight OMIM:613075 RIN2 54453 HP:0000212 Gingival overgrowth OMIM:613075 RIN2 54453 HP:0000494 Downslanted palpebral fissures OMIM:300004 ARX 170302 HP:0004322 Short stature OMIM:300004 ARX 170302 HP:0000280 Coarse facial features OMIM:300004 ARX 170302 HP:0000252 Microcephaly OMIM:300004 ARX 170302 HP:0006887 Intellectual disability, progressive OMIM:300004 ARX 170302 HP:0000377 Abnormality of the pinna OMIM:300004 ARX 170302 HP:0001182 Tapered finger OMIM:300004 ARX 170302 HP:0008678 Renal hypoplasia/aplasia OMIM:300004 ARX 170302 HP:0000648 Optic atrophy OMIM:300004 ARX 170302 HP:0002510 Spastic tetraplegia OMIM:300004 ARX 170302 HP:0002120 Cerebral cortical atrophy OMIM:300004 ARX 170302 HP:0000336 Prominent supraorbital ridges OMIM:300004 ARX 170302 HP:0001090 Large eyes OMIM:300004 ARX 170302 HP:0000187 Broad alveolar ridges OMIM:300004 ARX 170302 HP:0000047 Hypospadias OMIM:300004 ARX 170302 HP:0002445 Tetraplegia OMIM:300004 ARX 170302 HP:0001845 Overlapping toe OMIM:300004 ARX 170302 HP:0001274 Agenesis of corpus callosum OMIM:300004 ARX 170302 HP:0001263 Global developmental delay OMIM:300004 ARX 170302 HP:0000998 Hypertrichosis OMIM:300004 ARX 170302 HP:0000664 Synophrys OMIM:300004 ARX 170302 HP:0001795 Hyperconvex nail OMIM:300004 ARX 170302 HP:0001319 Neonatal hypotonia OMIM:300004 ARX 170302 HP:0001007 Hirsutism OMIM:300004 ARX 170302 HP:0000486 Strabismus OMIM:300004 ARX 170302 HP:0002650 Scoliosis OMIM:300004 ARX 170302 HP:0100627 Displacement of the external urethral meatus OMIM:300004 ARX 170302 HP:0001250 Seizures OMIM:300004 ARX 170302 HP:0003121 Limb joint contracture OMIM:300004 ARX 170302 HP:0000294 Low anterior hairline OMIM:300004 ARX 170302 HP:0000028 Cryptorchidism OMIM:300004 ARX 170302 HP:0100543 Cognitive impairment OMIM:300004 ARX 170302 HP:0000505 Visual impairment OMIM:300004 ARX 170302 HP:0000639 Nystagmus OMIM:300004 ARX 170302 HP:0004299 Hernia of the abdominal wall OMIM:300004 ARX 170302 HP:0000411 Protruding ear OMIM:300004 ARX 170302 HP:0004374 Hemiplegia/hemiparesis OMIM:300004 ARX 170302 HP:0000110 Renal dysplasia OMIM:300004 ARX 170302 HP:0003272 Abnormality of the hip bone OMIM:300004 ARX 170302 HP:0001417 X-linked inheritance OMIM:300004 ARX 170302 HP:0000218 High palate OMIM:300004 ARX 170302 HP:0010864 Intellectual disability, severe OMIM:612278 IRGM 345611 HP:0002037 Inflammation of the large intestine OMIM:615160 UQCRC2 7385 HP:0002151 Increased serum lactate OMIM:615160 UQCRC2 7385 HP:0001942 Metabolic acidosis OMIM:615160 UQCRC2 7385 HP:0001943 Hypoglycemia OMIM:615160 UQCRC2 7385 HP:0003542 Increased serum pyruvate OMIM:615160 UQCRC2 7385 HP:0000007 Autosomal recessive inheritance OMIM:615160 UQCRC2 7385 HP:0001987 Hyperammonemia OMIM:616398 KCTD17 79734 HP:0000739 Anxiety OMIM:616398 KCTD17 79734 HP:0001336 Myoclonus OMIM:616398 KCTD17 79734 HP:0000473 Torticollis OMIM:616398 KCTD17 79734 HP:0001260 Dysarthria OMIM:616398 KCTD17 79734 HP:0000643 Blepharospasm OMIM:616398 KCTD17 79734 HP:0012049 Laryngeal dystonia OMIM:613587 RP1L1 94137 HP:0007754 Macular dystrophy OMIM:613587 RP1L1 94137 HP:0000006 Autosomal dominant inheritance OMIM:613587 RP1L1 94137 HP:0007924 Slow decrease in visual acuity OMIM:180200 RB1 5925 HP:0009919 Retinoblastoma OMIM:180200 RB1 5925 HP:0012254 Ewing's sarcoma OMIM:180200 RB1 5925 HP:0007862 Retinal calcification OMIM:180200 RB1 5925 HP:0000006 Autosomal dominant inheritance OMIM:180200 RB1 5925 HP:0002669 Osteosarcoma OMIM:180200 RB1 5925 HP:0000555 Leukocoria OMIM:180200 RB1 5925 HP:0007902 Vitreous hemorrhage OMIM:180200 RB1 5925 HP:0000175 Cleft palate OMIM:180200 RB1 5925 HP:0001909 Leukemia OMIM:180200 RB1 5925 HP:0003745 Sporadic OMIM:180200 RB1 5925 HP:0002665 Lymphoma OMIM:180200 RB1 5925 HP:0001428 Somatic mutation OMIM:613783 C1S 716 HP:0012115 Hepatitis OMIM:613783 C1S 716 HP:0000872 Hashimoto thyroiditis OMIM:613783 C1S 716 HP:0005339 Abnormality of complement system OMIM:613783 C1S 716 HP:0002725 Systemic lupus erythematosus OMIM:603622 MYH9 4627 HP:0000006 Autosomal dominant inheritance OMIM:603622 MYH9 4627 HP:0003621 Juvenile onset OMIM:603622 MYH9 4627 HP:0005101 High-frequency hearing impairment OMIM:600059 PRPF8 10594 HP:0000546 Retinal degeneration OMIM:600059 PRPF8 10594 HP:0001133 Constricted visual fields OMIM:600059 PRPF8 10594 HP:0000662 Night blindness OMIM:600059 PRPF8 10594 HP:0000510 Retinitis pigmentosa OMIM:600059 PRPF8 10594 HP:0001487 Hypopigmented fundi OMIM:613955 IL31RA 133396 HP:0000989 Pruritus OMIM:613955 IL31RA 133396 HP:0000006 Autosomal dominant inheritance OMIM:613955 IL31RA 133396 HP:0012309 Cutaneous amyloidosis ORPHANET:300865 TYK2 7297 HP:0000989 Pruritus ORPHANET:300865 TYK2 7297 HP:0000975 Hyperhidrosis ORPHANET:300865 TYK2 7297 HP:0001824 Weight loss ORPHANET:300865 TYK2 7297 HP:0002665 Lymphoma ORPHANET:300865 TYK2 7297 HP:0002716 Lymphadenopathy ORPHANET:300865 TYK2 7297 HP:0200042 Skin ulcer ORPHANET:300865 NPM1 4869 HP:0000989 Pruritus ORPHANET:300865 NPM1 4869 HP:0000975 Hyperhidrosis ORPHANET:300865 NPM1 4869 HP:0001824 Weight loss ORPHANET:300865 NPM1 4869 HP:0002665 Lymphoma ORPHANET:300865 NPM1 4869 HP:0002716 Lymphadenopathy ORPHANET:300865 NPM1 4869 HP:0200042 Skin ulcer OMIM:613983 PRPF6 24148 HP:0000006 Autosomal dominant inheritance OMIM:613983 PRPF6 24148 HP:0000505 Visual impairment OMIM:613983 PRPF6 24148 HP:0000510 Retinitis pigmentosa OMIM:613179 PNP 4860 HP:0001744 Splenomegaly OMIM:613179 PNP 4860 HP:0000708 Behavioral abnormality OMIM:613179 PNP 4860 HP:0002732 Lymph node hypoplasia OMIM:613179 PNP 4860 HP:0001264 Spastic diplegia OMIM:613179 PNP 4860 HP:0001252 Muscular hypotonia OMIM:613179 PNP 4860 HP:0002665 Lymphoma OMIM:613179 PNP 4860 HP:0002788 Recurrent upper respiratory tract infections OMIM:613179 PNP 4860 HP:0003537 Hypouricemia OMIM:613179 PNP 4860 HP:0000010 Recurrent urinary tract infections OMIM:613179 PNP 4860 HP:0005409 Markedly reduced T cell function OMIM:613179 PNP 4860 HP:0002718 Recurrent bacterial infections OMIM:613179 PNP 4860 HP:0004429 Recurrent viral infections OMIM:613179 PNP 4860 HP:0001337 Tremor OMIM:613179 PNP 4860 HP:0001904 Autoimmune neutropenia OMIM:613179 PNP 4860 HP:0000246 Sinusitis OMIM:613179 PNP 4860 HP:0001890 Autoimmune hemolytic anemia OMIM:613179 PNP 4860 HP:0001249 Intellectual disability OMIM:613179 PNP 4860 HP:0002783 Recurrent lower respiratory tract infections OMIM:613179 PNP 4860 HP:0001251 Ataxia OMIM:613179 PNP 4860 HP:0005318 Cerebral vasculitis OMIM:613179 PNP 4860 HP:0000388 Otitis media OMIM:613179 PNP 4860 HP:0002090 Pneumonia OMIM:613179 PNP 4860 HP:0005390 Recurrent opportunistic infections OMIM:613179 PNP 4860 HP:0001270 Motor delay OMIM:613179 PNP 4860 HP:0005372 Abnormality of B cell physiology OMIM:613179 PNP 4860 HP:0001508 Failure to thrive OMIM:613179 PNP 4860 HP:0002273 Tetraparesis OMIM:613179 PNP 4860 HP:0001888 Lymphopenia OMIM:613179 PNP 4860 HP:0000007 Autosomal recessive inheritance OMIM:613179 PNP 4860 HP:0001973 Autoimmune thrombocytopenia OMIM:615577 NFKB2 4791 HP:0011734 Central adrenal insufficiency OMIM:615577 NFKB2 4791 HP:0002721 Immunodeficiency OMIM:615577 NFKB2 4791 HP:0001596 Alopecia OMIM:615577 NFKB2 4791 HP:0001263 Global developmental delay OMIM:615577 NFKB2 4791 HP:0008404 Nail dystrophy OMIM:615577 NFKB2 4791 HP:0002205 Recurrent respiratory infections OMIM:615577 NFKB2 4791 HP:0004313 Hypogammaglobulinemia OMIM:615577 NFKB2 4791 HP:0000824 Growth hormone deficiency OMIM:615577 NFKB2 4791 HP:0002099 Asthma OMIM:615577 NFKB2 4791 HP:0000006 Autosomal dominant inheritance OMIM:604173 USB1 79650 HP:0000509 Conjunctivitis OMIM:604173 USB1 79650 HP:0000498 Blepharitis OMIM:604173 USB1 79650 HP:0000403 Recurrent otitis media OMIM:604173 USB1 79650 HP:0006532 Recurrent pneumonia OMIM:604173 USB1 79650 HP:0004322 Short stature OMIM:604173 USB1 79650 HP:0001029 Poikiloderma OMIM:604173 USB1 79650 HP:0000272 Malar flattening OMIM:604173 USB1 79650 HP:0001744 Splenomegaly OMIM:604173 USB1 79650 HP:0001875 Neutropenia OMIM:604173 USB1 79650 HP:0000007 Autosomal recessive inheritance OMIM:604173 USB1 79650 HP:0011800 Midface retrusion OMIM:604173 USB1 79650 HP:0000316 Hypertelorism OMIM:122000 VSX1 30813 HP:0000501 Glaucoma OMIM:122000 VSX1 30813 HP:0000006 Autosomal dominant inheritance OMIM:122000 VSX1 30813 HP:0000491 Keratitis OMIM:122000 VSX1 30813 HP:0001131 Corneal dystrophy OMIM:122000 VSX1 30813 HP:0001513 Obesity OMIM:122000 VSX1 30813 HP:0007915 Polymorphous posterior corneal dystrophy OMIM:122000 VSX1 30813 HP:0000687 Widely spaced teeth OMIM:130900 FAM83H 286077 HP:0000689 Dental malocclusion OMIM:130900 FAM83H 286077 HP:0000006 Autosomal dominant inheritance OMIM:130900 FAM83H 286077 HP:0000705 Amelogenesis imperfecta OMIM:130900 FAM83H 286077 HP:0200095 Anterior open bite OMIM:301900 PHF6 84295 HP:0004322 Short stature OMIM:301900 PHF6 84295 HP:0011362 Abnormal hair quantity OMIM:301900 PHF6 84295 HP:0003202 Skeletal muscle atrophy OMIM:301900 PHF6 84295 HP:0000202 Oral cleft OMIM:301900 PHF6 84295 HP:0008094 Widely spaced toes OMIM:301900 PHF6 84295 HP:0008687 Hypoplasia of the prostate OMIM:301900 PHF6 84295 HP:0002684 Thickened calvaria OMIM:301900 PHF6 84295 HP:0008445 Cervical spinal canal stenosis OMIM:301900 PHF6 84295 HP:0001250 Seizures OMIM:301900 PHF6 84295 HP:0000252 Microcephaly OMIM:301900 PHF6 84295 HP:0001831 Short toe OMIM:301900 PHF6 84295 HP:0006118 Shortening of all distal phalanges of the fingers OMIM:301900 PHF6 84295 HP:0006110 Shortening of all middle phalanges of the fingers OMIM:301900 PHF6 84295 HP:0000054 Micropenis OMIM:301900 PHF6 84295 HP:0001419 X-linked recessive inheritance OMIM:301900 PHF6 84295 HP:0009748 Large earlobe OMIM:301900 PHF6 84295 HP:0000508 Ptosis OMIM:301900 PHF6 84295 HP:0000046 Scrotal hypoplasia OMIM:301900 PHF6 84295 HP:0000336 Prominent supraorbital ridges OMIM:301900 PHF6 84295 HP:0000490 Deeply set eye OMIM:301900 PHF6 84295 HP:0001382 Joint hypermobility OMIM:301900 PHF6 84295 HP:0000639 Nystagmus OMIM:301900 PHF6 84295 HP:0100543 Cognitive impairment OMIM:301900 PHF6 84295 HP:0009830 Peripheral neuropathy OMIM:301900 PHF6 84295 HP:0000028 Cryptorchidism OMIM:301900 PHF6 84295 HP:0000256 Macrocephaly OMIM:301900 PHF6 84295 HP:0001513 Obesity OMIM:301900 PHF6 84295 HP:0003272 Abnormality of the hip bone OMIM:301900 PHF6 84295 HP:0000518 Cataract OMIM:301900 PHF6 84295 HP:0000365 Hearing impairment OMIM:301900 PHF6 84295 HP:0002353 EEG abnormality OMIM:301900 PHF6 84295 HP:0001182 Tapered finger OMIM:301900 PHF6 84295 HP:0000823 Delayed puberty OMIM:301900 PHF6 84295 HP:0000400 Macrotia OMIM:301900 PHF6 84295 HP:0002808 Kyphosis OMIM:301900 PHF6 84295 HP:0000771 Gynecomastia OMIM:301900 PHF6 84295 HP:0000581 Blepharophimosis OMIM:301900 PHF6 84295 HP:0001769 Broad foot OMIM:301900 PHF6 84295 HP:0000280 Coarse facial features OMIM:301900 PHF6 84295 HP:0008478 Scheuermann-like vertebral changes OMIM:301900 PHF6 84295 HP:0002650 Scoliosis OMIM:301900 PHF6 84295 HP:0010864 Intellectual disability, severe OMIM:301900 PHF6 84295 HP:0001252 Muscular hypotonia OMIM:301900 PHF6 84295 HP:0001836 Camptodactyly of toe OMIM:301900 PHF6 84295 HP:0000505 Visual impairment OMIM:301900 PHF6 84295 HP:0000574 Thick eyebrow OMIM:301900 PHF6 84295 HP:0008736 Hypoplasia of penis OMIM:301900 PHF6 84295 HP:0001956 Truncal obesity OMIM:277170 C5ORF42 65250 HP:0002444 Hypothalamic hamartoma OMIM:277170 C5ORF42 65250 HP:0000218 High palate OMIM:277170 C5ORF42 65250 HP:0000204 Cleft upper lip OMIM:277170 C5ORF42 65250 HP:0000316 Hypertelorism OMIM:277170 C5ORF42 65250 HP:0001508 Failure to thrive OMIM:277170 C5ORF42 65250 HP:0001841 Preaxial foot polydactyly OMIM:277170 C5ORF42 65250 HP:0000286 Epicanthus OMIM:277170 C5ORF42 65250 HP:0001177 Preaxial hand polydactyly OMIM:277170 C5ORF42 65250 HP:0002419 Molar tooth sign on MRI OMIM:277170 C5ORF42 65250 HP:0000110 Renal dysplasia OMIM:277170 C5ORF42 65250 HP:0006159 Mesoaxial hand polydactyly OMIM:277170 C5ORF42 65250 HP:0000405 Conductive hearing impairment OMIM:277170 C5ORF42 65250 HP:0000639 Nystagmus OMIM:277170 C5ORF42 65250 HP:0001263 Global developmental delay OMIM:277170 C5ORF42 65250 HP:0000104 Renal agenesis OMIM:277170 C5ORF42 65250 HP:0000175 Cleft palate OMIM:277170 C5ORF42 65250 HP:0000007 Autosomal recessive inheritance OMIM:277170 C5ORF42 65250 HP:0000358 Posteriorly rotated ears OMIM:277170 C5ORF42 65250 HP:0000191 Accessory oral frenulum OMIM:277170 C5ORF42 65250 HP:0006145 Central Y-shaped metacarpal OMIM:277170 C5ORF42 65250 HP:0001770 Toe syndactyly OMIM:277170 C5ORF42 65250 HP:0001320 Cerebellar vermis hypoplasia OMIM:277170 C5ORF42 65250 HP:0001252 Muscular hypotonia OMIM:277170 C5ORF42 65250 HP:0001156 Brachydactyly syndrome OMIM:277170 C5ORF42 65250 HP:0100259 Postaxial polydactyly OMIM:277170 C5ORF42 65250 HP:0009466 Radial deviation of finger OMIM:277170 C5ORF42 65250 HP:0004322 Short stature OMIM:277170 C5ORF42 65250 HP:0000369 Low-set ears OMIM:277170 C5ORF42 65250 HP:0000347 Micrognathia OMIM:277170 C5ORF42 65250 HP:0000455 Broad nasal tip OMIM:277170 C5ORF42 65250 HP:0000565 Esotropia OMIM:277170 C5ORF42 65250 HP:0030084 Clinodactyly OMIM:277170 C5ORF42 65250 HP:0001249 Intellectual disability OMIM:613076 GFER 2671 HP:0000007 Autosomal recessive inheritance OMIM:613076 GFER 2671 HP:0003198 Myopathy OMIM:613076 GFER 2671 HP:0000518 Cataract OMIM:613076 GFER 2671 HP:0008972 Decreased activity of mitochondrial respiratory chain OMIM:613076 GFER 2671 HP:0000407 Sensorineural hearing impairment OMIM:613076 GFER 2671 HP:0001263 Global developmental delay OMIM:615704 FAM111B 374393 HP:0001029 Poikiloderma OMIM:615704 FAM111B 374393 HP:0000966 Hypohidrosis OMIM:615704 FAM111B 374393 HP:0002650 Scoliosis OMIM:615704 FAM111B 374393 HP:0001055 Erysipelas OMIM:615704 FAM111B 374393 HP:0000823 Delayed puberty OMIM:615704 FAM111B 374393 HP:0003202 Skeletal muscle atrophy OMIM:615704 FAM111B 374393 HP:0001596 Alopecia OMIM:615704 FAM111B 374393 HP:0002164 Nail dysplasia OMIM:615704 FAM111B 374393 HP:0003236 Elevated serum creatine phosphokinase OMIM:615704 FAM111B 374393 HP:0000518 Cataract OMIM:615704 FAM111B 374393 HP:0000006 Autosomal dominant inheritance OMIM:602082 TGFBI 7045 HP:0000006 Autosomal dominant inheritance OMIM:602082 TGFBI 7045 HP:0001131 Corneal dystrophy OMIM:602082 TGFBI 7045 HP:0007755 Juvenile epithelial corneal dystrophy OMIM:602082 TGFBI 7045 HP:0000613 Photophobia OMIM:602082 TGFBI 7045 HP:0000559 Corneal scarring OMIM:123400 PRNP 5621 HP:0003678 Rapidly progressive OMIM:123400 PRNP 5621 HP:0002381 Aphasia OMIM:123400 PRNP 5621 HP:0000505 Visual impairment OMIM:123400 PRNP 5621 HP:0002922 Increased CSF protein OMIM:123400 PRNP 5621 HP:0001289 Confusion OMIM:123400 PRNP 5621 HP:0005327 Loss of facial expression OMIM:123400 PRNP 5621 HP:0000726 Dementia OMIM:123400 PRNP 5621 HP:0000751 Personality changes OMIM:123400 PRNP 5621 HP:0000716 Depression OMIM:123400 PRNP 5621 HP:0000746 Delusions OMIM:123400 PRNP 5621 HP:0002066 Gait ataxia OMIM:123400 PRNP 5621 HP:0007076 Extrapyramidal muscular rigidity OMIM:123400 PRNP 5621 HP:0000738 Hallucinations OMIM:123400 PRNP 5621 HP:0000737 Irritability OMIM:123400 PRNP 5621 HP:0001269 Hemiparesis OMIM:123400 PRNP 5621 HP:0000741 Apathy OMIM:123400 PRNP 5621 HP:0001336 Myoclonus OMIM:123400 PRNP 5621 HP:0000605 Supranuclear gaze palsy OMIM:123400 PRNP 5621 HP:0002354 Memory impairment OMIM:123400 PRNP 5621 HP:0000739 Anxiety OMIM:123400 PRNP 5621 HP:0000006 Autosomal dominant inheritance ORPHANET:35093 ALX4 60529 HP:0000269 Prominent occiput ORPHANET:35093 ALX4 60529 HP:0000268 Dolichocephaly ORPHANET:35093 ALX4 60529 HP:0002007 Frontal bossing ORPHANET:35093 ALX4 60529 HP:0002516 Increased intracranial pressure ORPHANET:35093 TWIST1 7291 HP:0000269 Prominent occiput ORPHANET:35093 TWIST1 7291 HP:0000268 Dolichocephaly ORPHANET:35093 TWIST1 7291 HP:0002007 Frontal bossing ORPHANET:35093 TWIST1 7291 HP:0002516 Increased intracranial pressure ORPHANET:35093 ERF 2077 HP:0000269 Prominent occiput ORPHANET:35093 ERF 2077 HP:0000268 Dolichocephaly ORPHANET:35093 ERF 2077 HP:0002007 Frontal bossing ORPHANET:35093 ERF 2077 HP:0002516 Increased intracranial pressure OMIM:614173 TCTN1 79600 HP:0000007 Autosomal recessive inheritance OMIM:614173 TCTN1 79600 HP:0001320 Cerebellar vermis hypoplasia OMIM:106600 MSX1 4487 HP:0000668 Hypodontia OMIM:106600 MSX1 4487 HP:0000006 Autosomal dominant inheritance OMIM:239000 TNFRSF11B 4982 HP:0000995 Melanocytic nevus OMIM:239000 TNFRSF11B 4982 HP:0001324 Muscle weakness OMIM:239000 TNFRSF11B 4982 HP:0000365 Hearing impairment OMIM:239000 TNFRSF11B 4982 HP:0003080 Hydroxyprolinuria OMIM:239000 TNFRSF11B 4982 HP:0000889 Abnormality of the clavicle OMIM:239000 TNFRSF11B 4982 HP:0001102 Angioid streaks of the retina OMIM:239000 TNFRSF11B 4982 HP:0006487 Bowing of the long bones OMIM:239000 TNFRSF11B 4982 HP:0000256 Macrocephaly OMIM:239000 TNFRSF11B 4982 HP:0000007 Autosomal recessive inheritance OMIM:239000 TNFRSF11B 4982 HP:0004349 Reduced bone mineral density OMIM:239000 TNFRSF11B 4982 HP:0004493 Craniofacial hyperostosis OMIM:239000 TNFRSF11B 4982 HP:0100670 Rough bone trabeculation OMIM:239000 TNFRSF11B 4982 HP:0000648 Optic atrophy OMIM:239000 TNFRSF11B 4982 HP:0000939 Osteoporosis OMIM:239000 TNFRSF11B 4982 HP:0002149 Hyperuricemia OMIM:239000 TNFRSF11B 4982 HP:0003148 Elevated serum acid phosphatase OMIM:239000 TNFRSF11B 4982 HP:0004322 Short stature OMIM:239000 TNFRSF11B 4982 HP:0002757 Recurrent fractures OMIM:239000 TNFRSF11B 4982 HP:0000164 Abnormality of the teeth OMIM:239000 TNFRSF11B 4982 HP:0003260 Hydroxyprolinemia OMIM:239000 TNFRSF11B 4982 HP:0000546 Retinal degeneration OMIM:239000 TNFRSF11B 4982 HP:0000768 Pectus carinatum OMIM:239000 TNFRSF11B 4982 HP:0006480 Premature loss of teeth OMIM:239000 TNFRSF11B 4982 HP:0002684 Thickened calvaria OMIM:239000 TNFRSF11B 4982 HP:0002905 Hyperphosphatemia OMIM:239000 TNFRSF11B 4982 HP:0007703 Abnormal retinal pigmentation OMIM:239000 TNFRSF11B 4982 HP:0000822 Hypertension OMIM:615607 CD3G 917 HP:0002721 Immunodeficiency OMIM:615607 CD3G 917 HP:0002242 Abnormality of the intestine OMIM:615607 CD3G 917 HP:0000007 Autosomal recessive inheritance OMIM:615607 CD3G 917 HP:0003828 Variable expressivity OMIM:615607 CD3G 917 HP:0002205 Recurrent respiratory infections OMIM:615607 CD3G 917 HP:0001890 Autoimmune hemolytic anemia OMIM:615607 CD3G 917 HP:0001508 Failure to thrive OMIM:615607 CD3G 917 HP:0000964 Eczema OMIM:109800 RB1 5925 HP:0006740 Transitional cell carcinoma of the bladder OMIM:109800 RB1 5925 HP:0000006 Autosomal dominant inheritance OMIM:109800 FGFR3 2261 HP:0006740 Transitional cell carcinoma of the bladder OMIM:109800 FGFR3 2261 HP:0000006 Autosomal dominant inheritance OMIM:109800 KRAS 3845 HP:0006740 Transitional cell carcinoma of the bladder OMIM:109800 KRAS 3845 HP:0000006 Autosomal dominant inheritance OMIM:614935 LRRC6 23639 HP:0012384 Rhinitis OMIM:614935 LRRC6 23639 HP:0000007 Autosomal recessive inheritance OMIM:614935 LRRC6 23639 HP:0012263 Immotile cilia OMIM:614935 LRRC6 23639 HP:0100582 Nasal polyposis OMIM:614935 LRRC6 23639 HP:0012265 Ciliary dyskinesia OMIM:614935 LRRC6 23639 HP:0011108 Recurrent sinusitis OMIM:614935 LRRC6 23639 HP:0002110 Bronchiectasis OMIM:614935 LRRC6 23639 HP:0000403 Recurrent otitis media OMIM:614935 LRRC6 23639 HP:0012259 Absent inner and outer dynein arms OMIM:614935 LRRC6 23639 HP:0004469 Chronic bronchitis OMIM:614935 LRRC6 23639 HP:0001696 Situs inversus totalis OMIM:614935 LRRC6 23639 HP:0200073 Respiratory insufficiency due to defective ciliary clearance OMIM:132700 CYLD 1540 HP:0000006 Autosomal dominant inheritance OMIM:132700 CYLD 1540 HP:0003581 Adult onset OMIM:132700 CYLD 1540 HP:0008069 Neoplasm of the skin OMIM:132700 CYLD 1540 HP:0100585 Teleangiectasia of the skin OMIM:268130 TINF2 26277 HP:0001873 Thrombocytopenia OMIM:268130 TINF2 26277 HP:0000252 Microcephaly OMIM:268130 TINF2 26277 HP:0001933 Subcutaneous hemorrhage OMIM:268130 TINF2 26277 HP:0000541 Retinal detachment OMIM:268130 TINF2 26277 HP:0001874 Abnormality of neutrophils OMIM:268130 TINF2 26277 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:268130 TINF2 26277 HP:0001276 Hypertonia OMIM:268130 TINF2 26277 HP:0001939 Abnormality of metabolism/homeostasis OMIM:268130 TINF2 26277 HP:0007898 Exudative retinopathy OMIM:268130 TINF2 26277 HP:0000555 Leukocoria OMIM:268130 TINF2 26277 HP:0001263 Global developmental delay OMIM:268130 TINF2 26277 HP:0000485 Megalocornea OMIM:268130 TINF2 26277 HP:0001321 Cerebellar hypoplasia OMIM:268130 TINF2 26277 HP:0008402 Ridged fingernail OMIM:268130 TINF2 26277 HP:0002344 Progressive neurologic deterioration OMIM:268130 TINF2 26277 HP:0001597 Abnormality of the nail OMIM:268130 TINF2 26277 HP:0001251 Ataxia OMIM:268130 TINF2 26277 HP:0000006 Autosomal dominant inheritance OMIM:268130 TINF2 26277 HP:0002514 Cerebral calcification OMIM:268130 TINF2 26277 HP:0007617 Fine, reticulate skin pigmentation OMIM:268130 TINF2 26277 HP:0002213 Fine hair OMIM:268130 TINF2 26277 HP:0003745 Sporadic OMIM:268130 TINF2 26277 HP:0001511 Intrauterine growth retardation OMIM:268130 TINF2 26277 HP:0005528 Bone marrow hypocellularity OMIM:268130 TINF2 26277 HP:0001622 Premature birth OMIM:268130 TINF2 26277 HP:0001903 Anemia OMIM:268130 TINF2 26277 HP:0001915 Aplastic anemia OMIM:268130 TINF2 26277 HP:0011362 Abnormal hair quantity OMIM:268130 TINF2 26277 HP:0002745 Oral leukoplakia OMIM:268130 TINF2 26277 HP:0008404 Nail dystrophy OMIM:268130 TINF2 26277 HP:0000163 Abnormality of the oral cavity OMIM:268130 TINF2 26277 HP:0001803 Nail pits OMIM:268130 TINF2 26277 HP:0008070 Sparse hair OMIM:268130 TINF2 26277 HP:0000639 Nystagmus OMIM:268130 TINF2 26277 HP:0008046 Abnormality of the retinal vasculature OMIM:184252 TRPV4 59341 HP:0001288 Gait disturbance OMIM:184252 TRPV4 59341 HP:0002750 Delayed skeletal maturation OMIM:184252 TRPV4 59341 HP:0000889 Abnormality of the clavicle OMIM:184252 TRPV4 59341 HP:0000926 Platyspondyly OMIM:184252 TRPV4 59341 HP:0000768 Pectus carinatum OMIM:184252 TRPV4 59341 HP:0006069 Severe carpal ossification delay OMIM:184252 TRPV4 59341 HP:0003015 Flared metaphysis OMIM:184252 TRPV4 59341 HP:0002657 Spondylometaphyseal dysplasia OMIM:184252 TRPV4 59341 HP:0001498 Carpal bone hypoplasia OMIM:184252 TRPV4 59341 HP:0002515 Waddling gait OMIM:184252 TRPV4 59341 HP:0003521 Disproportionate short-trunk short stature OMIM:184252 TRPV4 59341 HP:0002808 Kyphosis OMIM:184252 TRPV4 59341 HP:0010306 Short thorax OMIM:184252 TRPV4 59341 HP:0000348 High forehead OMIM:184252 TRPV4 59341 HP:0002857 Genu valgum OMIM:184252 TRPV4 59341 HP:0003180 Flat acetabular roof OMIM:184252 TRPV4 59341 HP:0005930 Abnormality of epiphysis morphology OMIM:184252 TRPV4 59341 HP:0001760 Abnormality of the foot OMIM:184252 TRPV4 59341 HP:0002751 Kyphoscoliosis OMIM:184252 TRPV4 59341 HP:0000470 Short neck OMIM:184252 TRPV4 59341 HP:0001156 Brachydactyly syndrome OMIM:184252 TRPV4 59341 HP:0008833 Irregular acetabular roof OMIM:184252 TRPV4 59341 HP:0001376 Limitation of joint mobility OMIM:184252 TRPV4 59341 HP:0000944 Abnormality of the metaphyses OMIM:184252 TRPV4 59341 HP:0000006 Autosomal dominant inheritance OMIM:184252 TRPV4 59341 HP:0002812 Coxa vara OMIM:184252 TRPV4 59341 HP:0001547 Abnormality of the rib cage OMIM:184252 TRPV4 59341 HP:0003311 Hypoplasia of the odontoid process OMIM:184252 TRPV4 59341 HP:0002650 Scoliosis OMIM:184252 TRPV4 59341 HP:0005280 Depressed nasal bridge OMIM:184252 TRPV4 59341 HP:0004322 Short stature OMIM:184252 TRPV4 59341 HP:0000774 Narrow chest OMIM:184252 TRPV4 59341 HP:0005042 Irregular, rachitic-like metaphyses OMIM:184252 TRPV4 59341 HP:0000271 Abnormality of the face OMIM:614228 DYNC1H1 1778 HP:0003677 Slow progression OMIM:614228 DYNC1H1 1778 HP:0002936 Distal sensory impairment OMIM:614228 DYNC1H1 1778 HP:0001270 Motor delay OMIM:614228 DYNC1H1 1778 HP:0003690 Limb muscle weakness OMIM:614228 DYNC1H1 1778 HP:0002359 Frequent falls OMIM:614228 DYNC1H1 1778 HP:0009046 Difficulty running OMIM:614228 DYNC1H1 1778 HP:0003812 Phenotypic variability OMIM:614228 DYNC1H1 1778 HP:0001265 Hyporeflexia OMIM:614228 DYNC1H1 1778 HP:0000006 Autosomal dominant inheritance OMIM:614228 DYNC1H1 1778 HP:0003431 Decreased motor nerve conduction velocity OMIM:614228 DYNC1H1 1778 HP:0001761 Pes cavus OMIM:614228 DYNC1H1 1778 HP:0002460 Distal muscle weakness OMIM:607822 PSEN1 5663 HP:0002511 Alzheimer disease OMIM:607822 PSEN1 5663 HP:0002395 Lower limb hyperreflexia OMIM:607822 PSEN1 5663 HP:0002186 Apraxia OMIM:607822 PSEN1 5663 HP:0001260 Dysarthria OMIM:607822 PSEN1 5663 HP:0001250 Seizures OMIM:607822 PSEN1 5663 HP:0010524 Agnosia OMIM:607822 PSEN1 5663 HP:0002354 Memory impairment OMIM:607822 PSEN1 5663 HP:0001332 Dystonia OMIM:607822 PSEN1 5663 HP:0002071 Abnormality of extrapyramidal motor function OMIM:607822 PSEN1 5663 HP:0002015 Dysphagia OMIM:607822 PSEN1 5663 HP:0001288 Gait disturbance OMIM:607822 PSEN1 5663 HP:0001336 Myoclonus OMIM:607822 PSEN1 5663 HP:0003581 Adult onset OMIM:607822 PSEN1 5663 HP:0000751 Personality changes OMIM:607822 PSEN1 5663 HP:0003487 Babinski sign OMIM:607822 PSEN1 5663 HP:0002120 Cerebral cortical atrophy OMIM:607822 PSEN1 5663 HP:0003678 Rapidly progressive OMIM:607822 PSEN1 5663 HP:0000726 Dementia OMIM:607822 PSEN1 5663 HP:0001285 Spastic tetraparesis OMIM:607822 PSEN1 5663 HP:0000006 Autosomal dominant inheritance OMIM:607822 PSEN1 5663 HP:0002185 Neurofibrillary tangles OMIM:601780 CLN6 54982 HP:0003208 Fingerprint intracellular accumulation of autofluorescent lipopigment storage material OMIM:601780 CLN6 54982 HP:0001250 Seizures OMIM:601780 CLN6 54982 HP:0000529 Progressive visual loss OMIM:601780 CLN6 54982 HP:0002074 Increased neuronal autofluorescent lipopigment OMIM:601780 CLN6 54982 HP:0002333 Motor deterioration OMIM:601780 CLN6 54982 HP:0000007 Autosomal recessive inheritance OMIM:601780 CLN6 54982 HP:0000546 Retinal degeneration OMIM:601780 CLN6 54982 HP:0003205 Curvilinear intracellular accumulation of autofluorescent lipopigment storage material OMIM:601780 CLN6 54982 HP:0001311 Abnormal nervous system electrophysiology OMIM:614782 FUS 2521 HP:0000006 Autosomal dominant inheritance OMIM:614782 FUS 2521 HP:0002174 Postural tremor OMIM:153670 GP1BA 2811 HP:0000421 Epistaxis OMIM:153670 GP1BA 2811 HP:0001744 Splenomegaly OMIM:153670 GP1BA 2811 HP:0000967 Petechiae OMIM:153670 GP1BA 2811 HP:0000132 Menorrhagia OMIM:153670 GP1BA 2811 HP:0000978 Bruising susceptibility OMIM:153670 GP1BA 2811 HP:0001878 Hemolytic anemia OMIM:153670 GP1BA 2811 HP:0000225 Gingival bleeding OMIM:153670 GP1BA 2811 HP:0000006 Autosomal dominant inheritance OMIM:153670 GP1BA 2811 HP:0011877 Increased mean platelet volume OMIM:153670 GP1BA 2811 HP:0004446 Stomatocytosis OMIM:153670 GP1BA 2811 HP:0006298 Prolonged bleeding after dental extraction ORPHANET:994 DOK7 285489 HP:0005280 Depressed nasal bridge ORPHANET:994 DOK7 285489 HP:0002650 Scoliosis ORPHANET:994 DOK7 285489 HP:0000028 Cryptorchidism ORPHANET:994 DOK7 285489 HP:0001059 Pterygium ORPHANET:994 DOK7 285489 HP:0001376 Limitation of joint mobility ORPHANET:994 DOK7 285489 HP:0001305 Dandy-Walker malformation ORPHANET:994 DOK7 285489 HP:0100490 Camptodactyly of finger ORPHANET:994 DOK7 285489 HP:0002804 Arthrogryposis multiplex congenita ORPHANET:994 DOK7 285489 HP:0000476 Cystic hygroma ORPHANET:994 DOK7 285489 HP:0006703 Aplasia/Hypoplasia of the lungs ORPHANET:994 DOK7 285489 HP:0002093 Respiratory insufficiency ORPHANET:994 DOK7 285489 HP:0001557 Prenatal movement abnormality ORPHANET:994 DOK7 285489 HP:0001561 Polyhydramnios ORPHANET:994 DOK7 285489 HP:0001511 Intrauterine growth retardation ORPHANET:994 DOK7 285489 HP:0003202 Skeletal muscle atrophy ORPHANET:994 DOK7 285489 HP:0100022 Abnormality of movement ORPHANET:994 DOK7 285489 HP:0001883 Talipes ORPHANET:994 DOK7 285489 HP:0000347 Micrognathia ORPHANET:994 DOK7 285489 HP:0000316 Hypertelorism ORPHANET:994 DOK7 285489 HP:0010489 Absent palmar crease ORPHANET:994 DOK7 285489 HP:0000175 Cleft palate ORPHANET:994 DOK7 285489 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:994 RAPSN 5913 HP:0005280 Depressed nasal bridge ORPHANET:994 RAPSN 5913 HP:0002650 Scoliosis ORPHANET:994 RAPSN 5913 HP:0000028 Cryptorchidism ORPHANET:994 RAPSN 5913 HP:0001059 Pterygium ORPHANET:994 RAPSN 5913 HP:0001376 Limitation of joint mobility ORPHANET:994 RAPSN 5913 HP:0001305 Dandy-Walker malformation ORPHANET:994 RAPSN 5913 HP:0100490 Camptodactyly of finger ORPHANET:994 RAPSN 5913 HP:0002804 Arthrogryposis multiplex congenita ORPHANET:994 RAPSN 5913 HP:0000476 Cystic hygroma ORPHANET:994 RAPSN 5913 HP:0006703 Aplasia/Hypoplasia of the lungs ORPHANET:994 RAPSN 5913 HP:0002093 Respiratory insufficiency ORPHANET:994 RAPSN 5913 HP:0001557 Prenatal movement abnormality ORPHANET:994 RAPSN 5913 HP:0001561 Polyhydramnios ORPHANET:994 RAPSN 5913 HP:0001511 Intrauterine growth retardation ORPHANET:994 RAPSN 5913 HP:0003202 Skeletal muscle atrophy ORPHANET:994 RAPSN 5913 HP:0100022 Abnormality of movement ORPHANET:994 RAPSN 5913 HP:0001883 Talipes ORPHANET:994 RAPSN 5913 HP:0000347 Micrognathia ORPHANET:994 RAPSN 5913 HP:0000316 Hypertelorism ORPHANET:994 RAPSN 5913 HP:0010489 Absent palmar crease ORPHANET:994 RAPSN 5913 HP:0000175 Cleft palate ORPHANET:994 RAPSN 5913 HP:0000368 Low-set, posteriorly rotated ears OMIM:172870 CRB1 23418 HP:0007903 Pigmented paravenous chorioretinal atrophy OMIM:172870 CRB1 23418 HP:0000565 Esotropia OMIM:172870 CRB1 23418 HP:0000655 Vitreoretinal degeneration OMIM:172870 CRB1 23418 HP:0007737 Bony spicule pigmentary retinopathy OMIM:172870 CRB1 23418 HP:0000540 Hypermetropia OMIM:614822 SEPT12 124404 HP:0012864 Abnormal sperm morphology OMIM:614822 SEPT12 124404 HP:0000789 Infertility OMIM:614822 SEPT12 124404 HP:0000006 Autosomal dominant inheritance OMIM:603546 KIF22 3835 HP:0006443 Patellar aplasia OMIM:603546 KIF22 3835 HP:0002007 Frontal bossing OMIM:603546 KIF22 3835 HP:0001252 Muscular hypotonia OMIM:603546 KIF22 3835 HP:0002779 Tracheomalacia OMIM:603546 KIF22 3835 HP:0000463 Anteverted nares OMIM:603546 KIF22 3835 HP:0000470 Short neck OMIM:603546 KIF22 3835 HP:0004348 Abnormality of bone mineral density OMIM:603546 KIF22 3835 HP:0002652 Skeletal dysplasia OMIM:603546 KIF22 3835 HP:0003025 Metaphyseal irregularity OMIM:603546 KIF22 3835 HP:0008819 Narrow femoral neck OMIM:603546 KIF22 3835 HP:0003015 Flared metaphysis OMIM:603546 KIF22 3835 HP:0004322 Short stature OMIM:603546 KIF22 3835 HP:0012299 Long distal phalanx of finger OMIM:603546 KIF22 3835 HP:0001231 Abnormality of the fingernails OMIM:603546 KIF22 3835 HP:0005008 Large joint dislocations OMIM:603546 KIF22 3835 HP:0002970 Genu varum OMIM:603546 KIF22 3835 HP:0001388 Joint laxity OMIM:603546 KIF22 3835 HP:0003370 Flat capital femoral epiphysis OMIM:603546 KIF22 3835 HP:0001163 Abnormality of the metacarpal bones OMIM:603546 KIF22 3835 HP:0002857 Genu valgum OMIM:603546 KIF22 3835 HP:0003090 Hypoplasia of the capital femoral epiphysis OMIM:603546 KIF22 3835 HP:0002650 Scoliosis OMIM:603546 KIF22 3835 HP:0002983 Micromelia OMIM:603546 KIF22 3835 HP:0010582 Irregular epiphyses OMIM:603546 KIF22 3835 HP:0000006 Autosomal dominant inheritance OMIM:603546 KIF22 3835 HP:0003272 Abnormality of the hip bone OMIM:603546 KIF22 3835 HP:0012297 Slender proximal phalanx of finger OMIM:603546 KIF22 3835 HP:0006127 Long proximal phalanx of finger OMIM:603546 KIF22 3835 HP:0001374 Congenital hip dislocation OMIM:603546 KIF22 3835 HP:0005280 Depressed nasal bridge OMIM:603546 KIF22 3835 HP:0001763 Pes planus OMIM:603546 KIF22 3835 HP:0010585 Small epiphyses OMIM:603546 KIF22 3835 HP:0006454 Delayed patellar ossification OMIM:603546 KIF22 3835 HP:0012296 Slender distal phalanx of finger OMIM:603546 KIF22 3835 HP:0003196 Short nose OMIM:603546 KIF22 3835 HP:0006016 Delayed phalangeal epiphyseal ossification OMIM:603546 KIF22 3835 HP:0011800 Midface retrusion OMIM:603546 KIF22 3835 HP:0005121 Posterior scalloping of vertebral bodies OMIM:603546 KIF22 3835 HP:0002651 Spondyloepimetaphyseal dysplasia OMIM:603546 KIF22 3835 HP:0003301 Irregular vertebral endplates OMIM:603546 KIF22 3835 HP:0000256 Macrocephaly OMIM:603546 KIF22 3835 HP:0005092 Streaky metaphyseal sclerosis OMIM:603546 KIF22 3835 HP:0008457 Caudal interpedicular narrowing OMIM:603546 KIF22 3835 HP:0000977 Soft skin OMIM:603546 KIF22 3835 HP:0005107 Abnormality of the sacrum OMIM:603546 KIF22 3835 HP:0009836 Broad distal phalanx of finger OMIM:603546 KIF22 3835 HP:0100625 Enlarged thorax OMIM:603546 KIF22 3835 HP:0003019 Abnormality of the wrist OMIM:603546 KIF22 3835 HP:0100543 Cognitive impairment OMIM:603546 KIF22 3835 HP:0002758 Osteoarthritis OMIM:603546 KIF22 3835 HP:0010301 Spinal dysraphism OMIM:603546 KIF22 3835 HP:0002808 Kyphosis OMIM:603546 KIF22 3835 HP:0000272 Malar flattening OMIM:603546 KIF22 3835 HP:0000368 Low-set, posteriorly rotated ears OMIM:603546 KIF22 3835 HP:0000926 Platyspondyly OMIM:603546 KIF22 3835 HP:0001600 Abnormality of the larynx OMIM:603546 KIF22 3835 HP:0001498 Carpal bone hypoplasia OMIM:603546 KIF22 3835 HP:0003083 Dislocated radial head OMIM:606070 MATR3 9782 HP:0002460 Distal muscle weakness OMIM:606070 MATR3 9782 HP:0002483 Bulbar signs OMIM:606070 MATR3 9782 HP:0001609 Hoarse voice OMIM:606070 MATR3 9782 HP:0000726 Dementia OMIM:606070 MATR3 9782 HP:0002015 Dysphagia OMIM:606070 MATR3 9782 HP:0001347 Hyperreflexia OMIM:606070 MATR3 9782 HP:0003547 Shoulder girdle muscle weakness OMIM:606070 MATR3 9782 HP:0001739 Abnormality of the nasopharynx OMIM:606070 MATR3 9782 HP:0001283 Bulbar palsy OMIM:606070 MATR3 9782 HP:0008756 Bowing of the vocal cords OMIM:606070 MATR3 9782 HP:0003236 Elevated serum creatine phosphokinase OMIM:606070 MATR3 9782 HP:0000006 Autosomal dominant inheritance OMIM:606070 MATR3 9782 HP:0002127 Abnormal upper motor neuron morphology OMIM:606070 MATR3 9782 HP:0003581 Adult onset OMIM:606070 MATR3 9782 HP:0000762 Decreased nerve conduction velocity OMIM:606070 MATR3 9782 HP:0002936 Distal sensory impairment OMIM:606070 MATR3 9782 HP:0002366 Abnormal lower motor neuron morphology OMIM:606070 MATR3 9782 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:606070 MATR3 9782 HP:0007354 Amyotrophic lateral sclerosis OMIM:606070 MATR3 9782 HP:0002835 Aspiration OMIM:606070 MATR3 9782 HP:0001260 Dysarthria OMIM:606070 MATR3 9782 HP:0003805 Rimmed vacuoles OMIM:606070 MATR3 9782 HP:0003828 Variable expressivity OMIM:470000 RPS4Y1 6192 HP:0001450 Y-linked inheritance OMIM:615651 CLCN2 1181 HP:0002352 Leukoencephalopathy OMIM:615651 CLCN2 1181 HP:0002315 Headache OMIM:615651 CLCN2 1181 HP:0001145 Chorioretinopathy OMIM:615651 CLCN2 1181 HP:0001123 Visual field defect OMIM:615651 CLCN2 1181 HP:0000007 Autosomal recessive inheritance OMIM:615651 CLCN2 1181 HP:0001138 Optic neuropathy OMIM:615651 CLCN2 1181 HP:0002066 Gait ataxia OMIM:615651 CLCN2 1181 HP:0002070 Limb ataxia OMIM:300643 SRPX2 27286 HP:0007095 Frontoparietal polymicrogyria OMIM:300643 SRPX2 27286 HP:0011098 Speech apraxia OMIM:300643 SRPX2 27286 HP:0007359 Focal seizures OMIM:300643 SRPX2 27286 HP:0000006 Autosomal dominant inheritance OMIM:300643 SRPX2 27286 HP:0001256 Intellectual disability, mild ORPHANET:588 FKRP 79147 HP:0002435 Meningocele ORPHANET:588 FKRP 79147 HP:0002167 Neurological speech impairment ORPHANET:588 FKRP 79147 HP:0001608 Abnormality of the voice ORPHANET:588 FKRP 79147 HP:0001288 Gait disturbance ORPHANET:588 FKRP 79147 HP:0000505 Visual impairment ORPHANET:588 FKRP 79147 HP:0001252 Muscular hypotonia ORPHANET:588 FKRP 79147 HP:0001276 Hypertonia ORPHANET:588 FKRP 79147 HP:0003198 Myopathy ORPHANET:588 FKRP 79147 HP:0000501 Glaucoma ORPHANET:588 FKRP 79147 HP:0000238 Hydrocephalus ORPHANET:588 FKRP 79147 HP:0000545 Myopia ORPHANET:588 FKRP 79147 HP:0002353 EEG abnormality ORPHANET:588 FKRP 79147 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:588 FKRP 79147 HP:0001250 Seizures ORPHANET:588 FKRP 79147 HP:0000648 Optic atrophy ORPHANET:588 FKRP 79147 HP:0000486 Strabismus ORPHANET:588 FKRP 79147 HP:0100543 Cognitive impairment ORPHANET:588 FKRP 79147 HP:0000518 Cataract ORPHANET:588 FKRP 79147 HP:0004374 Hemiplegia/hemiparesis ORPHANET:588 FKRP 79147 HP:0003457 EMG abnormality ORPHANET:588 FKRP 79147 HP:0001360 Holoprosencephaly ORPHANET:588 FKTN 2218 HP:0002435 Meningocele ORPHANET:588 FKTN 2218 HP:0002167 Neurological speech impairment ORPHANET:588 FKTN 2218 HP:0001608 Abnormality of the voice ORPHANET:588 FKTN 2218 HP:0001288 Gait disturbance ORPHANET:588 FKTN 2218 HP:0000505 Visual impairment ORPHANET:588 FKTN 2218 HP:0001252 Muscular hypotonia ORPHANET:588 FKTN 2218 HP:0001276 Hypertonia ORPHANET:588 FKTN 2218 HP:0003198 Myopathy ORPHANET:588 FKTN 2218 HP:0000501 Glaucoma ORPHANET:588 FKTN 2218 HP:0000238 Hydrocephalus ORPHANET:588 FKTN 2218 HP:0000545 Myopia ORPHANET:588 FKTN 2218 HP:0002353 EEG abnormality ORPHANET:588 FKTN 2218 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:588 FKTN 2218 HP:0001250 Seizures ORPHANET:588 FKTN 2218 HP:0000648 Optic atrophy ORPHANET:588 FKTN 2218 HP:0000486 Strabismus ORPHANET:588 FKTN 2218 HP:0100543 Cognitive impairment ORPHANET:588 FKTN 2218 HP:0000518 Cataract ORPHANET:588 FKTN 2218 HP:0004374 Hemiplegia/hemiparesis ORPHANET:588 FKTN 2218 HP:0003457 EMG abnormality ORPHANET:588 FKTN 2218 HP:0001360 Holoprosencephaly ORPHANET:588 POMGNT1 55624 HP:0002435 Meningocele ORPHANET:588 POMGNT1 55624 HP:0002167 Neurological speech impairment ORPHANET:588 POMGNT1 55624 HP:0001608 Abnormality of the voice ORPHANET:588 POMGNT1 55624 HP:0001288 Gait disturbance ORPHANET:588 POMGNT1 55624 HP:0000505 Visual impairment ORPHANET:588 POMGNT1 55624 HP:0001252 Muscular hypotonia ORPHANET:588 POMGNT1 55624 HP:0001276 Hypertonia ORPHANET:588 POMGNT1 55624 HP:0003198 Myopathy ORPHANET:588 POMGNT1 55624 HP:0000501 Glaucoma ORPHANET:588 POMGNT1 55624 HP:0000238 Hydrocephalus ORPHANET:588 POMGNT1 55624 HP:0000545 Myopia ORPHANET:588 POMGNT1 55624 HP:0002353 EEG abnormality ORPHANET:588 POMGNT1 55624 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:588 POMGNT1 55624 HP:0001250 Seizures ORPHANET:588 POMGNT1 55624 HP:0000648 Optic atrophy ORPHANET:588 POMGNT1 55624 HP:0000486 Strabismus ORPHANET:588 POMGNT1 55624 HP:0100543 Cognitive impairment ORPHANET:588 POMGNT1 55624 HP:0000518 Cataract ORPHANET:588 POMGNT1 55624 HP:0004374 Hemiplegia/hemiparesis ORPHANET:588 POMGNT1 55624 HP:0003457 EMG abnormality ORPHANET:588 POMGNT1 55624 HP:0001360 Holoprosencephaly ORPHANET:588 GMPPB 29925 HP:0002435 Meningocele ORPHANET:588 GMPPB 29925 HP:0002167 Neurological speech impairment ORPHANET:588 GMPPB 29925 HP:0001608 Abnormality of the voice ORPHANET:588 GMPPB 29925 HP:0001288 Gait disturbance ORPHANET:588 GMPPB 29925 HP:0000505 Visual impairment ORPHANET:588 GMPPB 29925 HP:0001252 Muscular hypotonia ORPHANET:588 GMPPB 29925 HP:0001276 Hypertonia ORPHANET:588 GMPPB 29925 HP:0003198 Myopathy ORPHANET:588 GMPPB 29925 HP:0000501 Glaucoma ORPHANET:588 GMPPB 29925 HP:0000238 Hydrocephalus ORPHANET:588 GMPPB 29925 HP:0000545 Myopia ORPHANET:588 GMPPB 29925 HP:0002353 EEG abnormality ORPHANET:588 GMPPB 29925 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:588 GMPPB 29925 HP:0001250 Seizures ORPHANET:588 GMPPB 29925 HP:0000648 Optic atrophy ORPHANET:588 GMPPB 29925 HP:0000486 Strabismus ORPHANET:588 GMPPB 29925 HP:0100543 Cognitive impairment ORPHANET:588 GMPPB 29925 HP:0000518 Cataract ORPHANET:588 GMPPB 29925 HP:0004374 Hemiplegia/hemiparesis ORPHANET:588 GMPPB 29925 HP:0003457 EMG abnormality ORPHANET:588 GMPPB 29925 HP:0001360 Holoprosencephaly ORPHANET:588 LARGE 9215 HP:0002435 Meningocele ORPHANET:588 LARGE 9215 HP:0002167 Neurological speech impairment ORPHANET:588 LARGE 9215 HP:0001608 Abnormality of the voice ORPHANET:588 LARGE 9215 HP:0001288 Gait disturbance ORPHANET:588 LARGE 9215 HP:0000505 Visual impairment ORPHANET:588 LARGE 9215 HP:0001252 Muscular hypotonia ORPHANET:588 LARGE 9215 HP:0001276 Hypertonia ORPHANET:588 LARGE 9215 HP:0003198 Myopathy ORPHANET:588 LARGE 9215 HP:0000501 Glaucoma ORPHANET:588 LARGE 9215 HP:0000238 Hydrocephalus ORPHANET:588 LARGE 9215 HP:0000545 Myopia ORPHANET:588 LARGE 9215 HP:0002353 EEG abnormality ORPHANET:588 LARGE 9215 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:588 LARGE 9215 HP:0001250 Seizures ORPHANET:588 LARGE 9215 HP:0000648 Optic atrophy ORPHANET:588 LARGE 9215 HP:0000486 Strabismus ORPHANET:588 LARGE 9215 HP:0100543 Cognitive impairment ORPHANET:588 LARGE 9215 HP:0000518 Cataract ORPHANET:588 LARGE 9215 HP:0004374 Hemiplegia/hemiparesis ORPHANET:588 LARGE 9215 HP:0003457 EMG abnormality ORPHANET:588 LARGE 9215 HP:0001360 Holoprosencephaly ORPHANET:588 B3GALNT2 148789 HP:0002435 Meningocele ORPHANET:588 B3GALNT2 148789 HP:0002167 Neurological speech impairment ORPHANET:588 B3GALNT2 148789 HP:0001608 Abnormality of the voice ORPHANET:588 B3GALNT2 148789 HP:0001288 Gait disturbance ORPHANET:588 B3GALNT2 148789 HP:0000505 Visual impairment ORPHANET:588 B3GALNT2 148789 HP:0001252 Muscular hypotonia ORPHANET:588 B3GALNT2 148789 HP:0001276 Hypertonia ORPHANET:588 B3GALNT2 148789 HP:0003198 Myopathy ORPHANET:588 B3GALNT2 148789 HP:0000501 Glaucoma ORPHANET:588 B3GALNT2 148789 HP:0000238 Hydrocephalus ORPHANET:588 B3GALNT2 148789 HP:0000545 Myopia ORPHANET:588 B3GALNT2 148789 HP:0002353 EEG abnormality ORPHANET:588 B3GALNT2 148789 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:588 B3GALNT2 148789 HP:0001250 Seizures ORPHANET:588 B3GALNT2 148789 HP:0000648 Optic atrophy ORPHANET:588 B3GALNT2 148789 HP:0000486 Strabismus ORPHANET:588 B3GALNT2 148789 HP:0100543 Cognitive impairment ORPHANET:588 B3GALNT2 148789 HP:0000518 Cataract ORPHANET:588 B3GALNT2 148789 HP:0004374 Hemiplegia/hemiparesis ORPHANET:588 B3GALNT2 148789 HP:0003457 EMG abnormality ORPHANET:588 B3GALNT2 148789 HP:0001360 Holoprosencephaly ORPHANET:588 POMT1 10585 HP:0002435 Meningocele ORPHANET:588 POMT1 10585 HP:0002167 Neurological speech impairment ORPHANET:588 POMT1 10585 HP:0001608 Abnormality of the voice ORPHANET:588 POMT1 10585 HP:0001288 Gait disturbance ORPHANET:588 POMT1 10585 HP:0000505 Visual impairment ORPHANET:588 POMT1 10585 HP:0001252 Muscular hypotonia ORPHANET:588 POMT1 10585 HP:0001276 Hypertonia ORPHANET:588 POMT1 10585 HP:0003198 Myopathy ORPHANET:588 POMT1 10585 HP:0000501 Glaucoma ORPHANET:588 POMT1 10585 HP:0000238 Hydrocephalus ORPHANET:588 POMT1 10585 HP:0000545 Myopia ORPHANET:588 POMT1 10585 HP:0002353 EEG abnormality ORPHANET:588 POMT1 10585 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:588 POMT1 10585 HP:0001250 Seizures ORPHANET:588 POMT1 10585 HP:0000648 Optic atrophy ORPHANET:588 POMT1 10585 HP:0000486 Strabismus ORPHANET:588 POMT1 10585 HP:0100543 Cognitive impairment ORPHANET:588 POMT1 10585 HP:0000518 Cataract ORPHANET:588 POMT1 10585 HP:0004374 Hemiplegia/hemiparesis ORPHANET:588 POMT1 10585 HP:0003457 EMG abnormality ORPHANET:588 POMT1 10585 HP:0001360 Holoprosencephaly ORPHANET:588 POMT2 29954 HP:0002435 Meningocele ORPHANET:588 POMT2 29954 HP:0002167 Neurological speech impairment ORPHANET:588 POMT2 29954 HP:0001608 Abnormality of the voice ORPHANET:588 POMT2 29954 HP:0001288 Gait disturbance ORPHANET:588 POMT2 29954 HP:0000505 Visual impairment ORPHANET:588 POMT2 29954 HP:0001252 Muscular hypotonia ORPHANET:588 POMT2 29954 HP:0001276 Hypertonia ORPHANET:588 POMT2 29954 HP:0003198 Myopathy ORPHANET:588 POMT2 29954 HP:0000501 Glaucoma ORPHANET:588 POMT2 29954 HP:0000238 Hydrocephalus ORPHANET:588 POMT2 29954 HP:0000545 Myopia ORPHANET:588 POMT2 29954 HP:0002353 EEG abnormality ORPHANET:588 POMT2 29954 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:588 POMT2 29954 HP:0001250 Seizures ORPHANET:588 POMT2 29954 HP:0000648 Optic atrophy ORPHANET:588 POMT2 29954 HP:0000486 Strabismus ORPHANET:588 POMT2 29954 HP:0100543 Cognitive impairment ORPHANET:588 POMT2 29954 HP:0000518 Cataract ORPHANET:588 POMT2 29954 HP:0004374 Hemiplegia/hemiparesis ORPHANET:588 POMT2 29954 HP:0003457 EMG abnormality ORPHANET:588 POMT2 29954 HP:0001360 Holoprosencephaly OMIM:615683 ENTPD1 953 HP:0001249 Intellectual disability OMIM:615683 ENTPD1 953 HP:0000007 Autosomal recessive inheritance OMIM:615683 ENTPD1 953 HP:0001258 Spastic paraplegia OMIM:615683 ENTPD1 953 HP:0001288 Gait disturbance OMIM:615683 ENTPD1 953 HP:0002500 Abnormality of the cerebral white matter OMIM:615683 ENTPD1 953 HP:0000252 Microcephaly OMIM:615683 ENTPD1 953 HP:0001260 Dysarthria OMIM:309350 FLNA 2316 HP:0003103 Abnormal cortical bone morphology OMIM:309350 FLNA 2316 HP:0005792 Short humerus OMIM:309350 FLNA 2316 HP:0001163 Abnormality of the metacarpal bones OMIM:309350 FLNA 2316 HP:0000774 Narrow chest OMIM:309350 FLNA 2316 HP:0004493 Craniofacial hyperostosis OMIM:309350 FLNA 2316 HP:0010511 Long toe OMIM:309350 FLNA 2316 HP:0000316 Hypertelorism OMIM:309350 FLNA 2316 HP:0001539 Omphalocele OMIM:309350 FLNA 2316 HP:0010306 Short thorax OMIM:309350 FLNA 2316 HP:0000336 Prominent supraorbital ridges OMIM:309350 FLNA 2316 HP:0001288 Gait disturbance OMIM:309350 FLNA 2316 HP:0000684 Delayed eruption of teeth OMIM:309350 FLNA 2316 HP:0000772 Abnormality of the ribs OMIM:309350 FLNA 2316 HP:0000520 Proptosis OMIM:309350 FLNA 2316 HP:0001609 Hoarse voice OMIM:309350 FLNA 2316 HP:0011335 Frontal hirsutism OMIM:309350 FLNA 2316 HP:0004322 Short stature OMIM:309350 FLNA 2316 HP:0009771 Osteolytic defects of the phalanges of the hand OMIM:309350 FLNA 2316 HP:0000889 Abnormality of the clavicle OMIM:309350 FLNA 2316 HP:0000692 Misalignment of teeth OMIM:309350 FLNA 2316 HP:0000293 Full cheeks OMIM:309350 FLNA 2316 HP:0001508 Failure to thrive OMIM:309350 FLNA 2316 HP:0000400 Macrotia OMIM:309350 FLNA 2316 HP:0002857 Genu valgum OMIM:309350 FLNA 2316 HP:0002827 Hip dislocation OMIM:309350 FLNA 2316 HP:0000472 Long neck OMIM:309350 FLNA 2316 HP:0002652 Skeletal dysplasia OMIM:309350 FLNA 2316 HP:0000486 Strabismus OMIM:309350 FLNA 2316 HP:0003015 Flared metaphysis OMIM:309350 FLNA 2316 HP:0000944 Abnormality of the metaphyses OMIM:309350 FLNA 2316 HP:0000076 Vesicoureteral reflux OMIM:309350 FLNA 2316 HP:0009882 Short distal phalanx of finger OMIM:309350 FLNA 2316 HP:0001634 Mitral valve prolapse OMIM:309350 FLNA 2316 HP:0010230 Cone-shaped epiphyses of the phalanges of the hand OMIM:309350 FLNA 2316 HP:0000347 Micrognathia OMIM:309350 FLNA 2316 HP:0001671 Abnormality of the cardiac septa OMIM:309350 FLNA 2316 HP:0000894 Short clavicles OMIM:309350 FLNA 2316 HP:0001382 Joint hypermobility OMIM:309350 FLNA 2316 HP:0000071 Ureteral stenosis OMIM:309350 FLNA 2316 HP:0009804 Reduced number of teeth OMIM:309350 FLNA 2316 HP:0002650 Scoliosis OMIM:309350 FLNA 2316 HP:0002208 Coarse hair OMIM:309350 FLNA 2316 HP:0001270 Motor delay OMIM:309350 FLNA 2316 HP:0002007 Frontal bossing OMIM:309350 FLNA 2316 HP:0002751 Kyphoscoliosis OMIM:309350 FLNA 2316 HP:0002673 Coxa valga OMIM:309350 FLNA 2316 HP:0000126 Hydronephrosis OMIM:309350 FLNA 2316 HP:0001377 Limited elbow extension OMIM:309350 FLNA 2316 HP:0001166 Arachnodactyly OMIM:309350 FLNA 2316 HP:0002205 Recurrent respiratory infections OMIM:309350 FLNA 2316 HP:0003272 Abnormality of the hip bone OMIM:309350 FLNA 2316 HP:0000403 Recurrent otitis media OMIM:309350 FLNA 2316 HP:0000882 Hypoplastic scapulae OMIM:309350 FLNA 2316 HP:0000270 Delayed cranial suture closure OMIM:309350 FLNA 2316 HP:0002092 Pulmonary hypertension OMIM:309350 FLNA 2316 HP:0001423 X-linked dominant inheritance OMIM:309350 FLNA 2316 HP:0003826 Stillbirth OMIM:309350 FLNA 2316 HP:0005446 Obtuse angle of mandible OMIM:309350 FLNA 2316 HP:0003312 Abnormal form of the vertebral bodies OMIM:309350 FLNA 2316 HP:0000324 Facial asymmetry OMIM:309350 FLNA 2316 HP:0000365 Hearing impairment OMIM:309350 FLNA 2316 HP:0001763 Pes planus OMIM:309350 FLNA 2316 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:309350 FLNA 2316 HP:0000274 Small face OMIM:309350 FLNA 2316 HP:0000767 Pectus excavatum OMIM:309350 FLNA 2316 HP:0002982 Tibial bowing OMIM:309350 FLNA 2316 HP:0001762 Talipes equinovarus OMIM:309350 FLNA 2316 HP:0004611 Anterior concavity of thoracic vertebrae OMIM:309350 FLNA 2316 HP:0002093 Respiratory insufficiency OMIM:309350 FLNA 2316 HP:0000175 Cleft palate OMIM:309350 FLNA 2316 HP:0001704 Tricuspid valve prolapse OMIM:269600 APOE 348 HP:0001933 Subcutaneous hemorrhage OMIM:269600 APOE 348 HP:0000488 Retinopathy OMIM:269600 APOE 348 HP:0001982 Sea-blue histiocytosis OMIM:269600 APOE 348 HP:0002113 Pulmonary infiltrates OMIM:269600 APOE 348 HP:0007400 Irregular hyperpigmentation OMIM:269600 APOE 348 HP:0002240 Hepatomegaly OMIM:269600 APOE 348 HP:0000478 Abnormality of the eye OMIM:269600 APOE 348 HP:0001744 Splenomegaly OMIM:269600 APOE 348 HP:0000007 Autosomal recessive inheritance OMIM:269600 APOE 348 HP:0000498 Blepharitis OMIM:269600 APOE 348 HP:0001873 Thrombocytopenia OMIM:269600 APOE 348 HP:0001928 Abnormality of coagulation OMIM:269600 APOE 348 HP:0000969 Edema OMIM:269600 APOE 348 HP:0001394 Cirrhosis OMIM:269600 APOE 348 HP:0100721 Mediastinal lymphadenopathy OMIM:269600 APOE 348 HP:0002221 Absent axillary hair OMIM:103900 CYP11B1 1584 HP:0000006 Autosomal dominant inheritance OMIM:103900 CYP11B1 1584 HP:0008221 Adrenal hyperplasia OMIM:103900 CYP11B1 1584 HP:0000859 Hyperaldosteronism OMIM:103900 CYP11B1 1584 HP:0003351 Decreased circulating renin level OMIM:103900 CYP11B1 1584 HP:0000840 Adrenogenital syndrome OMIM:103900 CYP11B1 1584 HP:0000822 Hypertension OMIM:103900 CYP11B1 1584 HP:0000079 Abnormality of the urinary system OMIM:103900 CYP11B1 1584 HP:0003674 Onset OMIM:613763 CRYAB 1410 HP:0000006 Autosomal dominant inheritance OMIM:613763 CRYAB 1410 HP:0000556 Retinal dystrophy OMIM:613763 CRYAB 1410 HP:0001115 Posterior polar cataract OMIM:613763 CRYAB 1410 HP:0000007 Autosomal recessive inheritance OMIM:613763 CRYAB 1410 HP:0000519 Congenital cataract OMIM:609056 ST3GAL5 8869 HP:0002069 Generalized tonic-clonic seizures OMIM:609056 ST3GAL5 8869 HP:0000007 Autosomal recessive inheritance OMIM:609056 ST3GAL5 8869 HP:0000252 Microcephaly OMIM:609056 ST3GAL5 8869 HP:0000365 Hearing impairment OMIM:609056 ST3GAL5 8869 HP:0002395 Lower limb hyperreflexia OMIM:609056 ST3GAL5 8869 HP:0002013 Vomiting OMIM:609056 ST3GAL5 8869 HP:0002283 Global brain atrophy OMIM:609056 ST3GAL5 8869 HP:0000648 Optic atrophy OMIM:609056 ST3GAL5 8869 HP:0001266 Choreoathetosis OMIM:609056 ST3GAL5 8869 HP:0002133 Status epilepticus OMIM:609056 ST3GAL5 8869 HP:0001263 Global developmental delay OMIM:609056 ST3GAL5 8869 HP:0008872 Feeding difficulties in infancy OMIM:609056 ST3GAL5 8869 HP:0006834 Developmental stagnation at onset of seizures OMIM:609056 ST3GAL5 8869 HP:0002376 Developmental regression OMIM:609056 ST3GAL5 8869 HP:0001508 Failure to thrive OMIM:609056 ST3GAL5 8869 HP:0001252 Muscular hypotonia OMIM:609056 ST3GAL5 8869 HP:0100704 Cortical visual impairment OMIM:609056 ST3GAL5 8869 HP:0000572 Visual loss OMIM:609056 ST3GAL5 8869 HP:0012391 Hyporeflexia of upper limbs OMIM:609056 ST3GAL5 8869 HP:0001344 Absent speech OMIM:609056 ST3GAL5 8869 HP:0001336 Myoclonus OMIM:609056 ST3GAL5 8869 HP:0000737 Irritability OMIM:277480 VWF 7450 HP:0003125 Reduced factor VIII activity OMIM:277480 VWF 7450 HP:0001873 Thrombocytopenia OMIM:277480 VWF 7450 HP:0000978 Bruising susceptibility OMIM:277480 VWF 7450 HP:0000007 Autosomal recessive inheritance OMIM:277480 VWF 7450 HP:0005261 Joint hemorrhage OMIM:277480 VWF 7450 HP:0003540 Impaired platelet aggregation OMIM:277480 VWF 7450 HP:0003010 Prolonged bleeding time OMIM:277480 VWF 7450 HP:0008330 Reduced von Willebrand factor activity OMIM:277480 VWF 7450 HP:0000132 Menorrhagia OMIM:277480 VWF 7450 HP:0000421 Epistaxis OMIM:277480 VWF 7450 HP:0001934 Persistent bleeding after trauma OMIM:300896 SLC35A2 7355 HP:0012471 Thick vermilion border OMIM:300896 SLC35A2 7355 HP:0001423 X-linked dominant inheritance OMIM:300896 SLC35A2 7355 HP:0001263 Global developmental delay OMIM:300896 SLC35A2 7355 HP:0002719 Recurrent infections OMIM:300896 SLC35A2 7355 HP:0000280 Coarse facial features OMIM:300896 SLC35A2 7355 HP:0000431 Wide nasal bridge OMIM:300896 SLC35A2 7355 HP:0000252 Microcephaly OMIM:300896 SLC35A2 7355 HP:0000574 Thick eyebrow OMIM:300896 SLC35A2 7355 HP:0002059 Cerebral atrophy OMIM:300896 SLC35A2 7355 HP:0001442 Somatic mosaicism OMIM:300896 SLC35A2 7355 HP:0001250 Seizures OMIM:300896 SLC35A2 7355 HP:0200134 Epileptic encephalopathy OMIM:300896 SLC35A2 7355 HP:0000510 Retinitis pigmentosa OMIM:300896 SLC35A2 7355 HP:0000639 Nystagmus OMIM:300896 SLC35A2 7355 HP:0002079 Hypoplasia of the corpus callosum OMIM:300896 SLC35A2 7355 HP:0012448 Delayed myelination OMIM:300896 SLC35A2 7355 HP:0002020 Gastroesophageal reflux OMIM:300896 SLC35A2 7355 HP:0001252 Muscular hypotonia OMIM:300896 SLC35A2 7355 HP:0000194 Open mouth OMIM:300896 SLC35A2 7355 HP:0002521 Hypsarrhythmia OMIM:607259 SPG7 6687 HP:0002015 Dysphagia OMIM:607259 SPG7 6687 HP:0002314 Degeneration of the lateral corticospinal tracts OMIM:607259 SPG7 6687 HP:0000639 Nystagmus OMIM:607259 SPG7 6687 HP:0002064 Spastic gait OMIM:607259 SPG7 6687 HP:0000012 Urinary urgency OMIM:607259 SPG7 6687 HP:0000648 Optic atrophy OMIM:607259 SPG7 6687 HP:0000006 Autosomal dominant inheritance OMIM:607259 SPG7 6687 HP:0002061 Lower limb spasticity OMIM:607259 SPG7 6687 HP:0001347 Hyperreflexia OMIM:607259 SPG7 6687 HP:0003581 Adult onset OMIM:607259 SPG7 6687 HP:0002066 Gait ataxia OMIM:607259 SPG7 6687 HP:0002354 Memory impairment OMIM:607259 SPG7 6687 HP:0001761 Pes cavus OMIM:607259 SPG7 6687 HP:0000020 Urinary incontinence OMIM:607259 SPG7 6687 HP:0002650 Scoliosis OMIM:607259 SPG7 6687 HP:0003487 Babinski sign OMIM:607259 SPG7 6687 HP:0002120 Cerebral cortical atrophy OMIM:607259 SPG7 6687 HP:0001260 Dysarthria OMIM:607259 SPG7 6687 HP:0002166 Impaired vibration sensation in the lower limbs OMIM:607259 SPG7 6687 HP:0001258 Spastic paraplegia OMIM:607259 SPG7 6687 HP:0001272 Cerebellar atrophy OMIM:607259 SPG7 6687 HP:0002839 Urinary bladder sphincter dysfunction OMIM:607259 SPG7 6687 HP:0000007 Autosomal recessive inheritance OMIM:607259 SPG7 6687 HP:0007340 Lower limb muscle weakness OMIM:223000 LCT 3938 HP:0001944 Dehydration OMIM:223000 LCT 3938 HP:0004789 Lactose intolerance OMIM:223000 LCT 3938 HP:0002014 Diarrhea OMIM:223000 LCT 3938 HP:0001942 Metabolic acidosis OMIM:223000 LCT 3938 HP:0000007 Autosomal recessive inheritance OMIM:167320 VCP 7415 HP:0006913 Frontal cortical atrophy OMIM:167320 VCP 7415 HP:0002357 Dysphasia OMIM:167320 VCP 7415 HP:0003198 Myopathy OMIM:167320 VCP 7415 HP:0003418 Back pain OMIM:167320 VCP 7415 HP:0003805 Rimmed vacuoles OMIM:167320 VCP 7415 HP:0000006 Autosomal dominant inheritance OMIM:167320 VCP 7415 HP:0003236 Elevated serum creatine phosphokinase OMIM:167320 VCP 7415 HP:0010639 Elevated alkaline phosphatase of bone origin OMIM:167320 VCP 7415 HP:0002145 Frontotemporal dementia OMIM:167320 VCP 7415 HP:0003701 Proximal muscle weakness OMIM:167320 VCP 7415 HP:0008946 Pelvic girdle amyotrophy OMIM:167320 VCP 7415 HP:0010628 Facial palsy OMIM:167320 VCP 7415 HP:0003724 Shoulder girdle muscle atrophy OMIM:167320 VCP 7415 HP:0003690 Limb muscle weakness OMIM:167320 VCP 7415 HP:0007354 Amyotrophic lateral sclerosis OMIM:167320 VCP 7415 HP:0001332 Dystonia OMIM:167320 VCP 7415 HP:0003749 Pelvic girdle muscle weakness OMIM:167320 VCP 7415 HP:0003551 Difficulty climbing stairs OMIM:167320 VCP 7415 HP:0001288 Gait disturbance OMIM:167320 VCP 7415 HP:0002938 Lumbar hyperlordosis OMIM:167320 VCP 7415 HP:0003691 Scapular winging OMIM:167320 VCP 7415 HP:0007112 Temporal cortical atrophy OMIM:167320 VCP 7415 HP:0008988 Pelvic girdle muscle atrophy OMIM:167320 VCP 7415 HP:0003693 Distal amyotrophy OMIM:167320 VCP 7415 HP:0003547 Shoulder girdle muscle weakness OMIM:167320 VCP 7415 HP:0002644 Abnormality of pelvic girdle bone morphology ORPHANET:101330 UROD 7389 HP:0100021 Cerebral palsy ORPHANET:101330 UROD 7389 HP:0000992 Cutaneous photosensitivity ORPHANET:101330 UROD 7389 HP:0001053 Hypopigmented skin patches ORPHANET:101330 UROD 7389 HP:0000963 Thin skin ORPHANET:101330 UROD 7389 HP:0000998 Hypertrichosis ORPHANET:101330 UROD 7389 HP:0001645 Sudden cardiac death ORPHANET:101330 UROD 7389 HP:0004372 Reduced consciousness/confusion ORPHANET:101330 UROD 7389 HP:0001397 Hepatic steatosis ORPHANET:101330 UROD 7389 HP:0000988 Skin rash ORPHANET:101330 UROD 7389 HP:0007400 Irregular hyperpigmentation ORPHANET:101330 UROD 7389 HP:0000969 Edema ORPHANET:101330 UROD 7389 HP:0002896 Neoplasm of the liver ORPHANET:101330 UROD 7389 HP:0000987 Atypical scarring of skin ORPHANET:101330 UROD 7389 HP:0008066 Abnormal blistering of the skin ORPHANET:101330 UROD 7389 HP:0001394 Cirrhosis ORPHANET:101330 HFE 3077 HP:0100021 Cerebral palsy ORPHANET:101330 HFE 3077 HP:0000992 Cutaneous photosensitivity ORPHANET:101330 HFE 3077 HP:0001053 Hypopigmented skin patches ORPHANET:101330 HFE 3077 HP:0000963 Thin skin ORPHANET:101330 HFE 3077 HP:0000998 Hypertrichosis ORPHANET:101330 HFE 3077 HP:0001645 Sudden cardiac death ORPHANET:101330 HFE 3077 HP:0004372 Reduced consciousness/confusion ORPHANET:101330 HFE 3077 HP:0001397 Hepatic steatosis ORPHANET:101330 HFE 3077 HP:0000988 Skin rash ORPHANET:101330 HFE 3077 HP:0007400 Irregular hyperpigmentation ORPHANET:101330 HFE 3077 HP:0000969 Edema ORPHANET:101330 HFE 3077 HP:0002896 Neoplasm of the liver ORPHANET:101330 HFE 3077 HP:0000987 Atypical scarring of skin ORPHANET:101330 HFE 3077 HP:0008066 Abnormal blistering of the skin ORPHANET:101330 HFE 3077 HP:0001394 Cirrhosis OMIM:606054 PCCB 5096 HP:0002240 Hepatomegaly OMIM:606054 PCCB 5096 HP:0011675 Arrhythmia OMIM:606054 PCCB 5096 HP:0001987 Hyperammonemia OMIM:606054 PCCB 5096 HP:0001254 Lethargy OMIM:606054 PCCB 5096 HP:0001876 Pancytopenia OMIM:606054 PCCB 5096 HP:0100543 Cognitive impairment OMIM:606054 PCCB 5096 HP:0010978 Abnormality of immune system physiology OMIM:606054 PCCB 5096 HP:0002059 Cerebral atrophy OMIM:606054 PCCB 5096 HP:0000007 Autosomal recessive inheritance OMIM:606054 PCCB 5096 HP:0001942 Metabolic acidosis OMIM:606054 PCCB 5096 HP:0001943 Hypoglycemia OMIM:606054 PCCB 5096 HP:0002013 Vomiting OMIM:606054 PCCB 5096 HP:0002789 Tachypnea OMIM:606054 PCCB 5096 HP:0001259 Coma OMIM:606054 PCCB 5096 HP:0003128 Lactic acidosis OMIM:606054 PCCB 5096 HP:0001508 Failure to thrive OMIM:606054 PCCB 5096 HP:0000964 Eczema OMIM:606054 PCCB 5096 HP:0000939 Osteoporosis OMIM:606054 PCCB 5096 HP:0002154 Hyperglycinemia OMIM:606054 PCCB 5096 HP:0001250 Seizures OMIM:606054 PCCB 5096 HP:0003353 Propionyl-CoA carboxylase deficiency OMIM:606054 PCCB 5096 HP:0001263 Global developmental delay OMIM:606054 PCCB 5096 HP:0001903 Anemia OMIM:606054 PCCB 5096 HP:0011695 Cerebellar hemorrhage OMIM:606054 PCCB 5096 HP:0001873 Thrombocytopenia OMIM:606054 PCCB 5096 HP:0003108 Hyperglycinuria OMIM:606054 PCCB 5096 HP:0004396 Poor appetite OMIM:606054 PCCB 5096 HP:0003355 Aminoaciduria OMIM:606054 PCCB 5096 HP:0002509 Limb hypertonia OMIM:606054 PCCB 5096 HP:0002019 Constipation OMIM:606054 PCCB 5096 HP:0001332 Dystonia OMIM:606054 PCCB 5096 HP:0002104 Apnea OMIM:606054 PCCB 5096 HP:0001733 Pancreatitis OMIM:606054 PCCB 5096 HP:0001638 Cardiomyopathy OMIM:606054 PCCB 5096 HP:0000738 Hallucinations OMIM:606054 PCCB 5096 HP:0006846 Acute encephalopathy OMIM:606054 PCCB 5096 HP:0001639 Hypertrophic cardiomyopathy OMIM:606054 PCCB 5096 HP:0008936 Muscular hypotonia of the trunk OMIM:606054 PCCB 5096 HP:0001944 Dehydration OMIM:606054 PCCB 5096 HP:0004322 Short stature OMIM:606054 PCCB 5096 HP:0001875 Neutropenia OMIM:606054 PCCB 5096 HP:0008872 Feeding difficulties in infancy OMIM:606054 PCCA 5095 HP:0002240 Hepatomegaly OMIM:606054 PCCA 5095 HP:0011675 Arrhythmia OMIM:606054 PCCA 5095 HP:0001987 Hyperammonemia OMIM:606054 PCCA 5095 HP:0001254 Lethargy OMIM:606054 PCCA 5095 HP:0001876 Pancytopenia OMIM:606054 PCCA 5095 HP:0100543 Cognitive impairment OMIM:606054 PCCA 5095 HP:0010978 Abnormality of immune system physiology OMIM:606054 PCCA 5095 HP:0002059 Cerebral atrophy OMIM:606054 PCCA 5095 HP:0000007 Autosomal recessive inheritance OMIM:606054 PCCA 5095 HP:0001942 Metabolic acidosis OMIM:606054 PCCA 5095 HP:0001943 Hypoglycemia OMIM:606054 PCCA 5095 HP:0002013 Vomiting OMIM:606054 PCCA 5095 HP:0002789 Tachypnea OMIM:606054 PCCA 5095 HP:0001259 Coma OMIM:606054 PCCA 5095 HP:0003128 Lactic acidosis OMIM:606054 PCCA 5095 HP:0001508 Failure to thrive OMIM:606054 PCCA 5095 HP:0000964 Eczema OMIM:606054 PCCA 5095 HP:0000939 Osteoporosis OMIM:606054 PCCA 5095 HP:0002154 Hyperglycinemia OMIM:606054 PCCA 5095 HP:0001250 Seizures OMIM:606054 PCCA 5095 HP:0003353 Propionyl-CoA carboxylase deficiency OMIM:606054 PCCA 5095 HP:0001263 Global developmental delay OMIM:606054 PCCA 5095 HP:0001903 Anemia OMIM:606054 PCCA 5095 HP:0011695 Cerebellar hemorrhage OMIM:606054 PCCA 5095 HP:0001873 Thrombocytopenia OMIM:606054 PCCA 5095 HP:0003108 Hyperglycinuria OMIM:606054 PCCA 5095 HP:0004396 Poor appetite OMIM:606054 PCCA 5095 HP:0003355 Aminoaciduria OMIM:606054 PCCA 5095 HP:0002509 Limb hypertonia OMIM:606054 PCCA 5095 HP:0002019 Constipation OMIM:606054 PCCA 5095 HP:0001332 Dystonia OMIM:606054 PCCA 5095 HP:0002104 Apnea OMIM:606054 PCCA 5095 HP:0001733 Pancreatitis OMIM:606054 PCCA 5095 HP:0001638 Cardiomyopathy OMIM:606054 PCCA 5095 HP:0000738 Hallucinations OMIM:606054 PCCA 5095 HP:0006846 Acute encephalopathy OMIM:606054 PCCA 5095 HP:0001639 Hypertrophic cardiomyopathy OMIM:606054 PCCA 5095 HP:0008936 Muscular hypotonia of the trunk OMIM:606054 PCCA 5095 HP:0001944 Dehydration OMIM:606054 PCCA 5095 HP:0004322 Short stature OMIM:606054 PCCA 5095 HP:0001875 Neutropenia OMIM:606054 PCCA 5095 HP:0008872 Feeding difficulties in infancy OMIM:606764 KIT 3815 HP:0001392 Abnormality of the liver OMIM:606764 KIT 3815 HP:0000006 Autosomal dominant inheritance OMIM:606764 KIT 3815 HP:0002015 Dysphagia OMIM:606764 KIT 3815 HP:0001025 Urticaria OMIM:606764 KIT 3815 HP:0006753 Neoplasm of the stomach OMIM:606764 KIT 3815 HP:0002017 Nausea and vomiting OMIM:606764 KIT 3815 HP:0002239 Gastrointestinal hemorrhage OMIM:606764 KIT 3815 HP:0005214 Intestinal obstruction OMIM:606764 KIT 3815 HP:0003745 Sporadic OMIM:606764 KIT 3815 HP:0001903 Anemia OMIM:606764 KIT 3815 HP:0000953 Hyperpigmentation of the skin OMIM:606764 KIT 3815 HP:0008872 Feeding difficulties in infancy OMIM:606764 KIT 3815 HP:0100833 Neoplasm of the small intestine OMIM:606764 KIT 3815 HP:0100723 Gastrointestinal stroma tumor OMIM:606764 KIT 3815 HP:0100273 Neoplasm of the colon OMIM:606764 KIT 3815 HP:0100751 Esophageal neoplasm OMIM:606764 KIT 3815 HP:0001176 Large hands OMIM:606764 KIT 3815 HP:0000988 Skin rash OMIM:606764 KIT 3815 HP:0007400 Irregular hyperpigmentation OMIM:606764 KIT 3815 HP:0100242 Sarcoma OMIM:606764 KIT 3815 HP:0100743 Neoplasm of the rectum OMIM:606764 KIT 3815 HP:0002019 Constipation OMIM:606764 KIT 3815 HP:0001067 Neurofibromas OMIM:606764 SDHC 6391 HP:0001392 Abnormality of the liver OMIM:606764 SDHC 6391 HP:0000006 Autosomal dominant inheritance OMIM:606764 SDHC 6391 HP:0002015 Dysphagia OMIM:606764 SDHC 6391 HP:0001025 Urticaria OMIM:606764 SDHC 6391 HP:0006753 Neoplasm of the stomach OMIM:606764 SDHC 6391 HP:0002017 Nausea and vomiting OMIM:606764 SDHC 6391 HP:0002239 Gastrointestinal hemorrhage OMIM:606764 SDHC 6391 HP:0005214 Intestinal obstruction OMIM:606764 SDHC 6391 HP:0003745 Sporadic OMIM:606764 SDHC 6391 HP:0001903 Anemia OMIM:606764 SDHC 6391 HP:0000953 Hyperpigmentation of the skin OMIM:606764 SDHC 6391 HP:0008872 Feeding difficulties in infancy OMIM:606764 SDHC 6391 HP:0100833 Neoplasm of the small intestine OMIM:606764 SDHC 6391 HP:0100723 Gastrointestinal stroma tumor OMIM:606764 SDHC 6391 HP:0100273 Neoplasm of the colon OMIM:606764 SDHC 6391 HP:0100751 Esophageal neoplasm OMIM:606764 SDHC 6391 HP:0001176 Large hands OMIM:606764 SDHC 6391 HP:0000988 Skin rash OMIM:606764 SDHC 6391 HP:0007400 Irregular hyperpigmentation OMIM:606764 SDHC 6391 HP:0100242 Sarcoma OMIM:606764 SDHC 6391 HP:0100743 Neoplasm of the rectum OMIM:606764 SDHC 6391 HP:0002019 Constipation OMIM:606764 SDHC 6391 HP:0001067 Neurofibromas OMIM:606764 SDHB 6390 HP:0001392 Abnormality of the liver OMIM:606764 SDHB 6390 HP:0000006 Autosomal dominant inheritance OMIM:606764 SDHB 6390 HP:0002015 Dysphagia OMIM:606764 SDHB 6390 HP:0001025 Urticaria OMIM:606764 SDHB 6390 HP:0006753 Neoplasm of the stomach OMIM:606764 SDHB 6390 HP:0002017 Nausea and vomiting OMIM:606764 SDHB 6390 HP:0002239 Gastrointestinal hemorrhage OMIM:606764 SDHB 6390 HP:0005214 Intestinal obstruction OMIM:606764 SDHB 6390 HP:0003745 Sporadic OMIM:606764 SDHB 6390 HP:0001903 Anemia OMIM:606764 SDHB 6390 HP:0000953 Hyperpigmentation of the skin OMIM:606764 SDHB 6390 HP:0008872 Feeding difficulties in infancy OMIM:606764 SDHB 6390 HP:0100833 Neoplasm of the small intestine OMIM:606764 SDHB 6390 HP:0100723 Gastrointestinal stroma tumor OMIM:606764 SDHB 6390 HP:0100273 Neoplasm of the colon OMIM:606764 SDHB 6390 HP:0100751 Esophageal neoplasm OMIM:606764 SDHB 6390 HP:0001176 Large hands OMIM:606764 SDHB 6390 HP:0000988 Skin rash OMIM:606764 SDHB 6390 HP:0007400 Irregular hyperpigmentation OMIM:606764 SDHB 6390 HP:0100242 Sarcoma OMIM:606764 SDHB 6390 HP:0100743 Neoplasm of the rectum OMIM:606764 SDHB 6390 HP:0002019 Constipation OMIM:606764 SDHB 6390 HP:0001067 Neurofibromas OMIM:606764 PDGFRA 5156 HP:0001392 Abnormality of the liver OMIM:606764 PDGFRA 5156 HP:0000006 Autosomal dominant inheritance OMIM:606764 PDGFRA 5156 HP:0002015 Dysphagia OMIM:606764 PDGFRA 5156 HP:0001025 Urticaria OMIM:606764 PDGFRA 5156 HP:0006753 Neoplasm of the stomach OMIM:606764 PDGFRA 5156 HP:0002017 Nausea and vomiting OMIM:606764 PDGFRA 5156 HP:0002239 Gastrointestinal hemorrhage OMIM:606764 PDGFRA 5156 HP:0005214 Intestinal obstruction OMIM:606764 PDGFRA 5156 HP:0003745 Sporadic OMIM:606764 PDGFRA 5156 HP:0001903 Anemia OMIM:606764 PDGFRA 5156 HP:0000953 Hyperpigmentation of the skin OMIM:606764 PDGFRA 5156 HP:0008872 Feeding difficulties in infancy OMIM:606764 PDGFRA 5156 HP:0100833 Neoplasm of the small intestine OMIM:606764 PDGFRA 5156 HP:0100723 Gastrointestinal stroma tumor OMIM:606764 PDGFRA 5156 HP:0100273 Neoplasm of the colon OMIM:606764 PDGFRA 5156 HP:0100751 Esophageal neoplasm OMIM:606764 PDGFRA 5156 HP:0001176 Large hands OMIM:606764 PDGFRA 5156 HP:0000988 Skin rash OMIM:606764 PDGFRA 5156 HP:0007400 Irregular hyperpigmentation OMIM:606764 PDGFRA 5156 HP:0100242 Sarcoma OMIM:606764 PDGFRA 5156 HP:0100743 Neoplasm of the rectum OMIM:606764 PDGFRA 5156 HP:0002019 Constipation OMIM:606764 PDGFRA 5156 HP:0001067 Neurofibromas OMIM:615841 TAF4B 6875 HP:0000027 Azoospermia OMIM:165800 ACAN 176 HP:0002515 Waddling gait OMIM:165800 ACAN 176 HP:0000006 Autosomal dominant inheritance OMIM:165800 ACAN 176 HP:0100777 Exostoses OMIM:165800 ACAN 176 HP:0001507 Growth abnormality OMIM:165800 ACAN 176 HP:0010886 Osteochondrosis dissecans OMIM:165800 ACAN 176 HP:0004322 Short stature OMIM:165800 ACAN 176 HP:0002758 Osteoarthritis OMIM:268310 ROR2 4920 HP:0002650 Scoliosis OMIM:268310 ROR2 4920 HP:0000368 Low-set, posteriorly rotated ears OMIM:268310 ROR2 4920 HP:0100490 Camptodactyly of finger OMIM:268310 ROR2 4920 HP:0000054 Micropenis OMIM:268310 ROR2 4920 HP:0000527 Long eyelashes OMIM:268310 ROR2 4920 HP:0001702 Abnormality of the tricuspid valve OMIM:268310 ROR2 4920 HP:0000286 Epicanthus OMIM:268310 ROR2 4920 HP:0000055 Abnormality of female external genitalia OMIM:268310 ROR2 4920 HP:0000689 Dental malocclusion OMIM:268310 ROR2 4920 HP:0011800 Midface retrusion OMIM:268310 ROR2 4920 HP:0002714 Downturned corners of mouth OMIM:268310 ROR2 4920 HP:0000960 Sacral dimple OMIM:268310 ROR2 4920 HP:0012368 Flat face OMIM:268310 ROR2 4920 HP:0000494 Downslanted palpebral fissures OMIM:268310 ROR2 4920 HP:0003196 Short nose OMIM:268310 ROR2 4920 HP:0010296 Ankyloglossia OMIM:268310 ROR2 4920 HP:0003027 Mesomelia OMIM:268310 ROR2 4920 HP:0000059 Hypoplastic labia majora OMIM:268310 ROR2 4920 HP:0030084 Clinodactyly OMIM:268310 ROR2 4920 HP:0000207 Triangular mouth OMIM:268310 ROR2 4920 HP:0000772 Abnormality of the ribs OMIM:268310 ROR2 4920 HP:0000678 Dental crowding OMIM:268310 ROR2 4920 HP:0004220 Short middle phalanx of the 5th finger OMIM:268310 ROR2 4920 HP:0000520 Proptosis OMIM:268310 ROR2 4920 HP:0000202 Oral cleft OMIM:268310 ROR2 4920 HP:0004209 Clinodactyly of the 5th finger OMIM:268310 ROR2 4920 HP:0001705 Right ventricular outlet obstruction OMIM:268310 ROR2 4920 HP:0000212 Gingival overgrowth OMIM:268310 ROR2 4920 HP:0001679 Abnormality of the aorta OMIM:268310 ROR2 4920 HP:0000219 Thin upper lip vermilion OMIM:268310 ROR2 4920 HP:0002983 Micromelia OMIM:268310 ROR2 4920 HP:0006101 Finger syndactyly OMIM:268310 ROR2 4920 HP:0009804 Reduced number of teeth OMIM:268310 ROR2 4920 HP:0006482 Abnormality of dental morphology OMIM:268310 ROR2 4920 HP:0005048 Synostosis of carpal bones OMIM:268310 ROR2 4920 HP:0000126 Hydronephrosis OMIM:268310 ROR2 4920 HP:0000158 Macroglossia OMIM:268310 ROR2 4920 HP:0001837 Broad toe OMIM:268310 ROR2 4920 HP:0005280 Depressed nasal bridge OMIM:268310 ROR2 4920 HP:0001537 Umbilical hernia OMIM:268310 ROR2 4920 HP:0000316 Hypertelorism OMIM:268310 ROR2 4920 HP:0004322 Short stature OMIM:268310 ROR2 4920 HP:0002164 Nail dysplasia OMIM:268310 ROR2 4920 HP:0200055 Small hand OMIM:268310 ROR2 4920 HP:0000174 Abnormality of the palate OMIM:268310 ROR2 4920 HP:0000028 Cryptorchidism OMIM:268310 ROR2 4920 HP:0001156 Brachydactyly syndrome OMIM:268310 ROR2 4920 HP:0009602 Abnormality of thumb phalanx OMIM:268310 ROR2 4920 HP:0011304 Broad thumb OMIM:268310 ROR2 4920 HP:0004397 Ectopic anus OMIM:268310 ROR2 4920 HP:0000582 Upslanted palpebral fissure OMIM:268310 ROR2 4920 HP:0000369 Low-set ears OMIM:268310 ROR2 4920 HP:0000278 Retrognathia OMIM:268310 ROR2 4920 HP:0000637 Long palpebral fissure OMIM:268310 ROR2 4920 HP:0001263 Global developmental delay OMIM:268310 ROR2 4920 HP:0008467 Thoracic hemivertebrae OMIM:268310 ROR2 4920 HP:0001231 Abnormality of the fingernails OMIM:268310 ROR2 4920 HP:0002007 Frontal bossing OMIM:268310 ROR2 4920 HP:0002750 Delayed skeletal maturation OMIM:268310 ROR2 4920 HP:0000347 Micrognathia OMIM:268310 ROR2 4920 HP:0001631 Defect in the atrial septum OMIM:268310 ROR2 4920 HP:0001596 Alopecia OMIM:268310 ROR2 4920 HP:0001853 Bifid distal phalanx of toe OMIM:268310 ROR2 4920 HP:0004590 Hypoplastic sacrum OMIM:268310 ROR2 4920 HP:0000470 Short neck OMIM:268310 ROR2 4920 HP:0001852 Sandal gap OMIM:268310 ROR2 4920 HP:0002808 Kyphosis OMIM:268310 ROR2 4920 HP:0010292 Absent uvula OMIM:268310 ROR2 4920 HP:0000463 Anteverted nares OMIM:268310 ROR2 4920 HP:0000060 Clitoral hypoplasia OMIM:268310 ROR2 4920 HP:0000696 Delayed eruption of permanent teeth OMIM:268310 ROR2 4920 HP:0000023 Inguinal hernia OMIM:268310 ROR2 4920 HP:0000499 Abnormality of the eyelashes OMIM:268310 ROR2 4920 HP:0000388 Otitis media OMIM:268310 ROR2 4920 HP:0000592 Blue sclerae OMIM:268310 ROR2 4920 HP:0000767 Pectus excavatum OMIM:268310 ROR2 4920 HP:0001249 Intellectual disability OMIM:268310 ROR2 4920 HP:0003042 Elbow dislocation OMIM:268310 ROR2 4920 HP:0000343 Long philtrum OMIM:268310 ROR2 4920 HP:0000007 Autosomal recessive inheritance OMIM:268310 ROR2 4920 HP:0000768 Pectus carinatum OMIM:268310 ROR2 4920 HP:0001770 Toe syndactyly OMIM:268310 ROR2 4920 HP:0000272 Malar flattening OMIM:268310 ROR2 4920 HP:0000270 Delayed cranial suture closure OMIM:268310 ROR2 4920 HP:0000902 Rib fusion OMIM:268310 ROR2 4920 HP:0001641 Abnormality of the pulmonary valve OMIM:268310 ROR2 4920 HP:0009882 Short distal phalanx of finger OMIM:268310 ROR2 4920 HP:0002948 Vertebral fusion OMIM:268310 ROR2 4920 HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones OMIM:268310 ROR2 4920 HP:0000365 Hearing impairment OMIM:268310 ROR2 4920 HP:0001052 Nevus flammeus OMIM:268310 ROR2 4920 HP:0001171 Split hand OMIM:268310 ROR2 4920 HP:0000154 Wide mouth OMIM:268310 ROR2 4920 HP:0000003 Multicystic kidney dysplasia OMIM:268310 ROR2 4920 HP:0008736 Hypoplasia of penis OMIM:268310 ROR2 4920 HP:0000921 Missing ribs OMIM:268310 ROR2 4920 HP:0000486 Strabismus OMIM:268310 ROR2 4920 HP:0000954 Single transverse palmar crease OMIM:268310 ROR2 4920 HP:0004279 Short palm OMIM:268310 ROR2 4920 HP:0000431 Wide nasal bridge OMIM:268310 ROR2 4920 HP:0003422 Vertebral segmentation defect OMIM:268310 ROR2 4920 HP:0010297 Bifid tongue OMIM:268310 ROR2 4920 HP:0100543 Cognitive impairment OMIM:268310 ROR2 4920 HP:0000322 Short philtrum OMIM:268310 ROR2 4920 HP:0000256 Macrocephaly OMIM:268310 ROR2 4920 HP:0002263 Exaggerated cupid's bow OMIM:268310 ROR2 4920 HP:0001841 Preaxial foot polydactyly OMIM:268310 ROR2 4920 HP:0003272 Abnormality of the hip bone OMIM:268310 ROR2 4920 HP:0001636 Tetralogy of Fallot OMIM:268310 ROR2 4920 HP:0010804 Tented upper lip vermilion OMIM:268310 ROR2 4920 HP:0000508 Ptosis OMIM:268310 ROR2 4920 HP:0001629 Ventricular septal defect OMIM:268310 ROR2 4920 HP:0009883 Duplication of the distal phalanx of hand OMIM:268310 ROR2 4920 HP:0000358 Posteriorly rotated ears OMIM:268310 ROR2 4920 HP:0000260 Wide anterior fontanel OMIM:268310 ROR2 4920 HP:0011069 Increased number of teeth OMIM:268310 ROR2 4920 HP:0000075 Renal duplication OMIM:268310 ROR2 4920 HP:0009466 Radial deviation of finger OMIM:268310 ROR2 4920 HP:0002944 Thoracolumbar scoliosis OMIM:268310 ROR2 4920 HP:0002205 Recurrent respiratory infections OMIM:616040 SYT2 127833 HP:0003701 Proximal muscle weakness OMIM:616040 SYT2 127833 HP:0001761 Pes cavus OMIM:616040 SYT2 127833 HP:0001288 Gait disturbance OMIM:616040 SYT2 127833 HP:0000365 Hearing impairment OMIM:616040 SYT2 127833 HP:0001284 Areflexia OMIM:616040 SYT2 127833 HP:0001265 Hyporeflexia OMIM:616040 SYT2 127833 HP:0003202 Skeletal muscle atrophy OMIM:616040 SYT2 127833 HP:0001765 Hammertoe OMIM:616126 ISG15 9636 HP:0000007 Autosomal recessive inheritance OMIM:616126 ISG15 9636 HP:0011274 Recurrent mycobacterial infections ORPHANET:93388 GDF5 8200 HP:0001156 Brachydactyly syndrome ORPHANET:93388 GDF5 8200 HP:0002650 Scoliosis ORPHANET:93388 GDF5 8200 HP:0004322 Short stature ORPHANET:93388 GDF5 8200 HP:0001883 Talipes ORPHANET:93388 GDF5 8200 HP:0001163 Abnormality of the metacarpal bones ORPHANET:93388 GDF5 8200 HP:0009601 Aplasia/Hypoplasia of the thumb ORPHANET:93388 GDF5 8200 HP:0002997 Abnormality of the ulna ORPHANET:93388 GDF5 8200 HP:0009773 Symphalangism affecting the phalanges of the hand ORPHANET:93388 GDF5 8200 HP:0004209 Clinodactyly of the 5th finger ORPHANET:93388 GDF5 8200 HP:0010579 Cone-shaped epiphysis ORPHANET:93388 GDF5 8200 HP:0010109 Short hallux ORPHANET:93388 IHH 3549 HP:0001156 Brachydactyly syndrome ORPHANET:93388 IHH 3549 HP:0002650 Scoliosis ORPHANET:93388 IHH 3549 HP:0004322 Short stature ORPHANET:93388 IHH 3549 HP:0001883 Talipes ORPHANET:93388 IHH 3549 HP:0001163 Abnormality of the metacarpal bones ORPHANET:93388 IHH 3549 HP:0009601 Aplasia/Hypoplasia of the thumb ORPHANET:93388 IHH 3549 HP:0002997 Abnormality of the ulna ORPHANET:93388 IHH 3549 HP:0009773 Symphalangism affecting the phalanges of the hand ORPHANET:93388 IHH 3549 HP:0004209 Clinodactyly of the 5th finger ORPHANET:93388 IHH 3549 HP:0010579 Cone-shaped epiphysis ORPHANET:93388 IHH 3549 HP:0010109 Short hallux OMIM:601553 CDH3 1001 HP:0007754 Macular dystrophy OMIM:601553 CDH3 1001 HP:0004322 Short stature OMIM:601553 CDH3 1001 HP:0002813 Abnormality of limb bone morphology OMIM:601553 CDH3 1001 HP:0000618 Blindness OMIM:601553 CDH3 1001 HP:0000995 Melanocytic nevus OMIM:601553 CDH3 1001 HP:0003777 Pili torti OMIM:601553 CDH3 1001 HP:0000548 Cone-rod dystrophy OMIM:601553 CDH3 1001 HP:0000505 Visual impairment OMIM:601553 CDH3 1001 HP:0002652 Skeletal dysplasia OMIM:601553 CDH3 1001 HP:0000164 Abnormality of the teeth OMIM:601553 CDH3 1001 HP:0000962 Hyperkeratosis OMIM:601553 CDH3 1001 HP:0001006 Hypotrichosis OMIM:601553 CDH3 1001 HP:0000639 Nystagmus OMIM:601553 CDH3 1001 HP:0001103 Abnormality of the macula OMIM:601553 CDH3 1001 HP:0011362 Abnormal hair quantity OMIM:601553 CDH3 1001 HP:0002213 Fine hair OMIM:601553 CDH3 1001 HP:0100326 Immunologic hypersensitivity OMIM:601553 CDH3 1001 HP:0001480 Freckling OMIM:601553 CDH3 1001 HP:0000007 Autosomal recessive inheritance OMIM:601553 CDH3 1001 HP:0001597 Abnormality of the nail OMIM:603956 FGFR3 2261 HP:0003319 Abnormality of the cervical spine OMIM:603956 FGFR3 2261 HP:0002664 Neoplasm OMIM:309583 SMS 6611 HP:0001249 Intellectual disability OMIM:309583 SMS 6611 HP:0003199 Decreased muscle mass OMIM:309583 SMS 6611 HP:0011003 Severe Myopia OMIM:309583 SMS 6611 HP:0000768 Pectus carinatum OMIM:309583 SMS 6611 HP:0001252 Muscular hypotonia OMIM:309583 SMS 6611 HP:0000324 Facial asymmetry OMIM:309583 SMS 6611 HP:0100807 Long fingers OMIM:309583 SMS 6611 HP:0000316 Hypertelorism OMIM:309583 SMS 6611 HP:0001419 X-linked recessive inheritance OMIM:309583 SMS 6611 HP:0000028 Cryptorchidism OMIM:309583 SMS 6611 HP:0001260 Dysarthria OMIM:309583 SMS 6611 HP:0001847 Long hallux OMIM:309583 SMS 6611 HP:0000303 Mandibular prognathia OMIM:309583 SMS 6611 HP:0001187 Hyperextensibility of the finger joints OMIM:309583 SMS 6611 HP:0011302 Long palm OMIM:309583 SMS 6611 HP:0003812 Phenotypic variability OMIM:309583 SMS 6611 HP:0002136 Broad-based gait OMIM:309583 SMS 6611 HP:0001250 Seizures OMIM:309583 SMS 6611 HP:0000098 Tall stature OMIM:309583 SMS 6611 HP:0002751 Kyphoscoliosis OMIM:309583 SMS 6611 HP:0000465 Webbed neck OMIM:309583 SMS 6611 HP:0000377 Abnormality of the pinna OMIM:309583 SMS 6611 HP:0006610 Wide intermamillary distance OMIM:309583 SMS 6611 HP:0001762 Talipes equinovarus OMIM:309583 SMS 6611 HP:0004283 Narrow palm OMIM:309583 SMS 6611 HP:0000939 Osteoporosis OMIM:309583 SMS 6611 HP:0002757 Recurrent fractures OMIM:309583 SMS 6611 HP:0000767 Pectus excavatum OMIM:309583 SMS 6611 HP:0000179 Thick lower lip vermilion OMIM:309583 SMS 6611 HP:0000322 Short philtrum OMIM:309583 SMS 6611 HP:0002705 High, narrow palate OMIM:309583 SMS 6611 HP:0000193 Bifid uvula OMIM:309583 SMS 6611 HP:0000678 Dental crowding OMIM:309583 SMS 6611 HP:0004322 Short stature OMIM:309583 SMS 6611 HP:0001611 Nasal speech OMIM:309583 SMS 6611 HP:0000175 Cleft palate OMIM:154500 TCOF1 6949 HP:0000197 Abnormality of parotid gland OMIM:154500 TCOF1 6949 HP:0000006 Autosomal dominant inheritance OMIM:154500 TCOF1 6949 HP:0000486 Strabismus OMIM:154500 TCOF1 6949 HP:0000384 Preauricular skin tag OMIM:154500 TCOF1 6949 HP:0007776 Sparse lower eyelashes OMIM:154500 TCOF1 6949 HP:0000636 Upper eyelid coloboma OMIM:154500 TCOF1 6949 HP:0000028 Cryptorchidism OMIM:154500 TCOF1 6949 HP:0000572 Visual loss OMIM:154500 TCOF1 6949 HP:0007633 Bilateral microphthalmos OMIM:154500 TCOF1 6949 HP:0000377 Abnormality of the pinna OMIM:154500 TCOF1 6949 HP:0000154 Wide mouth OMIM:154500 TCOF1 6949 HP:0001249 Intellectual disability OMIM:154500 TCOF1 6949 HP:0009554 Projection of scalp hair onto lateral cheek OMIM:154500 TCOF1 6949 HP:0000347 Micrognathia OMIM:154500 TCOF1 6949 HP:0000405 Conductive hearing impairment OMIM:154500 TCOF1 6949 HP:0000372 Abnormality of the auditory canal OMIM:154500 TCOF1 6949 HP:0000652 Lower eyelid coloboma OMIM:154500 TCOF1 6949 HP:0000185 Cleft soft palate OMIM:154500 TCOF1 6949 HP:0000494 Downslanted palpebral fissures OMIM:154500 TCOF1 6949 HP:0000453 Choanal atresia OMIM:154500 TCOF1 6949 HP:0000508 Ptosis OMIM:154500 TCOF1 6949 HP:0000272 Malar flattening OMIM:154500 TCOF1 6949 HP:0009555 Hypoplasia of the pharynx OMIM:154500 TCOF1 6949 HP:0000160 Narrow mouth OMIM:154500 TCOF1 6949 HP:0007678 Lacrimal duct stenosis OMIM:154500 TCOF1 6949 HP:0002564 Malformation of the heart and great vessels ORPHANET:393 SRY 6736 HP:0000035 Abnormality of the testis ORPHANET:393 SRY 6736 HP:0000062 Ambiguous genitalia ORPHANET:393 SRY 6736 HP:0000147 Polycystic ovaries ORPHANET:393 SOX9 6662 HP:0000035 Abnormality of the testis ORPHANET:393 SOX9 6662 HP:0000062 Ambiguous genitalia ORPHANET:393 SOX9 6662 HP:0000147 Polycystic ovaries ORPHANET:393 SOX3 6658 HP:0000035 Abnormality of the testis ORPHANET:393 SOX3 6658 HP:0000062 Ambiguous genitalia ORPHANET:393 SOX3 6658 HP:0000147 Polycystic ovaries OMIM:615373 PRDM16 63976 HP:0011675 Arrhythmia OMIM:615373 PRDM16 63976 HP:0001711 Abnormality of the left ventricle OMIM:615373 PRDM16 63976 HP:0000006 Autosomal dominant inheritance OMIM:615373 PRDM16 63976 HP:0001653 Mitral regurgitation OMIM:615373 PRDM16 63976 HP:0001644 Dilated cardiomyopathy OMIM:616399 KCND3 3752 HP:0001962 Palpitations OMIM:300260 MECP2 4204 HP:0002015 Dysphagia OMIM:300260 MECP2 4204 HP:0005280 Depressed nasal bridge OMIM:300260 MECP2 4204 HP:0002020 Gastroesophageal reflux OMIM:300260 MECP2 4204 HP:0011344 Severe global developmental delay OMIM:300260 MECP2 4204 HP:0000716 Depression OMIM:300260 MECP2 4204 HP:0002191 Progressive spasticity OMIM:300260 MECP2 4204 HP:0003676 Progressive disorder OMIM:300260 MECP2 4204 HP:0002307 Drooling OMIM:300260 MECP2 4204 HP:0000252 Microcephaly OMIM:300260 MECP2 4204 HP:0001249 Intellectual disability OMIM:300260 MECP2 4204 HP:0000297 Facial hypotonia OMIM:300260 MECP2 4204 HP:0000817 Poor eye contact OMIM:300260 MECP2 4204 HP:0003763 Bruxism OMIM:300260 MECP2 4204 HP:0001939 Abnormality of metabolism/homeostasis OMIM:300260 MECP2 4204 HP:0000739 Anxiety OMIM:300260 MECP2 4204 HP:0001250 Seizures OMIM:300260 MECP2 4204 HP:0000369 Low-set ears OMIM:300260 MECP2 4204 HP:0000272 Malar flattening OMIM:300260 MECP2 4204 HP:0000164 Abnormality of the teeth OMIM:300260 MECP2 4204 HP:0001344 Absent speech OMIM:300260 MECP2 4204 HP:0001419 X-linked recessive inheritance OMIM:300260 MECP2 4204 HP:0000028 Cryptorchidism OMIM:300260 MECP2 4204 HP:0002019 Constipation OMIM:300260 MECP2 4204 HP:0008947 Infantile muscular hypotonia OMIM:300260 MECP2 4204 HP:0000400 Macrotia OMIM:300260 MECP2 4204 HP:0002072 Chorea OMIM:300260 MECP2 4204 HP:0002205 Recurrent respiratory infections OMIM:300260 MECP2 4204 HP:0000248 Brachycephaly OMIM:300260 MECP2 4204 HP:0002063 Rigidity OMIM:300260 MECP2 4204 HP:0010804 Tented upper lip vermilion OMIM:300260 MECP2 4204 HP:0000256 Macrocephaly OMIM:300260 MECP2 4204 HP:0000160 Narrow mouth OMIM:300260 MECP2 4204 HP:0001251 Ataxia OMIM:133780 FZD4 8322 HP:0007685 Peripheral retinal avascularization OMIM:133780 FZD4 8322 HP:0001146 Pigmentary retinal degeneration OMIM:133780 FZD4 8322 HP:0001489 Vitreous detachment OMIM:133780 FZD4 8322 HP:0000618 Blindness OMIM:133780 FZD4 8322 HP:0000541 Retinal detachment OMIM:133780 FZD4 8322 HP:0002757 Recurrent fractures OMIM:133780 FZD4 8322 HP:0003593 Infantile onset OMIM:133780 FZD4 8322 HP:0007902 Vitreous hemorrhage OMIM:133780 FZD4 8322 HP:0003677 Slow progression OMIM:133780 FZD4 8322 HP:0001493 Falciform retinal fold OMIM:133780 FZD4 8322 HP:0000006 Autosomal dominant inheritance OMIM:133780 FZD4 8322 HP:0001147 Retinal exudate OMIM:133780 FZD4 8322 HP:0000523 Subcapsular cataract OMIM:616083 ZMYND11 10771 HP:0000154 Wide mouth OMIM:616083 ZMYND11 10771 HP:0000718 Aggressive behavior OMIM:616083 ZMYND11 10771 HP:0000316 Hypertelorism OMIM:616083 ZMYND11 10771 HP:0001249 Intellectual disability OMIM:616083 ZMYND11 10771 HP:0001263 Global developmental delay OMIM:616083 ZMYND11 10771 HP:0001999 Abnormal facial shape OMIM:607654 KRT1 3848 HP:0000006 Autosomal dominant inheritance OMIM:607654 KRT1 3848 HP:0000982 Palmoplantar keratoderma OMIM:614098 KCNJ6 3763 HP:0001347 Hyperreflexia OMIM:614098 KCNJ6 3763 HP:0000430 Underdeveloped nasal alae OMIM:614098 KCNJ6 3763 HP:0010804 Tented upper lip vermilion OMIM:614098 KCNJ6 3763 HP:0005328 Progeroid facial appearance OMIM:614098 KCNJ6 3763 HP:0010864 Intellectual disability, severe OMIM:614098 KCNJ6 3763 HP:0001276 Hypertonia OMIM:614098 KCNJ6 3763 HP:0000194 Open mouth OMIM:614098 KCNJ6 3763 HP:0002373 Febrile seizures OMIM:614098 KCNJ6 3763 HP:0001285 Spastic tetraparesis OMIM:614098 KCNJ6 3763 HP:0000520 Proptosis OMIM:614098 KCNJ6 3763 HP:0001371 Flexion contracture OMIM:614098 KCNJ6 3763 HP:0001508 Failure to thrive OMIM:614098 KCNJ6 3763 HP:0000252 Microcephaly OMIM:614098 KCNJ6 3763 HP:0002650 Scoliosis OMIM:614098 KCNJ6 3763 HP:0009064 Generalized lipodystrophy OMIM:614098 KCNJ6 3763 HP:0007485 Absence of subcutaneous fat OMIM:614098 KCNJ6 3763 HP:0000322 Short philtrum OMIM:614098 KCNJ6 3763 HP:0000347 Micrognathia OMIM:614098 KCNJ6 3763 HP:0001090 Large eyes OMIM:614098 KCNJ6 3763 HP:0000218 High palate OMIM:125700 AVP 551 HP:0000938 Osteopenia OMIM:125700 AVP 551 HP:0002171 Gliosis OMIM:125700 AVP 551 HP:0000343 Long philtrum OMIM:125700 AVP 551 HP:0000316 Hypertelorism OMIM:125700 AVP 551 HP:0000445 Wide nose OMIM:125700 AVP 551 HP:0000006 Autosomal dominant inheritance OMIM:125700 AVP 551 HP:0003196 Short nose OMIM:125700 AVP 551 HP:0001939 Abnormality of metabolism/homeostasis OMIM:125700 AVP 551 HP:0000863 Central diabetes insipidus OMIM:151440 LYL1 4066 HP:0001444 Autosomal dominant somatic cell mutation OMIM:151440 LYL1 4066 HP:0005526 Lymphoid leukemia OMIM:608443 CC2D1A 54862 HP:0010864 Intellectual disability, severe OMIM:608443 CC2D1A 54862 HP:0000752 Hyperactivity OMIM:608443 CC2D1A 54862 HP:0000338 Hypomimic face OMIM:608443 CC2D1A 54862 HP:0000736 Short attention span OMIM:608443 CC2D1A 54862 HP:0001263 Global developmental delay OMIM:608443 CC2D1A 54862 HP:0000007 Autosomal recessive inheritance OMIM:608443 CC2D1A 54862 HP:0003621 Juvenile onset OMIM:608443 CC2D1A 54862 HP:0006887 Intellectual disability, progressive OMIM:608443 CC2D1A 54862 HP:0002546 Incomprehensible speech OMIM:115210 TNNI3 7137 HP:0002119 Ventriculomegaly OMIM:115210 TNNI3 7137 HP:0001723 Restrictive cardiomyopathy OMIM:115210 TNNI3 7137 HP:0000006 Autosomal dominant inheritance OMIM:611182 COG8 84342 HP:0003236 Elevated serum creatine phosphokinase OMIM:611182 COG8 84342 HP:0001249 Intellectual disability OMIM:611182 COG8 84342 HP:0000007 Autosomal recessive inheritance OMIM:611182 COG8 84342 HP:0008150 Elevated serum transaminases during infections OMIM:611182 COG8 84342 HP:0001298 Encephalopathy OMIM:611182 COG8 84342 HP:0001252 Muscular hypotonia OMIM:611182 COG8 84342 HP:0001137 Alternating esotropia OMIM:611182 COG8 84342 HP:0002119 Ventriculomegaly OMIM:611182 COG8 84342 HP:0002133 Status epilepticus OMIM:611182 COG8 84342 HP:0001272 Cerebellar atrophy ORPHANET:63260 DACT1 51339 HP:0000776 Congenital diaphragmatic hernia ORPHANET:63260 DACT1 51339 HP:0010497 Sirenomelia ORPHANET:63260 DACT1 51339 HP:0002414 Spina bifida ORPHANET:63260 DACT1 51339 HP:0002323 Anencephaly ORPHANET:63260 DACT1 51339 HP:0100589 Urogenital fistula ORPHANET:63260 DACT1 51339 HP:0001539 Omphalocele OMIM:162210 NF1 4763 HP:0007340 Lower limb muscle weakness OMIM:162210 NF1 4763 HP:0006851 Symmetric spinal nerve root neurofibromas OMIM:162210 NF1 4763 HP:0000006 Autosomal dominant inheritance OMIM:162210 NF1 4763 HP:0000957 Cafe-au-lait spot OMIM:162210 NF1 4763 HP:0002385 Paraparesis OMIM:162210 NF1 4763 HP:0001480 Freckling OMIM:162210 NF1 4763 HP:0009737 Lisch nodules OMIM:162210 NF1 4763 HP:0010302 Spinal cord tumor OMIM:600649 CPT2 1376 HP:0001250 Seizures OMIM:600649 CPT2 1376 HP:0001403 Macrovesicular hepatic steatosis OMIM:600649 CPT2 1376 HP:0001943 Hypoglycemia OMIM:600649 CPT2 1376 HP:0005943 Respiratory arrest OMIM:600649 CPT2 1376 HP:0001399 Hepatic failure OMIM:600649 CPT2 1376 HP:0002910 Elevated hepatic transaminases OMIM:600649 CPT2 1376 HP:0002013 Vomiting OMIM:600649 CPT2 1376 HP:0003198 Myopathy OMIM:600649 CPT2 1376 HP:0001639 Hypertrophic cardiomyopathy OMIM:600649 CPT2 1376 HP:0002240 Hepatomegaly OMIM:600649 CPT2 1376 HP:0001987 Hyperammonemia OMIM:600649 CPT2 1376 HP:0011675 Arrhythmia OMIM:600649 CPT2 1376 HP:0002017 Nausea and vomiting OMIM:600649 CPT2 1376 HP:0001640 Cardiomegaly OMIM:600649 CPT2 1376 HP:0001985 Hypoketotic hypoglycemia OMIM:600649 CPT2 1376 HP:0001254 Lethargy OMIM:600649 CPT2 1376 HP:0000007 Autosomal recessive inheritance OMIM:600649 CPT2 1376 HP:0003236 Elevated serum creatine phosphokinase OMIM:600649 CPT2 1376 HP:0001644 Dilated cardiomyopathy OMIM:600649 CPT2 1376 HP:0003593 Infantile onset OMIM:615206 CARD11 84433 HP:0002721 Immunodeficiency OMIM:615206 CARD11 84433 HP:0004313 Hypogammaglobulinemia OMIM:615206 CARD11 84433 HP:0002090 Pneumonia OMIM:615206 CARD11 84433 HP:0000007 Autosomal recessive inheritance OMIM:615206 CARD11 84433 HP:0002205 Recurrent respiratory infections OMIM:615206 CARD11 84433 HP:0003593 Infantile onset OMIM:244450 UBE3B 89910 HP:0002093 Respiratory insufficiency OMIM:244450 UBE3B 89910 HP:0000648 Optic atrophy OMIM:244450 UBE3B 89910 HP:0003300 Ovoid vertebral bodies OMIM:244450 UBE3B 89910 HP:0002019 Constipation OMIM:244450 UBE3B 89910 HP:0000154 Wide mouth OMIM:244450 UBE3B 89910 HP:0000545 Myopia OMIM:244450 UBE3B 89910 HP:0000384 Preauricular skin tag OMIM:244450 UBE3B 89910 HP:0100543 Cognitive impairment OMIM:244450 UBE3B 89910 HP:0000582 Upslanted palpebral fissure OMIM:244450 UBE3B 89910 HP:0000347 Micrognathia OMIM:244450 UBE3B 89910 HP:0000670 Carious teeth OMIM:244450 UBE3B 89910 HP:0004209 Clinodactyly of the 5th finger OMIM:244450 UBE3B 89910 HP:0001591 Bell-shaped thorax OMIM:244450 UBE3B 89910 HP:0000543 Optic disc pallor OMIM:244450 UBE3B 89910 HP:0000057 Clitoromegaly OMIM:244450 UBE3B 89910 HP:0006511 Laryngeal stridor OMIM:244450 UBE3B 89910 HP:0000506 Telecanthus OMIM:244450 UBE3B 89910 HP:0000276 Long face OMIM:244450 UBE3B 89910 HP:0000007 Autosomal recessive inheritance OMIM:244450 UBE3B 89910 HP:0002643 Neonatal respiratory distress OMIM:244450 UBE3B 89910 HP:0000286 Epicanthus OMIM:244450 UBE3B 89910 HP:0010458 Female pseudohermaphroditism OMIM:244450 UBE3B 89910 HP:0000174 Abnormality of the palate OMIM:244450 UBE3B 89910 HP:0000275 Narrow face OMIM:244450 UBE3B 89910 HP:0000691 Microdontia OMIM:244450 UBE3B 89910 HP:0000486 Strabismus OMIM:244450 UBE3B 89910 HP:0000319 Smooth philtrum OMIM:244450 UBE3B 89910 HP:0001249 Intellectual disability OMIM:244450 UBE3B 89910 HP:0000639 Nystagmus OMIM:244450 UBE3B 89910 HP:0001840 Metatarsus adductus OMIM:244450 UBE3B 89910 HP:0011302 Long palm OMIM:244450 UBE3B 89910 HP:0001252 Muscular hypotonia OMIM:244450 UBE3B 89910 HP:0000581 Blepharophimosis OMIM:244450 UBE3B 89910 HP:0000508 Ptosis OMIM:244450 UBE3B 89910 HP:0001166 Arachnodactyly OMIM:244450 UBE3B 89910 HP:0010511 Long toe OMIM:244450 UBE3B 89910 HP:0000699 Diastema OMIM:244450 UBE3B 89910 HP:0000954 Single transverse palmar crease OMIM:244450 UBE3B 89910 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:244450 UBE3B 89910 HP:0000248 Brachycephaly OMIM:244450 UBE3B 89910 HP:0000482 Microcornea OMIM:244450 UBE3B 89910 HP:0001139 Choroideremia OMIM:244450 UBE3B 89910 HP:0004283 Narrow palm OMIM:244450 UBE3B 89910 HP:0000252 Microcephaly OMIM:244450 UBE3B 89910 HP:0000535 Sparse eyebrow OMIM:244450 UBE3B 89910 HP:0000322 Short philtrum OMIM:244450 UBE3B 89910 HP:0001324 Muscle weakness OMIM:244450 UBE3B 89910 HP:0000233 Thin vermilion border OMIM:244450 UBE3B 89910 HP:0000219 Thin upper lip vermilion OMIM:244450 UBE3B 89910 HP:0003196 Short nose OMIM:244450 UBE3B 89910 HP:0002648 Abnormality of calvarial morphology OMIM:244450 UBE3B 89910 HP:0000218 High palate OMIM:181030 PLAG1 5324 HP:0000006 Autosomal dominant inheritance OMIM:181030 PLAG1 5324 HP:0100684 Salivary gland neoplasm OMIM:141800 HBA1 3039 HP:0005511 Heinz body anemia OMIM:141800 HBA1 3039 HP:0012119 Methemoglobinemia OMIM:141800 HBA1 3039 HP:0000952 Jaundice OMIM:141800 HBA1 3039 HP:0000961 Cyanosis OMIM:141800 HBA1 3039 HP:0001901 Polycythemia OMIM:141800 HBA1 3039 HP:0000006 Autosomal dominant inheritance OMIM:141800 HBA1 3039 HP:0011907 Reduced alpha/beta synthesis ratio OMIM:141800 HBA1 3039 HP:0004840 Hypochromic microcytic anemia OMIM:613862 MERTK 10461 HP:0000543 Optic disc pallor OMIM:613862 MERTK 10461 HP:0000007 Autosomal recessive inheritance OMIM:613862 MERTK 10461 HP:0000662 Night blindness OMIM:613862 MERTK 10461 HP:0200070 Peripheral retinal atrophy OMIM:613862 MERTK 10461 HP:0000529 Progressive visual loss OMIM:613862 MERTK 10461 HP:0000510 Retinitis pigmentosa OMIM:231900 GSS 2937 HP:0000007 Autosomal recessive inheritance OMIM:231900 GSS 2937 HP:0003343 Glutathione synthetase deficiency OMIM:231900 GSS 2937 HP:0003258 Glyoxalase deficiency OMIM:231900 GSS 2937 HP:0001878 Hemolytic anemia OMIM:239200 CASR 846 HP:0003355 Aminoaciduria OMIM:239200 CASR 846 HP:0002150 Hypercalciuria OMIM:239200 CASR 846 HP:0000944 Abnormality of the metaphyses OMIM:239200 CASR 846 HP:0003025 Metaphyseal irregularity OMIM:239200 CASR 846 HP:0002148 Hypophosphatemia OMIM:239200 CASR 846 HP:0001959 Polydipsia OMIM:239200 CASR 846 HP:0001903 Anemia OMIM:239200 CASR 846 HP:0001508 Failure to thrive OMIM:239200 CASR 846 HP:0002094 Dyspnea OMIM:239200 CASR 846 HP:0000103 Polyuria OMIM:239200 CASR 846 HP:0003109 Hyperphosphaturia OMIM:239200 CASR 846 HP:0003072 Hypercalcemia OMIM:239200 CASR 846 HP:0002240 Hepatomegaly OMIM:239200 CASR 846 HP:0001252 Muscular hypotonia OMIM:239200 CASR 846 HP:0002019 Constipation OMIM:239200 CASR 846 HP:0008872 Feeding difficulties in infancy OMIM:239200 CASR 846 HP:0012211 Abnormal renal physiology OMIM:239200 CASR 846 HP:0002757 Recurrent fractures OMIM:239200 CASR 846 HP:0000843 Hyperparathyroidism OMIM:239200 CASR 846 HP:0004322 Short stature OMIM:239200 CASR 846 HP:0001744 Splenomegaly OMIM:239200 CASR 846 HP:0000774 Narrow chest OMIM:239200 CASR 846 HP:0003165 Elevated circulating parathyroid hormone (PTH) level OMIM:239200 CASR 846 HP:0003761 Calcinosis OMIM:239200 CASR 846 HP:0002789 Tachypnea OMIM:239200 CASR 846 HP:0100530 Abnormality of calcium-phosphate metabolism OMIM:239200 CASR 846 HP:0008200 Primary hyperparathyroidism OMIM:616116 NDST1 3340 HP:0001250 Seizures OMIM:616116 NDST1 3340 HP:0002360 Sleep disturbance OMIM:616116 NDST1 3340 HP:0001252 Muscular hypotonia OMIM:616116 NDST1 3340 HP:0002465 Poor speech OMIM:616116 NDST1 3340 HP:0000718 Aggressive behavior OMIM:616116 NDST1 3340 HP:0000713 Agitation OMIM:616116 NDST1 3340 HP:0001510 Growth delay OMIM:616116 NDST1 3340 HP:0001263 Global developmental delay OMIM:616116 NDST1 3340 HP:0001249 Intellectual disability OMIM:604804 CDK5RAP2 55755 HP:0000007 Autosomal recessive inheritance OMIM:604804 CDK5RAP2 55755 HP:0000407 Sensorineural hearing impairment OMIM:604804 CDK5RAP2 55755 HP:0002342 Intellectual disability, moderate OMIM:604804 CDK5RAP2 55755 HP:0000520 Proptosis OMIM:604804 CDK5RAP2 55755 HP:0002472 Small cerebral cortex OMIM:604804 CDK5RAP2 55755 HP:0001263 Global developmental delay OMIM:604804 CDK5RAP2 55755 HP:0000340 Sloping forehead OMIM:604804 CDK5RAP2 55755 HP:0009879 Cortical gyral simplification OMIM:604804 CDK5RAP2 55755 HP:0000252 Microcephaly OMIM:606713 GRHL3 57822 HP:0000674 Anodontia OMIM:606713 GRHL3 57822 HP:0000175 Cleft palate OMIM:606713 GRHL3 57822 HP:0000204 Cleft upper lip OMIM:606713 GRHL3 57822 HP:0000006 Autosomal dominant inheritance OMIM:203800 ALMS1 7840 HP:0000822 Hypertension OMIM:203800 ALMS1 7840 HP:0001639 Hypertrophic cardiomyopathy OMIM:203800 ALMS1 7840 HP:0000842 Hyperinsulinemia OMIM:203800 ALMS1 7840 HP:0002149 Hyperuricemia OMIM:203800 ALMS1 7840 HP:0000091 Abnormality of the renal tubule OMIM:203800 ALMS1 7840 HP:0004438 Hyperostosis frontalis interna OMIM:203800 ALMS1 7840 HP:0000717 Autism OMIM:203800 ALMS1 7840 HP:0100817 Renovascular hypertension OMIM:203800 ALMS1 7840 HP:0002092 Pulmonary hypertension OMIM:203800 ALMS1 7840 HP:0000230 Gingivitis OMIM:203800 ALMS1 7840 HP:0003119 Abnormality of lipid metabolism OMIM:203800 ALMS1 7840 HP:0000147 Polycystic ovaries OMIM:203800 ALMS1 7840 HP:0100543 Cognitive impairment OMIM:203800 ALMS1 7840 HP:0002099 Asthma OMIM:203800 ALMS1 7840 HP:0000956 Acanthosis nigricans OMIM:203800 ALMS1 7840 HP:0000858 Menstrual irregularities OMIM:203800 ALMS1 7840 HP:0100626 Chronic hepatic failure OMIM:203800 ALMS1 7840 HP:0000523 Subcapsular cataract OMIM:203800 ALMS1 7840 HP:0000518 Cataract OMIM:203800 ALMS1 7840 HP:0001409 Portal hypertension OMIM:203800 ALMS1 7840 HP:0002650 Scoliosis OMIM:203800 ALMS1 7840 HP:0000722 Obsessive-compulsive behavior OMIM:203800 ALMS1 7840 HP:0009124 Abnormality of adipose tissue OMIM:203800 ALMS1 7840 HP:0005978 Type II diabetes mellitus OMIM:203800 ALMS1 7840 HP:0001263 Global developmental delay OMIM:203800 ALMS1 7840 HP:0000639 Nystagmus OMIM:203800 ALMS1 7840 HP:0000821 Hypothyroidism OMIM:203800 ALMS1 7840 HP:0006532 Recurrent pneumonia OMIM:203800 ALMS1 7840 HP:0000532 Chorioretinal abnormality OMIM:203800 ALMS1 7840 HP:0000164 Abnormality of the teeth OMIM:203800 ALMS1 7840 HP:0002155 Hypertriglyceridemia OMIM:203800 ALMS1 7840 HP:0002910 Elevated hepatic transaminases OMIM:203800 ALMS1 7840 HP:0001397 Hepatic steatosis OMIM:203800 ALMS1 7840 HP:0002206 Pulmonary fibrosis OMIM:203800 ALMS1 7840 HP:0001956 Truncal obesity OMIM:203800 ALMS1 7840 HP:0000007 Autosomal recessive inheritance OMIM:203800 ALMS1 7840 HP:0000083 Renal insufficiency OMIM:203800 ALMS1 7840 HP:0001970 Tubulointerstitial nephritis OMIM:203800 ALMS1 7840 HP:0000407 Sensorineural hearing impairment OMIM:203800 ALMS1 7840 HP:0000873 Diabetes insipidus OMIM:203800 ALMS1 7840 HP:0000795 Abnormality of the urethra OMIM:203800 ALMS1 7840 HP:0000388 Otitis media OMIM:203800 ALMS1 7840 HP:0000035 Abnormality of the testis OMIM:203800 ALMS1 7840 HP:0001644 Dilated cardiomyopathy OMIM:203800 ALMS1 7840 HP:0000144 Decreased fertility OMIM:203800 ALMS1 7840 HP:0002240 Hepatomegaly OMIM:203800 ALMS1 7840 HP:0000824 Growth hormone deficiency OMIM:203800 ALMS1 7840 HP:0000311 Round face OMIM:203800 ALMS1 7840 HP:0000123 Nephritis OMIM:203800 ALMS1 7840 HP:0001596 Alopecia OMIM:203800 ALMS1 7840 HP:0000055 Abnormality of female external genitalia OMIM:203800 ALMS1 7840 HP:0004322 Short stature OMIM:203800 ALMS1 7840 HP:0000505 Visual impairment OMIM:203800 ALMS1 7840 HP:0000548 Cone-rod dystrophy OMIM:203800 ALMS1 7840 HP:0000613 Photophobia OMIM:203800 ALMS1 7840 HP:0000490 Deeply set eye OMIM:203800 ALMS1 7840 HP:0000408 Progressive sensorineural hearing impairment OMIM:203800 ALMS1 7840 HP:0000771 Gynecomastia OMIM:203800 ALMS1 7840 HP:0001155 Abnormality of the hand OMIM:203800 ALMS1 7840 HP:0000580 Pigmentary retinopathy OMIM:203800 ALMS1 7840 HP:0001635 Congestive heart failure OMIM:203800 ALMS1 7840 HP:0001394 Cirrhosis OMIM:203800 ALMS1 7840 HP:0000618 Blindness OMIM:203800 ALMS1 7840 HP:0200120 Chronic active hepatitis OMIM:203800 ALMS1 7840 HP:0002093 Respiratory insufficiency OMIM:203800 ALMS1 7840 HP:0000998 Hypertrichosis OMIM:203800 ALMS1 7840 HP:0001250 Seizures OMIM:203800 ALMS1 7840 HP:0000831 Insulin-resistant diabetes mellitus OMIM:203800 ALMS1 7840 HP:0001763 Pes planus OMIM:203800 ALMS1 7840 HP:0001744 Splenomegaly OMIM:203800 ALMS1 7840 HP:0000815 Hypergonadotropic hypogonadism OMIM:203800 ALMS1 7840 HP:0002621 Atherosclerosis OMIM:203800 ALMS1 7840 HP:0005616 Accelerated skeletal maturation OMIM:203800 ALMS1 7840 HP:0002205 Recurrent respiratory infections OMIM:203800 ALMS1 7840 HP:0000076 Vesicoureteral reflux OMIM:203800 ALMS1 7840 HP:0100820 Glomerulopathy OMIM:203800 ALMS1 7840 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:203800 ALMS1 7840 HP:0000855 Insulin resistance OMIM:203800 ALMS1 7840 HP:0002808 Kyphosis OMIM:203800 ALMS1 7840 HP:0000121 Nephrocalcinosis OMIM:203800 ALMS1 7840 HP:0000826 Precocious puberty OMIM:203800 ALMS1 7840 HP:0003233 Hypoalphalipoproteinemia OMIM:203800 ALMS1 7840 HP:0005987 Multinodular goiter OMIM:609162 COL2A1 1280 HP:0100864 Short femoral neck OMIM:609162 COL2A1 1280 HP:0003370 Flat capital femoral epiphysis OMIM:609162 COL2A1 1280 HP:0002650 Scoliosis OMIM:609162 COL2A1 1280 HP:0001507 Growth abnormality OMIM:609162 COL2A1 1280 HP:0002945 Intervertebral space narrowing OMIM:609162 COL2A1 1280 HP:0003301 Irregular vertebral endplates OMIM:609162 COL2A1 1280 HP:0000926 Platyspondyly OMIM:609162 COL2A1 1280 HP:0010743 Short metatarsal OMIM:609162 COL2A1 1280 HP:0000006 Autosomal dominant inheritance OMIM:609162 COL2A1 1280 HP:0002868 Narrow iliac wings OMIM:609162 COL2A1 1280 HP:0010049 Short metacarpal OMIM:609162 COL2A1 1280 HP:0001371 Flexion contracture OMIM:609162 COL2A1 1280 HP:0002942 Thoracic kyphosis OMIM:609162 COL2A1 1280 HP:0008819 Narrow femoral neck OMIM:609162 COL2A1 1280 HP:0002829 Arthralgia OMIM:609162 COL2A1 1280 HP:0002812 Coxa vara OMIM:609162 COL2A1 1280 HP:0001831 Short toe OMIM:609162 COL2A1 1280 HP:0002515 Waddling gait OMIM:311010 ARAF 369 HP:0001939 Abnormality of metabolism/homeostasis OMIM:311010 ARAF 369 HP:0100242 Sarcoma OMIM:311010 ARAF 369 HP:0001417 X-linked inheritance OMIM:613105 PRPH2 5961 HP:0000006 Autosomal dominant inheritance OMIM:613105 PRPH2 5961 HP:0007712 Choroidal dystrophy OMIM:613105 PRPH2 5961 HP:0000613 Photophobia OMIM:252010 NDUFAF3 25915 HP:0002878 Respiratory failure OMIM:252010 NDUFAF3 25915 HP:0000618 Blindness OMIM:252010 NDUFAF3 25915 HP:0001254 Lethargy OMIM:252010 NDUFAF3 25915 HP:0000639 Nystagmus OMIM:252010 NDUFAF3 25915 HP:0000486 Strabismus OMIM:252010 NDUFAF3 25915 HP:0003202 Skeletal muscle atrophy OMIM:252010 NDUFAF3 25915 HP:0002013 Vomiting OMIM:252010 NDUFAF3 25915 HP:0003128 Lactic acidosis OMIM:252010 NDUFAF3 25915 HP:0000508 Ptosis OMIM:252010 NDUFAF3 25915 HP:0006965 Acute necrotizing encephalopathy OMIM:252010 NDUFAF3 25915 HP:0001252 Muscular hypotonia OMIM:252010 NDUFAF3 25915 HP:0000007 Autosomal recessive inheritance OMIM:252010 NDUFAF3 25915 HP:0001272 Cerebellar atrophy OMIM:252010 NDUFAF3 25915 HP:0003812 Phenotypic variability OMIM:252010 NDUFAF3 25915 HP:0001263 Global developmental delay OMIM:252010 NDUFAF3 25915 HP:0000407 Sensorineural hearing impairment OMIM:252010 NDUFAF3 25915 HP:0001265 Hyporeflexia OMIM:252010 NDUFAF3 25915 HP:0001427 Mitochondrial inheritance OMIM:252010 NDUFAF3 25915 HP:0003546 Exercise intolerance OMIM:252010 NDUFAF3 25915 HP:0002415 Leukodystrophy OMIM:252010 NDUFAF3 25915 HP:0002376 Developmental regression OMIM:252010 NDUFAF3 25915 HP:0004481 Progressive macrocephaly OMIM:252010 NDUFAF3 25915 HP:0001399 Hepatic failure OMIM:252010 NDUFAF3 25915 HP:0001251 Ataxia OMIM:252010 NDUFAF3 25915 HP:0008872 Feeding difficulties in infancy OMIM:252010 NDUFAF3 25915 HP:0001257 Spasticity OMIM:252010 NDUFAF3 25915 HP:0001324 Muscle weakness OMIM:252010 NDUFAF3 25915 HP:0008316 Abnormal mitochondria in muscle tissue OMIM:252010 NDUFAF3 25915 HP:0001259 Coma OMIM:252010 NDUFAF3 25915 HP:0001508 Failure to thrive OMIM:252010 NDUFAF3 25915 HP:0001347 Hyperreflexia OMIM:252010 NDUFAF3 25915 HP:0001943 Hypoglycemia OMIM:252010 NDUFAF3 25915 HP:0002181 Cerebral edema OMIM:252010 NDUFAF3 25915 HP:0001250 Seizures OMIM:252010 NDUFAF3 25915 HP:0001510 Growth delay OMIM:252010 NDUFAF3 25915 HP:0003487 Babinski sign OMIM:252010 NDUFAF3 25915 HP:0001639 Hypertrophic cardiomyopathy OMIM:252010 NDUFAF3 25915 HP:0002490 Increased CSF lactate OMIM:252010 NDUFAF3 25915 HP:0000543 Optic disc pallor OMIM:252010 NDUFAF3 25915 HP:0001423 X-linked dominant inheritance OMIM:252010 NDUFAF1 51103 HP:0002878 Respiratory failure OMIM:252010 NDUFAF1 51103 HP:0000618 Blindness OMIM:252010 NDUFAF1 51103 HP:0001254 Lethargy OMIM:252010 NDUFAF1 51103 HP:0000639 Nystagmus OMIM:252010 NDUFAF1 51103 HP:0000486 Strabismus OMIM:252010 NDUFAF1 51103 HP:0003202 Skeletal muscle atrophy OMIM:252010 NDUFAF1 51103 HP:0002013 Vomiting OMIM:252010 NDUFAF1 51103 HP:0003128 Lactic acidosis OMIM:252010 NDUFAF1 51103 HP:0000508 Ptosis OMIM:252010 NDUFAF1 51103 HP:0006965 Acute necrotizing encephalopathy OMIM:252010 NDUFAF1 51103 HP:0001252 Muscular hypotonia OMIM:252010 NDUFAF1 51103 HP:0000007 Autosomal recessive inheritance OMIM:252010 NDUFAF1 51103 HP:0001272 Cerebellar atrophy OMIM:252010 NDUFAF1 51103 HP:0003812 Phenotypic variability OMIM:252010 NDUFAF1 51103 HP:0001263 Global developmental delay OMIM:252010 NDUFAF1 51103 HP:0000407 Sensorineural hearing impairment OMIM:252010 NDUFAF1 51103 HP:0001265 Hyporeflexia OMIM:252010 NDUFAF1 51103 HP:0001427 Mitochondrial inheritance OMIM:252010 NDUFAF1 51103 HP:0003546 Exercise intolerance OMIM:252010 NDUFAF1 51103 HP:0002415 Leukodystrophy OMIM:252010 NDUFAF1 51103 HP:0002376 Developmental regression OMIM:252010 NDUFAF1 51103 HP:0004481 Progressive macrocephaly OMIM:252010 NDUFAF1 51103 HP:0001399 Hepatic failure OMIM:252010 NDUFAF1 51103 HP:0001251 Ataxia OMIM:252010 NDUFAF1 51103 HP:0008872 Feeding difficulties in infancy OMIM:252010 NDUFAF1 51103 HP:0001257 Spasticity OMIM:252010 NDUFAF1 51103 HP:0001324 Muscle weakness OMIM:252010 NDUFAF1 51103 HP:0008316 Abnormal mitochondria in muscle tissue OMIM:252010 NDUFAF1 51103 HP:0001259 Coma OMIM:252010 NDUFAF1 51103 HP:0001508 Failure to thrive OMIM:252010 NDUFAF1 51103 HP:0001347 Hyperreflexia OMIM:252010 NDUFAF1 51103 HP:0001943 Hypoglycemia OMIM:252010 NDUFAF1 51103 HP:0002181 Cerebral edema OMIM:252010 NDUFAF1 51103 HP:0001250 Seizures OMIM:252010 NDUFAF1 51103 HP:0001510 Growth delay OMIM:252010 NDUFAF1 51103 HP:0003487 Babinski sign OMIM:252010 NDUFAF1 51103 HP:0001639 Hypertrophic cardiomyopathy OMIM:252010 NDUFAF1 51103 HP:0002490 Increased CSF lactate OMIM:252010 NDUFAF1 51103 HP:0000543 Optic disc pallor OMIM:252010 NDUFAF1 51103 HP:0001423 X-linked dominant inheritance OMIM:252010 NDUFB3 4709 HP:0002878 Respiratory failure OMIM:252010 NDUFB3 4709 HP:0000618 Blindness OMIM:252010 NDUFB3 4709 HP:0001254 Lethargy OMIM:252010 NDUFB3 4709 HP:0000639 Nystagmus OMIM:252010 NDUFB3 4709 HP:0000486 Strabismus OMIM:252010 NDUFB3 4709 HP:0003202 Skeletal muscle atrophy OMIM:252010 NDUFB3 4709 HP:0002013 Vomiting OMIM:252010 NDUFB3 4709 HP:0003128 Lactic acidosis OMIM:252010 NDUFB3 4709 HP:0000508 Ptosis OMIM:252010 NDUFB3 4709 HP:0006965 Acute necrotizing encephalopathy OMIM:252010 NDUFB3 4709 HP:0001252 Muscular hypotonia OMIM:252010 NDUFB3 4709 HP:0000007 Autosomal recessive inheritance OMIM:252010 NDUFB3 4709 HP:0001272 Cerebellar atrophy OMIM:252010 NDUFB3 4709 HP:0003812 Phenotypic variability OMIM:252010 NDUFB3 4709 HP:0001263 Global developmental delay OMIM:252010 NDUFB3 4709 HP:0000407 Sensorineural hearing impairment OMIM:252010 NDUFB3 4709 HP:0001265 Hyporeflexia OMIM:252010 NDUFB3 4709 HP:0001427 Mitochondrial inheritance OMIM:252010 NDUFB3 4709 HP:0003546 Exercise intolerance OMIM:252010 NDUFB3 4709 HP:0002415 Leukodystrophy OMIM:252010 NDUFB3 4709 HP:0002376 Developmental regression OMIM:252010 NDUFB3 4709 HP:0004481 Progressive macrocephaly OMIM:252010 NDUFB3 4709 HP:0001399 Hepatic failure OMIM:252010 NDUFB3 4709 HP:0001251 Ataxia OMIM:252010 NDUFB3 4709 HP:0008872 Feeding difficulties in infancy OMIM:252010 NDUFB3 4709 HP:0001257 Spasticity OMIM:252010 NDUFB3 4709 HP:0001324 Muscle weakness OMIM:252010 NDUFB3 4709 HP:0008316 Abnormal mitochondria in muscle tissue OMIM:252010 NDUFB3 4709 HP:0001259 Coma OMIM:252010 NDUFB3 4709 HP:0001508 Failure to thrive OMIM:252010 NDUFB3 4709 HP:0001347 Hyperreflexia OMIM:252010 NDUFB3 4709 HP:0001943 Hypoglycemia OMIM:252010 NDUFB3 4709 HP:0002181 Cerebral edema OMIM:252010 NDUFB3 4709 HP:0001250 Seizures OMIM:252010 NDUFB3 4709 HP:0001510 Growth delay OMIM:252010 NDUFB3 4709 HP:0003487 Babinski sign OMIM:252010 NDUFB3 4709 HP:0001639 Hypertrophic cardiomyopathy OMIM:252010 NDUFB3 4709 HP:0002490 Increased CSF lactate OMIM:252010 NDUFB3 4709 HP:0000543 Optic disc pallor OMIM:252010 NDUFB3 4709 HP:0001423 X-linked dominant inheritance OMIM:252010 NDUFB9 4715 HP:0002878 Respiratory failure OMIM:252010 NDUFB9 4715 HP:0000618 Blindness OMIM:252010 NDUFB9 4715 HP:0001254 Lethargy OMIM:252010 NDUFB9 4715 HP:0000639 Nystagmus OMIM:252010 NDUFB9 4715 HP:0000486 Strabismus OMIM:252010 NDUFB9 4715 HP:0003202 Skeletal muscle atrophy OMIM:252010 NDUFB9 4715 HP:0002013 Vomiting OMIM:252010 NDUFB9 4715 HP:0003128 Lactic acidosis OMIM:252010 NDUFB9 4715 HP:0000508 Ptosis OMIM:252010 NDUFB9 4715 HP:0006965 Acute necrotizing encephalopathy OMIM:252010 NDUFB9 4715 HP:0001252 Muscular hypotonia OMIM:252010 NDUFB9 4715 HP:0000007 Autosomal recessive inheritance OMIM:252010 NDUFB9 4715 HP:0001272 Cerebellar atrophy OMIM:252010 NDUFB9 4715 HP:0003812 Phenotypic variability OMIM:252010 NDUFB9 4715 HP:0001263 Global developmental delay OMIM:252010 NDUFB9 4715 HP:0000407 Sensorineural hearing impairment OMIM:252010 NDUFB9 4715 HP:0001265 Hyporeflexia OMIM:252010 NDUFB9 4715 HP:0001427 Mitochondrial inheritance OMIM:252010 NDUFB9 4715 HP:0003546 Exercise intolerance OMIM:252010 NDUFB9 4715 HP:0002415 Leukodystrophy OMIM:252010 NDUFB9 4715 HP:0002376 Developmental regression OMIM:252010 NDUFB9 4715 HP:0004481 Progressive macrocephaly OMIM:252010 NDUFB9 4715 HP:0001399 Hepatic failure OMIM:252010 NDUFB9 4715 HP:0001251 Ataxia OMIM:252010 NDUFB9 4715 HP:0008872 Feeding difficulties in infancy OMIM:252010 NDUFB9 4715 HP:0001257 Spasticity OMIM:252010 NDUFB9 4715 HP:0001324 Muscle weakness OMIM:252010 NDUFB9 4715 HP:0008316 Abnormal mitochondria in muscle tissue OMIM:252010 NDUFB9 4715 HP:0001259 Coma OMIM:252010 NDUFB9 4715 HP:0001508 Failure to thrive OMIM:252010 NDUFB9 4715 HP:0001347 Hyperreflexia OMIM:252010 NDUFB9 4715 HP:0001943 Hypoglycemia OMIM:252010 NDUFB9 4715 HP:0002181 Cerebral edema OMIM:252010 NDUFB9 4715 HP:0001250 Seizures OMIM:252010 NDUFB9 4715 HP:0001510 Growth delay OMIM:252010 NDUFB9 4715 HP:0003487 Babinski sign OMIM:252010 NDUFB9 4715 HP:0001639 Hypertrophic cardiomyopathy OMIM:252010 NDUFB9 4715 HP:0002490 Increased CSF lactate OMIM:252010 NDUFB9 4715 HP:0000543 Optic disc pallor OMIM:252010 NDUFB9 4715 HP:0001423 X-linked dominant inheritance OMIM:252010 NDUFA11 126328 HP:0002878 Respiratory failure OMIM:252010 NDUFA11 126328 HP:0000618 Blindness OMIM:252010 NDUFA11 126328 HP:0001254 Lethargy OMIM:252010 NDUFA11 126328 HP:0000639 Nystagmus OMIM:252010 NDUFA11 126328 HP:0000486 Strabismus OMIM:252010 NDUFA11 126328 HP:0003202 Skeletal muscle atrophy OMIM:252010 NDUFA11 126328 HP:0002013 Vomiting OMIM:252010 NDUFA11 126328 HP:0003128 Lactic acidosis OMIM:252010 NDUFA11 126328 HP:0000508 Ptosis OMIM:252010 NDUFA11 126328 HP:0006965 Acute necrotizing encephalopathy OMIM:252010 NDUFA11 126328 HP:0001252 Muscular hypotonia OMIM:252010 NDUFA11 126328 HP:0000007 Autosomal recessive inheritance OMIM:252010 NDUFA11 126328 HP:0001272 Cerebellar atrophy OMIM:252010 NDUFA11 126328 HP:0003812 Phenotypic variability OMIM:252010 NDUFA11 126328 HP:0001263 Global developmental delay OMIM:252010 NDUFA11 126328 HP:0000407 Sensorineural hearing impairment OMIM:252010 NDUFA11 126328 HP:0001265 Hyporeflexia OMIM:252010 NDUFA11 126328 HP:0001427 Mitochondrial inheritance OMIM:252010 NDUFA11 126328 HP:0003546 Exercise intolerance OMIM:252010 NDUFA11 126328 HP:0002415 Leukodystrophy OMIM:252010 NDUFA11 126328 HP:0002376 Developmental regression OMIM:252010 NDUFA11 126328 HP:0004481 Progressive macrocephaly OMIM:252010 NDUFA11 126328 HP:0001399 Hepatic failure OMIM:252010 NDUFA11 126328 HP:0001251 Ataxia OMIM:252010 NDUFA11 126328 HP:0008872 Feeding difficulties in infancy OMIM:252010 NDUFA11 126328 HP:0001257 Spasticity OMIM:252010 NDUFA11 126328 HP:0001324 Muscle weakness OMIM:252010 NDUFA11 126328 HP:0008316 Abnormal mitochondria in muscle tissue OMIM:252010 NDUFA11 126328 HP:0001259 Coma OMIM:252010 NDUFA11 126328 HP:0001508 Failure to thrive OMIM:252010 NDUFA11 126328 HP:0001347 Hyperreflexia OMIM:252010 NDUFA11 126328 HP:0001943 Hypoglycemia OMIM:252010 NDUFA11 126328 HP:0002181 Cerebral edema OMIM:252010 NDUFA11 126328 HP:0001250 Seizures OMIM:252010 NDUFA11 126328 HP:0001510 Growth delay OMIM:252010 NDUFA11 126328 HP:0003487 Babinski sign OMIM:252010 NDUFA11 126328 HP:0001639 Hypertrophic cardiomyopathy OMIM:252010 NDUFA11 126328 HP:0002490 Increased CSF lactate OMIM:252010 NDUFA11 126328 HP:0000543 Optic disc pallor OMIM:252010 NDUFA11 126328 HP:0001423 X-linked dominant inheritance OMIM:252010 NDUFAF4 29078 HP:0002878 Respiratory failure OMIM:252010 NDUFAF4 29078 HP:0000618 Blindness OMIM:252010 NDUFAF4 29078 HP:0001254 Lethargy OMIM:252010 NDUFAF4 29078 HP:0000639 Nystagmus OMIM:252010 NDUFAF4 29078 HP:0000486 Strabismus OMIM:252010 NDUFAF4 29078 HP:0003202 Skeletal muscle atrophy OMIM:252010 NDUFAF4 29078 HP:0002013 Vomiting OMIM:252010 NDUFAF4 29078 HP:0003128 Lactic acidosis OMIM:252010 NDUFAF4 29078 HP:0000508 Ptosis OMIM:252010 NDUFAF4 29078 HP:0006965 Acute necrotizing encephalopathy OMIM:252010 NDUFAF4 29078 HP:0001252 Muscular hypotonia OMIM:252010 NDUFAF4 29078 HP:0000007 Autosomal recessive inheritance OMIM:252010 NDUFAF4 29078 HP:0001272 Cerebellar atrophy OMIM:252010 NDUFAF4 29078 HP:0003812 Phenotypic variability OMIM:252010 NDUFAF4 29078 HP:0001263 Global developmental delay OMIM:252010 NDUFAF4 29078 HP:0000407 Sensorineural hearing impairment OMIM:252010 NDUFAF4 29078 HP:0001265 Hyporeflexia OMIM:252010 NDUFAF4 29078 HP:0001427 Mitochondrial inheritance OMIM:252010 NDUFAF4 29078 HP:0003546 Exercise intolerance OMIM:252010 NDUFAF4 29078 HP:0002415 Leukodystrophy OMIM:252010 NDUFAF4 29078 HP:0002376 Developmental regression OMIM:252010 NDUFAF4 29078 HP:0004481 Progressive macrocephaly OMIM:252010 NDUFAF4 29078 HP:0001399 Hepatic failure OMIM:252010 NDUFAF4 29078 HP:0001251 Ataxia OMIM:252010 NDUFAF4 29078 HP:0008872 Feeding difficulties in infancy OMIM:252010 NDUFAF4 29078 HP:0001257 Spasticity OMIM:252010 NDUFAF4 29078 HP:0001324 Muscle weakness OMIM:252010 NDUFAF4 29078 HP:0008316 Abnormal mitochondria in muscle tissue OMIM:252010 NDUFAF4 29078 HP:0001259 Coma OMIM:252010 NDUFAF4 29078 HP:0001508 Failure to thrive OMIM:252010 NDUFAF4 29078 HP:0001347 Hyperreflexia OMIM:252010 NDUFAF4 29078 HP:0001943 Hypoglycemia OMIM:252010 NDUFAF4 29078 HP:0002181 Cerebral edema OMIM:252010 NDUFAF4 29078 HP:0001250 Seizures OMIM:252010 NDUFAF4 29078 HP:0001510 Growth delay OMIM:252010 NDUFAF4 29078 HP:0003487 Babinski sign OMIM:252010 NDUFAF4 29078 HP:0001639 Hypertrophic cardiomyopathy OMIM:252010 NDUFAF4 29078 HP:0002490 Increased CSF lactate OMIM:252010 NDUFAF4 29078 HP:0000543 Optic disc pallor OMIM:252010 NDUFAF4 29078 HP:0001423 X-linked dominant inheritance OMIM:252010 NDUFS1 4719 HP:0002878 Respiratory failure OMIM:252010 NDUFS1 4719 HP:0000618 Blindness OMIM:252010 NDUFS1 4719 HP:0001254 Lethargy OMIM:252010 NDUFS1 4719 HP:0000639 Nystagmus OMIM:252010 NDUFS1 4719 HP:0000486 Strabismus OMIM:252010 NDUFS1 4719 HP:0003202 Skeletal muscle atrophy OMIM:252010 NDUFS1 4719 HP:0002013 Vomiting OMIM:252010 NDUFS1 4719 HP:0003128 Lactic acidosis OMIM:252010 NDUFS1 4719 HP:0000508 Ptosis OMIM:252010 NDUFS1 4719 HP:0006965 Acute necrotizing encephalopathy OMIM:252010 NDUFS1 4719 HP:0001252 Muscular hypotonia OMIM:252010 NDUFS1 4719 HP:0000007 Autosomal recessive inheritance OMIM:252010 NDUFS1 4719 HP:0001272 Cerebellar atrophy OMIM:252010 NDUFS1 4719 HP:0003812 Phenotypic variability OMIM:252010 NDUFS1 4719 HP:0001263 Global developmental delay OMIM:252010 NDUFS1 4719 HP:0000407 Sensorineural hearing impairment OMIM:252010 NDUFS1 4719 HP:0001265 Hyporeflexia OMIM:252010 NDUFS1 4719 HP:0001427 Mitochondrial inheritance OMIM:252010 NDUFS1 4719 HP:0003546 Exercise intolerance OMIM:252010 NDUFS1 4719 HP:0002415 Leukodystrophy OMIM:252010 NDUFS1 4719 HP:0002376 Developmental regression OMIM:252010 NDUFS1 4719 HP:0004481 Progressive macrocephaly OMIM:252010 NDUFS1 4719 HP:0001399 Hepatic failure OMIM:252010 NDUFS1 4719 HP:0001251 Ataxia OMIM:252010 NDUFS1 4719 HP:0008872 Feeding difficulties in infancy OMIM:252010 NDUFS1 4719 HP:0001257 Spasticity OMIM:252010 NDUFS1 4719 HP:0001324 Muscle weakness OMIM:252010 NDUFS1 4719 HP:0008316 Abnormal mitochondria in muscle tissue OMIM:252010 NDUFS1 4719 HP:0001259 Coma OMIM:252010 NDUFS1 4719 HP:0001508 Failure to thrive OMIM:252010 NDUFS1 4719 HP:0001347 Hyperreflexia OMIM:252010 NDUFS1 4719 HP:0001943 Hypoglycemia OMIM:252010 NDUFS1 4719 HP:0002181 Cerebral edema OMIM:252010 NDUFS1 4719 HP:0001250 Seizures OMIM:252010 NDUFS1 4719 HP:0001510 Growth delay OMIM:252010 NDUFS1 4719 HP:0003487 Babinski sign OMIM:252010 NDUFS1 4719 HP:0001639 Hypertrophic cardiomyopathy OMIM:252010 NDUFS1 4719 HP:0002490 Increased CSF lactate OMIM:252010 NDUFS1 4719 HP:0000543 Optic disc pallor OMIM:252010 NDUFS1 4719 HP:0001423 X-linked dominant inheritance OMIM:252010 NDUFAF2 91942 HP:0002878 Respiratory failure OMIM:252010 NDUFAF2 91942 HP:0000618 Blindness OMIM:252010 NDUFAF2 91942 HP:0001254 Lethargy OMIM:252010 NDUFAF2 91942 HP:0000639 Nystagmus OMIM:252010 NDUFAF2 91942 HP:0000486 Strabismus OMIM:252010 NDUFAF2 91942 HP:0003202 Skeletal muscle atrophy OMIM:252010 NDUFAF2 91942 HP:0002013 Vomiting OMIM:252010 NDUFAF2 91942 HP:0003128 Lactic acidosis OMIM:252010 NDUFAF2 91942 HP:0000508 Ptosis OMIM:252010 NDUFAF2 91942 HP:0006965 Acute necrotizing encephalopathy OMIM:252010 NDUFAF2 91942 HP:0001252 Muscular hypotonia OMIM:252010 NDUFAF2 91942 HP:0000007 Autosomal recessive inheritance OMIM:252010 NDUFAF2 91942 HP:0001272 Cerebellar atrophy OMIM:252010 NDUFAF2 91942 HP:0003812 Phenotypic variability OMIM:252010 NDUFAF2 91942 HP:0001263 Global developmental delay OMIM:252010 NDUFAF2 91942 HP:0000407 Sensorineural hearing impairment OMIM:252010 NDUFAF2 91942 HP:0001265 Hyporeflexia OMIM:252010 NDUFAF2 91942 HP:0001427 Mitochondrial inheritance OMIM:252010 NDUFAF2 91942 HP:0003546 Exercise intolerance OMIM:252010 NDUFAF2 91942 HP:0002415 Leukodystrophy OMIM:252010 NDUFAF2 91942 HP:0002376 Developmental regression OMIM:252010 NDUFAF2 91942 HP:0004481 Progressive macrocephaly OMIM:252010 NDUFAF2 91942 HP:0001399 Hepatic failure OMIM:252010 NDUFAF2 91942 HP:0001251 Ataxia OMIM:252010 NDUFAF2 91942 HP:0008872 Feeding difficulties in infancy OMIM:252010 NDUFAF2 91942 HP:0001257 Spasticity OMIM:252010 NDUFAF2 91942 HP:0001324 Muscle weakness OMIM:252010 NDUFAF2 91942 HP:0008316 Abnormal mitochondria in muscle tissue OMIM:252010 NDUFAF2 91942 HP:0001259 Coma OMIM:252010 NDUFAF2 91942 HP:0001508 Failure to thrive OMIM:252010 NDUFAF2 91942 HP:0001347 Hyperreflexia OMIM:252010 NDUFAF2 91942 HP:0001943 Hypoglycemia OMIM:252010 NDUFAF2 91942 HP:0002181 Cerebral edema OMIM:252010 NDUFAF2 91942 HP:0001250 Seizures OMIM:252010 NDUFAF2 91942 HP:0001510 Growth delay OMIM:252010 NDUFAF2 91942 HP:0003487 Babinski sign OMIM:252010 NDUFAF2 91942 HP:0001639 Hypertrophic cardiomyopathy OMIM:252010 NDUFAF2 91942 HP:0002490 Increased CSF lactate OMIM:252010 NDUFAF2 91942 HP:0000543 Optic disc pallor OMIM:252010 NDUFAF2 91942 HP:0001423 X-linked dominant inheritance OMIM:252010 NDUFS3 4722 HP:0002878 Respiratory failure OMIM:252010 NDUFS3 4722 HP:0000618 Blindness OMIM:252010 NDUFS3 4722 HP:0001254 Lethargy OMIM:252010 NDUFS3 4722 HP:0000639 Nystagmus OMIM:252010 NDUFS3 4722 HP:0000486 Strabismus OMIM:252010 NDUFS3 4722 HP:0003202 Skeletal muscle atrophy OMIM:252010 NDUFS3 4722 HP:0002013 Vomiting OMIM:252010 NDUFS3 4722 HP:0003128 Lactic acidosis OMIM:252010 NDUFS3 4722 HP:0000508 Ptosis OMIM:252010 NDUFS3 4722 HP:0006965 Acute necrotizing encephalopathy OMIM:252010 NDUFS3 4722 HP:0001252 Muscular hypotonia OMIM:252010 NDUFS3 4722 HP:0000007 Autosomal recessive inheritance OMIM:252010 NDUFS3 4722 HP:0001272 Cerebellar atrophy OMIM:252010 NDUFS3 4722 HP:0003812 Phenotypic variability OMIM:252010 NDUFS3 4722 HP:0001263 Global developmental delay OMIM:252010 NDUFS3 4722 HP:0000407 Sensorineural hearing impairment OMIM:252010 NDUFS3 4722 HP:0001265 Hyporeflexia OMIM:252010 NDUFS3 4722 HP:0001427 Mitochondrial inheritance OMIM:252010 NDUFS3 4722 HP:0003546 Exercise intolerance OMIM:252010 NDUFS3 4722 HP:0002415 Leukodystrophy OMIM:252010 NDUFS3 4722 HP:0002376 Developmental regression OMIM:252010 NDUFS3 4722 HP:0004481 Progressive macrocephaly OMIM:252010 NDUFS3 4722 HP:0001399 Hepatic failure OMIM:252010 NDUFS3 4722 HP:0001251 Ataxia OMIM:252010 NDUFS3 4722 HP:0008872 Feeding difficulties in infancy OMIM:252010 NDUFS3 4722 HP:0001257 Spasticity OMIM:252010 NDUFS3 4722 HP:0001324 Muscle weakness OMIM:252010 NDUFS3 4722 HP:0008316 Abnormal mitochondria in muscle tissue OMIM:252010 NDUFS3 4722 HP:0001259 Coma OMIM:252010 NDUFS3 4722 HP:0001508 Failure to thrive OMIM:252010 NDUFS3 4722 HP:0001347 Hyperreflexia OMIM:252010 NDUFS3 4722 HP:0001943 Hypoglycemia OMIM:252010 NDUFS3 4722 HP:0002181 Cerebral edema OMIM:252010 NDUFS3 4722 HP:0001250 Seizures OMIM:252010 NDUFS3 4722 HP:0001510 Growth delay OMIM:252010 NDUFS3 4722 HP:0003487 Babinski sign OMIM:252010 NDUFS3 4722 HP:0001639 Hypertrophic cardiomyopathy OMIM:252010 NDUFS3 4722 HP:0002490 Increased CSF lactate OMIM:252010 NDUFS3 4722 HP:0000543 Optic disc pallor OMIM:252010 NDUFS3 4722 HP:0001423 X-linked dominant inheritance OMIM:252010 NDUFV1 4723 HP:0002878 Respiratory failure OMIM:252010 NDUFV1 4723 HP:0000618 Blindness OMIM:252010 NDUFV1 4723 HP:0001254 Lethargy OMIM:252010 NDUFV1 4723 HP:0000639 Nystagmus OMIM:252010 NDUFV1 4723 HP:0000486 Strabismus OMIM:252010 NDUFV1 4723 HP:0003202 Skeletal muscle atrophy OMIM:252010 NDUFV1 4723 HP:0002013 Vomiting OMIM:252010 NDUFV1 4723 HP:0003128 Lactic acidosis OMIM:252010 NDUFV1 4723 HP:0000508 Ptosis OMIM:252010 NDUFV1 4723 HP:0006965 Acute necrotizing encephalopathy OMIM:252010 NDUFV1 4723 HP:0001252 Muscular hypotonia OMIM:252010 NDUFV1 4723 HP:0000007 Autosomal recessive inheritance OMIM:252010 NDUFV1 4723 HP:0001272 Cerebellar atrophy OMIM:252010 NDUFV1 4723 HP:0003812 Phenotypic variability OMIM:252010 NDUFV1 4723 HP:0001263 Global developmental delay OMIM:252010 NDUFV1 4723 HP:0000407 Sensorineural hearing impairment OMIM:252010 NDUFV1 4723 HP:0001265 Hyporeflexia OMIM:252010 NDUFV1 4723 HP:0001427 Mitochondrial inheritance OMIM:252010 NDUFV1 4723 HP:0003546 Exercise intolerance OMIM:252010 NDUFV1 4723 HP:0002415 Leukodystrophy OMIM:252010 NDUFV1 4723 HP:0002376 Developmental regression OMIM:252010 NDUFV1 4723 HP:0004481 Progressive macrocephaly OMIM:252010 NDUFV1 4723 HP:0001399 Hepatic failure OMIM:252010 NDUFV1 4723 HP:0001251 Ataxia OMIM:252010 NDUFV1 4723 HP:0008872 Feeding difficulties in infancy OMIM:252010 NDUFV1 4723 HP:0001257 Spasticity OMIM:252010 NDUFV1 4723 HP:0001324 Muscle weakness OMIM:252010 NDUFV1 4723 HP:0008316 Abnormal mitochondria in muscle tissue OMIM:252010 NDUFV1 4723 HP:0001259 Coma OMIM:252010 NDUFV1 4723 HP:0001508 Failure to thrive OMIM:252010 NDUFV1 4723 HP:0001347 Hyperreflexia OMIM:252010 NDUFV1 4723 HP:0001943 Hypoglycemia OMIM:252010 NDUFV1 4723 HP:0002181 Cerebral edema OMIM:252010 NDUFV1 4723 HP:0001250 Seizures OMIM:252010 NDUFV1 4723 HP:0001510 Growth delay OMIM:252010 NDUFV1 4723 HP:0003487 Babinski sign OMIM:252010 NDUFV1 4723 HP:0001639 Hypertrophic cardiomyopathy OMIM:252010 NDUFV1 4723 HP:0002490 Increased CSF lactate OMIM:252010 NDUFV1 4723 HP:0000543 Optic disc pallor OMIM:252010 NDUFV1 4723 HP:0001423 X-linked dominant inheritance OMIM:252010 NDUFS2 4720 HP:0002878 Respiratory failure OMIM:252010 NDUFS2 4720 HP:0000618 Blindness OMIM:252010 NDUFS2 4720 HP:0001254 Lethargy OMIM:252010 NDUFS2 4720 HP:0000639 Nystagmus OMIM:252010 NDUFS2 4720 HP:0000486 Strabismus OMIM:252010 NDUFS2 4720 HP:0003202 Skeletal muscle atrophy OMIM:252010 NDUFS2 4720 HP:0002013 Vomiting OMIM:252010 NDUFS2 4720 HP:0003128 Lactic acidosis OMIM:252010 NDUFS2 4720 HP:0000508 Ptosis OMIM:252010 NDUFS2 4720 HP:0006965 Acute necrotizing encephalopathy OMIM:252010 NDUFS2 4720 HP:0001252 Muscular hypotonia OMIM:252010 NDUFS2 4720 HP:0000007 Autosomal recessive inheritance OMIM:252010 NDUFS2 4720 HP:0001272 Cerebellar atrophy OMIM:252010 NDUFS2 4720 HP:0003812 Phenotypic variability OMIM:252010 NDUFS2 4720 HP:0001263 Global developmental delay OMIM:252010 NDUFS2 4720 HP:0000407 Sensorineural hearing impairment OMIM:252010 NDUFS2 4720 HP:0001265 Hyporeflexia OMIM:252010 NDUFS2 4720 HP:0001427 Mitochondrial inheritance OMIM:252010 NDUFS2 4720 HP:0003546 Exercise intolerance OMIM:252010 NDUFS2 4720 HP:0002415 Leukodystrophy OMIM:252010 NDUFS2 4720 HP:0002376 Developmental regression OMIM:252010 NDUFS2 4720 HP:0004481 Progressive macrocephaly OMIM:252010 NDUFS2 4720 HP:0001399 Hepatic failure OMIM:252010 NDUFS2 4720 HP:0001251 Ataxia OMIM:252010 NDUFS2 4720 HP:0008872 Feeding difficulties in infancy OMIM:252010 NDUFS2 4720 HP:0001257 Spasticity OMIM:252010 NDUFS2 4720 HP:0001324 Muscle weakness OMIM:252010 NDUFS2 4720 HP:0008316 Abnormal mitochondria in muscle tissue OMIM:252010 NDUFS2 4720 HP:0001259 Coma OMIM:252010 NDUFS2 4720 HP:0001508 Failure to thrive OMIM:252010 NDUFS2 4720 HP:0001347 Hyperreflexia OMIM:252010 NDUFS2 4720 HP:0001943 Hypoglycemia OMIM:252010 NDUFS2 4720 HP:0002181 Cerebral edema OMIM:252010 NDUFS2 4720 HP:0001250 Seizures OMIM:252010 NDUFS2 4720 HP:0001510 Growth delay OMIM:252010 NDUFS2 4720 HP:0003487 Babinski sign OMIM:252010 NDUFS2 4720 HP:0001639 Hypertrophic cardiomyopathy OMIM:252010 NDUFS2 4720 HP:0002490 Increased CSF lactate OMIM:252010 NDUFS2 4720 HP:0000543 Optic disc pallor OMIM:252010 NDUFS2 4720 HP:0001423 X-linked dominant inheritance OMIM:252010 NDUFAF5 79133 HP:0002878 Respiratory failure OMIM:252010 NDUFAF5 79133 HP:0000618 Blindness OMIM:252010 NDUFAF5 79133 HP:0001254 Lethargy OMIM:252010 NDUFAF5 79133 HP:0000639 Nystagmus OMIM:252010 NDUFAF5 79133 HP:0000486 Strabismus OMIM:252010 NDUFAF5 79133 HP:0003202 Skeletal muscle atrophy OMIM:252010 NDUFAF5 79133 HP:0002013 Vomiting OMIM:252010 NDUFAF5 79133 HP:0003128 Lactic acidosis OMIM:252010 NDUFAF5 79133 HP:0000508 Ptosis OMIM:252010 NDUFAF5 79133 HP:0006965 Acute necrotizing encephalopathy OMIM:252010 NDUFAF5 79133 HP:0001252 Muscular hypotonia OMIM:252010 NDUFAF5 79133 HP:0000007 Autosomal recessive inheritance OMIM:252010 NDUFAF5 79133 HP:0001272 Cerebellar atrophy OMIM:252010 NDUFAF5 79133 HP:0003812 Phenotypic variability OMIM:252010 NDUFAF5 79133 HP:0001263 Global developmental delay OMIM:252010 NDUFAF5 79133 HP:0000407 Sensorineural hearing impairment OMIM:252010 NDUFAF5 79133 HP:0001265 Hyporeflexia OMIM:252010 NDUFAF5 79133 HP:0001427 Mitochondrial inheritance OMIM:252010 NDUFAF5 79133 HP:0003546 Exercise intolerance OMIM:252010 NDUFAF5 79133 HP:0002415 Leukodystrophy OMIM:252010 NDUFAF5 79133 HP:0002376 Developmental regression OMIM:252010 NDUFAF5 79133 HP:0004481 Progressive macrocephaly OMIM:252010 NDUFAF5 79133 HP:0001399 Hepatic failure OMIM:252010 NDUFAF5 79133 HP:0001251 Ataxia OMIM:252010 NDUFAF5 79133 HP:0008872 Feeding difficulties in infancy OMIM:252010 NDUFAF5 79133 HP:0001257 Spasticity OMIM:252010 NDUFAF5 79133 HP:0001324 Muscle weakness OMIM:252010 NDUFAF5 79133 HP:0008316 Abnormal mitochondria in muscle tissue OMIM:252010 NDUFAF5 79133 HP:0001259 Coma OMIM:252010 NDUFAF5 79133 HP:0001508 Failure to thrive OMIM:252010 NDUFAF5 79133 HP:0001347 Hyperreflexia OMIM:252010 NDUFAF5 79133 HP:0001943 Hypoglycemia OMIM:252010 NDUFAF5 79133 HP:0002181 Cerebral edema OMIM:252010 NDUFAF5 79133 HP:0001250 Seizures OMIM:252010 NDUFAF5 79133 HP:0001510 Growth delay OMIM:252010 NDUFAF5 79133 HP:0003487 Babinski sign OMIM:252010 NDUFAF5 79133 HP:0001639 Hypertrophic cardiomyopathy OMIM:252010 NDUFAF5 79133 HP:0002490 Increased CSF lactate OMIM:252010 NDUFAF5 79133 HP:0000543 Optic disc pallor OMIM:252010 NDUFAF5 79133 HP:0001423 X-linked dominant inheritance OMIM:252010 NDUFS6 4726 HP:0002878 Respiratory failure OMIM:252010 NDUFS6 4726 HP:0000618 Blindness OMIM:252010 NDUFS6 4726 HP:0001254 Lethargy OMIM:252010 NDUFS6 4726 HP:0000639 Nystagmus OMIM:252010 NDUFS6 4726 HP:0000486 Strabismus OMIM:252010 NDUFS6 4726 HP:0003202 Skeletal muscle atrophy OMIM:252010 NDUFS6 4726 HP:0002013 Vomiting OMIM:252010 NDUFS6 4726 HP:0003128 Lactic acidosis OMIM:252010 NDUFS6 4726 HP:0000508 Ptosis OMIM:252010 NDUFS6 4726 HP:0006965 Acute necrotizing encephalopathy OMIM:252010 NDUFS6 4726 HP:0001252 Muscular hypotonia OMIM:252010 NDUFS6 4726 HP:0000007 Autosomal recessive inheritance OMIM:252010 NDUFS6 4726 HP:0001272 Cerebellar atrophy OMIM:252010 NDUFS6 4726 HP:0003812 Phenotypic variability OMIM:252010 NDUFS6 4726 HP:0001263 Global developmental delay OMIM:252010 NDUFS6 4726 HP:0000407 Sensorineural hearing impairment OMIM:252010 NDUFS6 4726 HP:0001265 Hyporeflexia OMIM:252010 NDUFS6 4726 HP:0001427 Mitochondrial inheritance OMIM:252010 NDUFS6 4726 HP:0003546 Exercise intolerance OMIM:252010 NDUFS6 4726 HP:0002415 Leukodystrophy OMIM:252010 NDUFS6 4726 HP:0002376 Developmental regression OMIM:252010 NDUFS6 4726 HP:0004481 Progressive macrocephaly OMIM:252010 NDUFS6 4726 HP:0001399 Hepatic failure OMIM:252010 NDUFS6 4726 HP:0001251 Ataxia OMIM:252010 NDUFS6 4726 HP:0008872 Feeding difficulties in infancy OMIM:252010 NDUFS6 4726 HP:0001257 Spasticity OMIM:252010 NDUFS6 4726 HP:0001324 Muscle weakness OMIM:252010 NDUFS6 4726 HP:0008316 Abnormal mitochondria in muscle tissue OMIM:252010 NDUFS6 4726 HP:0001259 Coma OMIM:252010 NDUFS6 4726 HP:0001508 Failure to thrive OMIM:252010 NDUFS6 4726 HP:0001347 Hyperreflexia OMIM:252010 NDUFS6 4726 HP:0001943 Hypoglycemia OMIM:252010 NDUFS6 4726 HP:0002181 Cerebral edema OMIM:252010 NDUFS6 4726 HP:0001250 Seizures OMIM:252010 NDUFS6 4726 HP:0001510 Growth delay OMIM:252010 NDUFS6 4726 HP:0003487 Babinski sign OMIM:252010 NDUFS6 4726 HP:0001639 Hypertrophic cardiomyopathy OMIM:252010 NDUFS6 4726 HP:0002490 Increased CSF lactate OMIM:252010 NDUFS6 4726 HP:0000543 Optic disc pallor OMIM:252010 NDUFS6 4726 HP:0001423 X-linked dominant inheritance OMIM:252010 NDUFA1 4694 HP:0002878 Respiratory failure OMIM:252010 NDUFA1 4694 HP:0000618 Blindness OMIM:252010 NDUFA1 4694 HP:0001254 Lethargy OMIM:252010 NDUFA1 4694 HP:0000639 Nystagmus OMIM:252010 NDUFA1 4694 HP:0000486 Strabismus OMIM:252010 NDUFA1 4694 HP:0003202 Skeletal muscle atrophy OMIM:252010 NDUFA1 4694 HP:0002013 Vomiting OMIM:252010 NDUFA1 4694 HP:0003128 Lactic acidosis OMIM:252010 NDUFA1 4694 HP:0000508 Ptosis OMIM:252010 NDUFA1 4694 HP:0006965 Acute necrotizing encephalopathy OMIM:252010 NDUFA1 4694 HP:0001252 Muscular hypotonia OMIM:252010 NDUFA1 4694 HP:0000007 Autosomal recessive inheritance OMIM:252010 NDUFA1 4694 HP:0001272 Cerebellar atrophy OMIM:252010 NDUFA1 4694 HP:0003812 Phenotypic variability OMIM:252010 NDUFA1 4694 HP:0001263 Global developmental delay OMIM:252010 NDUFA1 4694 HP:0000407 Sensorineural hearing impairment OMIM:252010 NDUFA1 4694 HP:0001265 Hyporeflexia OMIM:252010 NDUFA1 4694 HP:0001427 Mitochondrial inheritance OMIM:252010 NDUFA1 4694 HP:0003546 Exercise intolerance OMIM:252010 NDUFA1 4694 HP:0002415 Leukodystrophy OMIM:252010 NDUFA1 4694 HP:0002376 Developmental regression OMIM:252010 NDUFA1 4694 HP:0004481 Progressive macrocephaly OMIM:252010 NDUFA1 4694 HP:0001399 Hepatic failure OMIM:252010 NDUFA1 4694 HP:0001251 Ataxia OMIM:252010 NDUFA1 4694 HP:0008872 Feeding difficulties in infancy OMIM:252010 NDUFA1 4694 HP:0001257 Spasticity OMIM:252010 NDUFA1 4694 HP:0001324 Muscle weakness OMIM:252010 NDUFA1 4694 HP:0008316 Abnormal mitochondria in muscle tissue OMIM:252010 NDUFA1 4694 HP:0001259 Coma OMIM:252010 NDUFA1 4694 HP:0001508 Failure to thrive OMIM:252010 NDUFA1 4694 HP:0001347 Hyperreflexia OMIM:252010 NDUFA1 4694 HP:0001943 Hypoglycemia OMIM:252010 NDUFA1 4694 HP:0002181 Cerebral edema OMIM:252010 NDUFA1 4694 HP:0001250 Seizures OMIM:252010 NDUFA1 4694 HP:0001510 Growth delay OMIM:252010 NDUFA1 4694 HP:0003487 Babinski sign OMIM:252010 NDUFA1 4694 HP:0001639 Hypertrophic cardiomyopathy OMIM:252010 NDUFA1 4694 HP:0002490 Increased CSF lactate OMIM:252010 NDUFA1 4694 HP:0000543 Optic disc pallor OMIM:252010 NDUFA1 4694 HP:0001423 X-linked dominant inheritance OMIM:252010 NUBPL 80224 HP:0002878 Respiratory failure OMIM:252010 NUBPL 80224 HP:0000618 Blindness OMIM:252010 NUBPL 80224 HP:0001254 Lethargy OMIM:252010 NUBPL 80224 HP:0000639 Nystagmus OMIM:252010 NUBPL 80224 HP:0000486 Strabismus OMIM:252010 NUBPL 80224 HP:0003202 Skeletal muscle atrophy OMIM:252010 NUBPL 80224 HP:0002013 Vomiting OMIM:252010 NUBPL 80224 HP:0003128 Lactic acidosis OMIM:252010 NUBPL 80224 HP:0000508 Ptosis OMIM:252010 NUBPL 80224 HP:0006965 Acute necrotizing encephalopathy OMIM:252010 NUBPL 80224 HP:0001252 Muscular hypotonia OMIM:252010 NUBPL 80224 HP:0000007 Autosomal recessive inheritance OMIM:252010 NUBPL 80224 HP:0001272 Cerebellar atrophy OMIM:252010 NUBPL 80224 HP:0003812 Phenotypic variability OMIM:252010 NUBPL 80224 HP:0001263 Global developmental delay OMIM:252010 NUBPL 80224 HP:0000407 Sensorineural hearing impairment OMIM:252010 NUBPL 80224 HP:0001265 Hyporeflexia OMIM:252010 NUBPL 80224 HP:0001427 Mitochondrial inheritance OMIM:252010 NUBPL 80224 HP:0003546 Exercise intolerance OMIM:252010 NUBPL 80224 HP:0002415 Leukodystrophy OMIM:252010 NUBPL 80224 HP:0002376 Developmental regression OMIM:252010 NUBPL 80224 HP:0004481 Progressive macrocephaly OMIM:252010 NUBPL 80224 HP:0001399 Hepatic failure OMIM:252010 NUBPL 80224 HP:0001251 Ataxia OMIM:252010 NUBPL 80224 HP:0008872 Feeding difficulties in infancy OMIM:252010 NUBPL 80224 HP:0001257 Spasticity OMIM:252010 NUBPL 80224 HP:0001324 Muscle weakness OMIM:252010 NUBPL 80224 HP:0008316 Abnormal mitochondria in muscle tissue OMIM:252010 NUBPL 80224 HP:0001259 Coma OMIM:252010 NUBPL 80224 HP:0001508 Failure to thrive OMIM:252010 NUBPL 80224 HP:0001347 Hyperreflexia OMIM:252010 NUBPL 80224 HP:0001943 Hypoglycemia OMIM:252010 NUBPL 80224 HP:0002181 Cerebral edema OMIM:252010 NUBPL 80224 HP:0001250 Seizures OMIM:252010 NUBPL 80224 HP:0001510 Growth delay OMIM:252010 NUBPL 80224 HP:0003487 Babinski sign OMIM:252010 NUBPL 80224 HP:0001639 Hypertrophic cardiomyopathy OMIM:252010 NUBPL 80224 HP:0002490 Increased CSF lactate OMIM:252010 NUBPL 80224 HP:0000543 Optic disc pallor OMIM:252010 NUBPL 80224 HP:0001423 X-linked dominant inheritance OMIM:252010 NDUFS4 4724 HP:0002878 Respiratory failure OMIM:252010 NDUFS4 4724 HP:0000618 Blindness OMIM:252010 NDUFS4 4724 HP:0001254 Lethargy OMIM:252010 NDUFS4 4724 HP:0000639 Nystagmus OMIM:252010 NDUFS4 4724 HP:0000486 Strabismus OMIM:252010 NDUFS4 4724 HP:0003202 Skeletal muscle atrophy OMIM:252010 NDUFS4 4724 HP:0002013 Vomiting OMIM:252010 NDUFS4 4724 HP:0003128 Lactic acidosis OMIM:252010 NDUFS4 4724 HP:0000508 Ptosis OMIM:252010 NDUFS4 4724 HP:0006965 Acute necrotizing encephalopathy OMIM:252010 NDUFS4 4724 HP:0001252 Muscular hypotonia OMIM:252010 NDUFS4 4724 HP:0000007 Autosomal recessive inheritance OMIM:252010 NDUFS4 4724 HP:0001272 Cerebellar atrophy OMIM:252010 NDUFS4 4724 HP:0003812 Phenotypic variability OMIM:252010 NDUFS4 4724 HP:0001263 Global developmental delay OMIM:252010 NDUFS4 4724 HP:0000407 Sensorineural hearing impairment OMIM:252010 NDUFS4 4724 HP:0001265 Hyporeflexia OMIM:252010 NDUFS4 4724 HP:0001427 Mitochondrial inheritance OMIM:252010 NDUFS4 4724 HP:0003546 Exercise intolerance OMIM:252010 NDUFS4 4724 HP:0002415 Leukodystrophy OMIM:252010 NDUFS4 4724 HP:0002376 Developmental regression OMIM:252010 NDUFS4 4724 HP:0004481 Progressive macrocephaly OMIM:252010 NDUFS4 4724 HP:0001399 Hepatic failure OMIM:252010 NDUFS4 4724 HP:0001251 Ataxia OMIM:252010 NDUFS4 4724 HP:0008872 Feeding difficulties in infancy OMIM:252010 NDUFS4 4724 HP:0001257 Spasticity OMIM:252010 NDUFS4 4724 HP:0001324 Muscle weakness OMIM:252010 NDUFS4 4724 HP:0008316 Abnormal mitochondria in muscle tissue OMIM:252010 NDUFS4 4724 HP:0001259 Coma OMIM:252010 NDUFS4 4724 HP:0001508 Failure to thrive OMIM:252010 NDUFS4 4724 HP:0001347 Hyperreflexia OMIM:252010 NDUFS4 4724 HP:0001943 Hypoglycemia OMIM:252010 NDUFS4 4724 HP:0002181 Cerebral edema OMIM:252010 NDUFS4 4724 HP:0001250 Seizures OMIM:252010 NDUFS4 4724 HP:0001510 Growth delay OMIM:252010 NDUFS4 4724 HP:0003487 Babinski sign OMIM:252010 NDUFS4 4724 HP:0001639 Hypertrophic cardiomyopathy OMIM:252010 NDUFS4 4724 HP:0002490 Increased CSF lactate OMIM:252010 NDUFS4 4724 HP:0000543 Optic disc pallor OMIM:252010 NDUFS4 4724 HP:0001423 X-linked dominant inheritance OMIM:252010 FOXRED1 55572 HP:0002878 Respiratory failure OMIM:252010 FOXRED1 55572 HP:0000618 Blindness OMIM:252010 FOXRED1 55572 HP:0001254 Lethargy OMIM:252010 FOXRED1 55572 HP:0000639 Nystagmus OMIM:252010 FOXRED1 55572 HP:0000486 Strabismus OMIM:252010 FOXRED1 55572 HP:0003202 Skeletal muscle atrophy OMIM:252010 FOXRED1 55572 HP:0002013 Vomiting OMIM:252010 FOXRED1 55572 HP:0003128 Lactic acidosis OMIM:252010 FOXRED1 55572 HP:0000508 Ptosis OMIM:252010 FOXRED1 55572 HP:0006965 Acute necrotizing encephalopathy OMIM:252010 FOXRED1 55572 HP:0001252 Muscular hypotonia OMIM:252010 FOXRED1 55572 HP:0000007 Autosomal recessive inheritance OMIM:252010 FOXRED1 55572 HP:0001272 Cerebellar atrophy OMIM:252010 FOXRED1 55572 HP:0003812 Phenotypic variability OMIM:252010 FOXRED1 55572 HP:0001263 Global developmental delay OMIM:252010 FOXRED1 55572 HP:0000407 Sensorineural hearing impairment OMIM:252010 FOXRED1 55572 HP:0001265 Hyporeflexia OMIM:252010 FOXRED1 55572 HP:0001427 Mitochondrial inheritance OMIM:252010 FOXRED1 55572 HP:0003546 Exercise intolerance OMIM:252010 FOXRED1 55572 HP:0002415 Leukodystrophy OMIM:252010 FOXRED1 55572 HP:0002376 Developmental regression OMIM:252010 FOXRED1 55572 HP:0004481 Progressive macrocephaly OMIM:252010 FOXRED1 55572 HP:0001399 Hepatic failure OMIM:252010 FOXRED1 55572 HP:0001251 Ataxia OMIM:252010 FOXRED1 55572 HP:0008872 Feeding difficulties in infancy OMIM:252010 FOXRED1 55572 HP:0001257 Spasticity OMIM:252010 FOXRED1 55572 HP:0001324 Muscle weakness OMIM:252010 FOXRED1 55572 HP:0008316 Abnormal mitochondria in muscle tissue OMIM:252010 FOXRED1 55572 HP:0001259 Coma OMIM:252010 FOXRED1 55572 HP:0001508 Failure to thrive OMIM:252010 FOXRED1 55572 HP:0001347 Hyperreflexia OMIM:252010 FOXRED1 55572 HP:0001943 Hypoglycemia OMIM:252010 FOXRED1 55572 HP:0002181 Cerebral edema OMIM:252010 FOXRED1 55572 HP:0001250 Seizures OMIM:252010 FOXRED1 55572 HP:0001510 Growth delay OMIM:252010 FOXRED1 55572 HP:0003487 Babinski sign OMIM:252010 FOXRED1 55572 HP:0001639 Hypertrophic cardiomyopathy OMIM:252010 FOXRED1 55572 HP:0002490 Increased CSF lactate OMIM:252010 FOXRED1 55572 HP:0000543 Optic disc pallor OMIM:252010 FOXRED1 55572 HP:0001423 X-linked dominant inheritance OMIM:252010 NDUFV2 4729 HP:0002878 Respiratory failure OMIM:252010 NDUFV2 4729 HP:0000618 Blindness OMIM:252010 NDUFV2 4729 HP:0001254 Lethargy OMIM:252010 NDUFV2 4729 HP:0000639 Nystagmus OMIM:252010 NDUFV2 4729 HP:0000486 Strabismus OMIM:252010 NDUFV2 4729 HP:0003202 Skeletal muscle atrophy OMIM:252010 NDUFV2 4729 HP:0002013 Vomiting OMIM:252010 NDUFV2 4729 HP:0003128 Lactic acidosis OMIM:252010 NDUFV2 4729 HP:0000508 Ptosis OMIM:252010 NDUFV2 4729 HP:0006965 Acute necrotizing encephalopathy OMIM:252010 NDUFV2 4729 HP:0001252 Muscular hypotonia OMIM:252010 NDUFV2 4729 HP:0000007 Autosomal recessive inheritance OMIM:252010 NDUFV2 4729 HP:0001272 Cerebellar atrophy OMIM:252010 NDUFV2 4729 HP:0003812 Phenotypic variability OMIM:252010 NDUFV2 4729 HP:0001263 Global developmental delay OMIM:252010 NDUFV2 4729 HP:0000407 Sensorineural hearing impairment OMIM:252010 NDUFV2 4729 HP:0001265 Hyporeflexia OMIM:252010 NDUFV2 4729 HP:0001427 Mitochondrial inheritance OMIM:252010 NDUFV2 4729 HP:0003546 Exercise intolerance OMIM:252010 NDUFV2 4729 HP:0002415 Leukodystrophy OMIM:252010 NDUFV2 4729 HP:0002376 Developmental regression OMIM:252010 NDUFV2 4729 HP:0004481 Progressive macrocephaly OMIM:252010 NDUFV2 4729 HP:0001399 Hepatic failure OMIM:252010 NDUFV2 4729 HP:0001251 Ataxia OMIM:252010 NDUFV2 4729 HP:0008872 Feeding difficulties in infancy OMIM:252010 NDUFV2 4729 HP:0001257 Spasticity OMIM:252010 NDUFV2 4729 HP:0001324 Muscle weakness OMIM:252010 NDUFV2 4729 HP:0008316 Abnormal mitochondria in muscle tissue OMIM:252010 NDUFV2 4729 HP:0001259 Coma OMIM:252010 NDUFV2 4729 HP:0001508 Failure to thrive OMIM:252010 NDUFV2 4729 HP:0001347 Hyperreflexia OMIM:252010 NDUFV2 4729 HP:0001943 Hypoglycemia OMIM:252010 NDUFV2 4729 HP:0002181 Cerebral edema OMIM:252010 NDUFV2 4729 HP:0001250 Seizures OMIM:252010 NDUFV2 4729 HP:0001510 Growth delay OMIM:252010 NDUFV2 4729 HP:0003487 Babinski sign OMIM:252010 NDUFV2 4729 HP:0001639 Hypertrophic cardiomyopathy OMIM:252010 NDUFV2 4729 HP:0002490 Increased CSF lactate OMIM:252010 NDUFV2 4729 HP:0000543 Optic disc pallor OMIM:252010 NDUFV2 4729 HP:0001423 X-linked dominant inheritance OMIM:607371 ACTB 60 HP:0000518 Cataract OMIM:607371 ACTB 60 HP:0000912 Sprengel anomaly OMIM:607371 ACTB 60 HP:0011342 Mild global developmental delay OMIM:607371 ACTB 60 HP:0000316 Hypertelorism OMIM:607371 ACTB 60 HP:0010978 Abnormality of immune system physiology OMIM:607371 ACTB 60 HP:0004322 Short stature OMIM:607371 ACTB 60 HP:0002751 Kyphoscoliosis OMIM:607371 ACTB 60 HP:0000202 Oral cleft OMIM:607371 ACTB 60 HP:0003272 Abnormality of the hip bone OMIM:607371 ACTB 60 HP:0000157 Abnormality of the tongue OMIM:607371 ACTB 60 HP:0000882 Hypoplastic scapulae OMIM:607371 ACTB 60 HP:0000407 Sensorineural hearing impairment OMIM:607371 ACTB 60 HP:0002376 Developmental regression OMIM:607371 ACTB 60 HP:0002571 Achalasia OMIM:607371 ACTB 60 HP:0002808 Kyphosis OMIM:607371 ACTB 60 HP:0008872 Feeding difficulties in infancy OMIM:607371 ACTB 60 HP:0000348 High forehead OMIM:607371 ACTB 60 HP:0000175 Cleft palate OMIM:607371 ACTB 60 HP:0000006 Autosomal dominant inheritance OMIM:607371 ACTB 60 HP:0002579 Gastrointestinal dysmotility OMIM:607371 ACTB 60 HP:0000204 Cleft upper lip OMIM:607371 ACTB 60 HP:0002650 Scoliosis OMIM:607371 ACTB 60 HP:0007325 Generalized dystonia OMIM:607371 ACTB 60 HP:0002983 Micromelia OMIM:607371 ACTB 60 HP:0001256 Intellectual disability, mild OMIM:607371 ACTB 60 HP:0000505 Visual impairment OMIM:607371 ACTB 60 HP:0001518 Small for gestational age OMIM:607371 ACTB 60 HP:0100543 Cognitive impairment OMIM:607371 ACTB 60 HP:0008796 Externally rotated hips OMIM:616354 SNX14 57231 HP:0001263 Global developmental delay OMIM:616354 SNX14 57231 HP:0000678 Dental crowding OMIM:616354 SNX14 57231 HP:0001321 Cerebellar hypoplasia OMIM:616354 SNX14 57231 HP:0002186 Apraxia OMIM:616354 SNX14 57231 HP:0000684 Delayed eruption of teeth OMIM:616354 SNX14 57231 HP:0000218 High palate OMIM:616354 SNX14 57231 HP:0012385 Camptodactyly OMIM:616354 SNX14 57231 HP:0011220 Prominent forehead OMIM:616354 SNX14 57231 HP:0001265 Hyporeflexia OMIM:616354 SNX14 57231 HP:0000639 Nystagmus OMIM:616354 SNX14 57231 HP:0000280 Coarse facial features OMIM:616354 SNX14 57231 HP:0001251 Ataxia OMIM:616354 SNX14 57231 HP:0000407 Sensorineural hearing impairment OMIM:616354 SNX14 57231 HP:0000283 Broad face OMIM:616354 SNX14 57231 HP:0004482 Relative macrocephaly OMIM:616354 SNX14 57231 HP:0000286 Epicanthus OMIM:616354 SNX14 57231 HP:0001250 Seizures OMIM:616354 SNX14 57231 HP:0012810 Wide nasal base OMIM:616354 SNX14 57231 HP:0012745 Short palpebral fissure OMIM:616354 SNX14 57231 HP:0002650 Scoliosis OMIM:616354 SNX14 57231 HP:0000729 Autistic behavior OMIM:616354 SNX14 57231 HP:0001257 Spasticity OMIM:616354 SNX14 57231 HP:0000289 Broad philtrum OMIM:616354 SNX14 57231 HP:0003487 Babinski sign OMIM:616354 SNX14 57231 HP:0000998 Hypertrichosis OMIM:616354 SNX14 57231 HP:0001252 Muscular hypotonia OMIM:616354 SNX14 57231 HP:0002540 Inability to walk OMIM:616354 SNX14 57231 HP:0000158 Macroglossia OMIM:616354 SNX14 57231 HP:0001156 Brachydactyly syndrome OMIM:616354 SNX14 57231 HP:0002120 Cerebral cortical atrophy OMIM:616354 SNX14 57231 HP:0030084 Clinodactyly OMIM:616354 SNX14 57231 HP:0001762 Talipes equinovarus OMIM:616354 SNX14 57231 HP:0001272 Cerebellar atrophy OMIM:616354 SNX14 57231 HP:0012471 Thick vermilion border OMIM:616354 SNX14 57231 HP:0000343 Long philtrum OMIM:613827 GUCA1B 2979 HP:0000510 Retinitis pigmentosa OMIM:613827 GUCA1B 2979 HP:0000505 Visual impairment OMIM:613827 GUCA1B 2979 HP:0000006 Autosomal dominant inheritance OMIM:610246 AFG3L2 10939 HP:0003677 Slow progression OMIM:610246 AFG3L2 10939 HP:0001260 Dysarthria OMIM:610246 AFG3L2 10939 HP:0001257 Spasticity OMIM:610246 AFG3L2 10939 HP:0002066 Gait ataxia OMIM:610246 AFG3L2 10939 HP:0001332 Dystonia OMIM:610246 AFG3L2 10939 HP:0000597 Ophthalmoparesis OMIM:610246 AFG3L2 10939 HP:0000641 Dysmetric saccades OMIM:610246 AFG3L2 10939 HP:0001300 Parkinsonism OMIM:610246 AFG3L2 10939 HP:0000514 Slow saccadic eye movements OMIM:610246 AFG3L2 10939 HP:0000508 Ptosis OMIM:610246 AFG3L2 10939 HP:0002070 Limb ataxia OMIM:610246 AFG3L2 10939 HP:0002395 Lower limb hyperreflexia OMIM:610246 AFG3L2 10939 HP:0001272 Cerebellar atrophy OMIM:610246 AFG3L2 10939 HP:0000640 Gaze-evoked nystagmus OMIM:610246 AFG3L2 10939 HP:0000006 Autosomal dominant inheritance OMIM:610246 AFG3L2 10939 HP:0003487 Babinski sign ORPHANET:220497 NPHP1 4867 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:220497 NPHP1 4867 HP:0001337 Tremor ORPHANET:220497 NPHP1 4867 HP:0002251 Aganglionic megacolon ORPHANET:220497 NPHP1 4867 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:220497 NPHP1 4867 HP:0002104 Apnea ORPHANET:220497 NPHP1 4867 HP:0001250 Seizures ORPHANET:220497 NPHP1 4867 HP:0000426 Prominent nasal bridge ORPHANET:220497 NPHP1 4867 HP:0000508 Ptosis ORPHANET:220497 NPHP1 4867 HP:0000083 Renal insufficiency ORPHANET:220497 NPHP1 4867 HP:0001161 Hand polydactyly ORPHANET:220497 NPHP1 4867 HP:0002084 Encephalocele ORPHANET:220497 NPHP1 4867 HP:0002269 Abnormality of neuronal migration ORPHANET:220497 NPHP1 4867 HP:0001288 Gait disturbance ORPHANET:220497 NPHP1 4867 HP:0000276 Long face ORPHANET:220497 NPHP1 4867 HP:0000657 Oculomotor apraxia ORPHANET:220497 NPHP1 4867 HP:0000639 Nystagmus ORPHANET:220497 NPHP1 4867 HP:0002311 Incoordination ORPHANET:220497 NPHP1 4867 HP:0100543 Cognitive impairment ORPHANET:220497 NPHP1 4867 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:220497 NPHP1 4867 HP:0002553 Highly arched eyebrow ORPHANET:220497 NPHP1 4867 HP:0002650 Scoliosis ORPHANET:220497 NPHP1 4867 HP:0000486 Strabismus ORPHANET:220497 NPHP1 4867 HP:0000238 Hydrocephalus ORPHANET:220497 NPHP1 4867 HP:0000202 Oral cleft ORPHANET:220497 NPHP1 4867 HP:0000112 Nephropathy ORPHANET:220497 NPHP1 4867 HP:0000463 Anteverted nares ORPHANET:220497 NPHP1 4867 HP:0000341 Narrow forehead ORPHANET:220497 NPHP1 4867 HP:0000612 Iris coloboma ORPHANET:220497 NPHP1 4867 HP:0001252 Muscular hypotonia ORPHANET:220497 NPHP1 4867 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:220497 NPHP1 4867 HP:0002564 Malformation of the heart and great vessels ORPHANET:220497 TMEM237 65062 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:220497 TMEM237 65062 HP:0001337 Tremor ORPHANET:220497 TMEM237 65062 HP:0002251 Aganglionic megacolon ORPHANET:220497 TMEM237 65062 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:220497 TMEM237 65062 HP:0002104 Apnea ORPHANET:220497 TMEM237 65062 HP:0001250 Seizures ORPHANET:220497 TMEM237 65062 HP:0000426 Prominent nasal bridge ORPHANET:220497 TMEM237 65062 HP:0000508 Ptosis ORPHANET:220497 TMEM237 65062 HP:0000083 Renal insufficiency ORPHANET:220497 TMEM237 65062 HP:0001161 Hand polydactyly ORPHANET:220497 TMEM237 65062 HP:0002084 Encephalocele ORPHANET:220497 TMEM237 65062 HP:0002269 Abnormality of neuronal migration ORPHANET:220497 TMEM237 65062 HP:0001288 Gait disturbance ORPHANET:220497 TMEM237 65062 HP:0000276 Long face ORPHANET:220497 TMEM237 65062 HP:0000657 Oculomotor apraxia ORPHANET:220497 TMEM237 65062 HP:0000639 Nystagmus ORPHANET:220497 TMEM237 65062 HP:0002311 Incoordination ORPHANET:220497 TMEM237 65062 HP:0100543 Cognitive impairment ORPHANET:220497 TMEM237 65062 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:220497 TMEM237 65062 HP:0002553 Highly arched eyebrow ORPHANET:220497 TMEM237 65062 HP:0002650 Scoliosis ORPHANET:220497 TMEM237 65062 HP:0000486 Strabismus ORPHANET:220497 TMEM237 65062 HP:0000238 Hydrocephalus ORPHANET:220497 TMEM237 65062 HP:0000202 Oral cleft ORPHANET:220497 TMEM237 65062 HP:0000112 Nephropathy ORPHANET:220497 TMEM237 65062 HP:0000463 Anteverted nares ORPHANET:220497 TMEM237 65062 HP:0000341 Narrow forehead ORPHANET:220497 TMEM237 65062 HP:0000612 Iris coloboma ORPHANET:220497 TMEM237 65062 HP:0001252 Muscular hypotonia ORPHANET:220497 TMEM237 65062 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:220497 TMEM237 65062 HP:0002564 Malformation of the heart and great vessels ORPHANET:220497 RPGRIP1L 23322 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:220497 RPGRIP1L 23322 HP:0001337 Tremor ORPHANET:220497 RPGRIP1L 23322 HP:0002251 Aganglionic megacolon ORPHANET:220497 RPGRIP1L 23322 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:220497 RPGRIP1L 23322 HP:0002104 Apnea ORPHANET:220497 RPGRIP1L 23322 HP:0001250 Seizures ORPHANET:220497 RPGRIP1L 23322 HP:0000426 Prominent nasal bridge ORPHANET:220497 RPGRIP1L 23322 HP:0000508 Ptosis ORPHANET:220497 RPGRIP1L 23322 HP:0000083 Renal insufficiency ORPHANET:220497 RPGRIP1L 23322 HP:0001161 Hand polydactyly ORPHANET:220497 RPGRIP1L 23322 HP:0002084 Encephalocele ORPHANET:220497 RPGRIP1L 23322 HP:0002269 Abnormality of neuronal migration ORPHANET:220497 RPGRIP1L 23322 HP:0001288 Gait disturbance ORPHANET:220497 RPGRIP1L 23322 HP:0000276 Long face ORPHANET:220497 RPGRIP1L 23322 HP:0000657 Oculomotor apraxia ORPHANET:220497 RPGRIP1L 23322 HP:0000639 Nystagmus ORPHANET:220497 RPGRIP1L 23322 HP:0002311 Incoordination ORPHANET:220497 RPGRIP1L 23322 HP:0100543 Cognitive impairment ORPHANET:220497 RPGRIP1L 23322 HP:0000864 Abnormality of the hypothalamus-pituitary axis ORPHANET:220497 RPGRIP1L 23322 HP:0002553 Highly arched eyebrow ORPHANET:220497 RPGRIP1L 23322 HP:0002650 Scoliosis ORPHANET:220497 RPGRIP1L 23322 HP:0000486 Strabismus ORPHANET:220497 RPGRIP1L 23322 HP:0000238 Hydrocephalus ORPHANET:220497 RPGRIP1L 23322 HP:0000202 Oral cleft ORPHANET:220497 RPGRIP1L 23322 HP:0000112 Nephropathy ORPHANET:220497 RPGRIP1L 23322 HP:0000463 Anteverted nares ORPHANET:220497 RPGRIP1L 23322 HP:0000341 Narrow forehead ORPHANET:220497 RPGRIP1L 23322 HP:0000612 Iris coloboma ORPHANET:220497 RPGRIP1L 23322 HP:0001252 Muscular hypotonia ORPHANET:220497 RPGRIP1L 23322 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:220497 RPGRIP1L 23322 HP:0002564 Malformation of the heart and great vessels OMIM:101900 ATP2A2 488 HP:0001807 Ridged nail OMIM:101900 ATP2A2 488 HP:0000006 Autosomal dominant inheritance OMIM:101900 ATP2A2 488 HP:0200016 Acrokeratosis OMIM:101900 ATP2A2 488 HP:0000962 Hyperkeratosis OMIM:158320 MSH2 4436 HP:0006753 Neoplasm of the stomach OMIM:158320 MSH2 4436 HP:0010784 Uterine neoplasm OMIM:158320 MSH2 4436 HP:0100013 Neoplasm of the breast OMIM:158320 MSH2 4436 HP:0009720 Adenoma sebaceum OMIM:158320 MSH2 4436 HP:0100684 Salivary gland neoplasm OMIM:158320 MSH2 4436 HP:0100273 Neoplasm of the colon OMIM:158320 MSH2 4436 HP:0100615 Ovarian neoplasm OMIM:158320 MSH2 4436 HP:0006778 Benign genitourinary tract neoplasm OMIM:158320 MSH2 4436 HP:0009726 Renal neoplasm OMIM:158320 MSH2 4436 HP:0003003 Colon cancer OMIM:158320 MSH2 4436 HP:0004377 Hematological neoplasm OMIM:158320 MSH2 4436 HP:0006719 Benign gastrointestinal tract tumors OMIM:158320 MSH2 4436 HP:0012118 Laryngeal carcinoma OMIM:158320 MSH2 4436 HP:0003002 Breast carcinoma OMIM:158320 MSH2 4436 HP:0006758 Malignant genitourinary tract tumor OMIM:158320 MSH2 4436 HP:0002253 Colonic diverticulosis OMIM:158320 MSH2 4436 HP:0002671 Basal cell carcinoma OMIM:158320 MSH2 4436 HP:0030410 Sebaceous gland carcinoma OMIM:158320 MSH2 4436 HP:0000006 Autosomal dominant inheritance OMIM:158320 MSH2 4436 HP:0002896 Neoplasm of the liver OMIM:158320 MSH2 4436 HP:0006771 Duodenal adenocarcinoma OMIM:158320 MLH1 4292 HP:0006753 Neoplasm of the stomach OMIM:158320 MLH1 4292 HP:0010784 Uterine neoplasm OMIM:158320 MLH1 4292 HP:0100013 Neoplasm of the breast OMIM:158320 MLH1 4292 HP:0009720 Adenoma sebaceum OMIM:158320 MLH1 4292 HP:0100684 Salivary gland neoplasm OMIM:158320 MLH1 4292 HP:0100273 Neoplasm of the colon OMIM:158320 MLH1 4292 HP:0100615 Ovarian neoplasm OMIM:158320 MLH1 4292 HP:0006778 Benign genitourinary tract neoplasm OMIM:158320 MLH1 4292 HP:0009726 Renal neoplasm OMIM:158320 MLH1 4292 HP:0003003 Colon cancer OMIM:158320 MLH1 4292 HP:0004377 Hematological neoplasm OMIM:158320 MLH1 4292 HP:0006719 Benign gastrointestinal tract tumors OMIM:158320 MLH1 4292 HP:0012118 Laryngeal carcinoma OMIM:158320 MLH1 4292 HP:0003002 Breast carcinoma OMIM:158320 MLH1 4292 HP:0006758 Malignant genitourinary tract tumor OMIM:158320 MLH1 4292 HP:0002253 Colonic diverticulosis OMIM:158320 MLH1 4292 HP:0002671 Basal cell carcinoma OMIM:158320 MLH1 4292 HP:0030410 Sebaceous gland carcinoma OMIM:158320 MLH1 4292 HP:0000006 Autosomal dominant inheritance OMIM:158320 MLH1 4292 HP:0002896 Neoplasm of the liver OMIM:158320 MLH1 4292 HP:0006771 Duodenal adenocarcinoma ORPHANET:2268 ZBTB24 9841 HP:0001888 Lymphopenia ORPHANET:2268 ZBTB24 9841 HP:0001903 Anemia ORPHANET:2268 ZBTB24 9841 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2268 ZBTB24 9841 HP:0000286 Epicanthus ORPHANET:2268 ZBTB24 9841 HP:0005374 Cellular immunodeficiency ORPHANET:2268 ZBTB24 9841 HP:0000157 Abnormality of the tongue ORPHANET:2268 ZBTB24 9841 HP:0002205 Recurrent respiratory infections ORPHANET:2268 ZBTB24 9841 HP:0000316 Hypertelorism ORPHANET:2268 ZBTB24 9841 HP:0000347 Micrognathia ORPHANET:2268 ZBTB24 9841 HP:0001874 Abnormality of neutrophils ORPHANET:2268 ZBTB24 9841 HP:0005280 Depressed nasal bridge ORPHANET:2268 ZBTB24 9841 HP:0004322 Short stature ORPHANET:2268 ZBTB24 9841 HP:0000272 Malar flattening ORPHANET:2268 ZBTB24 9841 HP:0000256 Macrocephaly ORPHANET:2268 ZBTB24 9841 HP:0001537 Umbilical hernia ORPHANET:2268 ZBTB24 9841 HP:0004313 Hypogammaglobulinemia ORPHANET:2268 ZBTB24 9841 HP:0100543 Cognitive impairment ORPHANET:2268 ZBTB24 9841 HP:0002024 Malabsorption ORPHANET:2268 ZBTB24 9841 HP:0001334 Communicating hydrocephalus ORPHANET:2268 DNMT3B 1789 HP:0001888 Lymphopenia ORPHANET:2268 DNMT3B 1789 HP:0001903 Anemia ORPHANET:2268 DNMT3B 1789 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2268 DNMT3B 1789 HP:0000286 Epicanthus ORPHANET:2268 DNMT3B 1789 HP:0005374 Cellular immunodeficiency ORPHANET:2268 DNMT3B 1789 HP:0000157 Abnormality of the tongue ORPHANET:2268 DNMT3B 1789 HP:0002205 Recurrent respiratory infections ORPHANET:2268 DNMT3B 1789 HP:0000316 Hypertelorism ORPHANET:2268 DNMT3B 1789 HP:0000347 Micrognathia ORPHANET:2268 DNMT3B 1789 HP:0001874 Abnormality of neutrophils ORPHANET:2268 DNMT3B 1789 HP:0005280 Depressed nasal bridge ORPHANET:2268 DNMT3B 1789 HP:0004322 Short stature ORPHANET:2268 DNMT3B 1789 HP:0000272 Malar flattening ORPHANET:2268 DNMT3B 1789 HP:0000256 Macrocephaly ORPHANET:2268 DNMT3B 1789 HP:0001537 Umbilical hernia ORPHANET:2268 DNMT3B 1789 HP:0004313 Hypogammaglobulinemia ORPHANET:2268 DNMT3B 1789 HP:0100543 Cognitive impairment ORPHANET:2268 DNMT3B 1789 HP:0002024 Malabsorption ORPHANET:2268 DNMT3B 1789 HP:0001334 Communicating hydrocephalus OMIM:614963 LEPR 3953 HP:0002591 Polyphagia OMIM:614963 LEPR 3953 HP:0001513 Obesity OMIM:614963 LEPR 3953 HP:0012286 Abnormal hypothalamus morphology OMIM:614963 LEPR 3953 HP:0002958 Immune dysregulation OMIM:614963 LEPR 3953 HP:0000718 Aggressive behavior OMIM:614963 LEPR 3953 HP:0000815 Hypergonadotropic hypogonadism OMIM:614963 LEPR 3953 HP:0008245 Pituitary hypothyroidism OMIM:614963 LEPR 3953 HP:0000824 Growth hormone deficiency OMIM:614963 LEPR 3953 HP:0000823 Delayed puberty OMIM:614944 OTOGL 283310 HP:0000365 Hearing impairment OMIM:614944 OTOGL 283310 HP:0001756 Vestibular hypofunction OMIM:614944 OTOGL 283310 HP:0000007 Autosomal recessive inheritance OMIM:243500 IVD 3712 HP:0001942 Metabolic acidosis OMIM:243500 IVD 3712 HP:0001250 Seizures OMIM:243500 IVD 3712 HP:0001882 Leukopenia OMIM:243500 IVD 3712 HP:0003108 Hyperglycinuria OMIM:243500 IVD 3712 HP:0011695 Cerebellar hemorrhage OMIM:243500 IVD 3712 HP:0001993 Ketoacidosis OMIM:243500 IVD 3712 HP:0001944 Dehydration OMIM:243500 IVD 3712 HP:0002013 Vomiting OMIM:243500 IVD 3712 HP:0100543 Cognitive impairment OMIM:243500 IVD 3712 HP:0001873 Thrombocytopenia OMIM:243500 IVD 3712 HP:0001876 Pancytopenia OMIM:243500 IVD 3712 HP:0001263 Global developmental delay OMIM:243500 IVD 3712 HP:0005528 Bone marrow hypocellularity OMIM:243500 IVD 3712 HP:0001254 Lethargy OMIM:243500 IVD 3712 HP:0001259 Coma OMIM:243500 IVD 3712 HP:0003355 Aminoaciduria OMIM:243500 IVD 3712 HP:0000007 Autosomal recessive inheritance OMIM:614305 LRP4 4038 HP:0010628 Facial palsy OMIM:614305 LRP4 4038 HP:0000365 Hearing impairment OMIM:614305 LRP4 4038 HP:0002164 Nail dysplasia OMIM:614305 LRP4 4038 HP:0000316 Hypertelorism OMIM:614305 LRP4 4038 HP:0009381 Short finger OMIM:614305 LRP4 4038 HP:0000256 Macrocephaly OMIM:614305 LRP4 4038 HP:0000006 Autosomal dominant inheritance OMIM:614305 LRP4 4038 HP:0002007 Frontal bossing OMIM:614305 LRP4 4038 HP:0000007 Autosomal recessive inheritance OMIM:614305 LRP4 4038 HP:0000303 Mandibular prognathia OMIM:614305 LRP4 4038 HP:0010554 Cutaneous finger syndactyly OMIM:489500 XGR 7501 HP:0001871 Abnormality of blood and blood-forming tissues OMIM:489500 XGR 7501 HP:0002664 Neoplasm OMIM:236680 HYLS1 219844 HP:0008216 Adrenal gland dysgenesis OMIM:236680 HYLS1 219844 HP:0000369 Low-set ears OMIM:236680 HYLS1 219844 HP:0000142 Abnormality of the vagina OMIM:236680 HYLS1 219844 HP:0000377 Abnormality of the pinna OMIM:236680 HYLS1 219844 HP:0011803 Bifid nose OMIM:236680 HYLS1 219844 HP:0002101 Abnormal lung lobation OMIM:236680 HYLS1 219844 HP:0000568 Microphthalmos OMIM:236680 HYLS1 219844 HP:0001177 Preaxial hand polydactyly OMIM:236680 HYLS1 219844 HP:0009752 Cleft in skull base OMIM:236680 HYLS1 219844 HP:0003826 Stillbirth OMIM:236680 HYLS1 219844 HP:0000161 Median cleft lip OMIM:236680 HYLS1 219844 HP:0001539 Omphalocele OMIM:236680 HYLS1 219844 HP:0000175 Cleft palate OMIM:236680 HYLS1 219844 HP:0001331 Absent septum pellucidum OMIM:236680 HYLS1 219844 HP:0000136 Bifid uterus OMIM:236680 HYLS1 219844 HP:0000007 Autosomal recessive inheritance OMIM:236680 HYLS1 219844 HP:0002139 Arrhinencephaly OMIM:236680 HYLS1 219844 HP:0001162 Postaxial hand polydactyly OMIM:236680 HYLS1 219844 HP:0010066 Duplication of phalanx of hallux OMIM:236680 HYLS1 219844 HP:0000347 Micrognathia OMIM:236680 HYLS1 219844 HP:0000126 Hydronephrosis OMIM:236680 HYLS1 219844 HP:0001747 Accessory spleen OMIM:236680 HYLS1 219844 HP:0002536 Abnormal cortical gyration OMIM:236680 HYLS1 219844 HP:0009824 Upper limb undergrowth OMIM:236680 HYLS1 219844 HP:0000047 Hypospadias OMIM:236680 HYLS1 219844 HP:0001274 Agenesis of corpus callosum OMIM:236680 HYLS1 219844 HP:0008986 Agenesis of the diaphragm OMIM:236680 HYLS1 219844 HP:0006882 Severe hydrocephalus OMIM:236680 HYLS1 219844 HP:0008749 Laryngeal hypoplasia OMIM:236680 HYLS1 219844 HP:0006379 Proximal tibial hypopolasia OMIM:236680 HYLS1 219844 HP:0001762 Talipes equinovarus OMIM:236680 HYLS1 219844 HP:0002282 Heterotopia OMIM:236680 HYLS1 219844 HP:0001305 Dandy-Walker malformation OMIM:236680 HYLS1 219844 HP:0000475 Broad neck OMIM:236680 HYLS1 219844 HP:0001561 Polyhydramnios OMIM:236680 HYLS1 219844 HP:0001674 Complete atrioventricular canal defect OMIM:236680 HYLS1 219844 HP:0002777 Tracheal stenosis OMIM:236680 HYLS1 219844 HP:0001511 Intrauterine growth retardation OMIM:236680 HYLS1 219844 HP:0001629 Ventricular septal defect OMIM:106100 SERPING1 710 HP:0012027 Laryngeal edema OMIM:106100 SERPING1 710 HP:0011855 Pharyngeal edema OMIM:106100 SERPING1 710 HP:0002013 Vomiting OMIM:106100 SERPING1 710 HP:0100665 Angioedema OMIM:106100 SERPING1 710 HP:0005225 Intestinal edema OMIM:106100 SERPING1 710 HP:0002027 Abdominal pain OMIM:106100 SERPING1 710 HP:0001600 Abnormality of the larynx OMIM:106100 SERPING1 710 HP:0002960 Autoimmunity OMIM:106100 SERPING1 710 HP:0002014 Diarrhea OMIM:106100 SERPING1 710 HP:0003477 Peripheral axonal neuropathy OMIM:106100 SERPING1 710 HP:0000006 Autosomal dominant inheritance OMIM:106100 SERPING1 710 HP:0010783 Erythema OMIM:607101 MYO3A 53904 HP:0001730 Progressive hearing impairment OMIM:607101 MYO3A 53904 HP:0000007 Autosomal recessive inheritance OMIM:609313 AP1S1 1174 HP:0001394 Cirrhosis OMIM:609313 AP1S1 1174 HP:0001395 Hepatic fibrosis OMIM:609313 AP1S1 1174 HP:0002014 Diarrhea OMIM:609313 AP1S1 1174 HP:0002242 Abnormality of the intestine OMIM:609313 AP1S1 1174 HP:0001249 Intellectual disability OMIM:609313 AP1S1 1174 HP:0000348 High forehead OMIM:609313 AP1S1 1174 HP:0001396 Cholestasis OMIM:609313 AP1S1 1174 HP:0008064 Ichthyosis OMIM:609313 AP1S1 1174 HP:0003577 Congenital onset OMIM:609313 AP1S1 1174 HP:0000518 Cataract OMIM:609313 AP1S1 1174 HP:0010783 Erythema OMIM:609313 AP1S1 1174 HP:0000007 Autosomal recessive inheritance OMIM:609313 AP1S1 1174 HP:0000582 Upslanted palpebral fissure OMIM:609313 AP1S1 1174 HP:0001510 Growth delay OMIM:609313 AP1S1 1174 HP:0001263 Global developmental delay OMIM:609313 AP1S1 1174 HP:0001252 Muscular hypotonia OMIM:609313 AP1S1 1174 HP:0009830 Peripheral neuropathy OMIM:615883 ORAI1 84876 HP:0003324 Generalized muscle weakness OMIM:615883 ORAI1 84876 HP:0002901 Hypocalcemia OMIM:615883 ORAI1 84876 HP:0003236 Elevated serum creatine phosphokinase OMIM:615883 ORAI1 84876 HP:0002522 Areflexia of lower limbs OMIM:615883 ORAI1 84876 HP:0000616 Miosis OMIM:615883 ORAI1 84876 HP:0001371 Flexion contracture OMIM:615883 ORAI1 84876 HP:0009027 Foot dorsiflexor weakness OMIM:615883 ORAI1 84876 HP:0003306 Spinal rigidity OMIM:302905 TBX22 50945 HP:0000028 Cryptorchidism OMIM:302905 TBX22 50945 HP:0000400 Macrotia OMIM:302905 TBX22 50945 HP:0001156 Brachydactyly syndrome OMIM:302905 TBX22 50945 HP:0000407 Sensorineural hearing impairment OMIM:302905 TBX22 50945 HP:0000047 Hypospadias OMIM:302905 TBX22 50945 HP:0006482 Abnormality of dental morphology OMIM:302905 TBX22 50945 HP:0004322 Short stature OMIM:302905 TBX22 50945 HP:0000365 Hearing impairment OMIM:302905 TBX22 50945 HP:0000272 Malar flattening OMIM:302905 TBX22 50945 HP:0009465 Ulnar deviation of finger OMIM:302905 TBX22 50945 HP:0000286 Epicanthus OMIM:302905 TBX22 50945 HP:0000567 Chorioretinal coloboma OMIM:302905 TBX22 50945 HP:0001631 Defect in the atrial septum OMIM:302905 TBX22 50945 HP:0000612 Iris coloboma OMIM:302905 TBX22 50945 HP:0001831 Short toe OMIM:302905 TBX22 50945 HP:0000175 Cleft palate OMIM:302905 TBX22 50945 HP:0010669 Cheekbone underdevelopment OMIM:302905 TBX22 50945 HP:0000589 Coloboma OMIM:302905 TBX22 50945 HP:0100542 Abnormal localization of kidney OMIM:302905 TBX22 50945 HP:0000482 Microcornea OMIM:302905 TBX22 50945 HP:0002974 Radioulnar synostosis OMIM:302905 TBX22 50945 HP:0100627 Displacement of the external urethral meatus OMIM:302905 TBX22 50945 HP:0010751 Chin dimple OMIM:302905 TBX22 50945 HP:0000405 Conductive hearing impairment OMIM:302905 TBX22 50945 HP:0001770 Toe syndactyly OMIM:302905 TBX22 50945 HP:0000411 Protruding ear OMIM:302905 TBX22 50945 HP:0001417 X-linked inheritance OMIM:516050 COX3 4514 HP:0001085 Papilledema OMIM:516050 COX3 4514 HP:0003674 Onset OMIM:516050 COX3 4514 HP:0001129 Large central visual field defect OMIM:516050 COX3 4514 HP:0001117 Sudden central visual loss OMIM:516050 COX3 4514 HP:0000543 Optic disc pallor OMIM:516050 COX3 4514 HP:0001939 Abnormality of metabolism/homeostasis OMIM:516050 COX3 4514 HP:0002315 Headache OMIM:516050 COX3 4514 HP:0001427 Mitochondrial inheritance OMIM:516050 COX3 4514 HP:0001112 Leber optic atrophy OMIM:102370 FBN1 2200 HP:0000179 Thick lower lip vermilion OMIM:102370 FBN1 2200 HP:0004279 Short palm OMIM:102370 FBN1 2200 HP:0003196 Short nose OMIM:102370 FBN1 2200 HP:0000160 Narrow mouth OMIM:102370 FBN1 2200 HP:0001609 Hoarse voice OMIM:102370 FBN1 2200 HP:0009803 Short phalanx of finger OMIM:102370 FBN1 2200 HP:0000414 Bulbous nose OMIM:102370 FBN1 2200 HP:0002750 Delayed skeletal maturation OMIM:102370 FBN1 2200 HP:0000006 Autosomal dominant inheritance OMIM:102370 FBN1 2200 HP:0001773 Short foot OMIM:102370 FBN1 2200 HP:0002823 Abnormality of the femur OMIM:102370 FBN1 2200 HP:0000762 Decreased nerve conduction velocity OMIM:102370 FBN1 2200 HP:0000343 Long philtrum OMIM:102370 FBN1 2200 HP:0010049 Short metacarpal OMIM:102370 FBN1 2200 HP:0003510 Severe short stature OMIM:102370 FBN1 2200 HP:0000311 Round face OMIM:102370 FBN1 2200 HP:0001156 Brachydactyly syndrome OMIM:102370 FBN1 2200 HP:0000527 Long eyelashes OMIM:102370 FBN1 2200 HP:0003026 Short long bone OMIM:102370 FBN1 2200 HP:0003300 Ovoid vertebral bodies OMIM:102370 FBN1 2200 HP:0010579 Cone-shaped epiphysis OMIM:102370 FBN1 2200 HP:0001376 Limitation of joint mobility OMIM:102370 FBN1 2200 HP:0005900 Fifth metacarpal with ulnar notch OMIM:102370 FBN1 2200 HP:0000478 Abnormality of the eye OMIM:102370 FBN1 2200 HP:0001072 Thickened skin OMIM:102370 FBN1 2200 HP:0000463 Anteverted nares OMIM:102370 FBN1 2200 HP:0002002 Deep philtrum OMIM:614185 FBN1 2200 HP:0040083 Toe walking OMIM:614185 FBN1 2200 HP:0002092 Pulmonary hypertension OMIM:614185 FBN1 2200 HP:0001653 Mitral regurgitation OMIM:614185 FBN1 2200 HP:0001773 Short foot OMIM:614185 FBN1 2200 HP:0000343 Long philtrum OMIM:614185 FBN1 2200 HP:0002750 Delayed skeletal maturation OMIM:614185 FBN1 2200 HP:0002093 Respiratory insufficiency OMIM:614185 FBN1 2200 HP:0000293 Full cheeks OMIM:614185 FBN1 2200 HP:0001634 Mitral valve prolapse OMIM:614185 FBN1 2200 HP:0003300 Ovoid vertebral bodies OMIM:614185 FBN1 2200 HP:0004279 Short palm OMIM:614185 FBN1 2200 HP:0000219 Thin upper lip vermilion OMIM:614185 FBN1 2200 HP:0001650 Aortic valve stenosis OMIM:614185 FBN1 2200 HP:0004322 Short stature OMIM:614185 FBN1 2200 HP:0000319 Smooth philtrum OMIM:614185 FBN1 2200 HP:0010579 Cone-shaped epiphysis OMIM:614185 FBN1 2200 HP:0001387 Joint stiffness OMIM:614185 FBN1 2200 HP:0002240 Hepatomegaly OMIM:614185 FBN1 2200 HP:0001718 Mitral stenosis OMIM:614185 FBN1 2200 HP:0000006 Autosomal dominant inheritance OMIM:614185 FBN1 2200 HP:0000316 Hypertelorism OMIM:607841 MYO1A 4640 HP:0000407 Sensorineural hearing impairment OMIM:607841 MYO1A 4640 HP:0000006 Autosomal dominant inheritance OMIM:616342 CDK5 1020 HP:0002804 Arthrogryposis multiplex congenita OMIM:616342 CDK5 1020 HP:0001339 Lissencephaly OMIM:616342 CDK5 1020 HP:0001284 Areflexia OMIM:616342 CDK5 1020 HP:0001263 Global developmental delay OMIM:616342 CDK5 1020 HP:0000470 Short neck OMIM:616342 CDK5 1020 HP:0001274 Agenesis of corpus callosum OMIM:616342 CDK5 1020 HP:0000293 Full cheeks OMIM:616342 CDK5 1020 HP:0001004 Lymphedema OMIM:616342 CDK5 1020 HP:0001321 Cerebellar hypoplasia OMIM:616342 CDK5 1020 HP:0001007 Hirsutism OMIM:616342 CDK5 1020 HP:0000347 Micrognathia OMIM:616342 CDK5 1020 HP:0001188 Hand clenching OMIM:605115 NR3C2 4306 HP:0008071 Maternal hypertension OMIM:605115 NR3C2 4306 HP:0000822 Hypertension OMIM:605115 NR3C2 4306 HP:0000006 Autosomal dominant inheritance OMIM:605115 NR3C2 4306 HP:0003351 Decreased circulating renin level OMIM:605115 NR3C2 4306 HP:0002924 Decreased circulating aldosterone level OMIM:101600 FGFR1 2260 HP:0002780 Bronchomalacia OMIM:101600 FGFR1 2260 HP:0002308 Arnold-Chiari malformation OMIM:101600 FGFR1 2260 HP:0009773 Symphalangism affecting the phalanges of the hand OMIM:101600 FGFR1 2260 HP:0000348 High forehead OMIM:101600 FGFR1 2260 HP:0000327 Hypoplasia of the maxilla OMIM:101600 FGFR1 2260 HP:0003307 Hyperlordosis OMIM:101600 FGFR1 2260 HP:0003196 Short nose OMIM:101600 FGFR1 2260 HP:0000006 Autosomal dominant inheritance OMIM:101600 FGFR1 2260 HP:0000494 Downslanted palpebral fissures OMIM:101600 FGFR1 2260 HP:0009602 Abnormality of thumb phalanx OMIM:101600 FGFR1 2260 HP:0000316 Hypertelorism OMIM:101600 FGFR1 2260 HP:0011304 Broad thumb OMIM:101600 FGFR1 2260 HP:0010055 Broad hallux OMIM:101600 FGFR1 2260 HP:0010669 Cheekbone underdevelopment OMIM:101600 FGFR1 2260 HP:0005347 Cartilaginous trachea OMIM:101600 FGFR1 2260 HP:0000272 Malar flattening OMIM:101600 FGFR1 2260 HP:0004440 Coronal craniosynostosis OMIM:101600 FGFR1 2260 HP:0000218 High palate OMIM:101600 FGFR1 2260 HP:0000431 Wide nasal bridge OMIM:101600 FGFR1 2260 HP:0001156 Brachydactyly syndrome OMIM:101600 FGFR1 2260 HP:0000470 Short neck OMIM:101600 FGFR1 2260 HP:0000486 Strabismus OMIM:101600 FGFR1 2260 HP:0002676 Cloverleaf skull OMIM:101600 FGFR1 2260 HP:0006110 Shortening of all middle phalanges of the fingers OMIM:101600 FGFR1 2260 HP:0003795 Short middle phalanx of toe OMIM:101600 FGFR1 2260 HP:0000244 Brachyturricephaly OMIM:101600 FGFR1 2260 HP:0003070 Elbow ankylosis OMIM:101600 FGFR1 2260 HP:0000452 Choanal stenosis OMIM:101600 FGFR1 2260 HP:0000194 Open mouth OMIM:101600 FGFR1 2260 HP:0005280 Depressed nasal bridge OMIM:101600 FGFR1 2260 HP:0000508 Ptosis OMIM:101600 FGFR1 2260 HP:0000678 Dental crowding OMIM:101600 FGFR1 2260 HP:0006101 Finger syndactyly OMIM:101600 FGFR1 2260 HP:0000453 Choanal atresia OMIM:101600 FGFR1 2260 HP:0000303 Mandibular prognathia OMIM:101600 FGFR1 2260 HP:0003272 Abnormality of the hip bone OMIM:101600 FGFR1 2260 HP:0000324 Facial asymmetry OMIM:101600 FGFR1 2260 HP:0004322 Short stature OMIM:101600 FGFR1 2260 HP:0003041 Humeroradial synostosis OMIM:101600 FGFR1 2260 HP:0000238 Hydrocephalus OMIM:101600 FGFR1 2260 HP:0000322 Short philtrum OMIM:101600 FGFR1 2260 HP:0000174 Abnormality of the palate OMIM:101600 FGFR1 2260 HP:0001249 Intellectual disability OMIM:101600 FGFR1 2260 HP:0000586 Shallow orbits OMIM:101600 FGFR1 2260 HP:0005048 Synostosis of carpal bones OMIM:101600 FGFR1 2260 HP:0004209 Clinodactyly of the 5th finger OMIM:101600 FGFR2 2263 HP:0002780 Bronchomalacia OMIM:101600 FGFR2 2263 HP:0002308 Arnold-Chiari malformation OMIM:101600 FGFR2 2263 HP:0009773 Symphalangism affecting the phalanges of the hand OMIM:101600 FGFR2 2263 HP:0000348 High forehead OMIM:101600 FGFR2 2263 HP:0000327 Hypoplasia of the maxilla OMIM:101600 FGFR2 2263 HP:0003307 Hyperlordosis OMIM:101600 FGFR2 2263 HP:0003196 Short nose OMIM:101600 FGFR2 2263 HP:0000006 Autosomal dominant inheritance OMIM:101600 FGFR2 2263 HP:0000494 Downslanted palpebral fissures OMIM:101600 FGFR2 2263 HP:0009602 Abnormality of thumb phalanx OMIM:101600 FGFR2 2263 HP:0000316 Hypertelorism OMIM:101600 FGFR2 2263 HP:0011304 Broad thumb OMIM:101600 FGFR2 2263 HP:0010055 Broad hallux OMIM:101600 FGFR2 2263 HP:0010669 Cheekbone underdevelopment OMIM:101600 FGFR2 2263 HP:0005347 Cartilaginous trachea OMIM:101600 FGFR2 2263 HP:0000272 Malar flattening OMIM:101600 FGFR2 2263 HP:0004440 Coronal craniosynostosis OMIM:101600 FGFR2 2263 HP:0000218 High palate OMIM:101600 FGFR2 2263 HP:0000431 Wide nasal bridge OMIM:101600 FGFR2 2263 HP:0001156 Brachydactyly syndrome OMIM:101600 FGFR2 2263 HP:0000470 Short neck OMIM:101600 FGFR2 2263 HP:0000486 Strabismus OMIM:101600 FGFR2 2263 HP:0002676 Cloverleaf skull OMIM:101600 FGFR2 2263 HP:0006110 Shortening of all middle phalanges of the fingers OMIM:101600 FGFR2 2263 HP:0003795 Short middle phalanx of toe OMIM:101600 FGFR2 2263 HP:0000244 Brachyturricephaly OMIM:101600 FGFR2 2263 HP:0003070 Elbow ankylosis OMIM:101600 FGFR2 2263 HP:0000452 Choanal stenosis OMIM:101600 FGFR2 2263 HP:0000194 Open mouth OMIM:101600 FGFR2 2263 HP:0005280 Depressed nasal bridge OMIM:101600 FGFR2 2263 HP:0000508 Ptosis OMIM:101600 FGFR2 2263 HP:0000678 Dental crowding OMIM:101600 FGFR2 2263 HP:0006101 Finger syndactyly OMIM:101600 FGFR2 2263 HP:0000453 Choanal atresia OMIM:101600 FGFR2 2263 HP:0000303 Mandibular prognathia OMIM:101600 FGFR2 2263 HP:0003272 Abnormality of the hip bone OMIM:101600 FGFR2 2263 HP:0000324 Facial asymmetry OMIM:101600 FGFR2 2263 HP:0004322 Short stature OMIM:101600 FGFR2 2263 HP:0003041 Humeroradial synostosis OMIM:101600 FGFR2 2263 HP:0000238 Hydrocephalus OMIM:101600 FGFR2 2263 HP:0000322 Short philtrum OMIM:101600 FGFR2 2263 HP:0000174 Abnormality of the palate OMIM:101600 FGFR2 2263 HP:0001249 Intellectual disability OMIM:101600 FGFR2 2263 HP:0000586 Shallow orbits OMIM:101600 FGFR2 2263 HP:0005048 Synostosis of carpal bones OMIM:101600 FGFR2 2263 HP:0004209 Clinodactyly of the 5th finger OMIM:614134 COL9A1 1297 HP:0007964 Degenerative vitreoretinopathy OMIM:614134 COL9A1 1297 HP:0005041 Irregular capital femoral epiphysis OMIM:614134 COL9A1 1297 HP:0000407 Sensorineural hearing impairment OMIM:614134 COL9A1 1297 HP:0000483 Astigmatism OMIM:614134 COL9A1 1297 HP:0002656 Epiphyseal dysplasia OMIM:614134 COL9A1 1297 HP:0000007 Autosomal recessive inheritance OMIM:614134 COL9A1 1297 HP:0004322 Short stature OMIM:614134 COL9A1 1297 HP:0011003 Severe Myopia OMIM:614134 COL9A1 1297 HP:0003370 Flat capital femoral epiphysis OMIM:614134 COL9A1 1297 HP:0012368 Flat face OMIM:614134 COL9A1 1297 HP:0002857 Genu valgum OMIM:271640 B3GALT6 126792 HP:0004325 Decreased body weight OMIM:271640 B3GALT6 126792 HP:0000300 Oval face OMIM:271640 B3GALT6 126792 HP:0001030 Fragile skin OMIM:271640 B3GALT6 126792 HP:0000592 Blue sclerae OMIM:271640 B3GALT6 126792 HP:0002673 Coxa valga OMIM:271640 B3GALT6 126792 HP:0008818 Large iliac wings OMIM:271640 B3GALT6 126792 HP:0002983 Micromelia OMIM:271640 B3GALT6 126792 HP:0000218 High palate OMIM:271640 B3GALT6 126792 HP:0008012 Congenital myopia OMIM:271640 B3GALT6 126792 HP:0100864 Short femoral neck OMIM:271640 B3GALT6 126792 HP:0001371 Flexion contracture OMIM:271640 B3GALT6 126792 HP:0001388 Joint laxity OMIM:271640 B3GALT6 126792 HP:0003015 Flared metaphysis OMIM:271640 B3GALT6 126792 HP:0000974 Hyperextensible skin OMIM:271640 B3GALT6 126792 HP:0000520 Proptosis OMIM:271640 B3GALT6 126792 HP:0100777 Exostoses OMIM:271640 B3GALT6 126792 HP:0003083 Dislocated radial head OMIM:271640 B3GALT6 126792 HP:0001822 Hallux valgus OMIM:271640 B3GALT6 126792 HP:0008828 Delayed proximal femoral epiphyseal ossification OMIM:271640 B3GALT6 126792 HP:0000878 11 pairs of ribs OMIM:271640 B3GALT6 126792 HP:0001083 Ectopia lentis OMIM:271640 B3GALT6 126792 HP:0001631 Defect in the atrial septum OMIM:271640 B3GALT6 126792 HP:0003100 Slender long bone OMIM:271640 B3GALT6 126792 HP:0000007 Autosomal recessive inheritance OMIM:271640 B3GALT6 126792 HP:0008824 Hypoplastic iliac body OMIM:271640 B3GALT6 126792 HP:0001762 Talipes equinovarus OMIM:271640 B3GALT6 126792 HP:0001252 Muscular hypotonia OMIM:271640 B3GALT6 126792 HP:0001382 Joint hypermobility OMIM:271640 B3GALT6 126792 HP:0002869 Flared iliac wings OMIM:271640 B3GALT6 126792 HP:0002986 Radial bowing OMIM:271640 B3GALT6 126792 HP:0003042 Elbow dislocation OMIM:271640 B3GALT6 126792 HP:0000926 Platyspondyly OMIM:271640 B3GALT6 126792 HP:0003026 Short long bone OMIM:271640 B3GALT6 126792 HP:0001671 Abnormality of the cardiac septa OMIM:271640 B3GALT6 126792 HP:0002808 Kyphosis OMIM:271640 B3GALT6 126792 HP:0010550 Paraplegia OMIM:271640 B3GALT6 126792 HP:0003301 Irregular vertebral endplates OMIM:271640 B3GALT6 126792 HP:0000343 Long philtrum OMIM:271640 B3GALT6 126792 HP:0003510 Severe short stature OMIM:271640 B3GALT6 126792 HP:0011341 Long upper lip OMIM:271640 B3GALT6 126792 HP:0002827 Hip dislocation OMIM:271640 B3GALT6 126792 HP:0001840 Metatarsus adductus OMIM:271640 B3GALT6 126792 HP:0000944 Abnormality of the metaphyses OMIM:271640 B3GALT6 126792 HP:0004233 Advanced ossification of carpal bones OMIM:271640 B3GALT6 126792 HP:0002650 Scoliosis OMIM:271640 B3GALT6 126792 HP:0000470 Short neck OMIM:271640 B3GALT6 126792 HP:0004322 Short stature OMIM:271640 B3GALT6 126792 HP:0009836 Broad distal phalanx of finger OMIM:271640 B3GALT6 126792 HP:0001653 Mitral regurgitation OMIM:271640 B3GALT6 126792 HP:0000887 Cupped ribs OMIM:271640 B3GALT6 126792 HP:0002756 Pathologic fracture OMIM:271640 B3GALT6 126792 HP:0002751 Kyphoscoliosis OMIM:271640 B3GALT6 126792 HP:0000272 Malar flattening OMIM:271640 B3GALT6 126792 HP:0002651 Spondyloepimetaphyseal dysplasia OMIM:271640 B3GALT6 126792 HP:0001647 Bicuspid aortic valve OMIM:271640 B3GALT6 126792 HP:0012368 Flat face OMIM:271640 B3GALT6 126792 HP:0000175 Cleft palate OMIM:271640 B3GALT6 126792 HP:0030043 Hip Subluxation OMIM:271640 B3GALT6 126792 HP:0001831 Short toe OMIM:271640 B3GALT6 126792 HP:0100543 Cognitive impairment OMIM:271640 B3GALT6 126792 HP:0001629 Ventricular septal defect OMIM:271640 B3GALT6 126792 HP:0002209 Sparse scalp hair OMIM:271640 B3GALT6 126792 HP:0000939 Osteoporosis OMIM:271640 B3GALT6 126792 HP:0001763 Pes planus OMIM:271640 B3GALT6 126792 HP:0001027 Soft, doughy skin OMIM:271640 B3GALT6 126792 HP:0001883 Talipes OMIM:271640 B3GALT6 126792 HP:0000545 Myopia OMIM:271640 B3GALT6 126792 HP:0000347 Micrognathia OMIM:271640 B3GALT6 126792 HP:0002176 Spinal cord compression OMIM:271640 B3GALT6 126792 HP:0002857 Genu valgum OMIM:271640 B3GALT6 126792 HP:0002251 Aganglionic megacolon OMIM:271640 B3GALT6 126792 HP:0100569 Abnormal vertebral ossification OMIM:271640 B3GALT6 126792 HP:0000904 Flaring of rib cage OMIM:271640 B3GALT6 126792 HP:0003307 Hyperlordosis OMIM:271640 B3GALT6 126792 HP:0003300 Ovoid vertebral bodies OMIM:271640 B3GALT6 126792 HP:0010049 Short metacarpal OMIM:271640 B3GALT6 126792 HP:0003048 Radial head subluxation OMIM:271640 B3GALT6 126792 HP:0011220 Prominent forehead OMIM:271640 B3GALT6 126792 HP:0009702 Carpal synostosis OMIM:271640 B3GALT6 126792 HP:0001156 Brachydactyly syndrome OMIM:271640 B3GALT6 126792 HP:0001799 Short nail OMIM:271640 B3GALT6 126792 HP:0004348 Abnormality of bone mineral density OMIM:262400 GH1 2688 HP:0003510 Severe short stature OMIM:262400 GH1 2688 HP:0001943 Hypoglycemia OMIM:262400 GH1 2688 HP:0000271 Abnormality of the face OMIM:262400 GH1 2688 HP:0000007 Autosomal recessive inheritance OMIM:262400 GH1 2688 HP:0002715 Abnormality of the immune system OMIM:262400 GH1 2688 HP:0000839 Pituitary dwarfism OMIM:610048 DCN 1634 HP:0008005 Congenital corneal dystrophy OMIM:610048 DCN 1634 HP:0011487 Increased corneal thickness OMIM:610048 DCN 1634 HP:0000529 Progressive visual loss OMIM:610048 DCN 1634 HP:0000501 Glaucoma OMIM:610048 DCN 1634 HP:0000486 Strabismus OMIM:610048 DCN 1634 HP:0000006 Autosomal dominant inheritance OMIM:122470 NIPBL 25836 HP:0000527 Long eyelashes OMIM:122470 NIPBL 25836 HP:0004322 Short stature OMIM:122470 NIPBL 25836 HP:0000023 Inguinal hernia OMIM:122470 NIPBL 25836 HP:0000047 Hypospadias OMIM:122470 NIPBL 25836 HP:0002984 Hypoplasia of the radius OMIM:122470 NIPBL 25836 HP:0000175 Cleft palate OMIM:122470 NIPBL 25836 HP:0009623 Proximal placement of thumb OMIM:122470 NIPBL 25836 HP:0000639 Nystagmus OMIM:122470 NIPBL 25836 HP:0000508 Ptosis OMIM:122470 NIPBL 25836 HP:0000252 Microcephaly OMIM:122470 NIPBL 25836 HP:0001377 Limited elbow extension OMIM:122470 NIPBL 25836 HP:0002021 Pyloric stenosis OMIM:122470 NIPBL 25836 HP:0000219 Thin upper lip vermilion OMIM:122470 NIPBL 25836 HP:0004209 Clinodactyly of the 5th finger OMIM:122470 NIPBL 25836 HP:0000347 Micrognathia OMIM:122470 NIPBL 25836 HP:0000089 Renal hypoplasia OMIM:122470 NIPBL 25836 HP:0000369 Low-set ears OMIM:122470 NIPBL 25836 HP:0000453 Choanal atresia OMIM:122470 NIPBL 25836 HP:0000059 Hypoplastic labia majora OMIM:122470 NIPBL 25836 HP:0001873 Thrombocytopenia OMIM:122470 NIPBL 25836 HP:0001551 Abnormality of the umbilicus OMIM:122470 NIPBL 25836 HP:0000218 High palate OMIM:122470 NIPBL 25836 HP:0100716 Self-injurious behavior OMIM:122470 NIPBL 25836 HP:0002020 Gastroesophageal reflux OMIM:122470 NIPBL 25836 HP:0000750 Delayed speech and language development OMIM:122470 NIPBL 25836 HP:0000482 Microcornea OMIM:122470 NIPBL 25836 HP:0001612 Weak cry OMIM:122470 NIPBL 25836 HP:0003997 Hypoplastic radial head OMIM:122470 NIPBL 25836 HP:0002090 Pneumonia OMIM:122470 NIPBL 25836 HP:0000086 Ectopic kidney OMIM:122470 NIPBL 25836 HP:0000248 Brachycephaly OMIM:122470 NIPBL 25836 HP:0000965 Cutis marmorata OMIM:122470 NIPBL 25836 HP:0003812 Phenotypic variability OMIM:122470 NIPBL 25836 HP:0001249 Intellectual disability OMIM:122470 NIPBL 25836 HP:0000343 Long philtrum OMIM:122470 NIPBL 25836 HP:0000093 Proteinuria OMIM:122470 NIPBL 25836 HP:0004691 2-3 toe syndactyly OMIM:122470 NIPBL 25836 HP:0001276 Hypertonia OMIM:122470 NIPBL 25836 HP:0000879 Short sternum OMIM:122470 NIPBL 25836 HP:0000407 Sensorineural hearing impairment OMIM:122470 NIPBL 25836 HP:0000486 Strabismus OMIM:122470 NIPBL 25836 HP:0000028 Cryptorchidism OMIM:122470 NIPBL 25836 HP:0002714 Downturned corners of mouth OMIM:122470 NIPBL 25836 HP:0000076 Vesicoureteral reflux OMIM:122470 NIPBL 25836 HP:0000588 Optic nerve coloboma OMIM:122470 NIPBL 25836 HP:0009829 Phocomelia OMIM:122470 NIPBL 25836 HP:0005217 Duplication of internal organs OMIM:122470 NIPBL 25836 HP:0004785 Malrotation of colon OMIM:122470 NIPBL 25836 HP:0003083 Dislocated radial head OMIM:122470 NIPBL 25836 HP:0000483 Astigmatism OMIM:122470 NIPBL 25836 HP:0000545 Myopia OMIM:122470 NIPBL 25836 HP:0000648 Optic atrophy OMIM:122470 NIPBL 25836 HP:0000006 Autosomal dominant inheritance OMIM:122470 NIPBL 25836 HP:0001180 Oligodactyly (hands) OMIM:122470 NIPBL 25836 HP:0000708 Behavioral abnormality OMIM:122470 NIPBL 25836 HP:0000107 Renal cyst OMIM:122470 NIPBL 25836 HP:0001511 Intrauterine growth retardation OMIM:122470 NIPBL 25836 HP:0000050 Hypoplastic male external genitalia OMIM:122470 NIPBL 25836 HP:0002983 Micromelia OMIM:122470 NIPBL 25836 HP:0001007 Hirsutism OMIM:122470 NIPBL 25836 HP:0000684 Delayed eruption of teeth OMIM:122470 NIPBL 25836 HP:0000470 Short neck OMIM:122470 NIPBL 25836 HP:0001250 Seizures OMIM:122470 NIPBL 25836 HP:0007665 Curly eyelashes OMIM:122470 NIPBL 25836 HP:0002987 Elbow flexion contracture OMIM:122470 NIPBL 25836 HP:0002750 Delayed skeletal maturation OMIM:122470 NIPBL 25836 HP:0005565 Reduced renal corticomedullary differentiation OMIM:122470 NIPBL 25836 HP:0002553 Highly arched eyebrow OMIM:122470 NIPBL 25836 HP:0000687 Widely spaced teeth OMIM:122470 NIPBL 25836 HP:0005280 Depressed nasal bridge OMIM:122470 NIPBL 25836 HP:0002162 Low posterior hairline OMIM:122470 NIPBL 25836 HP:0000954 Single transverse palmar crease OMIM:122470 NIPBL 25836 HP:0002557 Hypoplastic nipples OMIM:122470 NIPBL 25836 HP:0000520 Proptosis OMIM:122470 NIPBL 25836 HP:0005815 Supernumerary ribs OMIM:122470 NIPBL 25836 HP:0003745 Sporadic OMIM:122470 NIPBL 25836 HP:0002036 Hiatus hernia OMIM:122470 NIPBL 25836 HP:0000405 Conductive hearing impairment OMIM:122470 NIPBL 25836 HP:0000204 Cleft upper lip OMIM:122470 NIPBL 25836 HP:0000664 Synophrys OMIM:122470 NIPBL 25836 HP:0001629 Ventricular septal defect OMIM:122470 NIPBL 25836 HP:0000463 Anteverted nares OMIM:122470 NIPBL 25836 HP:0000776 Congenital diaphragmatic hernia OMIM:615744 GABRA1 2554 HP:0002121 Absence seizures OMIM:615744 GABRA1 2554 HP:0001249 Intellectual disability OMIM:615744 GABRA1 2554 HP:0200134 Epileptic encephalopathy OMIM:615744 GABRA1 2554 HP:0001263 Global developmental delay OMIM:615744 GABRA1 2554 HP:0006813 Hemiclonic seizures OMIM:615744 GABRA1 2554 HP:0002133 Status epilepticus OMIM:615744 GABRA1 2554 HP:0010819 Atonic seizures OMIM:615744 GABRA1 2554 HP:0002373 Febrile seizures ORPHANET:158676 COL7A1 1294 HP:0008388 Abnormality of the toenails ORPHANET:158676 COL7A1 1294 HP:0008066 Abnormal blistering of the skin OMIM:602482 FOXC1 2296 HP:0000272 Malar flattening OMIM:602482 FOXC1 2296 HP:0000668 Hypodontia OMIM:602482 FOXC1 2296 HP:0009918 Ectopia pupillae OMIM:602482 FOXC1 2296 HP:0001631 Defect in the atrial septum OMIM:602482 FOXC1 2296 HP:0011120 Concave nasal ridge OMIM:602482 FOXC1 2296 HP:0000407 Sensorineural hearing impairment OMIM:602482 FOXC1 2296 HP:0000627 Posterior embryotoxon OMIM:602482 FOXC1 2296 HP:0001320 Cerebellar vermis hypoplasia OMIM:602482 FOXC1 2296 HP:0000520 Proptosis OMIM:602482 FOXC1 2296 HP:0001643 Patent ductus arteriosus OMIM:602482 FOXC1 2296 HP:0000501 Glaucoma OMIM:602482 FOXC1 2296 HP:0001425 Heterogeneous OMIM:602482 FOXC1 2296 HP:0007676 Hypoplasia of the iris OMIM:602482 FOXC1 2296 HP:0000006 Autosomal dominant inheritance OMIM:602482 FOXC1 2296 HP:0000691 Microdontia OMIM:602482 FOXC1 2296 HP:0000316 Hypertelorism OMIM:225100 ADAMTSL4 54507 HP:0001083 Ectopia lentis OMIM:225100 ADAMTSL4 54507 HP:0000007 Autosomal recessive inheritance OMIM:613876 NEXN 91624 HP:0005110 Atrial fibrillation OMIM:613876 NEXN 91624 HP:0001712 Left ventricular hypertrophy OMIM:613876 NEXN 91624 HP:0000006 Autosomal dominant inheritance OMIM:613876 NEXN 91624 HP:0001638 Cardiomyopathy OMIM:180700 WNT5A 7474 HP:0000218 High palate OMIM:180700 WNT5A 7474 HP:0000527 Long eyelashes OMIM:180700 WNT5A 7474 HP:0001705 Right ventricular outlet obstruction OMIM:180700 WNT5A 7474 HP:0008905 Rhizomelia OMIM:180700 WNT5A 7474 HP:0000463 Anteverted nares OMIM:180700 WNT5A 7474 HP:0200055 Small hand OMIM:180700 WNT5A 7474 HP:0001853 Bifid distal phalanx of toe OMIM:180700 WNT5A 7474 HP:0005280 Depressed nasal bridge OMIM:180700 WNT5A 7474 HP:0000054 Micropenis OMIM:180700 WNT5A 7474 HP:0030084 Clinodactyly OMIM:180700 WNT5A 7474 HP:0000060 Clitoral hypoplasia OMIM:180700 WNT5A 7474 HP:0009466 Radial deviation of finger OMIM:180700 WNT5A 7474 HP:0003027 Mesomelia OMIM:180700 WNT5A 7474 HP:0000126 Hydronephrosis OMIM:180700 WNT5A 7474 HP:0000470 Short neck OMIM:180700 WNT5A 7474 HP:0011304 Broad thumb OMIM:180700 WNT5A 7474 HP:0000189 Narrow palate OMIM:180700 WNT5A 7474 HP:0000260 Wide anterior fontanel OMIM:180700 WNT5A 7474 HP:0000158 Macroglossia OMIM:180700 WNT5A 7474 HP:0012368 Flat face OMIM:180700 WNT5A 7474 HP:0000207 Triangular mouth OMIM:180700 WNT5A 7474 HP:0000316 Hypertelorism OMIM:180700 WNT5A 7474 HP:0002164 Nail dysplasia OMIM:180700 WNT5A 7474 HP:0000075 Renal duplication OMIM:180700 WNT5A 7474 HP:0011800 Midface retrusion OMIM:180700 WNT5A 7474 HP:0000059 Hypoplastic labia majora OMIM:180700 WNT5A 7474 HP:0001156 Brachydactyly syndrome OMIM:180700 WNT5A 7474 HP:0001249 Intellectual disability OMIM:180700 WNT5A 7474 HP:0000767 Pectus excavatum OMIM:180700 WNT5A 7474 HP:0001537 Umbilical hernia OMIM:180700 WNT5A 7474 HP:0004279 Short palm OMIM:180700 WNT5A 7474 HP:0000028 Cryptorchidism OMIM:180700 WNT5A 7474 HP:0001052 Nevus flammeus OMIM:180700 WNT5A 7474 HP:0002714 Downturned corners of mouth OMIM:180700 WNT5A 7474 HP:0000343 Long philtrum OMIM:180700 WNT5A 7474 HP:0000358 Posteriorly rotated ears OMIM:180700 WNT5A 7474 HP:0000678 Dental crowding OMIM:180700 WNT5A 7474 HP:0001837 Broad toe OMIM:180700 WNT5A 7474 HP:0000494 Downslanted palpebral fissures OMIM:180700 WNT5A 7474 HP:0000431 Wide nasal bridge OMIM:180700 WNT5A 7474 HP:0000278 Retrognathia OMIM:180700 WNT5A 7474 HP:0000582 Upslanted palpebral fissure OMIM:180700 WNT5A 7474 HP:0000219 Thin upper lip vermilion OMIM:180700 WNT5A 7474 HP:0000023 Inguinal hernia OMIM:180700 WNT5A 7474 HP:0004322 Short stature OMIM:180700 WNT5A 7474 HP:0000637 Long palpebral fissure OMIM:180700 WNT5A 7474 HP:0010290 Short hard palate OMIM:180700 WNT5A 7474 HP:0001263 Global developmental delay OMIM:180700 WNT5A 7474 HP:0000286 Epicanthus OMIM:180700 WNT5A 7474 HP:0000202 Oral cleft OMIM:180700 WNT5A 7474 HP:0003196 Short nose OMIM:180700 WNT5A 7474 HP:0010297 Bifid tongue OMIM:180700 WNT5A 7474 HP:0002007 Frontal bossing OMIM:180700 WNT5A 7474 HP:0004220 Short middle phalanx of the 5th finger OMIM:180700 WNT5A 7474 HP:0000256 Macrocephaly OMIM:180700 WNT5A 7474 HP:0009883 Duplication of the distal phalanx of hand OMIM:180700 WNT5A 7474 HP:0000006 Autosomal dominant inheritance OMIM:180700 WNT5A 7474 HP:0002750 Delayed skeletal maturation OMIM:180700 WNT5A 7474 HP:0000369 Low-set ears OMIM:180700 WNT5A 7474 HP:0000684 Delayed eruption of teeth OMIM:180700 WNT5A 7474 HP:0000272 Malar flattening OMIM:180700 WNT5A 7474 HP:0000212 Gingival overgrowth OMIM:180700 WNT5A 7474 HP:0000520 Proptosis OMIM:180700 WNT5A 7474 HP:0000347 Micrognathia OMIM:613804 CDT1 81620 HP:0000369 Low-set ears OMIM:613804 CDT1 81620 HP:0000895 Lateral clavicle hook OMIM:613804 CDT1 81620 HP:0002816 Genu recurvatum OMIM:613804 CDT1 81620 HP:0003561 Birth length less than 3rd percentile OMIM:613804 CDT1 81620 HP:0003187 Breast hypoplasia OMIM:613804 CDT1 81620 HP:0002097 Emphysema OMIM:613804 CDT1 81620 HP:0003100 Slender long bone OMIM:613804 CDT1 81620 HP:0000007 Autosomal recessive inheritance OMIM:613804 CDT1 81620 HP:0000252 Microcephaly OMIM:613804 CDT1 81620 HP:0000160 Narrow mouth OMIM:613804 CDT1 81620 HP:0006443 Patellar aplasia OMIM:613804 CDT1 81620 HP:0011968 Feeding difficulties OMIM:613804 CDT1 81620 HP:0008551 Microtia OMIM:613804 CDT1 81620 HP:0001508 Failure to thrive OMIM:613804 CDT1 81620 HP:0000327 Hypoplasia of the maxilla OMIM:613804 CDT1 81620 HP:0000028 Cryptorchidism OMIM:613804 CDT1 81620 HP:0000179 Thick lower lip vermilion OMIM:613804 CDT1 81620 HP:0002750 Delayed skeletal maturation OMIM:613804 CDT1 81620 HP:0000347 Micrognathia OMIM:613804 CDT1 81620 HP:0001511 Intrauterine growth retardation OMIM:608233 AP3B1 8546 HP:0000431 Wide nasal bridge OMIM:608233 AP3B1 8546 HP:0002718 Recurrent bacterial infections OMIM:608233 AP3B1 8546 HP:0007384 Aberrant melanosome maturation OMIM:608233 AP3B1 8546 HP:0000704 Periodontitis OMIM:608233 AP3B1 8546 HP:0001873 Thrombocytopenia OMIM:608233 AP3B1 8546 HP:0000582 Upslanted palpebral fissure OMIM:608233 AP3B1 8546 HP:0000252 Microcephaly OMIM:608233 AP3B1 8546 HP:0000319 Smooth philtrum OMIM:608233 AP3B1 8546 HP:0001256 Intellectual disability, mild OMIM:608233 AP3B1 8546 HP:0002240 Hepatomegaly OMIM:608233 AP3B1 8546 HP:0001385 Hip dysplasia OMIM:608233 AP3B1 8546 HP:0003577 Congenital onset OMIM:608233 AP3B1 8546 HP:0000219 Thin upper lip vermilion OMIM:608233 AP3B1 8546 HP:0000639 Nystagmus OMIM:608233 AP3B1 8546 HP:0000486 Strabismus OMIM:608233 AP3B1 8546 HP:0002286 Fair hair OMIM:608233 AP3B1 8546 HP:0001270 Motor delay OMIM:608233 AP3B1 8546 HP:0000280 Coarse facial features OMIM:608233 AP3B1 8546 HP:0001022 Albinism OMIM:608233 AP3B1 8546 HP:0002206 Pulmonary fibrosis OMIM:608233 AP3B1 8546 HP:0001107 Ocular albinism OMIM:608233 AP3B1 8546 HP:0000343 Long philtrum OMIM:608233 AP3B1 8546 HP:0000369 Low-set ears OMIM:608233 AP3B1 8546 HP:0000358 Posteriorly rotated ears OMIM:608233 AP3B1 8546 HP:0000505 Visual impairment OMIM:608233 AP3B1 8546 HP:0000670 Carious teeth OMIM:608233 AP3B1 8546 HP:0001875 Neutropenia OMIM:608233 AP3B1 8546 HP:0000613 Photophobia OMIM:608233 AP3B1 8546 HP:0000007 Autosomal recessive inheritance OMIM:608233 AP3B1 8546 HP:0001744 Splenomegaly OMIM:608233 AP3B1 8546 HP:0008807 Acetabular dysplasia OMIM:615400 CNTN2 6900 HP:0001250 Seizures OMIM:615400 CNTN2 6900 HP:0000007 Autosomal recessive inheritance OMIM:251260 NBN 4683 HP:0002093 Respiratory insufficiency OMIM:251260 NBN 4683 HP:0007018 Attention deficit hyperactivity disorder OMIM:251260 NBN 4683 HP:0002837 Recurrent bronchitis OMIM:251260 NBN 4683 HP:0000752 Hyperactivity OMIM:251260 NBN 4683 HP:0009733 Glioma OMIM:251260 NBN 4683 HP:0002024 Malabsorption OMIM:251260 NBN 4683 HP:0002025 Anal stenosis OMIM:251260 NBN 4683 HP:0002110 Bronchiectasis OMIM:251260 NBN 4683 HP:0000246 Sinusitis OMIM:251260 NBN 4683 HP:0003202 Skeletal muscle atrophy OMIM:251260 NBN 4683 HP:0003189 Long nose OMIM:251260 NBN 4683 HP:0002665 Lymphoma OMIM:251260 NBN 4683 HP:0000010 Recurrent urinary tract infections OMIM:251260 NBN 4683 HP:0000252 Microcephaly OMIM:251260 NBN 4683 HP:0000582 Upslanted palpebral fissure OMIM:251260 NBN 4683 HP:0000204 Cleft upper lip OMIM:251260 NBN 4683 HP:0000388 Otitis media OMIM:251260 NBN 4683 HP:0000007 Autosomal recessive inheritance OMIM:251260 NBN 4683 HP:0010620 Malar prominence OMIM:251260 NBN 4683 HP:0001511 Intrauterine growth retardation OMIM:251260 NBN 4683 HP:0003220 Abnormality of chromosome stability OMIM:251260 NBN 4683 HP:0010976 B lymphocytopenia OMIM:251260 NBN 4683 HP:0005602 Progressive vitiligo OMIM:251260 NBN 4683 HP:0004322 Short stature OMIM:251260 NBN 4683 HP:0010701 Abnormal immunoglobulin level OMIM:251260 NBN 4683 HP:0002885 Medulloblastoma OMIM:251260 NBN 4683 HP:0001873 Thrombocytopenia OMIM:251260 NBN 4683 HP:0000992 Cutaneous photosensitivity OMIM:251260 NBN 4683 HP:0011362 Abnormal hair quantity OMIM:251260 NBN 4683 HP:0000175 Cleft palate OMIM:251260 NBN 4683 HP:0002023 Anal atresia OMIM:251260 NBN 4683 HP:0000265 Mastoiditis OMIM:251260 NBN 4683 HP:0000470 Short neck OMIM:251260 NBN 4683 HP:0002961 Dysgammaglobulinemia OMIM:251260 NBN 4683 HP:0000347 Micrognathia OMIM:251260 NBN 4683 HP:0010935 Abnormality of the upper urinary tract OMIM:251260 NBN 4683 HP:0002180 Neurodegeneration OMIM:251260 NBN 4683 HP:0005105 Abnormal nasal morphology OMIM:251260 NBN 4683 HP:0000957 Cafe-au-lait spot OMIM:251260 NBN 4683 HP:0000340 Sloping forehead OMIM:251260 NBN 4683 HP:0001249 Intellectual disability OMIM:251260 NBN 4683 HP:0001878 Hemolytic anemia OMIM:251260 NBN 4683 HP:0004798 Recurrent infection of the gastrointestinal tract OMIM:251260 NBN 4683 HP:0002014 Diarrhea OMIM:251260 NBN 4683 HP:0010515 Aplasia/Hypoplasia of the thymus OMIM:251260 NBN 4683 HP:0006532 Recurrent pneumonia OMIM:251260 NBN 4683 HP:0002205 Recurrent respiratory infections OMIM:251260 NBN 4683 HP:0100589 Urogenital fistula OMIM:251260 NBN 4683 HP:0005403 T lymphocytopenia OMIM:251260 NBN 4683 HP:0001324 Muscle weakness OMIM:251260 NBN 4683 HP:0000453 Choanal atresia OMIM:251260 NBN 4683 HP:0002269 Abnormality of neuronal migration OMIM:251260 NBN 4683 HP:0100335 Non-midline cleft lip OMIM:251260 NBN 4683 HP:0000364 Hearing abnormality OMIM:251260 NBN 4683 HP:0001480 Freckling OMIM:251260 NBN 4683 HP:0000400 Macrotia OMIM:251260 NBN 4683 HP:0002002 Deep philtrum OMIM:251260 NBN 4683 HP:0000294 Low anterior hairline OMIM:251260 NBN 4683 HP:0000126 Hydronephrosis OMIM:251260 NBN 4683 HP:0100543 Cognitive impairment OMIM:251260 NBN 4683 HP:0001587 Primary ovarian failure OMIM:251260 NBN 4683 HP:0004325 Decreased body weight OMIM:251260 NBN 4683 HP:0002859 Rhabdomyosarcoma OMIM:251260 NBN 4683 HP:0005280 Depressed nasal bridge OMIM:251260 NBN 4683 HP:0000444 Convex nasal ridge OMIM:251260 NBN 4683 HP:0001890 Autoimmune hemolytic anemia OMIM:251260 NBN 4683 HP:0002488 Acute leukemia ORPHANET:2771 FKBP10 60681 HP:0000926 Platyspondyly ORPHANET:2771 FKBP10 60681 HP:0002650 Scoliosis ORPHANET:2771 FKBP10 60681 HP:0002757 Recurrent fractures ORPHANET:2771 FKBP10 60681 HP:0001376 Limitation of joint mobility ORPHANET:2771 FKBP10 60681 HP:0004322 Short stature ORPHANET:2771 FKBP10 60681 HP:0006487 Bowing of the long bones ORPHANET:2771 FKBP10 60681 HP:0002808 Kyphosis ORPHANET:2771 FKBP10 60681 HP:0004349 Reduced bone mineral density ORPHANET:2771 FKBP10 60681 HP:0002093 Respiratory insufficiency ORPHANET:2771 FKBP10 60681 HP:0000325 Triangular face ORPHANET:2771 FKBP10 60681 HP:0002804 Arthrogryposis multiplex congenita ORPHANET:2771 FKBP10 60681 HP:0001059 Pterygium ORPHANET:2771 FKBP10 60681 HP:0002645 Wormian bones ORPHANET:2771 FKBP10 60681 HP:0001883 Talipes ORPHANET:2771 PLOD2 5352 HP:0000926 Platyspondyly ORPHANET:2771 PLOD2 5352 HP:0002650 Scoliosis ORPHANET:2771 PLOD2 5352 HP:0002757 Recurrent fractures ORPHANET:2771 PLOD2 5352 HP:0001376 Limitation of joint mobility ORPHANET:2771 PLOD2 5352 HP:0004322 Short stature ORPHANET:2771 PLOD2 5352 HP:0006487 Bowing of the long bones ORPHANET:2771 PLOD2 5352 HP:0002808 Kyphosis ORPHANET:2771 PLOD2 5352 HP:0004349 Reduced bone mineral density ORPHANET:2771 PLOD2 5352 HP:0002093 Respiratory insufficiency ORPHANET:2771 PLOD2 5352 HP:0000325 Triangular face ORPHANET:2771 PLOD2 5352 HP:0002804 Arthrogryposis multiplex congenita ORPHANET:2771 PLOD2 5352 HP:0001059 Pterygium ORPHANET:2771 PLOD2 5352 HP:0002645 Wormian bones ORPHANET:2771 PLOD2 5352 HP:0001883 Talipes OMIM:605911 HMGCS2 3158 HP:0001943 Hypoglycemia OMIM:605911 HMGCS2 3158 HP:0001250 Seizures OMIM:613982 SERPINF1 5176 HP:0000007 Autosomal recessive inheritance OMIM:613982 SERPINF1 5176 HP:0004568 Beaking of vertebral bodies OMIM:613982 SERPINF1 5176 HP:0001380 Ligamentous laxity OMIM:613982 SERPINF1 5176 HP:0002812 Coxa vara OMIM:613982 SERPINF1 5176 HP:0003179 Protrusio acetabuli OMIM:613982 SERPINF1 5176 HP:0002953 Vertebral compression fractures OMIM:613982 SERPINF1 5176 HP:0002659 Increased susceptibility to fractures OMIM:613982 SERPINF1 5176 HP:0004586 Biconcave vertebral bodies OMIM:612965 NR5A1 2516 HP:0005092 Streaky metaphyseal sclerosis OMIM:612965 NR5A1 2516 HP:0012245 Sex reversal OMIM:612965 NR5A1 2516 HP:0000133 Gonadal dysgenesis OMIM:612965 NR5A1 2516 HP:0001470 Sex-limited autosomal dominant OMIM:104310 APOE 348 HP:0002185 Neurofibrillary tangles OMIM:104310 APOE 348 HP:0002423 Long-tract signs OMIM:104310 APOE 348 HP:0003584 Late onset OMIM:104310 APOE 348 HP:0002511 Alzheimer disease OMIM:104310 APOE 348 HP:0000726 Dementia OMIM:104310 APOE 348 HP:0001300 Parkinsonism OMIM:613097 LTBP3 4054 HP:0000677 Oligodontia OMIM:613097 LTBP3 4054 HP:0004322 Short stature OMIM:613097 LTBP3 4054 HP:0001592 Selective tooth agenesis OMIM:613097 LTBP3 4054 HP:0000007 Autosomal recessive inheritance OMIM:613097 LTBP3 4054 HP:0011001 Increased bone mineral density OMIM:248370 LMNA 4000 HP:0000518 Cataract OMIM:248370 LMNA 4000 HP:0000678 Dental crowding OMIM:248370 LMNA 4000 HP:0001425 Heterogeneous OMIM:248370 LMNA 4000 HP:0001596 Alopecia OMIM:248370 LMNA 4000 HP:0001252 Muscular hypotonia OMIM:248370 LMNA 4000 HP:0000833 Glucose intolerance OMIM:248370 LMNA 4000 HP:0000855 Insulin resistance OMIM:248370 LMNA 4000 HP:0000293 Full cheeks OMIM:248370 LMNA 4000 HP:0001376 Limitation of joint mobility OMIM:248370 LMNA 4000 HP:0001870 Acroosteolysis of distal phalanges (feet) OMIM:248370 LMNA 4000 HP:0000007 Autosomal recessive inheritance OMIM:248370 LMNA 4000 HP:0001387 Joint stiffness OMIM:248370 LMNA 4000 HP:0003074 Hyperglycemia OMIM:248370 LMNA 4000 HP:0003635 Loss of subcutaneous adipose tissue in limbs OMIM:248370 LMNA 4000 HP:0000685 Hypoplasia of teeth OMIM:248370 LMNA 4000 HP:0001000 Abnormality of skin pigmentation OMIM:248370 LMNA 4000 HP:0000520 Proptosis OMIM:248370 LMNA 4000 HP:0004334 Dermal atrophy OMIM:248370 LMNA 4000 HP:0008065 Aplasia/Hypoplasia of the skin OMIM:248370 LMNA 4000 HP:0000468 Increased adipose tissue around the neck OMIM:248370 LMNA 4000 HP:0002797 Osteolysis OMIM:248370 LMNA 4000 HP:0000347 Micrognathia OMIM:248370 LMNA 4000 HP:0000320 Bird-like facies OMIM:248370 LMNA 4000 HP:0009125 Lipodystrophy OMIM:248370 LMNA 4000 HP:0000174 Abnormality of the palate OMIM:248370 LMNA 4000 HP:0002645 Wormian bones OMIM:248370 LMNA 4000 HP:0001070 Mottled pigmentation OMIM:248370 LMNA 4000 HP:0000164 Abnormality of the teeth OMIM:248370 LMNA 4000 HP:0009882 Short distal phalanx of finger OMIM:248370 LMNA 4000 HP:0000218 High palate OMIM:248370 LMNA 4000 HP:0004322 Short stature OMIM:248370 LMNA 4000 HP:0100679 Lack of skin elasticity OMIM:248370 LMNA 4000 HP:0000365 Hearing impairment OMIM:248370 LMNA 4000 HP:0003077 Hyperlipidemia OMIM:248370 LMNA 4000 HP:0000418 Narrow nasal ridge OMIM:248370 LMNA 4000 HP:0003621 Juvenile onset OMIM:248370 LMNA 4000 HP:0000894 Short clavicles OMIM:248370 LMNA 4000 HP:0008897 Postnatal growth retardation OMIM:248370 LMNA 4000 HP:0000287 Increased facial adipose tissue OMIM:248370 LMNA 4000 HP:0000842 Hyperinsulinemia OMIM:248370 LMNA 4000 HP:0007495 Prematurely aged appearance OMIM:248370 LMNA 4000 HP:0003761 Calcinosis OMIM:248370 LMNA 4000 HP:0006480 Premature loss of teeth OMIM:248370 LMNA 4000 HP:0001002 Decreased subcutaneous fat OMIM:248370 LMNA 4000 HP:0000270 Delayed cranial suture closure OMIM:248370 LMNA 4000 HP:0000534 Abnormality of the eyebrow OMIM:248370 LMNA 4000 HP:0002829 Arthralgia OMIM:248370 LMNA 4000 HP:0000905 Progressive clavicular acroosteolysis OMIM:248370 LMNA 4000 HP:0000831 Insulin-resistant diabetes mellitus OMIM:248370 LMNA 4000 HP:0001371 Flexion contracture OMIM:248370 LMNA 4000 HP:0003119 Abnormality of lipid metabolism OMIM:248370 LMNA 4000 HP:0002209 Sparse scalp hair OMIM:248370 LMNA 4000 HP:0009839 Osteolytic defects of the distal phalanges of the hand OMIM:248370 LMNA 4000 HP:0100783 Breast aplasia OMIM:248370 LMNA 4000 HP:0000889 Abnormality of the clavicle OMIM:610612 RD3 343035 HP:0008002 Abnormality of macular pigmentation OMIM:610612 RD3 343035 HP:0007875 Congenital blindness OMIM:610612 RD3 343035 HP:0000639 Nystagmus OMIM:613953 IL17RA 23765 HP:0000007 Autosomal recessive inheritance OMIM:613953 IL17RA 23765 HP:0002728 Chronic mucocutaneous candidiasis OMIM:612416 F11 2160 HP:0001892 Abnormal bleeding OMIM:612416 F11 2160 HP:0001929 Reduced factor XI activity OMIM:612416 F11 2160 HP:0003645 Prolonged partial thromboplastin time OMIM:612416 F11 2160 HP:0000007 Autosomal recessive inheritance OMIM:612416 F11 2160 HP:0000006 Autosomal dominant inheritance OMIM:601705 FOXN1 8456 HP:0001803 Nail pits OMIM:601705 FOXN1 8456 HP:0000007 Autosomal recessive inheritance OMIM:601705 FOXN1 8456 HP:0001807 Ridged nail OMIM:601705 FOXN1 8456 HP:0005352 Severe T-cell immunodeficiency OMIM:601705 FOXN1 8456 HP:0008165 Reduced circulating T-helper cells OMIM:601705 FOXN1 8456 HP:0001596 Alopecia OMIM:612394 PLOD3 8985 HP:0002756 Pathologic fracture OMIM:612394 PLOD3 8985 HP:0000938 Osteopenia OMIM:612394 PLOD3 8985 HP:0000369 Low-set ears OMIM:612394 PLOD3 8985 HP:0002987 Elbow flexion contracture OMIM:612394 PLOD3 8985 HP:0003196 Short nose OMIM:612394 PLOD3 8985 HP:0000518 Cataract OMIM:612394 PLOD3 8985 HP:0002164 Nail dysplasia OMIM:612394 PLOD3 8985 HP:0012368 Flat face OMIM:612394 PLOD3 8985 HP:0009110 Diaphragmatic eventration OMIM:612394 PLOD3 8985 HP:0006184 Decreased palmar creases OMIM:612394 PLOD3 8985 HP:0003090 Hypoplasia of the capital femoral epiphysis OMIM:612394 PLOD3 8985 HP:0000272 Malar flattening OMIM:612394 PLOD3 8985 HP:0004944 Cerebral aneurysm OMIM:612394 PLOD3 8985 HP:0000377 Abnormality of the pinna OMIM:612394 PLOD3 8985 HP:0002208 Coarse hair OMIM:612394 PLOD3 8985 HP:0000007 Autosomal recessive inheritance OMIM:612394 PLOD3 8985 HP:0000978 Bruising susceptibility OMIM:612394 PLOD3 8985 HP:0000545 Myopia OMIM:612394 PLOD3 8985 HP:0000365 Hearing impairment OMIM:612394 PLOD3 8985 HP:0000463 Anteverted nares OMIM:612394 PLOD3 8985 HP:0008897 Postnatal growth retardation OMIM:612394 PLOD3 8985 HP:0001762 Talipes equinovarus OMIM:612394 PLOD3 8985 HP:0001263 Global developmental delay OMIM:612394 PLOD3 8985 HP:0003393 Thenar muscle atrophy OMIM:612394 PLOD3 8985 HP:0002680 J-shaped sella turcica OMIM:612394 PLOD3 8985 HP:0000586 Shallow orbits OMIM:612394 PLOD3 8985 HP:0000343 Long philtrum OMIM:612394 PLOD3 8985 HP:0001511 Intrauterine growth retardation OMIM:612394 PLOD3 8985 HP:0002650 Scoliosis OMIM:612394 PLOD3 8985 HP:0000926 Platyspondyly OMIM:612394 PLOD3 8985 HP:0002714 Downturned corners of mouth OMIM:602540 GJB2 2706 HP:0000561 Absent eyelashes OMIM:602540 GJB2 2706 HP:0003593 Infantile onset OMIM:602540 GJB2 2706 HP:0004552 Scarring alopecia of scalp OMIM:602540 GJB2 2706 HP:0000653 Sparse eyelashes OMIM:602540 GJB2 2706 HP:0000535 Sparse eyebrow OMIM:602540 GJB2 2706 HP:0000407 Sensorineural hearing impairment OMIM:602540 GJB2 2706 HP:0011859 Punctate keratitis OMIM:602540 GJB2 2706 HP:0000982 Palmoplantar keratoderma OMIM:602540 GJB2 2706 HP:0008064 Ichthyosis OMIM:602540 GJB2 2706 HP:0002860 Squamous cell carcinoma OMIM:602540 GJB2 2706 HP:0001019 Erythroderma OMIM:602540 GJB2 2706 HP:0000006 Autosomal dominant inheritance OMIM:602540 GJB2 2706 HP:0001761 Pes cavus OMIM:614702 MTO1 25821 HP:0001518 Small for gestational age OMIM:614702 MTO1 25821 HP:0002465 Poor speech OMIM:614702 MTO1 25821 HP:0001639 Hypertrophic cardiomyopathy OMIM:614702 MTO1 25821 HP:0001508 Failure to thrive OMIM:614702 MTO1 25821 HP:0100543 Cognitive impairment OMIM:614702 MTO1 25821 HP:0001263 Global developmental delay OMIM:614702 MTO1 25821 HP:0003128 Lactic acidosis OMIM:614702 MTO1 25821 HP:0001943 Hypoglycemia OMIM:614702 MTO1 25821 HP:0000007 Autosomal recessive inheritance OMIM:614702 MTO1 25821 HP:0003348 Hyperalaninemia OMIM:614702 MTO1 25821 HP:0001257 Spasticity OMIM:614702 MTO1 25821 HP:0011675 Arrhythmia OMIM:614702 MTO1 25821 HP:0001332 Dystonia OMIM:614702 MTO1 25821 HP:0001942 Metabolic acidosis OMIM:614702 MTO1 25821 HP:0001252 Muscular hypotonia OMIM:614702 MTO1 25821 HP:0000648 Optic atrophy OMIM:614702 MTO1 25821 HP:0002151 Increased serum lactate OMIM:614702 MTO1 25821 HP:0011968 Feeding difficulties OMIM:614702 MTO1 25821 HP:0003577 Congenital onset OMIM:614702 MTO1 25821 HP:0001250 Seizures OMIM:613480 GJC2 57165 HP:0003829 Incomplete penetrance OMIM:613480 GJC2 57165 HP:0001004 Lymphedema OMIM:613480 GJC2 57165 HP:0000006 Autosomal dominant inheritance OMIM:613480 GJC2 57165 HP:0001581 Recurrent skin infections OMIM:613480 GJC2 57165 HP:0100658 Cellulitis OMIM:246450 HMGCL 3155 HP:0003819 Death in childhood OMIM:246450 HMGCL 3155 HP:0002240 Hepatomegaly OMIM:246450 HMGCL 3155 HP:0003234 Decreased plasma carnitine OMIM:246450 HMGCL 3155 HP:0001943 Hypoglycemia OMIM:246450 HMGCL 3155 HP:0003150 Glutaric aciduria OMIM:246450 HMGCL 3155 HP:0001987 Hyperammonemia OMIM:246450 HMGCL 3155 HP:0001942 Metabolic acidosis OMIM:246450 HMGCL 3155 HP:0001262 Somnolence OMIM:246450 HMGCL 3155 HP:0000007 Autosomal recessive inheritance OMIM:246450 HMGCL 3155 HP:0003344 3-Methylglutaric aciduria OMIM:246450 HMGCL 3155 HP:0001259 Coma OMIM:246450 HMGCL 3155 HP:0001945 Fever OMIM:220120 GLYCTK 132158 HP:0001942 Metabolic acidosis OMIM:220120 GLYCTK 132158 HP:0001508 Failure to thrive OMIM:220120 GLYCTK 132158 HP:0008936 Muscular hypotonia of the trunk OMIM:220120 GLYCTK 132158 HP:0001263 Global developmental delay OMIM:220120 GLYCTK 132158 HP:0001510 Growth delay OMIM:220120 GLYCTK 132158 HP:0000407 Sensorineural hearing impairment OMIM:220120 GLYCTK 132158 HP:0001249 Intellectual disability OMIM:220120 GLYCTK 132158 HP:0001298 Encephalopathy OMIM:220120 GLYCTK 132158 HP:0002510 Spastic tetraplegia OMIM:220120 GLYCTK 132158 HP:0008288 Nonketotic hyperglycinemia OMIM:220120 GLYCTK 132158 HP:0000007 Autosomal recessive inheritance OMIM:220120 GLYCTK 132158 HP:0001319 Neonatal hypotonia OMIM:220120 GLYCTK 132158 HP:0001250 Seizures OMIM:220120 GLYCTK 132158 HP:0002521 Hypsarrhythmia OMIM:220120 GLYCTK 132158 HP:0003812 Phenotypic variability OMIM:220120 GLYCTK 132158 HP:0001347 Hyperreflexia OMIM:220120 GLYCTK 132158 HP:0001336 Myoclonus OMIM:220120 GLYCTK 132158 HP:0002179 Opisthotonus OMIM:220120 GLYCTK 132158 HP:0012448 Delayed myelination OMIM:220120 GLYCTK 132158 HP:0002120 Cerebral cortical atrophy OMIM:220120 GLYCTK 132158 HP:0000252 Microcephaly OMIM:220120 GLYCTK 132158 HP:0003355 Aminoaciduria OMIM:313500 EDA 1896 HP:0001423 X-linked dominant inheritance OMIM:313500 EDA 1896 HP:0000677 Oligodontia OMIM:313500 EDA 1896 HP:0000668 Hypodontia OMIM:614817 FAN1 22909 HP:0003076 Glycosuria OMIM:614817 FAN1 22909 HP:0002910 Elevated hepatic transaminases OMIM:614817 FAN1 22909 HP:0000007 Autosomal recessive inheritance OMIM:614817 FAN1 22909 HP:0000790 Hematuria OMIM:614817 FAN1 22909 HP:0003774 Stage 5 chronic kidney disease OMIM:614817 FAN1 22909 HP:0003676 Progressive disorder OMIM:614817 FAN1 22909 HP:0000093 Proteinuria OMIM:614817 FAN1 22909 HP:0000090 Nephronophthisis OMIM:614817 FAN1 22909 HP:0003259 Elevated serum creatinine OMIM:614817 FAN1 22909 HP:0001970 Tubulointerstitial nephritis OMIM:201475 ACADVL 37 HP:0009045 Exercise-induced rhabdomyolysis OMIM:201475 ACADVL 37 HP:0001958 Nonketotic hypoglycemia OMIM:201475 ACADVL 37 HP:0003215 Dicarboxylic aciduria OMIM:201475 ACADVL 37 HP:0003234 Decreased plasma carnitine OMIM:201475 ACADVL 37 HP:0001397 Hepatic steatosis OMIM:201475 ACADVL 37 HP:0001639 Hypertrophic cardiomyopathy OMIM:201475 ACADVL 37 HP:0001645 Sudden cardiac death OMIM:201475 ACADVL 37 HP:0002789 Tachypnea OMIM:201475 ACADVL 37 HP:0000007 Autosomal recessive inheritance OMIM:201475 ACADVL 37 HP:0002013 Vomiting OMIM:201475 ACADVL 37 HP:0003236 Elevated serum creatine phosphokinase OMIM:201475 ACADVL 37 HP:0001254 Lethargy OMIM:201475 ACADVL 37 HP:0001404 Hepatocellular necrosis OMIM:201475 ACADVL 37 HP:0002240 Hepatomegaly OMIM:201475 ACADVL 37 HP:0008305 Exercise-induced myoglobinuria OMIM:201475 ACADVL 37 HP:0003552 Muscle stiffness OMIM:201475 ACADVL 37 HP:0001252 Muscular hypotonia OMIM:201475 ACADVL 37 HP:0001324 Muscle weakness OMIM:201475 ACADVL 37 HP:0003738 Exercise-induced myalgia OMIM:614226 CDON 50937 HP:0001263 Global developmental delay OMIM:614226 CDON 50937 HP:0000006 Autosomal dominant inheritance OMIM:614226 CDON 50937 HP:0001360 Holoprosencephaly OMIM:614226 CDON 50937 HP:0000601 Hypotelorism OMIM:614226 CDON 50937 HP:0000252 Microcephaly OMIM:614226 CDON 50937 HP:0001274 Agenesis of corpus callosum OMIM:614226 CDON 50937 HP:0000664 Synophrys OMIM:211500 SLC52A3 113278 HP:0001349 Facial diplegia OMIM:211500 SLC52A3 113278 HP:0007034 Generalized hyperreflexia OMIM:211500 SLC52A3 113278 HP:0005951 Progressive inspiratory stridor OMIM:211500 SLC52A3 113278 HP:0000508 Ptosis OMIM:211500 SLC52A3 113278 HP:0000007 Autosomal recessive inheritance OMIM:211500 SLC52A3 113278 HP:0009113 Diaphragmatic weakness OMIM:211500 SLC52A3 113278 HP:0002015 Dysphagia OMIM:211500 SLC52A3 113278 HP:0001283 Bulbar palsy OMIM:614370 CSF2RB 1439 HP:0002094 Dyspnea OMIM:614370 CSF2RB 1439 HP:0006517 Alveolar proteinosis OMIM:614370 CSF2RB 1439 HP:0000007 Autosomal recessive inheritance OMIM:236250 MTHFR 4524 HP:0001297 Stroke OMIM:236250 MTHFR 4524 HP:0002311 Incoordination OMIM:236250 MTHFR 4524 HP:0002156 Homocystinuria OMIM:236250 MTHFR 4524 HP:0002160 Hyperhomocystinemia OMIM:236250 MTHFR 4524 HP:0000708 Behavioral abnormality OMIM:236250 MTHFR 4524 HP:0000252 Microcephaly OMIM:236250 MTHFR 4524 HP:0001250 Seizures OMIM:236250 MTHFR 4524 HP:0000007 Autosomal recessive inheritance OMIM:236250 MTHFR 4524 HP:0001263 Global developmental delay OMIM:236250 MTHFR 4524 HP:0001288 Gait disturbance OMIM:236250 MTHFR 4524 HP:0003401 Paresthesia OMIM:236250 MTHFR 4524 HP:0001324 Muscle weakness OMIM:260370 PDX1 3651 HP:0001738 Exocrine pancreatic insufficiency OMIM:260370 PDX1 3651 HP:0001508 Failure to thrive OMIM:260370 PDX1 3651 HP:0000857 Neonatal insulin-dependent diabetes mellitus OMIM:260370 PDX1 3651 HP:0001511 Intrauterine growth retardation OMIM:260370 PDX1 3651 HP:0000007 Autosomal recessive inheritance OMIM:260370 PDX1 3651 HP:0002594 Pancreatic hypoplasia OMIM:600995 NPHS2 7827 HP:0000969 Edema OMIM:600995 NPHS2 7827 HP:0003774 Stage 5 chronic kidney disease OMIM:600995 NPHS2 7827 HP:0000100 Nephrotic syndrome OMIM:600995 NPHS2 7827 HP:0003828 Variable expressivity OMIM:600995 NPHS2 7827 HP:0003621 Juvenile onset OMIM:600995 NPHS2 7827 HP:0003073 Hypoalbuminemia OMIM:600995 NPHS2 7827 HP:0000097 Focal segmental glomerulosclerosis OMIM:600995 NPHS2 7827 HP:0000093 Proteinuria OMIM:600995 NPHS2 7827 HP:0003678 Rapidly progressive OMIM:600995 NPHS2 7827 HP:0003077 Hyperlipidemia OMIM:600995 NPHS2 7827 HP:0000007 Autosomal recessive inheritance OMIM:604805 RTN2 6253 HP:0002064 Spastic gait OMIM:604805 RTN2 6253 HP:0000020 Urinary incontinence OMIM:604805 RTN2 6253 HP:0002839 Urinary bladder sphincter dysfunction OMIM:604805 RTN2 6253 HP:0002166 Impaired vibration sensation in the lower limbs OMIM:604805 RTN2 6253 HP:0011449 Knee clonus OMIM:604805 RTN2 6253 HP:0001761 Pes cavus OMIM:604805 RTN2 6253 HP:0003676 Progressive disorder OMIM:604805 RTN2 6253 HP:0007340 Lower limb muscle weakness OMIM:604805 RTN2 6253 HP:0003487 Babinski sign OMIM:604805 RTN2 6253 HP:0000012 Urinary urgency OMIM:604805 RTN2 6253 HP:0000006 Autosomal dominant inheritance OMIM:604805 RTN2 6253 HP:0001258 Spastic paraplegia OMIM:604805 RTN2 6253 HP:0011448 Ankle clonus OMIM:604805 RTN2 6253 HP:0001347 Hyperreflexia OMIM:613874 PLN 5350 HP:0001638 Cardiomyopathy OMIM:613874 PLN 5350 HP:0005110 Atrial fibrillation OMIM:613874 PLN 5350 HP:0001712 Left ventricular hypertrophy OMIM:613874 PLN 5350 HP:0000006 Autosomal dominant inheritance OMIM:615896 KRT71 112802 HP:0001006 Hypotrichosis OMIM:604901 CIRH1A 84916 HP:0006579 Prolonged neonatal jaundice OMIM:604901 CIRH1A 84916 HP:0000007 Autosomal recessive inheritance OMIM:604901 CIRH1A 84916 HP:0001409 Portal hypertension OMIM:604901 CIRH1A 84916 HP:0002613 Biliary cirrhosis OMIM:611554 RAF1 5894 HP:0000465 Webbed neck OMIM:611554 RAF1 5894 HP:0002967 Cubitus valgus OMIM:611554 RAF1 5894 HP:0001639 Hypertrophic cardiomyopathy OMIM:611554 RAF1 5894 HP:0000957 Cafe-au-lait spot OMIM:611554 RAF1 5894 HP:0000369 Low-set ears OMIM:611554 RAF1 5894 HP:0000958 Dry skin OMIM:611554 RAF1 5894 HP:0000006 Autosomal dominant inheritance OMIM:611554 RAF1 5894 HP:0000316 Hypertelorism OMIM:611554 RAF1 5894 HP:0000766 Abnormality of the sternum OMIM:611554 RAF1 5894 HP:0000470 Short neck OMIM:611554 RAF1 5894 HP:0001003 Multiple lentigines OMIM:611554 RAF1 5894 HP:0000303 Mandibular prognathia OMIM:611554 RAF1 5894 HP:0005280 Depressed nasal bridge OMIM:611554 RAF1 5894 HP:0000268 Dolichocephaly OMIM:611554 RAF1 5894 HP:0002212 Curly hair OMIM:611554 RAF1 5894 HP:0004322 Short stature OMIM:611554 RAF1 5894 HP:0000179 Thick lower lip vermilion OMIM:611554 RAF1 5894 HP:0000286 Epicanthus OMIM:611554 RAF1 5894 HP:0000494 Downslanted palpebral fissures OMIM:119300 IRF6 3664 HP:0000668 Hypodontia OMIM:119300 IRF6 3664 HP:0000196 Lower lip pit OMIM:119300 IRF6 3664 HP:0000006 Autosomal dominant inheritance OMIM:119300 IRF6 3664 HP:0000175 Cleft palate OMIM:119300 IRF6 3664 HP:0000193 Bifid uvula OMIM:119300 IRF6 3664 HP:0000204 Cleft upper lip OMIM:212780 LRP4 4038 HP:0000520 Proptosis OMIM:212780 LRP4 4038 HP:0000518 Cataract OMIM:212780 LRP4 4038 HP:0009804 Reduced number of teeth OMIM:212780 LRP4 4038 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:212780 LRP4 4038 HP:0000682 Abnormality of dental enamel OMIM:212780 LRP4 4038 HP:0000104 Renal agenesis OMIM:212780 LRP4 4038 HP:0002974 Radioulnar synostosis OMIM:212780 LRP4 4038 HP:0000494 Downslanted palpebral fissures OMIM:212780 LRP4 4038 HP:0000347 Micrognathia OMIM:212780 LRP4 4038 HP:0007477 Abnormal dermatoglyphics OMIM:212780 LRP4 4038 HP:0003042 Elbow dislocation OMIM:212780 LRP4 4038 HP:0100542 Abnormal localization of kidney OMIM:212780 LRP4 4038 HP:0008678 Renal hypoplasia/aplasia OMIM:212780 LRP4 4038 HP:0000377 Abnormality of the pinna OMIM:212780 LRP4 4038 HP:0003422 Vertebral segmentation defect OMIM:212780 LRP4 4038 HP:0010669 Cheekbone underdevelopment OMIM:212780 LRP4 4038 HP:0002983 Micromelia OMIM:212780 LRP4 4038 HP:0010624 Aplastic/hypoplastic toenail OMIM:212780 LRP4 4038 HP:0011220 Prominent forehead OMIM:212780 LRP4 4038 HP:0002650 Scoliosis OMIM:212780 LRP4 4038 HP:0002007 Frontal bossing OMIM:212780 LRP4 4038 HP:0001601 Laryngomalacia OMIM:212780 LRP4 4038 HP:0000639 Nystagmus OMIM:212780 LRP4 4038 HP:0001163 Abnormality of the metacarpal bones OMIM:212780 LRP4 4038 HP:0000821 Hypothyroidism OMIM:212780 LRP4 4038 HP:0000316 Hypertelorism OMIM:212780 LRP4 4038 HP:0003196 Short nose OMIM:212780 LRP4 4038 HP:0000089 Renal hypoplasia OMIM:212780 LRP4 4038 HP:0003022 Hypoplasia of the ulna OMIM:212780 LRP4 4038 HP:0006101 Finger syndactyly OMIM:212780 LRP4 4038 HP:0000365 Hearing impairment OMIM:212780 LRP4 4038 HP:0000007 Autosomal recessive inheritance OMIM:212780 LRP4 4038 HP:0003272 Abnormality of the hip bone OMIM:212780 LRP4 4038 HP:0000174 Abnormality of the palate OMIM:212780 LRP4 4038 HP:0000508 Ptosis OMIM:212780 LRP4 4038 HP:0000322 Short philtrum OMIM:212780 LRP4 4038 HP:0005048 Synostosis of carpal bones OMIM:212780 LRP4 4038 HP:0001159 Syndactyly OMIM:212780 LRP4 4038 HP:0001839 Split foot OMIM:212780 LRP4 4038 HP:0000772 Abnormality of the ribs OMIM:212780 LRP4 4038 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:212780 LRP4 4038 HP:0001798 Anonychia OMIM:212780 LRP4 4038 HP:0002984 Hypoplasia of the radius OMIM:212780 LRP4 4038 HP:0001171 Split hand OMIM:212780 LRP4 4038 HP:0000444 Convex nasal ridge OMIM:212780 LRP4 4038 HP:0001770 Toe syndactyly OMIM:613086 LTBP2 4053 HP:0001083 Ectopia lentis OMIM:613086 LTBP2 4053 HP:0000613 Photophobia OMIM:613086 LTBP2 4053 HP:0007957 Corneal opacity OMIM:613086 LTBP2 4053 HP:0000007 Autosomal recessive inheritance OMIM:613086 LTBP2 4053 HP:0008007 Primary congenital glaucoma OMIM:612954 BAG3 9531 HP:0006597 Diaphragmatic paralysis OMIM:612954 BAG3 9531 HP:0000006 Autosomal dominant inheritance OMIM:612954 BAG3 9531 HP:0001639 Hypertrophic cardiomyopathy OMIM:612954 BAG3 9531 HP:0003715 Myofibrillar myopathy OMIM:612954 BAG3 9531 HP:0003560 Muscular dystrophy OMIM:612954 BAG3 9531 HP:0002093 Respiratory insufficiency OMIM:612954 BAG3 9531 HP:0007108 Demyelinating peripheral neuropathy OMIM:612954 BAG3 9531 HP:0003388 Easy fatigability OMIM:612954 BAG3 9531 HP:0001611 Nasal speech OMIM:612954 BAG3 9531 HP:0003306 Spinal rigidity OMIM:612954 BAG3 9531 HP:0003700 Generalized amyotrophy OMIM:612954 BAG3 9531 HP:0003236 Elevated serum creatine phosphokinase OMIM:612954 BAG3 9531 HP:0002936 Distal sensory impairment OMIM:612954 BAG3 9531 HP:0010628 Facial palsy OMIM:612954 BAG3 9531 HP:0001761 Pes cavus OMIM:612954 BAG3 9531 HP:0003458 EMG: myopathic abnormalities OMIM:612954 BAG3 9531 HP:0006380 Knee flexion contracture OMIM:612954 BAG3 9531 HP:0003678 Rapidly progressive OMIM:612954 BAG3 9531 HP:0002650 Scoliosis OMIM:612954 BAG3 9531 HP:0003447 Axonal loss OMIM:612954 BAG3 9531 HP:0001265 Hyporeflexia OMIM:607483 SLC19A3 80704 HP:0001260 Dysarthria OMIM:607483 SLC19A3 80704 HP:0001263 Global developmental delay OMIM:607483 SLC19A3 80704 HP:0000544 External ophthalmoplegia OMIM:607483 SLC19A3 80704 HP:0000007 Autosomal recessive inheritance OMIM:607483 SLC19A3 80704 HP:0002062 Morphological abnormality of the pyramidal tract OMIM:607483 SLC19A3 80704 HP:0000737 Irritability OMIM:607483 SLC19A3 80704 HP:0003487 Babinski sign OMIM:607483 SLC19A3 80704 HP:0002063 Rigidity OMIM:607483 SLC19A3 80704 HP:0008936 Muscular hypotonia of the trunk OMIM:607483 SLC19A3 80704 HP:0001945 Fever OMIM:607483 SLC19A3 80704 HP:0001289 Confusion OMIM:607483 SLC19A3 80704 HP:0002066 Gait ataxia OMIM:607483 SLC19A3 80704 HP:0000639 Nystagmus OMIM:607483 SLC19A3 80704 HP:0002300 Mutism OMIM:607483 SLC19A3 80704 HP:0002015 Dysphagia OMIM:607483 SLC19A3 80704 HP:0002385 Paraparesis OMIM:607483 SLC19A3 80704 HP:0002540 Inability to walk OMIM:607483 SLC19A3 80704 HP:0002134 Abnormality of the basal ganglia OMIM:607483 SLC19A3 80704 HP:0001250 Seizures OMIM:607483 SLC19A3 80704 HP:0001298 Encephalopathy OMIM:607483 SLC19A3 80704 HP:0000508 Ptosis OMIM:607483 SLC19A3 80704 HP:0003621 Juvenile onset OMIM:607483 SLC19A3 80704 HP:0001259 Coma OMIM:607483 SLC19A3 80704 HP:0001332 Dystonia OMIM:251120 MCEE 84693 HP:0002912 Methylmalonic acidemia OMIM:251120 MCEE 84693 HP:0001944 Dehydration OMIM:251120 MCEE 84693 HP:0001508 Failure to thrive OMIM:251120 MCEE 84693 HP:0002020 Gastroesophageal reflux OMIM:251120 MCEE 84693 HP:0001942 Metabolic acidosis OMIM:251120 MCEE 84693 HP:0012120 Methylmalonic aciduria OMIM:251120 MCEE 84693 HP:0000007 Autosomal recessive inheritance OMIM:251120 MCEE 84693 HP:0002919 Ketonuria OMIM:189980 ABL1 25 HP:0000006 Autosomal dominant inheritance OMIM:189980 ABL1 25 HP:0001939 Abnormality of metabolism/homeostasis OMIM:189980 ABL1 25 HP:0005506 Chronic myelogenous leukemia OMIM:614497 ABCB6 10058 HP:0000568 Microphthalmos OMIM:614497 ABCB6 10058 HP:0000006 Autosomal dominant inheritance OMIM:615006 ST3GAL3 6487 HP:0011398 Central hypotonia OMIM:615006 ST3GAL3 6487 HP:0000007 Autosomal recessive inheritance OMIM:615006 ST3GAL3 6487 HP:0011097 Epileptic spasms OMIM:615006 ST3GAL3 6487 HP:0002187 Intellectual disability, profound OMIM:615006 ST3GAL3 6487 HP:0000817 Poor eye contact OMIM:615006 ST3GAL3 6487 HP:0001252 Muscular hypotonia OMIM:615006 ST3GAL3 6487 HP:0000737 Irritability OMIM:615006 ST3GAL3 6487 HP:0002521 Hypsarrhythmia OMIM:615006 ST3GAL3 6487 HP:0002476 Primitive reflexes (palmomental, snout, glabellar) OMIM:615006 ST3GAL3 6487 HP:0200134 Epileptic encephalopathy OMIM:615006 ST3GAL3 6487 HP:0001263 Global developmental delay OMIM:188570 THRB 7068 HP:0011788 Increased serum free triiodothyronine (fT3) OMIM:188570 THRB 7068 HP:0002930 Thyroid hormone receptor defect OMIM:188570 THRB 7068 HP:0000006 Autosomal dominant inheritance OMIM:188570 THRB 7068 HP:0000750 Delayed speech and language development OMIM:188570 THRB 7068 HP:0007018 Attention deficit hyperactivity disorder OMIM:188570 THRB 7068 HP:0000853 Goiter OMIM:600116 PARK2 5071 HP:0000007 Autosomal recessive inheritance OMIM:600116 PARK2 5071 HP:0011960 Substantia nigra gliosis OMIM:600116 PARK2 5071 HP:0002063 Rigidity OMIM:600116 PARK2 5071 HP:0001288 Gait disturbance OMIM:600116 PARK2 5071 HP:0001332 Dystonia OMIM:600116 PARK2 5071 HP:0002067 Bradykinesia OMIM:600116 PARK2 5071 HP:0003581 Adult onset OMIM:600116 PARK2 5071 HP:0002172 Postural instability OMIM:600116 PARK2 5071 HP:0001337 Tremor OMIM:600116 PARK2 5071 HP:0001347 Hyperreflexia OMIM:600116 PARK2 5071 HP:0001300 Parkinsonism OMIM:194200 PRKAG2 51422 HP:0001962 Palpitations OMIM:194200 PRKAG2 51422 HP:0004763 Paroxysmal supraventricular tachycardia OMIM:194200 PRKAG2 51422 HP:0001297 Stroke OMIM:194200 PRKAG2 51422 HP:0001645 Sudden cardiac death OMIM:194200 PRKAG2 51422 HP:0001638 Cardiomyopathy OMIM:194200 PRKAG2 51422 HP:0006677 Prolonged QRS complex OMIM:194200 PRKAG2 51422 HP:0006684 Ventricular preexcitation with multiple accessory pathways OMIM:194200 PRKAG2 51422 HP:0005165 Shortened PR interval OMIM:194200 PRKAG2 51422 HP:0001716 Wolff-Parkinson-White syndrome OMIM:194200 PRKAG2 51422 HP:0004757 Paroxysmal atrial fibrillation OMIM:302350 NHS 4810 HP:0000426 Prominent nasal bridge OMIM:302350 NHS 4810 HP:0000505 Visual impairment OMIM:302350 NHS 4810 HP:0000572 Visual loss OMIM:302350 NHS 4810 HP:0000501 Glaucoma OMIM:302350 NHS 4810 HP:0008031 Posterior Y-sutural cataract OMIM:302350 NHS 4810 HP:0001163 Abnormality of the metacarpal bones OMIM:302350 NHS 4810 HP:0000568 Microphthalmos OMIM:302350 NHS 4810 HP:0000276 Long face OMIM:302350 NHS 4810 HP:0000699 Diastema OMIM:302350 NHS 4810 HP:0011069 Increased number of teeth OMIM:302350 NHS 4810 HP:0000482 Microcornea OMIM:302350 NHS 4810 HP:0000639 Nystagmus OMIM:302350 NHS 4810 HP:0000275 Narrow face OMIM:302350 NHS 4810 HP:0000541 Retinal detachment OMIM:302350 NHS 4810 HP:0000518 Cataract OMIM:302350 NHS 4810 HP:0000448 Prominent nose OMIM:302350 NHS 4810 HP:0002342 Intellectual disability, moderate OMIM:302350 NHS 4810 HP:0001500 Broad finger OMIM:302350 NHS 4810 HP:0100543 Cognitive impairment OMIM:302350 NHS 4810 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:302350 NHS 4810 HP:0001423 X-linked dominant inheritance OMIM:302350 NHS 4810 HP:0000486 Strabismus OMIM:302350 NHS 4810 HP:0000303 Mandibular prognathia OMIM:302350 NHS 4810 HP:0000519 Congenital cataract OMIM:302350 NHS 4810 HP:0000708 Behavioral abnormality OMIM:302350 NHS 4810 HP:0006346 Screwdriver-shaped incisors OMIM:302350 NHS 4810 HP:0009803 Short phalanx of finger OMIM:302350 NHS 4810 HP:0000400 Macrotia OMIM:302350 NHS 4810 HP:0006332 Supernumerary maxillary incisor OMIM:302350 NHS 4810 HP:0000717 Autism OMIM:302350 NHS 4810 HP:0005105 Abnormal nasal morphology OMIM:615157 TTC19 54902 HP:0000722 Obsessive-compulsive behavior OMIM:615157 TTC19 54902 HP:0001260 Dysarthria OMIM:615157 TTC19 54902 HP:0001618 Dysphonia OMIM:615157 TTC19 54902 HP:0000639 Nystagmus OMIM:615157 TTC19 54902 HP:0001337 Tremor OMIM:615157 TTC19 54902 HP:0002067 Bradykinesia OMIM:615157 TTC19 54902 HP:0003202 Skeletal muscle atrophy OMIM:615157 TTC19 54902 HP:0000007 Autosomal recessive inheritance OMIM:615157 TTC19 54902 HP:0002075 Dysdiadochokinesis OMIM:615157 TTC19 54902 HP:0000738 Hallucinations OMIM:615157 TTC19 54902 HP:0002059 Cerebral atrophy OMIM:615157 TTC19 54902 HP:0003812 Phenotypic variability OMIM:615157 TTC19 54902 HP:0040078 Axonal degeneration OMIM:615157 TTC19 54902 HP:0002313 Spastic paraparesis OMIM:615157 TTC19 54902 HP:0000365 Hearing impairment OMIM:615157 TTC19 54902 HP:0001347 Hyperreflexia OMIM:615157 TTC19 54902 HP:0002542 Olivopontocerebellar atrophy OMIM:615157 TTC19 54902 HP:0000718 Aggressive behavior OMIM:615157 TTC19 54902 HP:0001272 Cerebellar atrophy OMIM:615157 TTC19 54902 HP:0003487 Babinski sign OMIM:615157 TTC19 54902 HP:0000709 Psychosis OMIM:615157 TTC19 54902 HP:0002186 Apraxia OMIM:615157 TTC19 54902 HP:0002311 Incoordination OMIM:615157 TTC19 54902 HP:0001324 Muscle weakness OMIM:615157 TTC19 54902 HP:0001310 Dysmetria OMIM:615157 TTC19 54902 HP:0000739 Anxiety OMIM:615157 TTC19 54902 HP:0001263 Global developmental delay OMIM:615157 TTC19 54902 HP:0100543 Cognitive impairment OMIM:615157 TTC19 54902 HP:0001332 Dystonia OMIM:615157 TTC19 54902 HP:0002180 Neurodegeneration OMIM:254300 DOK7 285489 HP:0003621 Juvenile onset OMIM:254300 DOK7 285489 HP:0003391 Gowers sign OMIM:254300 DOK7 285489 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:254300 DOK7 285489 HP:0003388 Easy fatigability OMIM:254300 DOK7 285489 HP:0010628 Facial palsy OMIM:254300 DOK7 285489 HP:0001283 Bulbar palsy OMIM:254300 DOK7 285489 HP:0007126 Proximal amyotrophy OMIM:254300 DOK7 285489 HP:0003394 Muscle cramps OMIM:254300 DOK7 285489 HP:0002515 Waddling gait OMIM:254300 DOK7 285489 HP:0000597 Ophthalmoparesis OMIM:254300 DOK7 285489 HP:0008180 Mildly elevated creatine phosphokinase OMIM:254300 DOK7 285489 HP:0000007 Autosomal recessive inheritance OMIM:254300 DOK7 285489 HP:0003473 Fatigable weakness OMIM:254300 DOK7 285489 HP:0000508 Ptosis OMIM:254300 DOK7 285489 HP:0003693 Distal amyotrophy OMIM:254300 DOK7 285489 HP:0001558 Decreased fetal movement OMIM:254300 DOK7 285489 HP:0002715 Abnormality of the immune system OMIM:265800 CTSK 1513 HP:0000889 Abnormality of the clavicle OMIM:265800 CTSK 1513 HP:0002240 Hepatomegaly OMIM:265800 CTSK 1513 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:265800 CTSK 1513 HP:0001903 Anemia OMIM:265800 CTSK 1513 HP:0000774 Narrow chest OMIM:265800 CTSK 1513 HP:0003307 Hyperlordosis OMIM:265800 CTSK 1513 HP:0006482 Abnormality of dental morphology OMIM:265800 CTSK 1513 HP:0003302 Spondylolisthesis OMIM:265800 CTSK 1513 HP:0001156 Brachydactyly syndrome OMIM:265800 CTSK 1513 HP:0001798 Anonychia OMIM:265800 CTSK 1513 HP:0100543 Cognitive impairment OMIM:265800 CTSK 1513 HP:0000238 Hydrocephalus OMIM:265800 CTSK 1513 HP:0000347 Micrognathia OMIM:265800 CTSK 1513 HP:0000272 Malar flattening OMIM:265800 CTSK 1513 HP:0002645 Wormian bones OMIM:265800 CTSK 1513 HP:0000448 Prominent nose OMIM:265800 CTSK 1513 HP:0000765 Abnormality of the thorax OMIM:265800 CTSK 1513 HP:0000269 Prominent occiput OMIM:265800 CTSK 1513 HP:0002757 Recurrent fractures OMIM:265800 CTSK 1513 HP:0004474 Persistent open anterior fontanelle OMIM:265800 CTSK 1513 HP:0001231 Abnormality of the fingernails OMIM:265800 CTSK 1513 HP:0001831 Short toe OMIM:265800 CTSK 1513 HP:0002652 Skeletal dysplasia OMIM:265800 CTSK 1513 HP:0002653 Bone pain OMIM:265800 CTSK 1513 HP:0000696 Delayed eruption of permanent teeth OMIM:265800 CTSK 1513 HP:0003304 Spondylolysis OMIM:265800 CTSK 1513 HP:0001807 Ridged nail OMIM:265800 CTSK 1513 HP:0009839 Osteolytic defects of the distal phalanges of the hand OMIM:265800 CTSK 1513 HP:0002007 Frontal bossing OMIM:265800 CTSK 1513 HP:0005930 Abnormality of epiphysis morphology OMIM:265800 CTSK 1513 HP:0000189 Narrow palate OMIM:265800 CTSK 1513 HP:0000592 Blue sclerae OMIM:265800 CTSK 1513 HP:0001744 Splenomegaly OMIM:265800 CTSK 1513 HP:0002808 Kyphosis OMIM:265800 CTSK 1513 HP:0004322 Short stature OMIM:265800 CTSK 1513 HP:0000520 Proptosis OMIM:265800 CTSK 1513 HP:0000668 Hypodontia OMIM:265800 CTSK 1513 HP:0000680 Delayed eruption of primary teeth OMIM:265800 CTSK 1513 HP:0000348 High forehead OMIM:265800 CTSK 1513 HP:0009882 Short distal phalanx of finger OMIM:265800 CTSK 1513 HP:0002650 Scoliosis OMIM:265800 CTSK 1513 HP:0002688 Absent frontal sinuses OMIM:265800 CTSK 1513 HP:0006335 Persistence of primary teeth OMIM:265800 CTSK 1513 HP:0002754 Osteomyelitis OMIM:265800 CTSK 1513 HP:0000670 Carious teeth OMIM:265800 CTSK 1513 HP:0002797 Osteolysis OMIM:265800 CTSK 1513 HP:0000684 Delayed eruption of teeth OMIM:265800 CTSK 1513 HP:0002793 Abnormal pattern of respiration OMIM:265800 CTSK 1513 HP:0000007 Autosomal recessive inheritance OMIM:265800 CTSK 1513 HP:0011001 Increased bone mineral density OMIM:265800 CTSK 1513 HP:0000174 Abnormality of the palate OMIM:614653 DST 667 HP:0000331 Short chin OMIM:614653 DST 667 HP:0001762 Talipes equinovarus OMIM:614653 DST 667 HP:0000522 Alacrima OMIM:614653 DST 667 HP:0001649 Tachycardia OMIM:614653 DST 667 HP:0001371 Flexion contracture OMIM:614653 DST 667 HP:0001945 Fever OMIM:614653 DST 667 HP:0000559 Corneal scarring OMIM:614653 DST 667 HP:0002104 Apnea OMIM:614653 DST 667 HP:0007610 Blotching pigmentation of the skin OMIM:614653 DST 667 HP:0000763 Sensory neuropathy OMIM:614653 DST 667 HP:0000369 Low-set ears OMIM:614653 DST 667 HP:0001662 Bradycardia OMIM:614653 DST 667 HP:0002093 Respiratory insufficiency OMIM:614653 DST 667 HP:0001510 Growth delay OMIM:614653 DST 667 HP:0000007 Autosomal recessive inheritance OMIM:614653 DST 667 HP:0011968 Feeding difficulties OMIM:614653 DST 667 HP:0000194 Open mouth OMIM:614653 DST 667 HP:0001319 Neonatal hypotonia OMIM:614653 DST 667 HP:0000218 High palate OMIM:614653 DST 667 HP:0001284 Areflexia OMIM:614653 DST 667 HP:0003093 Limited hip extension OMIM:614653 DST 667 HP:0000975 Hyperhidrosis OMIM:614653 DST 667 HP:0001188 Hand clenching OMIM:132600 CTNNB1 1499 HP:0001428 Somatic mutation OMIM:132600 CTNNB1 1499 HP:0008069 Neoplasm of the skin OMIM:132600 CTNNB1 1499 HP:0000006 Autosomal dominant inheritance OMIM:132600 MUTYH 4595 HP:0001428 Somatic mutation OMIM:132600 MUTYH 4595 HP:0008069 Neoplasm of the skin OMIM:132600 MUTYH 4595 HP:0000006 Autosomal dominant inheritance OMIM:602092 USH1C 10083 HP:0000407 Sensorineural hearing impairment OMIM:602092 USH1C 10083 HP:0000007 Autosomal recessive inheritance ORPHANET:2470 RARB 5915 HP:0100867 Duodenal stenosis ORPHANET:2470 RARB 5915 HP:0000776 Congenital diaphragmatic hernia ORPHANET:2470 RARB 5915 HP:0001252 Muscular hypotonia ORPHANET:2470 RARB 5915 HP:0100542 Abnormal localization of kidney ORPHANET:2470 RARB 5915 HP:0000008 Abnormality of female internal genitalia ORPHANET:2470 RARB 5915 HP:0001743 Abnormality of the spleen ORPHANET:2470 RARB 5915 HP:0100543 Cognitive impairment ORPHANET:2470 RARB 5915 HP:0002101 Abnormal lung lobation ORPHANET:2470 RARB 5915 HP:0002564 Malformation of the heart and great vessels ORPHANET:2470 RARB 5915 HP:0008678 Renal hypoplasia/aplasia ORPHANET:2470 RARB 5915 HP:0100800 Aplasia/Hypoplasia of the pancreas ORPHANET:2470 RARB 5915 HP:0001511 Intrauterine growth retardation ORPHANET:2470 RARB 5915 HP:0001600 Abnormality of the larynx ORPHANET:2470 RARB 5915 HP:0000028 Cryptorchidism ORPHANET:2470 RARB 5915 HP:0001734 Annular pancreas ORPHANET:2470 RARB 5915 HP:0000076 Vesicoureteral reflux ORPHANET:2470 RARB 5915 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2470 RARB 5915 HP:0006703 Aplasia/Hypoplasia of the lungs ORPHANET:2470 RARB 5915 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:2470 STRA6 64220 HP:0100867 Duodenal stenosis ORPHANET:2470 STRA6 64220 HP:0000776 Congenital diaphragmatic hernia ORPHANET:2470 STRA6 64220 HP:0001252 Muscular hypotonia ORPHANET:2470 STRA6 64220 HP:0100542 Abnormal localization of kidney ORPHANET:2470 STRA6 64220 HP:0000008 Abnormality of female internal genitalia ORPHANET:2470 STRA6 64220 HP:0001743 Abnormality of the spleen ORPHANET:2470 STRA6 64220 HP:0100543 Cognitive impairment ORPHANET:2470 STRA6 64220 HP:0002101 Abnormal lung lobation ORPHANET:2470 STRA6 64220 HP:0002564 Malformation of the heart and great vessels ORPHANET:2470 STRA6 64220 HP:0008678 Renal hypoplasia/aplasia ORPHANET:2470 STRA6 64220 HP:0100800 Aplasia/Hypoplasia of the pancreas ORPHANET:2470 STRA6 64220 HP:0001511 Intrauterine growth retardation ORPHANET:2470 STRA6 64220 HP:0001600 Abnormality of the larynx ORPHANET:2470 STRA6 64220 HP:0000028 Cryptorchidism ORPHANET:2470 STRA6 64220 HP:0001734 Annular pancreas ORPHANET:2470 STRA6 64220 HP:0000076 Vesicoureteral reflux ORPHANET:2470 STRA6 64220 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2470 STRA6 64220 HP:0006703 Aplasia/Hypoplasia of the lungs ORPHANET:2470 STRA6 64220 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:604229 PAX6 5080 HP:0000518 Cataract OMIM:604229 PAX6 5080 HP:0000482 Microcornea OMIM:604229 PAX6 5080 HP:0000007 Autosomal recessive inheritance OMIM:604229 PAX6 5080 HP:0007759 Opacification of the corneal stroma OMIM:604229 PAX6 5080 HP:0001131 Corneal dystrophy OMIM:604229 PAX6 5080 HP:0001087 Congenital glaucoma OMIM:604229 PAX6 5080 HP:0000639 Nystagmus OMIM:604229 PAX6 5080 HP:0000486 Strabismus OMIM:604229 PAX6 5080 HP:0008063 Aplasia/Hypoplasia of the lens OMIM:604229 PAX6 5080 HP:0000659 Peters anomaly OMIM:604229 PAX6 5080 HP:0000689 Dental malocclusion OMIM:604229 PAX6 5080 HP:0007957 Corneal opacity OMIM:604229 PAX6 5080 HP:0000347 Micrognathia OMIM:604229 CYP1B1 1545 HP:0000518 Cataract OMIM:604229 CYP1B1 1545 HP:0000482 Microcornea OMIM:604229 CYP1B1 1545 HP:0000007 Autosomal recessive inheritance OMIM:604229 CYP1B1 1545 HP:0007759 Opacification of the corneal stroma OMIM:604229 CYP1B1 1545 HP:0001131 Corneal dystrophy OMIM:604229 CYP1B1 1545 HP:0001087 Congenital glaucoma OMIM:604229 CYP1B1 1545 HP:0000639 Nystagmus OMIM:604229 CYP1B1 1545 HP:0000486 Strabismus OMIM:604229 CYP1B1 1545 HP:0008063 Aplasia/Hypoplasia of the lens OMIM:604229 CYP1B1 1545 HP:0000659 Peters anomaly OMIM:604229 CYP1B1 1545 HP:0000689 Dental malocclusion OMIM:604229 CYP1B1 1545 HP:0007957 Corneal opacity OMIM:604229 CYP1B1 1545 HP:0000347 Micrognathia OMIM:604229 PITX2 5308 HP:0000518 Cataract OMIM:604229 PITX2 5308 HP:0000482 Microcornea OMIM:604229 PITX2 5308 HP:0000007 Autosomal recessive inheritance OMIM:604229 PITX2 5308 HP:0007759 Opacification of the corneal stroma OMIM:604229 PITX2 5308 HP:0001131 Corneal dystrophy OMIM:604229 PITX2 5308 HP:0001087 Congenital glaucoma OMIM:604229 PITX2 5308 HP:0000639 Nystagmus OMIM:604229 PITX2 5308 HP:0000486 Strabismus OMIM:604229 PITX2 5308 HP:0008063 Aplasia/Hypoplasia of the lens OMIM:604229 PITX2 5308 HP:0000659 Peters anomaly OMIM:604229 PITX2 5308 HP:0000689 Dental malocclusion OMIM:604229 PITX2 5308 HP:0007957 Corneal opacity OMIM:604229 PITX2 5308 HP:0000347 Micrognathia OMIM:250800 CYB5R3 1727 HP:0001901 Polycythemia OMIM:250800 CYB5R3 1727 HP:0000486 Strabismus OMIM:250800 CYB5R3 1727 HP:0001249 Intellectual disability OMIM:250800 CYB5R3 1727 HP:0002875 Exertional dyspnea OMIM:250800 CYB5R3 1727 HP:0001263 Global developmental delay OMIM:250800 CYB5R3 1727 HP:0001510 Growth delay OMIM:250800 CYB5R3 1727 HP:0001276 Hypertonia OMIM:250800 CYB5R3 1727 HP:0002179 Opisthotonus OMIM:250800 CYB5R3 1727 HP:0012119 Methemoglobinemia OMIM:250800 CYB5R3 1727 HP:0002315 Headache OMIM:250800 CYB5R3 1727 HP:0000252 Microcephaly OMIM:250800 CYB5R3 1727 HP:0000961 Cyanosis OMIM:250800 CYB5R3 1727 HP:0000007 Autosomal recessive inheritance OMIM:250460 RMRP 6023 HP:0002983 Micromelia OMIM:250460 RMRP 6023 HP:0010049 Short metacarpal OMIM:250460 RMRP 6023 HP:0000925 Abnormality of the vertebral column OMIM:250460 RMRP 6023 HP:0002715 Abnormality of the immune system OMIM:250460 RMRP 6023 HP:0000007 Autosomal recessive inheritance OMIM:250460 RMRP 6023 HP:0100255 Metaphyseal dysplasia OMIM:250460 RMRP 6023 HP:0003510 Severe short stature OMIM:250460 RMRP 6023 HP:0002970 Genu varum OMIM:250460 RMRP 6023 HP:0003025 Metaphyseal irregularity OMIM:250460 RMRP 6023 HP:0001595 Abnormality of the hair OMIM:250460 RMRP 6023 HP:0001388 Joint laxity OMIM:250460 RMRP 6023 HP:0003026 Short long bone OMIM:250460 RMRP 6023 HP:0006028 Metaphyseal cupping of metacarpals OMIM:250460 RMRP 6023 HP:0010230 Cone-shaped epiphyses of the phalanges of the hand OMIM:250460 RMRP 6023 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:174300 DDX59 83479 HP:0000007 Autosomal recessive inheritance OMIM:174300 DDX59 83479 HP:0000286 Epicanthus OMIM:174300 DDX59 83479 HP:0001162 Postaxial hand polydactyly OMIM:174300 DDX59 83479 HP:0000316 Hypertelorism OMIM:174300 DDX59 83479 HP:0000163 Abnormality of the oral cavity OMIM:174300 DDX59 83479 HP:0000175 Cleft palate OMIM:174300 DDX59 83479 HP:0001156 Brachydactyly syndrome OMIM:174300 DDX59 83479 HP:0002251 Aganglionic megacolon OMIM:174300 DDX59 83479 HP:0002007 Frontal bossing OMIM:174300 DDX59 83479 HP:0001249 Intellectual disability OMIM:174300 DDX59 83479 HP:0000161 Median cleft lip OMIM:174300 DDX59 83479 HP:0001830 Postaxial foot polydactyly OMIM:174300 DDX59 83479 HP:0000180 Lobulated tongue OMIM:174300 DDX59 83479 HP:0006101 Finger syndactyly OMIM:174300 DDX59 83479 HP:0001274 Agenesis of corpus callosum OMIM:174300 DDX59 83479 HP:0000193 Bifid uvula OMIM:174300 DDX59 83479 HP:0001177 Preaxial hand polydactyly OMIM:174300 DDX59 83479 HP:0000324 Facial asymmetry OMIM:174300 DDX59 83479 HP:0002650 Scoliosis OMIM:613095 PKD2 5311 HP:0000113 Polycystic kidney dysplasia OMIM:613095 PKD2 5311 HP:0000083 Renal insufficiency OMIM:613095 PKD2 5311 HP:0000006 Autosomal dominant inheritance OMIM:613789 C8B 732 HP:0004434 C8 deficiency OMIM:613789 C8B 732 HP:0000007 Autosomal recessive inheritance OMIM:613789 C8B 732 HP:0005430 Recurrent Neisserial infections OMIM:613789 C8B 732 HP:0001287 Meningitis ORPHANET:915 FGD1 2245 HP:0000494 Downslanted palpebral fissures ORPHANET:915 FGD1 2245 HP:0000286 Epicanthus ORPHANET:915 FGD1 2245 HP:0009890 High anterior hairline ORPHANET:915 FGD1 2245 HP:0004322 Short stature ORPHANET:915 FGD1 2245 HP:0000337 Broad forehead ORPHANET:915 FGD1 2245 HP:0100490 Camptodactyly of finger ORPHANET:915 FGD1 2245 HP:0002564 Malformation of the heart and great vessels ORPHANET:915 FGD1 2245 HP:0001883 Talipes ORPHANET:915 FGD1 2245 HP:0000316 Hypertelorism ORPHANET:915 FGD1 2245 HP:0000767 Pectus excavatum ORPHANET:915 FGD1 2245 HP:0000974 Hyperextensible skin ORPHANET:915 FGD1 2245 HP:0001763 Pes planus ORPHANET:915 FGD1 2245 HP:0001156 Brachydactyly syndrome ORPHANET:915 FGD1 2245 HP:0000431 Wide nasal bridge ORPHANET:915 FGD1 2245 HP:0000175 Cleft palate ORPHANET:915 FGD1 2245 HP:0000232 Everted lower lip vermilion ORPHANET:915 FGD1 2245 HP:0001537 Umbilical hernia ORPHANET:915 FGD1 2245 HP:0000463 Anteverted nares ORPHANET:915 FGD1 2245 HP:0000486 Strabismus ORPHANET:915 FGD1 2245 HP:0000684 Delayed eruption of teeth ORPHANET:915 FGD1 2245 HP:0001635 Congestive heart failure ORPHANET:915 FGD1 2245 HP:0008572 External ear malformation ORPHANET:915 FGD1 2245 HP:0000311 Round face ORPHANET:915 FGD1 2245 HP:0000470 Short neck ORPHANET:915 FGD1 2245 HP:0000343 Long philtrum ORPHANET:915 FGD1 2245 HP:0000954 Single transverse palmar crease ORPHANET:915 FGD1 2245 HP:0001769 Broad foot ORPHANET:915 FGD1 2245 HP:0006101 Finger syndactyly ORPHANET:915 FGD1 2245 HP:0000049 Shawl scrotum ORPHANET:915 FGD1 2245 HP:0100543 Cognitive impairment ORPHANET:915 FGD1 2245 HP:0000508 Ptosis ORPHANET:915 FGD1 2245 HP:0000204 Cleft upper lip ORPHANET:915 FGD1 2245 HP:0001382 Joint hypermobility ORPHANET:915 FGD1 2245 HP:0001831 Short toe ORPHANET:915 FGD1 2245 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:915 FGD1 2245 HP:0007018 Attention deficit hyperactivity disorder ORPHANET:915 FGD1 2245 HP:0004209 Clinodactyly of the 5th finger ORPHANET:915 FGD1 2245 HP:0000485 Megalocornea ORPHANET:915 FGD1 2245 HP:0004279 Short palm ORPHANET:915 FGD1 2245 HP:0000028 Cryptorchidism ORPHANET:915 FGD1 2245 HP:0002816 Genu recurvatum OMIM:616276 COQ4 51117 HP:0002151 Increased serum lactate OMIM:616276 COQ4 51117 HP:0001250 Seizures OMIM:616276 COQ4 51117 HP:0001639 Hypertrophic cardiomyopathy OMIM:616276 COQ4 51117 HP:0001511 Intrauterine growth retardation OMIM:616276 COQ4 51117 HP:0001321 Cerebellar hypoplasia OMIM:616276 COQ4 51117 HP:0001252 Muscular hypotonia OMIM:616276 COQ4 51117 HP:0200134 Epileptic encephalopathy OMIM:616276 COQ4 51117 HP:0002093 Respiratory insufficiency OMIM:616276 COQ4 51117 HP:0001662 Bradycardia OMIM:616276 COQ4 51117 HP:0001643 Patent ductus arteriosus OMIM:616276 COQ4 51117 HP:0002650 Scoliosis OMIM:616276 COQ4 51117 HP:0002015 Dysphagia OMIM:613024 BCL10 8915 HP:0002103 Abnormality of the pleura OMIM:613024 BCL10 8915 HP:0100721 Mediastinal lymphadenopathy OMIM:613024 BCL10 8915 HP:0004377 Hematological neoplasm OMIM:613024 BCL10 8915 HP:0002585 Abnormality of the peritoneum OMIM:613024 BCL10 8915 HP:0001824 Weight loss OMIM:613024 BCL10 8915 HP:0000975 Hyperhidrosis OMIM:613024 BCL10 8915 HP:0002665 Lymphoma OMIM:613024 BCL10 8915 HP:0001287 Meningitis OMIM:613024 BCL10 8915 HP:0004370 Abnormality of temperature regulation OMIM:613024 BCL10 8915 HP:0001744 Splenomegaly OMIM:613024 BCL10 8915 HP:0001004 Lymphedema OMIM:277590 EZH2 2146 HP:0003066 Limited knee extension OMIM:277590 EZH2 2146 HP:0005280 Depressed nasal bridge OMIM:277590 EZH2 2146 HP:0000973 Cutis laxa OMIM:277590 EZH2 2146 HP:0200000 Dysharmonic bone age OMIM:277590 EZH2 2146 HP:0002673 Coxa valga OMIM:277590 EZH2 2146 HP:0000256 Macrocephaly OMIM:277590 EZH2 2146 HP:0001883 Talipes OMIM:277590 EZH2 2146 HP:0009602 Abnormality of thumb phalanx OMIM:277590 EZH2 2146 HP:0000337 Broad forehead OMIM:277590 EZH2 2146 HP:0000028 Cryptorchidism OMIM:277590 EZH2 2146 HP:0010300 Abnormally low-pitched voice OMIM:277590 EZH2 2146 HP:0001540 Diastasis recti OMIM:277590 EZH2 2146 HP:0001176 Large hands OMIM:277590 EZH2 2146 HP:0002808 Kyphosis OMIM:277590 EZH2 2146 HP:0000034 Hydrocele testis OMIM:277590 EZH2 2146 HP:0001276 Hypertonia OMIM:277590 EZH2 2146 HP:0009466 Radial deviation of finger OMIM:277590 EZH2 2146 HP:0000400 Macrotia OMIM:277590 EZH2 2146 HP:0000311 Round face OMIM:277590 EZH2 2146 HP:0001231 Abnormality of the fingernails OMIM:277590 EZH2 2146 HP:0000343 Long philtrum OMIM:277590 EZH2 2146 HP:0002650 Scoliosis OMIM:277590 EZH2 2146 HP:0001382 Joint hypermobility OMIM:277590 EZH2 2146 HP:0000368 Low-set, posteriorly rotated ears OMIM:277590 EZH2 2146 HP:0000278 Retrognathia OMIM:277590 EZH2 2146 HP:0001800 Hypoplastic toenails OMIM:277590 EZH2 2146 HP:0030084 Clinodactyly OMIM:277590 EZH2 2146 HP:0004689 Short fourth metatarsal OMIM:277590 EZH2 2146 HP:0006101 Finger syndactyly OMIM:277590 EZH2 2146 HP:0001762 Talipes equinovarus OMIM:277590 EZH2 2146 HP:0006956 Dilation of lateral ventricles OMIM:277590 EZH2 2146 HP:0002213 Fine hair OMIM:277590 EZH2 2146 HP:0000316 Hypertelorism OMIM:277590 EZH2 2146 HP:0001263 Global developmental delay OMIM:277590 EZH2 2146 HP:0005616 Accelerated skeletal maturation OMIM:277590 EZH2 2146 HP:0001769 Broad foot OMIM:277590 EZH2 2146 HP:0001376 Limitation of joint mobility OMIM:277590 EZH2 2146 HP:0001761 Pes cavus OMIM:277590 EZH2 2146 HP:0001845 Overlapping toe OMIM:277590 EZH2 2146 HP:0001249 Intellectual disability OMIM:277590 EZH2 2146 HP:0001840 Metatarsus adductus OMIM:277590 EZH2 2146 HP:0001250 Seizures OMIM:277590 EZH2 2146 HP:0008070 Sparse hair OMIM:277590 EZH2 2146 HP:0000708 Behavioral abnormality OMIM:277590 EZH2 2146 HP:0003911 Flared humeral metaphysis OMIM:277590 EZH2 2146 HP:0011304 Broad thumb OMIM:277590 EZH2 2146 HP:0010751 Chin dimple OMIM:277590 EZH2 2146 HP:0000023 Inguinal hernia OMIM:277590 EZH2 2146 HP:0001260 Dysarthria OMIM:277590 EZH2 2146 HP:0012385 Camptodactyly OMIM:277590 EZH2 2146 HP:0004299 Hernia of the abdominal wall OMIM:277590 EZH2 2146 HP:0000773 Short ribs OMIM:277590 EZH2 2146 HP:0001537 Umbilical hernia OMIM:277590 EZH2 2146 HP:0000006 Autosomal dominant inheritance OMIM:277590 EZH2 2146 HP:0002834 Flared femoral metaphysis OMIM:277590 EZH2 2146 HP:0000494 Downslanted palpebral fissures OMIM:277590 EZH2 2146 HP:0000486 Strabismus OMIM:277590 EZH2 2146 HP:0000286 Epicanthus OMIM:277590 EZH2 2146 HP:0002564 Malformation of the heart and great vessels OMIM:277590 EZH2 2146 HP:0009473 Joint contracture of the hand OMIM:277590 EZH2 2146 HP:0002866 Hypoplastic iliac wing OMIM:277590 EZH2 2146 HP:0000098 Tall stature OMIM:277590 EZH2 2146 HP:0001852 Sandal gap OMIM:277590 EZH2 2146 HP:0001212 Prominent fingertip pads OMIM:277590 EZH2 2146 HP:0100490 Camptodactyly of finger OMIM:277590 EZH2 2146 HP:0003186 Inverted nipples OMIM:277590 EZH2 2146 HP:0001814 Deep-set nails OMIM:277590 EZH2 2146 HP:0001848 Calcaneovalgus deformity OMIM:277590 EZH2 2146 HP:0001257 Spasticity OMIM:277590 EZH2 2146 HP:0000303 Mandibular prognathia OMIM:277590 EZH2 2146 HP:0000750 Delayed speech and language development OMIM:277590 EZH2 2146 HP:0001816 Thin nail OMIM:277590 EZH2 2146 HP:0001252 Muscular hypotonia OMIM:277590 EZH2 2146 HP:0001331 Absent septum pellucidum OMIM:277590 EZH2 2146 HP:0100543 Cognitive impairment OMIM:277590 EZH2 2146 HP:0000347 Micrognathia OMIM:277590 EZH2 2146 HP:0008736 Hypoplasia of penis OMIM:277590 EZH2 2146 HP:0001350 Slurred speech OMIM:277590 EZH2 2146 HP:0001377 Limited elbow extension OMIM:277590 EZH2 2146 HP:0002002 Deep philtrum OMIM:267500 AK2 204 HP:0003287 Abnormality of mitochondrial metabolism OMIM:267500 AK2 204 HP:0001903 Anemia OMIM:267500 AK2 204 HP:0200042 Skin ulcer OMIM:267500 AK2 204 HP:0002024 Malabsorption OMIM:267500 AK2 204 HP:0001824 Weight loss OMIM:267500 AK2 204 HP:0005354 Absent cellular immunity OMIM:267500 AK2 204 HP:0001874 Abnormality of neutrophils OMIM:267500 AK2 204 HP:0005374 Cellular immunodeficiency OMIM:267500 AK2 204 HP:0004313 Hypogammaglobulinemia OMIM:267500 AK2 204 HP:0100806 Sepsis OMIM:267500 AK2 204 HP:0000777 Abnormality of the thymus OMIM:267500 AK2 204 HP:0000365 Hearing impairment OMIM:267500 AK2 204 HP:0004430 Severe combined immunodeficiency OMIM:267500 AK2 204 HP:0010515 Aplasia/Hypoplasia of the thymus OMIM:267500 AK2 204 HP:0002205 Recurrent respiratory infections OMIM:267500 AK2 204 HP:0005541 Congenital agranulocytosis OMIM:267500 AK2 204 HP:0001944 Dehydration OMIM:267500 AK2 204 HP:0001888 Lymphopenia OMIM:267500 AK2 204 HP:0000388 Otitis media OMIM:267500 AK2 204 HP:0002014 Diarrhea OMIM:267500 AK2 204 HP:0004370 Abnormality of temperature regulation OMIM:267500 AK2 204 HP:0000007 Autosomal recessive inheritance OMIM:267500 AK2 204 HP:0000988 Skin rash OMIM:267500 AK2 204 HP:0001882 Leukopenia ORPHANET:2514 DPP6 1804 HP:0004322 Short stature ORPHANET:2514 DPP6 1804 HP:0000252 Microcephaly ORPHANET:2514 DPP6 1804 HP:0000486 Strabismus ORPHANET:2514 DPP6 1804 HP:0000377 Abnormality of the pinna ORPHANET:2514 DPP6 1804 HP:0000639 Nystagmus ORPHANET:2514 DPP6 1804 HP:0009804 Reduced number of teeth OMIM:236800 KYNU 8942 HP:0003011 Abnormality of the musculature OMIM:236800 KYNU 8942 HP:0001276 Hypertonia OMIM:236800 KYNU 8942 HP:0000365 Hearing impairment OMIM:236800 KYNU 8942 HP:0002086 Abnormality of the respiratory system OMIM:236800 KYNU 8942 HP:0001942 Metabolic acidosis OMIM:236800 KYNU 8942 HP:0001263 Global developmental delay OMIM:236800 KYNU 8942 HP:0000007 Autosomal recessive inheritance OMIM:236800 KYNU 8942 HP:0007030 Nonprogressive encephalopathy OMIM:236800 KYNU 8942 HP:0003355 Aminoaciduria OMIM:236800 KYNU 8942 HP:0001649 Tachycardia OMIM:236800 KYNU 8942 HP:0000124 Renal tubular dysfunction OMIM:236800 KYNU 8942 HP:0001249 Intellectual disability OMIM:236800 KYNU 8942 HP:0001259 Coma OMIM:236800 KYNU 8942 HP:0002615 Hypotension OMIM:276904 USH1C 10083 HP:0001756 Vestibular hypofunction OMIM:276904 USH1C 10083 HP:0000510 Retinitis pigmentosa OMIM:276904 USH1C 10083 HP:0000007 Autosomal recessive inheritance OMIM:276904 USH1C 10083 HP:0008527 Congenital sensorineural hearing impairment ORPHANET:1466 ERCC1 2067 HP:0000648 Optic atrophy ORPHANET:1466 ERCC1 2067 HP:0004322 Short stature ORPHANET:1466 ERCC1 2067 HP:0010978 Abnormality of immune system physiology ORPHANET:1466 ERCC1 2067 HP:0000365 Hearing impairment ORPHANET:1466 ERCC1 2067 HP:0001315 Reduced tendon reflexes ORPHANET:1466 ERCC1 2067 HP:0000505 Visual impairment ORPHANET:1466 ERCC1 2067 HP:0001250 Seizures ORPHANET:1466 ERCC1 2067 HP:0001276 Hypertonia ORPHANET:1466 ERCC1 2067 HP:0001883 Talipes ORPHANET:1466 ERCC1 2067 HP:0100490 Camptodactyly of finger ORPHANET:1466 ERCC1 2067 HP:0001511 Intrauterine growth retardation ORPHANET:1466 ERCC1 2067 HP:0002120 Cerebral cortical atrophy ORPHANET:1466 ERCC1 2067 HP:0000470 Short neck ORPHANET:1466 ERCC1 2067 HP:0000233 Thin vermilion border ORPHANET:1466 ERCC1 2067 HP:0005487 Prominent metopic ridge ORPHANET:1466 ERCC1 2067 HP:0000347 Micrognathia ORPHANET:1466 ERCC1 2067 HP:0002804 Arthrogryposis multiplex congenita ORPHANET:1466 ERCC1 2067 HP:0000078 Abnormality of the genital system ORPHANET:1466 ERCC1 2067 HP:0000232 Everted lower lip vermilion ORPHANET:1466 ERCC1 2067 HP:0000518 Cataract ORPHANET:1466 ERCC1 2067 HP:0000992 Cutaneous photosensitivity ORPHANET:1466 ERCC1 2067 HP:0100543 Cognitive impairment ORPHANET:1466 ERCC1 2067 HP:0001252 Muscular hypotonia ORPHANET:1466 ERCC1 2067 HP:0007703 Abnormal retinal pigmentation ORPHANET:1466 ERCC1 2067 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:1466 ERCC1 2067 HP:0000252 Microcephaly ORPHANET:1466 ERCC1 2067 HP:0009830 Peripheral neuropathy ORPHANET:1466 ERCC1 2067 HP:0002514 Cerebral calcification ORPHANET:1466 ERCC1 2067 HP:0000431 Wide nasal bridge ORPHANET:1466 ERCC1 2067 HP:0005105 Abnormal nasal morphology ORPHANET:1466 ERCC1 2067 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:1466 ERCC1 2067 HP:0001376 Limitation of joint mobility ORPHANET:1466 ERCC2 2068 HP:0000648 Optic atrophy ORPHANET:1466 ERCC2 2068 HP:0004322 Short stature ORPHANET:1466 ERCC2 2068 HP:0010978 Abnormality of immune system physiology ORPHANET:1466 ERCC2 2068 HP:0000365 Hearing impairment ORPHANET:1466 ERCC2 2068 HP:0001315 Reduced tendon reflexes ORPHANET:1466 ERCC2 2068 HP:0000505 Visual impairment ORPHANET:1466 ERCC2 2068 HP:0001250 Seizures ORPHANET:1466 ERCC2 2068 HP:0001276 Hypertonia ORPHANET:1466 ERCC2 2068 HP:0001883 Talipes ORPHANET:1466 ERCC2 2068 HP:0100490 Camptodactyly of finger ORPHANET:1466 ERCC2 2068 HP:0001511 Intrauterine growth retardation ORPHANET:1466 ERCC2 2068 HP:0002120 Cerebral cortical atrophy ORPHANET:1466 ERCC2 2068 HP:0000470 Short neck ORPHANET:1466 ERCC2 2068 HP:0000233 Thin vermilion border ORPHANET:1466 ERCC2 2068 HP:0005487 Prominent metopic ridge ORPHANET:1466 ERCC2 2068 HP:0000347 Micrognathia ORPHANET:1466 ERCC2 2068 HP:0002804 Arthrogryposis multiplex congenita ORPHANET:1466 ERCC2 2068 HP:0000078 Abnormality of the genital system ORPHANET:1466 ERCC2 2068 HP:0000232 Everted lower lip vermilion ORPHANET:1466 ERCC2 2068 HP:0000518 Cataract ORPHANET:1466 ERCC2 2068 HP:0000992 Cutaneous photosensitivity ORPHANET:1466 ERCC2 2068 HP:0100543 Cognitive impairment ORPHANET:1466 ERCC2 2068 HP:0001252 Muscular hypotonia ORPHANET:1466 ERCC2 2068 HP:0007703 Abnormal retinal pigmentation ORPHANET:1466 ERCC2 2068 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:1466 ERCC2 2068 HP:0000252 Microcephaly ORPHANET:1466 ERCC2 2068 HP:0009830 Peripheral neuropathy ORPHANET:1466 ERCC2 2068 HP:0002514 Cerebral calcification ORPHANET:1466 ERCC2 2068 HP:0000431 Wide nasal bridge ORPHANET:1466 ERCC2 2068 HP:0005105 Abnormal nasal morphology ORPHANET:1466 ERCC2 2068 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:1466 ERCC2 2068 HP:0001376 Limitation of joint mobility ORPHANET:1466 ERCC5 2073 HP:0000648 Optic atrophy ORPHANET:1466 ERCC5 2073 HP:0004322 Short stature ORPHANET:1466 ERCC5 2073 HP:0010978 Abnormality of immune system physiology ORPHANET:1466 ERCC5 2073 HP:0000365 Hearing impairment ORPHANET:1466 ERCC5 2073 HP:0001315 Reduced tendon reflexes ORPHANET:1466 ERCC5 2073 HP:0000505 Visual impairment ORPHANET:1466 ERCC5 2073 HP:0001250 Seizures ORPHANET:1466 ERCC5 2073 HP:0001276 Hypertonia ORPHANET:1466 ERCC5 2073 HP:0001883 Talipes ORPHANET:1466 ERCC5 2073 HP:0100490 Camptodactyly of finger ORPHANET:1466 ERCC5 2073 HP:0001511 Intrauterine growth retardation ORPHANET:1466 ERCC5 2073 HP:0002120 Cerebral cortical atrophy ORPHANET:1466 ERCC5 2073 HP:0000470 Short neck ORPHANET:1466 ERCC5 2073 HP:0000233 Thin vermilion border ORPHANET:1466 ERCC5 2073 HP:0005487 Prominent metopic ridge ORPHANET:1466 ERCC5 2073 HP:0000347 Micrognathia ORPHANET:1466 ERCC5 2073 HP:0002804 Arthrogryposis multiplex congenita ORPHANET:1466 ERCC5 2073 HP:0000078 Abnormality of the genital system ORPHANET:1466 ERCC5 2073 HP:0000232 Everted lower lip vermilion ORPHANET:1466 ERCC5 2073 HP:0000518 Cataract ORPHANET:1466 ERCC5 2073 HP:0000992 Cutaneous photosensitivity ORPHANET:1466 ERCC5 2073 HP:0100543 Cognitive impairment ORPHANET:1466 ERCC5 2073 HP:0001252 Muscular hypotonia ORPHANET:1466 ERCC5 2073 HP:0007703 Abnormal retinal pigmentation ORPHANET:1466 ERCC5 2073 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:1466 ERCC5 2073 HP:0000252 Microcephaly ORPHANET:1466 ERCC5 2073 HP:0009830 Peripheral neuropathy ORPHANET:1466 ERCC5 2073 HP:0002514 Cerebral calcification ORPHANET:1466 ERCC5 2073 HP:0000431 Wide nasal bridge ORPHANET:1466 ERCC5 2073 HP:0005105 Abnormal nasal morphology ORPHANET:1466 ERCC5 2073 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:1466 ERCC5 2073 HP:0001376 Limitation of joint mobility ORPHANET:1466 ERCC6 2074 HP:0000648 Optic atrophy ORPHANET:1466 ERCC6 2074 HP:0004322 Short stature ORPHANET:1466 ERCC6 2074 HP:0010978 Abnormality of immune system physiology ORPHANET:1466 ERCC6 2074 HP:0000365 Hearing impairment ORPHANET:1466 ERCC6 2074 HP:0001315 Reduced tendon reflexes ORPHANET:1466 ERCC6 2074 HP:0000505 Visual impairment ORPHANET:1466 ERCC6 2074 HP:0001250 Seizures ORPHANET:1466 ERCC6 2074 HP:0001276 Hypertonia ORPHANET:1466 ERCC6 2074 HP:0001883 Talipes ORPHANET:1466 ERCC6 2074 HP:0100490 Camptodactyly of finger ORPHANET:1466 ERCC6 2074 HP:0001511 Intrauterine growth retardation ORPHANET:1466 ERCC6 2074 HP:0002120 Cerebral cortical atrophy ORPHANET:1466 ERCC6 2074 HP:0000470 Short neck ORPHANET:1466 ERCC6 2074 HP:0000233 Thin vermilion border ORPHANET:1466 ERCC6 2074 HP:0005487 Prominent metopic ridge ORPHANET:1466 ERCC6 2074 HP:0000347 Micrognathia ORPHANET:1466 ERCC6 2074 HP:0002804 Arthrogryposis multiplex congenita ORPHANET:1466 ERCC6 2074 HP:0000078 Abnormality of the genital system ORPHANET:1466 ERCC6 2074 HP:0000232 Everted lower lip vermilion ORPHANET:1466 ERCC6 2074 HP:0000518 Cataract ORPHANET:1466 ERCC6 2074 HP:0000992 Cutaneous photosensitivity ORPHANET:1466 ERCC6 2074 HP:0100543 Cognitive impairment ORPHANET:1466 ERCC6 2074 HP:0001252 Muscular hypotonia ORPHANET:1466 ERCC6 2074 HP:0007703 Abnormal retinal pigmentation ORPHANET:1466 ERCC6 2074 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:1466 ERCC6 2074 HP:0000252 Microcephaly ORPHANET:1466 ERCC6 2074 HP:0009830 Peripheral neuropathy ORPHANET:1466 ERCC6 2074 HP:0002514 Cerebral calcification ORPHANET:1466 ERCC6 2074 HP:0000431 Wide nasal bridge ORPHANET:1466 ERCC6 2074 HP:0005105 Abnormal nasal morphology ORPHANET:1466 ERCC6 2074 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:1466 ERCC6 2074 HP:0001376 Limitation of joint mobility OMIM:144700 DIRC2 84925 HP:0005584 Renal cell carcinoma OMIM:144700 DIRC2 84925 HP:0003745 Sporadic OMIM:144700 FLCN 201163 HP:0005584 Renal cell carcinoma OMIM:144700 FLCN 201163 HP:0003745 Sporadic OMIM:144700 HNF1A 6927 HP:0005584 Renal cell carcinoma OMIM:144700 HNF1A 6927 HP:0003745 Sporadic OMIM:144700 OGG1 4968 HP:0005584 Renal cell carcinoma OMIM:144700 OGG1 4968 HP:0003745 Sporadic OMIM:144700 RNF139 11236 HP:0005584 Renal cell carcinoma OMIM:144700 RNF139 11236 HP:0003745 Sporadic OMIM:144700 VHL 7428 HP:0005584 Renal cell carcinoma OMIM:144700 VHL 7428 HP:0003745 Sporadic OMIM:300244 FLNA 2316 HP:0000369 Low-set ears OMIM:300244 FLNA 2316 HP:0004987 Mesomelic leg shortening OMIM:300244 FLNA 2316 HP:0010675 Abnormal foot bone ossification OMIM:300244 FLNA 2316 HP:0000272 Malar flattening OMIM:300244 FLNA 2316 HP:0000190 Abnormality of oral frenula OMIM:300244 FLNA 2316 HP:0000508 Ptosis OMIM:300244 FLNA 2316 HP:0000316 Hypertelorism OMIM:300244 FLNA 2316 HP:0010614 Fibroma OMIM:300244 FLNA 2316 HP:0002828 Multiple joint contractures OMIM:300244 FLNA 2316 HP:0011355 Localized skin lesion OMIM:300244 FLNA 2316 HP:0001831 Short toe OMIM:300244 FLNA 2316 HP:0001863 Toe clinodactyly OMIM:300244 FLNA 2316 HP:0001156 Brachydactyly syndrome OMIM:300244 FLNA 2316 HP:0005011 Mesomelic arm shortening OMIM:300244 FLNA 2316 HP:0100490 Camptodactyly of finger OMIM:300244 FLNA 2316 HP:0005921 Abnormal ossification of hand bones OMIM:300244 FLNA 2316 HP:0000612 Iris coloboma OMIM:300244 FLNA 2316 HP:0001000 Abnormality of skin pigmentation OMIM:300244 FLNA 2316 HP:0001836 Camptodactyly of toe OMIM:228550 PDGFRB 5159 HP:0000006 Autosomal dominant inheritance OMIM:228550 PDGFRB 5159 HP:0003549 Abnormality of connective tissue OMIM:228550 PDGFRB 5159 HP:0010614 Fibroma OMIM:608996 FOXL2 668 HP:0008209 Premature ovarian failure OMIM:608996 FOXL2 668 HP:0000006 Autosomal dominant inheritance OMIM:613736 PSENEN 55851 HP:0100838 Recurrent cutaneous abscess formation OMIM:613736 PSENEN 55851 HP:0012322 Perifolliculitis OMIM:613736 PSENEN 55851 HP:0011132 Chronic furunculosis OMIM:300850 DLG3 1741 HP:0000750 Delayed speech and language development OMIM:300850 DLG3 1741 HP:0000486 Strabismus OMIM:300850 DLG3 1741 HP:0001250 Seizures OMIM:300850 DLG3 1741 HP:0000582 Upslanted palpebral fissure OMIM:300850 DLG3 1741 HP:0001252 Muscular hypotonia OMIM:300850 DLG3 1741 HP:0000218 High palate OMIM:300850 DLG3 1741 HP:0000805 Enuresis OMIM:300850 DLG3 1741 HP:0000774 Narrow chest OMIM:300850 DLG3 1741 HP:0001417 X-linked inheritance OMIM:300850 DLG3 1741 HP:0001263 Global developmental delay OMIM:300850 DLG3 1741 HP:0001249 Intellectual disability OMIM:300850 DLG3 1741 HP:0000708 Behavioral abnormality OMIM:616219 COL25A1 84570 HP:0000508 Ptosis OMIM:613485 KCNJ5 3762 HP:0002204 Pulmonary embolism OMIM:613485 KCNJ5 3762 HP:0000006 Autosomal dominant inheritance OMIM:613485 KCNJ5 3762 HP:0001279 Syncope OMIM:613485 KCNJ5 3762 HP:0001635 Congestive heart failure OMIM:613485 KCNJ5 3762 HP:0001657 Prolonged QT interval OMIM:613485 KCNJ5 3762 HP:0004757 Paroxysmal atrial fibrillation OMIM:613485 KCNJ5 3762 HP:0001695 Cardiac arrest OMIM:613485 KCNJ5 3762 HP:0000822 Hypertension OMIM:613485 KCNJ5 3762 HP:0001678 Atrioventricular block OMIM:613485 KCNJ5 3762 HP:0001677 Coronary artery disease OMIM:614265 ACSF3 197322 HP:0001993 Ketoacidosis OMIM:614265 ACSF3 197322 HP:0002014 Diarrhea OMIM:614265 ACSF3 197322 HP:0001944 Dehydration OMIM:614265 ACSF3 197322 HP:0001508 Failure to thrive OMIM:614265 ACSF3 197322 HP:0012120 Methylmalonic aciduria OMIM:614265 ACSF3 197322 HP:0002013 Vomiting OMIM:614265 ACSF3 197322 HP:0001263 Global developmental delay OMIM:614265 ACSF3 197322 HP:0011169 Generalized clonic seizures OMIM:614265 ACSF3 197322 HP:0000007 Autosomal recessive inheritance OMIM:601277 ABCA12 26154 HP:0000656 Ectropion OMIM:601277 ABCA12 26154 HP:0001438 Abnormality of the abdomen OMIM:601277 ABCA12 26154 HP:0000982 Palmoplantar keratoderma OMIM:601277 ABCA12 26154 HP:0000707 Abnormality of the nervous system OMIM:601277 ABCA12 26154 HP:0000007 Autosomal recessive inheritance OMIM:601277 ABCA12 26154 HP:0001820 Leukonychia OMIM:601277 ABCA12 26154 HP:0001217 Clubbing OMIM:601277 ABCA12 26154 HP:0007431 Congenital ichthyosiform erythroderma OMIM:115700 CRYGD 1421 HP:0000519 Congenital cataract OMIM:115700 CRYGD 1421 HP:0000006 Autosomal dominant inheritance OMIM:614500 C8ORF37 157657 HP:0100259 Postaxial polydactyly OMIM:614500 C8ORF37 157657 HP:0000510 Retinitis pigmentosa OMIM:614500 C8ORF37 157657 HP:0000543 Optic disc pallor OMIM:614500 C8ORF37 157657 HP:0000548 Cone-rod dystrophy OMIM:614500 C8ORF37 157657 HP:0000007 Autosomal recessive inheritance OMIM:615885 RPL21 6144 HP:0001006 Hypotrichosis OMIM:615885 RPL21 6144 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:615885 RPL21 6144 HP:0200102 Sparse or absent eyelashes OMIM:615512 TPI1 7167 HP:0000952 Jaundice OMIM:615512 TPI1 7167 HP:0003202 Skeletal muscle atrophy OMIM:615512 TPI1 7167 HP:0001252 Muscular hypotonia OMIM:615512 TPI1 7167 HP:0001878 Hemolytic anemia OMIM:615512 TPI1 7167 HP:0000762 Decreased nerve conduction velocity OMIM:615512 TPI1 7167 HP:0001332 Dystonia OMIM:615512 TPI1 7167 HP:0001265 Hyporeflexia OMIM:615512 TPI1 7167 HP:0000776 Congenital diaphragmatic hernia OMIM:615512 TPI1 7167 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:615512 TPI1 7167 HP:0001337 Tremor OMIM:615512 TPI1 7167 HP:0001635 Congestive heart failure OMIM:615512 TPI1 7167 HP:0009830 Peripheral neuropathy OMIM:615512 TPI1 7167 HP:0002317 Unsteady gait OMIM:615512 TPI1 7167 HP:0001257 Spasticity OMIM:615512 TPI1 7167 HP:0003198 Myopathy OMIM:615512 TPI1 7167 HP:0001081 Cholelithiasis OMIM:615512 TPI1 7167 HP:0000543 Optic disc pallor OMIM:615512 TPI1 7167 HP:0001744 Splenomegaly OMIM:615512 TPI1 7167 HP:0001082 Cholecystitis OMIM:615512 TPI1 7167 HP:0001263 Global developmental delay OMIM:615512 TPI1 7167 HP:0001639 Hypertrophic cardiomyopathy OMIM:615512 TPI1 7167 HP:0001895 Normochromic anemia OMIM:615512 TPI1 7167 HP:0010978 Abnormality of immune system physiology OMIM:615512 TPI1 7167 HP:0002808 Kyphosis OMIM:615512 TPI1 7167 HP:0001897 Normocytic anemia OMIM:606693 ATP13A2 23400 HP:0000726 Dementia OMIM:606693 ATP13A2 23400 HP:0001347 Hyperreflexia OMIM:606693 ATP13A2 23400 HP:0002385 Paraparesis OMIM:606693 ATP13A2 23400 HP:0000718 Aggressive behavior OMIM:606693 ATP13A2 23400 HP:0003487 Babinski sign OMIM:606693 ATP13A2 23400 HP:0001336 Myoclonus OMIM:606693 ATP13A2 23400 HP:0000298 Mask-like facies OMIM:606693 ATP13A2 23400 HP:0000514 Slow saccadic eye movements OMIM:606693 ATP13A2 23400 HP:0002375 Hypokinesia OMIM:606693 ATP13A2 23400 HP:0001250 Seizures OMIM:606693 ATP13A2 23400 HP:0002425 Anarthria OMIM:606693 ATP13A2 23400 HP:0000458 Anosmia OMIM:606693 ATP13A2 23400 HP:0002548 Parkinsonism with favorable response to dopaminergic medication OMIM:606693 ATP13A2 23400 HP:0002063 Rigidity OMIM:606693 ATP13A2 23400 HP:0000725 Psychotic episodes OMIM:606693 ATP13A2 23400 HP:0001257 Spasticity OMIM:606693 ATP13A2 23400 HP:0004409 Hyposmia OMIM:606693 ATP13A2 23400 HP:0001300 Parkinsonism OMIM:606693 ATP13A2 23400 HP:0000473 Torticollis OMIM:606693 ATP13A2 23400 HP:0000605 Supranuclear gaze palsy OMIM:606693 ATP13A2 23400 HP:0000738 Hallucinations OMIM:606693 ATP13A2 23400 HP:0003678 Rapidly progressive OMIM:606693 ATP13A2 23400 HP:0002304 Akinesia OMIM:606693 ATP13A2 23400 HP:0000007 Autosomal recessive inheritance OMIM:606693 ATP13A2 23400 HP:0002936 Distal sensory impairment OMIM:606693 ATP13A2 23400 HP:0002172 Postural instability OMIM:607745 SCN2A 6326 HP:0007359 Focal seizures OMIM:607745 SCN2A 6326 HP:0007334 Bilateral convulsive seizures OMIM:607745 SCN2A 6326 HP:0000961 Cyanosis OMIM:607745 SCN2A 6326 HP:0011146 Dialeptic seizures OMIM:607745 SCN2A 6326 HP:0002372 Normal interictal EEG OMIM:607745 SCN2A 6326 HP:0000006 Autosomal dominant inheritance OMIM:205950 SLC25A38 54977 HP:0003281 Increased serum ferritin OMIM:205950 SLC25A38 54977 HP:0001903 Anemia OMIM:205950 SLC25A38 54977 HP:0000007 Autosomal recessive inheritance OMIM:205950 SLC25A38 54977 HP:0001425 Heterogeneous OMIM:205950 SLC25A38 54977 HP:0003593 Infantile onset OMIM:205950 GLRX5 51218 HP:0003281 Increased serum ferritin OMIM:205950 GLRX5 51218 HP:0001903 Anemia OMIM:205950 GLRX5 51218 HP:0000007 Autosomal recessive inheritance OMIM:205950 GLRX5 51218 HP:0001425 Heterogeneous OMIM:205950 GLRX5 51218 HP:0003593 Infantile onset OMIM:242840 EPG5 57724 HP:0002269 Abnormality of neuronal migration OMIM:242840 EPG5 57724 HP:0003198 Myopathy OMIM:242840 EPG5 57724 HP:0001022 Albinism OMIM:242840 EPG5 57724 HP:0000639 Nystagmus OMIM:242840 EPG5 57724 HP:0005374 Cellular immunodeficiency OMIM:242840 EPG5 57724 HP:0003244 Penile hypospadias OMIM:242840 EPG5 57724 HP:0001270 Motor delay OMIM:242840 EPG5 57724 HP:0001103 Abnormality of the macula OMIM:242840 EPG5 57724 HP:0001941 Acidosis OMIM:242840 EPG5 57724 HP:0000601 Hypotelorism OMIM:242840 EPG5 57724 HP:0001320 Cerebellar vermis hypoplasia OMIM:242840 EPG5 57724 HP:0001508 Failure to thrive OMIM:242840 EPG5 57724 HP:0001644 Dilated cardiomyopathy OMIM:242840 EPG5 57724 HP:0002841 Recurrent fungal infections OMIM:242840 EPG5 57724 HP:0004322 Short stature OMIM:242840 EPG5 57724 HP:0001252 Muscular hypotonia OMIM:242840 EPG5 57724 HP:0001263 Global developmental delay OMIM:242840 EPG5 57724 HP:0001635 Congestive heart failure OMIM:242840 EPG5 57724 HP:0002360 Sleep disturbance OMIM:242840 EPG5 57724 HP:0000174 Abnormality of the palate OMIM:242840 EPG5 57724 HP:0000204 Cleft upper lip OMIM:242840 EPG5 57724 HP:0002120 Cerebral cortical atrophy OMIM:242840 EPG5 57724 HP:0002353 EEG abnormality OMIM:242840 EPG5 57724 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:242840 EPG5 57724 HP:0001107 Ocular albinism OMIM:242840 EPG5 57724 HP:0000518 Cataract OMIM:242840 EPG5 57724 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:242840 EPG5 57724 HP:0000519 Congenital cataract OMIM:242840 EPG5 57724 HP:0000175 Cleft palate OMIM:242840 EPG5 57724 HP:0007314 White matter neuronal heterotopia OMIM:242840 EPG5 57724 HP:0007513 Generalized hypopigmentation OMIM:242840 EPG5 57724 HP:0000347 Micrognathia OMIM:242840 EPG5 57724 HP:0005599 Hypopigmentation of hair OMIM:242840 EPG5 57724 HP:0007894 Hypopigmentation of the fundus OMIM:242840 EPG5 57724 HP:0001376 Limitation of joint mobility OMIM:242840 EPG5 57724 HP:0004315 IgG deficiency OMIM:242840 EPG5 57724 HP:0002533 Abnormal posturing OMIM:242840 EPG5 57724 HP:0000091 Abnormality of the renal tubule OMIM:242840 EPG5 57724 HP:0000648 Optic atrophy OMIM:242840 EPG5 57724 HP:0003577 Congenital onset OMIM:242840 EPG5 57724 HP:0004429 Recurrent viral infections OMIM:242840 EPG5 57724 HP:0002965 Cutaneous anergy OMIM:242840 EPG5 57724 HP:0000407 Sensorineural hearing impairment OMIM:242840 EPG5 57724 HP:0001250 Seizures OMIM:242840 EPG5 57724 HP:0001712 Left ventricular hypertrophy OMIM:242840 EPG5 57724 HP:0000252 Microcephaly OMIM:242840 EPG5 57724 HP:0000369 Low-set ears OMIM:242840 EPG5 57724 HP:0000007 Autosomal recessive inheritance OMIM:242840 EPG5 57724 HP:0007703 Abnormal retinal pigmentation OMIM:242840 EPG5 57724 HP:0008348 Immunoglobulin IgG2 deficiency OMIM:242840 EPG5 57724 HP:0002205 Recurrent respiratory infections OMIM:242840 EPG5 57724 HP:0001510 Growth delay OMIM:242840 EPG5 57724 HP:0005419 Decreased T cell activation OMIM:242840 EPG5 57724 HP:0010636 Schizencephaly OMIM:242840 EPG5 57724 HP:0002728 Chronic mucocutaneous candidiasis OMIM:242840 EPG5 57724 HP:0001639 Hypertrophic cardiomyopathy OMIM:242840 EPG5 57724 HP:0001274 Agenesis of corpus callosum OMIM:242840 EPG5 57724 HP:0000316 Hypertelorism OMIM:242840 EPG5 57724 HP:0100543 Cognitive impairment OMIM:242840 EPG5 57724 HP:0002718 Recurrent bacterial infections OMIM:242840 EPG5 57724 HP:0005407 Decreased number of CD4+ T cells OMIM:242840 EPG5 57724 HP:0000777 Abnormality of the thymus ORPHANET:256 TOR1A 1861 HP:0001276 Hypertonia ORPHANET:256 TOR1A 1861 HP:0001288 Gait disturbance ORPHANET:256 TOR1A 1861 HP:0001608 Abnormality of the voice OMIM:300915 HMGB3 3149 HP:0000589 Coloboma OMIM:300915 HMGB3 3149 HP:0000377 Abnormality of the pinna OMIM:300915 HMGB3 3149 HP:0004322 Short stature OMIM:300915 HMGB3 3149 HP:0001263 Global developmental delay OMIM:300915 HMGB3 3149 HP:0000252 Microcephaly OMIM:300915 HMGB3 3149 HP:0000565 Esotropia OMIM:300915 HMGB3 3149 HP:0002751 Kyphoscoliosis OMIM:300915 HMGB3 3149 HP:0001417 X-linked inheritance OMIM:300915 HMGB3 3149 HP:0000508 Ptosis OMIM:300915 HMGB3 3149 HP:0012043 Pendular nystagmus OMIM:300915 HMGB3 3149 HP:0001249 Intellectual disability OMIM:300915 HMGB3 3149 HP:0040080 Anteverted ears OMIM:300915 HMGB3 3149 HP:0000568 Microphthalmos OMIM:300915 HMGB3 3149 HP:0000482 Microcornea OMIM:607476 RLBP1 6017 HP:0000551 Abnormality of color vision OMIM:607476 RLBP1 6017 HP:0000007 Autosomal recessive inheritance OMIM:607476 RLBP1 6017 HP:0000575 Scotoma OMIM:607476 RLBP1 6017 HP:0000505 Visual impairment OMIM:607476 RLBP1 6017 HP:0000556 Retinal dystrophy OMIM:607476 RLBP1 6017 HP:0000662 Night blindness OMIM:245480 CEBPE 1053 HP:0012551 Absent neutrophil specific granules OMIM:245480 CEBPE 1053 HP:0000007 Autosomal recessive inheritance OMIM:245480 CEBPE 1053 HP:0011447 Hyposegmentation of neutrophil nuclei OMIM:245480 CEBPE 1053 HP:0002719 Recurrent infections OMIM:614465 TMEM138 51524 HP:0002084 Encephalocele OMIM:614465 TMEM138 51524 HP:0000589 Coloboma OMIM:614465 TMEM138 51524 HP:0000657 Oculomotor apraxia OMIM:614465 TMEM138 51524 HP:0000090 Nephronophthisis OMIM:614465 TMEM138 51524 HP:0002419 Molar tooth sign on MRI OMIM:614465 TMEM138 51524 HP:0000107 Renal cyst OMIM:614465 TMEM138 51524 HP:0000007 Autosomal recessive inheritance OMIM:614465 TMEM138 51524 HP:0001305 Dandy-Walker malformation OMIM:614465 TMEM138 51524 HP:0010442 Polydactyly OMIM:614465 TMEM138 51524 HP:0000556 Retinal dystrophy OMIM:601071 OTOF 9381 HP:0008529 Absence of acoustic reflex OMIM:601071 OTOF 9381 HP:0000007 Autosomal recessive inheritance OMIM:601071 OTOF 9381 HP:0004463 Absent brainstem auditory responses OMIM:601071 OTOF 9381 HP:0000407 Sensorineural hearing impairment ORPHANET:85408 ANKRD55 79722 HP:0001369 Arthritis ORPHANET:85408 ANKRD55 79722 HP:0001376 Limitation of joint mobility ORPHANET:85408 ANKRD55 79722 HP:0000164 Abnormality of the teeth ORPHANET:85408 ANKRD55 79722 HP:0002960 Autoimmunity ORPHANET:85408 ANKRD55 79722 HP:0001386 Joint swelling ORPHANET:85408 ANKRD55 79722 HP:0002829 Arthralgia ORPHANET:85408 PTPN22 26191 HP:0001369 Arthritis ORPHANET:85408 PTPN22 26191 HP:0001376 Limitation of joint mobility ORPHANET:85408 PTPN22 26191 HP:0000164 Abnormality of the teeth ORPHANET:85408 PTPN22 26191 HP:0002960 Autoimmunity ORPHANET:85408 PTPN22 26191 HP:0001386 Joint swelling ORPHANET:85408 PTPN22 26191 HP:0002829 Arthralgia ORPHANET:85408 TYK2 7297 HP:0001369 Arthritis ORPHANET:85408 TYK2 7297 HP:0001376 Limitation of joint mobility ORPHANET:85408 TYK2 7297 HP:0000164 Abnormality of the teeth ORPHANET:85408 TYK2 7297 HP:0002960 Autoimmunity ORPHANET:85408 TYK2 7297 HP:0001386 Joint swelling ORPHANET:85408 TYK2 7297 HP:0002829 Arthralgia ORPHANET:85408 IL2RA 3559 HP:0001369 Arthritis ORPHANET:85408 IL2RA 3559 HP:0001376 Limitation of joint mobility ORPHANET:85408 IL2RA 3559 HP:0000164 Abnormality of the teeth ORPHANET:85408 IL2RA 3559 HP:0002960 Autoimmunity ORPHANET:85408 IL2RA 3559 HP:0001386 Joint swelling ORPHANET:85408 IL2RA 3559 HP:0002829 Arthralgia ORPHANET:85408 STAT4 6775 HP:0001369 Arthritis ORPHANET:85408 STAT4 6775 HP:0001376 Limitation of joint mobility ORPHANET:85408 STAT4 6775 HP:0000164 Abnormality of the teeth ORPHANET:85408 STAT4 6775 HP:0002960 Autoimmunity ORPHANET:85408 STAT4 6775 HP:0001386 Joint swelling ORPHANET:85408 STAT4 6775 HP:0002829 Arthralgia ORPHANET:85408 FAS 355 HP:0001369 Arthritis ORPHANET:85408 FAS 355 HP:0001376 Limitation of joint mobility ORPHANET:85408 FAS 355 HP:0000164 Abnormality of the teeth ORPHANET:85408 FAS 355 HP:0002960 Autoimmunity ORPHANET:85408 FAS 355 HP:0001386 Joint swelling ORPHANET:85408 FAS 355 HP:0002829 Arthralgia ORPHANET:85408 CD247 919 HP:0001369 Arthritis ORPHANET:85408 CD247 919 HP:0001376 Limitation of joint mobility ORPHANET:85408 CD247 919 HP:0000164 Abnormality of the teeth ORPHANET:85408 CD247 919 HP:0002960 Autoimmunity ORPHANET:85408 CD247 919 HP:0001386 Joint swelling ORPHANET:85408 CD247 919 HP:0002829 Arthralgia ORPHANET:85408 IL2RB 3560 HP:0001369 Arthritis ORPHANET:85408 IL2RB 3560 HP:0001376 Limitation of joint mobility ORPHANET:85408 IL2RB 3560 HP:0000164 Abnormality of the teeth ORPHANET:85408 IL2RB 3560 HP:0002960 Autoimmunity ORPHANET:85408 IL2RB 3560 HP:0001386 Joint swelling ORPHANET:85408 IL2RB 3560 HP:0002829 Arthralgia ORPHANET:85408 PTPN2 5771 HP:0001369 Arthritis ORPHANET:85408 PTPN2 5771 HP:0001376 Limitation of joint mobility ORPHANET:85408 PTPN2 5771 HP:0000164 Abnormality of the teeth ORPHANET:85408 PTPN2 5771 HP:0002960 Autoimmunity ORPHANET:85408 PTPN2 5771 HP:0001386 Joint swelling ORPHANET:85408 PTPN2 5771 HP:0002829 Arthralgia OMIM:608133 PRPH2 5961 HP:0000006 Autosomal dominant inheritance OMIM:608133 PRPH2 5961 HP:0001150 Choroidal sclerosis OMIM:608133 PRPH2 5961 HP:0007830 Adult-onset night blindness OMIM:608133 PRPH2 5961 HP:0001133 Constricted visual fields OMIM:608133 PRPH2 5961 HP:0000510 Retinitis pigmentosa OMIM:608133 PRPH2 5961 HP:0000512 Abnormal electroretinogram OMIM:608133 PRPH2 5961 HP:0001146 Pigmentary retinal degeneration OMIM:608133 PRPH2 5961 HP:0007994 Peripheral visual field loss OMIM:608133 ROM1 6094 HP:0000006 Autosomal dominant inheritance OMIM:608133 ROM1 6094 HP:0001150 Choroidal sclerosis OMIM:608133 ROM1 6094 HP:0007830 Adult-onset night blindness OMIM:608133 ROM1 6094 HP:0001133 Constricted visual fields OMIM:608133 ROM1 6094 HP:0000510 Retinitis pigmentosa OMIM:608133 ROM1 6094 HP:0000512 Abnormal electroretinogram OMIM:608133 ROM1 6094 HP:0001146 Pigmentary retinal degeneration OMIM:608133 ROM1 6094 HP:0007994 Peripheral visual field loss OMIM:614486 THBD 7056 HP:0100724 Hypercoagulability OMIM:614486 THBD 7056 HP:0002625 Deep venous thrombosis OMIM:615266 SPRY4 81848 HP:0000164 Abnormality of the teeth OMIM:615266 SPRY4 81848 HP:0000365 Hearing impairment OMIM:104290 ATP1A2 477 HP:0001249 Intellectual disability OMIM:104290 ATP1A2 477 HP:0000006 Autosomal dominant inheritance OMIM:104290 ATP1A2 477 HP:0200072 Episodic quadriplegia OMIM:104290 ATP1A2 477 HP:0001266 Choreoathetosis OMIM:104290 ATP1A2 477 HP:0002069 Generalized tonic-clonic seizures OMIM:104290 ATP1A2 477 HP:0012194 Episodic hemiplegia OMIM:104290 ATP1A2 477 HP:0001268 Mental deterioration OMIM:104290 ATP1A2 477 HP:0001332 Dystonia OMIM:104290 ATP1A2 477 HP:0000639 Nystagmus OMIM:262500 GHR 2690 HP:0000998 Hypertrichosis OMIM:262500 GHR 2690 HP:0008736 Hypoplasia of penis OMIM:262500 GHR 2690 HP:0001608 Abnormality of the voice OMIM:262500 GHR 2690 HP:0000347 Micrognathia OMIM:262500 GHR 2690 HP:0001831 Short toe OMIM:262500 GHR 2690 HP:0001620 High pitched voice OMIM:262500 GHR 2690 HP:0001367 Abnormal joint morphology OMIM:262500 GHR 2690 HP:0009804 Reduced number of teeth OMIM:262500 GHR 2690 HP:0000348 High forehead OMIM:262500 GHR 2690 HP:0001939 Abnormality of metabolism/homeostasis OMIM:262500 GHR 2690 HP:0000966 Hypohidrosis OMIM:262500 GHR 2690 HP:0002758 Osteoarthritis OMIM:262500 GHR 2690 HP:0003026 Short long bone OMIM:262500 GHR 2690 HP:0003510 Severe short stature OMIM:262500 GHR 2690 HP:0001943 Hypoglycemia OMIM:262500 GHR 2690 HP:0001999 Abnormal facial shape OMIM:262500 GHR 2690 HP:0100543 Cognitive impairment OMIM:262500 GHR 2690 HP:0001956 Truncal obesity OMIM:262500 GHR 2690 HP:0000691 Microdontia OMIM:262500 GHR 2690 HP:0002750 Delayed skeletal maturation OMIM:262500 GHR 2690 HP:0003119 Abnormality of lipid metabolism OMIM:262500 GHR 2690 HP:0000274 Small face OMIM:262500 GHR 2690 HP:0009924 Aplasia/Hypoplasia involving the nose OMIM:262500 GHR 2690 HP:0012569 Delayed menarche OMIM:262500 GHR 2690 HP:0007495 Prematurely aged appearance OMIM:262500 GHR 2690 HP:0000592 Blue sclerae OMIM:262500 GHR 2690 HP:0003202 Skeletal muscle atrophy OMIM:262500 GHR 2690 HP:0001156 Brachydactyly syndrome OMIM:262500 GHR 2690 HP:0009811 Abnormality of the elbow OMIM:262500 GHR 2690 HP:0009891 Underdeveloped supraorbital ridges OMIM:262500 GHR 2690 HP:0000684 Delayed eruption of teeth OMIM:262500 GHR 2690 HP:0000457 Depressed nasal ridge OMIM:262500 GHR 2690 HP:0000007 Autosomal recessive inheritance ORPHANET:444 EPS8L3 79574 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:444 EPS8L3 79574 HP:0002208 Coarse hair ORPHANET:444 EPS8L3 79574 HP:0000478 Abnormality of the eye ORPHANET:444 EPS8L3 79574 HP:0001596 Alopecia ORPHANET:444 HR 55806 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:444 HR 55806 HP:0002208 Coarse hair ORPHANET:444 HR 55806 HP:0000478 Abnormality of the eye ORPHANET:444 HR 55806 HP:0001596 Alopecia OMIM:615625 REEP2 51308 HP:0003677 Slow progression OMIM:615625 REEP2 51308 HP:0000006 Autosomal dominant inheritance OMIM:615625 REEP2 51308 HP:0000007 Autosomal recessive inheritance OMIM:615625 REEP2 51308 HP:0002839 Urinary bladder sphincter dysfunction OMIM:615625 REEP2 51308 HP:0003552 Muscle stiffness OMIM:615625 REEP2 51308 HP:0001347 Hyperreflexia OMIM:615625 REEP2 51308 HP:0003487 Babinski sign OMIM:615625 REEP2 51308 HP:0001258 Spastic paraplegia OMIM:615625 REEP2 51308 HP:0001761 Pes cavus OMIM:615625 REEP2 51308 HP:0002064 Spastic gait OMIM:251300 WDR73 84942 HP:0000400 Macrotia OMIM:251300 WDR73 84942 HP:0100543 Cognitive impairment OMIM:251300 WDR73 84942 HP:0000112 Nephropathy OMIM:251300 WDR73 84942 HP:0000568 Microphthalmos OMIM:251300 WDR73 84942 HP:0000093 Proteinuria OMIM:251300 WDR73 84942 HP:0001276 Hypertonia OMIM:251300 WDR73 84942 HP:0002059 Cerebral atrophy OMIM:251300 WDR73 84942 HP:0000164 Abnormality of the teeth OMIM:251300 WDR73 84942 HP:0000369 Low-set ears OMIM:251300 WDR73 84942 HP:0002353 EEG abnormality OMIM:251300 WDR73 84942 HP:0007759 Opacification of the corneal stroma OMIM:251300 WDR73 84942 HP:0010978 Abnormality of immune system physiology OMIM:251300 WDR73 84942 HP:0000097 Focal segmental glomerulosclerosis OMIM:251300 WDR73 84942 HP:0000100 Nephrotic syndrome OMIM:251300 WDR73 84942 HP:0001622 Premature birth OMIM:251300 WDR73 84942 HP:0000508 Ptosis OMIM:251300 WDR73 84942 HP:0004374 Hemiplegia/hemiparesis OMIM:251300 WDR73 84942 HP:0001238 Slender finger OMIM:251300 WDR73 84942 HP:0001249 Intellectual disability OMIM:251300 WDR73 84942 HP:0012385 Camptodactyly OMIM:251300 WDR73 84942 HP:0003073 Hypoalbuminemia OMIM:251300 WDR73 84942 HP:0001761 Pes cavus OMIM:251300 WDR73 84942 HP:0002036 Hiatus hernia OMIM:251300 WDR73 84942 HP:0100490 Camptodactyly of finger OMIM:251300 WDR73 84942 HP:0001181 Adducted thumb OMIM:251300 WDR73 84942 HP:0001511 Intrauterine growth retardation OMIM:251300 WDR73 84942 HP:0000518 Cataract OMIM:251300 WDR73 84942 HP:0000316 Hypertelorism OMIM:251300 WDR73 84942 HP:0001302 Pachygyria OMIM:251300 WDR73 84942 HP:0002079 Hypoplasia of the corpus callosum OMIM:251300 WDR73 84942 HP:0000347 Micrognathia OMIM:251300 WDR73 84942 HP:0001562 Oligohydramnios OMIM:251300 WDR73 84942 HP:0001272 Cerebellar atrophy OMIM:251300 WDR73 84942 HP:0000252 Microcephaly OMIM:251300 WDR73 84942 HP:0001263 Global developmental delay OMIM:251300 WDR73 84942 HP:0009473 Joint contracture of the hand OMIM:251300 WDR73 84942 HP:0001188 Hand clenching OMIM:251300 WDR73 84942 HP:0000286 Epicanthus OMIM:251300 WDR73 84942 HP:0001518 Small for gestational age OMIM:251300 WDR73 84942 HP:0000218 High palate OMIM:251300 WDR73 84942 HP:0002269 Abnormality of neuronal migration OMIM:251300 WDR73 84942 HP:0004322 Short stature OMIM:251300 WDR73 84942 HP:0002410 Aqueductal stenosis OMIM:251300 WDR73 84942 HP:0000418 Narrow nasal ridge OMIM:251300 WDR73 84942 HP:0001792 Small nail OMIM:251300 WDR73 84942 HP:0005469 Flat occiput OMIM:251300 WDR73 84942 HP:0001967 Diffuse mesangial sclerosis OMIM:251300 WDR73 84942 HP:0001250 Seizures OMIM:251300 WDR73 84942 HP:0000648 Optic atrophy OMIM:251300 WDR73 84942 HP:0001252 Muscular hypotonia OMIM:251300 WDR73 84942 HP:0005108 Abnormality of the intervertebral disk OMIM:251300 WDR73 84942 HP:0000601 Hypotelorism OMIM:251300 WDR73 84942 HP:0007676 Hypoplasia of the iris OMIM:251300 WDR73 84942 HP:0000007 Autosomal recessive inheritance OMIM:251300 WDR73 84942 HP:0100720 Hypoplasia of the ear cartilage OMIM:251300 WDR73 84942 HP:0003593 Infantile onset OMIM:251300 WDR73 84942 HP:0000340 Sloping forehead OMIM:613307 TPRN 286262 HP:0000750 Delayed speech and language development OMIM:613307 TPRN 286262 HP:0000407 Sensorineural hearing impairment OMIM:194071 H19 283120 HP:0000006 Autosomal dominant inheritance OMIM:194071 H19 283120 HP:0001428 Somatic mutation OMIM:194071 H19 283120 HP:0002667 Nephroblastoma (Wilms tumor) OMIM:614019 NDE1 54820 HP:0001263 Global developmental delay OMIM:614019 NDE1 54820 HP:0001339 Lissencephaly OMIM:614019 NDE1 54820 HP:0001276 Hypertonia OMIM:614019 NDE1 54820 HP:0000252 Microcephaly OMIM:614019 NDE1 54820 HP:0002187 Intellectual disability, profound OMIM:614019 NDE1 54820 HP:0003577 Congenital onset OMIM:614019 NDE1 54820 HP:0000007 Autosomal recessive inheritance OMIM:614019 NDE1 54820 HP:0001250 Seizures OMIM:614019 NDE1 54820 HP:0001274 Agenesis of corpus callosum OMIM:614019 NDE1 54820 HP:0009879 Cortical gyral simplification OMIM:614019 NDE1 54820 HP:0004322 Short stature OMIM:230800 GBA 2629 HP:0001645 Sudden cardiac death OMIM:230800 GBA 2629 HP:0002758 Osteoarthritis OMIM:230800 GBA 2629 HP:0002027 Abdominal pain OMIM:230800 GBA 2629 HP:0006775 Multiple myeloma OMIM:230800 GBA 2629 HP:0002092 Pulmonary hypertension OMIM:230800 GBA 2629 HP:0002113 Pulmonary infiltrates OMIM:230800 GBA 2629 HP:0001903 Anemia OMIM:230800 GBA 2629 HP:0000790 Hematuria OMIM:230800 GBA 2629 HP:0000078 Abnormality of the genital system OMIM:230800 GBA 2629 HP:0001873 Thrombocytopenia OMIM:230800 GBA 2629 HP:0001697 Abnormality of the pericardium OMIM:230800 GBA 2629 HP:0001637 Abnormality of the myocardium OMIM:230800 GBA 2629 HP:0002953 Vertebral compression fractures OMIM:230800 GBA 2629 HP:0002653 Bone pain OMIM:230800 GBA 2629 HP:0001971 Hypersplenism OMIM:230800 GBA 2629 HP:0002094 Dyspnea OMIM:230800 GBA 2629 HP:0002240 Hepatomegaly OMIM:230800 GBA 2629 HP:0001744 Splenomegaly OMIM:230800 GBA 2629 HP:0010885 Aseptic necrosis OMIM:230800 GBA 2629 HP:0000007 Autosomal recessive inheritance OMIM:230800 GBA 2629 HP:0002757 Recurrent fractures OMIM:230800 GBA 2629 HP:0010741 Edema of the lower limbs OMIM:230800 GBA 2629 HP:0010702 Hypergammaglobulinemia OMIM:230800 GBA 2629 HP:0001080 Biliary tract abnormality OMIM:230800 GBA 2629 HP:0001541 Ascites OMIM:230800 GBA 2629 HP:0002750 Delayed skeletal maturation OMIM:230800 GBA 2629 HP:0002797 Osteolysis OMIM:230800 GBA 2629 HP:0002808 Kyphosis OMIM:230800 GBA 2629 HP:0000978 Bruising susceptibility OMIM:230800 GBA 2629 HP:0011001 Increased bone mineral density OMIM:230800 GBA 2629 HP:0006530 Interstitial pulmonary disease OMIM:230800 GBA 2629 HP:0000421 Epistaxis OMIM:230800 GBA 2629 HP:0005528 Bone marrow hypocellularity OMIM:230800 GBA 2629 HP:0000225 Gingival bleeding OMIM:230800 GBA 2629 HP:0000953 Hyperpigmentation of the skin OMIM:230800 GBA 2629 HP:0004975 Erlenmeyer flask deformity of the femurs OMIM:230800 GBA 2629 HP:0001394 Cirrhosis OMIM:230800 GBA 2629 HP:0000093 Proteinuria OMIM:230800 GBA 2629 HP:0004349 Reduced bone mineral density OMIM:230800 GBA 2629 HP:0002091 Restrictive lung disease OMIM:230800 GBA 2629 HP:0001882 Leukopenia OMIM:230800 GBA 2629 HP:0000478 Abnormality of the eye OMIM:230800 GBA 2629 HP:0002756 Pathologic fracture OMIM:230800 GBA 2629 HP:0001876 Pancytopenia OMIM:615917 VARS2 57176 HP:0001252 Muscular hypotonia OMIM:615917 VARS2 57176 HP:0000508 Ptosis OMIM:615917 VARS2 57176 HP:0001251 Ataxia OMIM:615917 VARS2 57176 HP:0001263 Global developmental delay OMIM:615917 VARS2 57176 HP:0000590 Progressive external ophthalmoplegia OMIM:615917 VARS2 57176 HP:0000252 Microcephaly OMIM:615917 VARS2 57176 HP:0001250 Seizures OMIM:615917 VARS2 57176 HP:0001999 Abnormal facial shape OMIM:305000 DKC1 1736 HP:0000028 Cryptorchidism OMIM:305000 DKC1 1736 HP:0005212 Anal mucosal leukoplakia OMIM:305000 DKC1 1736 HP:0000648 Optic atrophy OMIM:305000 DKC1 1736 HP:0009926 Increased lacrimation OMIM:305000 DKC1 1736 HP:0004334 Dermal atrophy OMIM:305000 DKC1 1736 HP:0001321 Cerebellar hypoplasia OMIM:305000 DKC1 1736 HP:0001251 Ataxia OMIM:305000 DKC1 1736 HP:0001263 Global developmental delay OMIM:305000 DKC1 1736 HP:0002860 Squamous cell carcinoma OMIM:305000 DKC1 1736 HP:0008661 Urethral stenosis OMIM:305000 DKC1 1736 HP:0001419 X-linked recessive inheritance OMIM:305000 DKC1 1736 HP:0002043 Esophageal stricture OMIM:305000 DKC1 1736 HP:0006480 Premature loss of teeth OMIM:305000 DKC1 1736 HP:0005528 Bone marrow hypocellularity OMIM:305000 DKC1 1736 HP:0002863 Myelodysplasia OMIM:305000 DKC1 1736 HP:0008404 Nail dystrophy OMIM:305000 DKC1 1736 HP:0002206 Pulmonary fibrosis OMIM:305000 DKC1 1736 HP:0007427 Reticulated skin pigmentation OMIM:305000 DKC1 1736 HP:0002721 Immunodeficiency OMIM:305000 DKC1 1736 HP:0000498 Blepharitis OMIM:305000 DKC1 1736 HP:0004322 Short stature OMIM:305000 DKC1 1736 HP:0002165 Pterygium formation (nails) OMIM:305000 DKC1 1736 HP:0001903 Anemia OMIM:305000 DKC1 1736 HP:0001394 Cirrhosis OMIM:305000 DKC1 1736 HP:0000252 Microcephaly OMIM:305000 DKC1 1736 HP:0000486 Strabismus OMIM:305000 DKC1 1736 HP:0000509 Conjunctivitis OMIM:305000 DKC1 1736 HP:0000939 Osteoporosis OMIM:305000 DKC1 1736 HP:0001249 Intellectual disability OMIM:305000 DKC1 1736 HP:0001741 Phimosis OMIM:305000 DKC1 1736 HP:0008734 Decreased testicular size OMIM:305000 DKC1 1736 HP:0000047 Hypospadias OMIM:305000 DKC1 1736 HP:0002091 Restrictive lung disease OMIM:305000 DKC1 1736 HP:0012189 Hodgkin lymphoma OMIM:305000 DKC1 1736 HP:0002216 Premature graying of hair OMIM:305000 DKC1 1736 HP:0001873 Thrombocytopenia OMIM:305000 DKC1 1736 HP:0001809 Split nail OMIM:305000 DKC1 1736 HP:0000653 Sparse eyelashes OMIM:305000 DKC1 1736 HP:0001807 Ridged nail OMIM:305000 DKC1 1736 HP:0001876 Pancytopenia OMIM:305000 DKC1 1736 HP:0000975 Hyperhidrosis OMIM:305000 DKC1 1736 HP:0001882 Leukopenia OMIM:305000 DKC1 1736 HP:0000953 Hyperpigmentation of the skin OMIM:305000 DKC1 1736 HP:0001596 Alopecia OMIM:305000 DKC1 1736 HP:0004808 Acute myeloid leukemia OMIM:305000 DKC1 1736 HP:0002745 Oral leukoplakia OMIM:305000 DKC1 1736 HP:0000670 Carious teeth OMIM:305000 DKC1 1736 HP:0000518 Cataract OMIM:305000 DKC1 1736 HP:0000085 Horseshoe kidney OMIM:608224 P2RX2 22953 HP:0000006 Autosomal dominant inheritance OMIM:608224 P2RX2 22953 HP:0000360 Tinnitus OMIM:608224 P2RX2 22953 HP:0000365 Hearing impairment OMIM:615703 CEP19 84984 HP:0000027 Azoospermia OMIM:615703 CEP19 84984 HP:0000789 Infertility OMIM:615703 CEP19 84984 HP:0003124 Hypercholesterolemia OMIM:615703 CEP19 84984 HP:0000822 Hypertension OMIM:615703 CEP19 84984 HP:0005978 Type II diabetes mellitus OMIM:615703 CEP19 84984 HP:0001397 Hepatic steatosis OMIM:615703 CEP19 84984 HP:0001658 Myocardial infarction OMIM:615703 CEP19 84984 HP:0001513 Obesity OMIM:615703 CEP19 84984 HP:0001635 Congestive heart failure OMIM:615703 CEP19 84984 HP:0003233 Hypoalphalipoproteinemia OMIM:615703 CEP19 84984 HP:0005181 Premature coronary artery disease OMIM:615703 CEP19 84984 HP:0001249 Intellectual disability OMIM:615703 CEP19 84984 HP:0002155 Hypertriglyceridemia OMIM:615703 CEP19 84984 HP:0000798 Oligospermia OMIM:615703 CEP19 84984 HP:0000855 Insulin resistance OMIM:615703 CEP19 84984 HP:0003141 Hyperbetalipoproteinemia OMIM:615703 CEP19 84984 HP:0000007 Autosomal recessive inheritance OMIM:270970 SPTA1 6708 HP:0004444 Spherocytosis OMIM:270970 SPTA1 6708 HP:0001878 Hemolytic anemia OMIM:270970 SPTA1 6708 HP:0000007 Autosomal recessive inheritance OMIM:277440 VDR 7421 HP:0003025 Metaphyseal irregularity OMIM:277440 VDR 7421 HP:0000007 Autosomal recessive inheritance OMIM:277440 VDR 7421 HP:0000951 Abnormality of the skin OMIM:277440 VDR 7421 HP:0005469 Flat occiput OMIM:277440 VDR 7421 HP:0003698 Difficulty standing OMIM:277440 VDR 7421 HP:0002752 Sparse bone trabeculae OMIM:277440 VDR 7421 HP:0000886 Deformed rib cage OMIM:277440 VDR 7421 HP:0002355 Difficulty walking OMIM:277440 VDR 7421 HP:0003593 Infantile onset OMIM:277440 VDR 7421 HP:0002979 Bowing of the legs OMIM:277440 VDR 7421 HP:0002982 Tibial bowing OMIM:277440 VDR 7421 HP:0002199 Hypocalcemic seizures OMIM:277440 VDR 7421 HP:0002148 Hypophosphatemia OMIM:277440 VDR 7421 HP:0002748 Rickets OMIM:277440 VDR 7421 HP:0002653 Bone pain OMIM:277440 VDR 7421 HP:0000684 Delayed eruption of teeth OMIM:277440 VDR 7421 HP:0003013 Bulging epiphyses OMIM:277440 VDR 7421 HP:0002663 Delayed epiphyseal ossification OMIM:277440 VDR 7421 HP:0002007 Frontal bossing OMIM:277440 VDR 7421 HP:0003020 Enlargement of the wrists OMIM:277440 VDR 7421 HP:0009023 Abdominal wall muscle weakness OMIM:277440 VDR 7421 HP:0006297 Hypoplasia of dental enamel OMIM:277440 VDR 7421 HP:0003106 Subperiosteal erosions due to secondary hyperparathyroidism OMIM:277440 VDR 7421 HP:0000670 Carious teeth OMIM:277440 VDR 7421 HP:0000893 Bulging of the costochondral junction OMIM:277440 VDR 7421 HP:0002980 Femoral bowing OMIM:277440 VDR 7421 HP:0004492 Widely patent fontanelles and sutures OMIM:277440 VDR 7421 HP:0000737 Irritability OMIM:277440 VDR 7421 HP:0002753 Thin bony cortex OMIM:277440 VDR 7421 HP:0010502 Fibular bowing OMIM:277440 VDR 7421 HP:0001508 Failure to thrive OMIM:277440 VDR 7421 HP:0001510 Growth delay OMIM:277440 VDR 7421 HP:0002289 Alopecia universalis OMIM:277440 VDR 7421 HP:0003152 Increased serum 1,25-dihydroxyvitamin D3 OMIM:277440 VDR 7421 HP:0000867 Secondary hyperparathyroidism OMIM:277440 VDR 7421 HP:0003165 Elevated circulating parathyroid hormone (PTH) level OMIM:277440 VDR 7421 HP:0001270 Motor delay OMIM:277440 VDR 7421 HP:0001252 Muscular hypotonia OMIM:277440 VDR 7421 HP:0003029 Enlargement of the ankles OMIM:277440 VDR 7421 HP:0003155 Elevated alkaline phosphatase OMIM:277440 VDR 7421 HP:0001538 Protuberant abdomen OMIM:277440 VDR 7421 HP:0002757 Recurrent fractures OMIM:100640 ALDH1A1 216 HP:0000006 Autosomal dominant inheritance OMIM:100640 ALDH1A1 216 HP:0003533 Delayed oxidation of acetaldehyde OMIM:100640 ALDH1A1 216 HP:0001033 Facial flushing after alcohol intake OMIM:613471 LBR 3930 HP:0002383 Encephalitis OMIM:613471 LBR 3930 HP:0007400 Irregular hyperpigmentation OMIM:613471 LBR 3930 HP:0004295 Abnormality of the gastric mucosa OMIM:613471 LBR 3930 HP:0003761 Calcinosis OMIM:613471 LBR 3930 HP:0001394 Cirrhosis OMIM:613471 LBR 3930 HP:0100585 Teleangiectasia of the skin OMIM:613471 LBR 3930 HP:0003155 Elevated alkaline phosphatase OMIM:613471 LBR 3930 HP:0001369 Arthritis OMIM:613471 LBR 3930 HP:0001097 Keratoconjunctivitis sicca OMIM:613471 LBR 3930 HP:0200042 Skin ulcer OMIM:613471 LBR 3930 HP:0100579 Mucosal telangiectasiae OMIM:613471 LBR 3930 HP:0000006 Autosomal dominant inheritance OMIM:613471 LBR 3930 HP:0100869 Palmar telangiectasia OMIM:613471 LBR 3930 HP:0011838 Sclerodactyly OMIM:613471 LBR 3930 HP:0002240 Hepatomegaly OMIM:613471 LBR 3930 HP:0001063 Acrocyanosis OMIM:613471 LBR 3930 HP:0008872 Feeding difficulties in infancy OMIM:613471 LBR 3930 HP:0002093 Respiratory insufficiency OMIM:613471 LBR 3930 HP:0001744 Splenomegaly OMIM:613471 LBR 3930 HP:0002904 Hyperbilirubinemia OMIM:613471 LBR 3930 HP:0003326 Myalgia OMIM:613471 LBR 3930 HP:0100679 Lack of skin elasticity OMIM:613471 LBR 3930 HP:0000988 Skin rash OMIM:613471 LBR 3930 HP:0001541 Ascites OMIM:613471 LBR 3930 HP:0000989 Pruritus OMIM:613471 LBR 3930 HP:0000952 Jaundice OMIM:613471 LBR 3930 HP:0000934 Chondrocalcinosis OMIM:613471 LBR 3930 HP:0002570 Steatorrhea OMIM:613471 LBR 3930 HP:0002910 Elevated hepatic transaminases OMIM:613471 LBR 3930 HP:0002613 Biliary cirrhosis OMIM:613471 LBR 3930 HP:0000214 Lip telangiectasia OMIM:613471 LBR 3930 HP:0002239 Gastrointestinal hemorrhage OMIM:613471 LBR 3930 HP:0100725 Lichenification OMIM:613471 LBR 3930 HP:0004370 Abnormality of temperature regulation OMIM:613471 LBR 3930 HP:0000217 Xerostomia OMIM:614819 LTBP2 4053 HP:0000594 Shallow anterior chamber OMIM:614819 LTBP2 4053 HP:0001156 Brachydactyly syndrome OMIM:614819 LTBP2 4053 HP:0001083 Ectopia lentis OMIM:614819 LTBP2 4053 HP:0001387 Joint stiffness OMIM:614819 LTBP2 4053 HP:0001642 Pulmonic stenosis OMIM:614819 LTBP2 4053 HP:0007906 Increased intraocular pressure OMIM:614819 LTBP2 4053 HP:0000545 Myopia OMIM:614819 LTBP2 4053 HP:0000007 Autosomal recessive inheritance OMIM:614819 LTBP2 4053 HP:0001650 Aortic valve stenosis OMIM:614819 LTBP2 4053 HP:0004322 Short stature OMIM:601543 TECTA 7007 HP:0000006 Autosomal dominant inheritance OMIM:601543 TECTA 7007 HP:0000407 Sensorineural hearing impairment OMIM:121200 KCNQ2 3785 HP:0003812 Phenotypic variability OMIM:121200 KCNQ2 3785 HP:0002411 Myokymia OMIM:121200 KCNQ2 3785 HP:0001270 Motor delay OMIM:121200 KCNQ2 3785 HP:0001263 Global developmental delay OMIM:121200 KCNQ2 3785 HP:0002069 Generalized tonic-clonic seizures OMIM:121200 KCNQ2 3785 HP:0002373 Febrile seizures OMIM:121200 KCNQ2 3785 HP:0000006 Autosomal dominant inheritance OMIM:121200 KCNQ2 3785 HP:0001425 Heterogeneous OMIM:121200 KCNQ2 3785 HP:0002266 Focal clonic seizures OMIM:121200 KCNQ2 3785 HP:0000007 Autosomal recessive inheritance OMIM:121200 KCNQ2 3785 HP:0003623 Neonatal onset OMIM:613717 POLR1D 51082 HP:0000453 Choanal atresia OMIM:613717 POLR1D 51082 HP:0000347 Micrognathia OMIM:613717 POLR1D 51082 HP:0000006 Autosomal dominant inheritance OMIM:613717 POLR1D 51082 HP:0000452 Choanal stenosis OMIM:613717 POLR1D 51082 HP:0000494 Downslanted palpebral fissures OMIM:613717 POLR1D 51082 HP:0000175 Cleft palate OMIM:610623 PITX3 5309 HP:0000518 Cataract OMIM:610623 PITX3 5309 HP:0000006 Autosomal dominant inheritance OMIM:600309 GJA1 2697 HP:0000961 Cyanosis OMIM:600309 GJA1 2697 HP:0002092 Pulmonary hypertension OMIM:600309 GJA1 2697 HP:0010445 Primum atrial septal defect OMIM:600309 GJA1 2697 HP:0011622 Inlet ventricular septal defect OMIM:600309 GJA1 2697 HP:0011705 First degree atrioventricular block OMIM:600309 GJA1 2697 HP:0000006 Autosomal dominant inheritance OMIM:600309 GJA1 2697 HP:0001635 Congestive heart failure OMIM:158330 WNT4 54361 HP:0003250 Aplasia of the vagina OMIM:158330 WNT4 54361 HP:0000006 Autosomal dominant inheritance OMIM:158330 WNT4 54361 HP:0000141 Amenorrhea OMIM:158330 WNT4 54361 HP:0001007 Hirsutism OMIM:158330 WNT4 54361 HP:0000122 Unilateral renal agenesis OMIM:158330 WNT4 54361 HP:0008655 Aplasia/Hypoplasia of the fallopian tube OMIM:158330 WNT4 54361 HP:0000151 Aplasia of the uterus OMIM:158330 WNT4 54361 HP:0001061 Acne OMIM:615042 DPM2 8818 HP:0001522 Death in infancy OMIM:615042 DPM2 8818 HP:0000486 Strabismus OMIM:615042 DPM2 8818 HP:0000007 Autosomal recessive inheritance OMIM:615042 DPM2 8818 HP:0000347 Micrognathia OMIM:615042 DPM2 8818 HP:0002476 Primitive reflexes (palmomental, snout, glabellar) OMIM:615042 DPM2 8818 HP:0000601 Hypotelorism OMIM:615042 DPM2 8818 HP:0000648 Optic atrophy OMIM:615042 DPM2 8818 HP:0005484 Postnatal microcephaly OMIM:615042 DPM2 8818 HP:0011968 Feeding difficulties OMIM:615042 DPM2 8818 HP:0003577 Congenital onset OMIM:615042 DPM2 8818 HP:0003196 Short nose OMIM:615042 DPM2 8818 HP:0002650 Scoliosis OMIM:615042 DPM2 8818 HP:0002058 Myopathic facies OMIM:615042 DPM2 8818 HP:0002803 Congenital contracture OMIM:615042 DPM2 8818 HP:0001321 Cerebellar hypoplasia OMIM:615042 DPM2 8818 HP:0000218 High palate OMIM:615042 DPM2 8818 HP:0000219 Thin upper lip vermilion OMIM:615042 DPM2 8818 HP:0006829 Severe muscular hypotonia OMIM:615042 DPM2 8818 HP:0001263 Global developmental delay OMIM:615042 DPM2 8818 HP:0001250 Seizures OMIM:615042 DPM2 8818 HP:0003236 Elevated serum creatine phosphokinase OMIM:182870 SPTB 6710 HP:0001878 Hemolytic anemia OMIM:182870 SPTB 6710 HP:0000006 Autosomal dominant inheritance OMIM:182870 SPTB 6710 HP:0000952 Jaundice OMIM:182870 SPTB 6710 HP:0002904 Hyperbilirubinemia OMIM:182870 SPTB 6710 HP:0004839 Pyropoikilocytosis OMIM:182870 SPTB 6710 HP:0004444 Spherocytosis OMIM:182870 SPTB 6710 HP:0004445 Elliptocytosis OMIM:608804 GJC2 57165 HP:0003431 Decreased motor nerve conduction velocity OMIM:608804 GJC2 57165 HP:0001260 Dysarthria OMIM:608804 GJC2 57165 HP:0001263 Global developmental delay OMIM:608804 GJC2 57165 HP:0000545 Myopia OMIM:608804 GJC2 57165 HP:0000648 Optic atrophy OMIM:608804 GJC2 57165 HP:0100543 Cognitive impairment OMIM:608804 GJC2 57165 HP:0001250 Seizures OMIM:608804 GJC2 57165 HP:0003487 Babinski sign OMIM:608804 GJC2 57165 HP:0002063 Rigidity OMIM:608804 GJC2 57165 HP:0000007 Autosomal recessive inheritance OMIM:608804 GJC2 57165 HP:0002313 Spastic paraparesis OMIM:608804 GJC2 57165 HP:0001583 Rotary nystagmus OMIM:608804 GJC2 57165 HP:0002080 Intention tremor OMIM:608804 GJC2 57165 HP:0006808 Cerebral hypomyelination OMIM:608804 GJC2 57165 HP:0001332 Dystonia OMIM:608804 GJC2 57165 HP:0003593 Infantile onset OMIM:608804 GJC2 57165 HP:0002191 Progressive spasticity OMIM:608804 GJC2 57165 HP:0008936 Muscular hypotonia of the trunk OMIM:608804 GJC2 57165 HP:0003390 Sensory axonal neuropathy OMIM:608804 GJC2 57165 HP:0001270 Motor delay OMIM:608804 GJC2 57165 HP:0007220 Demyelinating motor neuropathy OMIM:608804 GJC2 57165 HP:0001266 Choreoathetosis OMIM:608804 GJC2 57165 HP:0001251 Ataxia OMIM:608804 GJC2 57165 HP:0002415 Leukodystrophy OMIM:608804 GJC2 57165 HP:0002599 Head titubation OMIM:608804 GJC2 57165 HP:0002465 Poor speech OMIM:608804 GJC2 57165 HP:0010628 Facial palsy OMIM:608804 GJC2 57165 HP:0002059 Cerebral atrophy OMIM:603736 KAT6B 23522 HP:0100649 Neoplasm of the oral cavity OMIM:603736 KAT6B 23522 HP:0000252 Microcephaly OMIM:603736 KAT6B 23522 HP:0000954 Single transverse palmar crease OMIM:603736 KAT6B 23522 HP:0000368 Low-set, posteriorly rotated ears OMIM:603736 KAT6B 23522 HP:0009738 Abnormality of the antihelix OMIM:603736 KAT6B 23522 HP:0001643 Patent ductus arteriosus OMIM:603736 KAT6B 23522 HP:0001561 Polyhydramnios OMIM:603736 KAT6B 23522 HP:0000821 Hypothyroidism OMIM:603736 KAT6B 23522 HP:0001252 Muscular hypotonia OMIM:603736 KAT6B 23522 HP:0001631 Defect in the atrial septum OMIM:603736 KAT6B 23522 HP:0004209 Clinodactyly of the 5th finger OMIM:603736 KAT6B 23522 HP:0000269 Prominent occiput OMIM:603736 KAT6B 23522 HP:0100490 Camptodactyly of finger OMIM:603736 KAT6B 23522 HP:0000347 Micrognathia OMIM:603736 KAT6B 23522 HP:0000581 Blepharophimosis OMIM:603736 KAT6B 23522 HP:0000383 Abnormality of periauricular region OMIM:603736 KAT6B 23522 HP:0000028 Cryptorchidism OMIM:603736 KAT6B 23522 HP:0001382 Joint hypermobility OMIM:603736 KAT6B 23522 HP:0002205 Recurrent respiratory infections OMIM:603736 KAT6B 23522 HP:0004322 Short stature OMIM:603736 KAT6B 23522 HP:0000175 Cleft palate OMIM:603736 KAT6B 23522 HP:0000340 Sloping forehead OMIM:603736 KAT6B 23522 HP:0000632 Lacrimation abnormality OMIM:603736 KAT6B 23522 HP:0001249 Intellectual disability OMIM:603736 KAT6B 23522 HP:0005105 Abnormal nasal morphology OMIM:603736 KAT6B 23522 HP:0001674 Complete atrioventricular canal defect OMIM:603736 KAT6B 23522 HP:0001250 Seizures OMIM:603736 KAT6B 23522 HP:0100543 Cognitive impairment OMIM:603736 KAT6B 23522 HP:0001629 Ventricular septal defect OMIM:274000 RBM8A 9939 HP:0007413 Nevus flammeus of the forehead OMIM:274000 RBM8A 9939 HP:0002999 Patellar dislocation OMIM:274000 RBM8A 9939 HP:0002827 Hip dislocation OMIM:274000 RBM8A 9939 HP:0004717 Axial malrotation of the kidney OMIM:274000 RBM8A 9939 HP:0011304 Broad thumb OMIM:274000 RBM8A 9939 HP:0000486 Strabismus OMIM:274000 RBM8A 9939 HP:0001928 Abnormality of coagulation OMIM:274000 RBM8A 9939 HP:0000337 Broad forehead OMIM:274000 RBM8A 9939 HP:0009702 Carpal synostosis OMIM:274000 RBM8A 9939 HP:0000463 Anteverted nares OMIM:274000 RBM8A 9939 HP:0001250 Seizures OMIM:274000 RBM8A 9939 HP:0001903 Anemia OMIM:274000 RBM8A 9939 HP:0000085 Horseshoe kidney OMIM:274000 RBM8A 9939 HP:0001051 Seborrheic dermatitis OMIM:274000 RBM8A 9939 HP:0002389 Cavum septum pellucidum OMIM:274000 RBM8A 9939 HP:0000895 Lateral clavicle hook OMIM:274000 RBM8A 9939 HP:0004313 Hypogammaglobulinemia OMIM:274000 RBM8A 9939 HP:0006443 Patellar aplasia OMIM:274000 RBM8A 9939 HP:0001631 Defect in the atrial septum OMIM:274000 RBM8A 9939 HP:0007514 Edema of the dorsum of hands OMIM:274000 RBM8A 9939 HP:0003043 Abnormality of the shoulder OMIM:274000 RBM8A 9939 HP:0001636 Tetralogy of Fallot OMIM:274000 RBM8A 9939 HP:0001433 Hepatosplenomegaly OMIM:274000 RBM8A 9939 HP:0001671 Abnormality of the cardiac septa OMIM:274000 RBM8A 9939 HP:0100327 Cow milk allergy OMIM:274000 RBM8A 9939 HP:0001181 Adducted thumb OMIM:274000 RBM8A 9939 HP:0002414 Spina bifida OMIM:274000 RBM8A 9939 HP:0001873 Thrombocytopenia OMIM:274000 RBM8A 9939 HP:0100694 Tibial torsion OMIM:274000 RBM8A 9939 HP:0000248 Brachycephaly OMIM:274000 RBM8A 9939 HP:0000347 Micrognathia OMIM:274000 RBM8A 9939 HP:0002970 Genu varum OMIM:274000 RBM8A 9939 HP:0001762 Talipes equinovarus OMIM:274000 RBM8A 9939 HP:0006101 Finger syndactyly OMIM:274000 RBM8A 9939 HP:0000175 Cleft palate OMIM:274000 RBM8A 9939 HP:0004977 Bilateral radial aplasia OMIM:274000 RBM8A 9939 HP:0012098 Edema of the dorsum of feet OMIM:274000 RBM8A 9939 HP:0002673 Coxa valga OMIM:274000 RBM8A 9939 HP:0002188 Delayed CNS myelination OMIM:274000 RBM8A 9939 HP:0004209 Clinodactyly of the 5th finger OMIM:274000 RBM8A 9939 HP:0001321 Cerebellar hypoplasia OMIM:274000 RBM8A 9939 HP:0002650 Scoliosis OMIM:274000 RBM8A 9939 HP:0001629 Ventricular septal defect OMIM:274000 RBM8A 9939 HP:0001270 Motor delay OMIM:274000 RBM8A 9939 HP:0006495 Aplasia/Hypoplasia of the ulna OMIM:274000 RBM8A 9939 HP:0002245 Meckel diverticulum OMIM:274000 RBM8A 9939 HP:0009829 Phocomelia OMIM:274000 RBM8A 9939 HP:0000407 Sensorineural hearing impairment OMIM:274000 RBM8A 9939 HP:0002949 Fused cervical vertebrae OMIM:274000 RBM8A 9939 HP:0000368 Low-set, posteriorly rotated ears OMIM:274000 RBM8A 9939 HP:0001263 Global developmental delay OMIM:274000 RBM8A 9939 HP:0000508 Ptosis OMIM:274000 RBM8A 9939 HP:0000272 Malar flattening OMIM:274000 RBM8A 9939 HP:0001680 Coarctation of aorta OMIM:274000 RBM8A 9939 HP:0008952 Shoulder muscle hypoplasia OMIM:274000 RBM8A 9939 HP:0001880 Eosinophilia OMIM:274000 RBM8A 9939 HP:0000348 High forehead OMIM:274000 RBM8A 9939 HP:0001522 Death in infancy OMIM:274000 RBM8A 9939 HP:0100542 Abnormal localization of kidney OMIM:274000 RBM8A 9939 HP:0000007 Autosomal recessive inheritance OMIM:274000 RBM8A 9939 HP:0001737 Pancreatic cysts OMIM:274000 RBM8A 9939 HP:0002990 Fibular aplasia OMIM:274000 RBM8A 9939 HP:0000151 Aplasia of the uterus OMIM:274000 RBM8A 9939 HP:0004322 Short stature OMIM:274000 RBM8A 9939 HP:0001498 Carpal bone hypoplasia OMIM:274000 RBM8A 9939 HP:0006507 Aplasia/hypoplasia of the humerus OMIM:274000 RBM8A 9939 HP:0000891 Cervical ribs OMIM:274000 RBM8A 9939 HP:0002242 Abnormality of the intestine OMIM:181270 KCTD1 284252 HP:0012330 Pyelonephritis OMIM:181270 KCTD1 284252 HP:0000104 Renal agenesis OMIM:181270 KCTD1 284252 HP:0000463 Anteverted nares OMIM:181270 KCTD1 284252 HP:0001231 Abnormality of the fingernails OMIM:181270 KCTD1 284252 HP:0006349 Agenesis of permanent teeth OMIM:181270 KCTD1 284252 HP:0008551 Microtia OMIM:181270 KCTD1 284252 HP:0000286 Epicanthus OMIM:181270 KCTD1 284252 HP:0000822 Hypertension OMIM:181270 KCTD1 284252 HP:0009912 Abnormality of the tragus OMIM:181270 KCTD1 284252 HP:0000765 Abnormality of the thorax OMIM:181270 KCTD1 284252 HP:0000385 Small earlobe OMIM:181270 KCTD1 284252 HP:0000077 Abnormality of the kidney OMIM:181270 KCTD1 284252 HP:0011251 Underdeveloped antitragus OMIM:181270 KCTD1 284252 HP:0000966 Hypohidrosis OMIM:181270 KCTD1 284252 HP:0000010 Recurrent urinary tract infections OMIM:181270 KCTD1 284252 HP:0009738 Abnormality of the antihelix OMIM:181270 KCTD1 284252 HP:0002000 Short columella OMIM:181270 KCTD1 284252 HP:0011272 Underdeveloped tragus OMIM:181270 KCTD1 284252 HP:0000625 Cleft eyelid OMIM:181270 KCTD1 284252 HP:0000069 Abnormality of the ureter OMIM:181270 KCTD1 284252 HP:0100783 Breast aplasia OMIM:181270 KCTD1 284252 HP:0005280 Depressed nasal bridge OMIM:181270 KCTD1 284252 HP:0009906 Aplasia/Hypoplasia of the earlobes OMIM:181270 KCTD1 284252 HP:0000089 Renal hypoplasia OMIM:181270 KCTD1 284252 HP:0000083 Renal insufficiency OMIM:181270 KCTD1 284252 HP:0006709 Aplasia/Hypoplasia of the nipples OMIM:181270 KCTD1 284252 HP:0000818 Abnormality of the endocrine system OMIM:181270 KCTD1 284252 HP:0002164 Nail dysplasia OMIM:181270 KCTD1 284252 HP:0011939 3-4 finger cutaneous syndactyly OMIM:181270 KCTD1 284252 HP:0000601 Hypotelorism OMIM:181270 KCTD1 284252 HP:0004691 2-3 toe syndactyly OMIM:181270 KCTD1 284252 HP:0000378 Cupped ear OMIM:181270 KCTD1 284252 HP:0000506 Telecanthus OMIM:181270 KCTD1 284252 HP:0100651 Type I diabetes mellitus OMIM:181270 KCTD1 284252 HP:0011362 Abnormal hair quantity OMIM:181270 KCTD1 284252 HP:0000581 Blepharophimosis OMIM:181270 KCTD1 284252 HP:0000303 Mandibular prognathia OMIM:181270 KCTD1 284252 HP:0009896 Abnormality of the antitragus OMIM:181270 KCTD1 284252 HP:0000369 Low-set ears OMIM:181270 KCTD1 284252 HP:0000684 Delayed eruption of teeth OMIM:181270 KCTD1 284252 HP:0000519 Congenital cataract OMIM:181270 KCTD1 284252 HP:0000518 Cataract OMIM:181270 KCTD1 284252 HP:0000006 Autosomal dominant inheritance OMIM:181270 KCTD1 284252 HP:0100540 Palpebral edema OMIM:181270 KCTD1 284252 HP:0000612 Iris coloboma OMIM:181270 KCTD1 284252 HP:0008070 Sparse hair OMIM:181270 KCTD1 284252 HP:0000411 Protruding ear OMIM:610915 P3H1 64175 HP:0000023 Inguinal hernia OMIM:610915 P3H1 64175 HP:0001552 Barrel-shaped chest OMIM:610915 P3H1 64175 HP:0002645 Wormian bones OMIM:610915 P3H1 64175 HP:0002808 Kyphosis OMIM:610915 P3H1 64175 HP:0005855 Multiple prenatal fractures OMIM:610915 P3H1 64175 HP:0000007 Autosomal recessive inheritance OMIM:610915 P3H1 64175 HP:0002986 Radial bowing OMIM:610915 P3H1 64175 HP:0000926 Platyspondyly OMIM:610915 P3H1 64175 HP:0003784 Type 1 collagen overmodification OMIM:610915 P3H1 64175 HP:0000260 Wide anterior fontanel OMIM:610915 P3H1 64175 HP:0001388 Joint laxity OMIM:610915 P3H1 64175 HP:0002982 Tibial bowing OMIM:610915 P3H1 64175 HP:0004331 Decreased skull ossification OMIM:610915 P3H1 64175 HP:0002953 Vertebral compression fractures OMIM:610915 P3H1 64175 HP:0000883 Thin ribs OMIM:610915 P3H1 64175 HP:0000311 Round face OMIM:610915 P3H1 64175 HP:0002980 Femoral bowing OMIM:610915 P3H1 64175 HP:0000938 Osteopenia OMIM:610915 P3H1 64175 HP:0002650 Scoliosis OMIM:610915 P3H1 64175 HP:0008873 Disproportionate short-limb short stature OMIM:610915 P3H1 64175 HP:0010049 Short metacarpal OMIM:610915 P3H1 64175 HP:0000520 Proptosis OMIM:610915 P3H1 64175 HP:0003783 Externally rotated/abducted legs OMIM:610915 P3H1 64175 HP:0003100 Slender long bone OMIM:610915 P3H1 64175 HP:0001263 Global developmental delay OMIM:610915 P3H1 64175 HP:0000270 Delayed cranial suture closure OMIM:610915 P3H1 64175 HP:0002757 Recurrent fractures OMIM:121201 KCNQ3 3786 HP:0002069 Generalized tonic-clonic seizures OMIM:121201 KCNQ3 3786 HP:0002266 Focal clonic seizures OMIM:121201 KCNQ3 3786 HP:0000006 Autosomal dominant inheritance OMIM:304340 AP1S2 8905 HP:0001371 Flexion contracture OMIM:304340 AP1S2 8905 HP:0001417 X-linked inheritance OMIM:304340 AP1S2 8905 HP:0001288 Gait disturbance OMIM:304340 AP1S2 8905 HP:0001382 Joint hypermobility OMIM:304340 AP1S2 8905 HP:0000448 Prominent nose OMIM:304340 AP1S2 8905 HP:0000303 Mandibular prognathia OMIM:304340 AP1S2 8905 HP:0001347 Hyperreflexia OMIM:304340 AP1S2 8905 HP:0000174 Abnormality of the palate OMIM:304340 AP1S2 8905 HP:0001252 Muscular hypotonia OMIM:304340 AP1S2 8905 HP:0000154 Wide mouth OMIM:304340 AP1S2 8905 HP:0000407 Sensorineural hearing impairment OMIM:304340 AP1S2 8905 HP:0000364 Hearing abnormality OMIM:304340 AP1S2 8905 HP:0004325 Decreased body weight OMIM:304340 AP1S2 8905 HP:0000648 Optic atrophy OMIM:304340 AP1S2 8905 HP:0000238 Hydrocephalus OMIM:304340 AP1S2 8905 HP:0000490 Deeply set eye OMIM:304340 AP1S2 8905 HP:0011220 Prominent forehead OMIM:304340 AP1S2 8905 HP:0000708 Behavioral abnormality OMIM:304340 AP1S2 8905 HP:0000028 Cryptorchidism OMIM:304340 AP1S2 8905 HP:0001250 Seizures OMIM:304340 AP1S2 8905 HP:0002650 Scoliosis OMIM:304340 AP1S2 8905 HP:0011001 Increased bone mineral density OMIM:304340 AP1S2 8905 HP:0004299 Hernia of the abdominal wall OMIM:304340 AP1S2 8905 HP:0100716 Self-injurious behavior OMIM:304340 AP1S2 8905 HP:0002167 Neurological speech impairment OMIM:304340 AP1S2 8905 HP:0002119 Ventriculomegaly OMIM:304340 AP1S2 8905 HP:0001263 Global developmental delay OMIM:304340 AP1S2 8905 HP:0001249 Intellectual disability OMIM:304340 AP1S2 8905 HP:0000486 Strabismus OMIM:304340 AP1S2 8905 HP:0002120 Cerebral cortical atrophy OMIM:304340 AP1S2 8905 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:304340 AP1S2 8905 HP:0000276 Long face OMIM:304340 AP1S2 8905 HP:0000280 Coarse facial features OMIM:304340 AP1S2 8905 HP:0000322 Short philtrum OMIM:304340 AP1S2 8905 HP:0001257 Spasticity OMIM:304340 AP1S2 8905 HP:0100543 Cognitive impairment OMIM:304340 AP1S2 8905 HP:0002134 Abnormality of the basal ganglia OMIM:304340 AP1S2 8905 HP:0000256 Macrocephaly OMIM:304340 AP1S2 8905 HP:0002514 Cerebral calcification OMIM:304340 AP1S2 8905 HP:0001305 Dandy-Walker malformation OMIM:304340 AP1S2 8905 HP:0005101 High-frequency hearing impairment OMIM:304340 AP1S2 8905 HP:0002066 Gait ataxia OMIM:304340 AP1S2 8905 HP:0012471 Thick vermilion border OMIM:304340 AP1S2 8905 HP:0004374 Hemiplegia/hemiparesis OMIM:304340 AP1S2 8905 HP:0001266 Choreoathetosis OMIM:102770 AMPD1 270 HP:0009020 Exercise-induced muscle fatigue OMIM:102770 AMPD1 270 HP:0003710 Exercise-induced muscle cramps OMIM:102770 AMPD1 270 HP:0001324 Muscle weakness OMIM:102770 AMPD1 270 HP:0000006 Autosomal dominant inheritance OMIM:102770 AMPD1 270 HP:0003394 Muscle cramps OMIM:102770 AMPD1 270 HP:0003198 Myopathy OMIM:102770 AMPD1 270 HP:0001319 Neonatal hypotonia OMIM:616080 CDK6 1021 HP:0000252 Microcephaly OMIM:616080 CDK6 1021 HP:0009879 Cortical gyral simplification OMIM:616080 CDK6 1021 HP:0000340 Sloping forehead OMIM:616080 CDK6 1021 HP:0001249 Intellectual disability OMIM:616118 FBN2 2201 HP:0000608 Macular degeneration OMIM:616118 FBN2 2201 HP:0000505 Visual impairment OMIM:168605 DCTN1 1639 HP:0000006 Autosomal dominant inheritance OMIM:168605 DCTN1 1639 HP:0001260 Dysarthria OMIM:168605 DCTN1 1639 HP:0002791 Hypoventilation OMIM:168605 DCTN1 1639 HP:0000738 Hallucinations OMIM:168605 DCTN1 1639 HP:0002360 Sleep disturbance OMIM:168605 DCTN1 1639 HP:0001337 Tremor OMIM:168605 DCTN1 1639 HP:0001939 Abnormality of metabolism/homeostasis OMIM:168605 DCTN1 1639 HP:0002093 Respiratory insufficiency OMIM:168605 DCTN1 1639 HP:0007311 Short stepped shuffling gait OMIM:168605 DCTN1 1639 HP:0000716 Depression OMIM:168605 DCTN1 1639 HP:0002615 Hypotension OMIM:168605 DCTN1 1639 HP:0000298 Mask-like facies OMIM:168605 DCTN1 1639 HP:0001300 Parkinsonism OMIM:168605 DCTN1 1639 HP:0007110 Central hypoventilation OMIM:168605 DCTN1 1639 HP:0003678 Rapidly progressive OMIM:168605 DCTN1 1639 HP:0000719 Inappropriate behavior OMIM:168605 DCTN1 1639 HP:0000741 Apathy OMIM:168605 DCTN1 1639 HP:0002376 Developmental regression OMIM:168605 DCTN1 1639 HP:0001621 Weak voice OMIM:168605 DCTN1 1639 HP:0002067 Bradykinesia OMIM:168605 DCTN1 1639 HP:0000511 Vertical supranuclear gaze palsy OMIM:168605 DCTN1 1639 HP:0001824 Weight loss OMIM:168605 DCTN1 1639 HP:0100785 Insomnia OMIM:168605 DCTN1 1639 HP:0002071 Abnormality of extrapyramidal motor function OMIM:168605 DCTN1 1639 HP:0002063 Rigidity OMIM:144750 LRP5 4041 HP:0100861 Vertebral body sclerosis OMIM:144750 LRP5 4041 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:144750 LRP5 4041 HP:0000639 Nystagmus OMIM:144750 LRP5 4041 HP:0100923 Clavicular sclerosis OMIM:144750 LRP5 4041 HP:0000006 Autosomal dominant inheritance OMIM:144750 LRP5 4041 HP:0004493 Craniofacial hyperostosis OMIM:144750 LRP5 4041 HP:0000407 Sensorineural hearing impairment OMIM:144750 LRP5 4041 HP:0000772 Abnormality of the ribs OMIM:144750 LRP5 4041 HP:0100789 Torus palatinus OMIM:144750 LRP5 4041 HP:0000935 Thickened cortex of long bones OMIM:144750 LRP5 4041 HP:0001507 Growth abnormality OMIM:144750 LRP5 4041 HP:0000303 Mandibular prognathia OMIM:144750 LRP5 4041 HP:0003312 Abnormal form of the vertebral bodies OMIM:144750 LRP5 4041 HP:0004425 Flat forehead OMIM:144750 LRP5 4041 HP:0000689 Dental malocclusion OMIM:144750 LRP5 4041 HP:0008114 Metatarsal diaphyseal endosteal sclerosis OMIM:144750 LRP5 4041 HP:0010628 Facial palsy OMIM:144750 LRP5 4041 HP:0006174 Metacarpal diaphyseal endosteal sclerosis OMIM:144750 LRP5 4041 HP:0003103 Abnormal cortical bone morphology OMIM:242900 SMARCAL1 50485 HP:0001511 Intrauterine growth retardation OMIM:242900 SMARCAL1 50485 HP:0000470 Short neck OMIM:242900 SMARCAL1 50485 HP:0002938 Lumbar hyperlordosis OMIM:242900 SMARCAL1 50485 HP:0002634 Arteriosclerosis OMIM:242900 SMARCAL1 50485 HP:0000691 Microdontia OMIM:242900 SMARCAL1 50485 HP:0001873 Thrombocytopenia OMIM:242900 SMARCAL1 50485 HP:0002843 Abnormality of T cells OMIM:242900 SMARCAL1 50485 HP:0000414 Bulbous nose OMIM:242900 SMARCAL1 50485 HP:0000995 Melanocytic nevus OMIM:242900 SMARCAL1 50485 HP:0005280 Depressed nasal bridge OMIM:242900 SMARCAL1 50485 HP:0000926 Platyspondyly OMIM:242900 SMARCAL1 50485 HP:0001538 Protuberant abdomen OMIM:242900 SMARCAL1 50485 HP:0001875 Neutropenia OMIM:242900 SMARCAL1 50485 HP:0002515 Waddling gait OMIM:242900 SMARCAL1 50485 HP:0002213 Fine hair OMIM:242900 SMARCAL1 50485 HP:0000007 Autosomal recessive inheritance OMIM:242900 SMARCAL1 50485 HP:0000093 Proteinuria OMIM:242900 SMARCAL1 50485 HP:0000100 Nephrotic syndrome OMIM:242900 SMARCAL1 50485 HP:0003521 Disproportionate short-trunk short stature OMIM:242900 SMARCAL1 50485 HP:0100820 Glomerulopathy OMIM:242900 SMARCAL1 50485 HP:0000938 Osteopenia OMIM:242900 SMARCAL1 50485 HP:0002925 Thyroid-stimulating hormone excess OMIM:242900 SMARCAL1 50485 HP:0000097 Focal segmental glomerulosclerosis OMIM:242900 SMARCAL1 50485 HP:0001270 Motor delay OMIM:242900 SMARCAL1 50485 HP:0000957 Cafe-au-lait spot OMIM:242900 SMARCAL1 50485 HP:0002326 Transient ischemic attack OMIM:242900 SMARCAL1 50485 HP:0002208 Coarse hair OMIM:242900 SMARCAL1 50485 HP:0001903 Anemia OMIM:242900 SMARCAL1 50485 HP:0010701 Abnormal immunoglobulin level OMIM:242900 SMARCAL1 50485 HP:0000483 Astigmatism OMIM:242900 SMARCAL1 50485 HP:0000083 Renal insufficiency OMIM:242900 SMARCAL1 50485 HP:0002655 Spondyloepiphyseal dysplasia OMIM:242900 SMARCAL1 50485 HP:0000545 Myopia OMIM:242900 SMARCAL1 50485 HP:0002719 Recurrent infections OMIM:242900 SMARCAL1 50485 HP:0003182 Shallow acetabular fossae OMIM:242900 SMARCAL1 50485 HP:0001888 Lymphopenia OMIM:242900 SMARCAL1 50485 HP:0001034 Hypermelanotic macule OMIM:242900 SMARCAL1 50485 HP:0001620 High pitched voice OMIM:242900 SMARCAL1 50485 HP:0007759 Opacification of the corneal stroma OMIM:242900 SMARCAL1 50485 HP:0002942 Thoracic kyphosis OMIM:242900 SMARCAL1 50485 HP:0006453 Lateral displacement of the femoral head OMIM:242900 SMARCAL1 50485 HP:0003300 Ovoid vertebral bodies OMIM:242900 SMARCAL1 50485 HP:0005374 Cellular immunodeficiency OMIM:242900 SMARCAL1 50485 HP:0003090 Hypoplasia of the capital femoral epiphysis OMIM:242900 SMARCAL1 50485 HP:0000822 Hypertension ORPHANET:1572 LRBA 987 HP:0000388 Otitis media ORPHANET:1572 LRBA 987 HP:0002091 Restrictive lung disease ORPHANET:1572 LRBA 987 HP:0002665 Lymphoma ORPHANET:1572 LRBA 987 HP:0001744 Splenomegaly ORPHANET:1572 LRBA 987 HP:0002205 Recurrent respiratory infections ORPHANET:1572 LRBA 987 HP:0100723 Gastrointestinal stroma tumor ORPHANET:1572 LRBA 987 HP:0000246 Sinusitis ORPHANET:1572 LRBA 987 HP:0001933 Subcutaneous hemorrhage ORPHANET:1572 LRBA 987 HP:0002829 Arthralgia ORPHANET:1572 LRBA 987 HP:0002024 Malabsorption ORPHANET:1572 LRBA 987 HP:0001878 Hemolytic anemia ORPHANET:1572 LRBA 987 HP:0001873 Thrombocytopenia ORPHANET:1572 LRBA 987 HP:0002109 Abnormality of the bronchi ORPHANET:1572 LRBA 987 HP:0001888 Lymphopenia ORPHANET:1572 LRBA 987 HP:0006753 Neoplasm of the stomach ORPHANET:1572 LRBA 987 HP:0002633 Vasculitis ORPHANET:1572 LRBA 987 HP:0002910 Elevated hepatic transaminases ORPHANET:1572 LRBA 987 HP:0002716 Lymphadenopathy ORPHANET:1572 LRBA 987 HP:0004313 Hypogammaglobulinemia ORPHANET:1572 LRBA 987 HP:0002097 Emphysema ORPHANET:1572 TNFSF12 8742 HP:0000388 Otitis media ORPHANET:1572 TNFSF12 8742 HP:0002091 Restrictive lung disease ORPHANET:1572 TNFSF12 8742 HP:0002665 Lymphoma ORPHANET:1572 TNFSF12 8742 HP:0001744 Splenomegaly ORPHANET:1572 TNFSF12 8742 HP:0002205 Recurrent respiratory infections ORPHANET:1572 TNFSF12 8742 HP:0100723 Gastrointestinal stroma tumor ORPHANET:1572 TNFSF12 8742 HP:0000246 Sinusitis ORPHANET:1572 TNFSF12 8742 HP:0001933 Subcutaneous hemorrhage ORPHANET:1572 TNFSF12 8742 HP:0002829 Arthralgia ORPHANET:1572 TNFSF12 8742 HP:0002024 Malabsorption ORPHANET:1572 TNFSF12 8742 HP:0001878 Hemolytic anemia ORPHANET:1572 TNFSF12 8742 HP:0001873 Thrombocytopenia ORPHANET:1572 TNFSF12 8742 HP:0002109 Abnormality of the bronchi ORPHANET:1572 TNFSF12 8742 HP:0001888 Lymphopenia ORPHANET:1572 TNFSF12 8742 HP:0006753 Neoplasm of the stomach ORPHANET:1572 TNFSF12 8742 HP:0002633 Vasculitis ORPHANET:1572 TNFSF12 8742 HP:0002910 Elevated hepatic transaminases ORPHANET:1572 TNFSF12 8742 HP:0002716 Lymphadenopathy ORPHANET:1572 TNFSF12 8742 HP:0004313 Hypogammaglobulinemia ORPHANET:1572 TNFSF12 8742 HP:0002097 Emphysema ORPHANET:1572 CD81 975 HP:0000388 Otitis media ORPHANET:1572 CD81 975 HP:0002091 Restrictive lung disease ORPHANET:1572 CD81 975 HP:0002665 Lymphoma ORPHANET:1572 CD81 975 HP:0001744 Splenomegaly ORPHANET:1572 CD81 975 HP:0002205 Recurrent respiratory infections ORPHANET:1572 CD81 975 HP:0100723 Gastrointestinal stroma tumor ORPHANET:1572 CD81 975 HP:0000246 Sinusitis ORPHANET:1572 CD81 975 HP:0001933 Subcutaneous hemorrhage ORPHANET:1572 CD81 975 HP:0002829 Arthralgia ORPHANET:1572 CD81 975 HP:0002024 Malabsorption ORPHANET:1572 CD81 975 HP:0001878 Hemolytic anemia ORPHANET:1572 CD81 975 HP:0001873 Thrombocytopenia ORPHANET:1572 CD81 975 HP:0002109 Abnormality of the bronchi ORPHANET:1572 CD81 975 HP:0001888 Lymphopenia ORPHANET:1572 CD81 975 HP:0006753 Neoplasm of the stomach ORPHANET:1572 CD81 975 HP:0002633 Vasculitis ORPHANET:1572 CD81 975 HP:0002910 Elevated hepatic transaminases ORPHANET:1572 CD81 975 HP:0002716 Lymphadenopathy ORPHANET:1572 CD81 975 HP:0004313 Hypogammaglobulinemia ORPHANET:1572 CD81 975 HP:0002097 Emphysema ORPHANET:1572 TNFRSF13C 115650 HP:0000388 Otitis media ORPHANET:1572 TNFRSF13C 115650 HP:0002091 Restrictive lung disease ORPHANET:1572 TNFRSF13C 115650 HP:0002665 Lymphoma ORPHANET:1572 TNFRSF13C 115650 HP:0001744 Splenomegaly ORPHANET:1572 TNFRSF13C 115650 HP:0002205 Recurrent respiratory infections ORPHANET:1572 TNFRSF13C 115650 HP:0100723 Gastrointestinal stroma tumor ORPHANET:1572 TNFRSF13C 115650 HP:0000246 Sinusitis ORPHANET:1572 TNFRSF13C 115650 HP:0001933 Subcutaneous hemorrhage ORPHANET:1572 TNFRSF13C 115650 HP:0002829 Arthralgia ORPHANET:1572 TNFRSF13C 115650 HP:0002024 Malabsorption ORPHANET:1572 TNFRSF13C 115650 HP:0001878 Hemolytic anemia ORPHANET:1572 TNFRSF13C 115650 HP:0001873 Thrombocytopenia ORPHANET:1572 TNFRSF13C 115650 HP:0002109 Abnormality of the bronchi ORPHANET:1572 TNFRSF13C 115650 HP:0001888 Lymphopenia ORPHANET:1572 TNFRSF13C 115650 HP:0006753 Neoplasm of the stomach ORPHANET:1572 TNFRSF13C 115650 HP:0002633 Vasculitis ORPHANET:1572 TNFRSF13C 115650 HP:0002910 Elevated hepatic transaminases ORPHANET:1572 TNFRSF13C 115650 HP:0002716 Lymphadenopathy ORPHANET:1572 TNFRSF13C 115650 HP:0004313 Hypogammaglobulinemia ORPHANET:1572 TNFRSF13C 115650 HP:0002097 Emphysema ORPHANET:1572 NFKB2 4791 HP:0000388 Otitis media ORPHANET:1572 NFKB2 4791 HP:0002091 Restrictive lung disease ORPHANET:1572 NFKB2 4791 HP:0002665 Lymphoma ORPHANET:1572 NFKB2 4791 HP:0001744 Splenomegaly ORPHANET:1572 NFKB2 4791 HP:0002205 Recurrent respiratory infections ORPHANET:1572 NFKB2 4791 HP:0100723 Gastrointestinal stroma tumor ORPHANET:1572 NFKB2 4791 HP:0000246 Sinusitis ORPHANET:1572 NFKB2 4791 HP:0001933 Subcutaneous hemorrhage ORPHANET:1572 NFKB2 4791 HP:0002829 Arthralgia ORPHANET:1572 NFKB2 4791 HP:0002024 Malabsorption ORPHANET:1572 NFKB2 4791 HP:0001878 Hemolytic anemia ORPHANET:1572 NFKB2 4791 HP:0001873 Thrombocytopenia ORPHANET:1572 NFKB2 4791 HP:0002109 Abnormality of the bronchi ORPHANET:1572 NFKB2 4791 HP:0001888 Lymphopenia ORPHANET:1572 NFKB2 4791 HP:0006753 Neoplasm of the stomach ORPHANET:1572 NFKB2 4791 HP:0002633 Vasculitis ORPHANET:1572 NFKB2 4791 HP:0002910 Elevated hepatic transaminases ORPHANET:1572 NFKB2 4791 HP:0002716 Lymphadenopathy ORPHANET:1572 NFKB2 4791 HP:0004313 Hypogammaglobulinemia ORPHANET:1572 NFKB2 4791 HP:0002097 Emphysema ORPHANET:1572 CR2 1380 HP:0000388 Otitis media ORPHANET:1572 CR2 1380 HP:0002091 Restrictive lung disease ORPHANET:1572 CR2 1380 HP:0002665 Lymphoma ORPHANET:1572 CR2 1380 HP:0001744 Splenomegaly ORPHANET:1572 CR2 1380 HP:0002205 Recurrent respiratory infections ORPHANET:1572 CR2 1380 HP:0100723 Gastrointestinal stroma tumor ORPHANET:1572 CR2 1380 HP:0000246 Sinusitis ORPHANET:1572 CR2 1380 HP:0001933 Subcutaneous hemorrhage ORPHANET:1572 CR2 1380 HP:0002829 Arthralgia ORPHANET:1572 CR2 1380 HP:0002024 Malabsorption ORPHANET:1572 CR2 1380 HP:0001878 Hemolytic anemia ORPHANET:1572 CR2 1380 HP:0001873 Thrombocytopenia ORPHANET:1572 CR2 1380 HP:0002109 Abnormality of the bronchi ORPHANET:1572 CR2 1380 HP:0001888 Lymphopenia ORPHANET:1572 CR2 1380 HP:0006753 Neoplasm of the stomach ORPHANET:1572 CR2 1380 HP:0002633 Vasculitis ORPHANET:1572 CR2 1380 HP:0002910 Elevated hepatic transaminases ORPHANET:1572 CR2 1380 HP:0002716 Lymphadenopathy ORPHANET:1572 CR2 1380 HP:0004313 Hypogammaglobulinemia ORPHANET:1572 CR2 1380 HP:0002097 Emphysema ORPHANET:1572 TNFRSF13B 23495 HP:0000388 Otitis media ORPHANET:1572 TNFRSF13B 23495 HP:0002091 Restrictive lung disease ORPHANET:1572 TNFRSF13B 23495 HP:0002665 Lymphoma ORPHANET:1572 TNFRSF13B 23495 HP:0001744 Splenomegaly ORPHANET:1572 TNFRSF13B 23495 HP:0002205 Recurrent respiratory infections ORPHANET:1572 TNFRSF13B 23495 HP:0100723 Gastrointestinal stroma tumor ORPHANET:1572 TNFRSF13B 23495 HP:0000246 Sinusitis ORPHANET:1572 TNFRSF13B 23495 HP:0001933 Subcutaneous hemorrhage ORPHANET:1572 TNFRSF13B 23495 HP:0002829 Arthralgia ORPHANET:1572 TNFRSF13B 23495 HP:0002024 Malabsorption ORPHANET:1572 TNFRSF13B 23495 HP:0001878 Hemolytic anemia ORPHANET:1572 TNFRSF13B 23495 HP:0001873 Thrombocytopenia ORPHANET:1572 TNFRSF13B 23495 HP:0002109 Abnormality of the bronchi ORPHANET:1572 TNFRSF13B 23495 HP:0001888 Lymphopenia ORPHANET:1572 TNFRSF13B 23495 HP:0006753 Neoplasm of the stomach ORPHANET:1572 TNFRSF13B 23495 HP:0002633 Vasculitis ORPHANET:1572 TNFRSF13B 23495 HP:0002910 Elevated hepatic transaminases ORPHANET:1572 TNFRSF13B 23495 HP:0002716 Lymphadenopathy ORPHANET:1572 TNFRSF13B 23495 HP:0004313 Hypogammaglobulinemia ORPHANET:1572 TNFRSF13B 23495 HP:0002097 Emphysema ORPHANET:1572 PRKCD 5580 HP:0000388 Otitis media ORPHANET:1572 PRKCD 5580 HP:0002091 Restrictive lung disease ORPHANET:1572 PRKCD 5580 HP:0002665 Lymphoma ORPHANET:1572 PRKCD 5580 HP:0001744 Splenomegaly ORPHANET:1572 PRKCD 5580 HP:0002205 Recurrent respiratory infections ORPHANET:1572 PRKCD 5580 HP:0100723 Gastrointestinal stroma tumor ORPHANET:1572 PRKCD 5580 HP:0000246 Sinusitis ORPHANET:1572 PRKCD 5580 HP:0001933 Subcutaneous hemorrhage ORPHANET:1572 PRKCD 5580 HP:0002829 Arthralgia ORPHANET:1572 PRKCD 5580 HP:0002024 Malabsorption ORPHANET:1572 PRKCD 5580 HP:0001878 Hemolytic anemia ORPHANET:1572 PRKCD 5580 HP:0001873 Thrombocytopenia ORPHANET:1572 PRKCD 5580 HP:0002109 Abnormality of the bronchi ORPHANET:1572 PRKCD 5580 HP:0001888 Lymphopenia ORPHANET:1572 PRKCD 5580 HP:0006753 Neoplasm of the stomach ORPHANET:1572 PRKCD 5580 HP:0002633 Vasculitis ORPHANET:1572 PRKCD 5580 HP:0002910 Elevated hepatic transaminases ORPHANET:1572 PRKCD 5580 HP:0002716 Lymphadenopathy ORPHANET:1572 PRKCD 5580 HP:0004313 Hypogammaglobulinemia ORPHANET:1572 PRKCD 5580 HP:0002097 Emphysema ORPHANET:1572 ICOS 29851 HP:0000388 Otitis media ORPHANET:1572 ICOS 29851 HP:0002091 Restrictive lung disease ORPHANET:1572 ICOS 29851 HP:0002665 Lymphoma ORPHANET:1572 ICOS 29851 HP:0001744 Splenomegaly ORPHANET:1572 ICOS 29851 HP:0002205 Recurrent respiratory infections ORPHANET:1572 ICOS 29851 HP:0100723 Gastrointestinal stroma tumor ORPHANET:1572 ICOS 29851 HP:0000246 Sinusitis ORPHANET:1572 ICOS 29851 HP:0001933 Subcutaneous hemorrhage ORPHANET:1572 ICOS 29851 HP:0002829 Arthralgia ORPHANET:1572 ICOS 29851 HP:0002024 Malabsorption ORPHANET:1572 ICOS 29851 HP:0001878 Hemolytic anemia ORPHANET:1572 ICOS 29851 HP:0001873 Thrombocytopenia ORPHANET:1572 ICOS 29851 HP:0002109 Abnormality of the bronchi ORPHANET:1572 ICOS 29851 HP:0001888 Lymphopenia ORPHANET:1572 ICOS 29851 HP:0006753 Neoplasm of the stomach ORPHANET:1572 ICOS 29851 HP:0002633 Vasculitis ORPHANET:1572 ICOS 29851 HP:0002910 Elevated hepatic transaminases ORPHANET:1572 ICOS 29851 HP:0002716 Lymphadenopathy ORPHANET:1572 ICOS 29851 HP:0004313 Hypogammaglobulinemia ORPHANET:1572 ICOS 29851 HP:0002097 Emphysema ORPHANET:1572 MS4A1 931 HP:0000388 Otitis media ORPHANET:1572 MS4A1 931 HP:0002091 Restrictive lung disease ORPHANET:1572 MS4A1 931 HP:0002665 Lymphoma ORPHANET:1572 MS4A1 931 HP:0001744 Splenomegaly ORPHANET:1572 MS4A1 931 HP:0002205 Recurrent respiratory infections ORPHANET:1572 MS4A1 931 HP:0100723 Gastrointestinal stroma tumor ORPHANET:1572 MS4A1 931 HP:0000246 Sinusitis ORPHANET:1572 MS4A1 931 HP:0001933 Subcutaneous hemorrhage ORPHANET:1572 MS4A1 931 HP:0002829 Arthralgia ORPHANET:1572 MS4A1 931 HP:0002024 Malabsorption ORPHANET:1572 MS4A1 931 HP:0001878 Hemolytic anemia ORPHANET:1572 MS4A1 931 HP:0001873 Thrombocytopenia ORPHANET:1572 MS4A1 931 HP:0002109 Abnormality of the bronchi ORPHANET:1572 MS4A1 931 HP:0001888 Lymphopenia ORPHANET:1572 MS4A1 931 HP:0006753 Neoplasm of the stomach ORPHANET:1572 MS4A1 931 HP:0002633 Vasculitis ORPHANET:1572 MS4A1 931 HP:0002910 Elevated hepatic transaminases ORPHANET:1572 MS4A1 931 HP:0002716 Lymphadenopathy ORPHANET:1572 MS4A1 931 HP:0004313 Hypogammaglobulinemia ORPHANET:1572 MS4A1 931 HP:0002097 Emphysema ORPHANET:1572 CD19 930 HP:0000388 Otitis media ORPHANET:1572 CD19 930 HP:0002091 Restrictive lung disease ORPHANET:1572 CD19 930 HP:0002665 Lymphoma ORPHANET:1572 CD19 930 HP:0001744 Splenomegaly ORPHANET:1572 CD19 930 HP:0002205 Recurrent respiratory infections ORPHANET:1572 CD19 930 HP:0100723 Gastrointestinal stroma tumor ORPHANET:1572 CD19 930 HP:0000246 Sinusitis ORPHANET:1572 CD19 930 HP:0001933 Subcutaneous hemorrhage ORPHANET:1572 CD19 930 HP:0002829 Arthralgia ORPHANET:1572 CD19 930 HP:0002024 Malabsorption ORPHANET:1572 CD19 930 HP:0001878 Hemolytic anemia ORPHANET:1572 CD19 930 HP:0001873 Thrombocytopenia ORPHANET:1572 CD19 930 HP:0002109 Abnormality of the bronchi ORPHANET:1572 CD19 930 HP:0001888 Lymphopenia ORPHANET:1572 CD19 930 HP:0006753 Neoplasm of the stomach ORPHANET:1572 CD19 930 HP:0002633 Vasculitis ORPHANET:1572 CD19 930 HP:0002910 Elevated hepatic transaminases ORPHANET:1572 CD19 930 HP:0002716 Lymphadenopathy ORPHANET:1572 CD19 930 HP:0004313 Hypogammaglobulinemia ORPHANET:1572 CD19 930 HP:0002097 Emphysema OMIM:612527 RPS17 6218 HP:0012133 Erythroid hypoplasia OMIM:612527 RPS17 6218 HP:0001896 Reticulocytopenia OMIM:612527 RPS17 6218 HP:0001972 Macrocytic anemia OMIM:612527 RPS17 6218 HP:0000006 Autosomal dominant inheritance ORPHANET:1425 XYLT1 64131 HP:0002650 Scoliosis ORPHANET:1425 XYLT1 64131 HP:0004279 Short palm ORPHANET:1425 XYLT1 64131 HP:0003042 Elbow dislocation ORPHANET:1425 XYLT1 64131 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:1425 XYLT1 64131 HP:0011362 Abnormal hair quantity ORPHANET:1425 XYLT1 64131 HP:0000592 Blue sclerae ORPHANET:1425 XYLT1 64131 HP:0003272 Abnormality of the hip bone ORPHANET:1425 XYLT1 64131 HP:0000944 Abnormality of the metaphyses ORPHANET:1425 XYLT1 64131 HP:0004209 Clinodactyly of the 5th finger ORPHANET:1425 XYLT1 64131 HP:0000520 Proptosis ORPHANET:1425 XYLT1 64131 HP:0001382 Joint hypermobility ORPHANET:1425 XYLT1 64131 HP:0002823 Abnormality of the femur ORPHANET:1425 XYLT1 64131 HP:0005280 Depressed nasal bridge ORPHANET:1425 XYLT1 64131 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:1425 XYLT1 64131 HP:0002999 Patellar dislocation ORPHANET:1425 XYLT1 64131 HP:0000499 Abnormality of the eyelashes ORPHANET:1425 XYLT1 64131 HP:0000470 Short neck ORPHANET:1425 XYLT1 64131 HP:0100543 Cognitive impairment ORPHANET:1425 XYLT1 64131 HP:0002816 Genu recurvatum ORPHANET:1425 XYLT1 64131 HP:0000463 Anteverted nares ORPHANET:1425 XYLT1 64131 HP:0005616 Accelerated skeletal maturation ORPHANET:1425 XYLT1 64131 HP:0000501 Glaucoma ORPHANET:1425 XYLT1 64131 HP:0004322 Short stature ORPHANET:1425 XYLT1 64131 HP:0002974 Radioulnar synostosis ORPHANET:1425 XYLT1 64131 HP:0100490 Camptodactyly of finger ORPHANET:1425 XYLT1 64131 HP:0001629 Ventricular septal defect ORPHANET:1425 XYLT1 64131 HP:0100625 Enlarged thorax ORPHANET:1425 CANT1 124583 HP:0002650 Scoliosis ORPHANET:1425 CANT1 124583 HP:0004279 Short palm ORPHANET:1425 CANT1 124583 HP:0003042 Elbow dislocation ORPHANET:1425 CANT1 124583 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:1425 CANT1 124583 HP:0011362 Abnormal hair quantity ORPHANET:1425 CANT1 124583 HP:0000592 Blue sclerae ORPHANET:1425 CANT1 124583 HP:0003272 Abnormality of the hip bone ORPHANET:1425 CANT1 124583 HP:0000944 Abnormality of the metaphyses ORPHANET:1425 CANT1 124583 HP:0004209 Clinodactyly of the 5th finger ORPHANET:1425 CANT1 124583 HP:0000520 Proptosis ORPHANET:1425 CANT1 124583 HP:0001382 Joint hypermobility ORPHANET:1425 CANT1 124583 HP:0002823 Abnormality of the femur ORPHANET:1425 CANT1 124583 HP:0005280 Depressed nasal bridge ORPHANET:1425 CANT1 124583 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:1425 CANT1 124583 HP:0002999 Patellar dislocation ORPHANET:1425 CANT1 124583 HP:0000499 Abnormality of the eyelashes ORPHANET:1425 CANT1 124583 HP:0000470 Short neck ORPHANET:1425 CANT1 124583 HP:0100543 Cognitive impairment ORPHANET:1425 CANT1 124583 HP:0002816 Genu recurvatum ORPHANET:1425 CANT1 124583 HP:0000463 Anteverted nares ORPHANET:1425 CANT1 124583 HP:0005616 Accelerated skeletal maturation ORPHANET:1425 CANT1 124583 HP:0000501 Glaucoma ORPHANET:1425 CANT1 124583 HP:0004322 Short stature ORPHANET:1425 CANT1 124583 HP:0002974 Radioulnar synostosis ORPHANET:1425 CANT1 124583 HP:0100490 Camptodactyly of finger ORPHANET:1425 CANT1 124583 HP:0001629 Ventricular septal defect ORPHANET:1425 CANT1 124583 HP:0100625 Enlarged thorax OMIM:613757 RAX2 84839 HP:0000608 Macular degeneration OMIM:615560 PAX1 5075 HP:0004467 Preauricular pit OMIM:615560 PAX1 5075 HP:0000689 Dental malocclusion OMIM:615560 PAX1 5075 HP:0007678 Lacrimal duct stenosis OMIM:615560 PAX1 5075 HP:0002342 Intellectual disability, moderate OMIM:615560 PAX1 5075 HP:0000007 Autosomal recessive inheritance OMIM:615560 PAX1 5075 HP:0000592 Blue sclerae OMIM:615560 PAX1 5075 HP:0000369 Low-set ears OMIM:615560 PAX1 5075 HP:0030084 Clinodactyly OMIM:615560 PAX1 5075 HP:0000522 Alacrima OMIM:615560 PAX1 5075 HP:0003691 Scapular winging OMIM:615560 PAX1 5075 HP:0000670 Carious teeth OMIM:615560 PAX1 5075 HP:0000410 Mixed hearing impairment OMIM:615560 PAX1 5075 HP:0001182 Tapered finger OMIM:615560 PAX1 5075 HP:0000308 Microretrognathia OMIM:606943 USH1G 124590 HP:0004646 Hypoplasia of the nasal bone OMIM:606943 USH1G 124590 HP:0000510 Retinitis pigmentosa OMIM:606943 USH1G 124590 HP:0000007 Autosomal recessive inheritance OMIM:606943 USH1G 124590 HP:0001751 Vestibular dysfunction OMIM:606943 USH1G 124590 HP:0000407 Sensorineural hearing impairment OMIM:304790 FOXP3 50943 HP:0002958 Immune dysregulation OMIM:304790 FOXP3 50943 HP:0001419 X-linked recessive inheritance OMIM:304790 FOXP3 50943 HP:0001890 Autoimmune hemolytic anemia OMIM:304790 FOXP3 50943 HP:0100651 Type I diabetes mellitus OMIM:304790 FOXP3 50943 HP:0001873 Thrombocytopenia OMIM:304790 FOXP3 50943 HP:0011473 Villous atrophy OMIM:304790 FOXP3 50943 HP:0002014 Diarrhea OMIM:304790 FOXP3 50943 HP:0002595 Ileus OMIM:304790 FOXP3 50943 HP:0002716 Lymphadenopathy OMIM:304790 FOXP3 50943 HP:0000964 Eczema OMIM:304790 FOXP3 50943 HP:0000821 Hypothyroidism OMIM:304790 FOXP3 50943 HP:0001880 Eosinophilia OMIM:602347 ABCB4 5244 HP:0006580 Portal fibrosis OMIM:602347 ABCB4 5244 HP:0001744 Splenomegaly OMIM:602347 ABCB4 5244 HP:0001394 Cirrhosis OMIM:602347 ABCB4 5244 HP:0001408 Bile duct proliferation OMIM:602347 ABCB4 5244 HP:0003593 Infantile onset OMIM:602347 ABCB4 5244 HP:0002014 Diarrhea OMIM:602347 ABCB4 5244 HP:0001406 Intrahepatic cholestasis OMIM:602347 ABCB4 5244 HP:0000952 Jaundice OMIM:602347 ABCB4 5244 HP:0000007 Autosomal recessive inheritance OMIM:602347 ABCB4 5244 HP:0002024 Malabsorption OMIM:602347 ABCB4 5244 HP:0002910 Elevated hepatic transaminases OMIM:602347 ABCB4 5244 HP:0002240 Hepatomegaly OMIM:602347 ABCB4 5244 HP:0000989 Pruritus OMIM:225500 EVC2 132884 HP:0001162 Postaxial hand polydactyly OMIM:225500 EVC2 132884 HP:0002967 Cubitus valgus OMIM:225500 EVC2 132884 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:225500 EVC2 132884 HP:0001241 Capitate-hamate fusion OMIM:225500 EVC2 132884 HP:0002866 Hypoplastic iliac wing OMIM:225500 EVC2 132884 HP:0000233 Thin vermilion border OMIM:225500 EVC2 132884 HP:0001631 Defect in the atrial septum OMIM:225500 EVC2 132884 HP:0010454 Acetabular spurs OMIM:225500 EVC2 132884 HP:0000684 Delayed eruption of teeth OMIM:225500 EVC2 132884 HP:0000486 Strabismus OMIM:225500 EVC2 132884 HP:0002857 Genu valgum OMIM:225500 EVC2 132884 HP:0001830 Postaxial foot polydactyly OMIM:225500 EVC2 132884 HP:0009826 Limb undergrowth OMIM:225500 EVC2 132884 HP:0000028 Cryptorchidism OMIM:225500 EVC2 132884 HP:0000774 Narrow chest OMIM:225500 EVC2 132884 HP:0010306 Short thorax OMIM:225500 EVC2 132884 HP:0006477 Abnormality of the alveolar ridges OMIM:225500 EVC2 132884 HP:0000047 Hypospadias OMIM:225500 EVC2 132884 HP:0011565 Common atrium OMIM:225500 EVC2 132884 HP:0000668 Hypodontia OMIM:225500 EVC2 132884 HP:0001674 Complete atrioventricular canal defect OMIM:225500 EVC2 132884 HP:0006035 Cone-shaped epiphyses of phalanges 2 to 5 OMIM:225500 EVC2 132884 HP:0000691 Microdontia OMIM:225500 EVC2 132884 HP:0008921 Neonatal short-limb short stature OMIM:225500 EVC2 132884 HP:0005048 Synostosis of carpal bones OMIM:225500 EVC2 132884 HP:0002097 Emphysema OMIM:225500 EVC2 132884 HP:0001654 Abnormality of the heart valves OMIM:225500 EVC2 132884 HP:0001762 Talipes equinovarus OMIM:225500 EVC2 132884 HP:0001696 Situs inversus totalis OMIM:225500 EVC2 132884 HP:0002750 Delayed skeletal maturation OMIM:225500 EVC2 132884 HP:0009882 Short distal phalanx of finger OMIM:225500 EVC2 132884 HP:0000695 Natal tooth OMIM:225500 EVC2 132884 HP:0011362 Abnormal hair quantity OMIM:225500 EVC2 132884 HP:0100543 Cognitive impairment OMIM:225500 EVC2 132884 HP:0000008 Abnormality of female internal genitalia OMIM:225500 EVC2 132884 HP:0000039 Epispadias OMIM:225500 EVC2 132884 HP:0000773 Short ribs OMIM:225500 EVC2 132884 HP:0005561 Abnormality of bone marrow cell morphology OMIM:225500 EVC2 132884 HP:0002164 Nail dysplasia OMIM:225500 EVC2 132884 HP:0000204 Cleft upper lip OMIM:225500 EVC2 132884 HP:0001305 Dandy-Walker malformation OMIM:225500 EVC2 132884 HP:0000968 Ectodermal dysplasia OMIM:225500 EVC2 132884 HP:0000888 Horizontal ribs OMIM:225500 EVC2 132884 HP:0003026 Short long bone OMIM:225500 EVC2 132884 HP:0001231 Abnormality of the fingernails OMIM:225500 EVC2 132884 HP:0001800 Hypoplastic toenails OMIM:225500 EVC2 132884 HP:0002488 Acute leukemia OMIM:225500 EVC2 132884 HP:0000007 Autosomal recessive inheritance OMIM:225500 EVC2 132884 HP:0008678 Renal hypoplasia/aplasia OMIM:225500 EVC2 132884 HP:0001629 Ventricular septal defect OMIM:225500 EVC2 132884 HP:0001249 Intellectual disability OMIM:225500 EVC2 132884 HP:0001511 Intrauterine growth retardation OMIM:225500 EVC2 132884 HP:0000768 Pectus carinatum OMIM:225500 EVC 2121 HP:0001162 Postaxial hand polydactyly OMIM:225500 EVC 2121 HP:0002967 Cubitus valgus OMIM:225500 EVC 2121 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:225500 EVC 2121 HP:0001241 Capitate-hamate fusion OMIM:225500 EVC 2121 HP:0002866 Hypoplastic iliac wing OMIM:225500 EVC 2121 HP:0000233 Thin vermilion border OMIM:225500 EVC 2121 HP:0001631 Defect in the atrial septum OMIM:225500 EVC 2121 HP:0010454 Acetabular spurs OMIM:225500 EVC 2121 HP:0000684 Delayed eruption of teeth OMIM:225500 EVC 2121 HP:0000486 Strabismus OMIM:225500 EVC 2121 HP:0002857 Genu valgum OMIM:225500 EVC 2121 HP:0001830 Postaxial foot polydactyly OMIM:225500 EVC 2121 HP:0009826 Limb undergrowth OMIM:225500 EVC 2121 HP:0000028 Cryptorchidism OMIM:225500 EVC 2121 HP:0000774 Narrow chest OMIM:225500 EVC 2121 HP:0010306 Short thorax OMIM:225500 EVC 2121 HP:0006477 Abnormality of the alveolar ridges OMIM:225500 EVC 2121 HP:0000047 Hypospadias OMIM:225500 EVC 2121 HP:0011565 Common atrium OMIM:225500 EVC 2121 HP:0000668 Hypodontia OMIM:225500 EVC 2121 HP:0001674 Complete atrioventricular canal defect OMIM:225500 EVC 2121 HP:0006035 Cone-shaped epiphyses of phalanges 2 to 5 OMIM:225500 EVC 2121 HP:0000691 Microdontia OMIM:225500 EVC 2121 HP:0008921 Neonatal short-limb short stature OMIM:225500 EVC 2121 HP:0005048 Synostosis of carpal bones OMIM:225500 EVC 2121 HP:0002097 Emphysema OMIM:225500 EVC 2121 HP:0001654 Abnormality of the heart valves OMIM:225500 EVC 2121 HP:0001762 Talipes equinovarus OMIM:225500 EVC 2121 HP:0001696 Situs inversus totalis OMIM:225500 EVC 2121 HP:0002750 Delayed skeletal maturation OMIM:225500 EVC 2121 HP:0009882 Short distal phalanx of finger OMIM:225500 EVC 2121 HP:0000695 Natal tooth OMIM:225500 EVC 2121 HP:0011362 Abnormal hair quantity OMIM:225500 EVC 2121 HP:0100543 Cognitive impairment OMIM:225500 EVC 2121 HP:0000008 Abnormality of female internal genitalia OMIM:225500 EVC 2121 HP:0000039 Epispadias OMIM:225500 EVC 2121 HP:0000773 Short ribs OMIM:225500 EVC 2121 HP:0005561 Abnormality of bone marrow cell morphology OMIM:225500 EVC 2121 HP:0002164 Nail dysplasia OMIM:225500 EVC 2121 HP:0000204 Cleft upper lip OMIM:225500 EVC 2121 HP:0001305 Dandy-Walker malformation OMIM:225500 EVC 2121 HP:0000968 Ectodermal dysplasia OMIM:225500 EVC 2121 HP:0000888 Horizontal ribs OMIM:225500 EVC 2121 HP:0003026 Short long bone OMIM:225500 EVC 2121 HP:0001231 Abnormality of the fingernails OMIM:225500 EVC 2121 HP:0001800 Hypoplastic toenails OMIM:225500 EVC 2121 HP:0002488 Acute leukemia OMIM:225500 EVC 2121 HP:0000007 Autosomal recessive inheritance OMIM:225500 EVC 2121 HP:0008678 Renal hypoplasia/aplasia OMIM:225500 EVC 2121 HP:0001629 Ventricular septal defect OMIM:225500 EVC 2121 HP:0001249 Intellectual disability OMIM:225500 EVC 2121 HP:0001511 Intrauterine growth retardation OMIM:225500 EVC 2121 HP:0000768 Pectus carinatum ORPHANET:281122 TGM1 7051 HP:0008064 Ichthyosis ORPHANET:281122 TGM1 7051 HP:0001376 Limitation of joint mobility ORPHANET:281122 ALOXE3 59344 HP:0008064 Ichthyosis ORPHANET:281122 ALOXE3 59344 HP:0001376 Limitation of joint mobility ORPHANET:281122 ALOX12B 242 HP:0008064 Ichthyosis ORPHANET:281122 ALOX12B 242 HP:0001376 Limitation of joint mobility OMIM:202200 MC2R 4158 HP:0000098 Tall stature OMIM:202200 MC2R 4158 HP:0008163 Decreased circulating cortisol level OMIM:202200 MC2R 4158 HP:0000953 Hyperpigmentation of the skin OMIM:202200 MC2R 4158 HP:0000007 Autosomal recessive inheritance OMIM:202200 MC2R 4158 HP:0001988 Recurrent hypoglycemia OMIM:202200 MC2R 4158 HP:0001508 Failure to thrive OMIM:202200 MC2R 4158 HP:0003154 Increased circulating ACTH level OMIM:202200 MC2R 4158 HP:0005616 Accelerated skeletal maturation OMIM:202200 MC2R 4158 HP:0001250 Seizures OMIM:202200 MC2R 4158 HP:0002719 Recurrent infections OMIM:202200 MC2R 4158 HP:0001259 Coma OMIM:612160 CREB1 1385 HP:0001428 Somatic mutation OMIM:612160 CREB1 1385 HP:0012315 Histiocytoma OMIM:601680 MYH3 4621 HP:0001848 Calcaneovalgus deformity OMIM:601680 MYH3 4621 HP:0001193 Ulnar deviation of the hand or of fingers of the hand OMIM:601680 MYH3 4621 HP:0008368 Tarsal synostosis OMIM:601680 MYH3 4621 HP:0002650 Scoliosis OMIM:601680 MYH3 4621 HP:0000006 Autosomal dominant inheritance OMIM:601680 MYH3 4621 HP:0000303 Mandibular prognathia OMIM:601680 MYH3 4621 HP:0000954 Single transverse palmar crease OMIM:601680 MYH3 4621 HP:0005684 Distal arthrogryposis OMIM:601680 MYH3 4621 HP:0003422 Vertebral segmentation defect OMIM:601680 MYH3 4621 HP:0000347 Micrognathia OMIM:601680 MYH3 4621 HP:0005105 Abnormal nasal morphology OMIM:601680 MYH3 4621 HP:0100830 Round ear OMIM:601680 MYH3 4621 HP:0000431 Wide nasal bridge OMIM:601680 MYH3 4621 HP:0000494 Downslanted palpebral fissures OMIM:601680 MYH3 4621 HP:0001840 Metatarsus adductus OMIM:601680 MYH3 4621 HP:0005272 Prominent nasolabial fold OMIM:601680 MYH3 4621 HP:0000174 Abnormality of the palate OMIM:601680 MYH3 4621 HP:0000470 Short neck OMIM:601680 MYH3 4621 HP:0000218 High palate OMIM:601680 MYH3 4621 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:601680 MYH3 4621 HP:0000598 Abnormality of the ear OMIM:601680 MYH3 4621 HP:0000465 Webbed neck OMIM:601680 MYH3 4621 HP:0000275 Narrow face OMIM:601680 MYH3 4621 HP:0001762 Talipes equinovarus OMIM:601680 MYH3 4621 HP:0003272 Abnormality of the hip bone OMIM:601680 MYH3 4621 HP:0003049 Ulnar deviation of the wrist OMIM:601680 MYH3 4621 HP:0100490 Camptodactyly of finger OMIM:601680 MYH3 4621 HP:0000343 Long philtrum OMIM:601680 MYH3 4621 HP:0004322 Short stature OMIM:601680 MYH3 4621 HP:0001376 Limitation of joint mobility OMIM:601680 MYH3 4621 HP:0000160 Narrow mouth OMIM:601680 MYH3 4621 HP:0000325 Triangular face OMIM:601680 MYH3 4621 HP:0006109 Absent phalangeal crease OMIM:601680 MYH3 4621 HP:0002804 Arthrogryposis multiplex congenita OMIM:601680 MYH3 4621 HP:0001181 Adducted thumb OMIM:601680 MYH3 4621 HP:0009465 Ulnar deviation of finger OMIM:601680 MYH3 4621 HP:0001838 Rocker bottom foot OMIM:601680 TNNI2 7136 HP:0001848 Calcaneovalgus deformity OMIM:601680 TNNI2 7136 HP:0001193 Ulnar deviation of the hand or of fingers of the hand OMIM:601680 TNNI2 7136 HP:0008368 Tarsal synostosis OMIM:601680 TNNI2 7136 HP:0002650 Scoliosis OMIM:601680 TNNI2 7136 HP:0000006 Autosomal dominant inheritance OMIM:601680 TNNI2 7136 HP:0000303 Mandibular prognathia OMIM:601680 TNNI2 7136 HP:0000954 Single transverse palmar crease OMIM:601680 TNNI2 7136 HP:0005684 Distal arthrogryposis OMIM:601680 TNNI2 7136 HP:0003422 Vertebral segmentation defect OMIM:601680 TNNI2 7136 HP:0000347 Micrognathia OMIM:601680 TNNI2 7136 HP:0005105 Abnormal nasal morphology OMIM:601680 TNNI2 7136 HP:0100830 Round ear OMIM:601680 TNNI2 7136 HP:0000431 Wide nasal bridge OMIM:601680 TNNI2 7136 HP:0000494 Downslanted palpebral fissures OMIM:601680 TNNI2 7136 HP:0001840 Metatarsus adductus OMIM:601680 TNNI2 7136 HP:0005272 Prominent nasolabial fold OMIM:601680 TNNI2 7136 HP:0000174 Abnormality of the palate OMIM:601680 TNNI2 7136 HP:0000470 Short neck OMIM:601680 TNNI2 7136 HP:0000218 High palate OMIM:601680 TNNI2 7136 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:601680 TNNI2 7136 HP:0000598 Abnormality of the ear OMIM:601680 TNNI2 7136 HP:0000465 Webbed neck OMIM:601680 TNNI2 7136 HP:0000275 Narrow face OMIM:601680 TNNI2 7136 HP:0001762 Talipes equinovarus OMIM:601680 TNNI2 7136 HP:0003272 Abnormality of the hip bone OMIM:601680 TNNI2 7136 HP:0003049 Ulnar deviation of the wrist OMIM:601680 TNNI2 7136 HP:0100490 Camptodactyly of finger OMIM:601680 TNNI2 7136 HP:0000343 Long philtrum OMIM:601680 TNNI2 7136 HP:0004322 Short stature OMIM:601680 TNNI2 7136 HP:0001376 Limitation of joint mobility OMIM:601680 TNNI2 7136 HP:0000160 Narrow mouth OMIM:601680 TNNI2 7136 HP:0000325 Triangular face OMIM:601680 TNNI2 7136 HP:0006109 Absent phalangeal crease OMIM:601680 TNNI2 7136 HP:0002804 Arthrogryposis multiplex congenita OMIM:601680 TNNI2 7136 HP:0001181 Adducted thumb OMIM:601680 TNNI2 7136 HP:0009465 Ulnar deviation of finger OMIM:601680 TNNI2 7136 HP:0001838 Rocker bottom foot OMIM:601680 TPM2 7169 HP:0001848 Calcaneovalgus deformity OMIM:601680 TPM2 7169 HP:0001193 Ulnar deviation of the hand or of fingers of the hand OMIM:601680 TPM2 7169 HP:0008368 Tarsal synostosis OMIM:601680 TPM2 7169 HP:0002650 Scoliosis OMIM:601680 TPM2 7169 HP:0000006 Autosomal dominant inheritance OMIM:601680 TPM2 7169 HP:0000303 Mandibular prognathia OMIM:601680 TPM2 7169 HP:0000954 Single transverse palmar crease OMIM:601680 TPM2 7169 HP:0005684 Distal arthrogryposis OMIM:601680 TPM2 7169 HP:0003422 Vertebral segmentation defect OMIM:601680 TPM2 7169 HP:0000347 Micrognathia OMIM:601680 TPM2 7169 HP:0005105 Abnormal nasal morphology OMIM:601680 TPM2 7169 HP:0100830 Round ear OMIM:601680 TPM2 7169 HP:0000431 Wide nasal bridge OMIM:601680 TPM2 7169 HP:0000494 Downslanted palpebral fissures OMIM:601680 TPM2 7169 HP:0001840 Metatarsus adductus OMIM:601680 TPM2 7169 HP:0005272 Prominent nasolabial fold OMIM:601680 TPM2 7169 HP:0000174 Abnormality of the palate OMIM:601680 TPM2 7169 HP:0000470 Short neck OMIM:601680 TPM2 7169 HP:0000218 High palate OMIM:601680 TPM2 7169 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:601680 TPM2 7169 HP:0000598 Abnormality of the ear OMIM:601680 TPM2 7169 HP:0000465 Webbed neck OMIM:601680 TPM2 7169 HP:0000275 Narrow face OMIM:601680 TPM2 7169 HP:0001762 Talipes equinovarus OMIM:601680 TPM2 7169 HP:0003272 Abnormality of the hip bone OMIM:601680 TPM2 7169 HP:0003049 Ulnar deviation of the wrist OMIM:601680 TPM2 7169 HP:0100490 Camptodactyly of finger OMIM:601680 TPM2 7169 HP:0000343 Long philtrum OMIM:601680 TPM2 7169 HP:0004322 Short stature OMIM:601680 TPM2 7169 HP:0001376 Limitation of joint mobility OMIM:601680 TPM2 7169 HP:0000160 Narrow mouth OMIM:601680 TPM2 7169 HP:0000325 Triangular face OMIM:601680 TPM2 7169 HP:0006109 Absent phalangeal crease OMIM:601680 TPM2 7169 HP:0002804 Arthrogryposis multiplex congenita OMIM:601680 TPM2 7169 HP:0001181 Adducted thumb OMIM:601680 TPM2 7169 HP:0009465 Ulnar deviation of finger OMIM:601680 TPM2 7169 HP:0001838 Rocker bottom foot OMIM:601680 TNNT3 7140 HP:0001848 Calcaneovalgus deformity OMIM:601680 TNNT3 7140 HP:0001193 Ulnar deviation of the hand or of fingers of the hand OMIM:601680 TNNT3 7140 HP:0008368 Tarsal synostosis OMIM:601680 TNNT3 7140 HP:0002650 Scoliosis OMIM:601680 TNNT3 7140 HP:0000006 Autosomal dominant inheritance OMIM:601680 TNNT3 7140 HP:0000303 Mandibular prognathia OMIM:601680 TNNT3 7140 HP:0000954 Single transverse palmar crease OMIM:601680 TNNT3 7140 HP:0005684 Distal arthrogryposis OMIM:601680 TNNT3 7140 HP:0003422 Vertebral segmentation defect OMIM:601680 TNNT3 7140 HP:0000347 Micrognathia OMIM:601680 TNNT3 7140 HP:0005105 Abnormal nasal morphology OMIM:601680 TNNT3 7140 HP:0100830 Round ear OMIM:601680 TNNT3 7140 HP:0000431 Wide nasal bridge OMIM:601680 TNNT3 7140 HP:0000494 Downslanted palpebral fissures OMIM:601680 TNNT3 7140 HP:0001840 Metatarsus adductus OMIM:601680 TNNT3 7140 HP:0005272 Prominent nasolabial fold OMIM:601680 TNNT3 7140 HP:0000174 Abnormality of the palate OMIM:601680 TNNT3 7140 HP:0000470 Short neck OMIM:601680 TNNT3 7140 HP:0000218 High palate OMIM:601680 TNNT3 7140 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:601680 TNNT3 7140 HP:0000598 Abnormality of the ear OMIM:601680 TNNT3 7140 HP:0000465 Webbed neck OMIM:601680 TNNT3 7140 HP:0000275 Narrow face OMIM:601680 TNNT3 7140 HP:0001762 Talipes equinovarus OMIM:601680 TNNT3 7140 HP:0003272 Abnormality of the hip bone OMIM:601680 TNNT3 7140 HP:0003049 Ulnar deviation of the wrist OMIM:601680 TNNT3 7140 HP:0100490 Camptodactyly of finger OMIM:601680 TNNT3 7140 HP:0000343 Long philtrum OMIM:601680 TNNT3 7140 HP:0004322 Short stature OMIM:601680 TNNT3 7140 HP:0001376 Limitation of joint mobility OMIM:601680 TNNT3 7140 HP:0000160 Narrow mouth OMIM:601680 TNNT3 7140 HP:0000325 Triangular face OMIM:601680 TNNT3 7140 HP:0006109 Absent phalangeal crease OMIM:601680 TNNT3 7140 HP:0002804 Arthrogryposis multiplex congenita OMIM:601680 TNNT3 7140 HP:0001181 Adducted thumb OMIM:601680 TNNT3 7140 HP:0009465 Ulnar deviation of finger OMIM:601680 TNNT3 7140 HP:0001838 Rocker bottom foot OMIM:605041 CYLD 1540 HP:0003581 Adult onset OMIM:605041 CYLD 1540 HP:0002664 Neoplasm OMIM:605041 CYLD 1540 HP:0001056 Milia OMIM:605041 CYLD 1540 HP:0000006 Autosomal dominant inheritance OMIM:300514 FANCB 2187 HP:0000104 Renal agenesis OMIM:300514 FANCB 2187 HP:0003220 Abnormality of chromosome stability OMIM:300514 FANCB 2187 HP:0003974 Absent radius OMIM:300514 FANCB 2187 HP:0003468 Abnormality of the vertebrae OMIM:300514 FANCB 2187 HP:0001419 X-linked recessive inheritance OMIM:300514 FANCB 2187 HP:0009777 Absent thumb OMIM:300514 FANCB 2187 HP:0006525 Lung segmentation defects OMIM:300514 FANCB 2187 HP:0000369 Low-set ears OMIM:300514 FANCB 2187 HP:0002119 Ventriculomegaly OMIM:300514 FANCB 2187 HP:0001510 Growth delay OMIM:300514 FANCB 2187 HP:0002575 Tracheoesophageal fistula OMIM:300514 FANCB 2187 HP:0001903 Anemia OMIM:608673 HSPB8 26353 HP:0003444 EMG: chronic denervation signs OMIM:608673 HSPB8 26353 HP:0001265 Hyporeflexia OMIM:608673 HSPB8 26353 HP:0003693 Distal amyotrophy OMIM:608673 HSPB8 26353 HP:0003477 Peripheral axonal neuropathy OMIM:608673 HSPB8 26353 HP:0002936 Distal sensory impairment OMIM:608673 HSPB8 26353 HP:0002460 Distal muscle weakness OMIM:608673 HSPB8 26353 HP:0002650 Scoliosis OMIM:608673 HSPB8 26353 HP:0003387 Decreased number of large peripheral myelinated nerve fibers OMIM:608673 HSPB8 26353 HP:0000006 Autosomal dominant inheritance OMIM:608673 HSPB8 26353 HP:0001761 Pes cavus OMIM:608673 HSPB8 26353 HP:0007078 Decreased amplitude of sensory action potentials OMIM:608673 HSPB8 26353 HP:0001284 Areflexia OMIM:516000 ND1 4535 HP:0002315 Headache OMIM:516000 ND1 4535 HP:0001939 Abnormality of metabolism/homeostasis OMIM:516000 ND1 4535 HP:0000543 Optic disc pallor OMIM:516000 ND1 4535 HP:0001085 Papilledema OMIM:516000 ND1 4535 HP:0001427 Mitochondrial inheritance OMIM:516000 ND1 4535 HP:0003674 Onset OMIM:516000 ND1 4535 HP:0001129 Large central visual field defect OMIM:516000 ND1 4535 HP:0001112 Leber optic atrophy OMIM:516000 ND1 4535 HP:0001117 Sudden central visual loss OMIM:179850 KRT5 3852 HP:0000006 Autosomal dominant inheritance OMIM:179850 KRT5 3852 HP:0007456 Progressive reticulate hyperpigmentation OMIM:615986 BBS9 27241 HP:0000510 Retinitis pigmentosa OMIM:615986 BBS9 27241 HP:0001249 Intellectual disability OMIM:615986 BBS9 27241 HP:0010442 Polydactyly OMIM:615986 BBS9 27241 HP:0001513 Obesity OMIM:602668 CNBP 7555 HP:0001649 Tachycardia OMIM:602668 CNBP 7555 HP:0007889 Iridescent posterior subcapsular cataract OMIM:602668 CNBP 7555 HP:0003326 Myalgia OMIM:602668 CNBP 7555 HP:0003236 Elevated serum creatine phosphokinase OMIM:602668 CNBP 7555 HP:0000006 Autosomal dominant inheritance OMIM:602668 CNBP 7555 HP:0003722 Neck flexor weakness OMIM:602668 CNBP 7555 HP:0003701 Proximal muscle weakness OMIM:602668 CNBP 7555 HP:0002486 Myotonia OMIM:602668 CNBP 7555 HP:0003554 Type 2 muscle fiber atrophy OMIM:602668 CNBP 7555 HP:0000819 Diabetes mellitus OMIM:602668 CNBP 7555 HP:0008232 Elevated follicle stimulating hormone OMIM:602668 CNBP 7555 HP:0008189 Insulin insensitivity OMIM:602668 CNBP 7555 HP:0000518 Cataract OMIM:602668 CNBP 7555 HP:0001962 Palpitations OMIM:602668 CNBP 7555 HP:0002850 IgM deficiency OMIM:602668 CNBP 7555 HP:0004315 IgG deficiency OMIM:602668 CNBP 7555 HP:0000135 Hypogonadism OMIM:602668 CNBP 7555 HP:0000798 Oligospermia OMIM:602668 CNBP 7555 HP:0002292 Frontal balding OMIM:216900 CNGA3 1261 HP:0000618 Blindness OMIM:216900 CNGA3 1261 HP:0000639 Nystagmus OMIM:216900 CNGA3 1261 HP:0000613 Photophobia OMIM:216900 CNGA3 1261 HP:0000007 Autosomal recessive inheritance OMIM:216900 CNGA3 1261 HP:0011516 Rod monochromacy OMIM:614188 IL11RA 3590 HP:0000327 Hypoplasia of the maxilla OMIM:614188 IL11RA 3590 HP:0000684 Delayed eruption of teeth OMIM:614188 IL11RA 3590 HP:0001159 Syndactyly OMIM:614188 IL11RA 3590 HP:0001085 Papilledema OMIM:614188 IL11RA 3590 HP:0030084 Clinodactyly OMIM:614188 IL11RA 3590 HP:0000248 Brachycephaly OMIM:614188 IL11RA 3590 HP:0011069 Increased number of teeth OMIM:614188 IL11RA 3590 HP:0000243 Trigonocephaly OMIM:614188 IL11RA 3590 HP:0000268 Dolichocephaly OMIM:614188 IL11RA 3590 HP:0001822 Hallux valgus OMIM:614188 IL11RA 3590 HP:0000007 Autosomal recessive inheritance OMIM:614188 IL11RA 3590 HP:0100798 Fingernail dysplasia OMIM:614188 IL11RA 3590 HP:0009803 Short phalanx of finger OMIM:614188 IL11RA 3590 HP:0000316 Hypertelorism OMIM:614188 IL11RA 3590 HP:0000262 Turricephaly OMIM:614188 IL11RA 3590 HP:0001363 Craniosynostosis OMIM:613077 RRM2B 50484 HP:0000365 Hearing impairment OMIM:613077 RRM2B 50484 HP:0003546 Exercise intolerance OMIM:613077 RRM2B 50484 HP:0000508 Ptosis OMIM:613077 RRM2B 50484 HP:0002066 Gait ataxia OMIM:613077 RRM2B 50484 HP:0001265 Hyporeflexia OMIM:613077 RRM2B 50484 HP:0001260 Dysarthria OMIM:613077 RRM2B 50484 HP:0000590 Progressive external ophthalmoplegia OMIM:613077 RRM2B 50484 HP:0000501 Glaucoma OMIM:613077 RRM2B 50484 HP:0000006 Autosomal dominant inheritance OMIM:613077 RRM2B 50484 HP:0002015 Dysphagia OMIM:613077 RRM2B 50484 HP:0003689 Multiple mitochondrial DNA deletions OMIM:613077 RRM2B 50484 HP:0003750 Increased muscle fatiguability OMIM:613077 RRM2B 50484 HP:0000739 Anxiety OMIM:300707 FAM58A 92002 HP:0000625 Cleft eyelid OMIM:300707 FAM58A 92002 HP:0008572 External ear malformation OMIM:300707 FAM58A 92002 HP:0003396 Syringomyelia OMIM:300707 FAM58A 92002 HP:0000545 Myopia OMIM:300707 FAM58A 92002 HP:0001718 Mitral stenosis OMIM:300707 FAM58A 92002 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:300707 FAM58A 92002 HP:0010458 Female pseudohermaphroditism OMIM:300707 FAM58A 92002 HP:0001770 Toe syndactyly OMIM:300707 FAM58A 92002 HP:0000233 Thin vermilion border OMIM:300707 FAM58A 92002 HP:0001646 Abnormality of the aortic valve OMIM:300707 FAM58A 92002 HP:0000506 Telecanthus OMIM:300707 FAM58A 92002 HP:0004414 Abnormality of the pulmonary artery OMIM:300707 FAM58A 92002 HP:0004322 Short stature OMIM:300707 FAM58A 92002 HP:0100589 Urogenital fistula OMIM:300707 FAM58A 92002 HP:0004122 Midline defect of the nose OMIM:300707 FAM58A 92002 HP:0001250 Seizures OMIM:300707 FAM58A 92002 HP:0000083 Renal insufficiency OMIM:300707 FAM58A 92002 HP:0008678 Renal hypoplasia/aplasia OMIM:300707 FAM58A 92002 HP:0001103 Abnormality of the macula OMIM:300707 FAM58A 92002 HP:0001671 Abnormality of the cardiac septa OMIM:300707 FAM58A 92002 HP:0000532 Chorioretinal abnormality OMIM:300707 FAM58A 92002 HP:0004209 Clinodactyly of the 5th finger OMIM:300707 FAM58A 92002 HP:0000076 Vesicoureteral reflux OMIM:300707 FAM58A 92002 HP:0000008 Abnormality of female internal genitalia OMIM:300707 FAM58A 92002 HP:0100542 Abnormal localization of kidney OMIM:300555 OCRL 4952 HP:0011463 Childhood onset OMIM:300555 OCRL 4952 HP:0000114 Proximal tubulopathy OMIM:300555 OCRL 4952 HP:0001263 Global developmental delay OMIM:300555 OCRL 4952 HP:0004322 Short stature OMIM:300555 OCRL 4952 HP:0002150 Hypercalciuria OMIM:300555 OCRL 4952 HP:0001537 Umbilical hernia OMIM:300555 OCRL 4952 HP:0001419 X-linked recessive inheritance OMIM:300555 OCRL 4952 HP:0012622 Chronic kidney disease OMIM:300555 OCRL 4952 HP:0000121 Nephrocalcinosis OMIM:300555 OCRL 4952 HP:0003236 Elevated serum creatine phosphokinase OMIM:300555 OCRL 4952 HP:0003355 Aminoaciduria OMIM:300555 OCRL 4952 HP:0100543 Cognitive impairment OMIM:300555 OCRL 4952 HP:0003126 Low-molecular-weight proteinuria OMIM:231530 HADH 3033 HP:0004448 Fulminant hepatic failure OMIM:231530 HADH 3033 HP:0001639 Hypertrophic cardiomyopathy OMIM:231530 HADH 3033 HP:0006929 Hypoglycemic encephalopathy OMIM:231530 HADH 3033 HP:0001985 Hypoketotic hypoglycemia OMIM:231530 HADH 3033 HP:0003215 Dicarboxylic aciduria OMIM:231530 HADH 3033 HP:0002913 Myoglobinuria OMIM:231530 HADH 3033 HP:0008872 Feeding difficulties in infancy OMIM:231530 HADH 3033 HP:0001397 Hepatic steatosis OMIM:231530 HADH 3033 HP:0001510 Growth delay OMIM:231530 HADH 3033 HP:0001644 Dilated cardiomyopathy OMIM:231530 HADH 3033 HP:0002173 Hypoglycemic seizures OMIM:231530 HADH 3033 HP:0001252 Muscular hypotonia OMIM:231530 HADH 3033 HP:0002605 Hepatic necrosis OMIM:231530 HADH 3033 HP:0003812 Phenotypic variability OMIM:231530 HADH 3033 HP:0000007 Autosomal recessive inheritance OMIM:610828 PTCH1 5727 HP:0000601 Hypotelorism OMIM:610828 PTCH1 5727 HP:0001263 Global developmental delay OMIM:610828 PTCH1 5727 HP:0002007 Frontal bossing OMIM:610828 PTCH1 5727 HP:0000006 Autosomal dominant inheritance OMIM:610828 PTCH1 5727 HP:0002744 Bilateral cleft lip and palate OMIM:610828 PTCH1 5727 HP:0005273 Absent nasal septal cartilage OMIM:610828 PTCH1 5727 HP:0010649 Flat nasal alae OMIM:610828 PTCH1 5727 HP:0003196 Short nose OMIM:610828 PTCH1 5727 HP:0010663 Abnormality of thalamus morphology OMIM:610828 PTCH1 5727 HP:0000689 Dental malocclusion OMIM:610828 PTCH1 5727 HP:0000316 Hypertelorism OMIM:610828 PTCH1 5727 HP:0000437 Depressed nasal tip OMIM:610828 PTCH1 5727 HP:0001539 Omphalocele OMIM:610828 PTCH1 5727 HP:0005326 Hypoplastic philtrum OMIM:610828 PTCH1 5727 HP:0006315 Single median maxillary incisor OMIM:610828 PTCH1 5727 HP:0000871 Panhypopituitarism OMIM:610828 PTCH1 5727 HP:0000400 Macrotia OMIM:610828 PTCH1 5727 HP:0000256 Macrocephaly OMIM:610828 PTCH1 5727 HP:0002507 Semilobar holoprosencephaly OMIM:610828 PTCH1 5727 HP:0000242 Parietal bossing OMIM:610828 PTCH1 5727 HP:0004122 Midline defect of the nose OMIM:610828 PTCH1 5727 HP:0008501 Median cleft lip and palate OMIM:610828 PTCH1 5727 HP:0005469 Flat occiput OMIM:610828 PTCH1 5727 HP:0010650 Premaxillary underdevelopment OMIM:610828 PTCH1 5727 HP:0000327 Hypoplasia of the maxilla OMIM:610828 PTCH1 5727 HP:0000283 Broad face OMIM:610828 PTCH1 5727 HP:0001274 Agenesis of corpus callosum OMIM:610828 PTCH1 5727 HP:0007633 Bilateral microphthalmos OMIM:616127 CWF19L1 55280 HP:0001252 Muscular hypotonia OMIM:616127 CWF19L1 55280 HP:0001260 Dysarthria OMIM:616127 CWF19L1 55280 HP:0001249 Intellectual disability OMIM:616127 CWF19L1 55280 HP:0002078 Truncal ataxia OMIM:616127 CWF19L1 55280 HP:0002317 Unsteady gait OMIM:616127 CWF19L1 55280 HP:0001263 Global developmental delay OMIM:616127 CWF19L1 55280 HP:0001310 Dysmetria OMIM:616045 ATP5A1 498 HP:0002092 Pulmonary hypertension OMIM:616045 ATP5A1 498 HP:0001508 Failure to thrive OMIM:616045 ATP5A1 498 HP:0001298 Encephalopathy OMIM:616045 ATP5A1 498 HP:0001252 Muscular hypotonia OMIM:616045 ATP5A1 498 HP:0000252 Microcephaly OMIM:616045 ATP5A1 498 HP:0003348 Hyperalaninemia OMIM:616045 ATP5A1 498 HP:0001250 Seizures OMIM:616045 ATP5A1 498 HP:0001511 Intrauterine growth retardation OMIM:616045 ATP5A1 498 HP:0001635 Congestive heart failure OMIM:300653 PGK1 5230 HP:0001263 Global developmental delay OMIM:300653 PGK1 5230 HP:0003198 Myopathy OMIM:300653 PGK1 5230 HP:0000712 Emotional lability OMIM:300653 PGK1 5230 HP:0002076 Migraine OMIM:300653 PGK1 5230 HP:0008305 Exercise-induced myoglobinuria OMIM:300653 PGK1 5230 HP:0000572 Visual loss OMIM:300653 PGK1 5230 HP:0000083 Renal insufficiency OMIM:300653 PGK1 5230 HP:0003710 Exercise-induced muscle cramps OMIM:300653 PGK1 5230 HP:0001923 Reticulocytosis OMIM:300653 PGK1 5230 HP:0001251 Ataxia OMIM:300653 PGK1 5230 HP:0001419 X-linked recessive inheritance OMIM:300653 PGK1 5230 HP:0003546 Exercise intolerance OMIM:300653 PGK1 5230 HP:0003812 Phenotypic variability OMIM:300653 PGK1 5230 HP:0001250 Seizures OMIM:300653 PGK1 5230 HP:0001249 Intellectual disability OMIM:300653 PGK1 5230 HP:0003201 Rhabdomyolysis OMIM:300653 PGK1 5230 HP:0000556 Retinal dystrophy OMIM:300653 PGK1 5230 HP:0000750 Delayed speech and language development OMIM:300653 PGK1 5230 HP:0001878 Hemolytic anemia ORPHANET:461 STS 412 HP:0000962 Hyperkeratosis ORPHANET:461 STS 412 HP:0007759 Opacification of the corneal stroma ORPHANET:461 STS 412 HP:0000958 Dry skin ORPHANET:461 STS 412 HP:0002167 Neurological speech impairment ORPHANET:461 STS 412 HP:0007018 Attention deficit hyperactivity disorder ORPHANET:461 STS 412 HP:0000966 Hypohidrosis ORPHANET:461 STS 412 HP:0000028 Cryptorchidism ORPHANET:461 STS 412 HP:0008064 Ichthyosis ORPHANET:461 STS 412 HP:0000717 Autism OMIM:213700 CYP27A1 1593 HP:0000543 Optic disc pallor OMIM:213700 CYP27A1 1593 HP:0100543 Cognitive impairment OMIM:213700 CYP27A1 1593 HP:0002518 Abnormality of the periventricular white matter OMIM:213700 CYP27A1 1593 HP:0009830 Peripheral neuropathy OMIM:213700 CYP27A1 1593 HP:0002167 Neurological speech impairment OMIM:213700 CYP27A1 1593 HP:0000518 Cataract OMIM:213700 CYP27A1 1593 HP:0002353 EEG abnormality OMIM:213700 CYP27A1 1593 HP:0001324 Muscle weakness OMIM:213700 CYP27A1 1593 HP:0002071 Abnormality of extrapyramidal motor function OMIM:213700 CYP27A1 1593 HP:0000738 Hallucinations OMIM:213700 CYP27A1 1593 HP:0002014 Diarrhea OMIM:213700 CYP27A1 1593 HP:0001114 Xanthelasma OMIM:213700 CYP27A1 1593 HP:0100291 Abnormality of central somatosensory evoked potentials OMIM:213700 CYP27A1 1593 HP:0002093 Respiratory insufficiency OMIM:213700 CYP27A1 1593 HP:0004305 Involuntary movements OMIM:213700 CYP27A1 1593 HP:0007256 Abnormal pyramidal signs OMIM:213700 CYP27A1 1593 HP:0001347 Hyperreflexia OMIM:213700 CYP27A1 1593 HP:0001257 Spasticity OMIM:213700 CYP27A1 1593 HP:0007024 Pseudobulbar paralysis OMIM:213700 CYP27A1 1593 HP:0001658 Myocardial infarction OMIM:213700 CYP27A1 1593 HP:0000007 Autosomal recessive inheritance OMIM:213700 CYP27A1 1593 HP:0002059 Cerebral atrophy OMIM:213700 CYP27A1 1593 HP:0001272 Cerebellar atrophy OMIM:213700 CYP27A1 1593 HP:0001337 Tremor OMIM:213700 CYP27A1 1593 HP:0001392 Abnormality of the liver OMIM:213700 CYP27A1 1593 HP:0002514 Cerebral calcification OMIM:213700 CYP27A1 1593 HP:0003482 EMG: axonal abnormality OMIM:213700 CYP27A1 1593 HP:0000787 Nephrolithiasis OMIM:213700 CYP27A1 1593 HP:0000726 Dementia OMIM:213700 CYP27A1 1593 HP:0000939 Osteoporosis OMIM:213700 CYP27A1 1593 HP:0001251 Ataxia OMIM:213700 CYP27A1 1593 HP:0001249 Intellectual disability OMIM:213700 CYP27A1 1593 HP:0001376 Limitation of joint mobility OMIM:213700 CYP27A1 1593 HP:0010845 EEG with generalized slow activity OMIM:213700 CYP27A1 1593 HP:0002024 Malabsorption OMIM:213700 CYP27A1 1593 HP:0001681 Angina pectoris OMIM:213700 CYP27A1 1593 HP:0001250 Seizures OMIM:213700 CYP27A1 1593 HP:0002376 Developmental regression OMIM:213700 CYP27A1 1593 HP:0001081 Cholelithiasis OMIM:213700 CYP27A1 1593 HP:0000746 Delusions OMIM:213700 CYP27A1 1593 HP:0010874 Tendon xanthomatosis OMIM:213700 CYP27A1 1593 HP:0001276 Hypertonia OMIM:213700 CYP27A1 1593 HP:0100321 Abnormality of the dentate nucleus OMIM:213700 CYP27A1 1593 HP:0001012 Multiple lipomas OMIM:213700 CYP27A1 1593 HP:0003107 Abnormality of cholesterol metabolism OMIM:616258 KIF14 9928 HP:0002804 Arthrogryposis multiplex congenita OMIM:616258 KIF14 9928 HP:0000369 Low-set ears OMIM:616258 KIF14 9928 HP:0000463 Anteverted nares OMIM:616258 KIF14 9928 HP:0000148 Vaginal atresia OMIM:616258 KIF14 9928 HP:0000193 Bifid uvula OMIM:616258 KIF14 9928 HP:0000252 Microcephaly OMIM:616258 KIF14 9928 HP:0000431 Wide nasal bridge OMIM:616258 KIF14 9928 HP:0000104 Renal agenesis OMIM:616258 KIF14 9928 HP:0001562 Oligohydramnios OMIM:616258 KIF14 9928 HP:0001511 Intrauterine growth retardation OMIM:616258 KIF14 9928 HP:0000089 Renal hypoplasia OMIM:616258 KIF14 9928 HP:0001274 Agenesis of corpus callosum OMIM:616258 KIF14 9928 HP:0006872 Cerebral hypoplasia OMIM:616258 KIF14 9928 HP:0000340 Sloping forehead OMIM:616258 KIF14 9928 HP:0000347 Micrognathia OMIM:616258 KIF14 9928 HP:0001838 Rocker bottom foot OMIM:616258 KIF14 9928 HP:0001321 Cerebellar hypoplasia OMIM:300367 GATA1 2623 HP:0001934 Persistent bleeding after trauma OMIM:300367 GATA1 2623 HP:0010972 Anemia of inadequate production OMIM:300367 GATA1 2623 HP:0003828 Variable expressivity OMIM:300367 GATA1 2623 HP:0003593 Infantile onset OMIM:300367 GATA1 2623 HP:0001927 Acanthocytosis OMIM:300367 GATA1 2623 HP:0001905 Congenital thrombocytopenia OMIM:300367 GATA1 2623 HP:0004447 Poikilocytosis OMIM:300367 GATA1 2623 HP:0000967 Petechiae OMIM:300367 GATA1 2623 HP:0001419 X-linked recessive inheritance OMIM:300367 GATA1 2623 HP:0000978 Bruising susceptibility OMIM:300367 GATA1 2623 HP:0000421 Epistaxis OMIM:614266 ASCC1 51008 HP:0100580 Barrett esophagus OMIM:614266 ASCC1 51008 HP:0001824 Weight loss OMIM:614266 ASCC1 51008 HP:0008872 Feeding difficulties in infancy OMIM:614266 ASCC1 51008 HP:0100749 Chest pain OMIM:614266 ASCC1 51008 HP:0001428 Somatic mutation OMIM:614266 ASCC1 51008 HP:0011459 Esophageal carcinoma OMIM:614266 ASCC1 51008 HP:0002716 Lymphadenopathy OMIM:614266 ASCC1 51008 HP:0002017 Nausea and vomiting OMIM:614266 ASCC1 51008 HP:0001513 Obesity OMIM:614266 MSR1 4481 HP:0100580 Barrett esophagus OMIM:614266 MSR1 4481 HP:0001824 Weight loss OMIM:614266 MSR1 4481 HP:0008872 Feeding difficulties in infancy OMIM:614266 MSR1 4481 HP:0100749 Chest pain OMIM:614266 MSR1 4481 HP:0001428 Somatic mutation OMIM:614266 MSR1 4481 HP:0011459 Esophageal carcinoma OMIM:614266 MSR1 4481 HP:0002716 Lymphadenopathy OMIM:614266 MSR1 4481 HP:0002017 Nausea and vomiting OMIM:614266 MSR1 4481 HP:0001513 Obesity OMIM:614266 CTHRC1 115908 HP:0100580 Barrett esophagus OMIM:614266 CTHRC1 115908 HP:0001824 Weight loss OMIM:614266 CTHRC1 115908 HP:0008872 Feeding difficulties in infancy OMIM:614266 CTHRC1 115908 HP:0100749 Chest pain OMIM:614266 CTHRC1 115908 HP:0001428 Somatic mutation OMIM:614266 CTHRC1 115908 HP:0011459 Esophageal carcinoma OMIM:614266 CTHRC1 115908 HP:0002716 Lymphadenopathy OMIM:614266 CTHRC1 115908 HP:0002017 Nausea and vomiting OMIM:614266 CTHRC1 115908 HP:0001513 Obesity OMIM:269880 PIK3R1 5295 HP:0000485 Megalocornea OMIM:269880 PIK3R1 5295 HP:0010669 Cheekbone underdevelopment OMIM:269880 PIK3R1 5295 HP:0000684 Delayed eruption of teeth OMIM:269880 PIK3R1 5295 HP:0001518 Small for gestational age OMIM:269880 PIK3R1 5295 HP:0000833 Glucose intolerance OMIM:269880 PIK3R1 5295 HP:0004209 Clinodactyly of the 5th finger OMIM:269880 PIK3R1 5295 HP:0003074 Hyperglycemia OMIM:269880 PIK3R1 5295 HP:0000545 Myopia OMIM:269880 PIK3R1 5295 HP:0008053 Aplasia/Hypoplasia of the iris OMIM:269880 PIK3R1 5295 HP:0000689 Dental malocclusion OMIM:269880 PIK3R1 5295 HP:0000787 Nephrolithiasis OMIM:269880 PIK3R1 5295 HP:0009125 Lipodystrophy OMIM:269880 PIK3R1 5295 HP:0001161 Hand polydactyly OMIM:269880 PIK3R1 5295 HP:0000819 Diabetes mellitus OMIM:269880 PIK3R1 5295 HP:0000682 Abnormality of dental enamel OMIM:269880 PIK3R1 5295 HP:0010751 Chin dimple OMIM:269880 PIK3R1 5295 HP:0000855 Insulin resistance OMIM:269880 PIK3R1 5295 HP:0000506 Telecanthus OMIM:269880 PIK3R1 5295 HP:0000490 Deeply set eye OMIM:269880 PIK3R1 5295 HP:0003272 Abnormality of the hip bone OMIM:269880 PIK3R1 5295 HP:0001511 Intrauterine growth retardation OMIM:269880 PIK3R1 5295 HP:0000501 Glaucoma OMIM:269880 PIK3R1 5295 HP:0010580 Enlarged epiphyses OMIM:269880 PIK3R1 5295 HP:0009124 Abnormality of adipose tissue OMIM:269880 PIK3R1 5295 HP:0000431 Wide nasal bridge OMIM:269880 PIK3R1 5295 HP:0100678 Premature skin wrinkling OMIM:269880 PIK3R1 5295 HP:0000615 Abnormality of the pupil OMIM:269880 PIK3R1 5295 HP:0011220 Prominent forehead OMIM:269880 PIK3R1 5295 HP:0000023 Inguinal hernia OMIM:269880 PIK3R1 5295 HP:0000593 Abnormality of the anterior chamber OMIM:269880 PIK3R1 5295 HP:0000272 Malar flattening OMIM:269880 PIK3R1 5295 HP:0000518 Cataract OMIM:269880 PIK3R1 5295 HP:0000407 Sensorineural hearing impairment OMIM:269880 PIK3R1 5295 HP:0002715 Abnormality of the immune system OMIM:269880 PIK3R1 5295 HP:0001824 Weight loss OMIM:269880 PIK3R1 5295 HP:0004299 Hernia of the abdominal wall OMIM:269880 PIK3R1 5295 HP:0002750 Delayed skeletal maturation OMIM:269880 PIK3R1 5295 HP:0000691 Microdontia OMIM:269880 PIK3R1 5295 HP:0000347 Micrognathia OMIM:269880 PIK3R1 5295 HP:0002167 Neurological speech impairment OMIM:269880 PIK3R1 5295 HP:0000006 Autosomal dominant inheritance OMIM:269880 PIK3R1 5295 HP:0004322 Short stature OMIM:269880 PIK3R1 5295 HP:0000558 Rieger anomaly OMIM:269880 PIK3R1 5295 HP:0000400 Macrotia OMIM:269880 PIK3R1 5295 HP:0000336 Prominent supraorbital ridges OMIM:269880 PIK3R1 5295 HP:0000325 Triangular face OMIM:269880 PIK3R1 5295 HP:0030084 Clinodactyly OMIM:269880 PIK3R1 5295 HP:0002007 Frontal bossing OMIM:269880 PIK3R1 5295 HP:0001156 Brachydactyly syndrome OMIM:269880 PIK3R1 5295 HP:0000430 Underdeveloped nasal alae OMIM:269880 PIK3R1 5295 HP:0002486 Myotonia OMIM:269880 PIK3R1 5295 HP:0011362 Abnormal hair quantity OMIM:269880 PIK3R1 5295 HP:0003561 Birth length less than 3rd percentile OMIM:269880 PIK3R1 5295 HP:0000316 Hypertelorism OMIM:269880 PIK3R1 5295 HP:0000831 Insulin-resistant diabetes mellitus OMIM:269880 PIK3R1 5295 HP:0000963 Thin skin OMIM:269880 PIK3R1 5295 HP:0007759 Opacification of the corneal stroma OMIM:269880 PIK3R1 5295 HP:0000627 Posterior embryotoxon OMIM:269880 PIK3R1 5295 HP:0001382 Joint hypermobility OMIM:269880 PIK3R1 5295 HP:0000668 Hypodontia OMIM:269880 PIK3R1 5295 HP:0009466 Radial deviation of finger OMIM:269880 PIK3R1 5295 HP:0000750 Delayed speech and language development OMIM:269880 PIK3R1 5295 HP:0001388 Joint laxity OMIM:276700 FAH 2184 HP:0001743 Abnormality of the spleen OMIM:276700 FAH 2184 HP:0002239 Gastrointestinal hemorrhage OMIM:276700 FAH 2184 HP:0006554 Acute hepatic failure OMIM:276700 FAH 2184 HP:0003768 Periodic paralysis OMIM:276700 FAH 2184 HP:0006254 Elevated alpha-fetoprotein OMIM:276700 FAH 2184 HP:0004912 Hypophosphatemic rickets OMIM:276700 FAH 2184 HP:0001744 Splenomegaly OMIM:276700 FAH 2184 HP:0004298 Abnormality of the abdominal wall OMIM:276700 FAH 2184 HP:0000105 Enlarged kidneys OMIM:276700 FAH 2184 HP:0001994 Renal Fanconi syndrome OMIM:276700 FAH 2184 HP:0003355 Aminoaciduria OMIM:276700 FAH 2184 HP:0003235 Hypermethioninemia OMIM:276700 FAH 2184 HP:0006949 Episodic peripheral neuropathy OMIM:276700 FAH 2184 HP:0001892 Abnormal bleeding OMIM:276700 FAH 2184 HP:0002590 Paralytic ileus OMIM:276700 FAH 2184 HP:0001402 Hepatocellular carcinoma OMIM:276700 FAH 2184 HP:0003163 Elevated urinary delta-aminolevulinic acid OMIM:276700 FAH 2184 HP:0000007 Autosomal recessive inheritance OMIM:276700 FAH 2184 HP:0002910 Elevated hepatic transaminases OMIM:276700 FAH 2184 HP:0000096 Glomerulosclerosis OMIM:276700 FAH 2184 HP:0000083 Renal insufficiency OMIM:276700 FAH 2184 HP:0001943 Hypoglycemia OMIM:276700 FAH 2184 HP:0001541 Ascites OMIM:276700 FAH 2184 HP:0004348 Abnormality of bone mineral density OMIM:276700 FAH 2184 HP:0000121 Nephrocalcinosis OMIM:276700 FAH 2184 HP:0002240 Hepatomegaly OMIM:276700 FAH 2184 HP:0003231 Hypertyrosinemia OMIM:276700 FAH 2184 HP:0004510 Pancreatic islet-cell hyperplasia OMIM:276700 FAH 2184 HP:0001508 Failure to thrive OMIM:276700 FAH 2184 HP:0001639 Hypertrophic cardiomyopathy OMIM:276700 FAH 2184 HP:0001394 Cirrhosis OMIM:610913 SFTPC 6440 HP:0000961 Cyanosis OMIM:610913 SFTPC 6440 HP:0002205 Recurrent respiratory infections OMIM:610913 SFTPC 6440 HP:0003829 Incomplete penetrance OMIM:610913 SFTPC 6440 HP:0006517 Alveolar proteinosis OMIM:610913 SFTPC 6440 HP:0006515 Interstitial pneumonitis OMIM:610913 SFTPC 6440 HP:0002098 Respiratory distress OMIM:610913 SFTPC 6440 HP:0001425 Heterogeneous OMIM:610913 SFTPC 6440 HP:0005576 Tubulointerstitial fibrosis OMIM:610913 SFTPC 6440 HP:0002789 Tachypnea OMIM:610913 SFTPC 6440 HP:0001508 Failure to thrive OMIM:610913 SFTPC 6440 HP:0001217 Clubbing OMIM:610913 SFTPC 6440 HP:0000006 Autosomal dominant inheritance OMIM:614306 SCN8A 6334 HP:0100543 Cognitive impairment OMIM:614306 SCN8A 6334 HP:0001249 Intellectual disability OMIM:614306 SCN8A 6334 HP:0001260 Dysarthria OMIM:614306 SCN8A 6334 HP:0000640 Gaze-evoked nystagmus OMIM:614306 SCN8A 6334 HP:0000646 Amblyopia OMIM:614306 SCN8A 6334 HP:0000712 Emotional lability OMIM:614306 SCN8A 6334 HP:0000006 Autosomal dominant inheritance OMIM:614306 SCN8A 6334 HP:0001310 Dysmetria OMIM:614306 SCN8A 6334 HP:0000609 Optic nerve hypoplasia OMIM:613313 HAMP 57817 HP:0011031 Abnormality of iron homeostasis OMIM:114890 CEACAM5 1048 HP:0002664 Neoplasm OMIM:114890 CEACAM5 1048 HP:0000006 Autosomal dominant inheritance OMIM:114890 CEACAM5 1048 HP:0001939 Abnormality of metabolism/homeostasis OMIM:266500 PHYH 5264 HP:0001251 Ataxia OMIM:266500 PHYH 5264 HP:0003474 Sensory impairment OMIM:266500 PHYH 5264 HP:0000639 Nystagmus OMIM:266500 PHYH 5264 HP:0008064 Ichthyosis OMIM:266500 PHYH 5264 HP:0000458 Anosmia OMIM:266500 PHYH 5264 HP:0010571 Elevated levels of phytanic acid OMIM:266500 PHYH 5264 HP:0001638 Cardiomyopathy OMIM:266500 PHYH 5264 HP:0002654 Multiple epiphyseal dysplasia OMIM:266500 PHYH 5264 HP:0002922 Increased CSF protein OMIM:266500 PHYH 5264 HP:0003690 Limb muscle weakness OMIM:266500 PHYH 5264 HP:0000662 Night blindness OMIM:266500 PHYH 5264 HP:0000508 Ptosis OMIM:266500 PHYH 5264 HP:0001640 Cardiomegaly OMIM:266500 PHYH 5264 HP:0000518 Cataract OMIM:266500 PHYH 5264 HP:0000546 Retinal degeneration OMIM:266500 PHYH 5264 HP:0001761 Pes cavus OMIM:266500 PHYH 5264 HP:0000007 Autosomal recessive inheritance OMIM:266500 PHYH 5264 HP:0004689 Short fourth metatarsal OMIM:266500 PHYH 5264 HP:0001265 Hyporeflexia OMIM:266500 PHYH 5264 HP:0000616 Miosis OMIM:266500 PHYH 5264 HP:0001635 Congestive heart failure OMIM:266500 PHYH 5264 HP:0011675 Arrhythmia OMIM:266500 PHYH 5264 HP:0000407 Sensorineural hearing impairment OMIM:266500 PHYH 5264 HP:0007141 Sensorimotor neuropathy OMIM:266500 PHYH 5264 HP:0012211 Abnormal renal physiology OMIM:266500 PHYH 5264 HP:0000510 Retinitis pigmentosa OMIM:103050 ADSL 158 HP:0003429 CNS hypomyelination OMIM:103050 ADSL 158 HP:0000463 Anteverted nares OMIM:103050 ADSL 158 HP:0001348 Brisk reflexes OMIM:103050 ADSL 158 HP:0000154 Wide mouth OMIM:103050 ADSL 158 HP:0003196 Short nose OMIM:103050 ADSL 158 HP:0000252 Microcephaly OMIM:103050 ADSL 158 HP:0001263 Global developmental delay OMIM:103050 ADSL 158 HP:0000369 Low-set ears OMIM:103050 ADSL 158 HP:0003202 Skeletal muscle atrophy OMIM:103050 ADSL 158 HP:0011344 Severe global developmental delay OMIM:103050 ADSL 158 HP:0001272 Cerebellar atrophy OMIM:103050 ADSL 158 HP:0000752 Hyperactivity OMIM:103050 ADSL 158 HP:0001336 Myoclonus OMIM:103050 ADSL 158 HP:0001510 Growth delay OMIM:103050 ADSL 158 HP:0000219 Thin upper lip vermilion OMIM:103050 ADSL 158 HP:0000248 Brachycephaly OMIM:103050 ADSL 158 HP:0000817 Poor eye contact OMIM:103050 ADSL 158 HP:0000748 Inappropriate laughter OMIM:103050 ADSL 158 HP:0001249 Intellectual disability OMIM:103050 ADSL 158 HP:0002066 Gait ataxia OMIM:103050 ADSL 158 HP:0000718 Aggressive behavior OMIM:103050 ADSL 158 HP:0002540 Inability to walk OMIM:103050 ADSL 158 HP:0001250 Seizures OMIM:103050 ADSL 158 HP:0000717 Autism OMIM:103050 ADSL 158 HP:0002059 Cerebral atrophy OMIM:103050 ADSL 158 HP:0000343 Long philtrum OMIM:103050 ADSL 158 HP:0000319 Smooth philtrum OMIM:103050 ADSL 158 HP:0003593 Infantile onset OMIM:103050 ADSL 158 HP:0000742 Self-mutilation OMIM:103050 ADSL 158 HP:0000750 Delayed speech and language development OMIM:103050 ADSL 158 HP:0002179 Opisthotonus OMIM:103050 ADSL 158 HP:0000007 Autosomal recessive inheritance OMIM:103050 ADSL 158 HP:0001252 Muscular hypotonia OMIM:103050 ADSL 158 HP:0005487 Prominent metopic ridge OMIM:103050 ADSL 158 HP:0040082 Happy demeanor OMIM:103050 ADSL 158 HP:0006808 Cerebral hypomyelination OMIM:103050 ADSL 158 HP:0000486 Strabismus OMIM:103050 ADSL 158 HP:0000639 Nystagmus OMIM:615774 ZP1 22917 HP:0000789 Infertility OMIM:615774 ZP1 22917 HP:0000007 Autosomal recessive inheritance OMIM:604273 ATPAF2 91647 HP:0002240 Hepatomegaly OMIM:604273 ATPAF2 91647 HP:0001508 Failure to thrive OMIM:604273 ATPAF2 91647 HP:0000007 Autosomal recessive inheritance OMIM:604273 ATPAF2 91647 HP:0003535 3-Methylglutaconic aciduria OMIM:604273 ATPAF2 91647 HP:0000047 Hypospadias OMIM:604273 ATPAF2 91647 HP:0001252 Muscular hypotonia OMIM:604273 ATPAF2 91647 HP:0004322 Short stature OMIM:604273 ATPAF2 91647 HP:0003593 Infantile onset OMIM:604273 ATPAF2 91647 HP:0002151 Increased serum lactate OMIM:604273 ATPAF2 91647 HP:0000252 Microcephaly OMIM:604273 ATPAF2 91647 HP:0000369 Low-set ears OMIM:604273 ATPAF2 91647 HP:0000028 Cryptorchidism OMIM:604273 ATPAF2 91647 HP:0001263 Global developmental delay OMIM:604273 ATPAF2 91647 HP:0000278 Retrognathia OMIM:604273 ATPAF2 91647 HP:0001639 Hypertrophic cardiomyopathy OMIM:604273 ATPAF2 91647 HP:0003128 Lactic acidosis OMIM:604273 ATPAF2 91647 HP:0001987 Hyperammonemia OMIM:604273 ATPAF2 91647 HP:0001251 Ataxia OMIM:604273 ATPAF2 91647 HP:0000426 Prominent nasal bridge OMIM:159555 KMT2A 4297 HP:0004808 Acute myeloid leukemia OMIM:159555 KMT2A 4297 HP:0004820 Acute myelomonocytic leukemia OMIM:159555 KMT2A 4297 HP:0006721 Acute lymphatic leukemia OMIM:159555 KMT2A 4297 HP:0000006 Autosomal dominant inheritance OMIM:159555 KMT2A 4297 HP:0004845 Acute monocytic leukemia OMIM:159555 KMT2A 4297 HP:0005531 Biphenotypic acute leukaemia OMIM:147750 SALL4 57167 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:147750 SALL4 57167 HP:0000365 Hearing impairment OMIM:147750 SALL4 57167 HP:0001199 Triphalangeal thumb OMIM:147750 SALL4 57167 HP:0001873 Thrombocytopenia OMIM:147750 SALL4 57167 HP:0002974 Radioulnar synostosis OMIM:147750 SALL4 57167 HP:0006064 Limited interphalangeal movement OMIM:147750 SALL4 57167 HP:0008953 Pectoralis major hypoplasia OMIM:147750 SALL4 57167 HP:0003812 Phenotypic variability OMIM:147750 SALL4 57167 HP:0009702 Carpal synostosis OMIM:147750 SALL4 57167 HP:0007477 Abnormal dermatoglyphics OMIM:147750 SALL4 57167 HP:0001177 Preaxial hand polydactyly OMIM:147750 SALL4 57167 HP:0002023 Anal atresia OMIM:147750 SALL4 57167 HP:0011675 Arrhythmia OMIM:147750 SALL4 57167 HP:0009777 Absent thumb OMIM:147750 SALL4 57167 HP:0000486 Strabismus OMIM:147750 SALL4 57167 HP:0001974 Leukocytosis OMIM:147750 SALL4 57167 HP:0000889 Abnormality of the clavicle OMIM:147750 SALL4 57167 HP:0000544 External ophthalmoplegia OMIM:147750 SALL4 57167 HP:0010034 Short 1st metacarpal OMIM:147750 SALL4 57167 HP:0005048 Synostosis of carpal bones OMIM:147750 SALL4 57167 HP:0000143 Rectovaginal fistula OMIM:147750 SALL4 57167 HP:0100589 Urogenital fistula OMIM:147750 SALL4 57167 HP:0001245 Small thenar eminence OMIM:147750 SALL4 57167 HP:0002984 Hypoplasia of the radius OMIM:147750 SALL4 57167 HP:0004322 Short stature OMIM:147750 SALL4 57167 HP:0030241 Hypoplasia of deltoid muscle OMIM:147750 SALL4 57167 HP:0006248 Limited wrist movement OMIM:147750 SALL4 57167 HP:0001376 Limitation of joint mobility OMIM:147750 SALL4 57167 HP:0002650 Scoliosis OMIM:147750 SALL4 57167 HP:0001498 Carpal bone hypoplasia OMIM:147750 SALL4 57167 HP:0002566 Intestinal malrotation OMIM:147750 SALL4 57167 HP:0002996 Limited elbow movement OMIM:147750 SALL4 57167 HP:0000006 Autosomal dominant inheritance OMIM:613502 BLNK 29760 HP:0000007 Autosomal recessive inheritance OMIM:613502 BLNK 29760 HP:0001875 Neutropenia OMIM:613502 BLNK 29760 HP:0003593 Infantile onset OMIM:613502 BLNK 29760 HP:0002014 Diarrhea OMIM:613502 BLNK 29760 HP:0000403 Recurrent otitis media OMIM:613502 BLNK 29760 HP:0006532 Recurrent pneumonia OMIM:613502 BLNK 29760 HP:0004432 Agammaglobulinemia OMIM:613502 BLNK 29760 HP:0002718 Recurrent bacterial infections OMIM:613502 BLNK 29760 HP:0011109 Chronic sinusitis OMIM:162200 NF1 4763 HP:0000822 Hypertension OMIM:162200 NF1 4763 HP:0000238 Hydrocephalus OMIM:162200 NF1 4763 HP:0000501 Glaucoma OMIM:162200 NF1 4763 HP:0030052 Inguinal freckling OMIM:162200 NF1 4763 HP:0009592 Astrocytoma OMIM:162200 NF1 4763 HP:0002858 Meningioma OMIM:162200 NF1 4763 HP:0100697 Neurofibrosarcoma OMIM:162200 NF1 4763 HP:0002521 Hypsarrhythmia OMIM:162200 NF1 4763 HP:0000006 Autosomal dominant inheritance OMIM:162200 NF1 4763 HP:0001548 Overgrowth OMIM:162200 NF1 4763 HP:0002897 Parathyroid adenoma OMIM:162200 NF1 4763 HP:0009734 Optic glioma OMIM:162200 NF1 4763 HP:0000316 Hypertelorism OMIM:162200 NF1 4763 HP:0009736 Tibial pseudoarthrosis OMIM:162200 NF1 4763 HP:0002410 Aqueductal stenosis OMIM:162200 NF1 4763 HP:0002650 Scoliosis OMIM:162200 NF1 4763 HP:0002857 Genu valgum OMIM:162200 NF1 4763 HP:0002859 Rhabdomyosarcoma OMIM:162200 NF1 4763 HP:0002666 Pheochromocytoma OMIM:162200 NF1 4763 HP:0000997 Axillary freckling OMIM:162200 NF1 4763 HP:0004322 Short stature OMIM:162200 NF1 4763 HP:0001250 Seizures OMIM:162200 NF1 4763 HP:0009732 Plexiform neurofibroma OMIM:162200 NF1 4763 HP:0009735 Spinal neurofibromas OMIM:162200 NF1 4763 HP:0000957 Cafe-au-lait spot OMIM:162200 NF1 4763 HP:0009737 Lisch nodules OMIM:162200 NF1 4763 HP:0001256 Intellectual disability, mild OMIM:162200 NF1 4763 HP:0001328 Specific learning disability OMIM:162200 NF1 4763 HP:0001920 Renal artery stenosis OMIM:162200 NF1 4763 HP:0002414 Spina bifida OMIM:612953 PLA2G6 8398 HP:0003236 Elevated serum creatine phosphokinase OMIM:612953 PLA2G6 8398 HP:0000718 Aggressive behavior OMIM:612953 PLA2G6 8398 HP:0001300 Parkinsonism OMIM:612953 PLA2G6 8398 HP:0003678 Rapidly progressive OMIM:612953 PLA2G6 8398 HP:0002283 Global brain atrophy OMIM:612953 PLA2G6 8398 HP:0001337 Tremor OMIM:612953 PLA2G6 8398 HP:0001260 Dysarthria OMIM:612953 PLA2G6 8398 HP:0006892 Frontotemporal cerebral atrophy OMIM:612953 PLA2G6 8398 HP:0002063 Rigidity OMIM:612953 PLA2G6 8398 HP:0000605 Supranuclear gaze palsy OMIM:612953 PLA2G6 8398 HP:0002172 Postural instability OMIM:612953 PLA2G6 8398 HP:0002067 Bradykinesia OMIM:612953 PLA2G6 8398 HP:0001332 Dystonia OMIM:612953 PLA2G6 8398 HP:0000751 Personality changes OMIM:612953 PLA2G6 8398 HP:0001257 Spasticity OMIM:612953 PLA2G6 8398 HP:0002312 Clumsiness OMIM:612953 PLA2G6 8398 HP:0000007 Autosomal recessive inheritance OMIM:612953 PLA2G6 8398 HP:0001268 Mental deterioration OMIM:612953 PLA2G6 8398 HP:0001347 Hyperreflexia OMIM:306000 PHKA2 5256 HP:0001419 X-linked recessive inheritance OMIM:306000 PHKA2 5256 HP:0001270 Motor delay OMIM:306000 PHKA2 5256 HP:0002910 Elevated hepatic transaminases OMIM:306000 PHKA2 5256 HP:0002240 Hepatomegaly OMIM:306000 PHKA2 5256 HP:0002155 Hypertriglyceridemia OMIM:306000 PHKA2 5256 HP:0001946 Ketosis OMIM:306000 PHKA2 5256 HP:0001510 Growth delay OMIM:306000 PHKA2 5256 HP:0003124 Hypercholesterolemia OMIM:306000 PHKA2 5256 HP:0001943 Hypoglycemia OMIM:103500 MITF 4286 HP:0000006 Autosomal dominant inheritance OMIM:103500 MITF 4286 HP:0008619 Bilateral sensorineural hearing impairment OMIM:103500 MITF 4286 HP:0000635 Blue irides OMIM:103500 MITF 4286 HP:0001487 Hypopigmented fundi OMIM:103500 MITF 4286 HP:0007513 Generalized hypopigmentation OMIM:103500 MITF 4286 HP:0002227 White eyelashes OMIM:103500 MITF 4286 HP:0000365 Hearing impairment OMIM:103500 MITF 4286 HP:0002226 White eyebrow OMIM:103500 MITF 4286 HP:0008527 Congenital sensorineural hearing impairment OMIM:103500 MITF 4286 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:103500 MITF 4286 HP:0000593 Abnormality of the anterior chamber OMIM:103500 MITF 4286 HP:0005599 Hypopigmentation of hair OMIM:607624 RAB27A 5873 HP:0002017 Nausea and vomiting OMIM:607624 RAB27A 5873 HP:0002113 Pulmonary infiltrates OMIM:607624 RAB27A 5873 HP:0001874 Abnormality of neutrophils OMIM:607624 RAB27A 5873 HP:0001276 Hypertonia OMIM:607624 RAB27A 5873 HP:0003119 Abnormality of lipid metabolism OMIM:607624 RAB27A 5873 HP:0002344 Progressive neurologic deterioration OMIM:607624 RAB27A 5873 HP:0001008 Accumulation of melanosomes in melanocytes OMIM:607624 RAB27A 5873 HP:0001107 Ocular albinism OMIM:607624 RAB27A 5873 HP:0001053 Hypopigmented skin patches OMIM:607624 RAB27A 5873 HP:0003819 Death in childhood OMIM:607624 RAB27A 5873 HP:0002240 Hepatomegaly OMIM:607624 RAB27A 5873 HP:0002716 Lymphadenopathy OMIM:607624 RAB27A 5873 HP:0001257 Spasticity OMIM:607624 RAB27A 5873 HP:0002216 Premature graying of hair OMIM:607624 RAB27A 5873 HP:0001317 Abnormality of the cerebellum OMIM:607624 RAB27A 5873 HP:0002718 Recurrent bacterial infections OMIM:607624 RAB27A 5873 HP:0001010 Hypopigmentation of the skin OMIM:607624 RAB27A 5873 HP:0001744 Splenomegaly OMIM:607624 RAB27A 5873 HP:0001250 Seizures OMIM:607624 RAB27A 5873 HP:0005528 Bone marrow hypocellularity OMIM:607624 RAB27A 5873 HP:0001933 Subcutaneous hemorrhage OMIM:607624 RAB27A 5873 HP:0003593 Infantile onset OMIM:607624 RAB27A 5873 HP:0002220 Melanin pigment aggregation in hair shafts OMIM:607624 RAB27A 5873 HP:0010978 Abnormality of immune system physiology OMIM:607624 RAB27A 5873 HP:0005599 Hypopigmentation of hair OMIM:607624 RAB27A 5873 HP:0002972 Reduced delayed hypersensitivity OMIM:607624 RAB27A 5873 HP:0001287 Meningitis OMIM:607624 RAB27A 5873 HP:0004370 Abnormality of temperature regulation OMIM:607624 RAB27A 5873 HP:0000007 Autosomal recessive inheritance OMIM:607624 RAB27A 5873 HP:0002218 Silver-gray hair OMIM:614809 CFHR5 81494 HP:0003676 Progressive disorder OMIM:614809 CFHR5 81494 HP:0000790 Hematuria OMIM:614809 CFHR5 81494 HP:0003774 Stage 5 chronic kidney disease OMIM:614809 CFHR5 81494 HP:0000099 Glomerulonephritis OMIM:614809 CFHR5 81494 HP:0000006 Autosomal dominant inheritance OMIM:604278 SLC4A4 8671 HP:0004910 Bicarbonate-wasting renal tubular acidosis OMIM:604278 SLC4A4 8671 HP:0002049 Proximal renal tubular acidosis OMIM:604278 SLC4A4 8671 HP:0000585 Band keratopathy OMIM:604278 SLC4A4 8671 HP:0001995 Hyperchloremic acidosis OMIM:604278 SLC4A4 8671 HP:0000518 Cataract OMIM:604278 SLC4A4 8671 HP:0000007 Autosomal recessive inheritance OMIM:604278 SLC4A4 8671 HP:0001510 Growth delay OMIM:604278 SLC4A4 8671 HP:0000501 Glaucoma OMIM:604278 SLC4A4 8671 HP:0001249 Intellectual disability OMIM:604278 SLC4A4 8671 HP:0005546 Increased red cell osmotic resistance OMIM:615419 NALCN 259232 HP:0008936 Muscular hypotonia of the trunk OMIM:615419 NALCN 259232 HP:0007256 Abnormal pyramidal signs OMIM:615419 NALCN 259232 HP:0008897 Postnatal growth retardation OMIM:615419 NALCN 259232 HP:0001250 Seizures OMIM:615419 NALCN 259232 HP:0000417 Slender nose OMIM:615419 NALCN 259232 HP:0000325 Triangular face OMIM:615419 NALCN 259232 HP:0000347 Micrognathia OMIM:615419 NALCN 259232 HP:0000319 Smooth philtrum OMIM:615419 NALCN 259232 HP:0003431 Decreased motor nerve conduction velocity OMIM:615419 NALCN 259232 HP:0000007 Autosomal recessive inheritance OMIM:615419 NALCN 259232 HP:0000486 Strabismus OMIM:615419 NALCN 259232 HP:0002650 Scoliosis OMIM:615419 NALCN 259232 HP:0000248 Brachycephaly OMIM:615419 NALCN 259232 HP:0011220 Prominent forehead OMIM:615419 NALCN 259232 HP:0002510 Spastic tetraplegia OMIM:615419 NALCN 259232 HP:0003196 Short nose OMIM:615419 NALCN 259232 HP:0001263 Global developmental delay OMIM:615419 NALCN 259232 HP:0000369 Low-set ears OMIM:615419 NALCN 259232 HP:0000252 Microcephaly OMIM:615419 NALCN 259232 HP:0000639 Nystagmus OMIM:615419 NALCN 259232 HP:0000219 Thin upper lip vermilion OMIM:615419 NALCN 259232 HP:0002019 Constipation OMIM:615419 NALCN 259232 HP:0002020 Gastroesophageal reflux OMIM:615419 NALCN 259232 HP:0001347 Hyperreflexia OMIM:615419 NALCN 259232 HP:0003202 Skeletal muscle atrophy OMIM:615419 NALCN 259232 HP:0000817 Poor eye contact OMIM:615419 NALCN 259232 HP:0011968 Feeding difficulties OMIM:615419 NALCN 259232 HP:0000400 Macrotia OMIM:615419 NALCN 259232 HP:0003676 Progressive disorder OMIM:615419 NALCN 259232 HP:0000648 Optic atrophy OMIM:615419 NALCN 259232 HP:0000154 Wide mouth OMIM:615419 NALCN 259232 HP:0000028 Cryptorchidism OMIM:615419 NALCN 259232 HP:0000768 Pectus carinatum OMIM:610725 PLCE1 51196 HP:0001967 Diffuse mesangial sclerosis OMIM:610725 PLCE1 51196 HP:0000097 Focal segmental glomerulosclerosis OMIM:610725 PLCE1 51196 HP:0003676 Progressive disorder OMIM:610725 PLCE1 51196 HP:0000007 Autosomal recessive inheritance OMIM:610725 PLCE1 51196 HP:0000093 Proteinuria OMIM:610725 PLCE1 51196 HP:0011463 Childhood onset OMIM:610725 PLCE1 51196 HP:0000969 Edema OMIM:610725 PLCE1 51196 HP:0003774 Stage 5 chronic kidney disease OMIM:610725 PLCE1 51196 HP:0000100 Nephrotic syndrome OMIM:610725 PLCE1 51196 HP:0003073 Hypoalbuminemia OMIM:613926 HEPACAM 220296 HP:0000256 Macrocephaly OMIM:613926 HEPACAM 220296 HP:0002312 Clumsiness OMIM:613926 HEPACAM 220296 HP:0001355 Megalencephaly OMIM:613926 HEPACAM 220296 HP:0000006 Autosomal dominant inheritance OMIM:613926 HEPACAM 220296 HP:0001270 Motor delay OMIM:613926 HEPACAM 220296 HP:0001249 Intellectual disability OMIM:613926 HEPACAM 220296 HP:0007341 Diffuse swelling of cerebral white matter OMIM:613926 HEPACAM 220296 HP:0001252 Muscular hypotonia OMIM:609033 FLVCR1 28982 HP:0012385 Camptodactyly OMIM:609033 FLVCR1 28982 HP:0002571 Achalasia OMIM:609033 FLVCR1 28982 HP:0000020 Urinary incontinence OMIM:609033 FLVCR1 28982 HP:0000575 Scotoma OMIM:609033 FLVCR1 28982 HP:0002166 Impaired vibration sensation in the lower limbs OMIM:609033 FLVCR1 28982 HP:0007737 Bony spicule pigmentary retinopathy OMIM:609033 FLVCR1 28982 HP:0000007 Autosomal recessive inheritance OMIM:609033 FLVCR1 28982 HP:0001249 Intellectual disability OMIM:609033 FLVCR1 28982 HP:0003448 Decreased sensory nerve conduction velocity OMIM:609033 FLVCR1 28982 HP:0002650 Scoliosis OMIM:609033 FLVCR1 28982 HP:0009473 Joint contracture of the hand OMIM:609033 FLVCR1 28982 HP:0000648 Optic atrophy OMIM:609033 FLVCR1 28982 HP:0010871 Sensory ataxia OMIM:609033 FLVCR1 28982 HP:0003677 Slow progression OMIM:609033 FLVCR1 28982 HP:0002403 Positive Romberg sign OMIM:609033 FLVCR1 28982 HP:0011463 Childhood onset OMIM:609033 FLVCR1 28982 HP:0001284 Areflexia OMIM:609033 FLVCR1 28982 HP:0002460 Distal muscle weakness OMIM:609033 FLVCR1 28982 HP:0000618 Blindness OMIM:609033 FLVCR1 28982 HP:0003202 Skeletal muscle atrophy OMIM:609033 FLVCR1 28982 HP:0000010 Recurrent urinary tract infections OMIM:609033 FLVCR1 28982 HP:0000550 Abolished electroretinogram (ERG) OMIM:609033 FLVCR1 28982 HP:0002136 Broad-based gait OMIM:609033 FLVCR1 28982 HP:0000510 Retinitis pigmentosa OMIM:616263 PTRH2 51651 HP:0000248 Brachycephaly OMIM:616263 PTRH2 51651 HP:0002460 Distal muscle weakness OMIM:616263 PTRH2 51651 HP:0001252 Muscular hypotonia OMIM:616263 PTRH2 51651 HP:0000252 Microcephaly OMIM:616263 PTRH2 51651 HP:0001395 Hepatic fibrosis OMIM:616263 PTRH2 51651 HP:0000407 Sensorineural hearing impairment OMIM:616263 PTRH2 51651 HP:0001263 Global developmental delay OMIM:616263 PTRH2 51651 HP:0001272 Cerebellar atrophy OMIM:616263 PTRH2 51651 HP:0009623 Proximal placement of thumb OMIM:616263 PTRH2 51651 HP:0001508 Failure to thrive OMIM:616263 PTRH2 51651 HP:0002570 Steatorrhea OMIM:616263 PTRH2 51651 HP:0004322 Short stature OMIM:616263 PTRH2 51651 HP:0001251 Ataxia OMIM:616263 PTRH2 51651 HP:0002240 Hepatomegaly OMIM:616263 PTRH2 51651 HP:0000049 Shawl scrotum OMIM:616263 PTRH2 51651 HP:0000219 Thin upper lip vermilion OMIM:616263 PTRH2 51651 HP:0100732 Pancreatic fibrosis OMIM:616263 PTRH2 51651 HP:0001762 Talipes equinovarus OMIM:616263 PTRH2 51651 HP:0002827 Hip dislocation OMIM:616263 PTRH2 51651 HP:0000316 Hypertelorism OMIM:616263 PTRH2 51651 HP:0000577 Exotropia OMIM:616263 PTRH2 51651 HP:0001249 Intellectual disability OMIM:616263 PTRH2 51651 HP:0000821 Hypothyroidism OMIM:616263 PTRH2 51651 HP:0011800 Midface retrusion OMIM:129600 FBN1 2200 HP:0000006 Autosomal dominant inheritance OMIM:129600 FBN1 2200 HP:0001083 Ectopia lentis OMIM:615513 PIK3CD 5293 HP:0001744 Splenomegaly OMIM:615513 PIK3CD 5293 HP:0002716 Lymphadenopathy OMIM:615513 PIK3CD 5293 HP:0002721 Immunodeficiency OMIM:615513 PIK3CD 5293 HP:0004313 Hypogammaglobulinemia OMIM:615513 PIK3CD 5293 HP:0002110 Bronchiectasis OMIM:615513 PIK3CD 5293 HP:0005425 Recurrent sinopulmonary infections OMIM:615513 PIK3CD 5293 HP:0100658 Cellulitis OMIM:613829 CRX 1406 HP:0000518 Cataract OMIM:613829 CRX 1406 HP:0000505 Visual impairment OMIM:613829 CRX 1406 HP:0000007 Autosomal recessive inheritance OMIM:613829 CRX 1406 HP:0012043 Pendular nystagmus OMIM:613829 CRX 1406 HP:0000563 Keratoconus OMIM:613829 CRX 1406 HP:0000613 Photophobia OMIM:613829 CRX 1406 HP:0000550 Abolished electroretinogram (ERG) OMIM:613456 ALX1 8092 HP:0002057 Prominent glabella OMIM:613456 ALX1 8092 HP:0000007 Autosomal recessive inheritance OMIM:613456 ALX1 8092 HP:0000316 Hypertelorism OMIM:613456 ALX1 8092 HP:0000568 Microphthalmos OMIM:613456 ALX1 8092 HP:0000431 Wide nasal bridge OMIM:613456 ALX1 8092 HP:0000636 Upper eyelid coloboma OMIM:613456 ALX1 8092 HP:0000368 Low-set, posteriorly rotated ears OMIM:613456 ALX1 8092 HP:0000175 Cleft palate OMIM:613456 ALX1 8092 HP:0002223 Absent eyebrow OMIM:613456 ALX1 8092 HP:0001249 Intellectual disability OMIM:613456 ALX1 8092 HP:0000248 Brachycephaly OMIM:613456 ALX1 8092 HP:0002006 Facial cleft OMIM:613456 ALX1 8092 HP:0000430 Underdeveloped nasal alae OMIM:613456 ALX1 8092 HP:0000653 Sparse eyelashes OMIM:613327 PTRF 284119 HP:0005110 Atrial fibrillation OMIM:613327 PTRF 284119 HP:0001657 Prolonged QT interval OMIM:613327 PTRF 284119 HP:0002021 Pyloric stenosis OMIM:613327 PTRF 284119 HP:0003306 Spinal rigidity OMIM:613327 PTRF 284119 HP:0000956 Acanthosis nigricans OMIM:613327 PTRF 284119 HP:0002019 Constipation OMIM:613327 PTRF 284119 HP:0001662 Bradycardia OMIM:613327 PTRF 284119 HP:0002595 Ileus OMIM:613327 PTRF 284119 HP:0003712 Skeletal muscle hypertrophy OMIM:613327 PTRF 284119 HP:0002719 Recurrent infections OMIM:613327 PTRF 284119 HP:0003326 Myalgia OMIM:613327 PTRF 284119 HP:0000007 Autosomal recessive inheritance OMIM:613327 PTRF 284119 HP:0003546 Exercise intolerance OMIM:613327 PTRF 284119 HP:0003236 Elevated serum creatine phosphokinase OMIM:613327 PTRF 284119 HP:0002910 Elevated hepatic transaminases OMIM:613327 PTRF 284119 HP:0001371 Flexion contracture OMIM:613327 PTRF 284119 HP:0003307 Hyperlordosis OMIM:613327 PTRF 284119 HP:0003719 Muscle mounding OMIM:613327 PTRF 284119 HP:0001544 Prominent umbilicus OMIM:613327 PTRF 284119 HP:0001508 Failure to thrive OMIM:613327 PTRF 284119 HP:0001744 Splenomegaly OMIM:613327 PTRF 284119 HP:0002240 Hepatomegaly OMIM:613327 PTRF 284119 HP:0011968 Feeding difficulties OMIM:613327 PTRF 284119 HP:0000938 Osteopenia OMIM:613327 PTRF 284119 HP:0002720 IgA deficiency OMIM:613327 PTRF 284119 HP:0000855 Insulin resistance OMIM:613327 PTRF 284119 HP:0003593 Infantile onset OMIM:613327 PTRF 284119 HP:0003552 Muscle stiffness OMIM:613327 PTRF 284119 HP:0001007 Hirsutism OMIM:613327 PTRF 284119 HP:0009125 Lipodystrophy OMIM:613327 PTRF 284119 HP:0001397 Hepatic steatosis OMIM:613327 PTRF 284119 HP:0002015 Dysphagia OMIM:613327 PTRF 284119 HP:0002155 Hypertriglyceridemia OMIM:613327 PTRF 284119 HP:0003701 Proximal muscle weakness OMIM:613327 PTRF 284119 HP:0000939 Osteoporosis OMIM:613327 PTRF 284119 HP:0002650 Scoliosis OMIM:613327 PTRF 284119 HP:0003324 Generalized muscle weakness OMIM:613327 PTRF 284119 HP:0003560 Muscular dystrophy OMIM:613327 PTRF 284119 HP:0000842 Hyperinsulinemia OMIM:248510 MANBA 4126 HP:0001249 Intellectual disability OMIM:248510 MANBA 4126 HP:0002167 Neurological speech impairment OMIM:248510 MANBA 4126 HP:0001999 Abnormal facial shape OMIM:248510 MANBA 4126 HP:0000752 Hyperactivity OMIM:248510 MANBA 4126 HP:0001939 Abnormality of metabolism/homeostasis OMIM:248510 MANBA 4126 HP:0100543 Cognitive impairment OMIM:248510 MANBA 4126 HP:0000365 Hearing impairment OMIM:248510 MANBA 4126 HP:0000718 Aggressive behavior OMIM:248510 MANBA 4126 HP:0001014 Angiokeratoma OMIM:248510 MANBA 4126 HP:0001250 Seizures OMIM:248510 MANBA 4126 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature OMIM:248510 MANBA 4126 HP:0000007 Autosomal recessive inheritance OMIM:248510 MANBA 4126 HP:0012066 Increased urinary disaccharide excretion OMIM:248510 MANBA 4126 HP:0000503 Tortuosity of conjunctival vessels OMIM:248510 MANBA 4126 HP:0007108 Demyelinating peripheral neuropathy OMIM:248510 MANBA 4126 HP:0001252 Muscular hypotonia OMIM:248510 MANBA 4126 HP:0002205 Recurrent respiratory infections OMIM:615506 GDF2 2658 HP:0001409 Portal hypertension OMIM:615506 GDF2 2658 HP:0001009 Telangiectasia OMIM:615506 GDF2 2658 HP:0002910 Elevated hepatic transaminases OMIM:615506 GDF2 2658 HP:0004406 Spontaneous, recurrent epistaxis OMIM:615506 GDF2 2658 HP:0000006 Autosomal dominant inheritance OMIM:233300 FSHR 2492 HP:0000939 Osteoporosis OMIM:233300 FSHR 2492 HP:0000133 Gonadal dysgenesis OMIM:233300 FSHR 2492 HP:0000007 Autosomal recessive inheritance OMIM:233300 FSHR 2492 HP:0000786 Primary amenorrhea OMIM:233300 FSHR 2492 HP:0000837 Increased circulating gonadotropin level OMIM:609340 DDHD1 80821 HP:0003677 Slow progression OMIM:609340 DDHD1 80821 HP:0003487 Babinski sign OMIM:609340 DDHD1 80821 HP:0002650 Scoliosis OMIM:609340 DDHD1 80821 HP:0002061 Lower limb spasticity OMIM:609340 DDHD1 80821 HP:0000007 Autosomal recessive inheritance OMIM:609340 DDHD1 80821 HP:0003477 Peripheral axonal neuropathy OMIM:609340 DDHD1 80821 HP:0003621 Juvenile onset OMIM:609340 DDHD1 80821 HP:0002936 Distal sensory impairment OMIM:609340 DDHD1 80821 HP:0001347 Hyperreflexia OMIM:609340 DDHD1 80821 HP:0001258 Spastic paraplegia OMIM:609340 DDHD1 80821 HP:0002355 Difficulty walking OMIM:609340 DDHD1 80821 HP:0001761 Pes cavus OMIM:609340 DDHD1 80821 HP:0007340 Lower limb muscle weakness OMIM:605013 NDE1 54820 HP:0000340 Sloping forehead OMIM:605013 NDE1 54820 HP:0010864 Intellectual disability, severe OMIM:605013 NDE1 54820 HP:0001357 Plagiocephaly OMIM:605013 NDE1 54820 HP:0100543 Cognitive impairment OMIM:605013 NDE1 54820 HP:0001274 Agenesis of corpus callosum OMIM:605013 NDE1 54820 HP:0002365 Hypoplasia of the brainstem OMIM:605013 NDE1 54820 HP:0002828 Multiple joint contractures OMIM:605013 NDE1 54820 HP:0001263 Global developmental delay OMIM:605013 NDE1 54820 HP:0002119 Ventriculomegaly OMIM:605013 NDE1 54820 HP:0001762 Talipes equinovarus OMIM:605013 NDE1 54820 HP:0002305 Athetosis OMIM:605013 NDE1 54820 HP:0000269 Prominent occiput OMIM:605013 NDE1 54820 HP:0000007 Autosomal recessive inheritance OMIM:605013 NDE1 54820 HP:0000252 Microcephaly OMIM:605013 NDE1 54820 HP:0000400 Macrotia OMIM:605013 NDE1 54820 HP:0000742 Self-mutilation OMIM:605013 NDE1 54820 HP:0006887 Intellectual disability, progressive OMIM:605013 NDE1 54820 HP:0001302 Pachygyria OMIM:605013 NDE1 54820 HP:0001347 Hyperreflexia OMIM:605013 NDE1 54820 HP:0003202 Skeletal muscle atrophy OMIM:605013 NDE1 54820 HP:0002510 Spastic tetraplegia OMIM:605013 NDE1 54820 HP:0000520 Proptosis OMIM:605013 NDE1 54820 HP:0010515 Aplasia/Hypoplasia of the thymus OMIM:605013 NDE1 54820 HP:0004322 Short stature OMIM:605013 NDE1 54820 HP:0001276 Hypertonia OMIM:605013 NDE1 54820 HP:0002324 Hydranencephaly OMIM:605013 NDE1 54820 HP:0001321 Cerebellar hypoplasia OMIM:605013 NDE1 54820 HP:0000834 Abnormality of the adrenal glands OMIM:605013 NDE1 54820 HP:0002120 Cerebral cortical atrophy OMIM:605013 NDE1 54820 HP:0002123 Generalized myoclonic seizures OMIM:605013 NDE1 54820 HP:0000426 Prominent nasal bridge OMIM:615425 DST 667 HP:0001075 Atrophic scars OMIM:615425 DST 667 HP:0008404 Nail dystrophy OMIM:615425 DST 667 HP:0000007 Autosomal recessive inheritance OMIM:602579 MPI 4351 HP:0002612 Congenital hepatic fibrosis OMIM:602579 MPI 4351 HP:0001976 Reduced antithrombin III activity OMIM:602579 MPI 4351 HP:0001004 Lymphedema OMIM:602579 MPI 4351 HP:0001394 Cirrhosis OMIM:602579 MPI 4351 HP:0002240 Hepatomegaly OMIM:602579 MPI 4351 HP:0001399 Hepatic failure OMIM:602579 MPI 4351 HP:0001395 Hepatic fibrosis OMIM:602579 MPI 4351 HP:0003642 Type I transferrin isoform profile OMIM:602579 MPI 4351 HP:0002014 Diarrhea OMIM:602579 MPI 4351 HP:0001929 Reduced factor XI activity OMIM:602579 MPI 4351 HP:0001252 Muscular hypotonia OMIM:602579 MPI 4351 HP:0002024 Malabsorption OMIM:602579 MPI 4351 HP:0002013 Vomiting OMIM:602579 MPI 4351 HP:0011473 Villous atrophy OMIM:602579 MPI 4351 HP:0001977 Abnormal thrombosis OMIM:602579 MPI 4351 HP:0000825 Hyperinsulinemic hypoglycemia OMIM:602579 MPI 4351 HP:0001892 Abnormal bleeding OMIM:602579 MPI 4351 HP:0000007 Autosomal recessive inheritance OMIM:602579 MPI 4351 HP:0001508 Failure to thrive OMIM:602579 MPI 4351 HP:0003073 Hypoalbuminemia OMIM:602579 MPI 4351 HP:0001943 Hypoglycemia OMIM:602579 MPI 4351 HP:0002243 Protein-losing enteropathy OMIM:612932 ENO3 2027 HP:0003236 Elevated serum creatine phosphokinase OMIM:612932 ENO3 2027 HP:0003581 Adult onset OMIM:612932 ENO3 2027 HP:0003546 Exercise intolerance OMIM:612932 ENO3 2027 HP:0009051 Increased muscle glycogen content OMIM:612932 ENO3 2027 HP:0003326 Myalgia OMIM:612932 ENO3 2027 HP:0000007 Autosomal recessive inheritance OMIM:615156 DNA2 1763 HP:0001533 Slender build OMIM:615156 DNA2 1763 HP:0000590 Progressive external ophthalmoplegia OMIM:615156 DNA2 1763 HP:0003325 Limb-girdle muscle weakness OMIM:615156 DNA2 1763 HP:0003391 Gowers sign OMIM:615156 DNA2 1763 HP:0001288 Gait disturbance OMIM:615156 DNA2 1763 HP:0003700 Generalized amyotrophy OMIM:615156 DNA2 1763 HP:0000006 Autosomal dominant inheritance OMIM:615156 DNA2 1763 HP:0002875 Exertional dyspnea OMIM:615156 DNA2 1763 HP:0003677 Slow progression OMIM:615156 DNA2 1763 HP:0010628 Facial palsy OMIM:615156 DNA2 1763 HP:0000508 Ptosis OMIM:615156 DNA2 1763 HP:0003236 Elevated serum creatine phosphokinase OMIM:615156 DNA2 1763 HP:0003326 Myalgia OMIM:615156 DNA2 1763 HP:0003394 Muscle cramps OMIM:615156 DNA2 1763 HP:0003546 Exercise intolerance OMIM:615156 DNA2 1763 HP:0002870 Obstructive sleep apnea OMIM:613107 GFI1 2672 HP:0000006 Autosomal dominant inheritance OMIM:613107 GFI1 2672 HP:0005549 Congenital neutropenia OMIM:613107 GFI1 2672 HP:0012311 Monocytosis OMIM:613107 GFI1 2672 HP:0010976 B lymphocytopenia OMIM:276710 HPD 3242 HP:0001392 Abnormality of the liver OMIM:276710 HPD 3242 HP:0001250 Seizures OMIM:276710 HPD 3242 HP:0003607 4-Hydroxyphenylacetic aciduria OMIM:276710 HPD 3242 HP:0003231 Hypertyrosinemia OMIM:276710 HPD 3242 HP:0001256 Intellectual disability, mild OMIM:276710 HPD 3242 HP:0000007 Autosomal recessive inheritance OMIM:276710 HPD 3242 HP:0003161 4-Hydroxyphenylpyruvic aciduria OMIM:614900 RPL26 6154 HP:0000413 Atresia of the external auditory canal OMIM:614900 RPL26 6154 HP:0000104 Renal agenesis OMIM:614900 RPL26 6154 HP:0000492 Abnormality of the eyelid OMIM:614900 RPL26 6154 HP:0000175 Cleft palate OMIM:614900 RPL26 6154 HP:0001903 Anemia OMIM:614900 RPL26 6154 HP:0003022 Hypoplasia of the ulna OMIM:614900 RPL26 6154 HP:0001647 Bicuspid aortic valve OMIM:614900 RPL26 6154 HP:0009777 Absent thumb OMIM:614900 RPL26 6154 HP:0006368 Forearm reduction defects OMIM:614900 RPL26 6154 HP:0000402 Stenosis of the external auditory canal OMIM:614900 RPL26 6154 HP:0002984 Hypoplasia of the radius OMIM:237300 CPS1 1373 HP:0002093 Respiratory insufficiency OMIM:237300 CPS1 1373 HP:0001950 Respiratory alkalosis OMIM:237300 CPS1 1373 HP:0001250 Seizures OMIM:237300 CPS1 1373 HP:0001263 Global developmental delay OMIM:237300 CPS1 1373 HP:0003355 Aminoaciduria OMIM:237300 CPS1 1373 HP:0001249 Intellectual disability OMIM:237300 CPS1 1373 HP:0001252 Muscular hypotonia OMIM:237300 CPS1 1373 HP:0001987 Hyperammonemia OMIM:237300 CPS1 1373 HP:0001951 Episodic ammonia intoxication OMIM:237300 CPS1 1373 HP:0001254 Lethargy OMIM:237300 CPS1 1373 HP:0000737 Irritability OMIM:237300 CPS1 1373 HP:0001508 Failure to thrive OMIM:237300 CPS1 1373 HP:0002181 Cerebral edema OMIM:237300 CPS1 1373 HP:0002038 Protein avoidance OMIM:237300 CPS1 1373 HP:0002013 Vomiting OMIM:237300 CPS1 1373 HP:0001297 Stroke OMIM:237300 CPS1 1373 HP:0000007 Autosomal recessive inheritance OMIM:237300 CPS1 1373 HP:0001259 Coma OMIM:237300 CPS1 1373 HP:0003572 Low plasma citrulline OMIM:237300 CPS1 1373 HP:0001251 Ataxia OMIM:237300 CPS1 1373 HP:0005961 Hypoargininemia OMIM:214110 PEX5 5830 HP:0003455 Elevated long chain fatty acids OMIM:214110 PEX5 5830 HP:0001762 Talipes equinovarus OMIM:214110 PEX5 5830 HP:0100540 Palpebral edema OMIM:214110 PEX5 5830 HP:0000057 Clitoromegaly OMIM:214110 PEX5 5830 HP:0000952 Jaundice OMIM:214110 PEX5 5830 HP:0011039 Abnormality of the helix OMIM:214110 PEX5 5830 HP:0002104 Apnea OMIM:214110 PEX5 5830 HP:0000582 Upslanted palpebral fissure OMIM:214110 PEX5 5830 HP:0007759 Opacification of the corneal stroma OMIM:214110 PEX5 5830 HP:0000239 Large fontanelles OMIM:214110 PEX5 5830 HP:0000954 Single transverse palmar crease OMIM:214110 PEX5 5830 HP:0009473 Joint contracture of the hand OMIM:214110 PEX5 5830 HP:0001401 Intrahepatic biliary dysgenesis OMIM:214110 PEX5 5830 HP:0001840 Metatarsus adductus OMIM:214110 PEX5 5830 HP:0012103 Abnormality of the mitochondrion OMIM:214110 PEX5 5830 HP:0002240 Hepatomegaly OMIM:214110 PEX5 5830 HP:0012385 Camptodactyly OMIM:214110 PEX5 5830 HP:0001252 Muscular hypotonia OMIM:214110 PEX5 5830 HP:0000113 Polycystic kidney dysplasia OMIM:214110 PEX5 5830 HP:0002764 Stippled chondral calcification OMIM:214110 PEX5 5830 HP:0001284 Areflexia OMIM:214110 PEX5 5830 HP:0003819 Death in childhood OMIM:214110 PEX5 5830 HP:0000348 High forehead OMIM:214110 PEX5 5830 HP:0000262 Turricephaly OMIM:214110 PEX5 5830 HP:0001093 Optic nerve dysplasia OMIM:214110 PEX5 5830 HP:0000580 Pigmentary retinopathy OMIM:214110 PEX5 5830 HP:0001511 Intrauterine growth retardation OMIM:214110 PEX5 5830 HP:0002564 Malformation of the heart and great vessels OMIM:214110 PEX5 5830 HP:0000268 Dolichocephaly OMIM:214110 PEX5 5830 HP:0000175 Cleft palate OMIM:214110 PEX5 5830 HP:0001088 Brushfield spots OMIM:214110 PEX5 5830 HP:0001250 Seizures OMIM:214110 PEX5 5830 HP:0000028 Cryptorchidism OMIM:214110 PEX5 5830 HP:0001249 Intellectual disability OMIM:214110 PEX5 5830 HP:0001508 Failure to thrive OMIM:214110 PEX5 5830 HP:0000518 Cataract OMIM:214110 PEX5 5830 HP:0002033 Poor suck OMIM:214110 PEX5 5830 HP:0002967 Cubitus valgus OMIM:214110 PEX5 5830 HP:0000316 Hypertelorism OMIM:214110 PEX5 5830 HP:0003355 Aminoaciduria OMIM:214110 PEX5 5830 HP:0000286 Epicanthus OMIM:214110 PEX5 5830 HP:0000778 Hypoplasia of the thymus ORPHANET:955 NOTCH2 4853 HP:0002167 Neurological speech impairment ORPHANET:955 NOTCH2 4853 HP:0001231 Abnormality of the fingernails ORPHANET:955 NOTCH2 4853 HP:0200042 Skin ulcer ORPHANET:955 NOTCH2 4853 HP:0000545 Myopia ORPHANET:955 NOTCH2 4853 HP:0000347 Micrognathia ORPHANET:955 NOTCH2 4853 HP:0000256 Macrocephaly ORPHANET:955 NOTCH2 4853 HP:0000612 Iris coloboma ORPHANET:955 NOTCH2 4853 HP:0000293 Full cheeks ORPHANET:955 NOTCH2 4853 HP:0002714 Downturned corners of mouth ORPHANET:955 NOTCH2 4853 HP:0000316 Hypertelorism ORPHANET:955 NOTCH2 4853 HP:0002208 Coarse hair ORPHANET:955 NOTCH2 4853 HP:0009882 Short distal phalanx of finger ORPHANET:955 NOTCH2 4853 HP:0000431 Wide nasal bridge ORPHANET:955 NOTCH2 4853 HP:0000664 Synophrys ORPHANET:955 NOTCH2 4853 HP:0001744 Splenomegaly ORPHANET:955 NOTCH2 4853 HP:0000506 Telecanthus ORPHANET:955 NOTCH2 4853 HP:0002829 Arthralgia ORPHANET:955 NOTCH2 4853 HP:0000958 Dry skin ORPHANET:955 NOTCH2 4853 HP:0001382 Joint hypermobility ORPHANET:955 NOTCH2 4853 HP:0000238 Hydrocephalus ORPHANET:955 NOTCH2 4853 HP:0000269 Prominent occiput ORPHANET:955 NOTCH2 4853 HP:0002240 Hepatomegaly ORPHANET:955 NOTCH2 4853 HP:0010669 Cheekbone underdevelopment ORPHANET:955 NOTCH2 4853 HP:0002687 Abnormality of the frontal sinuses ORPHANET:955 NOTCH2 4853 HP:0000689 Dental malocclusion ORPHANET:955 NOTCH2 4853 HP:0009830 Peripheral neuropathy ORPHANET:955 NOTCH2 4853 HP:0000268 Dolichocephaly ORPHANET:955 NOTCH2 4853 HP:0002999 Patellar dislocation ORPHANET:955 NOTCH2 4853 HP:0000768 Pectus carinatum ORPHANET:955 NOTCH2 4853 HP:0100760 Clubbing of toes ORPHANET:955 NOTCH2 4853 HP:0001831 Short toe ORPHANET:955 NOTCH2 4853 HP:0002205 Recurrent respiratory infections ORPHANET:955 NOTCH2 4853 HP:0003396 Syringomyelia ORPHANET:955 NOTCH2 4853 HP:0004331 Decreased skull ossification ORPHANET:955 NOTCH2 4853 HP:0002566 Intestinal malrotation ORPHANET:955 NOTCH2 4853 HP:0000365 Hearing impairment ORPHANET:955 NOTCH2 4853 HP:0000463 Anteverted nares ORPHANET:955 NOTCH2 4853 HP:0001629 Ventricular septal defect ORPHANET:955 NOTCH2 4853 HP:0004349 Reduced bone mineral density ORPHANET:955 NOTCH2 4853 HP:0000294 Low anterior hairline ORPHANET:955 NOTCH2 4853 HP:0001537 Umbilical hernia ORPHANET:955 NOTCH2 4853 HP:0001608 Abnormality of the voice ORPHANET:955 NOTCH2 4853 HP:0002076 Migraine ORPHANET:955 NOTCH2 4853 HP:0000494 Downslanted palpebral fissures ORPHANET:955 NOTCH2 4853 HP:0006487 Bowing of the long bones ORPHANET:955 NOTCH2 4853 HP:0001718 Mitral stenosis ORPHANET:955 NOTCH2 4853 HP:0000113 Polycystic kidney dysplasia ORPHANET:955 NOTCH2 4853 HP:0000280 Coarse facial features ORPHANET:955 NOTCH2 4853 HP:0000470 Short neck ORPHANET:955 NOTCH2 4853 HP:0002308 Arnold-Chiari malformation ORPHANET:955 NOTCH2 4853 HP:0001643 Patent ductus arteriosus ORPHANET:955 NOTCH2 4853 HP:0001646 Abnormality of the aortic valve ORPHANET:955 NOTCH2 4853 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:955 NOTCH2 4853 HP:0002645 Wormian bones ORPHANET:955 NOTCH2 4853 HP:0002757 Recurrent fractures ORPHANET:955 NOTCH2 4853 HP:0000175 Cleft palate ORPHANET:955 NOTCH2 4853 HP:0000574 Thick eyebrow ORPHANET:955 NOTCH2 4853 HP:0004493 Craniofacial hyperostosis ORPHANET:955 NOTCH2 4853 HP:0002797 Osteolysis ORPHANET:955 NOTCH2 4853 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:955 NOTCH2 4853 HP:0001156 Brachydactyly syndrome ORPHANET:955 NOTCH2 4853 HP:0010185 Aplasia/Hypoplasia of the distal phalanges of the toes ORPHANET:955 NOTCH2 4853 HP:0002653 Bone pain ORPHANET:955 NOTCH2 4853 HP:0000233 Thin vermilion border ORPHANET:955 NOTCH2 4853 HP:0002808 Kyphosis ORPHANET:955 NOTCH2 4853 HP:0100627 Displacement of the external urethral meatus ORPHANET:955 NOTCH2 4853 HP:0000160 Narrow mouth ORPHANET:955 NOTCH2 4853 HP:0000518 Cataract ORPHANET:955 NOTCH2 4853 HP:0000704 Periodontitis ORPHANET:955 NOTCH2 4853 HP:0001072 Thickened skin ORPHANET:955 NOTCH2 4853 HP:0002650 Scoliosis ORPHANET:955 NOTCH2 4853 HP:0000343 Long philtrum OMIM:275100 TSHB 7252 HP:0000007 Autosomal recessive inheritance OMIM:275100 TSHB 7252 HP:0000260 Wide anterior fontanel OMIM:275100 TSHB 7252 HP:0008850 Severe postnatal growth retardation OMIM:275100 TSHB 7252 HP:0006887 Intellectual disability, progressive OMIM:275100 TSHB 7252 HP:0001539 Omphalocele OMIM:275100 TSHB 7252 HP:0000851 Congenital hypothyroidism OMIM:275100 TSHB 7252 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature OMIM:275100 TSHB 7252 HP:0000280 Coarse facial features OMIM:275100 TSHB 7252 HP:0000158 Macroglossia OMIM:275100 TSHB 7252 HP:0002019 Constipation OMIM:275100 TSHB 7252 HP:0001939 Abnormality of metabolism/homeostasis OMIM:275100 TSHB 7252 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:275100 TSHB 7252 HP:0001615 Hoarse cry OMIM:275100 TSHB 7252 HP:0002360 Sleep disturbance OMIM:275100 TSHB 7252 HP:0010864 Intellectual disability, severe OMIM:275100 TSHB 7252 HP:0001252 Muscular hypotonia OMIM:275100 TSHB 7252 HP:0001537 Umbilical hernia OMIM:275100 TSHB 7252 HP:0001392 Abnormality of the liver OMIM:275100 TSHB 7252 HP:0005280 Depressed nasal bridge OMIM:275100 TSHB 7252 HP:0000157 Abnormality of the tongue OMIM:614823 SMAD6 4091 HP:0004963 Calcification of the aorta OMIM:614823 SMAD6 4091 HP:0001680 Coarctation of aorta OMIM:614823 SMAD6 4091 HP:0001647 Bicuspid aortic valve OMIM:614823 SMAD6 4091 HP:0000006 Autosomal dominant inheritance OMIM:607941 GATA4 2626 HP:0001629 Ventricular septal defect OMIM:607941 GATA4 2626 HP:0006695 Atrioventricular canal defect OMIM:607941 GATA4 2626 HP:0001631 Defect in the atrial septum OMIM:607941 GATA4 2626 HP:0000006 Autosomal dominant inheritance OMIM:608807 TTN 7273 HP:0003701 Proximal muscle weakness OMIM:608807 TTN 7273 HP:0003236 Elevated serum creatine phosphokinase OMIM:608807 TTN 7273 HP:0000007 Autosomal recessive inheritance OMIM:608807 TTN 7273 HP:0011463 Childhood onset OMIM:608807 TTN 7273 HP:0003560 Muscular dystrophy OMIM:608807 TTN 7273 HP:0003458 EMG: myopathic abnormalities OMIM:608807 TTN 7273 HP:0002460 Distal muscle weakness ORPHANET:342 MEFV 4210 HP:0000100 Nephrotic syndrome ORPHANET:342 MEFV 4210 HP:0100796 Orchitis ORPHANET:342 MEFV 4210 HP:0001744 Splenomegaly ORPHANET:342 MEFV 4210 HP:0002633 Vasculitis ORPHANET:342 MEFV 4210 HP:0011675 Arrhythmia ORPHANET:342 MEFV 4210 HP:0002716 Lymphadenopathy ORPHANET:342 MEFV 4210 HP:0001055 Erysipelas ORPHANET:342 MEFV 4210 HP:0001733 Pancreatitis ORPHANET:342 MEFV 4210 HP:0005244 Gastrointestinal infarctions ORPHANET:342 MEFV 4210 HP:0002024 Malabsorption ORPHANET:342 MEFV 4210 HP:0006554 Acute hepatic failure ORPHANET:342 MEFV 4210 HP:0005214 Intestinal obstruction ORPHANET:342 MEFV 4210 HP:0010741 Edema of the lower limbs ORPHANET:342 MEFV 4210 HP:0002014 Diarrhea ORPHANET:342 MEFV 4210 HP:0002829 Arthralgia ORPHANET:342 MEFV 4210 HP:0004370 Abnormality of temperature regulation ORPHANET:342 MEFV 4210 HP:0000988 Skin rash ORPHANET:342 MEFV 4210 HP:0001677 Coronary artery disease ORPHANET:342 MEFV 4210 HP:0001287 Meningitis ORPHANET:342 MEFV 4210 HP:0000121 Nephrocalcinosis ORPHANET:342 MEFV 4210 HP:0002103 Abnormality of the pleura ORPHANET:342 MEFV 4210 HP:0002758 Osteoarthritis ORPHANET:342 MEFV 4210 HP:0001697 Abnormality of the pericardium ORPHANET:342 MEFV 4210 HP:0000093 Proteinuria ORPHANET:342 MEFV 4210 HP:0002019 Constipation ORPHANET:342 MEFV 4210 HP:0000163 Abnormality of the oral cavity ORPHANET:342 MEFV 4210 HP:0002017 Nausea and vomiting ORPHANET:342 MEFV 4210 HP:0003326 Myalgia ORPHANET:342 MEFV 4210 HP:0000112 Nephropathy ORPHANET:342 MEFV 4210 HP:0002027 Abdominal pain ORPHANET:342 MEFV 4210 HP:0100749 Chest pain ORPHANET:342 MEFV 4210 HP:0001250 Seizures ORPHANET:342 MEFV 4210 HP:0001541 Ascites OMIM:180500 PITX2 5308 HP:0011500 Polycoria OMIM:180500 PITX2 5308 HP:0000627 Posterior embryotoxon OMIM:180500 PITX2 5308 HP:0007676 Hypoplasia of the iris OMIM:180500 PITX2 5308 HP:0002023 Anal atresia OMIM:180500 PITX2 5308 HP:0000322 Short philtrum OMIM:180500 PITX2 5308 HP:0000482 Microcornea OMIM:180500 PITX2 5308 HP:0000006 Autosomal dominant inheritance OMIM:180500 PITX2 5308 HP:0000558 Rieger anomaly OMIM:180500 PITX2 5308 HP:0000219 Thin upper lip vermilion OMIM:180500 PITX2 5308 HP:0000824 Growth hormone deficiency OMIM:180500 PITX2 5308 HP:0000336 Prominent supraorbital ridges OMIM:180500 PITX2 5308 HP:0000485 Megalocornea OMIM:180500 PITX2 5308 HP:0003828 Variable expressivity OMIM:180500 PITX2 5308 HP:0000047 Hypospadias OMIM:180500 PITX2 5308 HP:0000327 Hypoplasia of the maxilla OMIM:180500 PITX2 5308 HP:0000501 Glaucoma OMIM:180500 PITX2 5308 HP:0000431 Wide nasal bridge OMIM:180500 PITX2 5308 HP:0007873 Abnormally prominent line of Schwalbe OMIM:180500 PITX2 5308 HP:0002025 Anal stenosis OMIM:180500 PITX2 5308 HP:0000668 Hypodontia OMIM:180500 PITX2 5308 HP:0000526 Aniridia OMIM:180500 PITX2 5308 HP:0004298 Abnormality of the abdominal wall OMIM:180500 PITX2 5308 HP:0000486 Strabismus OMIM:614583 ACTG1 71 HP:0004322 Short stature OMIM:614583 ACTG1 71 HP:0000316 Hypertelorism OMIM:614583 ACTG1 71 HP:0000006 Autosomal dominant inheritance OMIM:614583 ACTG1 71 HP:0000589 Coloboma OMIM:614583 ACTG1 71 HP:0000365 Hearing impairment OMIM:614583 ACTG1 71 HP:0000243 Trigonocephaly OMIM:614583 ACTG1 71 HP:0001250 Seizures OMIM:614583 ACTG1 71 HP:0001339 Lissencephaly OMIM:614583 ACTG1 71 HP:0001249 Intellectual disability OMIM:614583 ACTG1 71 HP:0002553 Highly arched eyebrow OMIM:614583 ACTG1 71 HP:0000508 Ptosis OMIM:614583 ACTG1 71 HP:0005484 Postnatal microcephaly OMIM:136140 SRCAP 10847 HP:0000430 Underdeveloped nasal alae OMIM:136140 SRCAP 10847 HP:0000499 Abnormality of the eyelashes OMIM:136140 SRCAP 10847 HP:0000243 Trigonocephaly OMIM:136140 SRCAP 10847 HP:0002750 Delayed skeletal maturation OMIM:136140 SRCAP 10847 HP:0004322 Short stature OMIM:136140 SRCAP 10847 HP:0000470 Short neck OMIM:136140 SRCAP 10847 HP:0000325 Triangular face OMIM:136140 SRCAP 10847 HP:0000233 Thin vermilion border OMIM:136140 SRCAP 10847 HP:0010230 Cone-shaped epiphyses of the phalanges of the hand OMIM:136140 SRCAP 10847 HP:0000047 Hypospadias OMIM:136140 SRCAP 10847 HP:0100543 Cognitive impairment OMIM:136140 SRCAP 10847 HP:0008736 Hypoplasia of penis OMIM:136140 SRCAP 10847 HP:0000486 Strabismus OMIM:136140 SRCAP 10847 HP:0001007 Hirsutism OMIM:136140 SRCAP 10847 HP:0000448 Prominent nose OMIM:136140 SRCAP 10847 HP:0000490 Deeply set eye OMIM:136140 SRCAP 10847 HP:0000431 Wide nasal bridge OMIM:136140 SRCAP 10847 HP:0000403 Recurrent otitis media OMIM:136140 SRCAP 10847 HP:0001680 Coarctation of aorta OMIM:136140 SRCAP 10847 HP:0007018 Attention deficit hyperactivity disorder OMIM:136140 SRCAP 10847 HP:0004209 Clinodactyly of the 5th finger OMIM:136140 SRCAP 10847 HP:0000154 Wide mouth OMIM:136140 SRCAP 10847 HP:0000998 Hypertrichosis OMIM:136140 SRCAP 10847 HP:0001376 Limitation of joint mobility OMIM:136140 SRCAP 10847 HP:0002162 Low posterior hairline OMIM:136140 SRCAP 10847 HP:0012871 Varicocele OMIM:136140 SRCAP 10847 HP:0000540 Hypermetropia OMIM:136140 SRCAP 10847 HP:0000126 Hydronephrosis OMIM:136140 SRCAP 10847 HP:0011599 Mesocardia OMIM:136140 SRCAP 10847 HP:0100490 Camptodactyly of finger OMIM:136140 SRCAP 10847 HP:0002608 Celiac disease OMIM:136140 SRCAP 10847 HP:0000405 Conductive hearing impairment OMIM:136140 SRCAP 10847 HP:0000319 Smooth philtrum OMIM:136140 SRCAP 10847 HP:0001231 Abnormality of the fingernails OMIM:136140 SRCAP 10847 HP:0010957 Congenital posterior urethral valve OMIM:136140 SRCAP 10847 HP:0010978 Abnormality of immune system physiology OMIM:136140 SRCAP 10847 HP:0002019 Constipation OMIM:136140 SRCAP 10847 HP:0000795 Abnormality of the urethra OMIM:136140 SRCAP 10847 HP:0100736 Abnormality of the soft palate OMIM:136140 SRCAP 10847 HP:0002474 Expressive language delay OMIM:136140 SRCAP 10847 HP:0002714 Downturned corners of mouth OMIM:136140 SRCAP 10847 HP:0000028 Cryptorchidism OMIM:136140 SRCAP 10847 HP:0001382 Joint hypermobility OMIM:136140 SRCAP 10847 HP:0000358 Posteriorly rotated ears OMIM:136140 SRCAP 10847 HP:0001608 Abnormality of the voice OMIM:136140 SRCAP 10847 HP:0009602 Abnormality of thumb phalanx OMIM:136140 SRCAP 10847 HP:0005301 Persistent left superior vena cava OMIM:136140 SRCAP 10847 HP:0000506 Telecanthus OMIM:136140 SRCAP 10847 HP:0001373 Joint dislocation OMIM:136140 SRCAP 10847 HP:0001156 Brachydactyly syndrome OMIM:136140 SRCAP 10847 HP:0000368 Low-set, posteriorly rotated ears OMIM:136140 SRCAP 10847 HP:0000322 Short philtrum OMIM:136140 SRCAP 10847 HP:0001388 Joint laxity OMIM:136140 SRCAP 10847 HP:0001537 Umbilical hernia OMIM:136140 SRCAP 10847 HP:0010761 Broad columella OMIM:136140 SRCAP 10847 HP:0000527 Long eyelashes OMIM:136140 SRCAP 10847 HP:0002167 Neurological speech impairment OMIM:136140 SRCAP 10847 HP:0001631 Defect in the atrial septum OMIM:136140 SRCAP 10847 HP:0002564 Malformation of the heart and great vessels OMIM:136140 SRCAP 10847 HP:0001511 Intrauterine growth retardation OMIM:136140 SRCAP 10847 HP:0000889 Abnormality of the clavicle OMIM:136140 SRCAP 10847 HP:0002024 Malabsorption OMIM:136140 SRCAP 10847 HP:0000006 Autosomal dominant inheritance OMIM:136140 SRCAP 10847 HP:0000023 Inguinal hernia OMIM:136140 SRCAP 10847 HP:0000121 Nephrocalcinosis OMIM:180105 IMPDH1 3614 HP:0001133 Constricted visual fields OMIM:180105 IMPDH1 3614 HP:0007737 Bony spicule pigmentary retinopathy OMIM:180105 IMPDH1 3614 HP:0007688 Absent rod-and cone-mediated responses on ERG OMIM:180105 IMPDH1 3614 HP:0003593 Infantile onset OMIM:180105 IMPDH1 3614 HP:0000662 Night blindness OMIM:180105 IMPDH1 3614 HP:0000510 Retinitis pigmentosa OMIM:239500 PRODH 5625 HP:0000112 Nephropathy OMIM:239500 PRODH 5625 HP:0003812 Phenotypic variability OMIM:239500 PRODH 5625 HP:0002133 Status epilepticus OMIM:239500 PRODH 5625 HP:0000093 Proteinuria OMIM:239500 PRODH 5625 HP:0001263 Global developmental delay OMIM:239500 PRODH 5625 HP:0008358 Hyperprolinemia OMIM:239500 PRODH 5625 HP:0001249 Intellectual disability OMIM:239500 PRODH 5625 HP:0003355 Aminoaciduria OMIM:239500 PRODH 5625 HP:0003137 Prolinuria OMIM:239500 PRODH 5625 HP:0001252 Muscular hypotonia OMIM:239500 PRODH 5625 HP:0003080 Hydroxyprolinuria OMIM:239500 PRODH 5625 HP:0000718 Aggressive behavior OMIM:239500 PRODH 5625 HP:0002353 EEG abnormality OMIM:239500 PRODH 5625 HP:0000733 Stereotypic behavior OMIM:239500 PRODH 5625 HP:0000752 Hyperactivity OMIM:239500 PRODH 5625 HP:0003108 Hyperglycinuria OMIM:239500 PRODH 5625 HP:0000007 Autosomal recessive inheritance OMIM:239500 PRODH 5625 HP:0001250 Seizures OMIM:217095 GDF1 2657 HP:0001636 Tetralogy of Fallot OMIM:217095 GDF1 2657 HP:0001669 Transposition of the great arteries OMIM:217095 GDF1 2657 HP:0001679 Abnormality of the aorta OMIM:217095 GDF1 2657 HP:0100259 Postaxial polydactyly OMIM:217095 GDF1 2657 HP:0004414 Abnormality of the pulmonary artery OMIM:217095 GDF1 2657 HP:0001660 Truncus arteriosus OMIM:217095 GDF1 2657 HP:0000007 Autosomal recessive inheritance OMIM:217095 GDF1 2657 HP:0001680 Coarctation of aorta OMIM:217095 GDF1 2657 HP:0001643 Patent ductus arteriosus OMIM:217095 GDF1 2657 HP:0001719 Double outlet right ventricle OMIM:217095 GDF1 2657 HP:0010055 Broad hallux OMIM:217095 GDF1 2657 HP:0001939 Abnormality of metabolism/homeostasis OMIM:217095 GDF1 2657 HP:0000316 Hypertelorism OMIM:217095 GDF1 2657 HP:0001674 Complete atrioventricular canal defect OMIM:217095 GATA6 2627 HP:0001636 Tetralogy of Fallot OMIM:217095 GATA6 2627 HP:0001669 Transposition of the great arteries OMIM:217095 GATA6 2627 HP:0001679 Abnormality of the aorta OMIM:217095 GATA6 2627 HP:0100259 Postaxial polydactyly OMIM:217095 GATA6 2627 HP:0004414 Abnormality of the pulmonary artery OMIM:217095 GATA6 2627 HP:0001660 Truncus arteriosus OMIM:217095 GATA6 2627 HP:0000007 Autosomal recessive inheritance OMIM:217095 GATA6 2627 HP:0001680 Coarctation of aorta OMIM:217095 GATA6 2627 HP:0001643 Patent ductus arteriosus OMIM:217095 GATA6 2627 HP:0001719 Double outlet right ventricle OMIM:217095 GATA6 2627 HP:0010055 Broad hallux OMIM:217095 GATA6 2627 HP:0001939 Abnormality of metabolism/homeostasis OMIM:217095 GATA6 2627 HP:0000316 Hypertelorism OMIM:217095 GATA6 2627 HP:0001674 Complete atrioventricular canal defect OMIM:217095 NKX2-6 137814 HP:0001636 Tetralogy of Fallot OMIM:217095 NKX2-6 137814 HP:0001669 Transposition of the great arteries OMIM:217095 NKX2-6 137814 HP:0001679 Abnormality of the aorta OMIM:217095 NKX2-6 137814 HP:0100259 Postaxial polydactyly OMIM:217095 NKX2-6 137814 HP:0004414 Abnormality of the pulmonary artery OMIM:217095 NKX2-6 137814 HP:0001660 Truncus arteriosus OMIM:217095 NKX2-6 137814 HP:0000007 Autosomal recessive inheritance OMIM:217095 NKX2-6 137814 HP:0001680 Coarctation of aorta OMIM:217095 NKX2-6 137814 HP:0001643 Patent ductus arteriosus OMIM:217095 NKX2-6 137814 HP:0001719 Double outlet right ventricle OMIM:217095 NKX2-6 137814 HP:0010055 Broad hallux OMIM:217095 NKX2-6 137814 HP:0001939 Abnormality of metabolism/homeostasis OMIM:217095 NKX2-6 137814 HP:0000316 Hypertelorism OMIM:217095 NKX2-6 137814 HP:0001674 Complete atrioventricular canal defect OMIM:217095 TBX1 6899 HP:0001636 Tetralogy of Fallot OMIM:217095 TBX1 6899 HP:0001669 Transposition of the great arteries OMIM:217095 TBX1 6899 HP:0001679 Abnormality of the aorta OMIM:217095 TBX1 6899 HP:0100259 Postaxial polydactyly OMIM:217095 TBX1 6899 HP:0004414 Abnormality of the pulmonary artery OMIM:217095 TBX1 6899 HP:0001660 Truncus arteriosus OMIM:217095 TBX1 6899 HP:0000007 Autosomal recessive inheritance OMIM:217095 TBX1 6899 HP:0001680 Coarctation of aorta OMIM:217095 TBX1 6899 HP:0001643 Patent ductus arteriosus OMIM:217095 TBX1 6899 HP:0001719 Double outlet right ventricle OMIM:217095 TBX1 6899 HP:0010055 Broad hallux OMIM:217095 TBX1 6899 HP:0001939 Abnormality of metabolism/homeostasis OMIM:217095 TBX1 6899 HP:0000316 Hypertelorism OMIM:217095 TBX1 6899 HP:0001674 Complete atrioventricular canal defect OMIM:217095 NKX2-5 1482 HP:0001636 Tetralogy of Fallot OMIM:217095 NKX2-5 1482 HP:0001669 Transposition of the great arteries OMIM:217095 NKX2-5 1482 HP:0001679 Abnormality of the aorta OMIM:217095 NKX2-5 1482 HP:0100259 Postaxial polydactyly OMIM:217095 NKX2-5 1482 HP:0004414 Abnormality of the pulmonary artery OMIM:217095 NKX2-5 1482 HP:0001660 Truncus arteriosus OMIM:217095 NKX2-5 1482 HP:0000007 Autosomal recessive inheritance OMIM:217095 NKX2-5 1482 HP:0001680 Coarctation of aorta OMIM:217095 NKX2-5 1482 HP:0001643 Patent ductus arteriosus OMIM:217095 NKX2-5 1482 HP:0001719 Double outlet right ventricle OMIM:217095 NKX2-5 1482 HP:0010055 Broad hallux OMIM:217095 NKX2-5 1482 HP:0001939 Abnormality of metabolism/homeostasis OMIM:217095 NKX2-5 1482 HP:0000316 Hypertelorism OMIM:217095 NKX2-5 1482 HP:0001674 Complete atrioventricular canal defect OMIM:217095 CFC1 55997 HP:0001636 Tetralogy of Fallot OMIM:217095 CFC1 55997 HP:0001669 Transposition of the great arteries OMIM:217095 CFC1 55997 HP:0001679 Abnormality of the aorta OMIM:217095 CFC1 55997 HP:0100259 Postaxial polydactyly OMIM:217095 CFC1 55997 HP:0004414 Abnormality of the pulmonary artery OMIM:217095 CFC1 55997 HP:0001660 Truncus arteriosus OMIM:217095 CFC1 55997 HP:0000007 Autosomal recessive inheritance OMIM:217095 CFC1 55997 HP:0001680 Coarctation of aorta OMIM:217095 CFC1 55997 HP:0001643 Patent ductus arteriosus OMIM:217095 CFC1 55997 HP:0001719 Double outlet right ventricle OMIM:217095 CFC1 55997 HP:0010055 Broad hallux OMIM:217095 CFC1 55997 HP:0001939 Abnormality of metabolism/homeostasis OMIM:217095 CFC1 55997 HP:0000316 Hypertelorism OMIM:217095 CFC1 55997 HP:0001674 Complete atrioventricular canal defect OMIM:266100 ALDH7A1 501 HP:0002123 Generalized myoclonic seizures OMIM:266100 ALDH7A1 501 HP:0002120 Cerebral cortical atrophy OMIM:266100 ALDH7A1 501 HP:0001939 Abnormality of metabolism/homeostasis OMIM:266100 ALDH7A1 501 HP:0001250 Seizures OMIM:266100 ALDH7A1 501 HP:0001249 Intellectual disability OMIM:266100 ALDH7A1 501 HP:0001252 Muscular hypotonia OMIM:266100 ALDH7A1 501 HP:0100543 Cognitive impairment OMIM:266100 ALDH7A1 501 HP:0000007 Autosomal recessive inheritance OMIM:266100 ALDH7A1 501 HP:0002133 Status epilepticus OMIM:266100 ALDH7A1 501 HP:0002353 EEG abnormality OMIM:266100 ALDH7A1 501 HP:0000486 Strabismus OMIM:266100 ALDH7A1 501 HP:0002069 Generalized tonic-clonic seizures OMIM:266100 ALDH7A1 501 HP:0002098 Respiratory distress OMIM:266100 ALDH7A1 501 HP:0002643 Neonatal respiratory distress OMIM:266100 ALDH7A1 501 HP:0000750 Delayed speech and language development OMIM:266100 ALDH7A1 501 HP:0100022 Abnormality of movement OMIM:266100 ALDH7A1 501 HP:0002119 Ventriculomegaly OMIM:266100 ALDH7A1 501 HP:0002240 Hepatomegaly OMIM:266100 ALDH7A1 501 HP:0002167 Neurological speech impairment OMIM:266100 ALDH7A1 501 HP:0001557 Prenatal movement abnormality OMIM:157600 DCC 1630 HP:0001335 Bimanual synkinesia OMIM:157600 DCC 1630 HP:0000006 Autosomal dominant inheritance OMIM:157600 DCC 1630 HP:0003829 Incomplete penetrance OMIM:179800 SLC4A1 6521 HP:0008897 Postnatal growth retardation OMIM:179800 SLC4A1 6521 HP:0000006 Autosomal dominant inheritance OMIM:179800 SLC4A1 6521 HP:0002749 Osteomalacia OMIM:179800 SLC4A1 6521 HP:0003768 Periodic paralysis OMIM:179800 SLC4A1 6521 HP:0002901 Hypocalcemia OMIM:179800 SLC4A1 6521 HP:0008153 Periodic hypokalemic paresis OMIM:179800 SLC4A1 6521 HP:0000121 Nephrocalcinosis OMIM:179800 SLC4A1 6521 HP:0001947 Renal tubular acidosis OMIM:179800 SLC4A1 6521 HP:0002756 Pathologic fracture OMIM:614893 IRF8 3394 HP:0004370 Abnormality of temperature regulation OMIM:614893 IRF8 3394 HP:0010978 Abnormality of immune system physiology OMIM:614893 IRF8 3394 HP:0002716 Lymphadenopathy OMIM:300894 WDR45 11152 HP:0000718 Aggressive behavior OMIM:300894 WDR45 11152 HP:0001249 Intellectual disability OMIM:300894 WDR45 11152 HP:0002067 Bradykinesia OMIM:300894 WDR45 11152 HP:0001423 X-linked dominant inheritance OMIM:300894 WDR45 11152 HP:0002459 Dysautonomia OMIM:300894 WDR45 11152 HP:0002313 Spastic paraparesis OMIM:300894 WDR45 11152 HP:0002465 Poor speech OMIM:300894 WDR45 11152 HP:0001250 Seizures OMIM:300894 WDR45 11152 HP:0000496 Abnormality of eye movement OMIM:300894 WDR45 11152 HP:0000743 Frontal release signs OMIM:300894 WDR45 11152 HP:0001337 Tremor OMIM:300894 WDR45 11152 HP:0001263 Global developmental delay OMIM:300894 WDR45 11152 HP:0002180 Neurodegeneration OMIM:300894 WDR45 11152 HP:0001332 Dystonia OMIM:300894 WDR45 11152 HP:0001272 Cerebellar atrophy OMIM:300894 WDR45 11152 HP:0001344 Absent speech OMIM:300894 WDR45 11152 HP:0002063 Rigidity OMIM:300894 WDR45 11152 HP:0000726 Dementia OMIM:300894 WDR45 11152 HP:0001300 Parkinsonism OMIM:300894 WDR45 11152 HP:0002059 Cerebral atrophy OMIM:603830 SCN5A 6331 HP:0001645 Sudden cardiac death OMIM:603830 SCN5A 6331 HP:0001663 Ventricular fibrillation OMIM:603830 SCN5A 6331 HP:0001657 Prolonged QT interval OMIM:603830 SCN5A 6331 HP:0000006 Autosomal dominant inheritance OMIM:603830 SCN5A 6331 HP:0001664 Torsade de pointes OMIM:603830 SCN5A 6331 HP:0001279 Syncope OMIM:615429 ELMOD3 84173 HP:0000007 Autosomal recessive inheritance OMIM:615429 ELMOD3 84173 HP:0000365 Hearing impairment OMIM:604369 SLC17A5 26503 HP:0001922 Vacuolated lymphocytes OMIM:604369 SLC17A5 26503 HP:0001251 Ataxia OMIM:604369 SLC17A5 26503 HP:0001939 Abnormality of metabolism/homeostasis OMIM:604369 SLC17A5 26503 HP:0000639 Nystagmus OMIM:604369 SLC17A5 26503 HP:0002540 Inability to walk OMIM:604369 SLC17A5 26503 HP:0001263 Global developmental delay OMIM:604369 SLC17A5 26503 HP:0000007 Autosomal recessive inheritance OMIM:604369 SLC17A5 26503 HP:0001257 Spasticity OMIM:604369 SLC17A5 26503 HP:0001250 Seizures OMIM:604369 SLC17A5 26503 HP:0002684 Thickened calvaria OMIM:604369 SLC17A5 26503 HP:0002305 Athetosis OMIM:604369 SLC17A5 26503 HP:0001252 Muscular hypotonia OMIM:604369 SLC17A5 26503 HP:0001510 Growth delay OMIM:604369 SLC17A5 26503 HP:0001249 Intellectual disability OMIM:604369 SLC17A5 26503 HP:0000750 Delayed speech and language development OMIM:604369 SLC17A5 26503 HP:0000577 Exotropia OMIM:604369 SLC17A5 26503 HP:0001260 Dysarthria OMIM:300423 ATP6AP2 10159 HP:0001419 X-linked recessive inheritance OMIM:300423 ATP6AP2 10159 HP:0000750 Delayed speech and language development OMIM:300423 ATP6AP2 10159 HP:0002069 Generalized tonic-clonic seizures OMIM:300423 ATP6AP2 10159 HP:0001270 Motor delay OMIM:300423 ATP6AP2 10159 HP:0001249 Intellectual disability OMIM:300423 ATP6AP2 10159 HP:0003593 Infantile onset OMIM:234500 SLC6A19 340024 HP:0000988 Skin rash OMIM:234500 SLC6A19 340024 HP:0008353 Neutral hyperaminoaciduria OMIM:234500 SLC6A19 340024 HP:0000206 Glossitis OMIM:234500 SLC6A19 340024 HP:0007400 Irregular hyperpigmentation OMIM:234500 SLC6A19 340024 HP:0002353 EEG abnormality OMIM:234500 SLC6A19 340024 HP:0001263 Global developmental delay OMIM:234500 SLC6A19 340024 HP:0004322 Short stature OMIM:234500 SLC6A19 340024 HP:0000486 Strabismus OMIM:234500 SLC6A19 340024 HP:0000738 Hallucinations OMIM:234500 SLC6A19 340024 HP:0000007 Autosomal recessive inheritance OMIM:234500 SLC6A19 340024 HP:0001053 Hypopigmented skin patches OMIM:234500 SLC6A19 340024 HP:0000613 Photophobia OMIM:234500 SLC6A19 340024 HP:0100543 Cognitive impairment OMIM:234500 SLC6A19 340024 HP:0000639 Nystagmus OMIM:234500 SLC6A19 340024 HP:0000712 Emotional lability OMIM:234500 SLC6A19 340024 HP:0001250 Seizures OMIM:234500 SLC6A19 340024 HP:0002131 Episodic ataxia OMIM:234500 SLC6A19 340024 HP:0001347 Hyperreflexia OMIM:234500 SLC6A19 340024 HP:0008066 Abnormal blistering of the skin OMIM:234500 SLC6A19 340024 HP:0002311 Incoordination OMIM:234500 SLC6A19 340024 HP:0000230 Gingivitis OMIM:234500 SLC6A19 340024 HP:0000992 Cutaneous photosensitivity OMIM:234500 SLC6A19 340024 HP:0001276 Hypertonia OMIM:234500 SLC6A19 340024 HP:0002076 Migraine OMIM:234500 SLC6A19 340024 HP:0002383 Encephalitis OMIM:234500 SLC6A19 340024 HP:0000709 Psychosis OMIM:234500 SLC6A19 340024 HP:0001252 Muscular hypotonia OMIM:234500 SLC6A19 340024 HP:0002024 Malabsorption OMIM:186830 CD3E 916 HP:0002721 Immunodeficiency OMIM:186830 CD3E 916 HP:0000006 Autosomal dominant inheritance OMIM:219500 CTH 1491 HP:0000007 Autosomal recessive inheritance OMIM:219500 CTH 1491 HP:0003153 Cystathioninuria ORPHANET:3366 FREM1 158326 HP:0000336 Prominent supraorbital ridges ORPHANET:3366 FREM1 158326 HP:0001539 Omphalocele ORPHANET:3366 FREM1 158326 HP:0000431 Wide nasal bridge ORPHANET:3366 FREM1 158326 HP:0000664 Synophrys ORPHANET:3366 FREM1 158326 HP:0000601 Hypotelorism ORPHANET:3366 FREM1 158326 HP:0000243 Trigonocephaly ORPHANET:3366 FGFR1 2260 HP:0000336 Prominent supraorbital ridges ORPHANET:3366 FGFR1 2260 HP:0001539 Omphalocele ORPHANET:3366 FGFR1 2260 HP:0000431 Wide nasal bridge ORPHANET:3366 FGFR1 2260 HP:0000664 Synophrys ORPHANET:3366 FGFR1 2260 HP:0000601 Hypotelorism ORPHANET:3366 FGFR1 2260 HP:0000243 Trigonocephaly OMIM:218340 C12ORF57 113246 HP:0000007 Autosomal recessive inheritance OMIM:218340 C12ORF57 113246 HP:0000276 Long face OMIM:218340 C12ORF57 113246 HP:0003593 Infantile onset OMIM:218340 C12ORF57 113246 HP:0001659 Aortic regurgitation OMIM:218340 C12ORF57 113246 HP:0002827 Hip dislocation OMIM:218340 C12ORF57 113246 HP:0001831 Short toe OMIM:218340 C12ORF57 113246 HP:0000612 Iris coloboma OMIM:218340 C12ORF57 113246 HP:0100543 Cognitive impairment OMIM:218340 C12ORF57 113246 HP:0002119 Ventriculomegaly OMIM:218340 C12ORF57 113246 HP:0000368 Low-set, posteriorly rotated ears OMIM:218340 C12ORF57 113246 HP:0000316 Hypertelorism OMIM:218340 C12ORF57 113246 HP:0001250 Seizures OMIM:218340 C12ORF57 113246 HP:0000174 Abnormality of the palate OMIM:218340 C12ORF57 113246 HP:0000545 Myopia OMIM:218340 C12ORF57 113246 HP:0000494 Downslanted palpebral fissures OMIM:218340 C12ORF57 113246 HP:0001156 Brachydactyly syndrome OMIM:218340 C12ORF57 113246 HP:0001263 Global developmental delay OMIM:218340 C12ORF57 113246 HP:0000678 Dental crowding OMIM:218340 C12ORF57 113246 HP:0001885 Short 2nd toe OMIM:218340 C12ORF57 113246 HP:0002007 Frontal bossing OMIM:218340 C12ORF57 113246 HP:0002970 Genu varum OMIM:218340 C12ORF57 113246 HP:0001724 Aortic dilatation OMIM:218340 C12ORF57 113246 HP:0000506 Telecanthus OMIM:218340 C12ORF57 113246 HP:0000567 Chorioretinal coloboma OMIM:218340 C12ORF57 113246 HP:0000369 Low-set ears OMIM:218340 C12ORF57 113246 HP:0001274 Agenesis of corpus callosum OMIM:218340 C12ORF57 113246 HP:0000268 Dolichocephaly OMIM:218340 C12ORF57 113246 HP:0000444 Convex nasal ridge OMIM:218340 C12ORF57 113246 HP:0001252 Muscular hypotonia OMIM:218340 C12ORF57 113246 HP:0000685 Hypoplasia of teeth OMIM:218340 C12ORF57 113246 HP:0000256 Macrocephaly OMIM:218340 C12ORF57 113246 HP:0002553 Highly arched eyebrow OMIM:218340 C12ORF57 113246 HP:0000394 Lop ear OMIM:218340 C12ORF57 113246 HP:0000347 Micrognathia OMIM:218340 C12ORF57 113246 HP:0000343 Long philtrum OMIM:218340 C12ORF57 113246 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:218340 C12ORF57 113246 HP:0004209 Clinodactyly of the 5th finger OMIM:218340 C12ORF57 113246 HP:0001256 Intellectual disability, mild OMIM:218340 C12ORF57 113246 HP:0001762 Talipes equinovarus OMIM:218340 C12ORF57 113246 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:218340 C12ORF57 113246 HP:0001763 Pes planus OMIM:218340 C12ORF57 113246 HP:0000324 Facial asymmetry OMIM:218340 C12ORF57 113246 HP:0001382 Joint hypermobility OMIM:218340 C12ORF57 113246 HP:0001083 Ectopia lentis OMIM:218340 C12ORF57 113246 HP:0000280 Coarse facial features OMIM:218340 C12ORF57 113246 HP:0000179 Thick lower lip vermilion OMIM:600634 AIP 9049 HP:0006767 Pituitary prolactin cell adenoma ORPHANET:1949 KCNQ2 3785 HP:0100543 Cognitive impairment ORPHANET:1949 KCNQ2 3785 HP:0001276 Hypertonia ORPHANET:1949 KCNQ2 3785 HP:0001250 Seizures ORPHANET:1949 KCNQ3 3786 HP:0100543 Cognitive impairment ORPHANET:1949 KCNQ3 3786 HP:0001276 Hypertonia ORPHANET:1949 KCNQ3 3786 HP:0001250 Seizures OMIM:613759 FADD 8772 HP:0002719 Recurrent infections OMIM:613759 FADD 8772 HP:0001629 Ventricular septal defect OMIM:613759 FADD 8772 HP:0004935 Pulmonary artery atresia OMIM:613759 FADD 8772 HP:0000007 Autosomal recessive inheritance OMIM:613759 FADD 8772 HP:0002059 Cerebral atrophy OMIM:613759 FADD 8772 HP:0001298 Encephalopathy OMIM:613759 FADD 8772 HP:0001250 Seizures OMIM:613759 FADD 8772 HP:0001410 Decreased liver function OMIM:613988 WRAP53 55135 HP:0001000 Abnormality of skin pigmentation OMIM:613988 WRAP53 55135 HP:0008404 Nail dystrophy OMIM:613988 WRAP53 55135 HP:0001876 Pancytopenia OMIM:613988 WRAP53 55135 HP:0005528 Bone marrow hypocellularity OMIM:613988 WRAP53 55135 HP:0000007 Autosomal recessive inheritance OMIM:613988 WRAP53 55135 HP:0002860 Squamous cell carcinoma OMIM:613988 WRAP53 55135 HP:0002164 Nail dysplasia OMIM:613112 TUBB1 81027 HP:0000006 Autosomal dominant inheritance OMIM:601005 CACNA1C 775 HP:0001699 Sudden death OMIM:601005 CACNA1C 775 HP:0001159 Syndactyly OMIM:601005 CACNA1C 775 HP:0001657 Prolonged QT interval OMIM:614175 B9D2 80776 HP:0002085 Occipital encephalocele OMIM:614175 B9D2 80776 HP:0002323 Anencephaly OMIM:614175 B9D2 80776 HP:0100259 Postaxial polydactyly OMIM:614175 B9D2 80776 HP:0000107 Renal cyst OMIM:614175 B9D2 80776 HP:0000960 Sacral dimple OMIM:614175 B9D2 80776 HP:0000007 Autosomal recessive inheritance OMIM:248700 PIEZO2 63895 HP:0000160 Narrow mouth OMIM:248700 PIEZO2 63895 HP:0000486 Strabismus OMIM:248700 PIEZO2 63895 HP:0000766 Abnormality of the sternum OMIM:248700 PIEZO2 63895 HP:0000470 Short neck OMIM:248700 PIEZO2 63895 HP:0000298 Mask-like facies OMIM:248700 PIEZO2 63895 HP:0002021 Pyloric stenosis OMIM:248700 PIEZO2 63895 HP:0002974 Radioulnar synostosis OMIM:248700 PIEZO2 63895 HP:0004322 Short stature OMIM:248700 PIEZO2 63895 HP:0002803 Congenital contracture OMIM:248700 PIEZO2 63895 HP:0001651 Dextrocardia OMIM:248700 PIEZO2 63895 HP:0000581 Blepharophimosis OMIM:248700 PIEZO2 63895 HP:0000767 Pectus excavatum OMIM:248700 PIEZO2 63895 HP:0002808 Kyphosis OMIM:248700 PIEZO2 63895 HP:0007068 Inferior vermis hypoplasia OMIM:248700 PIEZO2 63895 HP:0001250 Seizures OMIM:248700 PIEZO2 63895 HP:0000508 Ptosis OMIM:248700 PIEZO2 63895 HP:0003199 Decreased muscle mass OMIM:248700 PIEZO2 63895 HP:0001376 Limitation of joint mobility OMIM:248700 PIEZO2 63895 HP:0000007 Autosomal recessive inheritance OMIM:248700 PIEZO2 63895 HP:0002650 Scoliosis OMIM:248700 PIEZO2 63895 HP:0002476 Primitive reflexes (palmomental, snout, glabellar) OMIM:248700 PIEZO2 63895 HP:0000347 Micrognathia OMIM:248700 PIEZO2 63895 HP:0000316 Hypertelorism OMIM:248700 PIEZO2 63895 HP:0000463 Anteverted nares OMIM:248700 PIEZO2 63895 HP:0002804 Arthrogryposis multiplex congenita OMIM:248700 PIEZO2 63895 HP:0000175 Cleft palate OMIM:248700 PIEZO2 63895 HP:0001166 Arachnodactyly OMIM:248700 PIEZO2 63895 HP:0100543 Cognitive impairment OMIM:248700 PIEZO2 63895 HP:0003202 Skeletal muscle atrophy OMIM:248700 PIEZO2 63895 HP:0001321 Cerebellar hypoplasia OMIM:248700 PIEZO2 63895 HP:0000568 Microphthalmos OMIM:248700 PIEZO2 63895 HP:0001629 Ventricular septal defect OMIM:248700 PIEZO2 63895 HP:0000768 Pectus carinatum OMIM:248700 PIEZO2 63895 HP:0000023 Inguinal hernia OMIM:248700 PIEZO2 63895 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:248700 PIEZO2 63895 HP:0000054 Micropenis OMIM:248700 PIEZO2 63895 HP:0000252 Microcephaly OMIM:248700 PIEZO2 63895 HP:0008897 Postnatal growth retardation OMIM:248700 PIEZO2 63895 HP:0001883 Talipes OMIM:248700 PIEZO2 63895 HP:0002089 Pulmonary hypoplasia OMIM:248700 PIEZO2 63895 HP:0000368 Low-set, posteriorly rotated ears OMIM:248700 PIEZO2 63895 HP:0001511 Intrauterine growth retardation OMIM:248700 PIEZO2 63895 HP:0100490 Camptodactyly of finger OMIM:248700 PIEZO2 63895 HP:0000238 Hydrocephalus OMIM:248700 PIEZO2 63895 HP:0000286 Epicanthus OMIM:248700 PIEZO2 63895 HP:0100627 Displacement of the external urethral meatus OMIM:248700 PIEZO2 63895 HP:0001696 Situs inversus totalis OMIM:248700 PIEZO2 63895 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:248700 PIEZO2 63895 HP:0001762 Talipes equinovarus OMIM:248700 PIEZO2 63895 HP:0001305 Dandy-Walker malformation OMIM:248700 PIEZO2 63895 HP:0000089 Renal hypoplasia OMIM:248700 PIEZO2 63895 HP:0008678 Renal hypoplasia/aplasia OMIM:248700 PIEZO2 63895 HP:0001249 Intellectual disability OMIM:248700 PIEZO2 63895 HP:0012385 Camptodactyly OMIM:248700 PIEZO2 63895 HP:0000343 Long philtrum OMIM:248700 PIEZO2 63895 HP:0009473 Joint contracture of the hand OMIM:248700 PIEZO2 63895 HP:0007018 Attention deficit hyperactivity disorder OMIM:248700 PIEZO2 63895 HP:0000047 Hypospadias OMIM:248700 PIEZO2 63895 HP:0000260 Wide anterior fontanel OMIM:248700 PIEZO2 63895 HP:0001274 Agenesis of corpus callosum OMIM:248700 PIEZO2 63895 HP:0002365 Hypoplasia of the brainstem OMIM:248700 PIEZO2 63895 HP:0000028 Cryptorchidism OMIM:248700 PIEZO2 63895 HP:0002044 Zollinger-Ellison syndrome OMIM:248700 PIEZO2 63895 HP:0000369 Low-set ears OMIM:248700 PIEZO2 63895 HP:0005329 Fixed facial expression OMIM:248700 PIEZO2 63895 HP:0000003 Multicystic kidney dysplasia OMIM:248700 PIEZO2 63895 HP:0000218 High palate OMIM:248700 PIEZO2 63895 HP:0001252 Muscular hypotonia OMIM:248700 PIEZO2 63895 HP:0003312 Abnormal form of the vertebral bodies OMIM:235555 AKR1D1 6718 HP:0003155 Elevated alkaline phosphatase OMIM:235555 AKR1D1 6718 HP:0001508 Failure to thrive OMIM:235555 AKR1D1 6718 HP:0000007 Autosomal recessive inheritance OMIM:235555 AKR1D1 6718 HP:0002240 Hepatomegaly OMIM:235555 AKR1D1 6718 HP:0002024 Malabsorption OMIM:235555 AKR1D1 6718 HP:0001744 Splenomegaly OMIM:235555 AKR1D1 6718 HP:0001406 Intrahepatic cholestasis OMIM:235555 AKR1D1 6718 HP:0003623 Neonatal onset OMIM:235555 AKR1D1 6718 HP:0000952 Jaundice OMIM:235555 AKR1D1 6718 HP:0002910 Elevated hepatic transaminases OMIM:235555 AKR1D1 6718 HP:0100626 Chronic hepatic failure OMIM:235555 AKR1D1 6718 HP:0001394 Cirrhosis OMIM:235555 AKR1D1 6718 HP:0002570 Steatorrhea OMIM:235555 AKR1D1 6718 HP:0002014 Diarrhea OMIM:235555 AKR1D1 6718 HP:0002904 Hyperbilirubinemia OMIM:235555 AKR1D1 6718 HP:0004349 Reduced bone mineral density OMIM:235555 AKR1D1 6718 HP:0001399 Hepatic failure OMIM:235555 AKR1D1 6718 HP:0003256 Abnormality of the coagulation cascade OMIM:612290 HOXA2 3199 HP:0008551 Microtia OMIM:612290 HOXA2 3199 HP:0000175 Cleft palate OMIM:612290 HOXA2 3199 HP:0000410 Mixed hearing impairment OMIM:612290 HOXA2 3199 HP:0000006 Autosomal dominant inheritance OMIM:612290 HOXA2 3199 HP:0000007 Autosomal recessive inheritance OMIM:615528 DNAJC6 9829 HP:0002172 Postural instability OMIM:615528 DNAJC6 9829 HP:0003678 Rapidly progressive OMIM:615528 DNAJC6 9829 HP:0002063 Rigidity OMIM:615528 DNAJC6 9829 HP:0001249 Intellectual disability OMIM:615528 DNAJC6 9829 HP:0001250 Seizures OMIM:615528 DNAJC6 9829 HP:0002362 Shuffling gait OMIM:615528 DNAJC6 9829 HP:0001300 Parkinsonism OMIM:615528 DNAJC6 9829 HP:0001337 Tremor OMIM:615528 DNAJC6 9829 HP:0000007 Autosomal recessive inheritance OMIM:615528 DNAJC6 9829 HP:0000571 Hypometric saccades OMIM:615528 DNAJC6 9829 HP:0001260 Dysarthria OMIM:615528 DNAJC6 9829 HP:0001332 Dystonia OMIM:615528 DNAJC6 9829 HP:0002067 Bradykinesia OMIM:615528 DNAJC6 9829 HP:0007256 Abnormal pyramidal signs ORPHANET:2704 LRIG2 9860 HP:0000822 Hypertension ORPHANET:2704 LRIG2 9860 HP:0000795 Abnormality of the urethra ORPHANET:2704 LRIG2 9860 HP:0002607 Bowel incontinence ORPHANET:2704 LRIG2 9860 HP:0000028 Cryptorchidism ORPHANET:2704 LRIG2 9860 HP:0000083 Renal insufficiency ORPHANET:2704 LRIG2 9860 HP:0002019 Constipation ORPHANET:2704 LRIG2 9860 HP:0000076 Vesicoureteral reflux ORPHANET:2704 LRIG2 9860 HP:0000010 Recurrent urinary tract infections ORPHANET:2704 HPSE2 60495 HP:0000822 Hypertension ORPHANET:2704 HPSE2 60495 HP:0000795 Abnormality of the urethra ORPHANET:2704 HPSE2 60495 HP:0002607 Bowel incontinence ORPHANET:2704 HPSE2 60495 HP:0000028 Cryptorchidism ORPHANET:2704 HPSE2 60495 HP:0000083 Renal insufficiency ORPHANET:2704 HPSE2 60495 HP:0002019 Constipation ORPHANET:2704 HPSE2 60495 HP:0000076 Vesicoureteral reflux ORPHANET:2704 HPSE2 60495 HP:0000010 Recurrent urinary tract infections OMIM:615926 ARNT2 9915 HP:0000278 Retrognathia OMIM:615926 ARNT2 9915 HP:0011220 Prominent forehead OMIM:615926 ARNT2 9915 HP:0002827 Hip dislocation OMIM:615926 ARNT2 9915 HP:0000126 Hydronephrosis OMIM:615926 ARNT2 9915 HP:0000252 Microcephaly OMIM:615926 ARNT2 9915 HP:0000076 Vesicoureteral reflux OMIM:615926 ARNT2 9915 HP:0003228 Hypernatremia OMIM:615926 ARNT2 9915 HP:0000028 Cryptorchidism OMIM:615926 ARNT2 9915 HP:0001257 Spasticity OMIM:615926 ARNT2 9915 HP:0008245 Pituitary hypothyroidism OMIM:615926 ARNT2 9915 HP:0001250 Seizures OMIM:615926 ARNT2 9915 HP:0000824 Growth hormone deficiency OMIM:615926 ARNT2 9915 HP:0000490 Deeply set eye OMIM:615926 ARNT2 9915 HP:0012448 Delayed myelination OMIM:615926 ARNT2 9915 HP:0001263 Global developmental delay OMIM:615926 ARNT2 9915 HP:0002079 Hypoplasia of the corpus callosum OMIM:615926 ARNT2 9915 HP:0002020 Gastroesophageal reflux OMIM:615926 ARNT2 9915 HP:0000011 Neurogenic bladder OMIM:615926 ARNT2 9915 HP:0000873 Diabetes insipidus OMIM:258315 GPC6 10082 HP:0005736 Short tibia OMIM:258315 GPC6 10082 HP:0001060 Axillary pterygia OMIM:258315 GPC6 10082 HP:0008873 Disproportionate short-limb short stature OMIM:258315 GPC6 10082 HP:0002823 Abnormality of the femur OMIM:258315 GPC6 10082 HP:0100543 Cognitive impairment OMIM:258315 GPC6 10082 HP:0012368 Flat face OMIM:258315 GPC6 10082 HP:0003038 Fibular hypoplasia OMIM:258315 GPC6 10082 HP:0009756 Popliteal pterygium OMIM:258315 GPC6 10082 HP:0005060 Limited elbow flexion/extension OMIM:258315 GPC6 10082 HP:0000343 Long philtrum OMIM:258315 GPC6 10082 HP:0002564 Malformation of the heart and great vessels OMIM:258315 GPC6 10082 HP:0003196 Short nose OMIM:258315 GPC6 10082 HP:0010880 Increased nuchal translucency OMIM:258315 GPC6 10082 HP:0001377 Limited elbow extension OMIM:258315 GPC6 10082 HP:0005050 Anterolateral radial head dislocation OMIM:258315 GPC6 10082 HP:0002983 Micromelia OMIM:258315 GPC6 10082 HP:0001028 Hemangioma OMIM:258315 GPC6 10082 HP:0001363 Craniosynostosis OMIM:258315 GPC6 10082 HP:0000944 Abnormality of the metaphyses OMIM:258315 GPC6 10082 HP:0000028 Cryptorchidism OMIM:258315 GPC6 10082 HP:0100790 Hernia OMIM:258315 GPC6 10082 HP:0000007 Autosomal recessive inheritance OMIM:258315 GPC6 10082 HP:0001629 Ventricular septal defect OMIM:258315 GPC6 10082 HP:0000347 Micrognathia OMIM:258315 GPC6 10082 HP:0008905 Rhizomelia OMIM:258315 GPC6 10082 HP:0000286 Epicanthus OMIM:258315 GPC6 10082 HP:0000431 Wide nasal bridge OMIM:258315 GPC6 10082 HP:0000463 Anteverted nares OMIM:258315 GPC6 10082 HP:0000272 Malar flattening OMIM:258315 GPC6 10082 HP:0001631 Defect in the atrial septum OMIM:258315 GPC6 10082 HP:0005792 Short humerus OMIM:258315 GPC6 10082 HP:0006501 Aplasia/Hypoplasia of the radius OMIM:258315 GPC6 10082 HP:0006376 Limited elbow flexion OMIM:258315 GPC6 10082 HP:0005025 Hypoplastic distal humeri OMIM:258315 GPC6 10082 HP:0006389 Limited knee flexion OMIM:258315 GPC6 10082 HP:0000470 Short neck OMIM:258315 GPC6 10082 HP:0000368 Low-set, posteriorly rotated ears OMIM:258315 GPC6 10082 HP:0002007 Frontal bossing OMIM:258315 GPC6 10082 HP:0004415 Pulmonary artery stenosis OMIM:258315 GPC6 10082 HP:0003063 Abnormality of the humerus OMIM:258315 GPC6 10082 HP:0001537 Umbilical hernia OMIM:258315 GPC6 10082 HP:0012107 Increased fibular diameter OMIM:258315 GPC6 10082 HP:0005280 Depressed nasal bridge OMIM:258315 GPC6 10082 HP:0000581 Blepharophimosis OMIM:258315 GPC6 10082 HP:0008800 Limited hip movement OMIM:258315 GPC6 10082 HP:0003066 Limited knee extension OMIM:258315 GPC6 10082 HP:0005085 Limited knee flexion/extension OMIM:600541 ETV1 2115 HP:0001939 Abnormality of metabolism/homeostasis OMIM:600541 ETV1 2115 HP:0002664 Neoplasm OMIM:600541 ETV1 2115 HP:0000006 Autosomal dominant inheritance OMIM:603855 CFM1 10167 HP:0004401 Meconium ileus OMIM:610878 ROBO2 6092 HP:0000076 Vesicoureteral reflux OMIM:610878 ROBO2 6092 HP:0000089 Renal hypoplasia OMIM:610878 ROBO2 6092 HP:0000006 Autosomal dominant inheritance OMIM:602081 FOXP2 93986 HP:0002546 Incomprehensible speech OMIM:602081 FOXP2 93986 HP:0002134 Abnormality of the basal ganglia OMIM:602081 FOXP2 93986 HP:0000006 Autosomal dominant inheritance OMIM:602081 FOXP2 93986 HP:0000750 Delayed speech and language development OMIM:602081 FOXP2 93986 HP:0000271 Abnormality of the face OMIM:602081 FOXP2 93986 HP:0007301 Oromotor apraxia OMIM:107600 BMS1 9790 HP:0000006 Autosomal dominant inheritance OMIM:107600 BMS1 9790 HP:0004348 Abnormality of bone mineral density OMIM:107600 BMS1 9790 HP:0001362 Skull defect OMIM:107600 BMS1 9790 HP:0200042 Skin ulcer OMIM:107600 BMS1 9790 HP:0010628 Facial palsy OMIM:107600 BMS1 9790 HP:0004471 Aplasia cutis congenita over the scalp vertex OMIM:107600 BMS1 9790 HP:0010301 Spinal dysraphism OMIM:107600 BMS1 9790 HP:0001928 Abnormality of coagulation OMIM:107600 BMS1 9790 HP:0000007 Autosomal recessive inheritance OMIM:610717 PNPLA2 57104 HP:0002380 Fasciculations OMIM:610717 PNPLA2 57104 HP:0002155 Hypertriglyceridemia OMIM:610717 PNPLA2 57104 HP:0001638 Cardiomyopathy OMIM:610717 PNPLA2 57104 HP:0004322 Short stature OMIM:610717 PNPLA2 57104 HP:0001397 Hepatic steatosis OMIM:610717 PNPLA2 57104 HP:0003701 Proximal muscle weakness OMIM:610717 PNPLA2 57104 HP:0003828 Variable expressivity OMIM:610717 PNPLA2 57104 HP:0000407 Sensorineural hearing impairment OMIM:610717 PNPLA2 57104 HP:0002355 Difficulty walking OMIM:610717 PNPLA2 57104 HP:0002240 Hepatomegaly OMIM:610717 PNPLA2 57104 HP:0001252 Muscular hypotonia OMIM:610717 PNPLA2 57104 HP:0002910 Elevated hepatic transaminases OMIM:610717 PNPLA2 57104 HP:0001284 Areflexia OMIM:610717 PNPLA2 57104 HP:0000467 Neck muscle weakness OMIM:610717 PNPLA2 57104 HP:0003198 Myopathy OMIM:610717 PNPLA2 57104 HP:0003391 Gowers sign OMIM:610717 PNPLA2 57104 HP:0009058 Increased muscle lipid content OMIM:610717 PNPLA2 57104 HP:0003388 Easy fatigability OMIM:610717 PNPLA2 57104 HP:0003326 Myalgia OMIM:610717 PNPLA2 57104 HP:0009046 Difficulty running OMIM:610717 PNPLA2 57104 HP:0003546 Exercise intolerance OMIM:610717 PNPLA2 57104 HP:0003677 Slow progression OMIM:610717 PNPLA2 57104 HP:0000819 Diabetes mellitus OMIM:610717 PNPLA2 57104 HP:0000007 Autosomal recessive inheritance OMIM:610717 PNPLA2 57104 HP:0003236 Elevated serum creatine phosphokinase OMIM:610717 PNPLA2 57104 HP:0003581 Adult onset OMIM:611377 NOG 9241 HP:0009835 Aplasia/Hypoplasia of the distal phalanges of the hand OMIM:611377 NOG 9241 HP:0006109 Absent phalangeal crease OMIM:611377 NOG 9241 HP:0000006 Autosomal dominant inheritance OMIM:611377 NOG 9241 HP:0000407 Sensorineural hearing impairment OMIM:611377 NOG 9241 HP:0009623 Proximal placement of thumb OMIM:611377 NOG 9241 HP:0009702 Carpal synostosis OMIM:611377 NOG 9241 HP:0010621 Cutaneous syndactyly of toes OMIM:611377 NOG 9241 HP:0001156 Brachydactyly syndrome OMIM:611377 NOG 9241 HP:0010185 Aplasia/Hypoplasia of the distal phalanges of the toes OMIM:611377 NOG 9241 HP:0009843 Aplasia/Hypoplasia of the middle phalanges of the hand OMIM:611377 NOG 9241 HP:0005048 Synostosis of carpal bones OMIM:611377 NOG 9241 HP:0010554 Cutaneous finger syndactyly OMIM:611377 NOG 9241 HP:0008386 Aplasia/Hypoplasia of the nails OMIM:611377 NOG 9241 HP:0009882 Short distal phalanx of finger OMIM:611377 NOG 9241 HP:0001798 Anonychia OMIM:611377 NOG 9241 HP:0001204 Distal symphalangism (hands) OMIM:611377 NOG 9241 HP:0009773 Symphalangism affecting the phalanges of the hand OMIM:611377 NOG 9241 HP:0000540 Hypermetropia OMIM:611377 NOG 9241 HP:0006101 Finger syndactyly OMIM:611377 NOG 9241 HP:0010194 Aplasia/Hypoplasia of the middle phalanges of the toes OMIM:611377 NOG 9241 HP:0001831 Short toe OMIM:611377 NOG 9241 HP:0006152 Proximal symphalangism (hands) OMIM:611377 NOG 9241 HP:0008368 Tarsal synostosis OMIM:611377 NOG 9241 HP:0010034 Short 1st metacarpal OMIM:607014 IDUA 3425 HP:0000470 Short neck OMIM:607014 IDUA 3425 HP:0000691 Microdontia OMIM:607014 IDUA 3425 HP:0001263 Global developmental delay OMIM:607014 IDUA 3425 HP:0003416 Spinal canal stenosis OMIM:607014 IDUA 3425 HP:0000431 Wide nasal bridge OMIM:607014 IDUA 3425 HP:0001371 Flexion contracture OMIM:607014 IDUA 3425 HP:0004374 Hemiplegia/hemiparesis OMIM:607014 IDUA 3425 HP:0000293 Full cheeks OMIM:607014 IDUA 3425 HP:0002180 Neurodegeneration OMIM:607014 IDUA 3425 HP:0000280 Coarse facial features OMIM:607014 IDUA 3425 HP:0000365 Hearing impairment OMIM:607014 IDUA 3425 HP:0001007 Hirsutism OMIM:607014 IDUA 3425 HP:0001639 Hypertrophic cardiomyopathy OMIM:607014 IDUA 3425 HP:0100729 Large face OMIM:607014 IDUA 3425 HP:0002007 Frontal bossing OMIM:607014 IDUA 3425 HP:0005930 Abnormality of epiphysis morphology OMIM:607014 IDUA 3425 HP:0002869 Flared iliac wings OMIM:607014 IDUA 3425 HP:0007256 Abnormal pyramidal signs OMIM:607014 IDUA 3425 HP:0001677 Coronary artery disease OMIM:607014 IDUA 3425 HP:0000463 Anteverted nares OMIM:607014 IDUA 3425 HP:0005280 Depressed nasal bridge OMIM:607014 IDUA 3425 HP:0002240 Hepatomegaly OMIM:607014 IDUA 3425 HP:0000488 Retinopathy OMIM:607014 IDUA 3425 HP:0000007 Autosomal recessive inheritance OMIM:607014 IDUA 3425 HP:0002205 Recurrent respiratory infections OMIM:607014 IDUA 3425 HP:0001537 Umbilical hernia OMIM:607014 IDUA 3425 HP:0002652 Skeletal dysplasia OMIM:607014 IDUA 3425 HP:0000256 Macrocephaly OMIM:607014 IDUA 3425 HP:0004586 Biconcave vertebral bodies OMIM:607014 IDUA 3425 HP:0000822 Hypertension OMIM:607014 IDUA 3425 HP:0001000 Abnormality of skin pigmentation OMIM:607014 IDUA 3425 HP:0002808 Kyphosis OMIM:607014 IDUA 3425 HP:0001249 Intellectual disability OMIM:607014 IDUA 3425 HP:0004322 Short stature OMIM:607014 IDUA 3425 HP:0002673 Coxa valga OMIM:607014 IDUA 3425 HP:0001638 Cardiomyopathy OMIM:607014 IDUA 3425 HP:0001706 Endocardial fibroelastosis OMIM:607014 IDUA 3425 HP:0001659 Aortic regurgitation OMIM:607014 IDUA 3425 HP:0000772 Abnormality of the ribs OMIM:607014 IDUA 3425 HP:0100543 Cognitive impairment OMIM:607014 IDUA 3425 HP:0000501 Glaucoma OMIM:607014 IDUA 3425 HP:0009811 Abnormality of the elbow OMIM:607014 IDUA 3425 HP:0001167 Abnormality of finger OMIM:607014 IDUA 3425 HP:0004490 Calvarial hyperostosis OMIM:607014 IDUA 3425 HP:0002680 J-shaped sella turcica OMIM:607014 IDUA 3425 HP:0001744 Splenomegaly OMIM:607014 IDUA 3425 HP:0000943 Dysostosis multiplex OMIM:607014 IDUA 3425 HP:0001252 Muscular hypotonia OMIM:607014 IDUA 3425 HP:0000157 Abnormality of the tongue OMIM:607014 IDUA 3425 HP:0011400 Abnormal CNS myelination OMIM:607014 IDUA 3425 HP:0002024 Malabsorption OMIM:607014 IDUA 3425 HP:0012471 Thick vermilion border OMIM:607014 IDUA 3425 HP:0008802 Hypoplasia of the femoral head OMIM:607014 IDUA 3425 HP:0002360 Sleep disturbance OMIM:607014 IDUA 3425 HP:0100021 Cerebral palsy OMIM:607014 IDUA 3425 HP:0008155 Mucopolysacchariduria OMIM:607014 IDUA 3425 HP:0002650 Scoliosis OMIM:607014 IDUA 3425 HP:0000212 Gingival overgrowth OMIM:607014 IDUA 3425 HP:0007759 Opacification of the corneal stroma OMIM:607014 IDUA 3425 HP:0003320 C1-C2 subluxation OMIM:607014 IDUA 3425 HP:0000246 Sinusitis OMIM:607014 IDUA 3425 HP:0000238 Hydrocephalus OMIM:607014 IDUA 3425 HP:0005019 Diaphyseal thickening OMIM:607014 IDUA 3425 HP:0000023 Inguinal hernia OMIM:607014 IDUA 3425 HP:0000546 Retinal degeneration OMIM:607014 IDUA 3425 HP:0000998 Hypertrichosis OMIM:607014 IDUA 3425 HP:0003311 Hypoplasia of the odontoid process OMIM:607014 IDUA 3425 HP:0001433 Hepatosplenomegaly OMIM:607014 IDUA 3425 HP:0000574 Thick eyebrow OMIM:607014 IDUA 3425 HP:0000894 Short clavicles OMIM:607014 IDUA 3425 HP:0001653 Mitral regurgitation OMIM:607014 IDUA 3425 HP:0000232 Everted lower lip vermilion OMIM:607014 IDUA 3425 HP:0000179 Thick lower lip vermilion OMIM:607014 IDUA 3425 HP:0000455 Broad nasal tip OMIM:607014 IDUA 3425 HP:0100790 Hernia OMIM:607014 IDUA 3425 HP:0002344 Progressive neurologic deterioration OMIM:607014 IDUA 3425 HP:0000762 Decreased nerve conduction velocity OMIM:607014 IDUA 3425 HP:0001387 Joint stiffness OMIM:607014 IDUA 3425 HP:0100765 Abnormality of the tonsils OMIM:607014 IDUA 3425 HP:0000268 Dolichocephaly OMIM:173600 FLCN 201163 HP:0003829 Incomplete penetrance OMIM:173600 FLCN 201163 HP:0002103 Abnormality of the pleura OMIM:173600 FLCN 201163 HP:0000006 Autosomal dominant inheritance OMIM:173600 FLCN 201163 HP:0002108 Spontaneous pneumothorax ORPHANET:93271 WDR35 57539 HP:0100627 Displacement of the external urethral meatus ORPHANET:93271 WDR35 57539 HP:0000772 Abnormality of the ribs ORPHANET:93271 WDR35 57539 HP:0002007 Frontal bossing ORPHANET:93271 WDR35 57539 HP:0002093 Respiratory insufficiency ORPHANET:93271 WDR35 57539 HP:0000944 Abnormality of the metaphyses ORPHANET:93271 WDR35 57539 HP:0000062 Ambiguous genitalia ORPHANET:93271 WDR35 57539 HP:0002612 Congenital hepatic fibrosis ORPHANET:93271 WDR35 57539 HP:0005280 Depressed nasal bridge ORPHANET:93271 WDR35 57539 HP:0001789 Hydrops fetalis ORPHANET:93271 WDR35 57539 HP:0010306 Short thorax ORPHANET:93271 WDR35 57539 HP:0002119 Ventriculomegaly ORPHANET:93271 WDR35 57539 HP:0001831 Short toe ORPHANET:93271 WDR35 57539 HP:0009826 Limb undergrowth ORPHANET:93271 WDR35 57539 HP:0001177 Preaxial hand polydactyly ORPHANET:93271 WDR35 57539 HP:0004397 Ectopic anus ORPHANET:93271 WDR35 57539 HP:0000774 Narrow chest ORPHANET:93271 WDR35 57539 HP:0000113 Polycystic kidney dysplasia ORPHANET:93271 WDR35 57539 HP:0001162 Postaxial hand polydactyly ORPHANET:93271 WDR35 57539 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:93271 WDR35 57539 HP:0000343 Long philtrum ORPHANET:93271 WDR35 57539 HP:0002564 Malformation of the heart and great vessels ORPHANET:93271 WDR35 57539 HP:0000518 Cataract ORPHANET:93271 WDR35 57539 HP:0002644 Abnormality of pelvic girdle bone morphology ORPHANET:93271 WDR35 57539 HP:0002652 Skeletal dysplasia ORPHANET:93271 WDR35 57539 HP:0001539 Omphalocele ORPHANET:93271 WDR35 57539 HP:0001156 Brachydactyly syndrome ORPHANET:93271 WDR35 57539 HP:0000286 Epicanthus ORPHANET:93271 WDR35 57539 HP:0000256 Macrocephaly ORPHANET:93271 WDR35 57539 HP:0000161 Median cleft lip ORPHANET:93271 WDR35 57539 HP:0000347 Micrognathia ORPHANET:93271 WDR35 57539 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:93271 WDR35 57539 HP:0100629 Midline facial cleft ORPHANET:93271 DYNC2H1 79659 HP:0100627 Displacement of the external urethral meatus ORPHANET:93271 DYNC2H1 79659 HP:0000772 Abnormality of the ribs ORPHANET:93271 DYNC2H1 79659 HP:0002007 Frontal bossing ORPHANET:93271 DYNC2H1 79659 HP:0002093 Respiratory insufficiency ORPHANET:93271 DYNC2H1 79659 HP:0000944 Abnormality of the metaphyses ORPHANET:93271 DYNC2H1 79659 HP:0000062 Ambiguous genitalia ORPHANET:93271 DYNC2H1 79659 HP:0002612 Congenital hepatic fibrosis ORPHANET:93271 DYNC2H1 79659 HP:0005280 Depressed nasal bridge ORPHANET:93271 DYNC2H1 79659 HP:0001789 Hydrops fetalis ORPHANET:93271 DYNC2H1 79659 HP:0010306 Short thorax ORPHANET:93271 DYNC2H1 79659 HP:0002119 Ventriculomegaly ORPHANET:93271 DYNC2H1 79659 HP:0001831 Short toe ORPHANET:93271 DYNC2H1 79659 HP:0009826 Limb undergrowth ORPHANET:93271 DYNC2H1 79659 HP:0001177 Preaxial hand polydactyly ORPHANET:93271 DYNC2H1 79659 HP:0004397 Ectopic anus ORPHANET:93271 DYNC2H1 79659 HP:0000774 Narrow chest ORPHANET:93271 DYNC2H1 79659 HP:0000113 Polycystic kidney dysplasia ORPHANET:93271 DYNC2H1 79659 HP:0001162 Postaxial hand polydactyly ORPHANET:93271 DYNC2H1 79659 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:93271 DYNC2H1 79659 HP:0000343 Long philtrum ORPHANET:93271 DYNC2H1 79659 HP:0002564 Malformation of the heart and great vessels ORPHANET:93271 DYNC2H1 79659 HP:0000518 Cataract ORPHANET:93271 DYNC2H1 79659 HP:0002644 Abnormality of pelvic girdle bone morphology ORPHANET:93271 DYNC2H1 79659 HP:0002652 Skeletal dysplasia ORPHANET:93271 DYNC2H1 79659 HP:0001539 Omphalocele ORPHANET:93271 DYNC2H1 79659 HP:0001156 Brachydactyly syndrome ORPHANET:93271 DYNC2H1 79659 HP:0000286 Epicanthus ORPHANET:93271 DYNC2H1 79659 HP:0000256 Macrocephaly ORPHANET:93271 DYNC2H1 79659 HP:0000161 Median cleft lip ORPHANET:93271 DYNC2H1 79659 HP:0000347 Micrognathia ORPHANET:93271 DYNC2H1 79659 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:93271 DYNC2H1 79659 HP:0100629 Midline facial cleft ORPHANET:93271 IFT80 57560 HP:0100627 Displacement of the external urethral meatus ORPHANET:93271 IFT80 57560 HP:0000772 Abnormality of the ribs ORPHANET:93271 IFT80 57560 HP:0002007 Frontal bossing ORPHANET:93271 IFT80 57560 HP:0002093 Respiratory insufficiency ORPHANET:93271 IFT80 57560 HP:0000944 Abnormality of the metaphyses ORPHANET:93271 IFT80 57560 HP:0000062 Ambiguous genitalia ORPHANET:93271 IFT80 57560 HP:0002612 Congenital hepatic fibrosis ORPHANET:93271 IFT80 57560 HP:0005280 Depressed nasal bridge ORPHANET:93271 IFT80 57560 HP:0001789 Hydrops fetalis ORPHANET:93271 IFT80 57560 HP:0010306 Short thorax ORPHANET:93271 IFT80 57560 HP:0002119 Ventriculomegaly ORPHANET:93271 IFT80 57560 HP:0001831 Short toe ORPHANET:93271 IFT80 57560 HP:0009826 Limb undergrowth ORPHANET:93271 IFT80 57560 HP:0001177 Preaxial hand polydactyly ORPHANET:93271 IFT80 57560 HP:0004397 Ectopic anus ORPHANET:93271 IFT80 57560 HP:0000774 Narrow chest ORPHANET:93271 IFT80 57560 HP:0000113 Polycystic kidney dysplasia ORPHANET:93271 IFT80 57560 HP:0001162 Postaxial hand polydactyly ORPHANET:93271 IFT80 57560 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:93271 IFT80 57560 HP:0000343 Long philtrum ORPHANET:93271 IFT80 57560 HP:0002564 Malformation of the heart and great vessels ORPHANET:93271 IFT80 57560 HP:0000518 Cataract ORPHANET:93271 IFT80 57560 HP:0002644 Abnormality of pelvic girdle bone morphology ORPHANET:93271 IFT80 57560 HP:0002652 Skeletal dysplasia ORPHANET:93271 IFT80 57560 HP:0001539 Omphalocele ORPHANET:93271 IFT80 57560 HP:0001156 Brachydactyly syndrome ORPHANET:93271 IFT80 57560 HP:0000286 Epicanthus ORPHANET:93271 IFT80 57560 HP:0000256 Macrocephaly ORPHANET:93271 IFT80 57560 HP:0000161 Median cleft lip ORPHANET:93271 IFT80 57560 HP:0000347 Micrognathia ORPHANET:93271 IFT80 57560 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:93271 IFT80 57560 HP:0100629 Midline facial cleft ORPHANET:93271 WDR34 89891 HP:0100627 Displacement of the external urethral meatus ORPHANET:93271 WDR34 89891 HP:0000772 Abnormality of the ribs ORPHANET:93271 WDR34 89891 HP:0002007 Frontal bossing ORPHANET:93271 WDR34 89891 HP:0002093 Respiratory insufficiency ORPHANET:93271 WDR34 89891 HP:0000944 Abnormality of the metaphyses ORPHANET:93271 WDR34 89891 HP:0000062 Ambiguous genitalia ORPHANET:93271 WDR34 89891 HP:0002612 Congenital hepatic fibrosis ORPHANET:93271 WDR34 89891 HP:0005280 Depressed nasal bridge ORPHANET:93271 WDR34 89891 HP:0001789 Hydrops fetalis ORPHANET:93271 WDR34 89891 HP:0010306 Short thorax ORPHANET:93271 WDR34 89891 HP:0002119 Ventriculomegaly ORPHANET:93271 WDR34 89891 HP:0001831 Short toe ORPHANET:93271 WDR34 89891 HP:0009826 Limb undergrowth ORPHANET:93271 WDR34 89891 HP:0001177 Preaxial hand polydactyly ORPHANET:93271 WDR34 89891 HP:0004397 Ectopic anus ORPHANET:93271 WDR34 89891 HP:0000774 Narrow chest ORPHANET:93271 WDR34 89891 HP:0000113 Polycystic kidney dysplasia ORPHANET:93271 WDR34 89891 HP:0001162 Postaxial hand polydactyly ORPHANET:93271 WDR34 89891 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:93271 WDR34 89891 HP:0000343 Long philtrum ORPHANET:93271 WDR34 89891 HP:0002564 Malformation of the heart and great vessels ORPHANET:93271 WDR34 89891 HP:0000518 Cataract ORPHANET:93271 WDR34 89891 HP:0002644 Abnormality of pelvic girdle bone morphology ORPHANET:93271 WDR34 89891 HP:0002652 Skeletal dysplasia ORPHANET:93271 WDR34 89891 HP:0001539 Omphalocele ORPHANET:93271 WDR34 89891 HP:0001156 Brachydactyly syndrome ORPHANET:93271 WDR34 89891 HP:0000286 Epicanthus ORPHANET:93271 WDR34 89891 HP:0000256 Macrocephaly ORPHANET:93271 WDR34 89891 HP:0000161 Median cleft lip ORPHANET:93271 WDR34 89891 HP:0000347 Micrognathia ORPHANET:93271 WDR34 89891 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:93271 WDR34 89891 HP:0100629 Midline facial cleft ORPHANET:93271 WDR60 55112 HP:0100627 Displacement of the external urethral meatus ORPHANET:93271 WDR60 55112 HP:0000772 Abnormality of the ribs ORPHANET:93271 WDR60 55112 HP:0002007 Frontal bossing ORPHANET:93271 WDR60 55112 HP:0002093 Respiratory insufficiency ORPHANET:93271 WDR60 55112 HP:0000944 Abnormality of the metaphyses ORPHANET:93271 WDR60 55112 HP:0000062 Ambiguous genitalia ORPHANET:93271 WDR60 55112 HP:0002612 Congenital hepatic fibrosis ORPHANET:93271 WDR60 55112 HP:0005280 Depressed nasal bridge ORPHANET:93271 WDR60 55112 HP:0001789 Hydrops fetalis ORPHANET:93271 WDR60 55112 HP:0010306 Short thorax ORPHANET:93271 WDR60 55112 HP:0002119 Ventriculomegaly ORPHANET:93271 WDR60 55112 HP:0001831 Short toe ORPHANET:93271 WDR60 55112 HP:0009826 Limb undergrowth ORPHANET:93271 WDR60 55112 HP:0001177 Preaxial hand polydactyly ORPHANET:93271 WDR60 55112 HP:0004397 Ectopic anus ORPHANET:93271 WDR60 55112 HP:0000774 Narrow chest ORPHANET:93271 WDR60 55112 HP:0000113 Polycystic kidney dysplasia ORPHANET:93271 WDR60 55112 HP:0001162 Postaxial hand polydactyly ORPHANET:93271 WDR60 55112 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:93271 WDR60 55112 HP:0000343 Long philtrum ORPHANET:93271 WDR60 55112 HP:0002564 Malformation of the heart and great vessels ORPHANET:93271 WDR60 55112 HP:0000518 Cataract ORPHANET:93271 WDR60 55112 HP:0002644 Abnormality of pelvic girdle bone morphology ORPHANET:93271 WDR60 55112 HP:0002652 Skeletal dysplasia ORPHANET:93271 WDR60 55112 HP:0001539 Omphalocele ORPHANET:93271 WDR60 55112 HP:0001156 Brachydactyly syndrome ORPHANET:93271 WDR60 55112 HP:0000286 Epicanthus ORPHANET:93271 WDR60 55112 HP:0000256 Macrocephaly ORPHANET:93271 WDR60 55112 HP:0000161 Median cleft lip ORPHANET:93271 WDR60 55112 HP:0000347 Micrognathia ORPHANET:93271 WDR60 55112 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:93271 WDR60 55112 HP:0100629 Midline facial cleft OMIM:178500 SFTPA2 729238 HP:0002090 Pneumonia OMIM:178500 SFTPA2 729238 HP:0100759 Clubbing of fingers OMIM:178500 SFTPA2 729238 HP:0002206 Pulmonary fibrosis OMIM:178500 SFTPA2 729238 HP:0000006 Autosomal dominant inheritance OMIM:178500 SFTPA2 729238 HP:0002875 Exertional dyspnea OMIM:178500 SFTPA2 729238 HP:0006519 Alveolar cell carcinoma OMIM:178500 SFTPA2 729238 HP:0002092 Pulmonary hypertension OMIM:178500 SFTPA2 729238 HP:0010702 Hypergammaglobulinemia OMIM:178500 SFTPA2 729238 HP:0001394 Cirrhosis OMIM:614592 FGFR2 2263 HP:0001156 Brachydactyly syndrome OMIM:614592 FGFR2 2263 HP:0000316 Hypertelorism OMIM:614592 FGFR2 2263 HP:0000369 Low-set ears OMIM:614592 FGFR2 2263 HP:0000057 Clitoromegaly OMIM:614592 FGFR2 2263 HP:0000212 Gingival overgrowth OMIM:614592 FGFR2 2263 HP:0004440 Coronal craniosynostosis OMIM:614592 FGFR2 2263 HP:0000006 Autosomal dominant inheritance OMIM:614592 FGFR2 2263 HP:0000894 Short clavicles OMIM:614592 FGFR2 2263 HP:0001433 Hepatosplenomegaly OMIM:614592 FGFR2 2263 HP:0000272 Malar flattening OMIM:614592 FGFR2 2263 HP:0000347 Micrognathia OMIM:614592 FGFR2 2263 HP:0001591 Bell-shaped thorax OMIM:614592 FGFR2 2263 HP:0011800 Midface retrusion OMIM:614592 FGFR2 2263 HP:0001007 Hirsutism OMIM:305450 MED12 9968 HP:0008070 Sparse hair OMIM:305450 MED12 9968 HP:0000494 Downslanted palpebral fissures OMIM:305450 MED12 9968 HP:0030084 Clinodactyly OMIM:305450 MED12 9968 HP:0002282 Heterotopia OMIM:305450 MED12 9968 HP:0001419 X-linked recessive inheritance OMIM:305450 MED12 9968 HP:0002021 Pyloric stenosis OMIM:305450 MED12 9968 HP:0000175 Cleft palate OMIM:305450 MED12 9968 HP:0011304 Broad thumb OMIM:305450 MED12 9968 HP:0002938 Lumbar hyperlordosis OMIM:305450 MED12 9968 HP:0000343 Long philtrum OMIM:305450 MED12 9968 HP:0002025 Anal stenosis OMIM:305450 MED12 9968 HP:0002213 Fine hair OMIM:305450 MED12 9968 HP:0012385 Camptodactyly OMIM:305450 MED12 9968 HP:0000960 Sacral dimple OMIM:305450 MED12 9968 HP:0001627 Abnormality of cardiac morphology OMIM:305450 MED12 9968 HP:0000486 Strabismus OMIM:305450 MED12 9968 HP:0009473 Joint contracture of the hand OMIM:305450 MED12 9968 HP:0001545 Anteriorly placed anus OMIM:305450 MED12 9968 HP:0002007 Frontal bossing OMIM:305450 MED12 9968 HP:0001263 Global developmental delay OMIM:305450 MED12 9968 HP:0001171 Split hand OMIM:305450 MED12 9968 HP:0001159 Syndactyly OMIM:305450 MED12 9968 HP:0002828 Multiple joint contractures OMIM:305450 MED12 9968 HP:0009466 Radial deviation of finger OMIM:305450 MED12 9968 HP:0000448 Prominent nose OMIM:305450 MED12 9968 HP:0000678 Dental crowding OMIM:305450 MED12 9968 HP:0010055 Broad hallux OMIM:305450 MED12 9968 HP:0010609 Skin tags OMIM:305450 MED12 9968 HP:0000347 Micrognathia OMIM:305450 MED12 9968 HP:0000189 Narrow palate OMIM:305450 MED12 9968 HP:0001249 Intellectual disability OMIM:305450 MED12 9968 HP:0001357 Plagiocephaly OMIM:305450 MED12 9968 HP:0011266 Microtia, first degree OMIM:305450 MED12 9968 HP:0001476 Delayed closure of the anterior fontanelle OMIM:305450 MED12 9968 HP:0000260 Wide anterior fontanel OMIM:305450 MED12 9968 HP:0001338 Partial agenesis of the corpus callosum OMIM:305450 MED12 9968 HP:0000179 Thick lower lip vermilion OMIM:305450 MED12 9968 HP:0001620 High pitched voice OMIM:305450 MED12 9968 HP:0009762 Facial wrinkling OMIM:305450 MED12 9968 HP:0001212 Prominent fingertip pads OMIM:305450 MED12 9968 HP:0000238 Hydrocephalus OMIM:305450 MED12 9968 HP:0001270 Motor delay OMIM:305450 MED12 9968 HP:0000047 Hypospadias OMIM:305450 MED12 9968 HP:0011220 Prominent forehead OMIM:305450 MED12 9968 HP:0001250 Seizures OMIM:305450 MED12 9968 HP:0000470 Short neck OMIM:305450 MED12 9968 HP:0001537 Umbilical hernia OMIM:305450 MED12 9968 HP:0007018 Attention deficit hyperactivity disorder OMIM:305450 MED12 9968 HP:0000023 Inguinal hernia OMIM:305450 MED12 9968 HP:0000453 Choanal atresia OMIM:305450 MED12 9968 HP:0000407 Sensorineural hearing impairment OMIM:305450 MED12 9968 HP:0001319 Neonatal hypotonia OMIM:305450 MED12 9968 HP:0002236 Frontal upsweep of hair OMIM:305450 MED12 9968 HP:0002019 Constipation OMIM:305450 MED12 9968 HP:0004322 Short stature OMIM:305450 MED12 9968 HP:0001150 Choroidal sclerosis OMIM:305450 MED12 9968 HP:0005490 Postnatal macrocephaly OMIM:305450 MED12 9968 HP:0005833 Joint swelling onset late infancy OMIM:305450 MED12 9968 HP:0000204 Cleft upper lip OMIM:305450 MED12 9968 HP:0000286 Epicanthus OMIM:305450 MED12 9968 HP:0000316 Hypertelorism OMIM:305450 MED12 9968 HP:0000766 Abnormality of the sternum OMIM:305450 MED12 9968 HP:0000954 Single transverse palmar crease OMIM:305450 MED12 9968 HP:0000154 Wide mouth OMIM:305450 MED12 9968 HP:0000028 Cryptorchidism OMIM:305450 MED12 9968 HP:0002566 Intestinal malrotation OMIM:305450 MED12 9968 HP:0001739 Abnormality of the nasopharynx OMIM:305450 MED12 9968 HP:0002023 Anal atresia OMIM:614867 PEX2 5828 HP:0000407 Sensorineural hearing impairment OMIM:614867 PEX2 5828 HP:0000556 Retinal dystrophy OMIM:614867 PEX2 5828 HP:0001410 Decreased liver function OMIM:614867 PEX2 5828 HP:0000007 Autosomal recessive inheritance OMIM:614867 PEX2 5828 HP:0001272 Cerebellar atrophy OMIM:614867 PEX2 5828 HP:0000657 Oculomotor apraxia OMIM:614867 PEX2 5828 HP:0001761 Pes cavus OMIM:614867 PEX2 5828 HP:0000510 Retinitis pigmentosa OMIM:614867 PEX2 5828 HP:0000505 Visual impairment OMIM:614867 PEX2 5828 HP:0009046 Difficulty running OMIM:614867 PEX2 5828 HP:0002317 Unsteady gait OMIM:614867 PEX2 5828 HP:0001260 Dysarthria OMIM:614867 PEX2 5828 HP:0008167 Very long chain fatty acid accumulation OMIM:614867 PEX2 5828 HP:0001319 Neonatal hypotonia OMIM:614867 PEX2 5828 HP:0000639 Nystagmus OMIM:614867 PEX2 5828 HP:0001263 Global developmental delay OMIM:614867 PEX2 5828 HP:0001337 Tremor OMIM:614867 PEX2 5828 HP:0001310 Dysmetria OMIM:614867 PEX2 5828 HP:0000514 Slow saccadic eye movements OMIM:614867 PEX2 5828 HP:0001265 Hyporeflexia OMIM:614867 PEX2 5828 HP:0010571 Elevated levels of phytanic acid OMIM:103580 GNAS 2778 HP:0000821 Hypothyroidism OMIM:103580 GNAS 2778 HP:0000518 Cataract OMIM:103580 GNAS 2778 HP:0000684 Delayed eruption of teeth OMIM:103580 GNAS 2778 HP:0001156 Brachydactyly syndrome OMIM:103580 GNAS 2778 HP:0006297 Hypoplasia of dental enamel OMIM:103580 GNAS 2778 HP:0003165 Elevated circulating parathyroid hormone (PTH) level OMIM:103580 GNAS 2778 HP:0001831 Short toe OMIM:103580 GNAS 2778 HP:0003812 Phenotypic variability OMIM:103580 GNAS 2778 HP:0100543 Cognitive impairment OMIM:103580 GNAS 2778 HP:0005280 Depressed nasal bridge OMIM:103580 GNAS 2778 HP:0000311 Round face OMIM:103580 GNAS 2778 HP:0010049 Short metacarpal OMIM:103580 GNAS 2778 HP:0000852 Pseudohypoparathyroidism OMIM:103580 GNAS 2778 HP:0009381 Short finger OMIM:103580 GNAS 2778 HP:0000293 Full cheeks OMIM:103580 GNAS 2778 HP:0000939 Osteoporosis OMIM:103580 GNAS 2778 HP:0003456 Low urinary cyclic AMP response to PTH administration OMIM:103580 GNAS 2778 HP:0000639 Nystagmus OMIM:103580 GNAS 2778 HP:0002684 Thickened calvaria OMIM:103580 GNAS 2778 HP:0001250 Seizures OMIM:103580 GNAS 2778 HP:0003472 Hypocalcemic tetany OMIM:103580 GNAS 2778 HP:0001513 Obesity OMIM:103580 GNAS 2778 HP:0000135 Hypogonadism OMIM:103580 GNAS 2778 HP:0010743 Short metatarsal OMIM:103580 GNAS 2778 HP:0000470 Short neck OMIM:103580 GNAS 2778 HP:0006960 Choroid plexus calcification OMIM:103580 GNAS 2778 HP:0000006 Autosomal dominant inheritance OMIM:103580 GNAS 2778 HP:0002135 Basal ganglia calcification OMIM:103580 GNAS 2778 HP:0004322 Short stature OMIM:103580 GNAS 2778 HP:0002905 Hyperphosphatemia OMIM:103580 GNAS 2778 HP:0001249 Intellectual disability OMIM:233690 CYBA 1535 HP:0002742 Recurrent Klebsiella infections OMIM:233690 CYBA 1535 HP:0005406 Recurrent bacterial skin infections OMIM:233690 CYBA 1535 HP:0002740 Recurrent E. coli infections OMIM:233690 CYBA 1535 HP:0002716 Lymphadenopathy OMIM:233690 CYBA 1535 HP:0003203 Negative nitroblue tetrazolium (NBT) reduction test OMIM:233690 CYBA 1535 HP:0001400 Hepatic abscesses due to immunodeficiency OMIM:233690 CYBA 1535 HP:0002840 Lymphadenitis OMIM:233690 CYBA 1535 HP:0003553 Cellulitis due to immunodeficiency OMIM:233690 CYBA 1535 HP:0002723 Absence of bactericidal oxidative 'respiratory burst' in phagocytes OMIM:233690 CYBA 1535 HP:0007417 Discoid lupus erythematosus OMIM:233690 CYBA 1535 HP:0003621 Juvenile onset OMIM:233690 CYBA 1535 HP:0002955 Granulomatosis OMIM:233690 CYBA 1535 HP:0002741 Recurrent Serratia marcescens infections OMIM:233690 CYBA 1535 HP:0002726 Recurrent Staphylococcus aureus infections OMIM:233690 CYBA 1535 HP:0003514 Deficiency or absence of cytochrome b(-245) OMIM:233690 CYBA 1535 HP:0000007 Autosomal recessive inheritance OMIM:233690 CYBA 1535 HP:0002842 Recurrent Burkholderia cepacia infections OMIM:233690 CYBA 1535 HP:0000976 Eczematoid dermatitis OMIM:233690 CYBA 1535 HP:0005224 Rectal abscess OMIM:233690 CYBA 1535 HP:0002755 Osteomyelitis due to immunodeficiency OMIM:233690 CYBA 1535 HP:0006532 Recurrent pneumonia OMIM:233690 CYBA 1535 HP:0003206 Decreased activity of NADPH oxidase OMIM:233690 CYBA 1535 HP:0001744 Splenomegaly OMIM:233690 CYBA 1535 HP:0002240 Hepatomegaly OMIM:233690 CYBA 1535 HP:0002724 Recurrent Aspergillus infections OMIM:616299 LIPT1 51601 HP:0003128 Lactic acidosis OMIM:616299 LIPT1 51601 HP:0001332 Dystonia OMIM:616299 LIPT1 51601 HP:0002910 Elevated hepatic transaminases OMIM:616299 LIPT1 51601 HP:0001410 Decreased liver function OMIM:616299 LIPT1 51601 HP:0002151 Increased serum lactate OMIM:614807 CCDC78 124093 HP:0003326 Myalgia OMIM:614807 CCDC78 124093 HP:0001252 Muscular hypotonia OMIM:614807 CCDC78 124093 HP:0100543 Cognitive impairment OMIM:614807 CCDC78 124093 HP:0000006 Autosomal dominant inheritance OMIM:615663 TBC1D20 128637 HP:0000508 Ptosis OMIM:615663 TBC1D20 128637 HP:0001250 Seizures OMIM:615663 TBC1D20 128637 HP:0000648 Optic atrophy OMIM:615663 TBC1D20 128637 HP:0002510 Spastic tetraplegia OMIM:615663 TBC1D20 128637 HP:0010864 Intellectual disability, severe OMIM:615663 TBC1D20 128637 HP:0000046 Scrotal hypoplasia OMIM:615663 TBC1D20 128637 HP:0008734 Decreased testicular size OMIM:615663 TBC1D20 128637 HP:0002120 Cerebral cortical atrophy OMIM:615663 TBC1D20 128637 HP:0000160 Narrow mouth OMIM:615663 TBC1D20 128637 HP:0000431 Wide nasal bridge OMIM:615663 TBC1D20 128637 HP:0001272 Cerebellar atrophy OMIM:615663 TBC1D20 128637 HP:0001371 Flexion contracture OMIM:615663 TBC1D20 128637 HP:0000007 Autosomal recessive inheritance OMIM:615663 TBC1D20 128637 HP:0000054 Micropenis OMIM:615663 TBC1D20 128637 HP:0008850 Severe postnatal growth retardation OMIM:615663 TBC1D20 128637 HP:0000501 Glaucoma OMIM:615663 TBC1D20 128637 HP:0000294 Low anterior hairline OMIM:615663 TBC1D20 128637 HP:0003199 Decreased muscle mass OMIM:615663 TBC1D20 128637 HP:0000519 Congenital cataract OMIM:615663 TBC1D20 128637 HP:0000028 Cryptorchidism OMIM:615663 TBC1D20 128637 HP:0001007 Hirsutism OMIM:615663 TBC1D20 128637 HP:0000482 Microcornea OMIM:615663 TBC1D20 128637 HP:0007095 Frontoparietal polymicrogyria OMIM:615663 TBC1D20 128637 HP:0000248 Brachycephaly OMIM:615663 TBC1D20 128637 HP:0000568 Microphthalmos OMIM:615663 TBC1D20 128637 HP:0005484 Postnatal microcephaly OMIM:615663 TBC1D20 128637 HP:0002079 Hypoplasia of the corpus callosum OMIM:615663 TBC1D20 128637 HP:0000490 Deeply set eye ORPHANET:2309 KRT6B 3854 HP:0001601 Laryngomalacia ORPHANET:2309 KRT6B 3854 HP:0008069 Neoplasm of the skin ORPHANET:2309 KRT6B 3854 HP:0000982 Palmoplantar keratoderma ORPHANET:2309 KRT6B 3854 HP:0001131 Corneal dystrophy ORPHANET:2309 KRT6B 3854 HP:0001798 Anonychia ORPHANET:2309 KRT6B 3854 HP:0001596 Alopecia ORPHANET:2309 KRT6B 3854 HP:0000518 Cataract ORPHANET:2309 KRT6B 3854 HP:0100543 Cognitive impairment ORPHANET:2309 KRT6B 3854 HP:0001231 Abnormality of the fingernails ORPHANET:2309 KRT6B 3854 HP:0002240 Hepatomegaly ORPHANET:2309 KRT6B 3854 HP:0008066 Abnormal blistering of the skin ORPHANET:2309 KRT6B 3854 HP:0000670 Carious teeth ORPHANET:2309 KRT6B 3854 HP:0000975 Hyperhidrosis ORPHANET:2309 KRT6B 3854 HP:0100643 Abnormality of nail color ORPHANET:2309 KRT6B 3854 HP:0008388 Abnormality of the toenails ORPHANET:2309 KRT6B 3854 HP:0008064 Ichthyosis ORPHANET:2309 KRT6B 3854 HP:0002093 Respiratory insufficiency ORPHANET:2309 KRT6A 3853 HP:0001601 Laryngomalacia ORPHANET:2309 KRT6A 3853 HP:0008069 Neoplasm of the skin ORPHANET:2309 KRT6A 3853 HP:0000982 Palmoplantar keratoderma ORPHANET:2309 KRT6A 3853 HP:0001131 Corneal dystrophy ORPHANET:2309 KRT6A 3853 HP:0001798 Anonychia ORPHANET:2309 KRT6A 3853 HP:0001596 Alopecia ORPHANET:2309 KRT6A 3853 HP:0000518 Cataract ORPHANET:2309 KRT6A 3853 HP:0100543 Cognitive impairment ORPHANET:2309 KRT6A 3853 HP:0001231 Abnormality of the fingernails ORPHANET:2309 KRT6A 3853 HP:0002240 Hepatomegaly ORPHANET:2309 KRT6A 3853 HP:0008066 Abnormal blistering of the skin ORPHANET:2309 KRT6A 3853 HP:0000670 Carious teeth ORPHANET:2309 KRT6A 3853 HP:0000975 Hyperhidrosis ORPHANET:2309 KRT6A 3853 HP:0100643 Abnormality of nail color ORPHANET:2309 KRT6A 3853 HP:0008388 Abnormality of the toenails ORPHANET:2309 KRT6A 3853 HP:0008064 Ichthyosis ORPHANET:2309 KRT6A 3853 HP:0002093 Respiratory insufficiency ORPHANET:2309 KRT16 3868 HP:0001601 Laryngomalacia ORPHANET:2309 KRT16 3868 HP:0008069 Neoplasm of the skin ORPHANET:2309 KRT16 3868 HP:0000982 Palmoplantar keratoderma ORPHANET:2309 KRT16 3868 HP:0001131 Corneal dystrophy ORPHANET:2309 KRT16 3868 HP:0001798 Anonychia ORPHANET:2309 KRT16 3868 HP:0001596 Alopecia ORPHANET:2309 KRT16 3868 HP:0000518 Cataract ORPHANET:2309 KRT16 3868 HP:0100543 Cognitive impairment ORPHANET:2309 KRT16 3868 HP:0001231 Abnormality of the fingernails ORPHANET:2309 KRT16 3868 HP:0002240 Hepatomegaly ORPHANET:2309 KRT16 3868 HP:0008066 Abnormal blistering of the skin ORPHANET:2309 KRT16 3868 HP:0000670 Carious teeth ORPHANET:2309 KRT16 3868 HP:0000975 Hyperhidrosis ORPHANET:2309 KRT16 3868 HP:0100643 Abnormality of nail color ORPHANET:2309 KRT16 3868 HP:0008388 Abnormality of the toenails ORPHANET:2309 KRT16 3868 HP:0008064 Ichthyosis ORPHANET:2309 KRT16 3868 HP:0002093 Respiratory insufficiency ORPHANET:2309 KRT17 3872 HP:0001601 Laryngomalacia ORPHANET:2309 KRT17 3872 HP:0008069 Neoplasm of the skin ORPHANET:2309 KRT17 3872 HP:0000982 Palmoplantar keratoderma ORPHANET:2309 KRT17 3872 HP:0001131 Corneal dystrophy ORPHANET:2309 KRT17 3872 HP:0001798 Anonychia ORPHANET:2309 KRT17 3872 HP:0001596 Alopecia ORPHANET:2309 KRT17 3872 HP:0000518 Cataract ORPHANET:2309 KRT17 3872 HP:0100543 Cognitive impairment ORPHANET:2309 KRT17 3872 HP:0001231 Abnormality of the fingernails ORPHANET:2309 KRT17 3872 HP:0002240 Hepatomegaly ORPHANET:2309 KRT17 3872 HP:0008066 Abnormal blistering of the skin ORPHANET:2309 KRT17 3872 HP:0000670 Carious teeth ORPHANET:2309 KRT17 3872 HP:0000975 Hyperhidrosis ORPHANET:2309 KRT17 3872 HP:0100643 Abnormality of nail color ORPHANET:2309 KRT17 3872 HP:0008388 Abnormality of the toenails ORPHANET:2309 KRT17 3872 HP:0008064 Ichthyosis ORPHANET:2309 KRT17 3872 HP:0002093 Respiratory insufficiency OMIM:261680 PCK1 5105 HP:0003593 Infantile onset OMIM:261680 PCK1 5105 HP:0000961 Cyanosis OMIM:261680 PCK1 5105 HP:0000648 Optic atrophy OMIM:261680 PCK1 5105 HP:0000007 Autosomal recessive inheritance OMIM:261680 PCK1 5105 HP:0001399 Hepatic failure OMIM:261680 PCK1 5105 HP:0001943 Hypoglycemia OMIM:261680 PCK1 5105 HP:0002353 EEG abnormality OMIM:261680 PCK1 5105 HP:0001263 Global developmental delay OMIM:261680 PCK1 5105 HP:0001397 Hepatic steatosis OMIM:261680 PCK1 5105 HP:0002059 Cerebral atrophy OMIM:261680 PCK1 5105 HP:0001250 Seizures OMIM:261680 PCK1 5105 HP:0000799 Renal steatosis OMIM:261680 PCK1 5105 HP:0005959 Impaired gluconeogenesis OMIM:261680 PCK1 5105 HP:0002104 Apnea OMIM:248600 BCKDHA 593 HP:0003128 Lactic acidosis OMIM:248600 BCKDHA 593 HP:0001250 Seizures OMIM:248600 BCKDHA 593 HP:0001259 Coma OMIM:248600 BCKDHA 593 HP:0001507 Growth abnormality OMIM:248600 BCKDHA 593 HP:0001276 Hypertonia OMIM:248600 BCKDHA 593 HP:0000738 Hallucinations OMIM:248600 BCKDHA 593 HP:0008872 Feeding difficulties in infancy OMIM:248600 BCKDHA 593 HP:0001946 Ketosis OMIM:248600 BCKDHA 593 HP:0002181 Cerebral edema OMIM:248600 BCKDHA 593 HP:0001249 Intellectual disability OMIM:248600 BCKDHA 593 HP:0001252 Muscular hypotonia OMIM:248600 BCKDHA 593 HP:0000007 Autosomal recessive inheritance OMIM:248600 BCKDHA 593 HP:0001254 Lethargy OMIM:248600 BCKDHA 593 HP:0001943 Hypoglycemia OMIM:248600 BCKDHA 593 HP:0001251 Ataxia OMIM:248600 BCKDHA 593 HP:0002013 Vomiting OMIM:248600 BCKDHA 593 HP:0001733 Pancreatitis OMIM:248600 BCKDHA 593 HP:0008344 Elevated plasma branched chain amino acids OMIM:248600 BCKDHB 594 HP:0003128 Lactic acidosis OMIM:248600 BCKDHB 594 HP:0001250 Seizures OMIM:248600 BCKDHB 594 HP:0001259 Coma OMIM:248600 BCKDHB 594 HP:0001507 Growth abnormality OMIM:248600 BCKDHB 594 HP:0001276 Hypertonia OMIM:248600 BCKDHB 594 HP:0000738 Hallucinations OMIM:248600 BCKDHB 594 HP:0008872 Feeding difficulties in infancy OMIM:248600 BCKDHB 594 HP:0001946 Ketosis OMIM:248600 BCKDHB 594 HP:0002181 Cerebral edema OMIM:248600 BCKDHB 594 HP:0001249 Intellectual disability OMIM:248600 BCKDHB 594 HP:0001252 Muscular hypotonia OMIM:248600 BCKDHB 594 HP:0000007 Autosomal recessive inheritance OMIM:248600 BCKDHB 594 HP:0001254 Lethargy OMIM:248600 BCKDHB 594 HP:0001943 Hypoglycemia OMIM:248600 BCKDHB 594 HP:0001251 Ataxia OMIM:248600 BCKDHB 594 HP:0002013 Vomiting OMIM:248600 BCKDHB 594 HP:0001733 Pancreatitis OMIM:248600 BCKDHB 594 HP:0008344 Elevated plasma branched chain amino acids OMIM:248600 DBT 1629 HP:0003128 Lactic acidosis OMIM:248600 DBT 1629 HP:0001250 Seizures OMIM:248600 DBT 1629 HP:0001259 Coma OMIM:248600 DBT 1629 HP:0001507 Growth abnormality OMIM:248600 DBT 1629 HP:0001276 Hypertonia OMIM:248600 DBT 1629 HP:0000738 Hallucinations OMIM:248600 DBT 1629 HP:0008872 Feeding difficulties in infancy OMIM:248600 DBT 1629 HP:0001946 Ketosis OMIM:248600 DBT 1629 HP:0002181 Cerebral edema OMIM:248600 DBT 1629 HP:0001249 Intellectual disability OMIM:248600 DBT 1629 HP:0001252 Muscular hypotonia OMIM:248600 DBT 1629 HP:0000007 Autosomal recessive inheritance OMIM:248600 DBT 1629 HP:0001254 Lethargy OMIM:248600 DBT 1629 HP:0001943 Hypoglycemia OMIM:248600 DBT 1629 HP:0001251 Ataxia OMIM:248600 DBT 1629 HP:0002013 Vomiting OMIM:248600 DBT 1629 HP:0001733 Pancreatitis OMIM:248600 DBT 1629 HP:0008344 Elevated plasma branched chain amino acids OMIM:615363 ESR1 2099 HP:0000938 Osteopenia OMIM:615363 ESR1 2099 HP:0000786 Primary amenorrhea OMIM:615363 ESR1 2099 HP:0000007 Autosomal recessive inheritance OMIM:267750 COL18A1 80781 HP:0000505 Visual impairment OMIM:267750 COL18A1 80781 HP:0000519 Congenital cataract OMIM:267750 COL18A1 80781 HP:0001250 Seizures OMIM:267750 COL18A1 80781 HP:0001643 Patent ductus arteriosus OMIM:267750 COL18A1 80781 HP:0000486 Strabismus OMIM:267750 COL18A1 80781 HP:0000541 Retinal detachment OMIM:267750 COL18A1 80781 HP:0001382 Joint hypermobility OMIM:267750 COL18A1 80781 HP:0000585 Band keratopathy OMIM:267750 COL18A1 80781 HP:0001083 Ectopia lentis OMIM:267750 COL18A1 80781 HP:0000238 Hydrocephalus OMIM:267750 COL18A1 80781 HP:0000572 Visual loss OMIM:267750 COL18A1 80781 HP:0001104 Macular hypoplasia OMIM:267750 COL18A1 80781 HP:0002021 Pyloric stenosis OMIM:267750 COL18A1 80781 HP:0000639 Nystagmus OMIM:267750 COL18A1 80781 HP:0000286 Epicanthus OMIM:267750 COL18A1 80781 HP:0000518 Cataract OMIM:267750 COL18A1 80781 HP:0000076 Vesicoureteral reflux OMIM:267750 COL18A1 80781 HP:0100764 Lymphangioma OMIM:267750 COL18A1 80781 HP:0003812 Phenotypic variability OMIM:267750 COL18A1 80781 HP:0001268 Mental deterioration OMIM:267750 COL18A1 80781 HP:0002085 Occipital encephalocele OMIM:267750 COL18A1 80781 HP:0001103 Abnormality of the macula OMIM:267750 COL18A1 80781 HP:0000272 Malar flattening OMIM:267750 COL18A1 80781 HP:0005280 Depressed nasal bridge OMIM:267750 COL18A1 80781 HP:0001272 Cerebellar atrophy OMIM:267750 COL18A1 80781 HP:0000655 Vitreoretinal degeneration OMIM:267750 COL18A1 80781 HP:0002119 Ventriculomegaly OMIM:267750 COL18A1 80781 HP:0002059 Cerebral atrophy OMIM:267750 COL18A1 80781 HP:0000667 Phthisis bulbi OMIM:267750 COL18A1 80781 HP:0001696 Situs inversus totalis OMIM:267750 COL18A1 80781 HP:0000007 Autosomal recessive inheritance OMIM:267750 COL18A1 80781 HP:0001362 Skull defect OMIM:267750 COL18A1 80781 HP:0004327 Abnormality of the vitreous humor OMIM:267750 COL18A1 80781 HP:0001251 Ataxia OMIM:267750 COL18A1 80781 HP:0002084 Encephalocele OMIM:267750 COL18A1 80781 HP:0011003 Severe Myopia OMIM:267750 COL18A1 80781 HP:0000545 Myopia OMIM:267750 COL18A1 80781 HP:0002126 Polymicrogyria OMIM:300088 PCDH19 57526 HP:0002123 Generalized myoclonic seizures OMIM:300088 PCDH19 57526 HP:0001417 X-linked inheritance OMIM:300088 PCDH19 57526 HP:0010819 Atonic seizures OMIM:300088 PCDH19 57526 HP:0007359 Focal seizures OMIM:300088 PCDH19 57526 HP:0001263 Global developmental delay OMIM:300088 PCDH19 57526 HP:0003593 Infantile onset OMIM:300088 PCDH19 57526 HP:0002133 Status epilepticus OMIM:300088 PCDH19 57526 HP:0002121 Absence seizures OMIM:300088 PCDH19 57526 HP:0000718 Aggressive behavior OMIM:300088 PCDH19 57526 HP:0002069 Generalized tonic-clonic seizures OMIM:300088 PCDH19 57526 HP:0000709 Psychosis OMIM:105150 CST3 1471 HP:0000726 Dementia OMIM:105150 CST3 1471 HP:0001297 Stroke OMIM:105150 CST3 1471 HP:0002637 Cerebral ischemia OMIM:105150 CST3 1471 HP:0001342 Cerebral hemorrhage OMIM:105150 CST3 1471 HP:0000006 Autosomal dominant inheritance OMIM:105150 CST3 1471 HP:0002170 Intracranial hemorrhage OMIM:105150 CST3 1471 HP:0003216 Generalized amyloid deposition OMIM:310468 CLCN5 1184 HP:0005576 Tubulointerstitial fibrosis OMIM:310468 CLCN5 1184 HP:0003126 Low-molecular-weight proteinuria OMIM:310468 CLCN5 1184 HP:0000092 Tubular atrophy OMIM:310468 CLCN5 1184 HP:0012622 Chronic kidney disease OMIM:310468 CLCN5 1184 HP:0002907 Microscopic hematuria OMIM:310468 CLCN5 1184 HP:0003812 Phenotypic variability OMIM:310468 CLCN5 1184 HP:0002150 Hypercalciuria OMIM:310468 CLCN5 1184 HP:0000787 Nephrolithiasis OMIM:310468 CLCN5 1184 HP:0000121 Nephrocalcinosis OMIM:310468 CLCN5 1184 HP:0000114 Proximal tubulopathy OMIM:310468 CLCN5 1184 HP:0000096 Glomerulosclerosis OMIM:310468 CLCN5 1184 HP:0001419 X-linked recessive inheritance OMIM:613800 ORC4 5000 HP:0000160 Narrow mouth OMIM:613800 ORC4 5000 HP:0002020 Gastroesophageal reflux OMIM:613800 ORC4 5000 HP:0000059 Hypoplastic labia majora OMIM:613800 ORC4 5000 HP:0001620 High pitched voice OMIM:613800 ORC4 5000 HP:0001508 Failure to thrive OMIM:613800 ORC4 5000 HP:0008551 Microtia OMIM:613800 ORC4 5000 HP:0003187 Breast hypoplasia OMIM:613800 ORC4 5000 HP:0000252 Microcephaly OMIM:613800 ORC4 5000 HP:0001382 Joint hypermobility OMIM:613800 ORC4 5000 HP:0011968 Feeding difficulties OMIM:613800 ORC4 5000 HP:0000347 Micrognathia OMIM:613800 ORC4 5000 HP:0002750 Delayed skeletal maturation OMIM:613800 ORC4 5000 HP:0003100 Slender long bone OMIM:613800 ORC4 5000 HP:0006498 Aplasia/Hypoplasia of the patella OMIM:613800 ORC4 5000 HP:0000007 Autosomal recessive inheritance OMIM:613800 ORC4 5000 HP:0001511 Intrauterine growth retardation OMIM:613800 ORC4 5000 HP:0000057 Clitoromegaly OMIM:613800 ORC4 5000 HP:0000430 Underdeveloped nasal alae OMIM:613800 ORC4 5000 HP:0000319 Smooth philtrum OMIM:613800 ORC4 5000 HP:0002780 Bronchomalacia OMIM:613800 ORC4 5000 HP:0000268 Dolichocephaly OMIM:613800 ORC4 5000 HP:0003561 Birth length less than 3rd percentile OMIM:613800 ORC4 5000 HP:0002779 Tracheomalacia OMIM:608837 MYH8 4626 HP:0000211 Trismus OMIM:608837 MYH8 4626 HP:0000006 Autosomal dominant inheritance OMIM:608837 MYH8 4626 HP:0011672 Cardiac myxoma OMIM:608837 MYH8 4626 HP:0005684 Distal arthrogryposis OMIM:615761 SETD5 55209 HP:0000028 Cryptorchidism OMIM:615761 SETD5 55209 HP:0000248 Brachycephaly OMIM:615761 SETD5 55209 HP:0000347 Micrognathia OMIM:615761 SETD5 55209 HP:0000582 Upslanted palpebral fissure OMIM:615761 SETD5 55209 HP:0003307 Hyperlordosis OMIM:615761 SETD5 55209 HP:0000219 Thin upper lip vermilion OMIM:615761 SETD5 55209 HP:0002650 Scoliosis OMIM:615761 SETD5 55209 HP:0000750 Delayed speech and language development OMIM:615761 SETD5 55209 HP:0005280 Depressed nasal bridge OMIM:615761 SETD5 55209 HP:0000722 Obsessive-compulsive behavior OMIM:615761 SETD5 55209 HP:0000047 Hypospadias OMIM:615761 SETD5 55209 HP:0001263 Global developmental delay OMIM:615761 SETD5 55209 HP:0000664 Synophrys OMIM:615761 SETD5 55209 HP:0001249 Intellectual disability OMIM:615761 SETD5 55209 HP:0000678 Dental crowding OMIM:615761 SETD5 55209 HP:0002307 Drooling OMIM:615761 SETD5 55209 HP:0002808 Kyphosis OMIM:300000 MID1 4281 HP:0000349 Widow's peak OMIM:300000 MID1 4281 HP:0000219 Thin upper lip vermilion OMIM:300000 MID1 4281 HP:0001419 X-linked recessive inheritance OMIM:300000 MID1 4281 HP:0002023 Anal atresia OMIM:300000 MID1 4281 HP:0000175 Cleft palate OMIM:300000 MID1 4281 HP:0000047 Hypospadias OMIM:300000 MID1 4281 HP:0002020 Gastroesophageal reflux OMIM:300000 MID1 4281 HP:0001739 Abnormality of the nasopharynx OMIM:300000 MID1 4281 HP:0000218 High palate OMIM:300000 MID1 4281 HP:0000506 Telecanthus OMIM:300000 MID1 4281 HP:0002835 Aspiration OMIM:300000 MID1 4281 HP:0011220 Prominent forehead OMIM:300000 MID1 4281 HP:0002564 Malformation of the heart and great vessels OMIM:300000 MID1 4281 HP:0006783 Posterior pharyngeal cleft OMIM:300000 MID1 4281 HP:0001263 Global developmental delay OMIM:300000 MID1 4281 HP:0000028 Cryptorchidism OMIM:300000 MID1 4281 HP:0000204 Cleft upper lip OMIM:300000 MID1 4281 HP:0000431 Wide nasal bridge OMIM:300000 MID1 4281 HP:0002015 Dysphagia OMIM:300000 MID1 4281 HP:0000316 Hypertelorism OMIM:300000 MID1 4281 HP:0002007 Frontal bossing OMIM:300000 MID1 4281 HP:0001274 Agenesis of corpus callosum OMIM:300000 MID1 4281 HP:0000319 Smooth philtrum OMIM:300000 MID1 4281 HP:0000463 Anteverted nares OMIM:168300 SCN4A 6329 HP:0012899 Handgrip myotonia OMIM:168300 SCN4A 6329 HP:0000006 Autosomal dominant inheritance OMIM:168300 SCN4A 6329 HP:0011809 Paradoxical myotonia OMIM:168300 SCN4A 6329 HP:0003593 Infantile onset OMIM:168300 SCN4A 6329 HP:0005348 Inspiratory stridor OMIM:168300 SCN4A 6329 HP:0001324 Muscle weakness OMIM:168300 SCN4A 6329 HP:0001319 Neonatal hypotonia OMIM:168300 SCN4A 6329 HP:0011968 Feeding difficulties OMIM:168300 SCN4A 6329 HP:0010548 Percussion myotonia OMIM:168300 SCN4A 6329 HP:0003812 Phenotypic variability OMIM:168300 SCN4A 6329 HP:0003552 Muscle stiffness OMIM:168300 SCN4A 6329 HP:0003712 Skeletal muscle hypertrophy OMIM:168300 SCN4A 6329 HP:0003326 Myalgia OMIM:426000 KDM5D 8284 HP:0001450 Y-linked inheritance OMIM:426000 KDM5D 8284 HP:0002715 Abnormality of the immune system OMIM:226670 PLEC 5339 HP:0008066 Abnormal blistering of the skin OMIM:226670 PLEC 5339 HP:0001596 Alopecia OMIM:226670 PLEC 5339 HP:0000597 Ophthalmoparesis OMIM:226670 PLEC 5339 HP:0003560 Muscular dystrophy OMIM:226670 PLEC 5339 HP:0008065 Aplasia/Hypoplasia of the skin OMIM:226670 PLEC 5339 HP:0012227 Urethral stricture OMIM:226670 PLEC 5339 HP:0000682 Abnormality of dental enamel OMIM:226670 PLEC 5339 HP:0000670 Carious teeth OMIM:226670 PLEC 5339 HP:0011859 Punctate keratitis OMIM:226670 PLEC 5339 HP:0002167 Neurological speech impairment OMIM:226670 PLEC 5339 HP:0000491 Keratitis OMIM:226670 PLEC 5339 HP:0000508 Ptosis OMIM:226670 PLEC 5339 HP:0004552 Scarring alopecia of scalp OMIM:226670 PLEC 5339 HP:0000972 Palmoplantar hyperkeratosis OMIM:226670 PLEC 5339 HP:0008404 Nail dystrophy OMIM:226670 PLEC 5339 HP:0002164 Nail dysplasia OMIM:226670 PLEC 5339 HP:0001231 Abnormality of the fingernails OMIM:226670 PLEC 5339 HP:0003198 Myopathy OMIM:226670 PLEC 5339 HP:0000007 Autosomal recessive inheritance OMIM:226670 PLEC 5339 HP:0009025 Increased connective tissue OMIM:226670 PLEC 5339 HP:0006297 Hypoplasia of dental enamel OMIM:226670 PLEC 5339 HP:0003473 Fatigable weakness OMIM:226670 PLEC 5339 HP:0002643 Neonatal respiratory distress OMIM:226670 PLEC 5339 HP:0001056 Milia OMIM:226670 PLEC 5339 HP:0001903 Anemia OMIM:226670 PLEC 5339 HP:0004322 Short stature ORPHANET:773 PHYH 5264 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:773 PHYH 5264 HP:0000518 Cataract ORPHANET:773 PHYH 5264 HP:0002376 Developmental regression ORPHANET:773 PHYH 5264 HP:0000508 Ptosis ORPHANET:773 PHYH 5264 HP:0007256 Abnormal pyramidal signs ORPHANET:773 PHYH 5264 HP:0002311 Incoordination ORPHANET:773 PHYH 5264 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:773 PHYH 5264 HP:0000958 Dry skin ORPHANET:773 PHYH 5264 HP:0004374 Hemiplegia/hemiparesis ORPHANET:773 PHYH 5264 HP:0001761 Pes cavus ORPHANET:773 PHYH 5264 HP:0011675 Arrhythmia ORPHANET:773 PHYH 5264 HP:0002093 Respiratory insufficiency ORPHANET:773 PHYH 5264 HP:0000505 Visual impairment ORPHANET:773 PHYH 5264 HP:0002652 Skeletal dysplasia ORPHANET:773 PHYH 5264 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:773 PHYH 5264 HP:0002167 Neurological speech impairment ORPHANET:773 PHYH 5264 HP:0005930 Abnormality of epiphysis morphology ORPHANET:773 PHYH 5264 HP:0000615 Abnormality of the pupil ORPHANET:773 PHYH 5264 HP:0008064 Ichthyosis ORPHANET:773 PHYH 5264 HP:0100543 Cognitive impairment ORPHANET:773 PHYH 5264 HP:0000407 Sensorineural hearing impairment ORPHANET:773 PHYH 5264 HP:0001836 Camptodactyly of toe ORPHANET:773 PHYH 5264 HP:0004408 Abnormality of the sense of smell ORPHANET:773 PHYH 5264 HP:0003202 Skeletal muscle atrophy ORPHANET:773 PHYH 5264 HP:0000639 Nystagmus ORPHANET:773 PHYH 5264 HP:0007703 Abnormal retinal pigmentation ORPHANET:773 PHYH 5264 HP:0009830 Peripheral neuropathy ORPHANET:773 PHYH 5264 HP:0001252 Muscular hypotonia ORPHANET:773 PHYH 5264 HP:0001163 Abnormality of the metacarpal bones ORPHANET:773 PHYH 5264 HP:0000488 Retinopathy ORPHANET:773 PHYH 5264 HP:0000083 Renal insufficiency ORPHANET:773 PHYH 5264 HP:0001744 Splenomegaly ORPHANET:773 PEX7 5191 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:773 PEX7 5191 HP:0000518 Cataract ORPHANET:773 PEX7 5191 HP:0002376 Developmental regression ORPHANET:773 PEX7 5191 HP:0000508 Ptosis ORPHANET:773 PEX7 5191 HP:0007256 Abnormal pyramidal signs ORPHANET:773 PEX7 5191 HP:0002311 Incoordination ORPHANET:773 PEX7 5191 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:773 PEX7 5191 HP:0000958 Dry skin ORPHANET:773 PEX7 5191 HP:0004374 Hemiplegia/hemiparesis ORPHANET:773 PEX7 5191 HP:0001761 Pes cavus ORPHANET:773 PEX7 5191 HP:0011675 Arrhythmia ORPHANET:773 PEX7 5191 HP:0002093 Respiratory insufficiency ORPHANET:773 PEX7 5191 HP:0000505 Visual impairment ORPHANET:773 PEX7 5191 HP:0002652 Skeletal dysplasia ORPHANET:773 PEX7 5191 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:773 PEX7 5191 HP:0002167 Neurological speech impairment ORPHANET:773 PEX7 5191 HP:0005930 Abnormality of epiphysis morphology ORPHANET:773 PEX7 5191 HP:0000615 Abnormality of the pupil ORPHANET:773 PEX7 5191 HP:0008064 Ichthyosis ORPHANET:773 PEX7 5191 HP:0100543 Cognitive impairment ORPHANET:773 PEX7 5191 HP:0000407 Sensorineural hearing impairment ORPHANET:773 PEX7 5191 HP:0001836 Camptodactyly of toe ORPHANET:773 PEX7 5191 HP:0004408 Abnormality of the sense of smell ORPHANET:773 PEX7 5191 HP:0003202 Skeletal muscle atrophy ORPHANET:773 PEX7 5191 HP:0000639 Nystagmus ORPHANET:773 PEX7 5191 HP:0007703 Abnormal retinal pigmentation ORPHANET:773 PEX7 5191 HP:0009830 Peripheral neuropathy ORPHANET:773 PEX7 5191 HP:0001252 Muscular hypotonia ORPHANET:773 PEX7 5191 HP:0001163 Abnormality of the metacarpal bones ORPHANET:773 PEX7 5191 HP:0000488 Retinopathy ORPHANET:773 PEX7 5191 HP:0000083 Renal insufficiency ORPHANET:773 PEX7 5191 HP:0001744 Splenomegaly OMIM:615633 WDR34 89891 HP:0002205 Recurrent respiratory infections OMIM:615633 WDR34 89891 HP:0000750 Delayed speech and language development OMIM:615633 WDR34 89891 HP:0001156 Brachydactyly syndrome OMIM:615633 WDR34 89891 HP:0006644 Thoracic dysplasia OMIM:615633 WDR34 89891 HP:0100259 Postaxial polydactyly OMIM:615633 WDR34 89891 HP:0000774 Narrow chest OMIM:615633 WDR34 89891 HP:0000007 Autosomal recessive inheritance OMIM:615633 WDR34 89891 HP:0000028 Cryptorchidism OMIM:615633 WDR34 89891 HP:0000888 Horizontal ribs OMIM:615633 WDR34 89891 HP:0001591 Bell-shaped thorax OMIM:615633 WDR34 89891 HP:0001561 Polyhydramnios OMIM:615633 WDR34 89891 HP:0000121 Nephrocalcinosis OMIM:615633 WDR34 89891 HP:0002093 Respiratory insufficiency OMIM:615633 WDR34 89891 HP:0001513 Obesity OMIM:615633 WDR34 89891 HP:0003026 Short long bone OMIM:204200 CLN3 1201 HP:0000709 Psychosis OMIM:204200 CLN3 1201 HP:0002074 Increased neuronal autofluorescent lipopigment OMIM:204200 CLN3 1201 HP:0001300 Parkinsonism OMIM:204200 CLN3 1201 HP:0002361 Psychomotor deterioration OMIM:204200 CLN3 1201 HP:0000510 Retinitis pigmentosa OMIM:204200 CLN3 1201 HP:0003463 Increased extraneuronal autofluorescent lipopigment OMIM:204200 CLN3 1201 HP:0000529 Progressive visual loss OMIM:204200 CLN3 1201 HP:0002505 Progressive inability to walk OMIM:204200 CLN3 1201 HP:0001317 Abnormality of the cerebellum OMIM:204200 CLN3 1201 HP:0000608 Macular degeneration OMIM:204200 CLN3 1201 HP:0003205 Curvilinear intracellular accumulation of autofluorescent lipopigment storage material OMIM:204200 CLN3 1201 HP:0001260 Dysarthria OMIM:204200 CLN3 1201 HP:0000726 Dementia OMIM:204200 CLN3 1201 HP:0001922 Vacuolated lymphocytes OMIM:204200 CLN3 1201 HP:0001336 Myoclonus OMIM:204200 CLN3 1201 HP:0001250 Seizures OMIM:204200 CLN3 1201 HP:0002059 Cerebral atrophy OMIM:204200 CLN3 1201 HP:0001249 Intellectual disability OMIM:204200 CLN3 1201 HP:0003208 Fingerprint intracellular accumulation of autofluorescent lipopigment storage material OMIM:204200 CLN3 1201 HP:0000550 Abolished electroretinogram (ERG) OMIM:204200 CLN3 1201 HP:0000007 Autosomal recessive inheritance OMIM:204200 CLN3 1201 HP:0000618 Blindness OMIM:204200 CLN3 1201 HP:0000648 Optic atrophy OMIM:204200 CLN3 1201 HP:0000739 Anxiety OMIM:200600 TRIP11 9321 HP:0001156 Brachydactyly syndrome OMIM:200600 TRIP11 9321 HP:0001831 Short toe OMIM:200600 TRIP11 9321 HP:0000007 Autosomal recessive inheritance OMIM:200600 TRIP11 9321 HP:0000923 Beaded ribs OMIM:200600 TRIP11 9321 HP:0003521 Disproportionate short-trunk short stature OMIM:200600 TRIP11 9321 HP:0000476 Cystic hygroma OMIM:200600 TRIP11 9321 HP:0000894 Short clavicles OMIM:200600 TRIP11 9321 HP:0003196 Short nose OMIM:200600 TRIP11 9321 HP:0000463 Anteverted nares OMIM:200600 TRIP11 9321 HP:0001789 Hydrops fetalis OMIM:200600 TRIP11 9321 HP:0002652 Skeletal dysplasia OMIM:200600 TRIP11 9321 HP:0000774 Narrow chest OMIM:200600 TRIP11 9321 HP:0000343 Long philtrum OMIM:200600 TRIP11 9321 HP:0004331 Decreased skull ossification OMIM:200600 TRIP11 9321 HP:0003826 Stillbirth OMIM:200600 TRIP11 9321 HP:0010675 Abnormal foot bone ossification OMIM:200600 TRIP11 9321 HP:0010660 Abnormal hand bone ossification OMIM:200600 TRIP11 9321 HP:0000272 Malar flattening OMIM:200600 TRIP11 9321 HP:0002564 Malformation of the heart and great vessels OMIM:200600 TRIP11 9321 HP:0001537 Umbilical hernia OMIM:200600 TRIP11 9321 HP:0001561 Polyhydramnios OMIM:200600 TRIP11 9321 HP:0002984 Hypoplasia of the radius OMIM:200600 TRIP11 9321 HP:0002983 Micromelia OMIM:200600 TRIP11 9321 HP:0001538 Protuberant abdomen OMIM:200600 TRIP11 9321 HP:0000916 Broad clavicles OMIM:200600 TRIP11 9321 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:200600 TRIP11 9321 HP:0000347 Micrognathia OMIM:200600 TRIP11 9321 HP:0000470 Short neck OMIM:200600 TRIP11 9321 HP:0001552 Barrel-shaped chest OMIM:200600 TRIP11 9321 HP:0005280 Depressed nasal bridge OMIM:200600 TRIP11 9321 HP:0000773 Short ribs OMIM:200600 TRIP11 9321 HP:0010306 Short thorax OMIM:200600 TRIP11 9321 HP:0003175 Hypoplastic ischia OMIM:200600 TRIP11 9321 HP:0000882 Hypoplastic scapulae OMIM:200600 TRIP11 9321 HP:0006489 Abnormality of the femoral metaphysis OMIM:200600 TRIP11 9321 HP:0002007 Frontal bossing OMIM:200600 TRIP11 9321 HP:0002757 Recurrent fractures OMIM:200600 TRIP11 9321 HP:0000256 Macrocephaly OMIM:200600 TRIP11 9321 HP:0004606 Unossified vertebral bodies OMIM:200600 TRIP11 9321 HP:0004348 Abnormality of bone mineral density OMIM:200600 TRIP11 9321 HP:0000474 Thickened nuchal skin fold OMIM:611721 PSAP 5660 HP:0011968 Feeding difficulties OMIM:611721 PSAP 5660 HP:0000496 Abnormality of eye movement OMIM:611721 PSAP 5660 HP:0001336 Myoclonus OMIM:611721 PSAP 5660 HP:0002529 Neuronal loss in central nervous system OMIM:611721 PSAP 5660 HP:0002380 Fasciculations OMIM:611721 PSAP 5660 HP:0001522 Death in infancy OMIM:611721 PSAP 5660 HP:0002518 Abnormality of the periventricular white matter OMIM:611721 PSAP 5660 HP:0001252 Muscular hypotonia OMIM:611721 PSAP 5660 HP:0003577 Congenital onset OMIM:611721 PSAP 5660 HP:0011169 Generalized clonic seizures OMIM:611721 PSAP 5660 HP:0001744 Splenomegaly OMIM:611721 PSAP 5660 HP:0002093 Respiratory insufficiency OMIM:611721 PSAP 5660 HP:0002487 Hyperkinesis OMIM:611721 PSAP 5660 HP:0001250 Seizures OMIM:611721 PSAP 5660 HP:0002240 Hepatomegaly OMIM:611721 PSAP 5660 HP:0004305 Involuntary movements OMIM:611721 PSAP 5660 HP:0004343 Abnormality of glycosphingolipid metabolism OMIM:611721 PSAP 5660 HP:0000648 Optic atrophy OMIM:611721 PSAP 5660 HP:0002205 Recurrent respiratory infections OMIM:611721 PSAP 5660 HP:0003487 Babinski sign OMIM:611721 PSAP 5660 HP:0000007 Autosomal recessive inheritance OMIM:611721 PSAP 5660 HP:0002079 Hypoplasia of the corpus callosum OMIM:611721 PSAP 5660 HP:0007305 CNS demyelination OMIM:607016 IDUA 3425 HP:0000007 Autosomal recessive inheritance OMIM:607016 IDUA 3425 HP:0000546 Retinal degeneration OMIM:607016 IDUA 3425 HP:0000445 Wide nose OMIM:607016 IDUA 3425 HP:0008155 Mucopolysacchariduria OMIM:607016 IDUA 3425 HP:0007759 Opacification of the corneal stroma OMIM:607016 IDUA 3425 HP:0001646 Abnormality of the aortic valve OMIM:607016 IDUA 3425 HP:0000232 Everted lower lip vermilion OMIM:607016 IDUA 3425 HP:0000283 Broad face OMIM:607016 IDUA 3425 HP:0000154 Wide mouth OMIM:607016 IDUA 3425 HP:0007957 Corneal opacity OMIM:607016 IDUA 3425 HP:0004374 Hemiplegia/hemiparesis OMIM:607016 IDUA 3425 HP:0000293 Full cheeks OMIM:607016 IDUA 3425 HP:0100021 Cerebral palsy OMIM:607016 IDUA 3425 HP:0001744 Splenomegaly OMIM:607016 IDUA 3425 HP:0000501 Glaucoma OMIM:607016 IDUA 3425 HP:0002857 Genu valgum OMIM:607016 IDUA 3425 HP:0000470 Short neck OMIM:607016 IDUA 3425 HP:0002240 Hepatomegaly OMIM:607016 IDUA 3425 HP:0001276 Hypertonia OMIM:607016 IDUA 3425 HP:0001650 Aortic valve stenosis OMIM:607016 IDUA 3425 HP:0000407 Sensorineural hearing impairment OMIM:607016 IDUA 3425 HP:0001761 Pes cavus OMIM:607016 IDUA 3425 HP:0005280 Depressed nasal bridge OMIM:607016 IDUA 3425 HP:0001659 Aortic regurgitation OMIM:607016 IDUA 3425 HP:0000303 Mandibular prognathia OMIM:607016 IDUA 3425 HP:0000246 Sinusitis OMIM:607016 IDUA 3425 HP:0001376 Limitation of joint mobility OMIM:607016 IDUA 3425 HP:0000280 Coarse facial features OMIM:607016 IDUA 3425 HP:0000179 Thick lower lip vermilion OMIM:607016 IDUA 3425 HP:0002870 Obstructive sleep apnea OMIM:607016 IDUA 3425 HP:0000762 Decreased nerve conduction velocity OMIM:202650 PRRX1 5396 HP:0000160 Narrow mouth OMIM:202650 PRRX1 5396 HP:0003363 Abdominal situs inversus OMIM:202650 PRRX1 5396 HP:0100596 Absent nares OMIM:202650 PRRX1 5396 HP:0000347 Micrognathia OMIM:202650 PRRX1 5396 HP:0005349 Hypoplasia of the epiglottis OMIM:202650 PRRX1 5396 HP:0100663 Synotia OMIM:202650 PRRX1 5396 HP:0002098 Respiratory distress OMIM:202650 PRRX1 5396 HP:0002093 Respiratory insufficiency OMIM:202650 PRRX1 5396 HP:0001561 Polyhydramnios OMIM:202650 PRRX1 5396 HP:0012730 Aglossia OMIM:202650 PRRX1 5396 HP:0000368 Low-set, posteriorly rotated ears OMIM:202650 PRRX1 5396 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:202650 PRRX1 5396 HP:0000006 Autosomal dominant inheritance OMIM:202650 PRRX1 5396 HP:0000494 Downslanted palpebral fissures OMIM:202650 PRRX1 5396 HP:0000175 Cleft palate OMIM:202650 PRRX1 5396 HP:0000007 Autosomal recessive inheritance OMIM:202650 PRRX1 5396 HP:0001274 Agenesis of corpus callosum OMIM:202650 PRRX1 5396 HP:0000171 Microglossia OMIM:202650 PRRX1 5396 HP:0000405 Conductive hearing impairment OMIM:202650 PRRX1 5396 HP:0008736 Hypoplasia of penis OMIM:202650 PRRX1 5396 HP:0009924 Aplasia/Hypoplasia involving the nose OMIM:202650 PRRX1 5396 HP:0000478 Abnormality of the eye OMIM:202650 PRRX1 5396 HP:0001360 Holoprosencephaly OMIM:202650 PRRX1 5396 HP:0001291 Abnormality of the cranial nerves OMIM:202650 PRRX1 5396 HP:0009914 Cyclopia OMIM:202650 PRRX1 5396 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:202650 PRRX1 5396 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:202650 PRRX1 5396 HP:0002779 Tracheomalacia OMIM:202650 PRRX1 5396 HP:0010295 Aplasia/Hypoplasia of the tongue OMIM:202650 PRRX1 5396 HP:0008749 Laryngeal hypoplasia OMIM:202650 PRRX1 5396 HP:0001696 Situs inversus totalis OMIM:202650 PRRX1 5396 HP:0003812 Phenotypic variability OMIM:131950 PLEC 5339 HP:0001597 Abnormality of the nail OMIM:131950 PLEC 5339 HP:0007585 Skin fragility with non-scarring blistering OMIM:131950 PLEC 5339 HP:0008066 Abnormal blistering of the skin OMIM:131950 PLEC 5339 HP:0008065 Aplasia/Hypoplasia of the skin OMIM:131950 PLEC 5339 HP:0008401 Onychogryposis of toenails OMIM:131950 PLEC 5339 HP:0000962 Hyperkeratosis OMIM:131950 PLEC 5339 HP:0000978 Bruising susceptibility OMIM:131950 PLEC 5339 HP:0000006 Autosomal dominant inheritance OMIM:613581 IMPG2 50939 HP:0000007 Autosomal recessive inheritance OMIM:613581 IMPG2 50939 HP:0007787 Posterior subcapsular cataract OMIM:613581 IMPG2 50939 HP:0000510 Retinitis pigmentosa OMIM:613581 IMPG2 50939 HP:0000505 Visual impairment OMIM:613581 IMPG2 50939 HP:0000662 Night blindness OMIM:616042 CLIC5 53405 HP:0000407 Sensorineural hearing impairment OMIM:616042 CLIC5 53405 HP:0008568 Vestibular areflexia ORPHANET:528 FOS 2353 HP:0000112 Nephropathy ORPHANET:528 FOS 2353 HP:0012062 Bone cyst ORPHANET:528 FOS 2353 HP:0000975 Hyperhidrosis ORPHANET:528 FOS 2353 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:528 FOS 2353 HP:0100578 Lipoatrophy ORPHANET:528 FOS 2353 HP:0002092 Pulmonary hypertension ORPHANET:528 FOS 2353 HP:0000083 Renal insufficiency ORPHANET:528 FOS 2353 HP:0003119 Abnormality of lipid metabolism ORPHANET:528 FOS 2353 HP:0000845 Growth hormone excess ORPHANET:528 FOS 2353 HP:0000819 Diabetes mellitus ORPHANET:528 FOS 2353 HP:0003712 Skeletal muscle hypertrophy ORPHANET:528 FOS 2353 HP:0100543 Cognitive impairment ORPHANET:528 FOS 2353 HP:0001176 Large hands ORPHANET:528 FOS 2353 HP:0001397 Hepatic steatosis ORPHANET:528 FOS 2353 HP:0000855 Insulin resistance ORPHANET:528 FOS 2353 HP:0001733 Pancreatitis ORPHANET:528 FOS 2353 HP:0010978 Abnormality of immune system physiology ORPHANET:528 FOS 2353 HP:0000140 Abnormality of the menstrual cycle ORPHANET:528 FOS 2353 HP:0000826 Precocious puberty ORPHANET:528 FOS 2353 HP:0001677 Coronary artery disease ORPHANET:528 FOS 2353 HP:0001000 Abnormality of skin pigmentation ORPHANET:528 FOS 2353 HP:0000842 Hyperinsulinemia ORPHANET:528 FOS 2353 HP:0000956 Acanthosis nigricans ORPHANET:528 FOS 2353 HP:0000147 Polycystic ovaries ORPHANET:528 FOS 2353 HP:0005616 Accelerated skeletal maturation ORPHANET:528 FOS 2353 HP:0002240 Hepatomegaly ORPHANET:528 FOS 2353 HP:0000998 Hypertrichosis ORPHANET:528 FOS 2353 HP:0001394 Cirrhosis ORPHANET:528 FOS 2353 HP:0000303 Mandibular prognathia ORPHANET:528 FOS 2353 HP:0002757 Recurrent fractures ORPHANET:528 FOS 2353 HP:0000163 Abnormality of the oral cavity ORPHANET:528 FOS 2353 HP:0100820 Glomerulopathy ORPHANET:528 FOS 2353 HP:0000336 Prominent supraorbital ridges ORPHANET:528 FOS 2353 HP:0001399 Hepatic failure ORPHANET:528 FOS 2353 HP:0009830 Peripheral neuropathy ORPHANET:528 FOS 2353 HP:0001769 Broad foot ORPHANET:528 FOS 2353 HP:0002119 Ventriculomegaly ORPHANET:528 BSCL2 26580 HP:0000112 Nephropathy ORPHANET:528 BSCL2 26580 HP:0012062 Bone cyst ORPHANET:528 BSCL2 26580 HP:0000975 Hyperhidrosis ORPHANET:528 BSCL2 26580 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:528 BSCL2 26580 HP:0100578 Lipoatrophy ORPHANET:528 BSCL2 26580 HP:0002092 Pulmonary hypertension ORPHANET:528 BSCL2 26580 HP:0000083 Renal insufficiency ORPHANET:528 BSCL2 26580 HP:0003119 Abnormality of lipid metabolism ORPHANET:528 BSCL2 26580 HP:0000845 Growth hormone excess ORPHANET:528 BSCL2 26580 HP:0000819 Diabetes mellitus ORPHANET:528 BSCL2 26580 HP:0003712 Skeletal muscle hypertrophy ORPHANET:528 BSCL2 26580 HP:0100543 Cognitive impairment ORPHANET:528 BSCL2 26580 HP:0001176 Large hands ORPHANET:528 BSCL2 26580 HP:0001397 Hepatic steatosis ORPHANET:528 BSCL2 26580 HP:0000855 Insulin resistance ORPHANET:528 BSCL2 26580 HP:0001733 Pancreatitis ORPHANET:528 BSCL2 26580 HP:0010978 Abnormality of immune system physiology ORPHANET:528 BSCL2 26580 HP:0000140 Abnormality of the menstrual cycle ORPHANET:528 BSCL2 26580 HP:0000826 Precocious puberty ORPHANET:528 BSCL2 26580 HP:0001677 Coronary artery disease ORPHANET:528 BSCL2 26580 HP:0001000 Abnormality of skin pigmentation ORPHANET:528 BSCL2 26580 HP:0000842 Hyperinsulinemia ORPHANET:528 BSCL2 26580 HP:0000956 Acanthosis nigricans ORPHANET:528 BSCL2 26580 HP:0000147 Polycystic ovaries ORPHANET:528 BSCL2 26580 HP:0005616 Accelerated skeletal maturation ORPHANET:528 BSCL2 26580 HP:0002240 Hepatomegaly ORPHANET:528 BSCL2 26580 HP:0000998 Hypertrichosis ORPHANET:528 BSCL2 26580 HP:0001394 Cirrhosis ORPHANET:528 BSCL2 26580 HP:0000303 Mandibular prognathia ORPHANET:528 BSCL2 26580 HP:0002757 Recurrent fractures ORPHANET:528 BSCL2 26580 HP:0000163 Abnormality of the oral cavity ORPHANET:528 BSCL2 26580 HP:0100820 Glomerulopathy ORPHANET:528 BSCL2 26580 HP:0000336 Prominent supraorbital ridges ORPHANET:528 BSCL2 26580 HP:0001399 Hepatic failure ORPHANET:528 BSCL2 26580 HP:0009830 Peripheral neuropathy ORPHANET:528 BSCL2 26580 HP:0001769 Broad foot ORPHANET:528 BSCL2 26580 HP:0002119 Ventriculomegaly ORPHANET:528 PPARG 5468 HP:0000112 Nephropathy ORPHANET:528 PPARG 5468 HP:0012062 Bone cyst ORPHANET:528 PPARG 5468 HP:0000975 Hyperhidrosis ORPHANET:528 PPARG 5468 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:528 PPARG 5468 HP:0100578 Lipoatrophy ORPHANET:528 PPARG 5468 HP:0002092 Pulmonary hypertension ORPHANET:528 PPARG 5468 HP:0000083 Renal insufficiency ORPHANET:528 PPARG 5468 HP:0003119 Abnormality of lipid metabolism ORPHANET:528 PPARG 5468 HP:0000845 Growth hormone excess ORPHANET:528 PPARG 5468 HP:0000819 Diabetes mellitus ORPHANET:528 PPARG 5468 HP:0003712 Skeletal muscle hypertrophy ORPHANET:528 PPARG 5468 HP:0100543 Cognitive impairment ORPHANET:528 PPARG 5468 HP:0001176 Large hands ORPHANET:528 PPARG 5468 HP:0001397 Hepatic steatosis ORPHANET:528 PPARG 5468 HP:0000855 Insulin resistance ORPHANET:528 PPARG 5468 HP:0001733 Pancreatitis ORPHANET:528 PPARG 5468 HP:0010978 Abnormality of immune system physiology ORPHANET:528 PPARG 5468 HP:0000140 Abnormality of the menstrual cycle ORPHANET:528 PPARG 5468 HP:0000826 Precocious puberty ORPHANET:528 PPARG 5468 HP:0001677 Coronary artery disease ORPHANET:528 PPARG 5468 HP:0001000 Abnormality of skin pigmentation ORPHANET:528 PPARG 5468 HP:0000842 Hyperinsulinemia ORPHANET:528 PPARG 5468 HP:0000956 Acanthosis nigricans ORPHANET:528 PPARG 5468 HP:0000147 Polycystic ovaries ORPHANET:528 PPARG 5468 HP:0005616 Accelerated skeletal maturation ORPHANET:528 PPARG 5468 HP:0002240 Hepatomegaly ORPHANET:528 PPARG 5468 HP:0000998 Hypertrichosis ORPHANET:528 PPARG 5468 HP:0001394 Cirrhosis ORPHANET:528 PPARG 5468 HP:0000303 Mandibular prognathia ORPHANET:528 PPARG 5468 HP:0002757 Recurrent fractures ORPHANET:528 PPARG 5468 HP:0000163 Abnormality of the oral cavity ORPHANET:528 PPARG 5468 HP:0100820 Glomerulopathy ORPHANET:528 PPARG 5468 HP:0000336 Prominent supraorbital ridges ORPHANET:528 PPARG 5468 HP:0001399 Hepatic failure ORPHANET:528 PPARG 5468 HP:0009830 Peripheral neuropathy ORPHANET:528 PPARG 5468 HP:0001769 Broad foot ORPHANET:528 PPARG 5468 HP:0002119 Ventriculomegaly ORPHANET:528 AGPAT2 10555 HP:0000112 Nephropathy ORPHANET:528 AGPAT2 10555 HP:0012062 Bone cyst ORPHANET:528 AGPAT2 10555 HP:0000975 Hyperhidrosis ORPHANET:528 AGPAT2 10555 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:528 AGPAT2 10555 HP:0100578 Lipoatrophy ORPHANET:528 AGPAT2 10555 HP:0002092 Pulmonary hypertension ORPHANET:528 AGPAT2 10555 HP:0000083 Renal insufficiency ORPHANET:528 AGPAT2 10555 HP:0003119 Abnormality of lipid metabolism ORPHANET:528 AGPAT2 10555 HP:0000845 Growth hormone excess ORPHANET:528 AGPAT2 10555 HP:0000819 Diabetes mellitus ORPHANET:528 AGPAT2 10555 HP:0003712 Skeletal muscle hypertrophy ORPHANET:528 AGPAT2 10555 HP:0100543 Cognitive impairment ORPHANET:528 AGPAT2 10555 HP:0001176 Large hands ORPHANET:528 AGPAT2 10555 HP:0001397 Hepatic steatosis ORPHANET:528 AGPAT2 10555 HP:0000855 Insulin resistance ORPHANET:528 AGPAT2 10555 HP:0001733 Pancreatitis ORPHANET:528 AGPAT2 10555 HP:0010978 Abnormality of immune system physiology ORPHANET:528 AGPAT2 10555 HP:0000140 Abnormality of the menstrual cycle ORPHANET:528 AGPAT2 10555 HP:0000826 Precocious puberty ORPHANET:528 AGPAT2 10555 HP:0001677 Coronary artery disease ORPHANET:528 AGPAT2 10555 HP:0001000 Abnormality of skin pigmentation ORPHANET:528 AGPAT2 10555 HP:0000842 Hyperinsulinemia ORPHANET:528 AGPAT2 10555 HP:0000956 Acanthosis nigricans ORPHANET:528 AGPAT2 10555 HP:0000147 Polycystic ovaries ORPHANET:528 AGPAT2 10555 HP:0005616 Accelerated skeletal maturation ORPHANET:528 AGPAT2 10555 HP:0002240 Hepatomegaly ORPHANET:528 AGPAT2 10555 HP:0000998 Hypertrichosis ORPHANET:528 AGPAT2 10555 HP:0001394 Cirrhosis ORPHANET:528 AGPAT2 10555 HP:0000303 Mandibular prognathia ORPHANET:528 AGPAT2 10555 HP:0002757 Recurrent fractures ORPHANET:528 AGPAT2 10555 HP:0000163 Abnormality of the oral cavity ORPHANET:528 AGPAT2 10555 HP:0100820 Glomerulopathy ORPHANET:528 AGPAT2 10555 HP:0000336 Prominent supraorbital ridges ORPHANET:528 AGPAT2 10555 HP:0001399 Hepatic failure ORPHANET:528 AGPAT2 10555 HP:0009830 Peripheral neuropathy ORPHANET:528 AGPAT2 10555 HP:0001769 Broad foot ORPHANET:528 AGPAT2 10555 HP:0002119 Ventriculomegaly ORPHANET:528 CAV1 857 HP:0000112 Nephropathy ORPHANET:528 CAV1 857 HP:0012062 Bone cyst ORPHANET:528 CAV1 857 HP:0000975 Hyperhidrosis ORPHANET:528 CAV1 857 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:528 CAV1 857 HP:0100578 Lipoatrophy ORPHANET:528 CAV1 857 HP:0002092 Pulmonary hypertension ORPHANET:528 CAV1 857 HP:0000083 Renal insufficiency ORPHANET:528 CAV1 857 HP:0003119 Abnormality of lipid metabolism ORPHANET:528 CAV1 857 HP:0000845 Growth hormone excess ORPHANET:528 CAV1 857 HP:0000819 Diabetes mellitus ORPHANET:528 CAV1 857 HP:0003712 Skeletal muscle hypertrophy ORPHANET:528 CAV1 857 HP:0100543 Cognitive impairment ORPHANET:528 CAV1 857 HP:0001176 Large hands ORPHANET:528 CAV1 857 HP:0001397 Hepatic steatosis ORPHANET:528 CAV1 857 HP:0000855 Insulin resistance ORPHANET:528 CAV1 857 HP:0001733 Pancreatitis ORPHANET:528 CAV1 857 HP:0010978 Abnormality of immune system physiology ORPHANET:528 CAV1 857 HP:0000140 Abnormality of the menstrual cycle ORPHANET:528 CAV1 857 HP:0000826 Precocious puberty ORPHANET:528 CAV1 857 HP:0001677 Coronary artery disease ORPHANET:528 CAV1 857 HP:0001000 Abnormality of skin pigmentation ORPHANET:528 CAV1 857 HP:0000842 Hyperinsulinemia ORPHANET:528 CAV1 857 HP:0000956 Acanthosis nigricans ORPHANET:528 CAV1 857 HP:0000147 Polycystic ovaries ORPHANET:528 CAV1 857 HP:0005616 Accelerated skeletal maturation ORPHANET:528 CAV1 857 HP:0002240 Hepatomegaly ORPHANET:528 CAV1 857 HP:0000998 Hypertrichosis ORPHANET:528 CAV1 857 HP:0001394 Cirrhosis ORPHANET:528 CAV1 857 HP:0000303 Mandibular prognathia ORPHANET:528 CAV1 857 HP:0002757 Recurrent fractures ORPHANET:528 CAV1 857 HP:0000163 Abnormality of the oral cavity ORPHANET:528 CAV1 857 HP:0100820 Glomerulopathy ORPHANET:528 CAV1 857 HP:0000336 Prominent supraorbital ridges ORPHANET:528 CAV1 857 HP:0001399 Hepatic failure ORPHANET:528 CAV1 857 HP:0009830 Peripheral neuropathy ORPHANET:528 CAV1 857 HP:0001769 Broad foot ORPHANET:528 CAV1 857 HP:0002119 Ventriculomegaly OMIM:260920 MVK 4598 HP:0003326 Myalgia OMIM:260920 MVK 4598 HP:0002829 Arthralgia OMIM:260920 MVK 4598 HP:0001933 Subcutaneous hemorrhage OMIM:260920 MVK 4598 HP:0004370 Abnormality of temperature regulation OMIM:260920 MVK 4598 HP:0002716 Lymphadenopathy OMIM:260920 MVK 4598 HP:0000988 Skin rash OMIM:260920 MVK 4598 HP:0002027 Abdominal pain OMIM:260920 MVK 4598 HP:0002311 Incoordination OMIM:260920 MVK 4598 HP:0000662 Night blindness OMIM:260920 MVK 4598 HP:0003565 Elevated erythrocyte sedimentation rate OMIM:260920 MVK 4598 HP:0002633 Vasculitis OMIM:260920 MVK 4598 HP:0002239 Gastrointestinal hemorrhage OMIM:260920 MVK 4598 HP:0001369 Arthritis OMIM:260920 MVK 4598 HP:0002315 Headache OMIM:260920 MVK 4598 HP:0100543 Cognitive impairment OMIM:260920 MVK 4598 HP:0002586 Peritonitis OMIM:260920 MVK 4598 HP:0000510 Retinitis pigmentosa OMIM:260920 MVK 4598 HP:0001025 Urticaria OMIM:260920 MVK 4598 HP:0001034 Hypermelanotic macule OMIM:260920 MVK 4598 HP:0002014 Diarrhea OMIM:260920 MVK 4598 HP:0010701 Abnormal immunoglobulin level OMIM:260920 MVK 4598 HP:0001974 Leukocytosis OMIM:260920 MVK 4598 HP:0002240 Hepatomegaly OMIM:260920 MVK 4598 HP:0005214 Intestinal obstruction OMIM:260920 MVK 4598 HP:0001063 Acrocyanosis OMIM:260920 MVK 4598 HP:0000007 Autosomal recessive inheritance OMIM:260920 MVK 4598 HP:0002076 Migraine OMIM:260920 MVK 4598 HP:0002321 Vertigo OMIM:260920 MVK 4598 HP:0002013 Vomiting OMIM:260920 MVK 4598 HP:0001744 Splenomegaly OMIM:260920 MVK 4598 HP:0003261 Increased IgA level OMIM:260920 MVK 4598 HP:0001376 Limitation of joint mobility OMIM:260920 MVK 4598 HP:0000163 Abnormality of the oral cavity OMIM:260920 MVK 4598 HP:0001250 Seizures OMIM:260920 MVK 4598 HP:0000543 Optic disc pallor OMIM:615505 SPAG1 6674 HP:0000246 Sinusitis OMIM:615505 SPAG1 6674 HP:0012265 Ciliary dyskinesia OMIM:615505 SPAG1 6674 HP:0200073 Respiratory insufficiency due to defective ciliary clearance OMIM:615505 SPAG1 6674 HP:0000007 Autosomal recessive inheritance OMIM:615505 SPAG1 6674 HP:0004469 Chronic bronchitis OMIM:615505 SPAG1 6674 HP:0012384 Rhinitis OMIM:615505 SPAG1 6674 HP:0000403 Recurrent otitis media OMIM:615505 SPAG1 6674 HP:0001696 Situs inversus totalis OMIM:615505 SPAG1 6674 HP:0002110 Bronchiectasis OMIM:138500 SLC6A20 54716 HP:0008672 Calcium oxalate nephrolithiasis OMIM:138500 SLC6A20 54716 HP:0000006 Autosomal dominant inheritance OMIM:138500 SLC6A20 54716 HP:0003108 Hyperglycinuria OMIM:138500 SLC36A2 153201 HP:0008672 Calcium oxalate nephrolithiasis OMIM:138500 SLC36A2 153201 HP:0000006 Autosomal dominant inheritance OMIM:138500 SLC36A2 153201 HP:0003108 Hyperglycinuria OMIM:138500 SLC6A19 340024 HP:0008672 Calcium oxalate nephrolithiasis OMIM:138500 SLC6A19 340024 HP:0000006 Autosomal dominant inheritance OMIM:138500 SLC6A19 340024 HP:0003108 Hyperglycinuria OMIM:604232 SPATA7 55812 HP:0000007 Autosomal recessive inheritance OMIM:604232 SPATA7 55812 HP:0000572 Visual loss OMIM:604232 SPATA7 55812 HP:0000639 Nystagmus OMIM:604232 SPATA7 55812 HP:0001133 Constricted visual fields OMIM:604232 SPATA7 55812 HP:0000662 Night blindness OMIM:217050 C6 729 HP:0000007 Autosomal recessive inheritance OMIM:217050 C6 729 HP:0001939 Abnormality of metabolism/homeostasis ORPHANET:300605 SPG11 80208 HP:0003202 Skeletal muscle atrophy ORPHANET:300605 SPG11 80208 HP:0000079 Abnormality of the urinary system ORPHANET:300605 SPG11 80208 HP:0003457 EMG abnormality ORPHANET:300605 SPG11 80208 HP:0002200 Pseudobulbar signs ORPHANET:300605 SPG11 80208 HP:0001288 Gait disturbance ORPHANET:300605 SPG11 80208 HP:0001276 Hypertonia ORPHANET:300605 SPG11 80208 HP:0007256 Abnormal pyramidal signs ORPHANET:300605 SPG11 80208 HP:0002167 Neurological speech impairment ORPHANET:300605 SPG11 80208 HP:0001347 Hyperreflexia ORPHANET:300605 FUS 2521 HP:0003202 Skeletal muscle atrophy ORPHANET:300605 FUS 2521 HP:0000079 Abnormality of the urinary system ORPHANET:300605 FUS 2521 HP:0003457 EMG abnormality ORPHANET:300605 FUS 2521 HP:0002200 Pseudobulbar signs ORPHANET:300605 FUS 2521 HP:0001288 Gait disturbance ORPHANET:300605 FUS 2521 HP:0001276 Hypertonia ORPHANET:300605 FUS 2521 HP:0007256 Abnormal pyramidal signs ORPHANET:300605 FUS 2521 HP:0002167 Neurological speech impairment ORPHANET:300605 FUS 2521 HP:0001347 Hyperreflexia ORPHANET:300605 ALS2 57679 HP:0003202 Skeletal muscle atrophy ORPHANET:300605 ALS2 57679 HP:0000079 Abnormality of the urinary system ORPHANET:300605 ALS2 57679 HP:0003457 EMG abnormality ORPHANET:300605 ALS2 57679 HP:0002200 Pseudobulbar signs ORPHANET:300605 ALS2 57679 HP:0001288 Gait disturbance ORPHANET:300605 ALS2 57679 HP:0001276 Hypertonia ORPHANET:300605 ALS2 57679 HP:0007256 Abnormal pyramidal signs ORPHANET:300605 ALS2 57679 HP:0002167 Neurological speech impairment ORPHANET:300605 ALS2 57679 HP:0001347 Hyperreflexia ORPHANET:300605 SIGMAR1 10280 HP:0003202 Skeletal muscle atrophy ORPHANET:300605 SIGMAR1 10280 HP:0000079 Abnormality of the urinary system ORPHANET:300605 SIGMAR1 10280 HP:0003457 EMG abnormality ORPHANET:300605 SIGMAR1 10280 HP:0002200 Pseudobulbar signs ORPHANET:300605 SIGMAR1 10280 HP:0001288 Gait disturbance ORPHANET:300605 SIGMAR1 10280 HP:0001276 Hypertonia ORPHANET:300605 SIGMAR1 10280 HP:0007256 Abnormal pyramidal signs ORPHANET:300605 SIGMAR1 10280 HP:0002167 Neurological speech impairment ORPHANET:300605 SIGMAR1 10280 HP:0001347 Hyperreflexia OMIM:613987 NHP2 55651 HP:0005528 Bone marrow hypocellularity OMIM:613987 NHP2 55651 HP:0002514 Cerebral calcification OMIM:613987 NHP2 55651 HP:0001394 Cirrhosis OMIM:613987 NHP2 55651 HP:0001249 Intellectual disability OMIM:613987 NHP2 55651 HP:0008404 Nail dystrophy OMIM:613987 NHP2 55651 HP:0002164 Nail dysplasia OMIM:613987 NHP2 55651 HP:0001510 Growth delay OMIM:613987 NHP2 55651 HP:0001873 Thrombocytopenia OMIM:613987 NHP2 55651 HP:0001876 Pancytopenia OMIM:613987 NHP2 55651 HP:0007427 Reticulated skin pigmentation OMIM:613987 NHP2 55651 HP:0000029 Testicular atrophy OMIM:613987 NHP2 55651 HP:0000007 Autosomal recessive inheritance OMIM:615158 UQCRB 7381 HP:0001943 Hypoglycemia OMIM:615158 UQCRB 7381 HP:0001942 Metabolic acidosis OMIM:615158 UQCRB 7381 HP:0000007 Autosomal recessive inheritance OMIM:613065 FLT3 2322 HP:0010982 Polygenic inheritance OMIM:613065 FLT3 2322 HP:0006721 Acute lymphatic leukemia OMIM:613065 BAX 581 HP:0010982 Polygenic inheritance OMIM:613065 BAX 581 HP:0006721 Acute lymphatic leukemia OMIM:613065 BCR 613 HP:0010982 Polygenic inheritance OMIM:613065 BCR 613 HP:0006721 Acute lymphatic leukemia OMIM:613065 NBN 4683 HP:0010982 Polygenic inheritance OMIM:613065 NBN 4683 HP:0006721 Acute lymphatic leukemia ORPHANET:893 BDNF 627 HP:0100543 Cognitive impairment ORPHANET:893 BDNF 627 HP:0004322 Short stature ORPHANET:893 BDNF 627 HP:0000028 Cryptorchidism ORPHANET:893 BDNF 627 HP:0000062 Ambiguous genitalia ORPHANET:893 BDNF 627 HP:0000505 Visual impairment ORPHANET:893 BDNF 627 HP:0100627 Displacement of the external urethral meatus ORPHANET:893 BDNF 627 HP:0000347 Micrognathia ORPHANET:893 BDNF 627 HP:0000501 Glaucoma ORPHANET:893 BDNF 627 HP:0001513 Obesity ORPHANET:893 BDNF 627 HP:0000508 Ptosis ORPHANET:893 BDNF 627 HP:0002650 Scoliosis ORPHANET:893 BDNF 627 HP:0000252 Microcephaly ORPHANET:893 BDNF 627 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:893 BDNF 627 HP:0000364 Hearing abnormality ORPHANET:893 BDNF 627 HP:0000518 Cataract ORPHANET:893 BDNF 627 HP:0000639 Nystagmus ORPHANET:893 BDNF 627 HP:0004299 Hernia of the abdominal wall ORPHANET:893 BDNF 627 HP:0000232 Everted lower lip vermilion ORPHANET:893 PAX6 5080 HP:0100543 Cognitive impairment ORPHANET:893 PAX6 5080 HP:0004322 Short stature ORPHANET:893 PAX6 5080 HP:0000028 Cryptorchidism ORPHANET:893 PAX6 5080 HP:0000062 Ambiguous genitalia ORPHANET:893 PAX6 5080 HP:0000505 Visual impairment ORPHANET:893 PAX6 5080 HP:0100627 Displacement of the external urethral meatus ORPHANET:893 PAX6 5080 HP:0000347 Micrognathia ORPHANET:893 PAX6 5080 HP:0000501 Glaucoma ORPHANET:893 PAX6 5080 HP:0001513 Obesity ORPHANET:893 PAX6 5080 HP:0000508 Ptosis ORPHANET:893 PAX6 5080 HP:0002650 Scoliosis ORPHANET:893 PAX6 5080 HP:0000252 Microcephaly ORPHANET:893 PAX6 5080 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:893 PAX6 5080 HP:0000364 Hearing abnormality ORPHANET:893 PAX6 5080 HP:0000518 Cataract ORPHANET:893 PAX6 5080 HP:0000639 Nystagmus ORPHANET:893 PAX6 5080 HP:0004299 Hernia of the abdominal wall ORPHANET:893 PAX6 5080 HP:0000232 Everted lower lip vermilion ORPHANET:893 WT1 7490 HP:0100543 Cognitive impairment ORPHANET:893 WT1 7490 HP:0004322 Short stature ORPHANET:893 WT1 7490 HP:0000028 Cryptorchidism ORPHANET:893 WT1 7490 HP:0000062 Ambiguous genitalia ORPHANET:893 WT1 7490 HP:0000505 Visual impairment ORPHANET:893 WT1 7490 HP:0100627 Displacement of the external urethral meatus ORPHANET:893 WT1 7490 HP:0000347 Micrognathia ORPHANET:893 WT1 7490 HP:0000501 Glaucoma ORPHANET:893 WT1 7490 HP:0001513 Obesity ORPHANET:893 WT1 7490 HP:0000508 Ptosis ORPHANET:893 WT1 7490 HP:0002650 Scoliosis ORPHANET:893 WT1 7490 HP:0000252 Microcephaly ORPHANET:893 WT1 7490 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:893 WT1 7490 HP:0000364 Hearing abnormality ORPHANET:893 WT1 7490 HP:0000518 Cataract ORPHANET:893 WT1 7490 HP:0000639 Nystagmus ORPHANET:893 WT1 7490 HP:0004299 Hernia of the abdominal wall ORPHANET:893 WT1 7490 HP:0000232 Everted lower lip vermilion OMIM:262650 GH1 2688 HP:0000839 Pituitary dwarfism OMIM:262650 GH1 2688 HP:0002750 Delayed skeletal maturation OMIM:262650 GH1 2688 HP:0001939 Abnormality of metabolism/homeostasis OMIM:262650 GH1 2688 HP:0000007 Autosomal recessive inheritance OMIM:610441 SLC34A2 10568 HP:0012215 Testicular microlithiasis OMIM:614129 CLPP 8192 HP:0000007 Autosomal recessive inheritance OMIM:614129 CLPP 8192 HP:0004322 Short stature OMIM:614129 CLPP 8192 HP:0000013 Hypoplasia of the uterus OMIM:614129 CLPP 8192 HP:0000407 Sensorineural hearing impairment OMIM:614129 CLPP 8192 HP:0000252 Microcephaly OMIM:614129 CLPP 8192 HP:0000815 Hypergonadotropic hypogonadism OMIM:614129 CLPP 8192 HP:0001250 Seizures OMIM:614129 CLPP 8192 HP:0000786 Primary amenorrhea OMIM:605387 CHMP4B 128866 HP:0007787 Posterior subcapsular cataract OMIM:605387 CHMP4B 128866 HP:0000006 Autosomal dominant inheritance OMIM:136000 SMARCAD1 56916 HP:0010765 Palmar hyperkeratosis OMIM:136000 SMARCAD1 56916 HP:0007455 Adermatoglyphia OMIM:136000 SMARCAD1 56916 HP:0000006 Autosomal dominant inheritance OMIM:136000 SMARCAD1 56916 HP:0001217 Clubbing OMIM:221770 TREM2 54209 HP:0000734 Disinhibition OMIM:221770 TREM2 54209 HP:0002354 Memory impairment OMIM:221770 TREM2 54209 HP:0002652 Skeletal dysplasia OMIM:221770 TREM2 54209 HP:0002653 Bone pain OMIM:221770 TREM2 54209 HP:0002119 Ventriculomegaly OMIM:221770 TREM2 54209 HP:0012062 Bone cyst OMIM:221770 TREM2 54209 HP:0002127 Abnormal upper motor neuron morphology OMIM:221770 TREM2 54209 HP:0002829 Arthralgia OMIM:221770 TREM2 54209 HP:0003487 Babinski sign OMIM:221770 TREM2 54209 HP:0000238 Hydrocephalus OMIM:221770 TREM2 54209 HP:0000657 Oculomotor apraxia OMIM:221770 TREM2 54209 HP:0002120 Cerebral cortical atrophy OMIM:221770 TREM2 54209 HP:0002488 Acute leukemia OMIM:221770 TREM2 54209 HP:0010524 Agnosia OMIM:221770 TREM2 54209 HP:0001257 Spasticity OMIM:221770 TREM2 54209 HP:0000007 Autosomal recessive inheritance OMIM:221770 TREM2 54209 HP:0001288 Gait disturbance OMIM:221770 TREM2 54209 HP:0005930 Abnormality of epiphysis morphology OMIM:221770 TREM2 54209 HP:0002171 Gliosis OMIM:221770 TREM2 54209 HP:0002186 Apraxia OMIM:221770 TREM2 54209 HP:0002353 EEG abnormality OMIM:221770 TREM2 54209 HP:0011096 Peripheral demyelination OMIM:221770 TREM2 54209 HP:0002476 Primitive reflexes (palmomental, snout, glabellar) OMIM:221770 TREM2 54209 HP:0002756 Pathologic fracture OMIM:221770 TREM2 54209 HP:0000757 Lack of insight OMIM:221770 TREM2 54209 HP:0002376 Developmental regression OMIM:221770 TREM2 54209 HP:0001336 Myoclonus OMIM:221770 TREM2 54209 HP:0002340 Caudate atrophy OMIM:221770 TREM2 54209 HP:0002059 Cerebral atrophy OMIM:221770 TREM2 54209 HP:0000751 Personality changes OMIM:221770 TREM2 54209 HP:0002079 Hypoplasia of the corpus callosum OMIM:221770 TREM2 54209 HP:0004349 Reduced bone mineral density OMIM:221770 TREM2 54209 HP:0001155 Abnormality of the hand OMIM:221770 TREM2 54209 HP:0000708 Behavioral abnormality OMIM:221770 TREM2 54209 HP:0009124 Abnormality of adipose tissue OMIM:221770 TREM2 54209 HP:0002352 Leukoencephalopathy OMIM:221770 TREM2 54209 HP:0002167 Neurological speech impairment OMIM:221770 TREM2 54209 HP:0001250 Seizures OMIM:221770 TREM2 54209 HP:0002514 Cerebral calcification OMIM:221770 TREM2 54209 HP:0003447 Axonal loss OMIM:221770 TREM2 54209 HP:0000020 Urinary incontinence OMIM:221770 TREM2 54209 HP:0001276 Hypertonia OMIM:221770 TREM2 54209 HP:0000718 Aggressive behavior OMIM:221770 TREM2 54209 HP:0000727 Frontal lobe dementia OMIM:221770 TREM2 54209 HP:0001376 Limitation of joint mobility OMIM:221770 TREM2 54209 HP:0002135 Basal ganglia calcification OMIM:221770 TREM2 54209 HP:0001760 Abnormality of the foot OMIM:221770 TREM2 54209 HP:0002072 Chorea OMIM:221770 TREM2 54209 HP:0002012 Abnormality of the abdominal organs OMIM:221770 TYROBP 7305 HP:0000734 Disinhibition OMIM:221770 TYROBP 7305 HP:0002354 Memory impairment OMIM:221770 TYROBP 7305 HP:0002652 Skeletal dysplasia OMIM:221770 TYROBP 7305 HP:0002653 Bone pain OMIM:221770 TYROBP 7305 HP:0002119 Ventriculomegaly OMIM:221770 TYROBP 7305 HP:0012062 Bone cyst OMIM:221770 TYROBP 7305 HP:0002127 Abnormal upper motor neuron morphology OMIM:221770 TYROBP 7305 HP:0002829 Arthralgia OMIM:221770 TYROBP 7305 HP:0003487 Babinski sign OMIM:221770 TYROBP 7305 HP:0000238 Hydrocephalus OMIM:221770 TYROBP 7305 HP:0000657 Oculomotor apraxia OMIM:221770 TYROBP 7305 HP:0002120 Cerebral cortical atrophy OMIM:221770 TYROBP 7305 HP:0002488 Acute leukemia OMIM:221770 TYROBP 7305 HP:0010524 Agnosia OMIM:221770 TYROBP 7305 HP:0001257 Spasticity OMIM:221770 TYROBP 7305 HP:0000007 Autosomal recessive inheritance OMIM:221770 TYROBP 7305 HP:0001288 Gait disturbance OMIM:221770 TYROBP 7305 HP:0005930 Abnormality of epiphysis morphology OMIM:221770 TYROBP 7305 HP:0002171 Gliosis OMIM:221770 TYROBP 7305 HP:0002186 Apraxia OMIM:221770 TYROBP 7305 HP:0002353 EEG abnormality OMIM:221770 TYROBP 7305 HP:0011096 Peripheral demyelination OMIM:221770 TYROBP 7305 HP:0002476 Primitive reflexes (palmomental, snout, glabellar) OMIM:221770 TYROBP 7305 HP:0002756 Pathologic fracture OMIM:221770 TYROBP 7305 HP:0000757 Lack of insight OMIM:221770 TYROBP 7305 HP:0002376 Developmental regression OMIM:221770 TYROBP 7305 HP:0001336 Myoclonus OMIM:221770 TYROBP 7305 HP:0002340 Caudate atrophy OMIM:221770 TYROBP 7305 HP:0002059 Cerebral atrophy OMIM:221770 TYROBP 7305 HP:0000751 Personality changes OMIM:221770 TYROBP 7305 HP:0002079 Hypoplasia of the corpus callosum OMIM:221770 TYROBP 7305 HP:0004349 Reduced bone mineral density OMIM:221770 TYROBP 7305 HP:0001155 Abnormality of the hand OMIM:221770 TYROBP 7305 HP:0000708 Behavioral abnormality OMIM:221770 TYROBP 7305 HP:0009124 Abnormality of adipose tissue OMIM:221770 TYROBP 7305 HP:0002352 Leukoencephalopathy OMIM:221770 TYROBP 7305 HP:0002167 Neurological speech impairment OMIM:221770 TYROBP 7305 HP:0001250 Seizures OMIM:221770 TYROBP 7305 HP:0002514 Cerebral calcification OMIM:221770 TYROBP 7305 HP:0003447 Axonal loss OMIM:221770 TYROBP 7305 HP:0000020 Urinary incontinence OMIM:221770 TYROBP 7305 HP:0001276 Hypertonia OMIM:221770 TYROBP 7305 HP:0000718 Aggressive behavior OMIM:221770 TYROBP 7305 HP:0000727 Frontal lobe dementia OMIM:221770 TYROBP 7305 HP:0001376 Limitation of joint mobility OMIM:221770 TYROBP 7305 HP:0002135 Basal ganglia calcification OMIM:221770 TYROBP 7305 HP:0001760 Abnormality of the foot OMIM:221770 TYROBP 7305 HP:0002072 Chorea OMIM:221770 TYROBP 7305 HP:0002012 Abnormality of the abdominal organs OMIM:605589 MED25 81857 HP:0003693 Distal amyotrophy OMIM:605589 MED25 81857 HP:0002460 Distal muscle weakness OMIM:605589 MED25 81857 HP:0003431 Decreased motor nerve conduction velocity OMIM:605589 MED25 81857 HP:0001284 Areflexia OMIM:605589 MED25 81857 HP:0001265 Hyporeflexia OMIM:605589 MED25 81857 HP:0002936 Distal sensory impairment OMIM:605589 MED25 81857 HP:0000007 Autosomal recessive inheritance OMIM:605589 MED25 81857 HP:0003581 Adult onset OMIM:158810 COL6A1 1291 HP:0003198 Myopathy OMIM:158810 COL6A1 1291 HP:0003236 Elevated serum creatine phosphokinase OMIM:158810 COL6A1 1291 HP:0001626 Abnormality of the cardiovascular system OMIM:158810 COL6A1 1291 HP:0003677 Slow progression OMIM:158810 COL6A1 1291 HP:0000006 Autosomal dominant inheritance OMIM:158810 COL6A1 1291 HP:0003457 EMG abnormality OMIM:158810 COL6A1 1291 HP:0003701 Proximal muscle weakness OMIM:158810 COL6A1 1291 HP:0100490 Camptodactyly of finger OMIM:158810 COL6A1 1291 HP:0001558 Decreased fetal movement OMIM:158810 COL6A1 1291 HP:0004325 Decreased body weight OMIM:158810 COL6A1 1291 HP:0001319 Neonatal hypotonia OMIM:158810 COL6A1 1291 HP:0001270 Motor delay OMIM:158810 COL6A1 1291 HP:0006466 Ankle contracture OMIM:158810 COL6A1 1291 HP:0005988 Congenital muscular torticollis OMIM:158810 COL6A1 1291 HP:0000007 Autosomal recessive inheritance OMIM:158810 COL6A1 1291 HP:0002987 Elbow flexion contracture OMIM:158810 COL6A1 1291 HP:0002460 Distal muscle weakness OMIM:158810 COL6A1 1291 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:158810 COL6A1 1291 HP:0003325 Limb-girdle muscle weakness OMIM:158810 COL6A1 1291 HP:0003828 Variable expressivity OMIM:158810 COL6A1 1291 HP:0000473 Torticollis OMIM:158810 COL6A1 1291 HP:0001376 Limitation of joint mobility OMIM:158810 COL6A2 1292 HP:0003198 Myopathy OMIM:158810 COL6A2 1292 HP:0003236 Elevated serum creatine phosphokinase OMIM:158810 COL6A2 1292 HP:0001626 Abnormality of the cardiovascular system OMIM:158810 COL6A2 1292 HP:0003677 Slow progression OMIM:158810 COL6A2 1292 HP:0000006 Autosomal dominant inheritance OMIM:158810 COL6A2 1292 HP:0003457 EMG abnormality OMIM:158810 COL6A2 1292 HP:0003701 Proximal muscle weakness OMIM:158810 COL6A2 1292 HP:0100490 Camptodactyly of finger OMIM:158810 COL6A2 1292 HP:0001558 Decreased fetal movement OMIM:158810 COL6A2 1292 HP:0004325 Decreased body weight OMIM:158810 COL6A2 1292 HP:0001319 Neonatal hypotonia OMIM:158810 COL6A2 1292 HP:0001270 Motor delay OMIM:158810 COL6A2 1292 HP:0006466 Ankle contracture OMIM:158810 COL6A2 1292 HP:0005988 Congenital muscular torticollis OMIM:158810 COL6A2 1292 HP:0000007 Autosomal recessive inheritance OMIM:158810 COL6A2 1292 HP:0002987 Elbow flexion contracture OMIM:158810 COL6A2 1292 HP:0002460 Distal muscle weakness OMIM:158810 COL6A2 1292 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:158810 COL6A2 1292 HP:0003325 Limb-girdle muscle weakness OMIM:158810 COL6A2 1292 HP:0003828 Variable expressivity OMIM:158810 COL6A2 1292 HP:0000473 Torticollis OMIM:158810 COL6A2 1292 HP:0001376 Limitation of joint mobility OMIM:158810 COL6A3 1293 HP:0003198 Myopathy OMIM:158810 COL6A3 1293 HP:0003236 Elevated serum creatine phosphokinase OMIM:158810 COL6A3 1293 HP:0001626 Abnormality of the cardiovascular system OMIM:158810 COL6A3 1293 HP:0003677 Slow progression OMIM:158810 COL6A3 1293 HP:0000006 Autosomal dominant inheritance OMIM:158810 COL6A3 1293 HP:0003457 EMG abnormality OMIM:158810 COL6A3 1293 HP:0003701 Proximal muscle weakness OMIM:158810 COL6A3 1293 HP:0100490 Camptodactyly of finger OMIM:158810 COL6A3 1293 HP:0001558 Decreased fetal movement OMIM:158810 COL6A3 1293 HP:0004325 Decreased body weight OMIM:158810 COL6A3 1293 HP:0001319 Neonatal hypotonia OMIM:158810 COL6A3 1293 HP:0001270 Motor delay OMIM:158810 COL6A3 1293 HP:0006466 Ankle contracture OMIM:158810 COL6A3 1293 HP:0005988 Congenital muscular torticollis OMIM:158810 COL6A3 1293 HP:0000007 Autosomal recessive inheritance OMIM:158810 COL6A3 1293 HP:0002987 Elbow flexion contracture OMIM:158810 COL6A3 1293 HP:0002460 Distal muscle weakness OMIM:158810 COL6A3 1293 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:158810 COL6A3 1293 HP:0003325 Limb-girdle muscle weakness OMIM:158810 COL6A3 1293 HP:0003828 Variable expressivity OMIM:158810 COL6A3 1293 HP:0000473 Torticollis OMIM:158810 COL6A3 1293 HP:0001376 Limitation of joint mobility OMIM:614474 GATA6 2627 HP:0000006 Autosomal dominant inheritance OMIM:614474 GATA6 2627 HP:0006695 Atrioventricular canal defect OMIM:614474 GATA6 2627 HP:0011623 Muscular ventricular septal defect OMIM:261500 EPX 8288 HP:0000007 Autosomal recessive inheritance OMIM:261500 EPX 8288 HP:0001879 Abnormality of eosinophils ORPHANET:974 DOCK6 57572 HP:0004374 Hemiplegia/hemiparesis ORPHANET:974 DOCK6 57572 HP:0010624 Aplastic/hypoplastic toenail ORPHANET:974 DOCK6 57572 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:974 DOCK6 57572 HP:0002132 Porencephaly ORPHANET:974 DOCK6 57572 HP:0001622 Premature birth ORPHANET:974 DOCK6 57572 HP:0100543 Cognitive impairment ORPHANET:974 DOCK6 57572 HP:0000238 Hydrocephalus ORPHANET:974 DOCK6 57572 HP:0001541 Ascites ORPHANET:974 DOCK6 57572 HP:0001394 Cirrhosis ORPHANET:974 DOCK6 57572 HP:0009776 Adactyly ORPHANET:974 DOCK6 57572 HP:0001156 Brachydactyly syndrome ORPHANET:974 DOCK6 57572 HP:0006101 Finger syndactyly ORPHANET:974 DOCK6 57572 HP:0000518 Cataract ORPHANET:974 DOCK6 57572 HP:0001636 Tetralogy of Fallot ORPHANET:974 DOCK6 57572 HP:0000486 Strabismus ORPHANET:974 DOCK6 57572 HP:0002040 Esophageal varix ORPHANET:974 DOCK6 57572 HP:0002353 EEG abnormality ORPHANET:974 DOCK6 57572 HP:0001276 Hypertonia ORPHANET:974 DOCK6 57572 HP:0009882 Short distal phalanx of finger ORPHANET:974 DOCK6 57572 HP:0001362 Skull defect ORPHANET:974 DOCK6 57572 HP:0001171 Split hand ORPHANET:974 DOCK6 57572 HP:0002239 Gastrointestinal hemorrhage ORPHANET:974 DOCK6 57572 HP:0002612 Congenital hepatic fibrosis ORPHANET:974 DOCK6 57572 HP:0000965 Cutis marmorata ORPHANET:974 DOCK6 57572 HP:0001798 Anonychia ORPHANET:974 DOCK6 57572 HP:0004936 Venous thrombosis ORPHANET:974 DOCK6 57572 HP:0001596 Alopecia ORPHANET:974 DOCK6 57572 HP:0004050 Absent hand ORPHANET:974 DOCK6 57572 HP:0001250 Seizures ORPHANET:974 DOCK6 57572 HP:0001641 Abnormality of the pulmonary valve ORPHANET:974 DOCK6 57572 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:974 DOCK6 57572 HP:0002084 Encephalocele ORPHANET:974 DOCK6 57572 HP:0001882 Leukopenia ORPHANET:974 DOCK6 57572 HP:0001883 Talipes ORPHANET:974 DOCK6 57572 HP:0001409 Portal hypertension ORPHANET:974 DOCK6 57572 HP:0001163 Abnormality of the metacarpal bones ORPHANET:974 DOCK6 57572 HP:0001873 Thrombocytopenia ORPHANET:974 DOCK6 57572 HP:0002092 Pulmonary hypertension ORPHANET:974 EOGT 285203 HP:0004374 Hemiplegia/hemiparesis ORPHANET:974 EOGT 285203 HP:0010624 Aplastic/hypoplastic toenail ORPHANET:974 EOGT 285203 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:974 EOGT 285203 HP:0002132 Porencephaly ORPHANET:974 EOGT 285203 HP:0001622 Premature birth ORPHANET:974 EOGT 285203 HP:0100543 Cognitive impairment ORPHANET:974 EOGT 285203 HP:0000238 Hydrocephalus ORPHANET:974 EOGT 285203 HP:0001541 Ascites ORPHANET:974 EOGT 285203 HP:0001394 Cirrhosis ORPHANET:974 EOGT 285203 HP:0009776 Adactyly ORPHANET:974 EOGT 285203 HP:0001156 Brachydactyly syndrome ORPHANET:974 EOGT 285203 HP:0006101 Finger syndactyly ORPHANET:974 EOGT 285203 HP:0000518 Cataract ORPHANET:974 EOGT 285203 HP:0001636 Tetralogy of Fallot ORPHANET:974 EOGT 285203 HP:0000486 Strabismus ORPHANET:974 EOGT 285203 HP:0002040 Esophageal varix ORPHANET:974 EOGT 285203 HP:0002353 EEG abnormality ORPHANET:974 EOGT 285203 HP:0001276 Hypertonia ORPHANET:974 EOGT 285203 HP:0009882 Short distal phalanx of finger ORPHANET:974 EOGT 285203 HP:0001362 Skull defect ORPHANET:974 EOGT 285203 HP:0001171 Split hand ORPHANET:974 EOGT 285203 HP:0002239 Gastrointestinal hemorrhage ORPHANET:974 EOGT 285203 HP:0002612 Congenital hepatic fibrosis ORPHANET:974 EOGT 285203 HP:0000965 Cutis marmorata ORPHANET:974 EOGT 285203 HP:0001798 Anonychia ORPHANET:974 EOGT 285203 HP:0004936 Venous thrombosis ORPHANET:974 EOGT 285203 HP:0001596 Alopecia ORPHANET:974 EOGT 285203 HP:0004050 Absent hand ORPHANET:974 EOGT 285203 HP:0001250 Seizures ORPHANET:974 EOGT 285203 HP:0001641 Abnormality of the pulmonary valve ORPHANET:974 EOGT 285203 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:974 EOGT 285203 HP:0002084 Encephalocele ORPHANET:974 EOGT 285203 HP:0001882 Leukopenia ORPHANET:974 EOGT 285203 HP:0001883 Talipes ORPHANET:974 EOGT 285203 HP:0001409 Portal hypertension ORPHANET:974 EOGT 285203 HP:0001163 Abnormality of the metacarpal bones ORPHANET:974 EOGT 285203 HP:0001873 Thrombocytopenia ORPHANET:974 EOGT 285203 HP:0002092 Pulmonary hypertension ORPHANET:974 NOTCH1 4851 HP:0004374 Hemiplegia/hemiparesis ORPHANET:974 NOTCH1 4851 HP:0010624 Aplastic/hypoplastic toenail ORPHANET:974 NOTCH1 4851 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:974 NOTCH1 4851 HP:0002132 Porencephaly ORPHANET:974 NOTCH1 4851 HP:0001622 Premature birth ORPHANET:974 NOTCH1 4851 HP:0100543 Cognitive impairment ORPHANET:974 NOTCH1 4851 HP:0000238 Hydrocephalus ORPHANET:974 NOTCH1 4851 HP:0001541 Ascites ORPHANET:974 NOTCH1 4851 HP:0001394 Cirrhosis ORPHANET:974 NOTCH1 4851 HP:0009776 Adactyly ORPHANET:974 NOTCH1 4851 HP:0001156 Brachydactyly syndrome ORPHANET:974 NOTCH1 4851 HP:0006101 Finger syndactyly ORPHANET:974 NOTCH1 4851 HP:0000518 Cataract ORPHANET:974 NOTCH1 4851 HP:0001636 Tetralogy of Fallot ORPHANET:974 NOTCH1 4851 HP:0000486 Strabismus ORPHANET:974 NOTCH1 4851 HP:0002040 Esophageal varix ORPHANET:974 NOTCH1 4851 HP:0002353 EEG abnormality ORPHANET:974 NOTCH1 4851 HP:0001276 Hypertonia ORPHANET:974 NOTCH1 4851 HP:0009882 Short distal phalanx of finger ORPHANET:974 NOTCH1 4851 HP:0001362 Skull defect ORPHANET:974 NOTCH1 4851 HP:0001171 Split hand ORPHANET:974 NOTCH1 4851 HP:0002239 Gastrointestinal hemorrhage ORPHANET:974 NOTCH1 4851 HP:0002612 Congenital hepatic fibrosis ORPHANET:974 NOTCH1 4851 HP:0000965 Cutis marmorata ORPHANET:974 NOTCH1 4851 HP:0001798 Anonychia ORPHANET:974 NOTCH1 4851 HP:0004936 Venous thrombosis ORPHANET:974 NOTCH1 4851 HP:0001596 Alopecia ORPHANET:974 NOTCH1 4851 HP:0004050 Absent hand ORPHANET:974 NOTCH1 4851 HP:0001250 Seizures ORPHANET:974 NOTCH1 4851 HP:0001641 Abnormality of the pulmonary valve ORPHANET:974 NOTCH1 4851 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:974 NOTCH1 4851 HP:0002084 Encephalocele ORPHANET:974 NOTCH1 4851 HP:0001882 Leukopenia ORPHANET:974 NOTCH1 4851 HP:0001883 Talipes ORPHANET:974 NOTCH1 4851 HP:0001409 Portal hypertension ORPHANET:974 NOTCH1 4851 HP:0001163 Abnormality of the metacarpal bones ORPHANET:974 NOTCH1 4851 HP:0001873 Thrombocytopenia ORPHANET:974 NOTCH1 4851 HP:0002092 Pulmonary hypertension ORPHANET:974 RBPJ 3516 HP:0004374 Hemiplegia/hemiparesis ORPHANET:974 RBPJ 3516 HP:0010624 Aplastic/hypoplastic toenail ORPHANET:974 RBPJ 3516 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:974 RBPJ 3516 HP:0002132 Porencephaly ORPHANET:974 RBPJ 3516 HP:0001622 Premature birth ORPHANET:974 RBPJ 3516 HP:0100543 Cognitive impairment ORPHANET:974 RBPJ 3516 HP:0000238 Hydrocephalus ORPHANET:974 RBPJ 3516 HP:0001541 Ascites ORPHANET:974 RBPJ 3516 HP:0001394 Cirrhosis ORPHANET:974 RBPJ 3516 HP:0009776 Adactyly ORPHANET:974 RBPJ 3516 HP:0001156 Brachydactyly syndrome ORPHANET:974 RBPJ 3516 HP:0006101 Finger syndactyly ORPHANET:974 RBPJ 3516 HP:0000518 Cataract ORPHANET:974 RBPJ 3516 HP:0001636 Tetralogy of Fallot ORPHANET:974 RBPJ 3516 HP:0000486 Strabismus ORPHANET:974 RBPJ 3516 HP:0002040 Esophageal varix ORPHANET:974 RBPJ 3516 HP:0002353 EEG abnormality ORPHANET:974 RBPJ 3516 HP:0001276 Hypertonia ORPHANET:974 RBPJ 3516 HP:0009882 Short distal phalanx of finger ORPHANET:974 RBPJ 3516 HP:0001362 Skull defect ORPHANET:974 RBPJ 3516 HP:0001171 Split hand ORPHANET:974 RBPJ 3516 HP:0002239 Gastrointestinal hemorrhage ORPHANET:974 RBPJ 3516 HP:0002612 Congenital hepatic fibrosis ORPHANET:974 RBPJ 3516 HP:0000965 Cutis marmorata ORPHANET:974 RBPJ 3516 HP:0001798 Anonychia ORPHANET:974 RBPJ 3516 HP:0004936 Venous thrombosis ORPHANET:974 RBPJ 3516 HP:0001596 Alopecia ORPHANET:974 RBPJ 3516 HP:0004050 Absent hand ORPHANET:974 RBPJ 3516 HP:0001250 Seizures ORPHANET:974 RBPJ 3516 HP:0001641 Abnormality of the pulmonary valve ORPHANET:974 RBPJ 3516 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:974 RBPJ 3516 HP:0002084 Encephalocele ORPHANET:974 RBPJ 3516 HP:0001882 Leukopenia ORPHANET:974 RBPJ 3516 HP:0001883 Talipes ORPHANET:974 RBPJ 3516 HP:0001409 Portal hypertension ORPHANET:974 RBPJ 3516 HP:0001163 Abnormality of the metacarpal bones ORPHANET:974 RBPJ 3516 HP:0001873 Thrombocytopenia ORPHANET:974 RBPJ 3516 HP:0002092 Pulmonary hypertension ORPHANET:974 ARHGAP31 57514 HP:0004374 Hemiplegia/hemiparesis ORPHANET:974 ARHGAP31 57514 HP:0010624 Aplastic/hypoplastic toenail ORPHANET:974 ARHGAP31 57514 HP:0008065 Aplasia/Hypoplasia of the skin ORPHANET:974 ARHGAP31 57514 HP:0002132 Porencephaly ORPHANET:974 ARHGAP31 57514 HP:0001622 Premature birth ORPHANET:974 ARHGAP31 57514 HP:0100543 Cognitive impairment ORPHANET:974 ARHGAP31 57514 HP:0000238 Hydrocephalus ORPHANET:974 ARHGAP31 57514 HP:0001541 Ascites ORPHANET:974 ARHGAP31 57514 HP:0001394 Cirrhosis ORPHANET:974 ARHGAP31 57514 HP:0009776 Adactyly ORPHANET:974 ARHGAP31 57514 HP:0001156 Brachydactyly syndrome ORPHANET:974 ARHGAP31 57514 HP:0006101 Finger syndactyly ORPHANET:974 ARHGAP31 57514 HP:0000518 Cataract ORPHANET:974 ARHGAP31 57514 HP:0001636 Tetralogy of Fallot ORPHANET:974 ARHGAP31 57514 HP:0000486 Strabismus ORPHANET:974 ARHGAP31 57514 HP:0002040 Esophageal varix ORPHANET:974 ARHGAP31 57514 HP:0002353 EEG abnormality ORPHANET:974 ARHGAP31 57514 HP:0001276 Hypertonia ORPHANET:974 ARHGAP31 57514 HP:0009882 Short distal phalanx of finger ORPHANET:974 ARHGAP31 57514 HP:0001362 Skull defect ORPHANET:974 ARHGAP31 57514 HP:0001171 Split hand ORPHANET:974 ARHGAP31 57514 HP:0002239 Gastrointestinal hemorrhage ORPHANET:974 ARHGAP31 57514 HP:0002612 Congenital hepatic fibrosis ORPHANET:974 ARHGAP31 57514 HP:0000965 Cutis marmorata ORPHANET:974 ARHGAP31 57514 HP:0001798 Anonychia ORPHANET:974 ARHGAP31 57514 HP:0004936 Venous thrombosis ORPHANET:974 ARHGAP31 57514 HP:0001596 Alopecia ORPHANET:974 ARHGAP31 57514 HP:0004050 Absent hand ORPHANET:974 ARHGAP31 57514 HP:0001250 Seizures ORPHANET:974 ARHGAP31 57514 HP:0001641 Abnormality of the pulmonary valve ORPHANET:974 ARHGAP31 57514 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:974 ARHGAP31 57514 HP:0002084 Encephalocele ORPHANET:974 ARHGAP31 57514 HP:0001882 Leukopenia ORPHANET:974 ARHGAP31 57514 HP:0001883 Talipes ORPHANET:974 ARHGAP31 57514 HP:0001409 Portal hypertension ORPHANET:974 ARHGAP31 57514 HP:0001163 Abnormality of the metacarpal bones ORPHANET:974 ARHGAP31 57514 HP:0001873 Thrombocytopenia ORPHANET:974 ARHGAP31 57514 HP:0002092 Pulmonary hypertension OMIM:615551 SCN10A 6336 HP:0000006 Autosomal dominant inheritance OMIM:615551 SCN10A 6336 HP:0003581 Adult onset OMIM:255960 PRKAR1A 5573 HP:0006691 Pulmonic valve myxoma OMIM:255960 PRKAR1A 5573 HP:0006689 Bacterial endocarditis OMIM:255960 PRKAR1A 5573 HP:0000007 Autosomal recessive inheritance OMIM:603383 ASB10 136371 HP:0007906 Increased intraocular pressure OMIM:603383 ASB10 136371 HP:0007854 Glaucomatous visual field defect OMIM:603383 ASB10 136371 HP:0012796 Increased cup-to-disc ratio OMIM:603383 ASB10 136371 HP:0000006 Autosomal dominant inheritance OMIM:603383 ASB10 136371 HP:0012108 Primary open angle glaucoma OMIM:308240 SH2D1A 4068 HP:0002240 Hepatomegaly OMIM:308240 SH2D1A 4068 HP:0002716 Lymphadenopathy OMIM:308240 SH2D1A 4068 HP:0100776 Recurrent pharyngitis OMIM:308240 SH2D1A 4068 HP:0002721 Immunodeficiency OMIM:308240 SH2D1A 4068 HP:0001287 Meningitis OMIM:308240 SH2D1A 4068 HP:0001744 Splenomegaly OMIM:308240 SH2D1A 4068 HP:0002383 Encephalitis OMIM:308240 SH2D1A 4068 HP:0004315 IgG deficiency OMIM:308240 SH2D1A 4068 HP:0003496 Increased IgM level OMIM:308240 SH2D1A 4068 HP:0001876 Pancytopenia OMIM:308240 SH2D1A 4068 HP:0001419 X-linked recessive inheritance OMIM:308240 SH2D1A 4068 HP:0004787 Fulminant hepatitis OMIM:308240 SH2D1A 4068 HP:0001903 Anemia OMIM:308240 SH2D1A 4068 HP:0001873 Thrombocytopenia OMIM:308240 SH2D1A 4068 HP:0012178 Reduced natural killer cell activity OMIM:308240 SH2D1A 4068 HP:0002480 Hepatic encephalopathy OMIM:308240 SH2D1A 4068 HP:0002665 Lymphoma OMIM:614037 LTC4S 4056 HP:0001252 Muscular hypotonia OMIM:614037 LTC4S 4056 HP:0001522 Death in infancy OMIM:614037 LTC4S 4056 HP:0001531 Failure to thrive in infancy OMIM:614037 LTC4S 4056 HP:0001263 Global developmental delay OMIM:614037 LTC4S 4056 HP:0000252 Microcephaly OMIM:614037 LTC4S 4056 HP:0000007 Autosomal recessive inheritance OMIM:610256 FOXE3 2301 HP:0007707 Congenital primary aphakia OMIM:610256 FOXE3 2301 HP:0007779 Anterior segment of eye aplasia OMIM:610256 FOXE3 2301 HP:0000526 Aniridia OMIM:610256 FOXE3 2301 HP:0000568 Microphthalmos OMIM:610256 FOXE3 2301 HP:0000647 Sclerocornea OMIM:610256 FOXE3 2301 HP:0000007 Autosomal recessive inheritance ORPHANET:47 BTK 695 HP:0002014 Diarrhea ORPHANET:47 BTK 695 HP:0100838 Recurrent cutaneous abscess formation ORPHANET:47 BTK 695 HP:0004322 Short stature ORPHANET:47 BTK 695 HP:0002024 Malabsorption ORPHANET:47 BTK 695 HP:0001392 Abnormality of the liver ORPHANET:47 BTK 695 HP:0002960 Autoimmunity ORPHANET:47 BTK 695 HP:0001053 Hypopigmented skin patches ORPHANET:47 BTK 695 HP:0002205 Recurrent respiratory infections ORPHANET:47 BTK 695 HP:0001287 Meningitis ORPHANET:47 BTK 695 HP:0001824 Weight loss ORPHANET:47 BTK 695 HP:0200042 Skin ulcer ORPHANET:47 BTK 695 HP:0100533 Inflammatory abnormality of the eye ORPHANET:47 BTK 695 HP:0001873 Thrombocytopenia ORPHANET:47 BTK 695 HP:0001369 Arthritis ORPHANET:47 BTK 695 HP:0100806 Sepsis ORPHANET:47 BTK 695 HP:0004370 Abnormality of temperature regulation ORPHANET:47 BTK 695 HP:0000246 Sinusitis ORPHANET:47 BTK 695 HP:0000988 Skin rash ORPHANET:47 BTK 695 HP:0100658 Cellulitis ORPHANET:47 BTK 695 HP:0100765 Abnormality of the tonsils ORPHANET:47 BTK 695 HP:0001903 Anemia ORPHANET:47 BTK 695 HP:0000388 Otitis media ORPHANET:47 BTK 695 HP:0001874 Abnormality of neutrophils ORPHANET:47 BTK 695 HP:0004313 Hypogammaglobulinemia ORPHANET:47 BTK 695 HP:0002754 Osteomyelitis ORPHANET:47 BTK 695 HP:0001596 Alopecia OMIM:300755 BTK 695 HP:0002383 Encephalitis OMIM:300755 BTK 695 HP:0002664 Neoplasm OMIM:300755 BTK 695 HP:0000999 Pyoderma OMIM:300755 BTK 695 HP:0000024 Prostatitis OMIM:300755 BTK 695 HP:0001412 Enteroviral hepatitis OMIM:300755 BTK 695 HP:0000010 Recurrent urinary tract infections OMIM:300755 BTK 695 HP:0000388 Otitis media OMIM:300755 BTK 695 HP:0000246 Sinusitis OMIM:300755 BTK 695 HP:0001287 Meningitis OMIM:300755 BTK 695 HP:0001419 X-linked recessive inheritance OMIM:300755 BTK 695 HP:0002090 Pneumonia OMIM:300755 BTK 695 HP:0002732 Lymph node hypoplasia OMIM:300755 BTK 695 HP:0001648 Cor pulmonale OMIM:300755 BTK 695 HP:0003095 Septic arthritis OMIM:300755 BTK 695 HP:0003729 Enteroviral dermatomyositis syndrome OMIM:300755 BTK 695 HP:0000509 Conjunctivitis OMIM:300755 BTK 695 HP:0002014 Diarrhea OMIM:300755 BTK 695 HP:0000031 Epididymitis OMIM:300755 BTK 695 HP:0004432 Agammaglobulinemia OMIM:300755 BTK 695 HP:0000365 Hearing impairment OMIM:300755 BTK 695 HP:0000750 Delayed speech and language development OMIM:609464 NOD2 64127 HP:0012220 Non-caseating epithelioid cell granulomatosis OMIM:609464 NOD2 64127 HP:0000006 Autosomal dominant inheritance ORPHANET:221016 RECQL4 9401 HP:0011362 Abnormal hair quantity ORPHANET:221016 RECQL4 9401 HP:0009601 Aplasia/Hypoplasia of the thumb ORPHANET:221016 RECQL4 9401 HP:0004349 Reduced bone mineral density ORPHANET:221016 RECQL4 9401 HP:0100242 Sarcoma ORPHANET:221016 RECQL4 9401 HP:0002007 Frontal bossing ORPHANET:221016 RECQL4 9401 HP:0000534 Abnormality of the eyebrow ORPHANET:221016 RECQL4 9401 HP:0001597 Abnormality of the nail ORPHANET:221016 RECQL4 9401 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:221016 RECQL4 9401 HP:0000078 Abnormality of the genital system ORPHANET:221016 RECQL4 9401 HP:0008069 Neoplasm of the skin ORPHANET:221016 RECQL4 9401 HP:0001903 Anemia ORPHANET:221016 RECQL4 9401 HP:0007495 Prematurely aged appearance ORPHANET:221016 RECQL4 9401 HP:0002863 Myelodysplasia ORPHANET:221016 RECQL4 9401 HP:0000962 Hyperkeratosis ORPHANET:221016 RECQL4 9401 HP:0000366 Abnormality of the nose ORPHANET:221016 RECQL4 9401 HP:0000164 Abnormality of the teeth ORPHANET:221016 RECQL4 9401 HP:0002024 Malabsorption ORPHANET:221016 RECQL4 9401 HP:0001874 Abnormality of neutrophils ORPHANET:221016 RECQL4 9401 HP:0002017 Nausea and vomiting ORPHANET:221016 RECQL4 9401 HP:0000518 Cataract ORPHANET:221016 RECQL4 9401 HP:0001029 Poikiloderma OMIM:613672 MTPAP 55149 HP:0003487 Babinski sign OMIM:613672 MTPAP 55149 HP:0002313 Spastic paraparesis OMIM:613672 MTPAP 55149 HP:0002497 Spastic ataxia OMIM:613672 MTPAP 55149 HP:0001265 Hyporeflexia OMIM:613672 MTPAP 55149 HP:0000750 Delayed speech and language development OMIM:613672 MTPAP 55149 HP:0003677 Slow progression OMIM:613672 MTPAP 55149 HP:0000712 Emotional lability OMIM:613672 MTPAP 55149 HP:0000648 Optic atrophy OMIM:613672 MTPAP 55149 HP:0000007 Autosomal recessive inheritance OMIM:613672 MTPAP 55149 HP:0001260 Dysarthria OMIM:613672 MTPAP 55149 HP:0000639 Nystagmus OMIM:614201 GP6 51206 HP:0000007 Autosomal recessive inheritance OMIM:614201 GP6 51206 HP:0000421 Epistaxis OMIM:614201 GP6 51206 HP:0000978 Bruising susceptibility OMIM:614201 GP6 51206 HP:0000132 Menorrhagia OMIM:614201 GP6 51206 HP:0003828 Variable expressivity OMIM:614201 GP6 51206 HP:0003593 Infantile onset OMIM:614201 GP6 51206 HP:0003010 Prolonged bleeding time OMIM:300695 FHL1 2273 HP:0003202 Skeletal muscle atrophy OMIM:300695 FHL1 2273 HP:0011675 Arrhythmia OMIM:300695 FHL1 2273 HP:0001265 Hyporeflexia OMIM:300695 FHL1 2273 HP:0001423 X-linked dominant inheritance OMIM:300695 FHL1 2273 HP:0009054 Scapuloperoneal myopathy OMIM:300695 FHL1 2273 HP:0003376 Steppage gait OMIM:300695 FHL1 2273 HP:0002515 Waddling gait OMIM:300695 FHL1 2273 HP:0001371 Flexion contracture OMIM:300695 FHL1 2273 HP:0003715 Myofibrillar myopathy OMIM:300695 FHL1 2273 HP:0003691 Scapular winging OMIM:300695 FHL1 2273 HP:0007340 Lower limb muscle weakness OMIM:300695 FHL1 2273 HP:0009027 Foot dorsiflexor weakness OMIM:300695 FHL1 2273 HP:0003236 Elevated serum creatine phosphokinase OMIM:300695 FHL1 2273 HP:0003581 Adult onset OMIM:239510 ALDH4A1 8659 HP:0003080 Hydroxyprolinuria OMIM:239510 ALDH4A1 8659 HP:0000007 Autosomal recessive inheritance OMIM:239510 ALDH4A1 8659 HP:0001250 Seizures OMIM:239510 ALDH4A1 8659 HP:0008358 Hyperprolinemia OMIM:239510 ALDH4A1 8659 HP:0003108 Hyperglycinuria OMIM:239510 ALDH4A1 8659 HP:0003137 Prolinuria OMIM:239510 ALDH4A1 8659 HP:0001249 Intellectual disability OMIM:271980 ALDH5A1 7915 HP:0001263 Global developmental delay OMIM:271980 ALDH5A1 7915 HP:0100716 Self-injurious behavior OMIM:271980 ALDH5A1 7915 HP:0002311 Incoordination OMIM:271980 ALDH5A1 7915 HP:0000007 Autosomal recessive inheritance OMIM:271980 ALDH5A1 7915 HP:0003593 Infantile onset OMIM:271980 ALDH5A1 7915 HP:0001249 Intellectual disability OMIM:271980 ALDH5A1 7915 HP:0003812 Phenotypic variability OMIM:271980 ALDH5A1 7915 HP:0000709 Psychosis OMIM:271980 ALDH5A1 7915 HP:0000496 Abnormality of eye movement OMIM:271980 ALDH5A1 7915 HP:0001252 Muscular hypotonia OMIM:271980 ALDH5A1 7915 HP:0002123 Generalized myoclonic seizures OMIM:271980 ALDH5A1 7915 HP:0001250 Seizures OMIM:271980 ALDH5A1 7915 HP:0000738 Hallucinations OMIM:271980 ALDH5A1 7915 HP:0000717 Autism OMIM:271980 ALDH5A1 7915 HP:0001265 Hyporeflexia OMIM:271980 ALDH5A1 7915 HP:0100543 Cognitive impairment OMIM:271980 ALDH5A1 7915 HP:0001251 Ataxia OMIM:271980 ALDH5A1 7915 HP:0000739 Anxiety OMIM:271980 ALDH5A1 7915 HP:0002487 Hyperkinesis OMIM:271980 ALDH5A1 7915 HP:0001939 Abnormality of metabolism/homeostasis OMIM:271980 ALDH5A1 7915 HP:0000718 Aggressive behavior OMIM:271980 ALDH5A1 7915 HP:0002353 EEG abnormality OMIM:271980 ALDH5A1 7915 HP:0002121 Absence seizures OMIM:271980 ALDH5A1 7915 HP:0000752 Hyperactivity OMIM:271980 ALDH5A1 7915 HP:0001270 Motor delay OMIM:271980 ALDH5A1 7915 HP:0002133 Status epilepticus OMIM:271980 ALDH5A1 7915 HP:0002069 Generalized tonic-clonic seizures OMIM:271980 ALDH5A1 7915 HP:0000750 Delayed speech and language development OMIM:614524 COL11A2 1302 HP:0003196 Short nose OMIM:614524 COL11A2 1302 HP:0001591 Bell-shaped thorax OMIM:614524 COL11A2 1302 HP:0000006 Autosomal dominant inheritance OMIM:614524 COL11A2 1302 HP:0000773 Short ribs OMIM:614524 COL11A2 1302 HP:0001538 Protuberant abdomen OMIM:614524 COL11A2 1302 HP:0003175 Hypoplastic ischia OMIM:614524 COL11A2 1302 HP:0000007 Autosomal recessive inheritance OMIM:614524 COL11A2 1302 HP:0000926 Platyspondyly OMIM:614524 COL11A2 1302 HP:0003173 Hypoplastic pubic bone OMIM:614524 COL11A2 1302 HP:0000946 Hypoplastic ilia OMIM:614524 COL11A2 1302 HP:0000272 Malar flattening OMIM:614524 COL11A2 1302 HP:0011800 Midface retrusion OMIM:614524 COL11A2 1302 HP:0000463 Anteverted nares OMIM:614524 COL11A2 1302 HP:0003016 Metaphyseal widening OMIM:614524 COL11A2 1302 HP:0005257 Thoracic hypoplasia OMIM:614524 COL11A2 1302 HP:0000347 Micrognathia OMIM:272460 FLNB 2317 HP:0004209 Clinodactyly of the 5th finger OMIM:272460 FLNB 2317 HP:0003311 Hypoplasia of the odontoid process OMIM:272460 FLNB 2317 HP:0000405 Conductive hearing impairment OMIM:272460 FLNB 2317 HP:0002091 Restrictive lung disease OMIM:272460 FLNB 2317 HP:0000384 Preauricular skin tag OMIM:272460 FLNB 2317 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:272460 FLNB 2317 HP:0002650 Scoliosis OMIM:272460 FLNB 2317 HP:0006297 Hypoplasia of dental enamel OMIM:272460 FLNB 2317 HP:0009702 Carpal synostosis OMIM:272460 FLNB 2317 HP:0003307 Hyperlordosis OMIM:272460 FLNB 2317 HP:0000107 Renal cyst OMIM:272460 FLNB 2317 HP:0003196 Short nose OMIM:272460 FLNB 2317 HP:0000455 Broad nasal tip OMIM:272460 FLNB 2317 HP:0002750 Delayed skeletal maturation OMIM:272460 FLNB 2317 HP:0000410 Mixed hearing impairment OMIM:272460 FLNB 2317 HP:0000113 Polycystic kidney dysplasia OMIM:272460 FLNB 2317 HP:0005048 Synostosis of carpal bones OMIM:272460 FLNB 2317 HP:0001376 Limitation of joint mobility OMIM:272460 FLNB 2317 HP:0003305 Block vertebrae OMIM:272460 FLNB 2317 HP:0000316 Hypertelorism OMIM:272460 FLNB 2317 HP:0010306 Short thorax OMIM:272460 FLNB 2317 HP:0003422 Vertebral segmentation defect OMIM:272460 FLNB 2317 HP:0000470 Short neck OMIM:272460 FLNB 2317 HP:0000518 Cataract OMIM:272460 FLNB 2317 HP:0002656 Epiphyseal dysplasia OMIM:272460 FLNB 2317 HP:0000407 Sensorineural hearing impairment OMIM:272460 FLNB 2317 HP:0003521 Disproportionate short-trunk short stature OMIM:272460 FLNB 2317 HP:0000283 Broad face OMIM:272460 FLNB 2317 HP:0001763 Pes planus OMIM:272460 FLNB 2317 HP:0008368 Tarsal synostosis OMIM:272460 FLNB 2317 HP:0007961 Rarefaction of retinal pigmentation OMIM:272460 FLNB 2317 HP:0000175 Cleft palate OMIM:272460 FLNB 2317 HP:0000007 Autosomal recessive inheritance OMIM:272460 FLNB 2317 HP:0000767 Pectus excavatum OMIM:272460 FLNB 2317 HP:0008456 C2-C3 subluxation OMIM:272460 FLNB 2317 HP:0003312 Abnormal form of the vertebral bodies OMIM:609634 SCN1A 6323 HP:0000618 Blindness OMIM:609634 SCN1A 6323 HP:0001269 Hemiparesis OMIM:609634 SCN1A 6323 HP:0001250 Seizures OMIM:609634 SCN1A 6323 HP:0002301 Hemiplegia OMIM:609634 SCN1A 6323 HP:0002077 Migraine with aura OMIM:609634 SCN1A 6323 HP:0000613 Photophobia OMIM:609634 SCN1A 6323 HP:0000006 Autosomal dominant inheritance OMIM:300884 ALG13 79868 HP:0000252 Microcephaly OMIM:300884 ALG13 79868 HP:0003593 Infantile onset OMIM:300884 ALG13 79868 HP:0001419 X-linked recessive inheritance OMIM:300884 ALG13 79868 HP:0002719 Recurrent infections OMIM:300884 ALG13 79868 HP:0001250 Seizures OMIM:300884 ALG13 79868 HP:0001371 Flexion contracture OMIM:300884 ALG13 79868 HP:0000666 Horizontal nystagmus OMIM:300884 ALG13 79868 HP:0001999 Abnormal facial shape OMIM:300884 ALG13 79868 HP:0007256 Abnormal pyramidal signs OMIM:300884 ALG13 79868 HP:0000238 Hydrocephalus OMIM:300884 ALG13 79868 HP:0003642 Type I transferrin isoform profile OMIM:300884 ALG13 79868 HP:0002071 Abnormality of extrapyramidal motor function OMIM:300884 ALG13 79868 HP:0001263 Global developmental delay OMIM:300884 ALG13 79868 HP:0001252 Muscular hypotonia OMIM:300884 ALG13 79868 HP:0000648 Optic atrophy OMIM:300884 ALG13 79868 HP:0002240 Hepatomegaly OMIM:137550 NRAS 4893 HP:0000293 Full cheeks OMIM:137550 NRAS 4893 HP:0100242 Sarcoma OMIM:137550 NRAS 4893 HP:0012056 Cutaneous melanoma OMIM:137550 NRAS 4893 HP:0000006 Autosomal dominant inheritance OMIM:137550 NRAS 4893 HP:0000343 Long philtrum OMIM:137550 NRAS 4893 HP:0000311 Round face OMIM:137550 NRAS 4893 HP:0000337 Broad forehead OMIM:137550 NRAS 4893 HP:0010759 Premaxillary Prominence OMIM:137550 NRAS 4893 HP:0000989 Pruritus OMIM:137550 NRAS 4893 HP:0000998 Hypertrichosis OMIM:137550 NRAS 4893 HP:0001250 Seizures OMIM:137550 NRAS 4893 HP:0001053 Hypopigmented skin patches OMIM:137550 NRAS 4893 HP:0000629 Periorbital fullness OMIM:137550 NRAS 4893 HP:0011220 Prominent forehead OMIM:137550 NRAS 4893 HP:0005600 Congenital giant melanocytic nevus OMIM:137550 NRAS 4893 HP:0000232 Everted lower lip vermilion OMIM:137550 NRAS 4893 HP:0000194 Open mouth OMIM:137550 NRAS 4893 HP:0000238 Hydrocephalus OMIM:137550 NRAS 4893 HP:0000418 Narrow nasal ridge OMIM:137550 NRAS 4893 HP:0003196 Short nose OMIM:137550 NRAS 4893 HP:0002002 Deep philtrum OMIM:137550 NRAS 4893 HP:0000455 Broad nasal tip OMIM:615735 KRT6C 286887 HP:0000006 Autosomal dominant inheritance OMIM:615735 KRT6C 286887 HP:0000982 Palmoplantar keratoderma OMIM:605282 CHSY1 22856 HP:0001156 Brachydactyly syndrome OMIM:605282 CHSY1 22856 HP:0010743 Short metatarsal OMIM:605282 CHSY1 22856 HP:0011087 Talon cusp OMIM:605282 CHSY1 22856 HP:0009702 Carpal synostosis OMIM:605282 CHSY1 22856 HP:0001234 Hitchhiker thumb OMIM:605282 CHSY1 22856 HP:0000007 Autosomal recessive inheritance OMIM:605282 CHSY1 22856 HP:0000648 Optic atrophy OMIM:605282 CHSY1 22856 HP:0008368 Tarsal synostosis OMIM:605282 CHSY1 22856 HP:0000691 Microdontia OMIM:605282 CHSY1 22856 HP:0002553 Highly arched eyebrow OMIM:605282 CHSY1 22856 HP:0002002 Deep philtrum OMIM:605282 CHSY1 22856 HP:0002974 Radioulnar synostosis OMIM:605282 CHSY1 22856 HP:0010049 Short metacarpal OMIM:605282 CHSY1 22856 HP:0000175 Cleft palate OMIM:605282 CHSY1 22856 HP:0000664 Synophrys OMIM:605282 CHSY1 22856 HP:0001159 Syndactyly OMIM:605282 CHSY1 22856 HP:0000699 Diastema OMIM:605282 CHSY1 22856 HP:0008619 Bilateral sensorineural hearing impairment OMIM:605282 CHSY1 22856 HP:0000592 Blue sclerae OMIM:614851 NIN 51199 HP:0011344 Severe global developmental delay OMIM:614851 NIN 51199 HP:0003067 Madelung deformity OMIM:614851 NIN 51199 HP:0000786 Primary amenorrhea OMIM:614851 NIN 51199 HP:0008551 Microtia OMIM:614851 NIN 51199 HP:0010864 Intellectual disability, severe OMIM:614851 NIN 51199 HP:0001191 Abnormality of the carpal bones OMIM:614851 NIN 51199 HP:0001250 Seizures OMIM:614851 NIN 51199 HP:0011787 Central hypothyroidism OMIM:614851 NIN 51199 HP:0000252 Microcephaly OMIM:614851 NIN 51199 HP:0001385 Hip dysplasia OMIM:614851 NIN 51199 HP:0004626 Lumbar scoliosis OMIM:614851 NIN 51199 HP:0000448 Prominent nose OMIM:614851 NIN 51199 HP:0000601 Hypotelorism OMIM:614851 NIN 51199 HP:0003510 Severe short stature OMIM:614851 NIN 51199 HP:0001511 Intrauterine growth retardation OMIM:614851 NIN 51199 HP:0002750 Delayed skeletal maturation OMIM:614851 NIN 51199 HP:0000007 Autosomal recessive inheritance OMIM:167400 SCN9A 6335 HP:0003623 Neonatal onset OMIM:167400 SCN9A 6335 HP:0000632 Lacrimation abnormality OMIM:167400 SCN9A 6335 HP:0001662 Bradycardia OMIM:167400 SCN9A 6335 HP:0002019 Constipation OMIM:167400 SCN9A 6335 HP:0007328 Impaired pain sensation OMIM:167400 SCN9A 6335 HP:0200025 Mandibular pain OMIM:167400 SCN9A 6335 HP:0001649 Tachycardia OMIM:167400 SCN9A 6335 HP:0200026 Ocular pain OMIM:167400 SCN9A 6335 HP:0000006 Autosomal dominant inheritance OMIM:300868 PIGA 5277 HP:0000280 Coarse facial features OMIM:300868 PIGA 5277 HP:0100704 Cortical visual impairment OMIM:300868 PIGA 5277 HP:0003155 Elevated alkaline phosphatase OMIM:300868 PIGA 5277 HP:0000365 Hearing impairment OMIM:300868 PIGA 5277 HP:0008064 Ichthyosis OMIM:300868 PIGA 5277 HP:0005280 Depressed nasal bridge OMIM:300868 PIGA 5277 HP:0002120 Cerebral cortical atrophy OMIM:300868 PIGA 5277 HP:0007361 Abnormality of the pons OMIM:300868 PIGA 5277 HP:0000160 Narrow mouth OMIM:300868 PIGA 5277 HP:0000347 Micrognathia OMIM:300868 PIGA 5277 HP:0001371 Flexion contracture OMIM:300868 PIGA 5277 HP:0000463 Anteverted nares OMIM:300868 PIGA 5277 HP:0001631 Defect in the atrial septum OMIM:300868 PIGA 5277 HP:0002714 Downturned corners of mouth OMIM:300868 PIGA 5277 HP:0002079 Hypoplasia of the corpus callosum OMIM:300868 PIGA 5277 HP:0011398 Central hypotonia OMIM:300868 PIGA 5277 HP:0001341 Olfactory lobe agenesis OMIM:300868 PIGA 5277 HP:0001051 Seborrheic dermatitis OMIM:300868 PIGA 5277 HP:0000396 Overfolded helix OMIM:300868 PIGA 5277 HP:0002240 Hepatomegaly OMIM:300868 PIGA 5277 HP:0002521 Hypsarrhythmia OMIM:300868 PIGA 5277 HP:0000272 Malar flattening OMIM:300868 PIGA 5277 HP:0001419 X-linked recessive inheritance OMIM:300868 PIGA 5277 HP:0002529 Neuronal loss in central nervous system OMIM:300868 PIGA 5277 HP:0001321 Cerebellar hypoplasia OMIM:300868 PIGA 5277 HP:0001331 Absent septum pellucidum OMIM:300868 PIGA 5277 HP:0000076 Vesicoureteral reflux OMIM:300868 PIGA 5277 HP:0000218 High palate OMIM:300868 PIGA 5277 HP:0000081 Duplicated collecting system OMIM:300868 PIGA 5277 HP:0001792 Small nail OMIM:300868 PIGA 5277 HP:0001522 Death in infancy OMIM:300868 PIGA 5277 HP:0000582 Upslanted palpebral fissure OMIM:300868 PIGA 5277 HP:0001344 Absent speech OMIM:300868 PIGA 5277 HP:0200134 Epileptic encephalopathy OMIM:300868 PIGA 5277 HP:0001394 Cirrhosis OMIM:300868 PIGA 5277 HP:0003517 Birth length greater than 97th percentile OMIM:300868 PIGA 5277 HP:0000256 Macrocephaly OMIM:300868 PIGA 5277 HP:0002123 Generalized myoclonic seizures OMIM:300868 PIGA 5277 HP:0000687 Widely spaced teeth OMIM:300868 PIGA 5277 HP:0000269 Prominent occiput OMIM:300868 PIGA 5277 HP:0000691 Microdontia OMIM:300868 PIGA 5277 HP:0000470 Short neck OMIM:300868 PIGA 5277 HP:0008936 Muscular hypotonia of the trunk OMIM:300868 PIGA 5277 HP:0000239 Large fontanelles OMIM:300868 PIGA 5277 HP:0000207 Triangular mouth OMIM:300868 PIGA 5277 HP:0001520 Large for gestational age OMIM:300868 PIGA 5277 HP:0001347 Hyperreflexia OMIM:300868 PIGA 5277 HP:0012448 Delayed myelination OMIM:300868 PIGA 5277 HP:0000212 Gingival overgrowth OMIM:300868 PIGA 5277 HP:0005484 Postnatal microcephaly OMIM:219750 CTNS 1497 HP:0000531 Corneal crystals OMIM:219750 CTNS 1497 HP:0000007 Autosomal recessive inheritance OMIM:219750 CTNS 1497 HP:0000079 Abnormality of the urinary system OMIM:219750 CTNS 1497 HP:0000613 Photophobia OMIM:119600 RUNX2 860 HP:0011001 Increased bone mineral density OMIM:119600 RUNX2 860 HP:0002643 Neonatal respiratory distress OMIM:119600 RUNX2 860 HP:0000773 Short ribs OMIM:119600 RUNX2 860 HP:0002700 Large foramen magnum OMIM:119600 RUNX2 860 HP:0002689 Absent paranasal sinuses OMIM:119600 RUNX2 860 HP:0002808 Kyphosis OMIM:119600 RUNX2 860 HP:0005259 Abnormal facility in opposing the shoulders OMIM:119600 RUNX2 860 HP:0008788 Delayed pubic bone ossification OMIM:119600 RUNX2 860 HP:0004474 Persistent open anterior fontanelle OMIM:119600 RUNX2 860 HP:0000218 High palate OMIM:119600 RUNX2 860 HP:0000891 Cervical ribs OMIM:119600 RUNX2 860 HP:0002812 Coxa vara OMIM:119600 RUNX2 860 HP:0003183 Wide pubic symphysis OMIM:119600 RUNX2 860 HP:0003304 Spondylolysis OMIM:119600 RUNX2 860 HP:0011800 Midface retrusion OMIM:119600 RUNX2 860 HP:0002866 Hypoplastic iliac wing OMIM:119600 RUNX2 860 HP:0000894 Short clavicles OMIM:119600 RUNX2 860 HP:0003302 Spondylolisthesis OMIM:119600 RUNX2 860 HP:0010230 Cone-shaped epiphyses of the phalanges of the hand OMIM:119600 RUNX2 860 HP:0002007 Frontal bossing OMIM:119600 RUNX2 860 HP:0000175 Cleft palate OMIM:119600 RUNX2 860 HP:0000272 Malar flattening OMIM:119600 RUNX2 860 HP:0000347 Micrognathia OMIM:119600 RUNX2 860 HP:0011069 Increased number of teeth OMIM:119600 RUNX2 860 HP:0005280 Depressed nasal bridge OMIM:119600 RUNX2 860 HP:0004220 Short middle phalanx of the 5th finger OMIM:119600 RUNX2 860 HP:0002684 Thickened calvaria OMIM:119600 RUNX2 860 HP:0000365 Hearing impairment OMIM:119600 RUNX2 860 HP:0000006 Autosomal dominant inheritance OMIM:119600 RUNX2 860 HP:0006040 Long second metacarpal OMIM:119600 RUNX2 860 HP:0000680 Delayed eruption of primary teeth OMIM:119600 RUNX2 860 HP:0002645 Wormian bones OMIM:119600 RUNX2 860 HP:0002738 Hypoplastic frontal sinuses OMIM:119600 RUNX2 860 HP:0000242 Parietal bossing OMIM:119600 RUNX2 860 HP:0000316 Hypertelorism OMIM:119600 RUNX2 860 HP:0000696 Delayed eruption of permanent teeth OMIM:119600 RUNX2 860 HP:0000189 Narrow palate OMIM:119600 RUNX2 860 HP:0002659 Increased susceptibility to fractures OMIM:119600 RUNX2 860 HP:0002688 Absent frontal sinuses OMIM:119600 RUNX2 860 HP:0006297 Hypoplasia of dental enamel OMIM:119600 RUNX2 860 HP:0100864 Short femoral neck OMIM:119600 RUNX2 860 HP:0003396 Syringomyelia OMIM:119600 RUNX2 860 HP:0008848 Moderately short stature OMIM:119600 RUNX2 860 HP:0000774 Narrow chest OMIM:119600 RUNX2 860 HP:0001156 Brachydactyly syndrome OMIM:119600 RUNX2 860 HP:0009577 Short middle phalanx of the 2nd finger OMIM:119600 RUNX2 860 HP:0000882 Hypoplastic scapulae OMIM:119600 RUNX2 860 HP:0002650 Scoliosis OMIM:119600 RUNX2 860 HP:0006660 Aplastic clavicles ORPHANET:75496 B3GALT6 126792 HP:0002652 Skeletal dysplasia ORPHANET:75496 B3GALT6 126792 HP:0001596 Alopecia ORPHANET:75496 B3GALT6 126792 HP:0009124 Abnormality of adipose tissue ORPHANET:75496 B3GALT6 126792 HP:0007495 Prematurely aged appearance ORPHANET:75496 B3GALT6 126792 HP:0100813 Testicular torsion ORPHANET:75496 B3GALT6 126792 HP:0000506 Telecanthus ORPHANET:75496 B3GALT6 126792 HP:0004322 Short stature ORPHANET:75496 B3GALT6 126792 HP:0001252 Muscular hypotonia ORPHANET:75496 B3GALT6 126792 HP:0001371 Flexion contracture ORPHANET:75496 B3GALT6 126792 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:75496 B3GALT6 126792 HP:0000230 Gingivitis ORPHANET:75496 B3GALT6 126792 HP:0001382 Joint hypermobility ORPHANET:75496 B3GALT6 126792 HP:0004349 Reduced bone mineral density ORPHANET:75496 B3GALT6 126792 HP:0001999 Abnormal facial shape ORPHANET:75496 B3GALT6 126792 HP:0000963 Thin skin ORPHANET:75496 B3GALT6 126792 HP:0000286 Epicanthus ORPHANET:75496 B3GALT6 126792 HP:0000987 Atypical scarring of skin ORPHANET:75496 B3GALT6 126792 HP:0001000 Abnormality of skin pigmentation ORPHANET:75496 B3GALT6 126792 HP:0000028 Cryptorchidism ORPHANET:75496 B3GALT6 126792 HP:0001641 Abnormality of the pulmonary valve ORPHANET:75496 B3GALT6 126792 HP:0001646 Abnormality of the aortic valve ORPHANET:75496 B4GALT7 11285 HP:0002652 Skeletal dysplasia ORPHANET:75496 B4GALT7 11285 HP:0001596 Alopecia ORPHANET:75496 B4GALT7 11285 HP:0009124 Abnormality of adipose tissue ORPHANET:75496 B4GALT7 11285 HP:0007495 Prematurely aged appearance ORPHANET:75496 B4GALT7 11285 HP:0100813 Testicular torsion ORPHANET:75496 B4GALT7 11285 HP:0000506 Telecanthus ORPHANET:75496 B4GALT7 11285 HP:0004322 Short stature ORPHANET:75496 B4GALT7 11285 HP:0001252 Muscular hypotonia ORPHANET:75496 B4GALT7 11285 HP:0001371 Flexion contracture ORPHANET:75496 B4GALT7 11285 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:75496 B4GALT7 11285 HP:0000230 Gingivitis ORPHANET:75496 B4GALT7 11285 HP:0001382 Joint hypermobility ORPHANET:75496 B4GALT7 11285 HP:0004349 Reduced bone mineral density ORPHANET:75496 B4GALT7 11285 HP:0001999 Abnormal facial shape ORPHANET:75496 B4GALT7 11285 HP:0000963 Thin skin ORPHANET:75496 B4GALT7 11285 HP:0000286 Epicanthus ORPHANET:75496 B4GALT7 11285 HP:0000987 Atypical scarring of skin ORPHANET:75496 B4GALT7 11285 HP:0001000 Abnormality of skin pigmentation ORPHANET:75496 B4GALT7 11285 HP:0000028 Cryptorchidism ORPHANET:75496 B4GALT7 11285 HP:0001641 Abnormality of the pulmonary valve ORPHANET:75496 B4GALT7 11285 HP:0001646 Abnormality of the aortic valve OMIM:616185 MCM9 254394 HP:0002750 Delayed skeletal maturation OMIM:616185 MCM9 254394 HP:0000786 Primary amenorrhea OMIM:616185 MCM9 254394 HP:0004322 Short stature OMIM:616185 MCM9 254394 HP:0004325 Decreased body weight ORPHANET:52417 MALT1 10892 HP:0002113 Pulmonary infiltrates ORPHANET:52417 MALT1 10892 HP:0002205 Recurrent respiratory infections ORPHANET:52417 MALT1 10892 HP:0004295 Abnormality of the gastric mucosa ORPHANET:52417 MALT1 10892 HP:0002017 Nausea and vomiting ORPHANET:52417 MALT1 10892 HP:0002019 Constipation ORPHANET:52417 MALT1 10892 HP:0100533 Inflammatory abnormality of the eye ORPHANET:52417 MALT1 10892 HP:0100721 Mediastinal lymphadenopathy ORPHANET:52417 MALT1 10892 HP:0000632 Lacrimation abnormality ORPHANET:52417 MALT1 10892 HP:0001824 Weight loss ORPHANET:52417 MALT1 10892 HP:0004377 Hematological neoplasm ORPHANET:52417 MALT1 10892 HP:0002027 Abdominal pain ORPHANET:52417 MALT1 10892 HP:0004370 Abnormality of temperature regulation ORPHANET:52417 MALT1 10892 HP:0000975 Hyperhidrosis ORPHANET:52417 MALT1 10892 HP:0000820 Abnormality of the thyroid gland ORPHANET:52417 FOXP1 27086 HP:0002113 Pulmonary infiltrates ORPHANET:52417 FOXP1 27086 HP:0002205 Recurrent respiratory infections ORPHANET:52417 FOXP1 27086 HP:0004295 Abnormality of the gastric mucosa ORPHANET:52417 FOXP1 27086 HP:0002017 Nausea and vomiting ORPHANET:52417 FOXP1 27086 HP:0002019 Constipation ORPHANET:52417 FOXP1 27086 HP:0100533 Inflammatory abnormality of the eye ORPHANET:52417 FOXP1 27086 HP:0100721 Mediastinal lymphadenopathy ORPHANET:52417 FOXP1 27086 HP:0000632 Lacrimation abnormality ORPHANET:52417 FOXP1 27086 HP:0001824 Weight loss ORPHANET:52417 FOXP1 27086 HP:0004377 Hematological neoplasm ORPHANET:52417 FOXP1 27086 HP:0002027 Abdominal pain ORPHANET:52417 FOXP1 27086 HP:0004370 Abnormality of temperature regulation ORPHANET:52417 FOXP1 27086 HP:0000975 Hyperhidrosis ORPHANET:52417 FOXP1 27086 HP:0000820 Abnormality of the thyroid gland ORPHANET:52417 BIRC3 330 HP:0002113 Pulmonary infiltrates ORPHANET:52417 BIRC3 330 HP:0002205 Recurrent respiratory infections ORPHANET:52417 BIRC3 330 HP:0004295 Abnormality of the gastric mucosa ORPHANET:52417 BIRC3 330 HP:0002017 Nausea and vomiting ORPHANET:52417 BIRC3 330 HP:0002019 Constipation ORPHANET:52417 BIRC3 330 HP:0100533 Inflammatory abnormality of the eye ORPHANET:52417 BIRC3 330 HP:0100721 Mediastinal lymphadenopathy ORPHANET:52417 BIRC3 330 HP:0000632 Lacrimation abnormality ORPHANET:52417 BIRC3 330 HP:0001824 Weight loss ORPHANET:52417 BIRC3 330 HP:0004377 Hematological neoplasm ORPHANET:52417 BIRC3 330 HP:0002027 Abdominal pain ORPHANET:52417 BIRC3 330 HP:0004370 Abnormality of temperature regulation ORPHANET:52417 BIRC3 330 HP:0000975 Hyperhidrosis ORPHANET:52417 BIRC3 330 HP:0000820 Abnormality of the thyroid gland OMIM:616098 BCL10 8915 HP:0002721 Immunodeficiency OMIM:616098 BCL10 8915 HP:0004313 Hypogammaglobulinemia OMIM:616098 BCL10 8915 HP:0002719 Recurrent infections OMIM:616098 BCL10 8915 HP:0002383 Encephalitis OMIM:616098 BCL10 8915 HP:0001250 Seizures OMIM:614437 EFEMP2 30008 HP:0001548 Overgrowth OMIM:614437 EFEMP2 30008 HP:0001166 Arachnodactyly OMIM:614437 EFEMP2 30008 HP:0000414 Bulbous nose OMIM:614437 EFEMP2 30008 HP:0011220 Prominent forehead OMIM:614437 EFEMP2 30008 HP:0000369 Low-set ears OMIM:614437 EFEMP2 30008 HP:0000218 High palate OMIM:614437 EFEMP2 30008 HP:0001382 Joint hypermobility OMIM:614437 EFEMP2 30008 HP:0000316 Hypertelorism OMIM:614437 EFEMP2 30008 HP:0010444 Pulmonary insufficiency OMIM:614437 EFEMP2 30008 HP:0000520 Proptosis OMIM:614437 EFEMP2 30008 HP:0001662 Bradycardia OMIM:614437 EFEMP2 30008 HP:0045025 Small palpebral fissure OMIM:614437 EFEMP2 30008 HP:0010759 Premaxillary Prominence OMIM:614437 EFEMP2 30008 HP:0000444 Convex nasal ridge OMIM:614437 EFEMP2 30008 HP:0004937 Pulmonary artery aneurysm OMIM:614437 EFEMP2 30008 HP:0000776 Congenital diaphragmatic hernia OMIM:614437 EFEMP2 30008 HP:0000023 Inguinal hernia OMIM:614437 EFEMP2 30008 HP:0000377 Abnormality of the pinna OMIM:614437 EFEMP2 30008 HP:0005116 Arterial tortuosity OMIM:614437 EFEMP2 30008 HP:0000494 Downslanted palpebral fissures OMIM:614437 EFEMP2 30008 HP:0002097 Emphysema OMIM:614437 EFEMP2 30008 HP:0001724 Aortic dilatation OMIM:614437 EFEMP2 30008 HP:0000973 Cutis laxa OMIM:614437 EFEMP2 30008 HP:0001562 Oligohydramnios OMIM:614437 EFEMP2 30008 HP:0005280 Depressed nasal bridge OMIM:614437 EFEMP2 30008 HP:0000767 Pectus excavatum OMIM:614437 EFEMP2 30008 HP:0000977 Soft skin OMIM:614437 EFEMP2 30008 HP:0000252 Microcephaly OMIM:614437 EFEMP2 30008 HP:0004955 Generalized arterial tortuosity OMIM:614437 EFEMP2 30008 HP:0000347 Micrognathia OMIM:614437 EFEMP2 30008 HP:0004927 Pulmonary artery dilatation OMIM:614437 EFEMP2 30008 HP:0004942 Aortic aneurysm OMIM:614437 EFEMP2 30008 HP:0001252 Muscular hypotonia OMIM:614437 EFEMP2 30008 HP:0000007 Autosomal recessive inheritance OMIM:115200 LMNA 4000 HP:0004308 Ventricular arrhythmia OMIM:115200 LMNA 4000 HP:0001644 Dilated cardiomyopathy OMIM:115200 LMNA 4000 HP:0005110 Atrial fibrillation OMIM:115200 LMNA 4000 HP:0001635 Congestive heart failure OMIM:115200 LMNA 4000 HP:0004749 Atrial flutter OMIM:115200 LMNA 4000 HP:0000006 Autosomal dominant inheritance OMIM:115200 LMNA 4000 HP:0001698 Pericardial effusion OMIM:615592 IKBKB 3551 HP:0002028 Chronic diarrhea OMIM:615592 IKBKB 3551 HP:0000007 Autosomal recessive inheritance OMIM:615592 IKBKB 3551 HP:0011947 Respiratory tract infection OMIM:615592 IKBKB 3551 HP:0003593 Infantile onset OMIM:615592 IKBKB 3551 HP:0001508 Failure to thrive OMIM:615592 IKBKB 3551 HP:0002721 Immunodeficiency OMIM:615592 IKBKB 3551 HP:0004432 Agammaglobulinemia OMIM:606685 SGCD 6444 HP:0001644 Dilated cardiomyopathy OMIM:606685 SGCD 6444 HP:0000006 Autosomal dominant inheritance OMIM:606685 SGCD 6444 HP:0006673 Reduced systolic function OMIM:152700 CTLA4 1493 HP:0001878 Hemolytic anemia OMIM:152700 CTLA4 1493 HP:0002725 Systemic lupus erythematosus OMIM:152700 CTLA4 1493 HP:0001250 Seizures OMIM:152700 CTLA4 1493 HP:0001701 Pericarditis OMIM:152700 CTLA4 1493 HP:0003493 Antinuclear antibody positivity OMIM:152700 CTLA4 1493 HP:0000006 Autosomal dominant inheritance OMIM:152700 CTLA4 1493 HP:0001369 Arthritis OMIM:152700 CTLA4 1493 HP:0002102 Pleuritis OMIM:152700 CTLA4 1493 HP:0001882 Leukopenia OMIM:152700 CTLA4 1493 HP:0000123 Nephritis OMIM:152700 CTLA4 1493 HP:0000992 Cutaneous photosensitivity OMIM:152700 CTLA4 1493 HP:0003613 Antiphospholipid antibody positivity OMIM:152700 CTLA4 1493 HP:0000709 Psychosis OMIM:152700 CTLA4 1493 HP:0001873 Thrombocytopenia OMIM:152700 TREX1 11277 HP:0001878 Hemolytic anemia OMIM:152700 TREX1 11277 HP:0002725 Systemic lupus erythematosus OMIM:152700 TREX1 11277 HP:0001250 Seizures OMIM:152700 TREX1 11277 HP:0001701 Pericarditis OMIM:152700 TREX1 11277 HP:0003493 Antinuclear antibody positivity OMIM:152700 TREX1 11277 HP:0000006 Autosomal dominant inheritance OMIM:152700 TREX1 11277 HP:0001369 Arthritis OMIM:152700 TREX1 11277 HP:0002102 Pleuritis OMIM:152700 TREX1 11277 HP:0001882 Leukopenia OMIM:152700 TREX1 11277 HP:0000123 Nephritis OMIM:152700 TREX1 11277 HP:0000992 Cutaneous photosensitivity OMIM:152700 TREX1 11277 HP:0003613 Antiphospholipid antibody positivity OMIM:152700 TREX1 11277 HP:0000709 Psychosis OMIM:152700 TREX1 11277 HP:0001873 Thrombocytopenia ORPHANET:2573 RNF213 57674 HP:0100659 Abnormality of the cerebral vasculature ORPHANET:2573 RNF213 57674 HP:0100543 Cognitive impairment ORPHANET:2573 RNF213 57674 HP:0001250 Seizures ORPHANET:2573 RNF213 57674 HP:0002119 Ventriculomegaly ORPHANET:2573 ACTA2 59 HP:0100659 Abnormality of the cerebral vasculature ORPHANET:2573 ACTA2 59 HP:0100543 Cognitive impairment ORPHANET:2573 ACTA2 59 HP:0001250 Seizures ORPHANET:2573 ACTA2 59 HP:0002119 Ventriculomegaly OMIM:184095 TRPV4 59341 HP:0002857 Genu valgum OMIM:184095 TRPV4 59341 HP:0000006 Autosomal dominant inheritance OMIM:184095 TRPV4 59341 HP:0000478 Abnormality of the eye OMIM:184095 TRPV4 59341 HP:0002655 Spondyloepiphyseal dysplasia OMIM:184095 TRPV4 59341 HP:0000926 Platyspondyly OMIM:215300 EXT1 2131 HP:0000007 Autosomal recessive inheritance OMIM:215300 EXT1 2131 HP:0006765 Chondrosarcoma OMIM:191830 ITGA8 8516 HP:0000006 Autosomal dominant inheritance OMIM:191830 ITGA8 8516 HP:0002089 Pulmonary hypoplasia OMIM:191830 ITGA8 8516 HP:0001760 Abnormality of the foot OMIM:191830 ITGA8 8516 HP:0000093 Proteinuria OMIM:191830 ITGA8 8516 HP:0000278 Retrognathia OMIM:191830 ITGA8 8516 HP:0000110 Renal dysplasia OMIM:191830 ITGA8 8516 HP:0000104 Renal agenesis OMIM:191830 ITGA8 8516 HP:0000148 Vaginal atresia OMIM:191830 ITGA8 8516 HP:0002009 Potter facies OMIM:191830 ITGA8 8516 HP:0000813 Bicornuate uterus OMIM:191830 ITGA8 8516 HP:0000822 Hypertension OMIM:191830 ITGA8 8516 HP:0000369 Low-set ears OMIM:191830 ITGA8 8516 HP:0003577 Congenital onset OMIM:191830 ITGA8 8516 HP:0000786 Primary amenorrhea OMIM:191830 ITGA8 8516 HP:0001562 Oligohydramnios OMIM:191830 ITGA8 8516 HP:0000007 Autosomal recessive inheritance OMIM:191830 ITGA8 8516 HP:0000316 Hypertelorism OMIM:191830 ITGA8 8516 HP:0001762 Talipes equinovarus OMIM:191830 RET 5979 HP:0000006 Autosomal dominant inheritance OMIM:191830 RET 5979 HP:0002089 Pulmonary hypoplasia OMIM:191830 RET 5979 HP:0001760 Abnormality of the foot OMIM:191830 RET 5979 HP:0000093 Proteinuria OMIM:191830 RET 5979 HP:0000278 Retrognathia OMIM:191830 RET 5979 HP:0000110 Renal dysplasia OMIM:191830 RET 5979 HP:0000104 Renal agenesis OMIM:191830 RET 5979 HP:0000148 Vaginal atresia OMIM:191830 RET 5979 HP:0002009 Potter facies OMIM:191830 RET 5979 HP:0000813 Bicornuate uterus OMIM:191830 RET 5979 HP:0000822 Hypertension OMIM:191830 RET 5979 HP:0000369 Low-set ears OMIM:191830 RET 5979 HP:0003577 Congenital onset OMIM:191830 RET 5979 HP:0000786 Primary amenorrhea OMIM:191830 RET 5979 HP:0001562 Oligohydramnios OMIM:191830 RET 5979 HP:0000007 Autosomal recessive inheritance OMIM:191830 RET 5979 HP:0000316 Hypertelorism OMIM:191830 RET 5979 HP:0001762 Talipes equinovarus OMIM:191830 PAX2 5076 HP:0000006 Autosomal dominant inheritance OMIM:191830 PAX2 5076 HP:0002089 Pulmonary hypoplasia OMIM:191830 PAX2 5076 HP:0001760 Abnormality of the foot OMIM:191830 PAX2 5076 HP:0000093 Proteinuria OMIM:191830 PAX2 5076 HP:0000278 Retrognathia OMIM:191830 PAX2 5076 HP:0000110 Renal dysplasia OMIM:191830 PAX2 5076 HP:0000104 Renal agenesis OMIM:191830 PAX2 5076 HP:0000148 Vaginal atresia OMIM:191830 PAX2 5076 HP:0002009 Potter facies OMIM:191830 PAX2 5076 HP:0000813 Bicornuate uterus OMIM:191830 PAX2 5076 HP:0000822 Hypertension OMIM:191830 PAX2 5076 HP:0000369 Low-set ears OMIM:191830 PAX2 5076 HP:0003577 Congenital onset OMIM:191830 PAX2 5076 HP:0000786 Primary amenorrhea OMIM:191830 PAX2 5076 HP:0001562 Oligohydramnios OMIM:191830 PAX2 5076 HP:0000007 Autosomal recessive inheritance OMIM:191830 PAX2 5076 HP:0000316 Hypertelorism OMIM:191830 PAX2 5076 HP:0001762 Talipes equinovarus OMIM:253400 SMN1 6606 HP:0007289 Limb fasciculations OMIM:253400 SMN1 6606 HP:0003394 Muscle cramps OMIM:253400 SMN1 6606 HP:0001308 Tongue fasciculations OMIM:253400 SMN1 6606 HP:0002398 Degeneration of anterior horn cells OMIM:253400 SMN1 6606 HP:0002378 Hand tremor OMIM:253400 SMN1 6606 HP:0000007 Autosomal recessive inheritance OMIM:253400 SMN1 6606 HP:0001324 Muscle weakness OMIM:253400 SMN1 6606 HP:0003676 Progressive disorder OMIM:253400 SMN1 6606 HP:0002522 Areflexia of lower limbs OMIM:253400 SMN1 6606 HP:0007269 Spinal muscular atrophy OMIM:253400 SMN1 6606 HP:0003457 EMG abnormality OMIM:253400 SMN1 6606 HP:0001265 Hyporeflexia OMIM:226730 ITGB4 3691 HP:0001798 Anonychia OMIM:226730 ITGB4 3691 HP:0002021 Pyloric stenosis OMIM:226730 ITGB4 3691 HP:0002164 Nail dysplasia OMIM:226730 ITGB4 3691 HP:0001030 Fragile skin OMIM:226730 ITGB4 3691 HP:0005984 Elevated maternal serum alpha-fetoprotein OMIM:226730 ITGB4 3691 HP:0001057 Aplasia cutis congenita OMIM:226730 ITGB4 3691 HP:0002041 Intractable diarrhea OMIM:226730 ITGB4 3691 HP:0004399 Congenital pyloric atresia OMIM:226730 ITGB4 3691 HP:0100867 Duodenal stenosis OMIM:226730 ITGB4 3691 HP:0003341 Junctional split OMIM:226730 ITGB4 3691 HP:0002804 Arthrogryposis multiplex congenita OMIM:226730 ITGB4 3691 HP:0001522 Death in infancy OMIM:226730 ITGB4 3691 HP:0001075 Atrophic scars OMIM:226730 ITGB4 3691 HP:0002032 Esophageal atresia OMIM:226730 ITGB4 3691 HP:0008404 Nail dystrophy OMIM:226730 ITGB4 3691 HP:0001059 Pterygium OMIM:226730 ITGB4 3691 HP:0001056 Milia OMIM:226730 ITGB4 3691 HP:0001561 Polyhydramnios OMIM:226730 ITGB4 3691 HP:0000119 Abnormality of the genitourinary system OMIM:226730 ITGB4 3691 HP:0000007 Autosomal recessive inheritance OMIM:226730 ITGB4 3691 HP:0000492 Abnormality of the eyelid OMIM:226730 ITGB4 3691 HP:0006297 Hypoplasia of dental enamel OMIM:226730 ITGB4 3691 HP:0000656 Ectropion OMIM:226730 ITGB4 3691 HP:0200042 Skin ulcer OMIM:226730 ITGB4 3691 HP:0003577 Congenital onset OMIM:226730 ITGB4 3691 HP:0000071 Ureteral stenosis OMIM:226730 ITGB4 3691 HP:0001060 Axillary pterygia OMIM:226730 ITGB4 3691 HP:0008066 Abnormal blistering of the skin OMIM:226730 ITGA6 3655 HP:0001798 Anonychia OMIM:226730 ITGA6 3655 HP:0002021 Pyloric stenosis OMIM:226730 ITGA6 3655 HP:0002164 Nail dysplasia OMIM:226730 ITGA6 3655 HP:0001030 Fragile skin OMIM:226730 ITGA6 3655 HP:0005984 Elevated maternal serum alpha-fetoprotein OMIM:226730 ITGA6 3655 HP:0001057 Aplasia cutis congenita OMIM:226730 ITGA6 3655 HP:0002041 Intractable diarrhea OMIM:226730 ITGA6 3655 HP:0004399 Congenital pyloric atresia OMIM:226730 ITGA6 3655 HP:0100867 Duodenal stenosis OMIM:226730 ITGA6 3655 HP:0003341 Junctional split OMIM:226730 ITGA6 3655 HP:0002804 Arthrogryposis multiplex congenita OMIM:226730 ITGA6 3655 HP:0001522 Death in infancy OMIM:226730 ITGA6 3655 HP:0001075 Atrophic scars OMIM:226730 ITGA6 3655 HP:0002032 Esophageal atresia OMIM:226730 ITGA6 3655 HP:0008404 Nail dystrophy OMIM:226730 ITGA6 3655 HP:0001059 Pterygium OMIM:226730 ITGA6 3655 HP:0001056 Milia OMIM:226730 ITGA6 3655 HP:0001561 Polyhydramnios OMIM:226730 ITGA6 3655 HP:0000119 Abnormality of the genitourinary system OMIM:226730 ITGA6 3655 HP:0000007 Autosomal recessive inheritance OMIM:226730 ITGA6 3655 HP:0000492 Abnormality of the eyelid OMIM:226730 ITGA6 3655 HP:0006297 Hypoplasia of dental enamel OMIM:226730 ITGA6 3655 HP:0000656 Ectropion OMIM:226730 ITGA6 3655 HP:0200042 Skin ulcer OMIM:226730 ITGA6 3655 HP:0003577 Congenital onset OMIM:226730 ITGA6 3655 HP:0000071 Ureteral stenosis OMIM:226730 ITGA6 3655 HP:0001060 Axillary pterygia OMIM:226730 ITGA6 3655 HP:0008066 Abnormal blistering of the skin OMIM:614186 KCNJ13 3769 HP:0000518 Cataract OMIM:614186 KCNJ13 3769 HP:0000007 Autosomal recessive inheritance OMIM:614186 KCNJ13 3769 HP:0000639 Nystagmus OMIM:614186 KCNJ13 3769 HP:0000486 Strabismus OMIM:614186 KCNJ13 3769 HP:0000505 Visual impairment OMIM:200700 GDF5 8200 HP:0001831 Short toe OMIM:200700 GDF5 8200 HP:0009776 Adactyly OMIM:200700 GDF5 8200 HP:0002652 Skeletal dysplasia OMIM:200700 GDF5 8200 HP:0006228 Valgus hand deformity OMIM:200700 GDF5 8200 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:200700 GDF5 8200 HP:0002983 Micromelia OMIM:200700 GDF5 8200 HP:0005048 Synostosis of carpal bones OMIM:200700 GDF5 8200 HP:0002984 Hypoplasia of the radius OMIM:200700 GDF5 8200 HP:0001162 Postaxial hand polydactyly OMIM:200700 GDF5 8200 HP:0001163 Abnormality of the metacarpal bones OMIM:200700 GDF5 8200 HP:0001376 Limitation of joint mobility OMIM:200700 GDF5 8200 HP:0001156 Brachydactyly syndrome OMIM:200700 GDF5 8200 HP:0001371 Flexion contracture OMIM:200700 GDF5 8200 HP:0003038 Fibular hypoplasia OMIM:200700 GDF5 8200 HP:0003022 Hypoplasia of the ulna OMIM:200700 GDF5 8200 HP:0003086 Acromesomelia OMIM:200700 GDF5 8200 HP:0001773 Short foot OMIM:200700 GDF5 8200 HP:0008081 Valgus foot deformity OMIM:200700 GDF5 8200 HP:0011927 Short digit OMIM:200700 GDF5 8200 HP:0006487 Bowing of the long bones OMIM:200700 GDF5 8200 HP:0002992 Abnormality of the tibia OMIM:200700 GDF5 8200 HP:0003097 Short femur OMIM:200700 GDF5 8200 HP:0003826 Stillbirth OMIM:200700 GDF5 8200 HP:0006498 Aplasia/Hypoplasia of the patella OMIM:200700 GDF5 8200 HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones OMIM:200700 GDF5 8200 HP:0001522 Death in infancy OMIM:200700 GDF5 8200 HP:0002991 Abnormality of the fibula OMIM:200700 GDF5 8200 HP:0001964 Aplasia/Hypoplasia of metatarsal bones OMIM:200700 GDF5 8200 HP:0008873 Disproportionate short-limb short stature OMIM:200700 GDF5 8200 HP:0004322 Short stature OMIM:200700 GDF5 8200 HP:0009803 Short phalanx of finger OMIM:200700 GDF5 8200 HP:0000007 Autosomal recessive inheritance OMIM:200700 GDF5 8200 HP:0008368 Tarsal synostosis OMIM:200700 GDF5 8200 HP:0005736 Short tibia OMIM:200700 GDF5 8200 HP:0005792 Short humerus OMIM:613507 GYG1 2992 HP:0004308 Ventricular arrhythmia OMIM:613507 GYG1 2992 HP:0000007 Autosomal recessive inheritance OMIM:613507 GYG1 2992 HP:0001324 Muscle weakness OMIM:613507 GYG1 2992 HP:0011712 Right bundle branch block OMIM:225200 ADAMTSL4 54507 HP:0000541 Retinal detachment OMIM:225200 ADAMTSL4 54507 HP:0011003 Severe Myopia OMIM:225200 ADAMTSL4 54507 HP:0000518 Cataract OMIM:225200 ADAMTSL4 54507 HP:0001083 Ectopia lentis OMIM:225200 ADAMTSL4 54507 HP:0000007 Autosomal recessive inheritance OMIM:225200 ADAMTSL4 54507 HP:0009917 Persistent pupillary membrane ORPHANET:774 GDF2 2658 HP:0000790 Hematuria ORPHANET:774 GDF2 2658 HP:0002040 Esophageal varix ORPHANET:774 GDF2 2658 HP:0001399 Hepatic failure ORPHANET:774 GDF2 2658 HP:0007420 Spontaneous hematomas ORPHANET:774 GDF2 2658 HP:0008046 Abnormality of the retinal vasculature ORPHANET:774 GDF2 2658 HP:0004418 Thrombophlebitis ORPHANET:774 GDF2 2658 HP:0100585 Teleangiectasia of the skin ORPHANET:774 GDF2 2658 HP:0001935 Microcytic anemia ORPHANET:774 GDF2 2658 HP:0000524 Conjunctival telangiectasia ORPHANET:774 GDF2 2658 HP:0001250 Seizures ORPHANET:774 GDF2 2658 HP:0001080 Biliary tract abnormality ORPHANET:774 GDF2 2658 HP:0001928 Abnormality of coagulation ORPHANET:774 GDF2 2658 HP:0000505 Visual impairment ORPHANET:774 GDF2 2658 HP:0001635 Congestive heart failure ORPHANET:774 GDF2 2658 HP:0002204 Pulmonary embolism ORPHANET:774 GDF2 2658 HP:0200008 Intestinal polyposis ORPHANET:774 GDF2 2658 HP:0001048 Cavernous hemangioma ORPHANET:774 GDF2 2658 HP:0000421 Epistaxis ORPHANET:774 GDF2 2658 HP:0002092 Pulmonary hypertension ORPHANET:774 GDF2 2658 HP:0002637 Cerebral ischemia ORPHANET:774 GDF2 2658 HP:0002076 Migraine ORPHANET:774 GDF2 2658 HP:0001394 Cirrhosis ORPHANET:774 GDF2 2658 HP:0002105 Hemoptysis ORPHANET:774 GDF2 2658 HP:0000787 Nephrolithiasis ORPHANET:774 GDF2 2658 HP:0002239 Gastrointestinal hemorrhage ORPHANET:774 GDF2 2658 HP:0100784 Peripheral arteriovenous fistula ORPHANET:774 GDF2 2658 HP:0100761 Visceral angiomatosis ORPHANET:774 GDF2 2658 HP:0001409 Portal hypertension ORPHANET:774 ENG 2022 HP:0000790 Hematuria ORPHANET:774 ENG 2022 HP:0002040 Esophageal varix ORPHANET:774 ENG 2022 HP:0001399 Hepatic failure ORPHANET:774 ENG 2022 HP:0007420 Spontaneous hematomas ORPHANET:774 ENG 2022 HP:0008046 Abnormality of the retinal vasculature ORPHANET:774 ENG 2022 HP:0004418 Thrombophlebitis ORPHANET:774 ENG 2022 HP:0100585 Teleangiectasia of the skin ORPHANET:774 ENG 2022 HP:0001935 Microcytic anemia ORPHANET:774 ENG 2022 HP:0000524 Conjunctival telangiectasia ORPHANET:774 ENG 2022 HP:0001250 Seizures ORPHANET:774 ENG 2022 HP:0001080 Biliary tract abnormality ORPHANET:774 ENG 2022 HP:0001928 Abnormality of coagulation ORPHANET:774 ENG 2022 HP:0000505 Visual impairment ORPHANET:774 ENG 2022 HP:0001635 Congestive heart failure ORPHANET:774 ENG 2022 HP:0002204 Pulmonary embolism ORPHANET:774 ENG 2022 HP:0200008 Intestinal polyposis ORPHANET:774 ENG 2022 HP:0001048 Cavernous hemangioma ORPHANET:774 ENG 2022 HP:0000421 Epistaxis ORPHANET:774 ENG 2022 HP:0002092 Pulmonary hypertension ORPHANET:774 ENG 2022 HP:0002637 Cerebral ischemia ORPHANET:774 ENG 2022 HP:0002076 Migraine ORPHANET:774 ENG 2022 HP:0001394 Cirrhosis ORPHANET:774 ENG 2022 HP:0002105 Hemoptysis ORPHANET:774 ENG 2022 HP:0000787 Nephrolithiasis ORPHANET:774 ENG 2022 HP:0002239 Gastrointestinal hemorrhage ORPHANET:774 ENG 2022 HP:0100784 Peripheral arteriovenous fistula ORPHANET:774 ENG 2022 HP:0100761 Visceral angiomatosis ORPHANET:774 ENG 2022 HP:0001409 Portal hypertension ORPHANET:774 SMAD4 4089 HP:0000790 Hematuria ORPHANET:774 SMAD4 4089 HP:0002040 Esophageal varix ORPHANET:774 SMAD4 4089 HP:0001399 Hepatic failure ORPHANET:774 SMAD4 4089 HP:0007420 Spontaneous hematomas ORPHANET:774 SMAD4 4089 HP:0008046 Abnormality of the retinal vasculature ORPHANET:774 SMAD4 4089 HP:0004418 Thrombophlebitis ORPHANET:774 SMAD4 4089 HP:0100585 Teleangiectasia of the skin ORPHANET:774 SMAD4 4089 HP:0001935 Microcytic anemia ORPHANET:774 SMAD4 4089 HP:0000524 Conjunctival telangiectasia ORPHANET:774 SMAD4 4089 HP:0001250 Seizures ORPHANET:774 SMAD4 4089 HP:0001080 Biliary tract abnormality ORPHANET:774 SMAD4 4089 HP:0001928 Abnormality of coagulation ORPHANET:774 SMAD4 4089 HP:0000505 Visual impairment ORPHANET:774 SMAD4 4089 HP:0001635 Congestive heart failure ORPHANET:774 SMAD4 4089 HP:0002204 Pulmonary embolism ORPHANET:774 SMAD4 4089 HP:0200008 Intestinal polyposis ORPHANET:774 SMAD4 4089 HP:0001048 Cavernous hemangioma ORPHANET:774 SMAD4 4089 HP:0000421 Epistaxis ORPHANET:774 SMAD4 4089 HP:0002092 Pulmonary hypertension ORPHANET:774 SMAD4 4089 HP:0002637 Cerebral ischemia ORPHANET:774 SMAD4 4089 HP:0002076 Migraine ORPHANET:774 SMAD4 4089 HP:0001394 Cirrhosis ORPHANET:774 SMAD4 4089 HP:0002105 Hemoptysis ORPHANET:774 SMAD4 4089 HP:0000787 Nephrolithiasis ORPHANET:774 SMAD4 4089 HP:0002239 Gastrointestinal hemorrhage ORPHANET:774 SMAD4 4089 HP:0100784 Peripheral arteriovenous fistula ORPHANET:774 SMAD4 4089 HP:0100761 Visceral angiomatosis ORPHANET:774 SMAD4 4089 HP:0001409 Portal hypertension ORPHANET:774 ACVRL1 94 HP:0000790 Hematuria ORPHANET:774 ACVRL1 94 HP:0002040 Esophageal varix ORPHANET:774 ACVRL1 94 HP:0001399 Hepatic failure ORPHANET:774 ACVRL1 94 HP:0007420 Spontaneous hematomas ORPHANET:774 ACVRL1 94 HP:0008046 Abnormality of the retinal vasculature ORPHANET:774 ACVRL1 94 HP:0004418 Thrombophlebitis ORPHANET:774 ACVRL1 94 HP:0100585 Teleangiectasia of the skin ORPHANET:774 ACVRL1 94 HP:0001935 Microcytic anemia ORPHANET:774 ACVRL1 94 HP:0000524 Conjunctival telangiectasia ORPHANET:774 ACVRL1 94 HP:0001250 Seizures ORPHANET:774 ACVRL1 94 HP:0001080 Biliary tract abnormality ORPHANET:774 ACVRL1 94 HP:0001928 Abnormality of coagulation ORPHANET:774 ACVRL1 94 HP:0000505 Visual impairment ORPHANET:774 ACVRL1 94 HP:0001635 Congestive heart failure ORPHANET:774 ACVRL1 94 HP:0002204 Pulmonary embolism ORPHANET:774 ACVRL1 94 HP:0200008 Intestinal polyposis ORPHANET:774 ACVRL1 94 HP:0001048 Cavernous hemangioma ORPHANET:774 ACVRL1 94 HP:0000421 Epistaxis ORPHANET:774 ACVRL1 94 HP:0002092 Pulmonary hypertension ORPHANET:774 ACVRL1 94 HP:0002637 Cerebral ischemia ORPHANET:774 ACVRL1 94 HP:0002076 Migraine ORPHANET:774 ACVRL1 94 HP:0001394 Cirrhosis ORPHANET:774 ACVRL1 94 HP:0002105 Hemoptysis ORPHANET:774 ACVRL1 94 HP:0000787 Nephrolithiasis ORPHANET:774 ACVRL1 94 HP:0002239 Gastrointestinal hemorrhage ORPHANET:774 ACVRL1 94 HP:0100784 Peripheral arteriovenous fistula ORPHANET:774 ACVRL1 94 HP:0100761 Visceral angiomatosis ORPHANET:774 ACVRL1 94 HP:0001409 Portal hypertension OMIM:615959 SPEG 10290 HP:0003273 Hip contracture OMIM:615959 SPEG 10290 HP:0000218 High palate OMIM:615959 SPEG 10290 HP:0000160 Narrow mouth OMIM:615959 SPEG 10290 HP:0000347 Micrognathia OMIM:615959 SPEG 10290 HP:0001644 Dilated cardiomyopathy OMIM:615959 SPEG 10290 HP:0006829 Severe muscular hypotonia OMIM:615959 SPEG 10290 HP:0003327 Axial muscle weakness OMIM:615959 SPEG 10290 HP:0000602 Ophthalmoplegia OMIM:615959 SPEG 10290 HP:0001284 Areflexia OMIM:615959 SPEG 10290 HP:0010628 Facial palsy OMIM:615959 SPEG 10290 HP:0001270 Motor delay OMIM:615959 SPEG 10290 HP:0002093 Respiratory insufficiency OMIM:615959 SPEG 10290 HP:0000278 Retrognathia OMIM:614475 GATA6 2627 HP:0001684 Secundum atrial septal defect OMIM:614475 GATA6 2627 HP:0000006 Autosomal dominant inheritance OMIM:614475 GATA6 2627 HP:0002092 Pulmonary hypertension OMIM:300706 HUWE1 10075 HP:0001417 X-linked inheritance OMIM:300706 HUWE1 10075 HP:0000256 Macrocephaly OMIM:300706 HUWE1 10075 HP:0001377 Limited elbow extension OMIM:300706 HUWE1 10075 HP:0001249 Intellectual disability OMIM:300706 HUWE1 10075 HP:0000053 Macroorchidism OMIM:300706 HUWE1 10075 HP:0001360 Holoprosencephaly OMIM:300706 HUWE1 10075 HP:0001182 Tapered finger OMIM:608898 UNC13D 201294 HP:0001913 Granulocytopenia OMIM:608898 UNC13D 201294 HP:0001903 Anemia OMIM:608898 UNC13D 201294 HP:0000007 Autosomal recessive inheritance OMIM:608898 UNC13D 201294 HP:0012178 Reduced natural killer cell activity OMIM:608898 UNC13D 201294 HP:0001945 Fever OMIM:608898 UNC13D 201294 HP:0011900 Hypofibrinogenemia OMIM:608898 UNC13D 201294 HP:0012156 Hemophagocytosis OMIM:608898 UNC13D 201294 HP:0002155 Hypertriglyceridemia OMIM:608898 UNC13D 201294 HP:0001433 Hepatosplenomegaly OMIM:214800 SEMA3E 9723 HP:0001252 Muscular hypotonia OMIM:214800 SEMA3E 9723 HP:0009738 Abnormality of the antihelix OMIM:214800 SEMA3E 9723 HP:0000400 Macrotia OMIM:214800 SEMA3E 9723 HP:0002139 Arrhinencephaly OMIM:214800 SEMA3E 9723 HP:0001629 Ventricular septal defect OMIM:214800 SEMA3E 9723 HP:0000480 Retinal coloboma OMIM:214800 SEMA3E 9723 HP:0000394 Lop ear OMIM:214800 SEMA3E 9723 HP:0000028 Cryptorchidism OMIM:214800 SEMA3E 9723 HP:0000625 Cleft eyelid OMIM:214800 SEMA3E 9723 HP:0007018 Attention deficit hyperactivity disorder OMIM:214800 SEMA3E 9723 HP:0000008 Abnormality of female internal genitalia OMIM:214800 SEMA3E 9723 HP:0000272 Malar flattening OMIM:214800 SEMA3E 9723 HP:0008897 Postnatal growth retardation OMIM:214800 SEMA3E 9723 HP:0004404 Abnormality of the nipple OMIM:214800 SEMA3E 9723 HP:0000347 Micrognathia OMIM:214800 SEMA3E 9723 HP:0000458 Anosmia OMIM:214800 SEMA3E 9723 HP:0000321 Square face OMIM:214800 SEMA3E 9723 HP:0001161 Hand polydactyly OMIM:214800 SEMA3E 9723 HP:0002410 Aqueductal stenosis OMIM:214800 SEMA3E 9723 HP:0004322 Short stature OMIM:214800 SEMA3E 9723 HP:0000465 Webbed neck OMIM:214800 SEMA3E 9723 HP:0002247 Duodenal atresia OMIM:214800 SEMA3E 9723 HP:0001382 Joint hypermobility OMIM:214800 SEMA3E 9723 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:214800 SEMA3E 9723 HP:0000494 Downslanted palpebral fissures OMIM:214800 SEMA3E 9723 HP:0000246 Sinusitis OMIM:214800 SEMA3E 9723 HP:0001171 Split hand OMIM:214800 SEMA3E 9723 HP:0001537 Umbilical hernia OMIM:214800 SEMA3E 9723 HP:0000089 Renal hypoplasia OMIM:214800 SEMA3E 9723 HP:0000324 Facial asymmetry OMIM:214800 SEMA3E 9723 HP:0000066 Labial hypoplasia OMIM:214800 SEMA3E 9723 HP:0000453 Choanal atresia OMIM:214800 SEMA3E 9723 HP:0001539 Omphalocele OMIM:214800 SEMA3E 9723 HP:0000772 Abnormality of the ribs OMIM:214800 SEMA3E 9723 HP:0000048 Bifid scrotum OMIM:214800 SEMA3E 9723 HP:0000612 Iris coloboma OMIM:214800 SEMA3E 9723 HP:0000202 Oral cleft OMIM:214800 SEMA3E 9723 HP:0002575 Tracheoesophageal fistula OMIM:214800 SEMA3E 9723 HP:0002992 Abnormality of the tibia OMIM:214800 SEMA3E 9723 HP:0000689 Dental malocclusion OMIM:214800 SEMA3E 9723 HP:0004058 Monodactyly (hands) OMIM:214800 SEMA3E 9723 HP:0200021 Down-sloping shoulders OMIM:214800 SEMA3E 9723 HP:0001636 Tetralogy of Fallot OMIM:214800 SEMA3E 9723 HP:0000388 Otitis media OMIM:214800 SEMA3E 9723 HP:0003974 Absent radius OMIM:214800 SEMA3E 9723 HP:0000410 Mixed hearing impairment OMIM:214800 SEMA3E 9723 HP:0003272 Abnormality of the hip bone OMIM:214800 SEMA3E 9723 HP:0001883 Talipes OMIM:214800 SEMA3E 9723 HP:0011968 Feeding difficulties OMIM:214800 SEMA3E 9723 HP:0100716 Self-injurious behavior OMIM:214800 SEMA3E 9723 HP:0003422 Vertebral segmentation defect OMIM:214800 SEMA3E 9723 HP:0010669 Cheekbone underdevelopment OMIM:214800 SEMA3E 9723 HP:0000359 Abnormality of the inner ear OMIM:214800 SEMA3E 9723 HP:0010628 Facial palsy OMIM:214800 SEMA3E 9723 HP:0003745 Sporadic OMIM:214800 SEMA3E 9723 HP:0002015 Dysphagia OMIM:214800 SEMA3E 9723 HP:0010751 Chin dimple OMIM:214800 SEMA3E 9723 HP:0001177 Preaxial hand polydactyly OMIM:214800 SEMA3E 9723 HP:0001643 Patent ductus arteriosus OMIM:214800 SEMA3E 9723 HP:0100542 Abnormal localization of kidney OMIM:214800 SEMA3E 9723 HP:0008551 Microtia OMIM:214800 SEMA3E 9723 HP:0001888 Lymphopenia OMIM:214800 SEMA3E 9723 HP:0000085 Horseshoe kidney OMIM:214800 SEMA3E 9723 HP:0100736 Abnormality of the soft palate OMIM:214800 SEMA3E 9723 HP:0000717 Autism OMIM:214800 SEMA3E 9723 HP:0001018 Abnormal palmar dermatoglyphics OMIM:214800 SEMA3E 9723 HP:0008213 Gonadotropin deficiency OMIM:214800 SEMA3E 9723 HP:0001305 Dandy-Walker malformation OMIM:214800 SEMA3E 9723 HP:0001156 Brachydactyly syndrome OMIM:214800 SEMA3E 9723 HP:0100543 Cognitive impairment OMIM:214800 SEMA3E 9723 HP:0000006 Autosomal dominant inheritance OMIM:214800 SEMA3E 9723 HP:0004496 Posterior choanal atresia OMIM:214800 SEMA3E 9723 HP:0000541 Retinal detachment OMIM:214800 SEMA3E 9723 HP:0000175 Cleft palate OMIM:214800 SEMA3E 9723 HP:0001360 Holoprosencephaly OMIM:214800 SEMA3E 9723 HP:0002167 Neurological speech impairment OMIM:214800 SEMA3E 9723 HP:0000505 Visual impairment OMIM:214800 SEMA3E 9723 HP:0001561 Polyhydramnios OMIM:214800 SEMA3E 9723 HP:0000054 Micropenis OMIM:214800 SEMA3E 9723 HP:0000160 Narrow mouth OMIM:214800 SEMA3E 9723 HP:0002823 Abnormality of the femur OMIM:214800 SEMA3E 9723 HP:0000316 Hypertelorism OMIM:214800 SEMA3E 9723 HP:0008572 External ear malformation OMIM:214800 SEMA3E 9723 HP:0000378 Cupped ear OMIM:214800 SEMA3E 9723 HP:0002032 Esophageal atresia OMIM:214800 SEMA3E 9723 HP:0000252 Microcephaly OMIM:214800 SEMA3E 9723 HP:0009804 Reduced number of teeth OMIM:214800 SEMA3E 9723 HP:0009778 Short thumb OMIM:214800 SEMA3E 9723 HP:0010761 Broad columella OMIM:214800 SEMA3E 9723 HP:0002937 Hemivertebrae OMIM:214800 SEMA3E 9723 HP:0001231 Abnormality of the fingernails OMIM:214800 SEMA3E 9723 HP:0010515 Aplasia/Hypoplasia of the thymus OMIM:214800 SEMA3E 9723 HP:0000104 Renal agenesis OMIM:214800 SEMA3E 9723 HP:0003812 Phenotypic variability OMIM:214800 SEMA3E 9723 HP:0000055 Abnormality of female external genitalia OMIM:214800 SEMA3E 9723 HP:0000821 Hypothyroidism OMIM:214800 SEMA3E 9723 HP:0000567 Chorioretinal coloboma OMIM:214800 SEMA3E 9723 HP:0000632 Lacrimation abnormality OMIM:214800 SEMA3E 9723 HP:0000126 Hydronephrosis OMIM:214800 SEMA3E 9723 HP:0005374 Cellular immunodeficiency OMIM:214800 SEMA3E 9723 HP:0000824 Growth hormone deficiency OMIM:214800 SEMA3E 9723 HP:0002311 Incoordination OMIM:214800 SEMA3E 9723 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:214800 SEMA3E 9723 HP:0002650 Scoliosis OMIM:214800 SEMA3E 9723 HP:0000682 Abnormality of dental enamel OMIM:214800 SEMA3E 9723 HP:0001601 Laryngomalacia OMIM:214800 SEMA3E 9723 HP:0003022 Hypoplasia of the ulna OMIM:214800 SEMA3E 9723 HP:0002553 Highly arched eyebrow OMIM:214800 SEMA3E 9723 HP:0001249 Intellectual disability OMIM:214800 SEMA3E 9723 HP:0000684 Delayed eruption of teeth OMIM:214800 SEMA3E 9723 HP:0008050 Abnormality of the palpebral fissures OMIM:214800 SEMA3E 9723 HP:0000568 Microphthalmos OMIM:214800 SEMA3E 9723 HP:0011001 Increased bone mineral density OMIM:214800 SEMA3E 9723 HP:0000486 Strabismus OMIM:214800 SEMA3E 9723 HP:0000488 Retinopathy OMIM:214800 SEMA3E 9723 HP:0004209 Clinodactyly of the 5th finger OMIM:214800 SEMA3E 9723 HP:0000365 Hearing impairment OMIM:214800 SEMA3E 9723 HP:0002093 Respiratory insufficiency OMIM:214800 SEMA3E 9723 HP:0006191 Deep palmar crease OMIM:214800 SEMA3E 9723 HP:0001631 Defect in the atrial septum OMIM:214800 SEMA3E 9723 HP:0100499 Tibial deviation of toes OMIM:214800 SEMA3E 9723 HP:0000275 Narrow face OMIM:214800 SEMA3E 9723 HP:0003043 Abnormality of the shoulder OMIM:214800 SEMA3E 9723 HP:0000648 Optic atrophy OMIM:214800 SEMA3E 9723 HP:0001199 Triphalangeal thumb OMIM:214800 SEMA3E 9723 HP:0001679 Abnormality of the aorta OMIM:214800 SEMA3E 9723 HP:0002023 Anal atresia OMIM:214800 SEMA3E 9723 HP:0001511 Intrauterine growth retardation OMIM:214800 SEMA3E 9723 HP:0000860 Parathyroid hypoplasia OMIM:214800 SEMA3E 9723 HP:0004408 Abnormality of the sense of smell OMIM:214800 SEMA3E 9723 HP:0000204 Cleft upper lip OMIM:214800 SEMA3E 9723 HP:0001642 Pulmonic stenosis OMIM:214800 SEMA3E 9723 HP:0001719 Double outlet right ventricle OMIM:214800 SEMA3E 9723 HP:0000830 Anterior hypopituitarism OMIM:214800 SEMA3E 9723 HP:0000588 Optic nerve coloboma OMIM:214800 SEMA3E 9723 HP:0009906 Aplasia/Hypoplasia of the earlobes OMIM:214800 SEMA3E 9723 HP:0000528 Anophthalmia OMIM:214800 SEMA3E 9723 HP:0000834 Abnormality of the adrenal glands OMIM:214800 SEMA3E 9723 HP:0000501 Glaucoma OMIM:214800 SEMA3E 9723 HP:0100720 Hypoplasia of the ear cartilage OMIM:214800 SEMA3E 9723 HP:0000384 Preauricular skin tag OMIM:214800 SEMA3E 9723 HP:0010443 Bifid femur OMIM:214800 SEMA3E 9723 HP:0002901 Hypocalcemia OMIM:214800 SEMA3E 9723 HP:0000722 Obsessive-compulsive behavior OMIM:214800 SEMA3E 9723 HP:0000639 Nystagmus OMIM:214800 SEMA3E 9723 HP:0000508 Ptosis OMIM:214800 SEMA3E 9723 HP:0008736 Hypoplasia of penis OMIM:214800 SEMA3E 9723 HP:0000044 Hypogonadotrophic hypogonadism OMIM:214800 SEMA3E 9723 HP:0000286 Epicanthus OMIM:214800 SEMA3E 9723 HP:0002025 Anal stenosis OMIM:214800 SEMA3E 9723 HP:0000368 Low-set, posteriorly rotated ears OMIM:214800 SEMA3E 9723 HP:0000076 Vesicoureteral reflux OMIM:214800 SEMA3E 9723 HP:0000823 Delayed puberty OMIM:214800 SEMA3E 9723 HP:0008872 Feeding difficulties in infancy OMIM:214800 SEMA3E 9723 HP:0000396 Overfolded helix OMIM:214800 CHD7 55636 HP:0001252 Muscular hypotonia OMIM:214800 CHD7 55636 HP:0009738 Abnormality of the antihelix OMIM:214800 CHD7 55636 HP:0000400 Macrotia OMIM:214800 CHD7 55636 HP:0002139 Arrhinencephaly OMIM:214800 CHD7 55636 HP:0001629 Ventricular septal defect OMIM:214800 CHD7 55636 HP:0000480 Retinal coloboma OMIM:214800 CHD7 55636 HP:0000394 Lop ear OMIM:214800 CHD7 55636 HP:0000028 Cryptorchidism OMIM:214800 CHD7 55636 HP:0000625 Cleft eyelid OMIM:214800 CHD7 55636 HP:0007018 Attention deficit hyperactivity disorder OMIM:214800 CHD7 55636 HP:0000008 Abnormality of female internal genitalia OMIM:214800 CHD7 55636 HP:0000272 Malar flattening OMIM:214800 CHD7 55636 HP:0008897 Postnatal growth retardation OMIM:214800 CHD7 55636 HP:0004404 Abnormality of the nipple OMIM:214800 CHD7 55636 HP:0000347 Micrognathia OMIM:214800 CHD7 55636 HP:0000458 Anosmia OMIM:214800 CHD7 55636 HP:0000321 Square face OMIM:214800 CHD7 55636 HP:0001161 Hand polydactyly OMIM:214800 CHD7 55636 HP:0002410 Aqueductal stenosis OMIM:214800 CHD7 55636 HP:0004322 Short stature OMIM:214800 CHD7 55636 HP:0000465 Webbed neck OMIM:214800 CHD7 55636 HP:0002247 Duodenal atresia OMIM:214800 CHD7 55636 HP:0001382 Joint hypermobility OMIM:214800 CHD7 55636 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:214800 CHD7 55636 HP:0000494 Downslanted palpebral fissures OMIM:214800 CHD7 55636 HP:0000246 Sinusitis OMIM:214800 CHD7 55636 HP:0001171 Split hand OMIM:214800 CHD7 55636 HP:0001537 Umbilical hernia OMIM:214800 CHD7 55636 HP:0000089 Renal hypoplasia OMIM:214800 CHD7 55636 HP:0000324 Facial asymmetry OMIM:214800 CHD7 55636 HP:0000066 Labial hypoplasia OMIM:214800 CHD7 55636 HP:0000453 Choanal atresia OMIM:214800 CHD7 55636 HP:0001539 Omphalocele OMIM:214800 CHD7 55636 HP:0000772 Abnormality of the ribs OMIM:214800 CHD7 55636 HP:0000048 Bifid scrotum OMIM:214800 CHD7 55636 HP:0000612 Iris coloboma OMIM:214800 CHD7 55636 HP:0000202 Oral cleft OMIM:214800 CHD7 55636 HP:0002575 Tracheoesophageal fistula OMIM:214800 CHD7 55636 HP:0002992 Abnormality of the tibia OMIM:214800 CHD7 55636 HP:0000689 Dental malocclusion OMIM:214800 CHD7 55636 HP:0004058 Monodactyly (hands) OMIM:214800 CHD7 55636 HP:0200021 Down-sloping shoulders OMIM:214800 CHD7 55636 HP:0001636 Tetralogy of Fallot OMIM:214800 CHD7 55636 HP:0000388 Otitis media OMIM:214800 CHD7 55636 HP:0003974 Absent radius OMIM:214800 CHD7 55636 HP:0000410 Mixed hearing impairment OMIM:214800 CHD7 55636 HP:0003272 Abnormality of the hip bone OMIM:214800 CHD7 55636 HP:0001883 Talipes OMIM:214800 CHD7 55636 HP:0011968 Feeding difficulties OMIM:214800 CHD7 55636 HP:0100716 Self-injurious behavior OMIM:214800 CHD7 55636 HP:0003422 Vertebral segmentation defect OMIM:214800 CHD7 55636 HP:0010669 Cheekbone underdevelopment OMIM:214800 CHD7 55636 HP:0000359 Abnormality of the inner ear OMIM:214800 CHD7 55636 HP:0010628 Facial palsy OMIM:214800 CHD7 55636 HP:0003745 Sporadic OMIM:214800 CHD7 55636 HP:0002015 Dysphagia OMIM:214800 CHD7 55636 HP:0010751 Chin dimple OMIM:214800 CHD7 55636 HP:0001177 Preaxial hand polydactyly OMIM:214800 CHD7 55636 HP:0001643 Patent ductus arteriosus OMIM:214800 CHD7 55636 HP:0100542 Abnormal localization of kidney OMIM:214800 CHD7 55636 HP:0008551 Microtia OMIM:214800 CHD7 55636 HP:0001888 Lymphopenia OMIM:214800 CHD7 55636 HP:0000085 Horseshoe kidney OMIM:214800 CHD7 55636 HP:0100736 Abnormality of the soft palate OMIM:214800 CHD7 55636 HP:0000717 Autism OMIM:214800 CHD7 55636 HP:0001018 Abnormal palmar dermatoglyphics OMIM:214800 CHD7 55636 HP:0008213 Gonadotropin deficiency OMIM:214800 CHD7 55636 HP:0001305 Dandy-Walker malformation OMIM:214800 CHD7 55636 HP:0001156 Brachydactyly syndrome OMIM:214800 CHD7 55636 HP:0100543 Cognitive impairment OMIM:214800 CHD7 55636 HP:0000006 Autosomal dominant inheritance OMIM:214800 CHD7 55636 HP:0004496 Posterior choanal atresia OMIM:214800 CHD7 55636 HP:0000541 Retinal detachment OMIM:214800 CHD7 55636 HP:0000175 Cleft palate OMIM:214800 CHD7 55636 HP:0001360 Holoprosencephaly OMIM:214800 CHD7 55636 HP:0002167 Neurological speech impairment OMIM:214800 CHD7 55636 HP:0000505 Visual impairment OMIM:214800 CHD7 55636 HP:0001561 Polyhydramnios OMIM:214800 CHD7 55636 HP:0000054 Micropenis OMIM:214800 CHD7 55636 HP:0000160 Narrow mouth OMIM:214800 CHD7 55636 HP:0002823 Abnormality of the femur OMIM:214800 CHD7 55636 HP:0000316 Hypertelorism OMIM:214800 CHD7 55636 HP:0008572 External ear malformation OMIM:214800 CHD7 55636 HP:0000378 Cupped ear OMIM:214800 CHD7 55636 HP:0002032 Esophageal atresia OMIM:214800 CHD7 55636 HP:0000252 Microcephaly OMIM:214800 CHD7 55636 HP:0009804 Reduced number of teeth OMIM:214800 CHD7 55636 HP:0009778 Short thumb OMIM:214800 CHD7 55636 HP:0010761 Broad columella OMIM:214800 CHD7 55636 HP:0002937 Hemivertebrae OMIM:214800 CHD7 55636 HP:0001231 Abnormality of the fingernails OMIM:214800 CHD7 55636 HP:0010515 Aplasia/Hypoplasia of the thymus OMIM:214800 CHD7 55636 HP:0000104 Renal agenesis OMIM:214800 CHD7 55636 HP:0003812 Phenotypic variability OMIM:214800 CHD7 55636 HP:0000055 Abnormality of female external genitalia OMIM:214800 CHD7 55636 HP:0000821 Hypothyroidism OMIM:214800 CHD7 55636 HP:0000567 Chorioretinal coloboma OMIM:214800 CHD7 55636 HP:0000632 Lacrimation abnormality OMIM:214800 CHD7 55636 HP:0000126 Hydronephrosis OMIM:214800 CHD7 55636 HP:0005374 Cellular immunodeficiency OMIM:214800 CHD7 55636 HP:0000824 Growth hormone deficiency OMIM:214800 CHD7 55636 HP:0002311 Incoordination OMIM:214800 CHD7 55636 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:214800 CHD7 55636 HP:0002650 Scoliosis OMIM:214800 CHD7 55636 HP:0000682 Abnormality of dental enamel OMIM:214800 CHD7 55636 HP:0001601 Laryngomalacia OMIM:214800 CHD7 55636 HP:0003022 Hypoplasia of the ulna OMIM:214800 CHD7 55636 HP:0002553 Highly arched eyebrow OMIM:214800 CHD7 55636 HP:0001249 Intellectual disability OMIM:214800 CHD7 55636 HP:0000684 Delayed eruption of teeth OMIM:214800 CHD7 55636 HP:0008050 Abnormality of the palpebral fissures OMIM:214800 CHD7 55636 HP:0000568 Microphthalmos OMIM:214800 CHD7 55636 HP:0011001 Increased bone mineral density OMIM:214800 CHD7 55636 HP:0000486 Strabismus OMIM:214800 CHD7 55636 HP:0000488 Retinopathy OMIM:214800 CHD7 55636 HP:0004209 Clinodactyly of the 5th finger OMIM:214800 CHD7 55636 HP:0000365 Hearing impairment OMIM:214800 CHD7 55636 HP:0002093 Respiratory insufficiency OMIM:214800 CHD7 55636 HP:0006191 Deep palmar crease OMIM:214800 CHD7 55636 HP:0001631 Defect in the atrial septum OMIM:214800 CHD7 55636 HP:0100499 Tibial deviation of toes OMIM:214800 CHD7 55636 HP:0000275 Narrow face OMIM:214800 CHD7 55636 HP:0003043 Abnormality of the shoulder OMIM:214800 CHD7 55636 HP:0000648 Optic atrophy OMIM:214800 CHD7 55636 HP:0001199 Triphalangeal thumb OMIM:214800 CHD7 55636 HP:0001679 Abnormality of the aorta OMIM:214800 CHD7 55636 HP:0002023 Anal atresia OMIM:214800 CHD7 55636 HP:0001511 Intrauterine growth retardation OMIM:214800 CHD7 55636 HP:0000860 Parathyroid hypoplasia OMIM:214800 CHD7 55636 HP:0004408 Abnormality of the sense of smell OMIM:214800 CHD7 55636 HP:0000204 Cleft upper lip OMIM:214800 CHD7 55636 HP:0001642 Pulmonic stenosis OMIM:214800 CHD7 55636 HP:0001719 Double outlet right ventricle OMIM:214800 CHD7 55636 HP:0000830 Anterior hypopituitarism OMIM:214800 CHD7 55636 HP:0000588 Optic nerve coloboma OMIM:214800 CHD7 55636 HP:0009906 Aplasia/Hypoplasia of the earlobes OMIM:214800 CHD7 55636 HP:0000528 Anophthalmia OMIM:214800 CHD7 55636 HP:0000834 Abnormality of the adrenal glands OMIM:214800 CHD7 55636 HP:0000501 Glaucoma OMIM:214800 CHD7 55636 HP:0100720 Hypoplasia of the ear cartilage OMIM:214800 CHD7 55636 HP:0000384 Preauricular skin tag OMIM:214800 CHD7 55636 HP:0010443 Bifid femur OMIM:214800 CHD7 55636 HP:0002901 Hypocalcemia OMIM:214800 CHD7 55636 HP:0000722 Obsessive-compulsive behavior OMIM:214800 CHD7 55636 HP:0000639 Nystagmus OMIM:214800 CHD7 55636 HP:0000508 Ptosis OMIM:214800 CHD7 55636 HP:0008736 Hypoplasia of penis OMIM:214800 CHD7 55636 HP:0000044 Hypogonadotrophic hypogonadism OMIM:214800 CHD7 55636 HP:0000286 Epicanthus OMIM:214800 CHD7 55636 HP:0002025 Anal stenosis OMIM:214800 CHD7 55636 HP:0000368 Low-set, posteriorly rotated ears OMIM:214800 CHD7 55636 HP:0000076 Vesicoureteral reflux OMIM:214800 CHD7 55636 HP:0000823 Delayed puberty OMIM:214800 CHD7 55636 HP:0008872 Feeding difficulties in infancy OMIM:214800 CHD7 55636 HP:0000396 Overfolded helix OMIM:248390 POLR1C 9533 HP:0000272 Malar flattening OMIM:248390 POLR1C 9533 HP:0000007 Autosomal recessive inheritance OMIM:248390 POLR1C 9533 HP:0000175 Cleft palate OMIM:248390 POLR1C 9533 HP:0005321 Mandibulofacial dysostosis OMIM:248390 POLR1C 9533 HP:0000356 Abnormality of the outer ear OMIM:248390 POLR1C 9533 HP:0000347 Micrognathia OMIM:248390 POLR1C 9533 HP:0000652 Lower eyelid coloboma OMIM:248390 POLR1C 9533 HP:0000494 Downslanted palpebral fissures OMIM:613703 GDF3 9573 HP:0007633 Bilateral microphthalmos OMIM:613703 GDF3 9573 HP:0009911 Abnormality of the temporal bone OMIM:613703 GDF3 9573 HP:0000505 Visual impairment OMIM:613703 GDF3 9573 HP:0000639 Nystagmus OMIM:613703 GDF3 9573 HP:0000589 Coloboma OMIM:613703 GDF3 9573 HP:0000006 Autosomal dominant inheritance OMIM:613703 GDF3 9573 HP:0007766 Optic disc hypoplasia OMIM:613703 GDF3 9573 HP:0007750 Hypoplasia of the fovea OMIM:613703 GDF3 9573 HP:0010984 Digenic inheritance OMIM:613703 GDF6 392255 HP:0007633 Bilateral microphthalmos OMIM:613703 GDF6 392255 HP:0009911 Abnormality of the temporal bone OMIM:613703 GDF6 392255 HP:0000505 Visual impairment OMIM:613703 GDF6 392255 HP:0000639 Nystagmus OMIM:613703 GDF6 392255 HP:0000589 Coloboma OMIM:613703 GDF6 392255 HP:0000006 Autosomal dominant inheritance OMIM:613703 GDF6 392255 HP:0007766 Optic disc hypoplasia OMIM:613703 GDF6 392255 HP:0007750 Hypoplasia of the fovea OMIM:613703 GDF6 392255 HP:0010984 Digenic inheritance OMIM:600852 CA4 762 HP:0000006 Autosomal dominant inheritance OMIM:600852 CA4 762 HP:0000510 Retinitis pigmentosa OMIM:264070 PCBD1 5092 HP:0001337 Tremor OMIM:264070 PCBD1 5092 HP:0001276 Hypertonia OMIM:264070 PCBD1 5092 HP:0008297 Transient hyperphenylalaninemia OMIM:264070 PCBD1 5092 HP:0004923 Hyperphenylalaninemia OMIM:264070 PCBD1 5092 HP:0000007 Autosomal recessive inheritance OMIM:264070 PCBD1 5092 HP:0001252 Muscular hypotonia OMIM:264070 PCBD1 5092 HP:0001270 Motor delay OMIM:160500 MYH7 4625 HP:0003701 Proximal muscle weakness OMIM:160500 MYH7 4625 HP:0001644 Dilated cardiomyopathy OMIM:160500 MYH7 4625 HP:0002650 Scoliosis OMIM:160500 MYH7 4625 HP:0003445 EMG: neuropathic changes OMIM:160500 MYH7 4625 HP:0003326 Myalgia OMIM:160500 MYH7 4625 HP:0000006 Autosomal dominant inheritance OMIM:160500 MYH7 4625 HP:0002460 Distal muscle weakness OMIM:160500 MYH7 4625 HP:0003236 Elevated serum creatine phosphokinase OMIM:160500 MYH7 4625 HP:0011463 Childhood onset OMIM:160500 MYH7 4625 HP:0003803 Type 1 muscle fiber predominance OMIM:160500 MYH7 4625 HP:0003677 Slow progression OMIM:160500 MYH7 4625 HP:0003593 Infantile onset OMIM:160500 MYH7 4625 HP:0000467 Neck muscle weakness OMIM:160500 MYH7 4625 HP:0001288 Gait disturbance OMIM:160500 MYH7 4625 HP:0009031 Amyotrophy of ankle musculature OMIM:160500 MYH7 4625 HP:0010628 Facial palsy OMIM:160500 MYH7 4625 HP:0000218 High palate OMIM:160500 MYH7 4625 HP:0003200 Ragged-red muscle fibers OMIM:160500 MYH7 4625 HP:0009077 Weakness of long finger extensor muscles OMIM:160500 MYH7 4625 HP:0003812 Phenotypic variability OMIM:160500 MYH7 4625 HP:0008180 Mildly elevated creatine phosphokinase OMIM:160500 MYH7 4625 HP:0011916 Toe extensor amyotrophy OMIM:160500 MYH7 4625 HP:0001761 Pes cavus OMIM:610687 CFL2 1073 HP:0001324 Muscle weakness OMIM:610687 CFL2 1073 HP:0001252 Muscular hypotonia OMIM:610687 CFL2 1073 HP:0001382 Joint hypermobility OMIM:610687 CFL2 1073 HP:0000007 Autosomal recessive inheritance OMIM:610687 CFL2 1073 HP:0003789 Minicore (multicore) myopathy OMIM:610687 CFL2 1073 HP:0000467 Neck muscle weakness OMIM:610687 CFL2 1073 HP:0002194 Delayed gross motor development OMIM:610687 CFL2 1073 HP:0003391 Gowers sign OMIM:610687 CFL2 1073 HP:0003677 Slow progression OMIM:610687 CFL2 1073 HP:0001284 Areflexia OMIM:610687 CFL2 1073 HP:0003798 Nemaline bodies OMIM:610687 CFL2 1073 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:610687 CFL2 1073 HP:0001288 Gait disturbance OMIM:610687 CFL2 1073 HP:0000218 High palate OMIM:610489 PRKAR1A 5573 HP:0000938 Osteopenia OMIM:610489 PRKAR1A 5573 HP:0001580 Pigmented micronodular adrenocortical disease OMIM:610489 PRKAR1A 5573 HP:0002808 Kyphosis OMIM:610489 PRKAR1A 5573 HP:0001268 Mental deterioration OMIM:610489 PRKAR1A 5573 HP:0003674 Onset OMIM:610489 PRKAR1A 5573 HP:0000713 Agitation OMIM:610489 PRKAR1A 5573 HP:0000739 Anxiety OMIM:610489 PRKAR1A 5573 HP:0001956 Truncal obesity OMIM:610489 PRKAR1A 5573 HP:0001579 Primary hypercorticolism OMIM:610489 PRKAR1A 5573 HP:0001065 Striae distensae OMIM:610489 PRKAR1A 5573 HP:0002920 Decreased circulating ACTH level OMIM:610489 PRKAR1A 5573 HP:0000822 Hypertension OMIM:610489 PRKAR1A 5573 HP:0000716 Depression OMIM:610489 PRKAR1A 5573 HP:0003466 Paradoxical increased cortisol secretion on dexamethasone suppression test OMIM:610489 PRKAR1A 5573 HP:0000709 Psychosis OMIM:610489 PRKAR1A 5573 HP:0000963 Thin skin OMIM:610489 PRKAR1A 5573 HP:0003118 Increased circulating cortisol level OMIM:610489 PRKAR1A 5573 HP:0000311 Round face OMIM:610489 PRKAR1A 5573 HP:0000939 Osteoporosis OMIM:610489 PRKAR1A 5573 HP:0000006 Autosomal dominant inheritance OMIM:610489 PRKAR1A 5573 HP:0001575 Mood changes OMIM:610489 PRKAR1A 5573 HP:0000978 Bruising susceptibility OMIM:203290 TYRP1 7306 HP:0000486 Strabismus OMIM:203290 TYRP1 7306 HP:0000639 Nystagmus OMIM:203290 TYRP1 7306 HP:0000992 Cutaneous photosensitivity OMIM:203290 TYRP1 7306 HP:0001107 Ocular albinism OMIM:203290 TYRP1 7306 HP:0001480 Freckling OMIM:203290 TYRP1 7306 HP:0001022 Albinism OMIM:203290 TYRP1 7306 HP:0000007 Autosomal recessive inheritance OMIM:203290 TYRP1 7306 HP:0007443 Partial albinism OMIM:203290 TYRP1 7306 HP:0002297 Red hair ORPHANET:2442 SH2D1A 4068 HP:0005374 Cellular immunodeficiency ORPHANET:2442 SH2D1A 4068 HP:0001903 Anemia ORPHANET:2442 SH2D1A 4068 HP:0002716 Lymphadenopathy ORPHANET:2442 SH2D1A 4068 HP:0001744 Splenomegaly ORPHANET:2442 SH2D1A 4068 HP:0002665 Lymphoma ORPHANET:2442 SH2D1A 4068 HP:0004313 Hypogammaglobulinemia ORPHANET:2442 SH2D1A 4068 HP:0002240 Hepatomegaly ORPHANET:2442 XIAP 331 HP:0005374 Cellular immunodeficiency ORPHANET:2442 XIAP 331 HP:0001903 Anemia ORPHANET:2442 XIAP 331 HP:0002716 Lymphadenopathy ORPHANET:2442 XIAP 331 HP:0001744 Splenomegaly ORPHANET:2442 XIAP 331 HP:0002665 Lymphoma ORPHANET:2442 XIAP 331 HP:0004313 Hypogammaglobulinemia ORPHANET:2442 XIAP 331 HP:0002240 Hepatomegaly OMIM:130020 COL3A1 1281 HP:0001063 Acrocyanosis OMIM:130020 COL3A1 1281 HP:0001634 Mitral valve prolapse OMIM:130020 COL3A1 1281 HP:0001065 Striae distensae OMIM:130020 COL3A1 1281 HP:0011675 Arrhythmia OMIM:130020 COL3A1 1281 HP:0000006 Autosomal dominant inheritance OMIM:130020 COL3A1 1281 HP:0100645 Cystocele OMIM:130020 COL3A1 1281 HP:0003042 Elbow dislocation OMIM:130020 COL3A1 1281 HP:0002019 Constipation OMIM:130020 COL3A1 1281 HP:0000977 Soft skin OMIM:130020 COL3A1 1281 HP:0100261 Abnormal tendon morphology OMIM:130020 COL3A1 1281 HP:0000174 Abnormality of the palate OMIM:130020 COL3A1 1281 HP:0000998 Hypertrichosis OMIM:130020 COL3A1 1281 HP:0000691 Microdontia OMIM:130020 COL3A1 1281 HP:0003272 Abnormality of the hip bone OMIM:130020 COL3A1 1281 HP:0002758 Osteoarthritis OMIM:130020 COL3A1 1281 HP:0005294 Arterial dissection OMIM:130020 COL3A1 1281 HP:0001382 Joint hypermobility OMIM:130020 COL3A1 1281 HP:0000230 Gingivitis OMIM:130020 COL3A1 1281 HP:0002829 Arthralgia OMIM:130020 COL3A1 1281 HP:0001373 Joint dislocation OMIM:130020 COL3A1 1281 HP:0000762 Decreased nerve conduction velocity OMIM:130020 COL3A1 1281 HP:0002104 Apnea OMIM:130020 COL3A1 1281 HP:0003019 Abnormality of the wrist OMIM:130020 COL3A1 1281 HP:0100689 Decreased corneal thickness OMIM:130020 COL3A1 1281 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature OMIM:130020 COL3A1 1281 HP:0003401 Paresthesia OMIM:130020 COL3A1 1281 HP:0002579 Gastrointestinal dysmotility OMIM:130020 COL3A1 1281 HP:0000144 Decreased fertility OMIM:130020 COL3A1 1281 HP:0000140 Abnormality of the menstrual cycle OMIM:130020 COL3A1 1281 HP:0001763 Pes planus OMIM:130020 COL3A1 1281 HP:0002645 Wormian bones OMIM:130020 COL3A1 1281 HP:0002076 Migraine OMIM:130020 COL3A1 1281 HP:0000963 Thin skin OMIM:130020 COL3A1 1281 HP:0001388 Joint laxity OMIM:130020 COL3A1 1281 HP:0002797 Osteolysis OMIM:130020 COL3A1 1281 HP:0000212 Gingival overgrowth OMIM:130020 COL3A1 1281 HP:0001097 Keratoconjunctivitis sicca OMIM:130020 COL3A1 1281 HP:0002017 Nausea and vomiting OMIM:130020 COL3A1 1281 HP:0001537 Umbilical hernia OMIM:130020 COL3A1 1281 HP:0002024 Malabsorption OMIM:130020 COL3A1 1281 HP:0003326 Myalgia OMIM:130020 COL3A1 1281 HP:0002650 Scoliosis OMIM:130020 COL3A1 1281 HP:0000974 Hyperextensible skin OMIM:130020 COL3A1 1281 HP:0002360 Sleep disturbance OMIM:130020 COL3A1 1281 HP:0000987 Atypical scarring of skin OMIM:130020 COL3A1 1281 HP:0000286 Epicanthus OMIM:130020 COL3A1 1281 HP:0001376 Limitation of joint mobility OMIM:130020 COL3A1 1281 HP:0000508 Ptosis OMIM:130020 COL3A1 1281 HP:0005293 Venous insufficiency OMIM:130020 COL3A1 1281 HP:0002321 Vertigo OMIM:130020 COL3A1 1281 HP:0005111 Dilatation of the ascending aorta OMIM:300849 GDI1 2664 HP:0001417 X-linked inheritance OMIM:300849 GDI1 2664 HP:0001249 Intellectual disability OMIM:231000 GBA 2629 HP:0001646 Abnormality of the aortic valve OMIM:231000 GBA 2629 HP:0002205 Recurrent respiratory infections OMIM:231000 GBA 2629 HP:0003581 Adult onset OMIM:231000 GBA 2629 HP:0001697 Abnormality of the pericardium OMIM:231000 GBA 2629 HP:0002653 Bone pain OMIM:231000 GBA 2629 HP:0001876 Pancytopenia OMIM:231000 GBA 2629 HP:0002240 Hepatomegaly OMIM:231000 GBA 2629 HP:0010885 Aseptic necrosis OMIM:231000 GBA 2629 HP:0001873 Thrombocytopenia OMIM:231000 GBA 2629 HP:0002092 Pulmonary hypertension OMIM:231000 GBA 2629 HP:0000597 Ophthalmoparesis OMIM:231000 GBA 2629 HP:0001270 Motor delay OMIM:231000 GBA 2629 HP:0000486 Strabismus OMIM:231000 GBA 2629 HP:0000716 Depression OMIM:231000 GBA 2629 HP:0000007 Autosomal recessive inheritance OMIM:231000 GBA 2629 HP:0001336 Myoclonus OMIM:231000 GBA 2629 HP:0002376 Developmental regression OMIM:231000 GBA 2629 HP:0002344 Progressive neurologic deterioration OMIM:231000 GBA 2629 HP:0002757 Recurrent fractures OMIM:231000 GBA 2629 HP:0001789 Hydrops fetalis OMIM:231000 GBA 2629 HP:0003656 Decreased beta-glucocerebrosidase protein and activity OMIM:231000 GBA 2629 HP:0000790 Hematuria OMIM:231000 GBA 2629 HP:0001288 Gait disturbance OMIM:231000 GBA 2629 HP:0002311 Incoordination OMIM:231000 GBA 2629 HP:0000726 Dementia OMIM:231000 GBA 2629 HP:0001882 Leukopenia OMIM:231000 GBA 2629 HP:0002797 Osteolysis OMIM:231000 GBA 2629 HP:0001744 Splenomegaly OMIM:231000 GBA 2629 HP:0000093 Proteinuria OMIM:231000 GBA 2629 HP:0002750 Delayed skeletal maturation OMIM:231000 GBA 2629 HP:0002167 Neurological speech impairment OMIM:231000 GBA 2629 HP:0001276 Hypertonia OMIM:231000 GBA 2629 HP:0011001 Increased bone mineral density OMIM:231000 GBA 2629 HP:0004934 Vascular calcification OMIM:231000 GBA 2629 HP:0004322 Short stature OMIM:231000 GBA 2629 HP:0001637 Abnormality of the myocardium OMIM:231000 GBA 2629 HP:0010702 Hypergammaglobulinemia OMIM:231000 GBA 2629 HP:0001903 Anemia OMIM:231000 GBA 2629 HP:0005528 Bone marrow hypocellularity OMIM:231000 GBA 2629 HP:0001250 Seizures OMIM:231000 GBA 2629 HP:0002091 Restrictive lung disease OMIM:231000 GBA 2629 HP:0001251 Ataxia OMIM:231000 GBA 2629 HP:0004325 Decreased body weight OMIM:231000 GBA 2629 HP:0002123 Generalized myoclonic seizures OMIM:231000 GBA 2629 HP:0002313 Spastic paraparesis OMIM:231000 GBA 2629 HP:0007817 Horizontal supranuclear gaze palsy OMIM:231000 GBA 2629 HP:0003812 Phenotypic variability OMIM:134700 G6PD 2539 HP:0004814 Fava bean-induced hemolytic anemia OMIM:134700 G6PD 2539 HP:0000006 Autosomal dominant inheritance OMIM:606960 ITS 282551 HP:0012197 Insulinoma OMIM:606960 ITS 282551 HP:0001428 Somatic mutation OMIM:300009 CLCN5 1184 HP:0002748 Rickets OMIM:300009 CLCN5 1184 HP:0000117 Renal phosphate wasting OMIM:300009 CLCN5 1184 HP:0002907 Microscopic hematuria OMIM:300009 CLCN5 1184 HP:0003029 Enlargement of the ankles OMIM:300009 CLCN5 1184 HP:0003109 Hyperphosphaturia OMIM:300009 CLCN5 1184 HP:0003126 Low-molecular-weight proteinuria OMIM:300009 CLCN5 1184 HP:0012622 Chronic kidney disease OMIM:300009 CLCN5 1184 HP:0010502 Fibular bowing OMIM:300009 CLCN5 1184 HP:0002150 Hypercalciuria OMIM:300009 CLCN5 1184 HP:0002148 Hypophosphatemia OMIM:300009 CLCN5 1184 HP:0003076 Glycosuria OMIM:300009 CLCN5 1184 HP:0002749 Osteomalacia OMIM:300009 CLCN5 1184 HP:0003152 Increased serum 1,25-dihydroxyvitamin D3 OMIM:300009 CLCN5 1184 HP:0000121 Nephrocalcinosis OMIM:300009 CLCN5 1184 HP:0002757 Recurrent fractures OMIM:300009 CLCN5 1184 HP:0002980 Femoral bowing OMIM:300009 CLCN5 1184 HP:0003020 Enlargement of the wrists OMIM:300009 CLCN5 1184 HP:0002663 Delayed epiphyseal ossification OMIM:300009 CLCN5 1184 HP:0003025 Metaphyseal irregularity OMIM:300009 CLCN5 1184 HP:0003013 Bulging epiphyses OMIM:300009 CLCN5 1184 HP:0002752 Sparse bone trabeculae OMIM:300009 CLCN5 1184 HP:0003355 Aminoaciduria OMIM:300009 CLCN5 1184 HP:0000787 Nephrolithiasis OMIM:300009 CLCN5 1184 HP:0002753 Thin bony cortex OMIM:300009 CLCN5 1184 HP:0001419 X-linked recessive inheritance OMIM:300009 CLCN5 1184 HP:0004322 Short stature OMIM:300009 CLCN5 1184 HP:0000114 Proximal tubulopathy OMIM:300009 CLCN5 1184 HP:0002653 Bone pain OMIM:300009 CLCN5 1184 HP:0002982 Tibial bowing OMIM:300009 CLCN5 1184 HP:0003812 Phenotypic variability OMIM:300009 CLCN5 1184 HP:0002979 Bowing of the legs OMIM:110800 GCNT2 2651 HP:0010970 Blood group antigen abnormality OMIM:232400 AGL 178 HP:0001714 Ventricular hypertrophy OMIM:232400 AGL 178 HP:0000293 Full cheeks OMIM:232400 AGL 178 HP:0001395 Hepatic fibrosis OMIM:232400 AGL 178 HP:0000219 Thin upper lip vermilion OMIM:232400 AGL 178 HP:0004322 Short stature OMIM:232400 AGL 178 HP:0100543 Cognitive impairment OMIM:232400 AGL 178 HP:0000490 Deeply set eye OMIM:232400 AGL 178 HP:0001943 Hypoglycemia OMIM:232400 AGL 178 HP:0003693 Distal amyotrophy OMIM:232400 AGL 178 HP:0003198 Myopathy OMIM:232400 AGL 178 HP:0000007 Autosomal recessive inheritance OMIM:232400 AGL 178 HP:0002910 Elevated hepatic transaminases OMIM:232400 AGL 178 HP:0001324 Muscle weakness OMIM:232400 AGL 178 HP:0002240 Hepatomegaly OMIM:232400 AGL 178 HP:0000455 Broad nasal tip OMIM:232400 AGL 178 HP:0003077 Hyperlipidemia OMIM:232400 AGL 178 HP:0005280 Depressed nasal bridge OMIM:232400 AGL 178 HP:0010978 Abnormality of immune system physiology OMIM:232400 AGL 178 HP:0000272 Malar flattening OMIM:232400 AGL 178 HP:0003119 Abnormality of lipid metabolism OMIM:232400 AGL 178 HP:0001638 Cardiomyopathy OMIM:232400 AGL 178 HP:0003236 Elevated serum creatine phosphokinase OMIM:232400 AGL 178 HP:0011800 Midface retrusion OMIM:611528 JUP 3728 HP:0001279 Syncope OMIM:611528 JUP 3728 HP:0004756 Ventricular tachycardia OMIM:611528 JUP 3728 HP:0000006 Autosomal dominant inheritance OMIM:611528 JUP 3728 HP:0001425 Heterogeneous OMIM:611528 JUP 3728 HP:0011663 Right ventricular cardiomyopathy OMIM:610198 DNAJC19 131118 HP:0000047 Hypospadias OMIM:610198 DNAJC19 131118 HP:0001414 Microvesicular hepatic steatosis OMIM:610198 DNAJC19 131118 HP:0000648 Optic atrophy OMIM:610198 DNAJC19 131118 HP:0001644 Dilated cardiomyopathy OMIM:610198 DNAJC19 131118 HP:0008734 Decreased testicular size OMIM:610198 DNAJC19 131118 HP:0008897 Postnatal growth retardation OMIM:610198 DNAJC19 131118 HP:0003344 3-Methylglutaric aciduria OMIM:610198 DNAJC19 131118 HP:0000007 Autosomal recessive inheritance OMIM:610198 DNAJC19 131118 HP:0012817 Noncompaction cardiomyopathy OMIM:610198 DNAJC19 131118 HP:0003150 Glutaric aciduria OMIM:610198 DNAJC19 131118 HP:0002470 Nonprogressive cerebellar ataxia OMIM:610198 DNAJC19 131118 HP:0001635 Congestive heart failure OMIM:610198 DNAJC19 131118 HP:0001249 Intellectual disability OMIM:610198 DNAJC19 131118 HP:0001324 Muscle weakness OMIM:610198 DNAJC19 131118 HP:0004856 Normochromic microcytic anemia OMIM:610198 DNAJC19 131118 HP:0001511 Intrauterine growth retardation OMIM:610198 DNAJC19 131118 HP:0000028 Cryptorchidism OMIM:610198 DNAJC19 131118 HP:0001645 Sudden cardiac death OMIM:610198 DNAJC19 131118 HP:0001657 Prolonged QT interval OMIM:613769 RGR 5995 HP:0000505 Visual impairment OMIM:613769 RGR 5995 HP:0007843 Attenuation of retinal blood vessels OMIM:613769 RGR 5995 HP:0000510 Retinitis pigmentosa OMIM:613769 RGR 5995 HP:0008017 Depigmented lesions of the retinal pigment epithelium OMIM:613769 RGR 5995 HP:0000006 Autosomal dominant inheritance OMIM:613769 RGR 5995 HP:0000654 Decreased electroretinogram (ERG) amplitude OMIM:613769 RGR 5995 HP:0001133 Constricted visual fields OMIM:232500 GBE1 2632 HP:0001558 Decreased fetal movement OMIM:232500 GBE1 2632 HP:0005576 Tubulointerstitial fibrosis OMIM:232500 GBE1 2632 HP:0001638 Cardiomyopathy OMIM:232500 GBE1 2632 HP:0001541 Ascites OMIM:232500 GBE1 2632 HP:0003202 Skeletal muscle atrophy OMIM:232500 GBE1 2632 HP:0001399 Hepatic failure OMIM:232500 GBE1 2632 HP:0001789 Hydrops fetalis OMIM:232500 GBE1 2632 HP:0000969 Edema OMIM:232500 GBE1 2632 HP:0001315 Reduced tendon reflexes OMIM:232500 GBE1 2632 HP:0001433 Hepatosplenomegaly OMIM:232500 GBE1 2632 HP:0001561 Polyhydramnios OMIM:232500 GBE1 2632 HP:0002804 Arthrogryposis multiplex congenita OMIM:232500 GBE1 2632 HP:0002040 Esophageal varix OMIM:232500 GBE1 2632 HP:0000007 Autosomal recessive inheritance OMIM:232500 GBE1 2632 HP:0001252 Muscular hypotonia OMIM:232500 GBE1 2632 HP:0001324 Muscle weakness OMIM:232500 GBE1 2632 HP:0001508 Failure to thrive OMIM:232500 GBE1 2632 HP:0001409 Portal hypertension OMIM:232500 GBE1 2632 HP:0001394 Cirrhosis OMIM:616322 CHRND 1144 HP:0002093 Respiratory insufficiency OMIM:616322 CHRND 1144 HP:0000218 High palate OMIM:616322 CHRND 1144 HP:0001558 Decreased fetal movement OMIM:616322 CHRND 1144 HP:0000508 Ptosis OMIM:616322 CHRND 1144 HP:0001252 Muscular hypotonia OMIM:616322 CHRND 1144 HP:0000467 Neck muscle weakness OMIM:616322 CHRND 1144 HP:0010628 Facial palsy OMIM:616322 CHRND 1144 HP:0003388 Easy fatigability OMIM:616322 CHRND 1144 HP:0011968 Feeding difficulties OMIM:616322 CHRND 1144 HP:0000602 Ophthalmoplegia OMIM:613470 GPI 2821 HP:0001251 Ataxia OMIM:613470 GPI 2821 HP:0011993 Impaired neutrophil bactericidal activity OMIM:613470 GPI 2821 HP:0001082 Cholecystitis OMIM:613470 GPI 2821 HP:0003568 Decreased glucosephosphate isomerase activity OMIM:613470 GPI 2821 HP:0011981 Pigment gallstones OMIM:613470 GPI 2821 HP:0001930 Nonspherocytic hemolytic anemia OMIM:613470 GPI 2821 HP:0000007 Autosomal recessive inheritance OMIM:613470 GPI 2821 HP:0010871 Sensory ataxia OMIM:613470 GPI 2821 HP:0001249 Intellectual disability OMIM:613470 GPI 2821 HP:0001324 Muscle weakness OMIM:613470 GPI 2821 HP:0001744 Splenomegaly OMIM:613470 GPI 2821 HP:0000952 Jaundice OMIM:613470 GPI 2821 HP:0005525 Spontaneous hemolytic crises OMIM:615957 ELOVL5 60481 HP:0002066 Gait ataxia OMIM:615957 ELOVL5 60481 HP:0000514 Slow saccadic eye movements OMIM:615957 ELOVL5 60481 HP:0001272 Cerebellar atrophy OMIM:615957 ELOVL5 60481 HP:0002070 Limb ataxia OMIM:615957 ELOVL5 60481 HP:0000639 Nystagmus OMIM:615957 ELOVL5 60481 HP:0003477 Peripheral axonal neuropathy OMIM:615957 ELOVL5 60481 HP:0001260 Dysarthria OMIM:253310 GLE1 2733 HP:0003202 Skeletal muscle atrophy OMIM:253310 GLE1 2733 HP:0007277 Paucity of anterior horn motor neurons OMIM:253310 GLE1 2733 HP:0000347 Micrognathia OMIM:253310 GLE1 2733 HP:0003272 Abnormality of the hip bone OMIM:253310 GLE1 2733 HP:0000772 Abnormality of the ribs OMIM:253310 GLE1 2733 HP:0000316 Hypertelorism OMIM:253310 GLE1 2733 HP:0002089 Pulmonary hypoplasia OMIM:253310 GLE1 2733 HP:0009775 Amniotic constriction ring OMIM:253310 GLE1 2733 HP:0004322 Short stature OMIM:253310 GLE1 2733 HP:0004571 Widening of cervical spinal canal OMIM:253310 GLE1 2733 HP:0001560 Abnormality of the amniotic fluid OMIM:253310 GLE1 2733 HP:0000368 Low-set, posteriorly rotated ears OMIM:253310 GLE1 2733 HP:0002804 Arthrogryposis multiplex congenita OMIM:253310 GLE1 2733 HP:0003100 Slender long bone OMIM:253310 GLE1 2733 HP:0009811 Abnormality of the elbow OMIM:253310 GLE1 2733 HP:0000765 Abnormality of the thorax OMIM:253310 GLE1 2733 HP:0003811 Neonatal death OMIM:253310 GLE1 2733 HP:0003103 Abnormal cortical bone morphology OMIM:253310 GLE1 2733 HP:0000007 Autosomal recessive inheritance OMIM:253310 GLE1 2733 HP:0002757 Recurrent fractures OMIM:253310 GLE1 2733 HP:0001561 Polyhydramnios OMIM:253310 GLE1 2733 HP:0003312 Abnormal form of the vertebral bodies OMIM:253310 GLE1 2733 HP:0009004 Hypoplasia of the musculature OMIM:253310 GLE1 2733 HP:0001376 Limitation of joint mobility OMIM:253310 GLE1 2733 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:253310 GLE1 2733 HP:0000969 Edema OMIM:253310 GLE1 2733 HP:0000470 Short neck OMIM:253310 GLE1 2733 HP:0000465 Webbed neck OMIM:266510 PEX12 5193 HP:0002240 Hepatomegaly OMIM:266510 PEX12 5193 HP:0000954 Single transverse palmar crease OMIM:266510 PEX12 5193 HP:0001265 Hyporeflexia OMIM:266510 PEX12 5193 HP:0001271 Polyneuropathy OMIM:266510 PEX12 5193 HP:0003146 Hypocholesterolemia OMIM:266510 PEX12 5193 HP:0001249 Intellectual disability OMIM:266510 PEX12 5193 HP:0012368 Flat face OMIM:266510 PEX12 5193 HP:0001252 Muscular hypotonia OMIM:266510 PEX12 5193 HP:0001508 Failure to thrive OMIM:266510 PEX12 5193 HP:0002570 Steatorrhea OMIM:266510 PEX12 5193 HP:0000407 Sensorineural hearing impairment OMIM:266510 PEX12 5193 HP:0001892 Abnormal bleeding OMIM:266510 PEX12 5193 HP:0000007 Autosomal recessive inheritance OMIM:266510 PEX12 5193 HP:0003577 Congenital onset OMIM:266510 PEX12 5193 HP:0000272 Malar flattening OMIM:266510 PEX12 5193 HP:0000457 Depressed nasal ridge OMIM:266510 PEX12 5193 HP:0000556 Retinal dystrophy OMIM:266510 PEX12 5193 HP:0000939 Osteoporosis OMIM:266510 PEX12 5193 HP:0001999 Abnormal facial shape OMIM:266510 PEX12 5193 HP:0000512 Abnormal electroretinogram OMIM:266510 PEX12 5193 HP:0000510 Retinitis pigmentosa OMIM:266510 PEX12 5193 HP:0001263 Global developmental delay OMIM:266510 PEX12 5193 HP:0008167 Very long chain fatty acid accumulation OMIM:615629 TNC 3371 HP:0000365 Hearing impairment OMIM:615629 TNC 3371 HP:0000006 Autosomal dominant inheritance OMIM:616323 CHRND 1144 HP:0000218 High palate OMIM:616323 CHRND 1144 HP:0001252 Muscular hypotonia OMIM:616323 CHRND 1144 HP:0002015 Dysphagia OMIM:616323 CHRND 1144 HP:0002093 Respiratory insufficiency OMIM:616323 CHRND 1144 HP:0010628 Facial palsy OMIM:616323 CHRND 1144 HP:0000508 Ptosis OMIM:616323 CHRND 1144 HP:0011968 Feeding difficulties OMIM:604364 DEPDC5 9681 HP:0001249 Intellectual disability OMIM:604364 DEPDC5 9681 HP:0001250 Seizures OMIM:604364 DEPDC5 9681 HP:0000006 Autosomal dominant inheritance OMIM:604364 DEPDC5 9681 HP:0003829 Incomplete penetrance OMIM:604364 DEPDC5 9681 HP:0000729 Autistic behavior OMIM:611497 PLEKHM1 9842 HP:0000007 Autosomal recessive inheritance OMIM:611497 PLEKHM1 9842 HP:0100959 Dense metaphyseal bands OMIM:611497 PLEKHM1 9842 HP:0011002 Osteopetrosis OMIM:611497 PLEKHM1 9842 HP:0004975 Erlenmeyer flask deformity of the femurs OMIM:300640 IKBKG 8517 HP:0005366 Recurrent streptococcus pneumoniae infections OMIM:300640 IKBKG 8517 HP:0000668 Hypodontia OMIM:300640 IKBKG 8517 HP:0000958 Dry skin OMIM:300640 IKBKG 8517 HP:0011065 Conical incisor OMIM:300640 IKBKG 8517 HP:0002007 Frontal bossing OMIM:191100 TSC1 7248 HP:0002086 Abnormality of the respiratory system OMIM:191100 TSC1 7248 HP:0001249 Intellectual disability OMIM:191100 TSC1 7248 HP:0000957 Cafe-au-lait spot OMIM:191100 TSC1 7248 HP:0009722 Dental enamel pits OMIM:191100 TSC1 7248 HP:0009729 Cardiac rhabdomyoma OMIM:191100 TSC1 7248 HP:0009716 Subependymal nodules OMIM:191100 TSC1 7248 HP:0000826 Precocious puberty OMIM:191100 TSC1 7248 HP:0009720 Adenoma sebaceum OMIM:191100 TSC1 7248 HP:0002888 Ependymoma OMIM:191100 TSC1 7248 HP:0000107 Renal cyst OMIM:191100 TSC1 7248 HP:0009592 Astrocytoma OMIM:191100 TSC1 7248 HP:0005584 Renal cell carcinoma OMIM:191100 TSC1 7248 HP:0009717 Cortical tubers OMIM:191100 TSC1 7248 HP:0009719 Hypomelanotic macules OMIM:191100 TSC1 7248 HP:0009734 Optic glioma OMIM:191100 TSC1 7248 HP:0006772 Renal angiomyolipoma OMIM:191100 TSC1 7248 HP:0001716 Wolff-Parkinson-White syndrome OMIM:191100 TSC1 7248 HP:0009727 Achromatic retinal patches OMIM:191100 TSC1 7248 HP:0000717 Autism OMIM:191100 TSC1 7248 HP:0012469 Infantile spasms OMIM:191100 TSC1 7248 HP:0001482 Subcutaneous nodule OMIM:191100 TSC1 7248 HP:0200024 Premature chromatid separation OMIM:191100 TSC1 7248 HP:0001328 Specific learning disability OMIM:191100 TSC1 7248 HP:0009721 Shagreen patch OMIM:191100 TSC1 7248 HP:0002514 Cerebral calcification OMIM:191100 TSC1 7248 HP:0010762 Chordoma OMIM:191100 TSC1 7248 HP:0003812 Phenotypic variability OMIM:191100 TSC1 7248 HP:0009724 Subungual fibromas OMIM:191100 TSC1 7248 HP:0000821 Hypothyroidism OMIM:191100 TSC1 7248 HP:0000169 Gingival fibromatosis OMIM:191100 TSC1 7248 HP:0007018 Attention deficit hyperactivity disorder OMIM:191100 TSC1 7248 HP:0000006 Autosomal dominant inheritance OMIM:191100 TSC1 7248 HP:0009554 Projection of scalp hair onto lateral cheek OMIM:616176 PRKACG 5568 HP:0001903 Anemia OMIM:616176 PRKACG 5568 HP:0000132 Menorrhagia OMIM:616176 PRKACG 5568 HP:0000421 Epistaxis OMIM:616176 PRKACG 5568 HP:0007420 Spontaneous hematomas OMIM:230650 GLB1 2720 HP:0002869 Flared iliac wings OMIM:230650 GLB1 2720 HP:0004322 Short stature OMIM:230650 GLB1 2720 HP:0003274 Hypoplastic acetabulae OMIM:230650 GLB1 2720 HP:0001350 Slurred speech OMIM:230650 GLB1 2720 HP:0002808 Kyphosis OMIM:230650 GLB1 2720 HP:0000926 Platyspondyly OMIM:230650 GLB1 2720 HP:0007759 Opacification of the corneal stroma OMIM:230650 GLB1 2720 HP:0000007 Autosomal recessive inheritance OMIM:230650 GLB1 2720 HP:0008166 Decreased beta-galactosidase activity OMIM:230650 GLB1 2720 HP:0001871 Abnormality of blood and blood-forming tissues OMIM:230650 GLB1 2720 HP:0002506 Diffuse cerebral atrophy OMIM:230650 GLB1 2720 HP:0003651 Foam cells OMIM:230650 GLB1 2720 HP:0002650 Scoliosis OMIM:230650 GLB1 2720 HP:0008430 Anterior beaking of lumbar vertebrae OMIM:230650 GLB1 2720 HP:0003202 Skeletal muscle atrophy OMIM:230650 GLB1 2720 HP:0000271 Abnormality of the face OMIM:230650 GLB1 2720 HP:0001332 Dystonia OMIM:230650 GLB1 2720 HP:0001256 Intellectual disability, mild OMIM:170500 SCN4A 6329 HP:0001276 Hypertonia OMIM:170500 SCN4A 6329 HP:0003326 Myalgia OMIM:170500 SCN4A 6329 HP:0004305 Involuntary movements OMIM:170500 SCN4A 6329 HP:0000006 Autosomal dominant inheritance OMIM:170500 SCN4A 6329 HP:0001371 Flexion contracture OMIM:170500 SCN4A 6329 HP:0100021 Cerebral palsy OMIM:170500 SCN4A 6329 HP:0002486 Myotonia OMIM:170500 SCN4A 6329 HP:0002607 Bowel incontinence OMIM:170500 SCN4A 6329 HP:0001288 Gait disturbance OMIM:170500 SCN4A 6329 HP:0003198 Myopathy OMIM:170500 SCN4A 6329 HP:0002093 Respiratory insufficiency OMIM:170500 SCN4A 6329 HP:0007215 Periodic hyperkalemic paralysis OMIM:170500 SCN4A 6329 HP:0002153 Hyperkalemia OMIM:170500 SCN4A 6329 HP:0003401 Paresthesia OMIM:170500 SCN4A 6329 HP:0003457 EMG abnormality OMIM:170500 SCN4A 6329 HP:0002047 Malignant hyperthermia OMIM:170500 SCN4A 6329 HP:0003712 Skeletal muscle hypertrophy OMIM:170500 SCN4A 6329 HP:0000597 Ophthalmoparesis OMIM:170500 SCN4A 6329 HP:0003202 Skeletal muscle atrophy OMIM:170500 SCN4A 6329 HP:0003752 Episodic flaccid weakness OMIM:170500 SCN4A 6329 HP:0001315 Reduced tendon reflexes OMIM:170500 SCN4A 6329 HP:0001635 Congestive heart failure OMIM:170500 SCN4A 6329 HP:0011675 Arrhythmia OMIM:170500 SCN4A 6329 HP:0002902 Hyponatremia OMIM:170500 SCN4A 6329 HP:0008872 Feeding difficulties in infancy OMIM:170500 SCN4A 6329 HP:0002900 Hypokalemia OMIM:170500 SCN4A 6329 HP:0003593 Infantile onset OMIM:170500 SCN4A 6329 HP:0100749 Chest pain OMIM:615716 PGAP3 93210 HP:0001249 Intellectual disability OMIM:615716 PGAP3 93210 HP:0010804 Tented upper lip vermilion OMIM:615716 PGAP3 93210 HP:0000175 Cleft palate OMIM:615716 PGAP3 93210 HP:0000252 Microcephaly OMIM:615716 PGAP3 93210 HP:0001252 Muscular hypotonia OMIM:615716 PGAP3 93210 HP:0003763 Bruxism OMIM:615716 PGAP3 93210 HP:0003155 Elevated alkaline phosphatase OMIM:615716 PGAP3 93210 HP:0001263 Global developmental delay OMIM:615716 PGAP3 93210 HP:0000431 Wide nasal bridge OMIM:615716 PGAP3 93210 HP:0002540 Inability to walk OMIM:615716 PGAP3 93210 HP:0001510 Growth delay OMIM:615716 PGAP3 93210 HP:0000582 Upslanted palpebral fissure OMIM:615716 PGAP3 93210 HP:0001250 Seizures OMIM:615716 PGAP3 93210 HP:0000219 Thin upper lip vermilion OMIM:615716 PGAP3 93210 HP:0000455 Broad nasal tip OMIM:615716 PGAP3 93210 HP:0000316 Hypertelorism OMIM:615716 PGAP3 93210 HP:0004305 Involuntary movements OMIM:300048 FLNA 2316 HP:0001264 Spastic diplegia OMIM:300048 FLNA 2316 HP:0002013 Vomiting OMIM:300048 FLNA 2316 HP:0000319 Smooth philtrum OMIM:300048 FLNA 2316 HP:0001419 X-linked recessive inheritance OMIM:300048 FLNA 2316 HP:0001999 Abnormal facial shape OMIM:300048 FLNA 2316 HP:0000494 Downslanted palpebral fissures OMIM:300048 FLNA 2316 HP:0001873 Thrombocytopenia OMIM:300048 FLNA 2316 HP:0000316 Hypertelorism OMIM:300048 FLNA 2316 HP:0000126 Hydronephrosis OMIM:300048 FLNA 2316 HP:0003593 Infantile onset OMIM:300048 FLNA 2316 HP:0002021 Pyloric stenosis OMIM:300048 FLNA 2316 HP:0008872 Feeding difficulties in infancy OMIM:300048 FLNA 2316 HP:0003270 Abdominal distention OMIM:300048 FLNA 2316 HP:0001250 Seizures OMIM:300048 FLNA 2316 HP:0001643 Patent ductus arteriosus OMIM:300048 FLNA 2316 HP:0000369 Low-set ears OMIM:300048 FLNA 2316 HP:0011877 Increased mean platelet volume OMIM:300048 FLNA 2316 HP:0004389 Intestinal pseudo-obstruction OMIM:300048 FLNA 2316 HP:0002566 Intestinal malrotation ORPHANET:477 GJB6 10804 HP:0000384 Preauricular skin tag ORPHANET:477 GJB6 10804 HP:0004322 Short stature ORPHANET:477 GJB6 10804 HP:0000684 Delayed eruption of teeth ORPHANET:477 GJB6 10804 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:477 GJB6 10804 HP:0002750 Delayed skeletal maturation ORPHANET:477 GJB6 10804 HP:0000505 Visual impairment ORPHANET:477 GJB6 10804 HP:0000028 Cryptorchidism ORPHANET:477 GJB6 10804 HP:0001800 Hypoplastic toenails ORPHANET:477 GJB6 10804 HP:0002251 Aganglionic megacolon ORPHANET:477 GJB6 10804 HP:0001315 Reduced tendon reflexes ORPHANET:477 GJB6 10804 HP:0011362 Abnormal hair quantity ORPHANET:477 GJB6 10804 HP:0200042 Skin ulcer ORPHANET:477 GJB6 10804 HP:0200020 Corneal erosion ORPHANET:477 GJB6 10804 HP:0000613 Photophobia ORPHANET:477 GJB6 10804 HP:0000982 Palmoplantar keratoderma ORPHANET:477 GJB6 10804 HP:0000221 Furrowed tongue ORPHANET:477 GJB6 10804 HP:0002797 Osteolysis ORPHANET:477 GJB6 10804 HP:0001034 Hypermelanotic macule ORPHANET:477 GJB6 10804 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:477 GJB6 10804 HP:0000670 Carious teeth ORPHANET:477 GJB6 10804 HP:0004374 Hemiplegia/hemiparesis ORPHANET:477 GJB6 10804 HP:0100543 Cognitive impairment ORPHANET:477 GJB6 10804 HP:0007759 Opacification of the corneal stroma ORPHANET:477 GJB6 10804 HP:0010978 Abnormality of immune system physiology ORPHANET:477 GJB6 10804 HP:0008064 Ichthyosis ORPHANET:477 GJB6 10804 HP:0000499 Abnormality of the eyelashes ORPHANET:477 GJB6 10804 HP:0001231 Abnormality of the fingernails ORPHANET:477 GJB6 10804 HP:0008069 Neoplasm of the skin ORPHANET:477 GJB6 10804 HP:0001025 Urticaria ORPHANET:477 GJB6 10804 HP:0000966 Hypohidrosis ORPHANET:477 GJB6 10804 HP:0000407 Sensorineural hearing impairment ORPHANET:477 GJB6 10804 HP:0002213 Fine hair ORPHANET:477 GJB6 10804 HP:0001369 Arthritis ORPHANET:477 GJB6 10804 HP:0100533 Inflammatory abnormality of the eye ORPHANET:477 GJB2 2706 HP:0000384 Preauricular skin tag ORPHANET:477 GJB2 2706 HP:0004322 Short stature ORPHANET:477 GJB2 2706 HP:0000684 Delayed eruption of teeth ORPHANET:477 GJB2 2706 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:477 GJB2 2706 HP:0002750 Delayed skeletal maturation ORPHANET:477 GJB2 2706 HP:0000505 Visual impairment ORPHANET:477 GJB2 2706 HP:0000028 Cryptorchidism ORPHANET:477 GJB2 2706 HP:0001800 Hypoplastic toenails ORPHANET:477 GJB2 2706 HP:0002251 Aganglionic megacolon ORPHANET:477 GJB2 2706 HP:0001315 Reduced tendon reflexes ORPHANET:477 GJB2 2706 HP:0011362 Abnormal hair quantity ORPHANET:477 GJB2 2706 HP:0200042 Skin ulcer ORPHANET:477 GJB2 2706 HP:0200020 Corneal erosion ORPHANET:477 GJB2 2706 HP:0000613 Photophobia ORPHANET:477 GJB2 2706 HP:0000982 Palmoplantar keratoderma ORPHANET:477 GJB2 2706 HP:0000221 Furrowed tongue ORPHANET:477 GJB2 2706 HP:0002797 Osteolysis ORPHANET:477 GJB2 2706 HP:0001034 Hypermelanotic macule ORPHANET:477 GJB2 2706 HP:0100840 Aplasia/Hypoplasia of the eyebrow ORPHANET:477 GJB2 2706 HP:0000670 Carious teeth ORPHANET:477 GJB2 2706 HP:0004374 Hemiplegia/hemiparesis ORPHANET:477 GJB2 2706 HP:0100543 Cognitive impairment ORPHANET:477 GJB2 2706 HP:0007759 Opacification of the corneal stroma ORPHANET:477 GJB2 2706 HP:0010978 Abnormality of immune system physiology ORPHANET:477 GJB2 2706 HP:0008064 Ichthyosis ORPHANET:477 GJB2 2706 HP:0000499 Abnormality of the eyelashes ORPHANET:477 GJB2 2706 HP:0001231 Abnormality of the fingernails ORPHANET:477 GJB2 2706 HP:0008069 Neoplasm of the skin ORPHANET:477 GJB2 2706 HP:0001025 Urticaria ORPHANET:477 GJB2 2706 HP:0000966 Hypohidrosis ORPHANET:477 GJB2 2706 HP:0000407 Sensorineural hearing impairment ORPHANET:477 GJB2 2706 HP:0002213 Fine hair ORPHANET:477 GJB2 2706 HP:0001369 Arthritis ORPHANET:477 GJB2 2706 HP:0100533 Inflammatory abnormality of the eye OMIM:613845 SARS2 54938 HP:0002149 Hyperuricemia OMIM:613845 SARS2 54938 HP:0000103 Polyuria OMIM:613845 SARS2 54938 HP:0003593 Infantile onset OMIM:613845 SARS2 54938 HP:0002902 Hyponatremia OMIM:613845 SARS2 54938 HP:0000819 Diabetes mellitus OMIM:613845 SARS2 54938 HP:0000093 Proteinuria OMIM:613845 SARS2 54938 HP:0011968 Feeding difficulties OMIM:613845 SARS2 54938 HP:0001252 Muscular hypotonia OMIM:613845 SARS2 54938 HP:0012622 Chronic kidney disease OMIM:613845 SARS2 54938 HP:0001903 Anemia OMIM:613845 SARS2 54938 HP:0002092 Pulmonary hypertension OMIM:613845 SARS2 54938 HP:0001508 Failure to thrive OMIM:613845 SARS2 54938 HP:0003554 Type 2 muscle fiber atrophy OMIM:613845 SARS2 54938 HP:0002917 Hypomagnesemia OMIM:613845 SARS2 54938 HP:0002878 Respiratory failure OMIM:613845 SARS2 54938 HP:0001873 Thrombocytopenia OMIM:613845 SARS2 54938 HP:0005977 Hypochloremic metabolic alkalosis OMIM:613845 SARS2 54938 HP:0001622 Premature birth OMIM:613845 SARS2 54938 HP:0000007 Autosomal recessive inheritance OMIM:613845 SARS2 54938 HP:0004719 Hyperechogenic kidneys OMIM:613845 SARS2 54938 HP:0000127 Renal salt wasting OMIM:613845 SARS2 54938 HP:0001882 Leukopenia OMIM:604302 MIF 4282 HP:0001369 Arthritis OMIM:604302 MIF 4282 HP:0001386 Joint swelling OMIM:604302 MIF 4282 HP:0002829 Arthralgia OMIM:604302 MIF 4282 HP:0000988 Skin rash OMIM:604302 MIF 4282 HP:0004370 Abnormality of temperature regulation OMIM:604302 MIF 4282 HP:0002960 Autoimmunity OMIM:604302 MIF 4282 HP:0001697 Abnormality of the pericardium OMIM:604302 MIF 4282 HP:0001744 Splenomegaly OMIM:604302 MIF 4282 HP:0100721 Mediastinal lymphadenopathy OMIM:604302 MIF 4282 HP:0002240 Hepatomegaly OMIM:604302 MIF 4282 HP:0002103 Abnormality of the pleura OMIM:604302 MIF 4282 HP:0002027 Abdominal pain OMIM:607685 PDGFRA 5156 HP:0000707 Abnormality of the nervous system OMIM:607685 PDGFRA 5156 HP:0000989 Pruritus OMIM:607685 PDGFRA 5156 HP:0004936 Venous thrombosis OMIM:607685 PDGFRA 5156 HP:0001723 Restrictive cardiomyopathy OMIM:607685 PDGFRA 5156 HP:0002113 Pulmonary infiltrates OMIM:607685 PDGFRA 5156 HP:0003745 Sporadic OMIM:607685 PDGFRA 5156 HP:0005547 Myeloproliferative disorder OMIM:607685 PDGFRA 5156 HP:0001744 Splenomegaly OMIM:607685 PDGFRA 5156 HP:0006685 Endocardial fibrosis OMIM:607685 PDGFRA 5156 HP:0002240 Hepatomegaly OMIM:607685 PDGFRA 5156 HP:0001880 Eosinophilia OMIM:607685 PDGFRA 5156 HP:0003326 Myalgia OMIM:607685 PDGFRA 5156 HP:0001428 Somatic mutation OMIM:123320 CAV3 859 HP:0000006 Autosomal dominant inheritance OMIM:123320 CAV3 859 HP:0003710 Exercise-induced muscle cramps OMIM:123320 CAV3 859 HP:0003236 Elevated serum creatine phosphokinase OMIM:220600 DLX5 1749 HP:0002650 Scoliosis OMIM:220600 DLX5 1749 HP:0001597 Abnormality of the nail OMIM:220600 DLX5 1749 HP:0003510 Severe short stature OMIM:220600 DLX5 1749 HP:0000407 Sensorineural hearing impairment OMIM:220600 DLX5 1749 HP:0001182 Tapered finger OMIM:220600 DLX5 1749 HP:0000007 Autosomal recessive inheritance OMIM:220600 DLX5 1749 HP:0001171 Split hand OMIM:220600 DLX5 1749 HP:0001839 Split foot OMIM:614678 EXOSC3 51010 HP:0000486 Strabismus OMIM:614678 EXOSC3 51010 HP:0001272 Cerebellar atrophy OMIM:614678 EXOSC3 51010 HP:0001510 Growth delay OMIM:614678 EXOSC3 51010 HP:0012473 Tongue atrophy OMIM:614678 EXOSC3 51010 HP:0000007 Autosomal recessive inheritance OMIM:614678 EXOSC3 51010 HP:0000253 Progressive microcephaly OMIM:614678 EXOSC3 51010 HP:0011968 Feeding difficulties OMIM:614678 EXOSC3 51010 HP:0000657 Oculomotor apraxia OMIM:614678 EXOSC3 51010 HP:0001347 Hyperreflexia OMIM:614678 EXOSC3 51010 HP:0003577 Congenital onset OMIM:614678 EXOSC3 51010 HP:0002827 Hip dislocation OMIM:614678 EXOSC3 51010 HP:0008936 Muscular hypotonia of the trunk OMIM:614678 EXOSC3 51010 HP:0000556 Retinal dystrophy OMIM:614678 EXOSC3 51010 HP:0001250 Seizures OMIM:614678 EXOSC3 51010 HP:0000639 Nystagmus OMIM:614678 EXOSC3 51010 HP:0002059 Cerebral atrophy OMIM:614678 EXOSC3 51010 HP:0002350 Cerebellar cyst OMIM:614678 EXOSC3 51010 HP:0002093 Respiratory insufficiency OMIM:614678 EXOSC3 51010 HP:0002421 Poor head control OMIM:614678 EXOSC3 51010 HP:0001344 Absent speech OMIM:614678 EXOSC3 51010 HP:0001308 Tongue fasciculations OMIM:614678 EXOSC3 51010 HP:0003202 Skeletal muscle atrophy OMIM:614678 EXOSC3 51010 HP:0001263 Global developmental delay OMIM:614678 EXOSC3 51010 HP:0001257 Spasticity OMIM:614678 EXOSC3 51010 HP:0001760 Abnormality of the foot OMIM:614678 EXOSC3 51010 HP:0001371 Flexion contracture OMIM:212350 AGK 55750 HP:0004901 Exercise-induced lactic acidemia OMIM:212350 AGK 55750 HP:0003198 Myopathy OMIM:212350 AGK 55750 HP:0000639 Nystagmus OMIM:212350 AGK 55750 HP:0003388 Easy fatigability OMIM:212350 AGK 55750 HP:0000007 Autosomal recessive inheritance OMIM:212350 AGK 55750 HP:0000486 Strabismus OMIM:212350 AGK 55750 HP:0001639 Hypertrophic cardiomyopathy OMIM:212350 AGK 55750 HP:0003828 Variable expressivity OMIM:212350 AGK 55750 HP:0003593 Infantile onset OMIM:212350 AGK 55750 HP:0003546 Exercise intolerance OMIM:212350 AGK 55750 HP:0001873 Thrombocytopenia OMIM:212350 AGK 55750 HP:0002151 Increased serum lactate OMIM:212350 AGK 55750 HP:0003737 Mitochondrial myopathy OMIM:212350 AGK 55750 HP:0001252 Muscular hypotonia OMIM:212350 AGK 55750 HP:0002093 Respiratory insufficiency OMIM:212350 AGK 55750 HP:0000519 Congenital cataract OMIM:212350 AGK 55750 HP:0000545 Myopia OMIM:212350 AGK 55750 HP:0001270 Motor delay OMIM:212350 AGK 55750 HP:0001510 Growth delay OMIM:212350 AGK 55750 HP:0012378 Fatigue OMIM:212350 AGK 55750 HP:0003535 3-Methylglutaconic aciduria OMIM:212350 AGK 55750 HP:0000501 Glaucoma OMIM:212350 AGK 55750 HP:0001324 Muscle weakness OMIM:239100 SOST 50964 HP:0011001 Increased bone mineral density OMIM:239100 SOST 50964 HP:0007958 Optic atrophy from cranial nerve compression OMIM:239100 SOST 50964 HP:0006824 Cranial nerve paralysis OMIM:239100 SOST 50964 HP:0004437 Cranial hyperostosis OMIM:239100 SOST 50964 HP:0003155 Elevated alkaline phosphatase OMIM:239100 SOST 50964 HP:0000007 Autosomal recessive inheritance OMIM:239100 SOST 50964 HP:0000365 Hearing impairment OMIM:239100 SOST 50964 HP:0000935 Thickened cortex of long bones OMIM:239100 SOST 50964 HP:0002315 Headache ORPHANET:189427 ARMC5 79798 HP:0002858 Meningioma ORPHANET:189427 ARMC5 79798 HP:0000787 Nephrolithiasis ORPHANET:189427 ARMC5 79798 HP:0000963 Thin skin ORPHANET:189427 ARMC5 79798 HP:0000140 Abnormality of the menstrual cycle ORPHANET:189427 ARMC5 79798 HP:0000311 Round face ORPHANET:189427 ARMC5 79798 HP:0000822 Hypertension ORPHANET:189427 ARMC5 79798 HP:0004349 Reduced bone mineral density ORPHANET:189427 ARMC5 79798 HP:0000978 Bruising susceptibility ORPHANET:189427 ARMC5 79798 HP:0000998 Hypertrichosis ORPHANET:189427 ARMC5 79798 HP:0000819 Diabetes mellitus ORPHANET:189427 ARMC5 79798 HP:0001578 Hypercortisolism ORPHANET:189427 ARMC5 79798 HP:0000708 Behavioral abnormality ORPHANET:189427 ARMC5 79798 HP:0001324 Muscle weakness ORPHANET:189427 ARMC5 79798 HP:0001956 Truncal obesity OMIM:142680 TNFRSF1A 7132 HP:0002829 Arthralgia OMIM:142680 TNFRSF1A 7132 HP:0002027 Abdominal pain OMIM:142680 TNFRSF1A 7132 HP:0100537 Fasciitis OMIM:142680 TNFRSF1A 7132 HP:0002019 Constipation OMIM:142680 TNFRSF1A 7132 HP:0000112 Nephropathy OMIM:142680 TNFRSF1A 7132 HP:0000708 Behavioral abnormality OMIM:142680 TNFRSF1A 7132 HP:0002017 Nausea and vomiting OMIM:142680 TNFRSF1A 7132 HP:0100658 Cellulitis OMIM:142680 TNFRSF1A 7132 HP:0100776 Recurrent pharyngitis OMIM:142680 TNFRSF1A 7132 HP:0000978 Bruising susceptibility OMIM:142680 TNFRSF1A 7132 HP:0011034 Amyloidosis OMIM:142680 TNFRSF1A 7132 HP:0001596 Alopecia OMIM:142680 TNFRSF1A 7132 HP:0012280 Hepatic amyloidosis OMIM:142680 TNFRSF1A 7132 HP:0002103 Abnormality of the pleura OMIM:142680 TNFRSF1A 7132 HP:0001034 Hypermelanotic macule OMIM:142680 TNFRSF1A 7132 HP:0100781 Abnormality of the sacroiliac joint OMIM:142680 TNFRSF1A 7132 HP:0001744 Splenomegaly OMIM:142680 TNFRSF1A 7132 HP:0001055 Erysipelas OMIM:142680 TNFRSF1A 7132 HP:0100796 Orchitis OMIM:142680 TNFRSF1A 7132 HP:0003401 Paresthesia OMIM:142680 TNFRSF1A 7132 HP:0000988 Skin rash OMIM:142680 TNFRSF1A 7132 HP:0000006 Autosomal dominant inheritance OMIM:142680 TNFRSF1A 7132 HP:0002076 Migraine OMIM:142680 TNFRSF1A 7132 HP:0002014 Diarrhea OMIM:142680 TNFRSF1A 7132 HP:0003552 Muscle stiffness OMIM:142680 TNFRSF1A 7132 HP:0100539 Periorbital edema OMIM:142680 TNFRSF1A 7132 HP:0001697 Abnormality of the pericardium OMIM:142680 TNFRSF1A 7132 HP:0002240 Hepatomegaly OMIM:142680 TNFRSF1A 7132 HP:0003326 Myalgia OMIM:142680 TNFRSF1A 7132 HP:0100749 Chest pain OMIM:142680 TNFRSF1A 7132 HP:0000505 Visual impairment OMIM:142680 TNFRSF1A 7132 HP:0001369 Arthritis OMIM:142680 TNFRSF1A 7132 HP:0006824 Cranial nerve paralysis OMIM:142680 TNFRSF1A 7132 HP:0100614 Myositis OMIM:142680 TNFRSF1A 7132 HP:0002633 Vasculitis OMIM:142680 TNFRSF1A 7132 HP:0002321 Vertigo OMIM:142680 TNFRSF1A 7132 HP:0000163 Abnormality of the oral cavity OMIM:142680 TNFRSF1A 7132 HP:0002586 Peritonitis OMIM:142680 TNFRSF1A 7132 HP:0005214 Intestinal obstruction OMIM:142680 TNFRSF1A 7132 HP:0100533 Inflammatory abnormality of the eye OMIM:142680 TNFRSF1A 7132 HP:0001677 Coronary artery disease OMIM:142680 TNFRSF1A 7132 HP:0000969 Edema OMIM:142680 TNFRSF1A 7132 HP:0001954 Episodic fever OMIM:142680 TNFRSF1A 7132 HP:0001637 Abnormality of the myocardium OMIM:142680 TNFRSF1A 7132 HP:0003565 Elevated erythrocyte sedimentation rate OMIM:142680 TNFRSF1A 7132 HP:0002910 Elevated hepatic transaminases OMIM:142680 TNFRSF1A 7132 HP:0001974 Leukocytosis OMIM:603720 STRC 161497 HP:0000006 Autosomal dominant inheritance OMIM:603720 STRC 161497 HP:0000407 Sensorineural hearing impairment OMIM:615829 AHDC1 27245 HP:0002870 Obstructive sleep apnea OMIM:615829 AHDC1 27245 HP:0000316 Hypertelorism OMIM:615829 AHDC1 27245 HP:0001508 Failure to thrive OMIM:615829 AHDC1 27245 HP:0000494 Downslanted palpebral fissures OMIM:615829 AHDC1 27245 HP:0002079 Hypoplasia of the corpus callosum OMIM:615829 AHDC1 27245 HP:0001252 Muscular hypotonia OMIM:615829 AHDC1 27245 HP:0012448 Delayed myelination OMIM:615829 AHDC1 27245 HP:0005280 Depressed nasal bridge OMIM:615829 AHDC1 27245 HP:0000369 Low-set ears OMIM:615829 AHDC1 27245 HP:0000582 Upslanted palpebral fissure OMIM:615829 AHDC1 27245 HP:0001263 Global developmental delay OMIM:615829 AHDC1 27245 HP:0000347 Micrognathia OMIM:615829 AHDC1 27245 HP:0006951 Retrocerebellar cyst OMIM:615829 AHDC1 27245 HP:0001249 Intellectual disability OMIM:615829 AHDC1 27245 HP:0001601 Laryngomalacia OMIM:615829 AHDC1 27245 HP:0009909 Uplifted earlobe OMIM:615829 AHDC1 27245 HP:0009879 Cortical gyral simplification OMIM:615829 AHDC1 27245 HP:0000565 Esotropia OMIM:616313 CHRNB1 1140 HP:0000275 Narrow face OMIM:616313 CHRNB1 1140 HP:0000218 High palate OMIM:616313 CHRNB1 1140 HP:0000276 Long face OMIM:616313 CHRNB1 1140 HP:0000508 Ptosis OMIM:616313 CHRNB1 1140 HP:0001371 Flexion contracture OMIM:616313 CHRNB1 1140 HP:0000602 Ophthalmoplegia OMIM:616313 CHRNB1 1140 HP:0003388 Easy fatigability OMIM:616313 CHRNB1 1140 HP:0010628 Facial palsy OMIM:616313 CHRNB1 1140 HP:0003202 Skeletal muscle atrophy OMIM:616313 CHRNB1 1140 HP:0001252 Muscular hypotonia OMIM:613986 OTX2 5015 HP:0004322 Short stature OMIM:613986 OTX2 5015 HP:0000006 Autosomal dominant inheritance OMIM:613986 OTX2 5015 HP:0011755 Ectopic posterior pituitary OMIM:615300 LARS2 23395 HP:0000786 Primary amenorrhea OMIM:615300 LARS2 23395 HP:0000130 Abnormality of the uterus OMIM:615300 LARS2 23395 HP:0000007 Autosomal recessive inheritance OMIM:615300 LARS2 23395 HP:0008209 Premature ovarian failure OMIM:615300 LARS2 23395 HP:0001730 Progressive hearing impairment OMIM:300749 CASK 8573 HP:0001257 Spasticity OMIM:300749 CASK 8573 HP:0000543 Optic disc pallor OMIM:300749 CASK 8573 HP:0000567 Chorioretinal coloboma OMIM:300749 CASK 8573 HP:0007227 Macrogyria OMIM:300749 CASK 8573 HP:0000648 Optic atrophy OMIM:300749 CASK 8573 HP:0001290 Generalized hypotonia OMIM:300749 CASK 8573 HP:0000545 Myopia OMIM:300749 CASK 8573 HP:0000316 Hypertelorism OMIM:300749 CASK 8573 HP:0001250 Seizures OMIM:300749 CASK 8573 HP:0000347 Micrognathia OMIM:300749 CASK 8573 HP:0000366 Abnormality of the nose OMIM:300749 CASK 8573 HP:0000407 Sensorineural hearing impairment OMIM:300749 CASK 8573 HP:0008936 Muscular hypotonia of the trunk OMIM:300749 CASK 8573 HP:0001344 Absent speech OMIM:300749 CASK 8573 HP:0002120 Cerebral cortical atrophy OMIM:300749 CASK 8573 HP:0000505 Visual impairment OMIM:300749 CASK 8573 HP:0000609 Optic nerve hypoplasia OMIM:300749 CASK 8573 HP:0002198 Dilated fourth ventricle OMIM:300749 CASK 8573 HP:0003196 Short nose OMIM:300749 CASK 8573 HP:0002650 Scoliosis OMIM:300749 CASK 8573 HP:0002342 Intellectual disability, moderate OMIM:300749 CASK 8573 HP:0000252 Microcephaly OMIM:300749 CASK 8573 HP:0002167 Neurological speech impairment OMIM:300749 CASK 8573 HP:0000286 Epicanthus OMIM:300749 CASK 8573 HP:0000343 Long philtrum OMIM:300749 CASK 8573 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:300749 CASK 8573 HP:0001999 Abnormal facial shape OMIM:300749 CASK 8573 HP:0001423 X-linked dominant inheritance OMIM:300749 CASK 8573 HP:0004322 Short stature OMIM:300749 CASK 8573 HP:0001263 Global developmental delay OMIM:300749 CASK 8573 HP:0100543 Cognitive impairment OMIM:300749 CASK 8573 HP:0000400 Macrotia OMIM:300749 CASK 8573 HP:0001288 Gait disturbance OMIM:300749 CASK 8573 HP:0000486 Strabismus OMIM:300749 CASK 8573 HP:0000426 Prominent nasal bridge OMIM:300749 CASK 8573 HP:0008897 Postnatal growth retardation OMIM:300749 CASK 8573 HP:0001276 Hypertonia OMIM:300749 CASK 8573 HP:0001321 Cerebellar hypoplasia OMIM:300749 CASK 8573 HP:0004325 Decreased body weight OMIM:300749 CASK 8573 HP:0000639 Nystagmus OMIM:300749 CASK 8573 HP:0000337 Broad forehead OMIM:300749 CASK 8573 HP:0000455 Broad nasal tip OMIM:300749 CASK 8573 HP:0000518 Cataract OMIM:300749 CASK 8573 HP:0000431 Wide nasal bridge OMIM:188400 TBX1 6899 HP:0100753 Schizophrenia OMIM:188400 TBX1 6899 HP:0000581 Blepharophimosis OMIM:188400 TBX1 6899 HP:0000777 Abnormality of the thymus OMIM:188400 TBX1 6899 HP:0001537 Umbilical hernia OMIM:188400 TBX1 6899 HP:0000126 Hydronephrosis OMIM:188400 TBX1 6899 HP:0000370 Abnormality of the middle ear OMIM:188400 TBX1 6899 HP:0002627 Right aortic arch with mirror image branching OMIM:188400 TBX1 6899 HP:0000577 Exotropia OMIM:188400 TBX1 6899 HP:0000175 Cleft palate OMIM:188400 TBX1 6899 HP:0000322 Short philtrum OMIM:188400 TBX1 6899 HP:0000369 Low-set ears OMIM:188400 TBX1 6899 HP:0008211 Parathyroid agenesis OMIM:188400 TBX1 6899 HP:0011611 Interrupted aortic arch OMIM:188400 TBX1 6899 HP:0001263 Global developmental delay OMIM:188400 TBX1 6899 HP:0005435 Impaired T cell function OMIM:188400 TBX1 6899 HP:0001660 Truncus arteriosus OMIM:188400 TBX1 6899 HP:0001611 Nasal speech OMIM:188400 TBX1 6899 HP:0000821 Hypothyroidism OMIM:188400 TBX1 6899 HP:0100541 Femoral hernia OMIM:188400 TBX1 6899 HP:0001281 Tetany OMIM:188400 TBX1 6899 HP:0001629 Ventricular septal defect OMIM:188400 TBX1 6899 HP:0012745 Short palpebral fissure OMIM:188400 TBX1 6899 HP:0000122 Unilateral renal agenesis OMIM:188400 TBX1 6899 HP:0000218 High palate OMIM:188400 TBX1 6899 HP:0000347 Micrognathia OMIM:188400 TBX1 6899 HP:0001636 Tetralogy of Fallot OMIM:188400 TBX1 6899 HP:0001513 Obesity OMIM:188400 TBX1 6899 HP:0001328 Specific learning disability OMIM:188400 TBX1 6899 HP:0001643 Patent ductus arteriosus OMIM:188400 TBX1 6899 HP:0000646 Amblyopia OMIM:188400 TBX1 6899 HP:0000193 Bifid uvula OMIM:188400 TBX1 6899 HP:0001051 Seborrheic dermatitis OMIM:188400 TBX1 6899 HP:0007302 Bipolar affective disorder OMIM:188400 TBX1 6899 HP:0000565 Esotropia OMIM:188400 TBX1 6899 HP:0002719 Recurrent infections OMIM:188400 TBX1 6899 HP:0000006 Autosomal dominant inheritance OMIM:188400 TBX1 6899 HP:0000023 Inguinal hernia OMIM:188400 TBX1 6899 HP:0007018 Attention deficit hyperactivity disorder OMIM:188400 TBX1 6899 HP:0000860 Parathyroid hypoplasia OMIM:188400 TBX1 6899 HP:0000110 Renal dysplasia OMIM:188400 TBX1 6899 HP:0000316 Hypertelorism OMIM:188400 TBX1 6899 HP:0002650 Scoliosis OMIM:188400 TBX1 6899 HP:0000627 Posterior embryotoxon OMIM:188400 TBX1 6899 HP:0001250 Seizures OMIM:188400 TBX1 6899 HP:0001081 Cholelithiasis OMIM:188400 TBX1 6899 HP:0000750 Delayed speech and language development OMIM:188400 TBX1 6899 HP:0001061 Acne OMIM:188400 TBX1 6899 HP:0000647 Sclerocornea OMIM:188400 TBX1 6899 HP:0004322 Short stature OMIM:188400 TBX1 6899 HP:0002901 Hypocalcemia OMIM:612069 TARDBP 23435 HP:0000734 Disinhibition OMIM:612069 TARDBP 23435 HP:0007354 Amyotrophic lateral sclerosis OMIM:612069 TARDBP 23435 HP:0002015 Dysphagia OMIM:612069 TARDBP 23435 HP:0000733 Stereotypic behavior OMIM:612069 TARDBP 23435 HP:0001260 Dysarthria OMIM:612069 TARDBP 23435 HP:0000006 Autosomal dominant inheritance OMIM:612069 TARDBP 23435 HP:0001257 Spasticity OMIM:612069 TARDBP 23435 HP:0003678 Rapidly progressive OMIM:612069 TARDBP 23435 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:612069 TARDBP 23435 HP:0030223 Perseveration OMIM:612069 TARDBP 23435 HP:0000741 Apathy OMIM:612069 TARDBP 23435 HP:0003202 Skeletal muscle atrophy OMIM:612069 TARDBP 23435 HP:0000712 Emotional lability OMIM:612069 TARDBP 23435 HP:0003487 Babinski sign OMIM:608716 ASPM 259266 HP:0001270 Motor delay OMIM:608716 ASPM 259266 HP:0001250 Seizures OMIM:608716 ASPM 259266 HP:0003577 Congenital onset OMIM:608716 ASPM 259266 HP:0001249 Intellectual disability OMIM:608716 ASPM 259266 HP:0004322 Short stature OMIM:608716 ASPM 259266 HP:0002472 Small cerebral cortex OMIM:608716 ASPM 259266 HP:0000750 Delayed speech and language development OMIM:608716 ASPM 259266 HP:0007018 Attention deficit hyperactivity disorder OMIM:608716 ASPM 259266 HP:0002119 Ventriculomegaly OMIM:608716 ASPM 259266 HP:0000252 Microcephaly OMIM:608716 ASPM 259266 HP:0009879 Cortical gyral simplification OMIM:608716 ASPM 259266 HP:0000365 Hearing impairment OMIM:608716 ASPM 259266 HP:0000340 Sloping forehead OMIM:608716 ASPM 259266 HP:0000007 Autosomal recessive inheritance OMIM:608716 ASPM 259266 HP:0002539 Cortical dysplasia OMIM:608716 ASPM 259266 HP:0001274 Agenesis of corpus callosum ORPHANET:93284 TRAPPC2 6399 HP:0002758 Osteoarthritis ORPHANET:93284 TRAPPC2 6399 HP:0002650 Scoliosis ORPHANET:93284 TRAPPC2 6399 HP:0003272 Abnormality of the hip bone ORPHANET:93284 TRAPPC2 6399 HP:0000470 Short neck ORPHANET:93284 TRAPPC2 6399 HP:0005930 Abnormality of epiphysis morphology ORPHANET:93284 TRAPPC2 6399 HP:0003307 Hyperlordosis ORPHANET:93284 TRAPPC2 6399 HP:0002829 Arthralgia ORPHANET:93284 TRAPPC2 6399 HP:0002652 Skeletal dysplasia ORPHANET:93284 TRAPPC2 6399 HP:0002808 Kyphosis ORPHANET:93284 TRAPPC2 6399 HP:0004322 Short stature ORPHANET:93284 TRAPPC2 6399 HP:0000926 Platyspondyly ORPHANET:93284 TRAPPC2 6399 HP:0003311 Hypoplasia of the odontoid process ORPHANET:93284 TRAPPC2 6399 HP:0010306 Short thorax ORPHANET:93284 TRAPPC2 6399 HP:0002983 Micromelia OMIM:258480 INPPL1 3636 HP:0000767 Pectus excavatum OMIM:258480 INPPL1 3636 HP:0008905 Rhizomelia OMIM:258480 INPPL1 3636 HP:0003173 Hypoplastic pubic bone OMIM:258480 INPPL1 3636 HP:0003196 Short nose OMIM:258480 INPPL1 3636 HP:0000969 Edema OMIM:258480 INPPL1 3636 HP:0000922 Posterior rib cupping OMIM:258480 INPPL1 3636 HP:0001252 Muscular hypotonia OMIM:258480 INPPL1 3636 HP:0001182 Tapered finger OMIM:258480 INPPL1 3636 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:258480 INPPL1 3636 HP:0001538 Protuberant abdomen OMIM:258480 INPPL1 3636 HP:0000470 Short neck OMIM:258480 INPPL1 3636 HP:0001744 Splenomegaly OMIM:258480 INPPL1 3636 HP:0002148 Hypophosphatemia OMIM:258480 INPPL1 3636 HP:0005930 Abnormality of epiphysis morphology OMIM:258480 INPPL1 3636 HP:0002093 Respiratory insufficiency OMIM:258480 INPPL1 3636 HP:0002205 Recurrent respiratory infections OMIM:258480 INPPL1 3636 HP:0003312 Abnormal form of the vertebral bodies OMIM:258480 INPPL1 3636 HP:0009602 Abnormality of thumb phalanx OMIM:258480 INPPL1 3636 HP:0002240 Hepatomegaly OMIM:258480 INPPL1 3636 HP:0008479 Hypoplastic vertebral bodies OMIM:258480 INPPL1 3636 HP:0001561 Polyhydramnios OMIM:258480 INPPL1 3636 HP:0000343 Long philtrum OMIM:258480 INPPL1 3636 HP:0000463 Anteverted nares OMIM:258480 INPPL1 3636 HP:0005280 Depressed nasal bridge OMIM:258480 INPPL1 3636 HP:0001156 Brachydactyly syndrome OMIM:258480 INPPL1 3636 HP:0003180 Flat acetabular roof OMIM:258480 INPPL1 3636 HP:0100569 Abnormal vertebral ossification OMIM:258480 INPPL1 3636 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:258480 INPPL1 3636 HP:0002007 Frontal bossing OMIM:258480 INPPL1 3636 HP:0008873 Disproportionate short-limb short stature OMIM:258480 INPPL1 3636 HP:0001773 Short foot OMIM:258480 INPPL1 3636 HP:0009826 Limb undergrowth OMIM:258480 INPPL1 3636 HP:0002750 Delayed skeletal maturation OMIM:258480 INPPL1 3636 HP:0000117 Renal phosphate wasting OMIM:258480 INPPL1 3636 HP:0004565 Severe platyspondyly OMIM:258480 INPPL1 3636 HP:0003177 Squared iliac bones OMIM:258480 INPPL1 3636 HP:0003175 Hypoplastic ischia OMIM:258480 INPPL1 3636 HP:0000774 Narrow chest OMIM:258480 INPPL1 3636 HP:0000256 Macrocephaly OMIM:258480 INPPL1 3636 HP:0000592 Blue sclerae OMIM:258480 INPPL1 3636 HP:0001376 Limitation of joint mobility OMIM:258480 INPPL1 3636 HP:0004279 Short palm OMIM:258480 INPPL1 3636 HP:0000239 Large fontanelles OMIM:258480 INPPL1 3636 HP:0001591 Bell-shaped thorax OMIM:258480 INPPL1 3636 HP:0003026 Short long bone OMIM:258480 INPPL1 3636 HP:0000007 Autosomal recessive inheritance OMIM:258480 INPPL1 3636 HP:0000944 Abnormality of the metaphyses OMIM:258480 INPPL1 3636 HP:0000316 Hypertelorism OMIM:258480 INPPL1 3636 HP:0000907 Anterior rib cupping OMIM:258480 INPPL1 3636 HP:0003021 Metaphyseal cupping OMIM:606579 NLRP1 22861 HP:0010982 Polygenic inheritance OMIM:606579 NLRP1 22861 HP:0001045 Vitiligo OMIM:606824 SLC5A1 6523 HP:0000007 Autosomal recessive inheritance OMIM:606824 SLC5A1 6523 HP:0003076 Glycosuria OMIM:606824 SLC5A1 6523 HP:0004924 Abnormal oral glucose tolerance OMIM:606824 SLC5A1 6523 HP:0003270 Abdominal distention OMIM:606824 SLC5A1 6523 HP:0001508 Failure to thrive OMIM:606824 SLC5A1 6523 HP:0001986 Hypertonic dehydration OMIM:606824 SLC5A1 6523 HP:0002028 Chronic diarrhea OMIM:606824 SLC5A1 6523 HP:0001942 Metabolic acidosis OMIM:123740 CRYM 1428 HP:0000006 Autosomal dominant inheritance OMIM:123740 CRYM 1428 HP:0000365 Hearing impairment OMIM:604454 TIA1 7072 HP:0003198 Myopathy OMIM:604454 TIA1 7072 HP:0002460 Distal muscle weakness OMIM:604454 TIA1 7072 HP:0003677 Slow progression OMIM:604454 TIA1 7072 HP:0003376 Steppage gait OMIM:604454 TIA1 7072 HP:0000007 Autosomal recessive inheritance OMIM:604454 TIA1 7072 HP:0003693 Distal amyotrophy OMIM:604454 TIA1 7072 HP:0003805 Rimmed vacuoles OMIM:604454 TIA1 7072 HP:0000006 Autosomal dominant inheritance OMIM:604454 TIA1 7072 HP:0008180 Mildly elevated creatine phosphokinase OMIM:608567 SCN5A 6331 HP:0001678 Atrioventricular block OMIM:608567 SCN5A 6331 HP:0011704 Sick sinus syndrome OMIM:608567 SCN5A 6331 HP:0000007 Autosomal recessive inheritance OMIM:608567 SCN5A 6331 HP:0003577 Congenital onset OMIM:608567 SCN5A 6331 HP:0005155 Ventricular escape rhythms OMIM:608567 SCN5A 6331 HP:0001688 Sinus bradycardia OMIM:608567 SCN5A 6331 HP:0001657 Prolonged QT interval OMIM:608567 SCN5A 6331 HP:0000006 Autosomal dominant inheritance OMIM:615547 MAGEL2 54551 HP:0001319 Neonatal hypotonia OMIM:615547 MAGEL2 54551 HP:0002019 Constipation OMIM:615547 MAGEL2 54551 HP:0000028 Cryptorchidism OMIM:615547 MAGEL2 54551 HP:0200055 Small hand OMIM:615547 MAGEL2 54551 HP:0000280 Coarse facial features OMIM:615547 MAGEL2 54551 HP:0002591 Polyphagia OMIM:615547 MAGEL2 54551 HP:0000006 Autosomal dominant inheritance OMIM:615547 MAGEL2 54551 HP:0001263 Global developmental delay OMIM:615547 MAGEL2 54551 HP:0011968 Feeding difficulties OMIM:615547 MAGEL2 54551 HP:0004283 Narrow palm OMIM:615547 MAGEL2 54551 HP:0010535 Sleep apnea OMIM:615547 MAGEL2 54551 HP:0004322 Short stature OMIM:615547 MAGEL2 54551 HP:0000545 Myopia OMIM:615547 MAGEL2 54551 HP:0000565 Esotropia OMIM:615547 MAGEL2 54551 HP:0001249 Intellectual disability OMIM:615547 MAGEL2 54551 HP:0001250 Seizures OMIM:615547 MAGEL2 54551 HP:0001371 Flexion contracture OMIM:615547 MAGEL2 54551 HP:0001531 Failure to thrive in infancy OMIM:615547 MAGEL2 54551 HP:0000135 Hypogonadism OMIM:615547 MAGEL2 54551 HP:0000341 Narrow forehead OMIM:615547 MAGEL2 54551 HP:0000194 Open mouth OMIM:615547 MAGEL2 54551 HP:0001513 Obesity OMIM:615547 MAGEL2 54551 HP:0000054 Micropenis OMIM:615547 MAGEL2 54551 HP:0003593 Infantile onset OMIM:122860 SOST 50964 HP:0003155 Elevated alkaline phosphatase OMIM:122860 SOST 50964 HP:0000365 Hearing impairment OMIM:122860 SOST 50964 HP:0003676 Progressive disorder OMIM:122860 SOST 50964 HP:0000256 Macrocephaly OMIM:122860 SOST 50964 HP:0004493 Craniofacial hyperostosis OMIM:122860 SOST 50964 HP:0000316 Hypertelorism OMIM:122860 SOST 50964 HP:0003593 Infantile onset OMIM:122860 SOST 50964 HP:0000648 Optic atrophy OMIM:122860 SOST 50964 HP:0011120 Concave nasal ridge OMIM:122860 SOST 50964 HP:0005280 Depressed nasal bridge OMIM:122860 SOST 50964 HP:0000529 Progressive visual loss OMIM:122860 SOST 50964 HP:0004322 Short stature OMIM:122860 SOST 50964 HP:0002516 Increased intracranial pressure OMIM:122860 SOST 50964 HP:0000431 Wide nasal bridge OMIM:122860 SOST 50964 HP:0001085 Papilledema OMIM:122860 SOST 50964 HP:0003034 Diaphyseal sclerosis OMIM:122860 SOST 50964 HP:0000900 Thickened ribs OMIM:122860 SOST 50964 HP:0001349 Facial diplegia OMIM:122860 SOST 50964 HP:0005464 Craniofacial osteosclerosis OMIM:122860 SOST 50964 HP:0003165 Elevated circulating parathyroid hormone (PTH) level OMIM:122860 SOST 50964 HP:0002315 Headache OMIM:122860 SOST 50964 HP:0000452 Choanal stenosis OMIM:122860 SOST 50964 HP:0000006 Autosomal dominant inheritance OMIM:609529 TNFRSF13B 23495 HP:0012140 Abnormality of cells of the lymphoid lineage OMIM:609529 TNFRSF13B 23495 HP:0005425 Recurrent sinopulmonary infections OMIM:609529 TNFRSF13B 23495 HP:0004798 Recurrent infection of the gastrointestinal tract OMIM:609529 TNFRSF13B 23495 HP:0002720 IgA deficiency OMIM:609529 TNFRSF13B 23495 HP:0002960 Autoimmunity ORPHANET:98849 KIT 3815 HP:0100495 Mastocytosis ORPHANET:98849 KIT 3815 HP:0002488 Acute leukemia ORPHANET:98849 KIT 3815 HP:0001879 Abnormality of eosinophils OMIM:609796 TGM5 9333 HP:0000007 Autosomal recessive inheritance OMIM:609796 TGM5 9333 HP:0008066 Abnormal blistering of the skin OMIM:609796 TGM5 9333 HP:0010783 Erythema OMIM:275900 SPG20 23111 HP:0001156 Brachydactyly syndrome OMIM:275900 SPG20 23111 HP:0001773 Short foot OMIM:275900 SPG20 23111 HP:0001260 Dysarthria OMIM:275900 SPG20 23111 HP:0003487 Babinski sign OMIM:275900 SPG20 23111 HP:0011448 Ankle clonus OMIM:275900 SPG20 23111 HP:0001310 Dysmetria OMIM:275900 SPG20 23111 HP:0003693 Distal amyotrophy OMIM:275900 SPG20 23111 HP:0001270 Motor delay OMIM:275900 SPG20 23111 HP:0000712 Emotional lability OMIM:275900 SPG20 23111 HP:0001761 Pes cavus OMIM:275900 SPG20 23111 HP:0002307 Drooling OMIM:275900 SPG20 23111 HP:0001272 Cerebellar atrophy OMIM:275900 SPG20 23111 HP:0000316 Hypertelorism OMIM:275900 SPG20 23111 HP:0011449 Knee clonus OMIM:275900 SPG20 23111 HP:0011463 Childhood onset OMIM:275900 SPG20 23111 HP:0005639 Hyperextensible hand joints OMIM:275900 SPG20 23111 HP:0002751 Kyphoscoliosis OMIM:275900 SPG20 23111 HP:0012371 Midface prominence OMIM:275900 SPG20 23111 HP:0007340 Lower limb muscle weakness OMIM:275900 SPG20 23111 HP:0006986 Upper limb spasticity OMIM:275900 SPG20 23111 HP:0001347 Hyperreflexia OMIM:275900 SPG20 23111 HP:0012385 Camptodactyly OMIM:275900 SPG20 23111 HP:0002313 Spastic paraparesis OMIM:275900 SPG20 23111 HP:0002355 Difficulty walking OMIM:275900 SPG20 23111 HP:0000007 Autosomal recessive inheritance OMIM:275900 SPG20 23111 HP:0030084 Clinodactyly OMIM:275900 SPG20 23111 HP:0001765 Hammertoe OMIM:275900 SPG20 23111 HP:0001258 Spastic paraplegia OMIM:275900 SPG20 23111 HP:0001263 Global developmental delay OMIM:275900 SPG20 23111 HP:0002064 Spastic gait OMIM:275900 SPG20 23111 HP:0004322 Short stature OMIM:275900 SPG20 23111 HP:0001256 Intellectual disability, mild OMIM:309580 ATRX 546 HP:0000286 Epicanthus OMIM:309580 ATRX 546 HP:0001871 Abnormality of blood and blood-forming tissues OMIM:309580 ATRX 546 HP:0001347 Hyperreflexia OMIM:309580 ATRX 546 HP:0001884 Talipes calcaneovalgus OMIM:309580 ATRX 546 HP:0001238 Slender finger OMIM:309580 ATRX 546 HP:0002162 Low posterior hairline OMIM:309580 ATRX 546 HP:0003812 Phenotypic variability OMIM:309580 ATRX 546 HP:0001763 Pes planus OMIM:309580 ATRX 546 HP:0010804 Tented upper lip vermilion OMIM:309580 ATRX 546 HP:0000369 Low-set ears OMIM:309580 ATRX 546 HP:0002857 Genu valgum OMIM:309580 ATRX 546 HP:0000154 Wide mouth OMIM:309580 ATRX 546 HP:0000358 Posteriorly rotated ears OMIM:309580 ATRX 546 HP:0001156 Brachydactyly syndrome OMIM:309580 ATRX 546 HP:0000219 Thin upper lip vermilion OMIM:309580 ATRX 546 HP:0000135 Hypogonadism OMIM:309580 ATRX 546 HP:0011800 Midface retrusion OMIM:309580 ATRX 546 HP:0010806 U-Shaped upper lip vermilion OMIM:309580 ATRX 546 HP:0000252 Microcephaly OMIM:309580 ATRX 546 HP:0005280 Depressed nasal bridge OMIM:309580 ATRX 546 HP:0000194 Open mouth OMIM:309580 ATRX 546 HP:0000188 Short upper lip OMIM:309580 ATRX 546 HP:0000028 Cryptorchidism OMIM:309580 ATRX 546 HP:0000431 Wide nasal bridge OMIM:309580 ATRX 546 HP:0004322 Short stature OMIM:309580 ATRX 546 HP:0010808 Protruding tongue OMIM:309580 ATRX 546 HP:0006895 Lower limb hypertonia OMIM:309580 ATRX 546 HP:0000089 Renal hypoplasia OMIM:309580 ATRX 546 HP:0010864 Intellectual disability, severe OMIM:309580 ATRX 546 HP:0000463 Anteverted nares OMIM:309580 ATRX 546 HP:0000648 Optic atrophy OMIM:309580 ATRX 546 HP:0000341 Narrow forehead OMIM:309580 ATRX 546 HP:0001419 X-linked recessive inheritance OMIM:309580 ATRX 546 HP:0000046 Scrotal hypoplasia OMIM:309580 ATRX 546 HP:0000076 Vesicoureteral reflux OMIM:309580 ATRX 546 HP:0000158 Macroglossia OMIM:309580 ATRX 546 HP:0000047 Hypospadias OMIM:309580 ATRX 546 HP:0000582 Upslanted palpebral fissure OMIM:309580 ATRX 546 HP:0000470 Short neck OMIM:309580 ATRX 546 HP:0002167 Neurological speech impairment OMIM:309580 ATRX 546 HP:0003272 Abnormality of the hip bone OMIM:309580 ATRX 546 HP:0000280 Coarse facial features OMIM:309580 ATRX 546 HP:0002750 Delayed skeletal maturation OMIM:309580 ATRX 546 HP:0002019 Constipation OMIM:309580 ATRX 546 HP:0000272 Malar flattening OMIM:309580 ATRX 546 HP:0002751 Kyphoscoliosis OMIM:309580 ATRX 546 HP:0008947 Infantile muscular hypotonia OMIM:309580 ATRX 546 HP:0001513 Obesity OMIM:309580 ATRX 546 HP:0000218 High palate OMIM:309580 ATRX 546 HP:0000174 Abnormality of the palate OMIM:309580 ATRX 546 HP:0000268 Dolichocephaly OMIM:309580 ATRX 546 HP:0000054 Micropenis OMIM:309580 ATRX 546 HP:0000577 Exotropia OMIM:309580 ATRX 546 HP:0100490 Camptodactyly of finger OMIM:309580 ATRX 546 HP:0100543 Cognitive impairment OMIM:309580 ATRX 546 HP:0008734 Decreased testicular size OMIM:309580 ATRX 546 HP:0000451 Triangular nasal tip OMIM:309580 ATRX 546 HP:0002020 Gastroesophageal reflux OMIM:309580 ATRX 546 HP:0000508 Ptosis OMIM:309580 ATRX 546 HP:0000347 Micrognathia OMIM:309580 ATRX 546 HP:0000179 Thick lower lip vermilion OMIM:309580 ATRX 546 HP:0001250 Seizures OMIM:309580 ATRX 546 HP:0001566 Widely-spaced maxillary central incisors OMIM:309580 ATRX 546 HP:0000708 Behavioral abnormality OMIM:309580 ATRX 546 HP:0000752 Hyperactivity OMIM:309580 ATRX 546 HP:0008551 Microtia OMIM:309580 ATRX 546 HP:0000407 Sensorineural hearing impairment OMIM:309580 ATRX 546 HP:0002307 Drooling OMIM:309580 ATRX 546 HP:0006887 Intellectual disability, progressive OMIM:309580 ATRX 546 HP:0002013 Vomiting OMIM:309580 ATRX 546 HP:0000749 Paroxysmal bursts of laughter OMIM:309580 ATRX 546 HP:0009466 Radial deviation of finger OMIM:309580 ATRX 546 HP:0000316 Hypertelorism OMIM:309580 ATRX 546 HP:0001762 Talipes equinovarus OMIM:309580 ATRX 546 HP:0001182 Tapered finger OMIM:600142 HTRA1 5654 HP:0001347 Hyperreflexia OMIM:600142 HTRA1 5654 HP:0000007 Autosomal recessive inheritance OMIM:600142 HTRA1 5654 HP:0002063 Rigidity OMIM:600142 HTRA1 5654 HP:0000726 Dementia OMIM:600142 HTRA1 5654 HP:0001596 Alopecia OMIM:600142 HTRA1 5654 HP:0007204 Diffuse white matter abnormalities OMIM:600142 HTRA1 5654 HP:0002448 Progressive encephalopathy OMIM:600142 HTRA1 5654 HP:0001288 Gait disturbance OMIM:600142 HTRA1 5654 HP:0007162 Diffuse demyelination of the cerebral white matter OMIM:600142 HTRA1 5654 HP:0002071 Abnormality of extrapyramidal motor function OMIM:600142 HTRA1 5654 HP:0001251 Ataxia OMIM:600142 HTRA1 5654 HP:0002200 Pseudobulbar signs OMIM:600142 HTRA1 5654 HP:0001257 Spasticity OMIM:600142 HTRA1 5654 HP:0000020 Urinary incontinence OMIM:600142 HTRA1 5654 HP:0003419 Low back pain OMIM:600142 HTRA1 5654 HP:0000639 Nystagmus OMIM:600142 HTRA1 5654 HP:0004931 Arteriosclerosis of small cerebral arteries OMIM:600142 HTRA1 5654 HP:0001260 Dysarthria OMIM:600142 HTRA1 5654 HP:0003487 Babinski sign OMIM:610282 SEMA4A 64218 HP:0001000 Abnormality of skin pigmentation OMIM:610282 SEMA4A 64218 HP:0000662 Night blindness OMIM:610282 SEMA4A 64218 HP:0000618 Blindness OMIM:610282 SEMA4A 64218 HP:0000548 Cone-rod dystrophy OMIM:610282 SEMA4A 64218 HP:0000006 Autosomal dominant inheritance OMIM:610282 SEMA4A 64218 HP:0000510 Retinitis pigmentosa OMIM:610282 SEMA4A 64218 HP:0000007 Autosomal recessive inheritance OMIM:616298 DDX58 23586 HP:0001650 Aortic valve stenosis OMIM:616298 DDX58 23586 HP:0004322 Short stature OMIM:616298 DDX58 23586 HP:0000962 Hyperkeratosis OMIM:616298 DDX58 23586 HP:0000501 Glaucoma OMIM:137215 KRAS 3845 HP:0000204 Cleft upper lip OMIM:137215 KRAS 3845 HP:0000006 Autosomal dominant inheritance OMIM:137215 KRAS 3845 HP:0000175 Cleft palate OMIM:137215 KRAS 3845 HP:0002582 Chronic atrophic gastritis OMIM:137215 KRAS 3845 HP:0012126 Stomach cancer OMIM:137215 CDH1 999 HP:0000204 Cleft upper lip OMIM:137215 CDH1 999 HP:0000006 Autosomal dominant inheritance OMIM:137215 CDH1 999 HP:0000175 Cleft palate OMIM:137215 CDH1 999 HP:0002582 Chronic atrophic gastritis OMIM:137215 CDH1 999 HP:0012126 Stomach cancer OMIM:613673 KLF1 10661 HP:0010972 Anemia of inadequate production OMIM:613673 KLF1 10661 HP:0004322 Short stature OMIM:613673 KLF1 10661 HP:0002240 Hepatomegaly OMIM:613673 KLF1 10661 HP:0001923 Reticulocytosis OMIM:613673 KLF1 10661 HP:0003577 Congenital onset OMIM:613673 KLF1 10661 HP:0012132 Erythroid hyperplasia OMIM:613673 KLF1 10661 HP:0001789 Hydrops fetalis OMIM:613673 KLF1 10661 HP:0000006 Autosomal dominant inheritance OMIM:613673 KLF1 10661 HP:0002904 Hyperbilirubinemia OMIM:613673 KLF1 10661 HP:0001744 Splenomegaly OMIM:613673 KLF1 10661 HP:0001639 Hypertrophic cardiomyopathy OMIM:615897 CTPS1 1503 HP:0008348 Immunoglobulin IgG2 deficiency OMIM:615897 CTPS1 1503 HP:0001888 Lymphopenia OMIM:615897 CTPS1 1503 HP:0030253 Defective T cell proliferation OMIM:615897 CTPS1 1503 HP:0000007 Autosomal recessive inheritance OMIM:615897 CTPS1 1503 HP:0005364 Severe viral infections OMIM:614618 SLC6A5 9152 HP:0003593 Infantile onset OMIM:614618 SLC6A5 9152 HP:0001276 Hypertonia OMIM:614618 SLC6A5 9152 HP:0000006 Autosomal dominant inheritance OMIM:614618 SLC6A5 9152 HP:0003552 Muscle stiffness OMIM:614618 SLC6A5 9152 HP:0002267 Exaggerated startle response OMIM:614618 SLC6A5 9152 HP:0000007 Autosomal recessive inheritance OMIM:614618 SLC6A5 9152 HP:0002104 Apnea OMIM:103285 TP63 8626 HP:0008388 Abnormality of the toenails OMIM:103285 TP63 8626 HP:0002293 Alopecia of scalp OMIM:103285 TP63 8626 HP:0001839 Split foot OMIM:103285 TP63 8626 HP:0000006 Autosomal dominant inheritance OMIM:103285 TP63 8626 HP:0000958 Dry skin OMIM:103285 TP63 8626 HP:0000992 Cutaneous photosensitivity OMIM:103285 TP63 8626 HP:0002557 Hypoplastic nipples OMIM:103285 TP63 8626 HP:0004334 Dermal atrophy OMIM:103285 TP63 8626 HP:0000963 Thin skin OMIM:103285 TP63 8626 HP:0006101 Finger syndactyly OMIM:103285 TP63 8626 HP:0001171 Split hand OMIM:103285 TP63 8626 HP:0007455 Adermatoglyphia OMIM:103285 TP63 8626 HP:0000995 Melanocytic nevus OMIM:103285 TP63 8626 HP:0001480 Freckling OMIM:103285 TP63 8626 HP:0100783 Breast aplasia OMIM:103285 TP63 8626 HP:0002561 Absent nipple OMIM:103285 TP63 8626 HP:0200042 Skin ulcer OMIM:103285 TP63 8626 HP:0000579 Nasolacrimal duct obstruction OMIM:103285 TP63 8626 HP:0003187 Breast hypoplasia OMIM:103285 TP63 8626 HP:0002286 Fair hair OMIM:103285 TP63 8626 HP:0006709 Aplasia/Hypoplasia of the nipples OMIM:103285 TP63 8626 HP:0000509 Conjunctivitis OMIM:103285 TP63 8626 HP:0002209 Sparse scalp hair OMIM:103285 TP63 8626 HP:0200115 Scalp hair loss OMIM:103285 TP63 8626 HP:0000426 Prominent nasal bridge OMIM:103285 TP63 8626 HP:0001770 Toe syndactyly OMIM:103285 TP63 8626 HP:0006610 Wide intermamillary distance OMIM:103285 TP63 8626 HP:0000691 Microdontia OMIM:103285 TP63 8626 HP:0000968 Ectodermal dysplasia OMIM:103285 TP63 8626 HP:0002213 Fine hair OMIM:103285 TP63 8626 HP:0006357 Premature loss of permanent teeth OMIM:103285 TP63 8626 HP:0000668 Hypodontia OMIM:103285 TP63 8626 HP:0001803 Nail pits OMIM:103285 TP63 8626 HP:0006482 Abnormality of dental morphology OMIM:103285 TP63 8626 HP:0000964 Eczema OMIM:103285 TP63 8626 HP:0002215 Sparse axillary hair OMIM:103285 TP63 8626 HP:0000677 Oligodontia OMIM:103285 TP63 8626 HP:0000478 Abnormality of the eye OMIM:103285 TP63 8626 HP:0000202 Oral cleft OMIM:103285 TP63 8626 HP:0001231 Abnormality of the fingernails OMIM:614408 MYF6 4618 HP:0003236 Elevated serum creatine phosphokinase OMIM:614408 MYF6 4618 HP:0003394 Muscle cramps OMIM:614408 MYF6 4618 HP:0100305 Ring fibers OMIM:614408 MYF6 4618 HP:0001324 Muscle weakness OMIM:614408 MYF6 4618 HP:0000006 Autosomal dominant inheritance OMIM:608236 ARHGEF10 9639 HP:0003383 Onion bulb formation OMIM:608236 ARHGEF10 9639 HP:0011096 Peripheral demyelination OMIM:608236 ARHGEF10 9639 HP:0000006 Autosomal dominant inheritance OMIM:608236 ARHGEF10 9639 HP:0003581 Adult onset OMIM:608236 ARHGEF10 9639 HP:0000762 Decreased nerve conduction velocity OMIM:615817 KIAA1033 23325 HP:0001263 Global developmental delay OMIM:615817 KIAA1033 23325 HP:0001257 Spasticity OMIM:615817 KIAA1033 23325 HP:0004322 Short stature OMIM:615817 KIAA1033 23325 HP:0001249 Intellectual disability OMIM:614662 HSD11B1 3290 HP:0000006 Autosomal dominant inheritance OMIM:614662 HSD11B1 3290 HP:0001513 Obesity OMIM:614662 HSD11B1 3290 HP:0000956 Acanthosis nigricans OMIM:614662 HSD11B1 3290 HP:0000855 Insulin resistance OMIM:614662 HSD11B1 3290 HP:0012411 Premature pubarche OMIM:614662 HSD11B1 3290 HP:0005616 Accelerated skeletal maturation OMIM:610532 FAM126A 84668 HP:0001250 Seizures OMIM:610532 FAM126A 84668 HP:0001317 Abnormality of the cerebellum OMIM:610532 FAM126A 84668 HP:0000519 Congenital cataract OMIM:610532 FAM126A 84668 HP:0001260 Dysarthria OMIM:610532 FAM126A 84668 HP:0003431 Decreased motor nerve conduction velocity OMIM:610532 FAM126A 84668 HP:0002650 Scoliosis OMIM:610532 FAM126A 84668 HP:0001270 Motor delay OMIM:610532 FAM126A 84668 HP:0001271 Polyneuropathy OMIM:610532 FAM126A 84668 HP:0007210 Lower limb amyotrophy OMIM:610532 FAM126A 84668 HP:0008936 Muscular hypotonia of the trunk OMIM:610532 FAM126A 84668 HP:0000518 Cataract OMIM:610532 FAM126A 84668 HP:0001347 Hyperreflexia OMIM:610532 FAM126A 84668 HP:0003828 Variable expressivity OMIM:610532 FAM126A 84668 HP:0012762 Cerebral white matter atrophy OMIM:610532 FAM126A 84668 HP:0002415 Leukodystrophy OMIM:610532 FAM126A 84668 HP:0006957 Loss of ability to walk OMIM:610532 FAM126A 84668 HP:0003487 Babinski sign OMIM:610532 FAM126A 84668 HP:0000007 Autosomal recessive inheritance OMIM:610532 FAM126A 84668 HP:0001249 Intellectual disability OMIM:610532 FAM126A 84668 HP:0002080 Intention tremor OMIM:610532 FAM126A 84668 HP:0007340 Lower limb muscle weakness OMIM:610532 FAM126A 84668 HP:0003593 Infantile onset OMIM:610532 FAM126A 84668 HP:0030147 Truncal titubation OMIM:610532 FAM126A 84668 HP:0100543 Cognitive impairment OMIM:615824 UQCC2 84300 HP:0000718 Aggressive behavior OMIM:615824 UQCC2 84300 HP:0000752 Hyperactivity OMIM:615824 UQCC2 84300 HP:0001250 Seizures OMIM:615824 UQCC2 84300 HP:0005280 Depressed nasal bridge OMIM:615824 UQCC2 84300 HP:0000028 Cryptorchidism OMIM:615824 UQCC2 84300 HP:0002049 Proximal renal tubular acidosis OMIM:615824 UQCC2 84300 HP:0000582 Upslanted palpebral fissure OMIM:615824 UQCC2 84300 HP:0001263 Global developmental delay OMIM:615824 UQCC2 84300 HP:0001511 Intrauterine growth retardation OMIM:615824 UQCC2 84300 HP:0001942 Metabolic acidosis OMIM:615824 UQCC2 84300 HP:0000286 Epicanthus OMIM:615824 UQCC2 84300 HP:0002465 Poor speech OMIM:615824 UQCC2 84300 HP:0000664 Synophrys OMIM:615824 UQCC2 84300 HP:0001319 Neonatal hypotonia OMIM:615824 UQCC2 84300 HP:0100259 Postaxial polydactyly OMIM:264080 PGR 5241 HP:0001939 Abnormality of metabolism/homeostasis OMIM:264080 PGR 5241 HP:0008222 Female infertility OMIM:264080 PGR 5241 HP:0000007 Autosomal recessive inheritance OMIM:615120 AGRN 375790 HP:0000774 Narrow chest OMIM:615120 AGRN 375790 HP:0003388 Easy fatigability OMIM:615120 AGRN 375790 HP:0010628 Facial palsy OMIM:615120 AGRN 375790 HP:0000218 High palate OMIM:615120 AGRN 375790 HP:0003828 Variable expressivity OMIM:615120 AGRN 375790 HP:0002093 Respiratory insufficiency OMIM:615120 AGRN 375790 HP:0000508 Ptosis OMIM:615120 AGRN 375790 HP:0000007 Autosomal recessive inheritance OMIM:612900 KANK1 23189 HP:0100021 Cerebral palsy OMIM:612900 KANK1 23189 HP:0001249 Intellectual disability OMIM:612900 KANK1 23189 HP:0002510 Spastic tetraplegia OMIM:612900 KANK1 23189 HP:0002059 Cerebral atrophy OMIM:612900 KANK1 23189 HP:0012275 Autosomal dominant inheritance with maternal imprinting OMIM:612900 KANK1 23189 HP:0002119 Ventriculomegaly OMIM:612900 KANK1 23189 HP:0001252 Muscular hypotonia ORPHANET:233 CHN1 1123 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:233 CHN1 1123 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:233 CHN1 1123 HP:0000347 Micrognathia ORPHANET:233 CHN1 1123 HP:0000486 Strabismus ORPHANET:233 CHN1 1123 HP:0000639 Nystagmus ORPHANET:233 CHN1 1123 HP:0001100 Heterochromia iridis ORPHANET:233 CHN1 1123 HP:0100543 Cognitive impairment ORPHANET:233 CHN1 1123 HP:0000365 Hearing impairment ORPHANET:233 CHN1 1123 HP:0000615 Abnormality of the pupil ORPHANET:233 CHN1 1123 HP:0000431 Wide nasal bridge ORPHANET:233 CHN1 1123 HP:0000567 Chorioretinal coloboma ORPHANET:233 CHN1 1123 HP:0000581 Blepharophimosis ORPHANET:233 CHN1 1123 HP:0000252 Microcephaly ORPHANET:233 CHN1 1123 HP:0000175 Cleft palate ORPHANET:233 CHN1 1123 HP:0000463 Anteverted nares ORPHANET:233 CHN1 1123 HP:0009601 Aplasia/Hypoplasia of the thumb ORPHANET:233 CHN1 1123 HP:0002564 Malformation of the heart and great vessels ORPHANET:233 CHN1 1123 HP:0001883 Talipes ORPHANET:233 CHN1 1123 HP:0000470 Short neck ORPHANET:233 CHN1 1123 HP:0008572 External ear malformation ORPHANET:233 CHN1 1123 HP:0001250 Seizures ORPHANET:233 CHN1 1123 HP:0000505 Visual impairment ORPHANET:233 CHN1 1123 HP:0000490 Deeply set eye ORPHANET:233 CHN1 1123 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:233 CHN1 1123 HP:0001156 Brachydactyly syndrome ORPHANET:233 CHN1 1123 HP:0000508 Ptosis ORPHANET:233 CHN1 1123 HP:0000597 Ophthalmoparesis ORPHANET:233 CHN1 1123 HP:0100542 Abnormal localization of kidney ORPHANET:233 CHN1 1123 HP:0000648 Optic atrophy OMIM:614038 GATA2 2624 HP:0000978 Bruising susceptibility OMIM:614038 GATA2 2624 HP:0100724 Hypercoagulability OMIM:614038 GATA2 2624 HP:0002716 Lymphadenopathy OMIM:614038 GATA2 2624 HP:0002205 Recurrent respiratory infections OMIM:614038 GATA2 2624 HP:0000407 Sensorineural hearing impairment OMIM:614038 GATA2 2624 HP:0002076 Migraine OMIM:614038 GATA2 2624 HP:0100658 Cellulitis OMIM:614038 GATA2 2624 HP:0002321 Vertigo OMIM:614038 GATA2 2624 HP:0000505 Visual impairment OMIM:614038 GATA2 2624 HP:0002093 Respiratory insufficiency OMIM:614038 GATA2 2624 HP:0001874 Abnormality of neutrophils OMIM:614038 GATA2 2624 HP:0005528 Bone marrow hypocellularity OMIM:614038 GATA2 2624 HP:0000980 Pallor OMIM:614038 GATA2 2624 HP:0002488 Acute leukemia OMIM:614038 GATA2 2624 HP:0002863 Myelodysplasia OMIM:614038 GATA2 2624 HP:0001824 Weight loss OMIM:614038 GATA2 2624 HP:0001004 Lymphedema OMIM:614038 GATA2 2624 HP:0000006 Autosomal dominant inheritance OMIM:614038 GATA2 2624 HP:0002240 Hepatomegaly OMIM:614038 GATA2 2624 HP:0001974 Leukocytosis OMIM:614038 GATA2 2624 HP:0001876 Pancytopenia OMIM:614038 GATA2 2624 HP:0001182 Tapered finger OMIM:614038 GATA2 2624 HP:0001873 Thrombocytopenia OMIM:614038 GATA2 2624 HP:0004370 Abnormality of temperature regulation OMIM:614038 GATA2 2624 HP:0001744 Splenomegaly OMIM:614038 GATA2 2624 HP:0000465 Webbed neck OMIM:614038 GATA2 2624 HP:0000648 Optic atrophy OMIM:614038 GATA2 2624 HP:0000601 Hypotelorism OMIM:614038 GATA2 2624 HP:0000388 Otitis media OMIM:614038 GATA2 2624 HP:0000286 Epicanthus OMIM:614038 GATA2 2624 HP:0002167 Neurological speech impairment OMIM:614038 GATA2 2624 HP:0002017 Nausea and vomiting OMIM:614038 GATA2 2624 HP:0002170 Intracranial hemorrhage OMIM:605751 PRRT2 112476 HP:0003829 Incomplete penetrance OMIM:605751 PRRT2 112476 HP:0002197 Generalized seizures OMIM:605751 PRRT2 112476 HP:0002076 Migraine OMIM:605751 PRRT2 112476 HP:0007359 Focal seizures OMIM:605751 PRRT2 112476 HP:0000006 Autosomal dominant inheritance OMIM:613694 PSEN1 5663 HP:0001279 Syncope OMIM:613694 PSEN1 5663 HP:0001644 Dilated cardiomyopathy OMIM:613694 PSEN1 5663 HP:0000006 Autosomal dominant inheritance OMIM:613694 PSEN1 5663 HP:0001635 Congestive heart failure OMIM:615092 MIB1 57534 HP:0000006 Autosomal dominant inheritance OMIM:609452 LDB3 11155 HP:0001271 Polyneuropathy OMIM:609452 LDB3 11155 HP:0002600 Hyporeflexia of lower limbs OMIM:609452 LDB3 11155 HP:0009073 Progressive proximal muscle weakness OMIM:609452 LDB3 11155 HP:0003555 Muscle fiber splitting OMIM:609452 LDB3 11155 HP:0003458 EMG: myopathic abnormalities OMIM:609452 LDB3 11155 HP:0009063 Progressive distal muscle weakness OMIM:609452 LDB3 11155 HP:0001638 Cardiomyopathy OMIM:609452 LDB3 11155 HP:0003715 Myofibrillar myopathy OMIM:609452 LDB3 11155 HP:0003584 Late onset OMIM:609452 LDB3 11155 HP:0003236 Elevated serum creatine phosphokinase OMIM:609452 LDB3 11155 HP:0003736 Autophagic vacuoles OMIM:609452 LDB3 11155 HP:0003445 EMG: neuropathic changes OMIM:609452 LDB3 11155 HP:0000006 Autosomal dominant inheritance OMIM:601088 MAF 4094 HP:0012385 Camptodactyly OMIM:601088 MAF 4094 HP:0000343 Long philtrum OMIM:601088 MAF 4094 HP:0008551 Microtia OMIM:601088 MAF 4094 HP:0000219 Thin upper lip vermilion OMIM:601088 MAF 4094 HP:0012368 Flat face OMIM:601088 MAF 4094 HP:0001249 Intellectual disability OMIM:601088 MAF 4094 HP:0004322 Short stature OMIM:601088 MAF 4094 HP:0000358 Posteriorly rotated ears OMIM:601088 MAF 4094 HP:0000348 High forehead OMIM:601088 MAF 4094 HP:0000160 Narrow mouth OMIM:601088 MAF 4094 HP:0011800 Midface retrusion OMIM:601088 MAF 4094 HP:0004484 Craniofacial asymmetry OMIM:601088 MAF 4094 HP:0000431 Wide nasal bridge OMIM:601088 MAF 4094 HP:0000519 Congenital cataract OMIM:601088 MAF 4094 HP:0011229 Broad eyebrow OMIM:601088 MAF 4094 HP:0001701 Pericarditis OMIM:601088 MAF 4094 HP:0000407 Sensorineural hearing impairment OMIM:601088 MAF 4094 HP:0000164 Abnormality of the teeth OMIM:601088 MAF 4094 HP:0003196 Short nose OMIM:601088 MAF 4094 HP:0002209 Sparse scalp hair OMIM:601088 MAF 4094 HP:0000248 Brachycephaly OMIM:601088 MAF 4094 HP:0000508 Ptosis OMIM:601088 MAF 4094 HP:0000316 Hypertelorism OMIM:601088 MAF 4094 HP:0002059 Cerebral atrophy OMIM:601088 MAF 4094 HP:0001156 Brachydactyly syndrome OMIM:601088 MAF 4094 HP:0000289 Broad philtrum OMIM:601088 MAF 4094 HP:0001250 Seizures OMIM:601088 MAF 4094 HP:0000272 Malar flattening OMIM:601088 MAF 4094 HP:0000270 Delayed cranial suture closure OMIM:601088 MAF 4094 HP:0000494 Downslanted palpebral fissures OMIM:601088 MAF 4094 HP:0000319 Smooth philtrum OMIM:601088 MAF 4094 HP:0001182 Tapered finger OMIM:601088 MAF 4094 HP:0002974 Radioulnar synostosis OMIM:601088 MAF 4094 HP:0008404 Nail dystrophy OMIM:601088 MAF 4094 HP:0000369 Low-set ears OMIM:601088 MAF 4094 HP:0000582 Upslanted palpebral fissure OMIM:601088 MAF 4094 HP:0007099 Arnold-Chiari type I malformation OMIM:601088 MAF 4094 HP:0000303 Mandibular prognathia OMIM:601088 MAF 4094 HP:0005280 Depressed nasal bridge OMIM:182290 RAI1 10743 HP:0000006 Autosomal dominant inheritance OMIM:182290 RAI1 10743 HP:0000826 Precocious puberty OMIM:182290 RAI1 10743 HP:0001250 Seizures OMIM:182290 RAI1 10743 HP:0001600 Abnormality of the larynx OMIM:182290 RAI1 10743 HP:0000405 Conductive hearing impairment OMIM:182290 RAI1 10743 HP:0000482 Microcornea OMIM:182290 RAI1 10743 HP:0001249 Intellectual disability OMIM:182290 RAI1 10743 HP:0003745 Sporadic OMIM:182290 RAI1 10743 HP:0002155 Hypertriglyceridemia OMIM:182290 RAI1 10743 HP:0001169 Broad palm OMIM:182290 RAI1 10743 HP:0000541 Retinal detachment OMIM:182290 RAI1 10743 HP:0001763 Pes planus OMIM:182290 RAI1 10743 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:182290 RAI1 10743 HP:0001376 Limitation of joint mobility OMIM:182290 RAI1 10743 HP:0009804 Reduced number of teeth OMIM:182290 RAI1 10743 HP:0000303 Mandibular prognathia OMIM:182290 RAI1 10743 HP:0000337 Broad forehead OMIM:182290 RAI1 10743 HP:0001265 Hyporeflexia OMIM:182290 RAI1 10743 HP:0000733 Stereotypic behavior OMIM:182290 RAI1 10743 HP:0000486 Strabismus OMIM:182290 RAI1 10743 HP:0000742 Self-mutilation OMIM:182290 RAI1 10743 HP:0000750 Delayed speech and language development OMIM:182290 RAI1 10743 HP:0002973 Abnormality of the forearm OMIM:182290 RAI1 10743 HP:0001284 Areflexia OMIM:182290 RAI1 10743 HP:0003196 Short nose OMIM:182290 RAI1 10743 HP:0000388 Otitis media OMIM:182290 RAI1 10743 HP:0000272 Malar flattening OMIM:182290 RAI1 10743 HP:0000347 Micrognathia OMIM:182290 RAI1 10743 HP:0000157 Abnormality of the tongue OMIM:182290 RAI1 10743 HP:0010780 Hyperacusis OMIM:182290 RAI1 10743 HP:0002360 Sleep disturbance OMIM:182290 RAI1 10743 HP:0001161 Hand polydactyly OMIM:182290 RAI1 10743 HP:0010803 Everted upper lip vermilion OMIM:182290 RAI1 10743 HP:0007328 Impaired pain sensation OMIM:182290 RAI1 10743 HP:0001557 Prenatal movement abnormality OMIM:182290 RAI1 10743 HP:0002715 Abnormality of the immune system OMIM:182290 RAI1 10743 HP:0001770 Toe syndactyly OMIM:182290 RAI1 10743 HP:0001156 Brachydactyly syndrome OMIM:182290 RAI1 10743 HP:0000664 Synophrys OMIM:182290 RAI1 10743 HP:0100543 Cognitive impairment OMIM:182290 RAI1 10743 HP:0000069 Abnormality of the ureter OMIM:182290 RAI1 10743 HP:0000316 Hypertelorism OMIM:182290 RAI1 10743 HP:0002353 EEG abnormality OMIM:182290 RAI1 10743 HP:0000582 Upslanted palpebral fissure OMIM:182290 RAI1 10743 HP:0002650 Scoliosis OMIM:182290 RAI1 10743 HP:0002019 Constipation OMIM:182290 RAI1 10743 HP:0002007 Frontal bossing OMIM:182290 RAI1 10743 HP:0100542 Abnormal localization of kidney OMIM:182290 RAI1 10743 HP:0000220 Velopharyngeal insufficiency OMIM:182290 RAI1 10743 HP:0002564 Malformation of the heart and great vessels OMIM:182290 RAI1 10743 HP:0001609 Hoarse voice OMIM:182290 RAI1 10743 HP:0004279 Short palm OMIM:182290 RAI1 10743 HP:0000490 Deeply set eye OMIM:182290 RAI1 10743 HP:0002119 Ventriculomegaly OMIM:182290 RAI1 10743 HP:0001288 Gait disturbance OMIM:182290 RAI1 10743 HP:0012168 Head-banging OMIM:182290 RAI1 10743 HP:0000545 Myopia OMIM:182290 RAI1 10743 HP:0011800 Midface retrusion OMIM:182290 RAI1 10743 HP:0008678 Renal hypoplasia/aplasia OMIM:182290 RAI1 10743 HP:0000283 Broad face OMIM:182290 RAI1 10743 HP:0007018 Attention deficit hyperactivity disorder OMIM:182290 RAI1 10743 HP:0003124 Hypercholesterolemia OMIM:182290 RAI1 10743 HP:0000356 Abnormality of the outer ear OMIM:182290 RAI1 10743 HP:0000175 Cleft palate OMIM:182290 RAI1 10743 HP:0000194 Open mouth OMIM:182290 RAI1 10743 HP:0003312 Abnormal form of the vertebral bodies OMIM:182290 RAI1 10743 HP:0000431 Wide nasal bridge OMIM:182290 RAI1 10743 HP:0010804 Tented upper lip vermilion OMIM:182290 RAI1 10743 HP:0001290 Generalized hypotonia OMIM:182290 RAI1 10743 HP:0000679 Taurodontia OMIM:182290 RAI1 10743 HP:0001263 Global developmental delay OMIM:182290 RAI1 10743 HP:0004322 Short stature OMIM:182290 RAI1 10743 HP:0000204 Cleft upper lip OMIM:182290 RAI1 10743 HP:0012210 Abnormal renal morphology OMIM:182290 RAI1 10743 HP:0002167 Neurological speech impairment OMIM:182290 RAI1 10743 HP:0001513 Obesity OMIM:182290 RAI1 10743 HP:0008609 Morphological abnormality of the middle ear OMIM:182290 RAI1 10743 HP:0004209 Clinodactyly of the 5th finger OMIM:182290 RAI1 10743 HP:0000252 Microcephaly OMIM:182290 RAI1 10743 HP:0000821 Hypothyroidism OMIM:182290 RAI1 10743 HP:0005280 Depressed nasal bridge OMIM:182290 RAI1 10743 HP:0000078 Abnormality of the genital system OMIM:182290 RAI1 10743 HP:0000322 Short philtrum OMIM:182290 RAI1 10743 HP:0000248 Brachycephaly OMIM:182290 RAI1 10743 HP:0005607 Abnormality of the tracheobronchial system OMIM:182290 RAI1 10743 HP:0000463 Anteverted nares OMIM:201750 POR 5447 HP:0000046 Scrotal hypoplasia OMIM:201750 POR 5447 HP:0000248 Brachycephaly OMIM:201750 POR 5447 HP:0000048 Bifid scrotum OMIM:201750 POR 5447 HP:0000062 Ambiguous genitalia OMIM:201750 POR 5447 HP:0002937 Hemivertebrae OMIM:201750 POR 5447 HP:0001601 Laryngomalacia OMIM:201750 POR 5447 HP:0002007 Frontal bossing OMIM:201750 POR 5447 HP:0000054 Micropenis OMIM:201750 POR 5447 HP:0003041 Humeroradial synostosis OMIM:201750 POR 5447 HP:0009473 Joint contracture of the hand OMIM:201750 POR 5447 HP:0001438 Abnormality of the abdomen OMIM:201750 POR 5447 HP:0000066 Labial hypoplasia OMIM:201750 POR 5447 HP:0000377 Abnormality of the pinna OMIM:201750 POR 5447 HP:0002308 Arnold-Chiari malformation OMIM:201750 POR 5447 HP:0000316 Hypertelorism OMIM:201750 POR 5447 HP:0000085 Horseshoe kidney OMIM:201750 POR 5447 HP:0012385 Camptodactyly OMIM:201750 POR 5447 HP:0001562 Oligohydramnios OMIM:201750 POR 5447 HP:0000147 Polycystic ovaries OMIM:201750 POR 5447 HP:0000405 Conductive hearing impairment OMIM:201750 POR 5447 HP:0002650 Scoliosis OMIM:201750 POR 5447 HP:0002980 Femoral bowing OMIM:201750 POR 5447 HP:0000272 Malar flattening OMIM:201750 POR 5447 HP:0008073 Low maternal serum estriol OMIM:201750 POR 5447 HP:0011800 Midface retrusion OMIM:201750 POR 5447 HP:0008368 Tarsal synostosis OMIM:201750 POR 5447 HP:0000453 Choanal atresia OMIM:201750 POR 5447 HP:0000041 Chordee OMIM:201750 POR 5447 HP:0001363 Craniosynostosis OMIM:201750 POR 5447 HP:0005280 Depressed nasal bridge OMIM:201750 POR 5447 HP:0000007 Autosomal recessive inheritance OMIM:201750 POR 5447 HP:0000057 Clitoromegaly OMIM:201750 POR 5447 HP:0003031 Ulnar bowing OMIM:201750 POR 5447 HP:0001586 Vesicovaginal fistula OMIM:201750 POR 5447 HP:0000028 Cryptorchidism OMIM:201750 POR 5447 HP:0001194 Abnormalities of placenta or umbilical cord OMIM:201750 POR 5447 HP:0008072 Maternal virilization in pregnancy OMIM:201750 POR 5447 HP:0000047 Hypospadias OMIM:201750 POR 5447 HP:0001939 Abnormality of metabolism/homeostasis OMIM:201750 POR 5447 HP:0002676 Cloverleaf skull OMIM:201750 POR 5447 HP:0000452 Choanal stenosis OMIM:201750 POR 5447 HP:0001518 Small for gestational age OMIM:201750 POR 5447 HP:0001166 Arachnodactyly OMIM:201750 POR 5447 HP:0000818 Abnormality of the endocrine system OMIM:201750 POR 5447 HP:0002974 Radioulnar synostosis OMIM:201750 POR 5447 HP:0002780 Bronchomalacia OMIM:201750 POR 5447 HP:0000252 Microcephaly OMIM:201750 POR 5447 HP:0000520 Proptosis OMIM:201750 POR 5447 HP:0001838 Rocker bottom foot OMIM:201750 POR 5447 HP:0009702 Carpal synostosis OMIM:300500 GPR143 4935 HP:0007680 Depigmented fundus OMIM:300500 GPR143 4935 HP:0000545 Myopia OMIM:300500 GPR143 4935 HP:0000505 Visual impairment OMIM:300500 GPR143 4935 HP:0000613 Photophobia OMIM:300500 GPR143 4935 HP:0001103 Abnormality of the macula OMIM:300500 GPR143 4935 HP:0000483 Astigmatism OMIM:300500 GPR143 4935 HP:0000615 Abnormality of the pupil OMIM:300500 GPR143 4935 HP:0005592 Giant melanosomes in melanocytes OMIM:300500 GPR143 4935 HP:0000486 Strabismus OMIM:300500 GPR143 4935 HP:0001361 Nystagmus-induced head nodding OMIM:300500 GPR143 4935 HP:0001107 Ocular albinism OMIM:300500 GPR143 4935 HP:0008069 Neoplasm of the skin OMIM:300500 GPR143 4935 HP:0001480 Freckling OMIM:300500 GPR143 4935 HP:0001417 X-linked inheritance OMIM:300500 GPR143 4935 HP:0000639 Nystagmus OMIM:613705 SUMO1 7341 HP:0100333 Unilateral cleft lip OMIM:613705 SUMO1 7341 HP:0100334 Unilateral cleft palate OMIM:164400 ATXN1 6310 HP:0002542 Olivopontocerebellar atrophy OMIM:164400 ATXN1 6310 HP:0001151 Impaired horizontal smooth pursuit OMIM:164400 ATXN1 6310 HP:0007078 Decreased amplitude of sensory action potentials OMIM:164400 ATXN1 6310 HP:0000006 Autosomal dominant inheritance OMIM:164400 ATXN1 6310 HP:0003581 Adult onset OMIM:164400 ATXN1 6310 HP:0002073 Progressive cerebellar ataxia OMIM:164400 ATXN1 6310 HP:0002168 Scanning speech OMIM:164400 ATXN1 6310 HP:0003448 Decreased sensory nerve conduction velocity OMIM:164400 ATXN1 6310 HP:0002495 Impaired vibratory sensation OMIM:164400 ATXN1 6310 HP:0001284 Areflexia OMIM:164400 ATXN1 6310 HP:0002503 Spinocerebellar tract degeneration OMIM:164400 ATXN1 6310 HP:0001283 Bulbar palsy OMIM:164400 ATXN1 6310 HP:0001310 Dysmetria OMIM:164400 ATXN1 6310 HP:0000623 Supranuclear ophthalmoplegia OMIM:164400 ATXN1 6310 HP:0003487 Babinski sign OMIM:164400 ATXN1 6310 HP:0002198 Dilated fourth ventricle OMIM:164400 ATXN1 6310 HP:0000543 Optic disc pallor OMIM:164400 ATXN1 6310 HP:0000514 Slow saccadic eye movements OMIM:164400 ATXN1 6310 HP:0100543 Cognitive impairment OMIM:164400 ATXN1 6310 HP:0002839 Urinary bladder sphincter dysfunction OMIM:164400 ATXN1 6310 HP:0002071 Abnormality of extrapyramidal motor function OMIM:164400 ATXN1 6310 HP:0001257 Spasticity OMIM:164400 ATXN1 6310 HP:0007263 Spinocerebellar atrophy OMIM:164400 ATXN1 6310 HP:0003693 Distal amyotrophy OMIM:164400 ATXN1 6310 HP:0001252 Muscular hypotonia OMIM:164400 ATXN1 6310 HP:0002070 Limb ataxia OMIM:164400 ATXN1 6310 HP:0003431 Decreased motor nerve conduction velocity OMIM:164400 ATXN1 6310 HP:0000640 Gaze-evoked nystagmus OMIM:164400 ATXN1 6310 HP:0002015 Dysphagia OMIM:164400 ATXN1 6310 HP:0001347 Hyperreflexia OMIM:164400 ATXN1 6310 HP:0002075 Dysdiadochokinesis OMIM:164400 ATXN1 6310 HP:0001260 Dysarthria OMIM:164400 ATXN1 6310 HP:0002072 Chorea OMIM:164400 ATXN1 6310 HP:0000648 Optic atrophy OMIM:164400 ATXN1 6310 HP:0002078 Truncal ataxia OMIM:164400 ATXN1 6310 HP:0003744 Genetic anticipation with paternal anticipation bias OMIM:164400 ATXN1 6310 HP:0007006 Dorsal column degeneration OMIM:164400 ATXN1 6310 HP:0000641 Dysmetric saccades OMIM:135290 APC 324 HP:0002024 Malabsorption OMIM:135290 APC 324 HP:0100806 Sepsis OMIM:135290 APC 324 HP:0200040 Epidermoid cyst OMIM:135290 APC 324 HP:0100242 Sarcoma OMIM:135290 APC 324 HP:0003326 Myalgia OMIM:135290 APC 324 HP:0007703 Abnormal retinal pigmentation OMIM:135290 APC 324 HP:0100749 Chest pain OMIM:135290 APC 324 HP:0003003 Colon cancer OMIM:135290 APC 324 HP:0010935 Abnormality of the upper urinary tract OMIM:135290 APC 324 HP:0100245 Desmoid tumors OMIM:135290 APC 324 HP:0004298 Abnormality of the abdominal wall OMIM:135290 APC 324 HP:0002239 Gastrointestinal hemorrhage OMIM:135290 APC 324 HP:0002797 Osteolysis OMIM:135290 APC 324 HP:0005214 Intestinal obstruction OMIM:135290 APC 324 HP:0002829 Arthralgia OMIM:135290 APC 324 HP:0001376 Limitation of joint mobility OMIM:135290 APC 324 HP:0000006 Autosomal dominant inheritance OMIM:135290 APC 324 HP:0200008 Intestinal polyposis OMIM:135290 APC 324 HP:0002027 Abdominal pain OMIM:135290 APC 324 HP:0008069 Neoplasm of the skin OMIM:613517 PRSS56 646960 HP:0000482 Microcornea OMIM:613517 PRSS56 646960 HP:0000568 Microphthalmos OMIM:613517 PRSS56 646960 HP:0000007 Autosomal recessive inheritance OMIM:614322 WWOX 51741 HP:0001263 Global developmental delay OMIM:614322 WWOX 51741 HP:0001260 Dysarthria OMIM:614322 WWOX 51741 HP:0001265 Hyporeflexia OMIM:614322 WWOX 51741 HP:0001510 Growth delay OMIM:614322 WWOX 51741 HP:0001249 Intellectual disability OMIM:614322 WWOX 51741 HP:0002066 Gait ataxia OMIM:614322 WWOX 51741 HP:0000546 Retinal degeneration OMIM:614322 WWOX 51741 HP:0000007 Autosomal recessive inheritance OMIM:614322 WWOX 51741 HP:0000648 Optic atrophy OMIM:614322 WWOX 51741 HP:0001250 Seizures OMIM:614322 WWOX 51741 HP:0003487 Babinski sign OMIM:614322 WWOX 51741 HP:0001257 Spasticity OMIM:614322 WWOX 51741 HP:0001272 Cerebellar atrophy OMIM:614322 WWOX 51741 HP:0000640 Gaze-evoked nystagmus OMIM:614322 WWOX 51741 HP:0002070 Limb ataxia OMIM:614322 WWOX 51741 HP:0000252 Microcephaly OMIM:614063 NAT8L 339983 HP:0002078 Truncal ataxia OMIM:614063 NAT8L 339983 HP:0000007 Autosomal recessive inheritance OMIM:614063 NAT8L 339983 HP:0001263 Global developmental delay OMIM:614063 NAT8L 339983 HP:0000252 Microcephaly OMIM:614063 NAT8L 339983 HP:0001250 Seizures OMIM:614172 GATA2 2624 HP:0012312 Monocytopenia OMIM:614172 GATA2 2624 HP:0001915 Aplastic anemia OMIM:614172 GATA2 2624 HP:0004429 Recurrent viral infections OMIM:614172 GATA2 2624 HP:0002721 Immunodeficiency OMIM:614172 GATA2 2624 HP:0001875 Neutropenia OMIM:614172 GATA2 2624 HP:0002841 Recurrent fungal infections OMIM:614172 GATA2 2624 HP:0012176 Abnormality of natural killer cells OMIM:614172 GATA2 2624 HP:0003812 Phenotypic variability OMIM:614172 GATA2 2624 HP:0000006 Autosomal dominant inheritance OMIM:614172 GATA2 2624 HP:0011275 Recurrent mycobacterium avium complex infections OMIM:186740 CD3G 917 HP:0002721 Immunodeficiency OMIM:186740 CD3G 917 HP:0000007 Autosomal recessive inheritance OMIM:115150 BRAF 673 HP:0000286 Epicanthus OMIM:115150 BRAF 673 HP:0000341 Narrow forehead OMIM:115150 BRAF 673 HP:0001093 Optic nerve dysplasia OMIM:115150 BRAF 673 HP:0004482 Relative macrocephaly OMIM:115150 BRAF 673 HP:0000268 Dolichocephaly OMIM:115150 BRAF 673 HP:0000767 Pectus excavatum OMIM:115150 BRAF 673 HP:0000238 Hydrocephalus OMIM:115150 BRAF 673 HP:0001561 Polyhydramnios OMIM:115150 BRAF 673 HP:0000316 Hypertelorism OMIM:115150 BRAF 673 HP:0001003 Multiple lentigines OMIM:115150 BRAF 673 HP:0001249 Intellectual disability OMIM:115150 BRAF 673 HP:0009891 Underdeveloped supraorbital ridges OMIM:115150 BRAF 673 HP:0000561 Absent eyelashes OMIM:115150 BRAF 673 HP:0002020 Gastroesophageal reflux OMIM:115150 BRAF 673 HP:0000938 Osteopenia OMIM:115150 BRAF 673 HP:0000369 Low-set ears OMIM:115150 BRAF 673 HP:0000463 Anteverted nares OMIM:115150 BRAF 673 HP:0000545 Myopia OMIM:115150 BRAF 673 HP:0000689 Dental malocclusion OMIM:115150 BRAF 673 HP:0002750 Delayed skeletal maturation OMIM:115150 BRAF 673 HP:0003196 Short nose OMIM:115150 BRAF 673 HP:0000508 Ptosis OMIM:115150 BRAF 673 HP:0001048 Cavernous hemangioma OMIM:115150 BRAF 673 HP:0001276 Hypertonia OMIM:115150 BRAF 673 HP:0000520 Proptosis OMIM:115150 BRAF 673 HP:0006114 Multiple palmar creases OMIM:115150 BRAF 673 HP:0002212 Curly hair OMIM:115150 BRAF 673 HP:0000194 Open mouth OMIM:115150 BRAF 673 HP:0002217 Slow-growing hair OMIM:115150 BRAF 673 HP:0001631 Defect in the atrial septum OMIM:115150 BRAF 673 HP:0100703 Tongue thrusting OMIM:115150 BRAF 673 HP:0001250 Seizures OMIM:115150 BRAF 673 HP:0000347 Micrognathia OMIM:115150 BRAF 673 HP:0008070 Sparse hair OMIM:115150 BRAF 673 HP:0004322 Short stature OMIM:115150 BRAF 673 HP:0000006 Autosomal dominant inheritance OMIM:115150 BRAF 673 HP:0001252 Muscular hypotonia OMIM:115150 BRAF 673 HP:0000962 Hyperkeratosis OMIM:115150 BRAF 673 HP:0003477 Peripheral axonal neuropathy OMIM:115150 BRAF 673 HP:0008113 Multiple plantar creases OMIM:115150 BRAF 673 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:115150 BRAF 673 HP:0001047 Atopic dermatitis OMIM:115150 BRAF 673 HP:0011220 Prominent forehead OMIM:115150 BRAF 673 HP:0002120 Cerebral cortical atrophy OMIM:115150 BRAF 673 HP:0008064 Ichthyosis OMIM:115150 BRAF 673 HP:0008872 Feeding difficulties in infancy OMIM:115150 BRAF 673 HP:0000280 Coarse facial features OMIM:115150 BRAF 673 HP:0000365 Hearing impairment OMIM:115150 BRAF 673 HP:0010807 Open bite OMIM:115150 BRAF 673 HP:0000529 Progressive visual loss OMIM:115150 BRAF 673 HP:0001622 Premature birth OMIM:115150 BRAF 673 HP:0001744 Splenomegaly OMIM:115150 BRAF 673 HP:0004209 Clinodactyly of the 5th finger OMIM:115150 BRAF 673 HP:0000494 Downslanted palpebral fissures OMIM:115150 BRAF 673 HP:0000218 High palate OMIM:115150 BRAF 673 HP:0001508 Failure to thrive OMIM:115150 BRAF 673 HP:0005280 Depressed nasal bridge OMIM:115150 BRAF 673 HP:0002002 Deep philtrum OMIM:115150 BRAF 673 HP:0009908 Anterior creases of earlobe OMIM:115150 BRAF 673 HP:0000768 Pectus carinatum OMIM:115150 BRAF 673 HP:0002019 Constipation OMIM:115150 BRAF 673 HP:0000358 Posteriorly rotated ears OMIM:115150 BRAF 673 HP:0002013 Vomiting OMIM:115150 BRAF 673 HP:0007333 Hypoplasia of the frontal lobes OMIM:115150 BRAF 673 HP:0002223 Absent eyebrow OMIM:115150 BRAF 673 HP:0003577 Congenital onset OMIM:115150 BRAF 673 HP:0001187 Hyperextensibility of the finger joints OMIM:115150 BRAF 673 HP:0000176 Submucous cleft hard palate OMIM:115150 BRAF 673 HP:0000414 Bulbous nose OMIM:115150 BRAF 673 HP:0000486 Strabismus OMIM:115150 BRAF 673 HP:0000639 Nystagmus OMIM:115150 BRAF 673 HP:0000126 Hydronephrosis OMIM:115150 BRAF 673 HP:0000657 Oculomotor apraxia OMIM:115150 BRAF 673 HP:0001642 Pulmonic stenosis OMIM:115150 BRAF 673 HP:0001639 Hypertrophic cardiomyopathy OMIM:268800 HEXB 3074 HP:0000158 Macroglossia OMIM:268800 HEXB 3074 HP:0001433 Hepatosplenomegaly OMIM:268800 HEXB 3074 HP:0002380 Fasciculations OMIM:268800 HEXB 3074 HP:0000293 Full cheeks OMIM:268800 HEXB 3074 HP:0002574 Episodic abdominal pain OMIM:268800 HEXB 3074 HP:0000256 Macrocephaly OMIM:268800 HEXB 3074 HP:0000280 Coarse facial features OMIM:268800 HEXB 3074 HP:0001324 Muscle weakness OMIM:268800 HEXB 3074 HP:0002808 Kyphosis OMIM:268800 HEXB 3074 HP:0000365 Hearing impairment OMIM:268800 HEXB 3074 HP:0001744 Splenomegaly OMIM:268800 HEXB 3074 HP:0001103 Abnormality of the macula OMIM:268800 HEXB 3074 HP:0006901 Impaired thermal sensitivity OMIM:268800 HEXB 3074 HP:0000975 Hyperhidrosis OMIM:268800 HEXB 3074 HP:0001347 Hyperreflexia OMIM:268800 HEXB 3074 HP:0001260 Dysarthria OMIM:268800 HEXB 3074 HP:0001278 Orthostatic hypotension OMIM:268800 HEXB 3074 HP:0002652 Skeletal dysplasia OMIM:268800 HEXB 3074 HP:0001635 Congestive heart failure OMIM:268800 HEXB 3074 HP:0100022 Abnormality of movement OMIM:268800 HEXB 3074 HP:0002311 Incoordination OMIM:268800 HEXB 3074 HP:0100543 Cognitive impairment OMIM:268800 HEXB 3074 HP:0002240 Hepatomegaly OMIM:268800 HEXB 3074 HP:0001939 Abnormality of metabolism/homeostasis OMIM:268800 HEXB 3074 HP:0000505 Visual impairment OMIM:268800 HEXB 3074 HP:0000966 Hypohidrosis OMIM:268800 HEXB 3074 HP:0000020 Urinary incontinence OMIM:268800 HEXB 3074 HP:0000802 Impotence OMIM:268800 HEXB 3074 HP:0002205 Recurrent respiratory infections OMIM:268800 HEXB 3074 HP:0001250 Seizures OMIM:268800 HEXB 3074 HP:0002028 Chronic diarrhea OMIM:268800 HEXB 3074 HP:0000618 Blindness OMIM:268800 HEXB 3074 HP:0001251 Ataxia OMIM:268800 HEXB 3074 HP:0010729 Cherry red spot of the macula OMIM:268800 HEXB 3074 HP:0003202 Skeletal muscle atrophy OMIM:268800 HEXB 3074 HP:0001640 Cardiomegaly OMIM:268800 HEXB 3074 HP:0007272 Progressive psychomotor deterioration OMIM:268800 HEXB 3074 HP:0004343 Abnormality of glycosphingolipid metabolism OMIM:609165 KRT10 3858 HP:0001217 Clubbing OMIM:609165 KRT10 3858 HP:0000972 Palmoplantar hyperkeratosis OMIM:609165 KRT10 3858 HP:0000006 Autosomal dominant inheritance OMIM:609165 KRT10 3858 HP:0001019 Erythroderma OMIM:609165 KRT10 3858 HP:0000998 Hypertrichosis OMIM:614435 NKX2-5 1482 HP:0001629 Ventricular septal defect OMIM:614435 NKX2-5 1482 HP:0000006 Autosomal dominant inheritance OMIM:614435 NKX2-5 1482 HP:0004383 Hypoplastic left heart OMIM:614435 NKX2-5 1482 HP:0011560 Mitral atresia OMIM:614435 NKX2-5 1482 HP:0010883 Aortic valve atresia OMIM:258501 OPA3 80207 HP:0004374 Hemiplegia/hemiparesis OMIM:258501 OPA3 80207 HP:0000505 Visual impairment OMIM:258501 OPA3 80207 HP:0002311 Incoordination OMIM:258501 OPA3 80207 HP:0100543 Cognitive impairment OMIM:258501 OPA3 80207 HP:0002167 Neurological speech impairment OMIM:258501 OPA3 80207 HP:0003487 Babinski sign OMIM:258501 OPA3 80207 HP:0000007 Autosomal recessive inheritance OMIM:258501 OPA3 80207 HP:0001288 Gait disturbance OMIM:258501 OPA3 80207 HP:0003535 3-Methylglutaconic aciduria OMIM:258501 OPA3 80207 HP:0001260 Dysarthria OMIM:258501 OPA3 80207 HP:0000639 Nystagmus OMIM:258501 OPA3 80207 HP:0001347 Hyperreflexia OMIM:258501 OPA3 80207 HP:0002072 Chorea OMIM:258501 OPA3 80207 HP:0000648 Optic atrophy OMIM:258501 OPA3 80207 HP:0001257 Spasticity OMIM:258501 OPA3 80207 HP:0002071 Abnormality of extrapyramidal motor function OMIM:258501 OPA3 80207 HP:0001251 Ataxia OMIM:614072 HPS3 84343 HP:0000007 Autosomal recessive inheritance OMIM:614072 HPS3 84343 HP:0011883 Abnormal platelet granules OMIM:614072 HPS3 84343 HP:0000639 Nystagmus OMIM:614072 HPS3 84343 HP:0001892 Abnormal bleeding OMIM:614072 HPS3 84343 HP:0000505 Visual impairment OMIM:615368 DNM2 1785 HP:0003577 Congenital onset OMIM:615368 DNM2 1785 HP:0001284 Areflexia OMIM:615368 DNM2 1785 HP:0003236 Elevated serum creatine phosphokinase OMIM:615368 DNM2 1785 HP:0002093 Respiratory insufficiency OMIM:615368 DNM2 1785 HP:0001371 Flexion contracture OMIM:615368 DNM2 1785 HP:0003687 Centrally nucleated skeletal muscle fibers OMIM:615368 DNM2 1785 HP:0001522 Death in infancy OMIM:615368 DNM2 1785 HP:0000883 Thin ribs OMIM:615368 DNM2 1785 HP:0000573 Retinal hemorrhage OMIM:615368 DNM2 1785 HP:0001252 Muscular hypotonia OMIM:615368 DNM2 1785 HP:0001558 Decreased fetal movement OMIM:615368 DNM2 1785 HP:0001561 Polyhydramnios OMIM:615368 DNM2 1785 HP:0000007 Autosomal recessive inheritance OMIM:615368 DNM2 1785 HP:0001518 Small for gestational age OMIM:232600 PYGM 5837 HP:0000083 Renal insufficiency OMIM:232600 PYGM 5837 HP:0003198 Myopathy OMIM:232600 PYGM 5837 HP:0003201 Rhabdomyolysis OMIM:232600 PYGM 5837 HP:0001324 Muscle weakness OMIM:232600 PYGM 5837 HP:0003581 Adult onset OMIM:232600 PYGM 5837 HP:0002913 Myoglobinuria OMIM:232600 PYGM 5837 HP:0000007 Autosomal recessive inheritance OMIM:232600 PYGM 5837 HP:0003710 Exercise-induced muscle cramps OMIM:232600 PYGM 5837 HP:0001626 Abnormality of the cardiovascular system OMIM:232600 PYGM 5837 HP:0003236 Elevated serum creatine phosphokinase OMIM:232600 PYGM 5837 HP:0003738 Exercise-induced myalgia OMIM:610205 NOTCH2 4853 HP:0004969 Peripheral pulmonary artery stenosis OMIM:610205 NOTCH2 4853 HP:0000325 Triangular face OMIM:610205 NOTCH2 4853 HP:0000006 Autosomal dominant inheritance OMIM:610205 NOTCH2 4853 HP:0000083 Renal insufficiency OMIM:610205 NOTCH2 4853 HP:0001947 Renal tubular acidosis OMIM:610205 NOTCH2 4853 HP:0001631 Defect in the atrial septum OMIM:610205 NOTCH2 4853 HP:0001396 Cholestasis OMIM:610205 NOTCH2 4853 HP:0000337 Broad forehead OMIM:609706 COL11A2 1302 HP:0000007 Autosomal recessive inheritance OMIM:609706 COL11A2 1302 HP:0000407 Sensorineural hearing impairment OMIM:615219 MPDZ 8777 HP:0001250 Seizures OMIM:615219 MPDZ 8777 HP:0000256 Macrocephaly OMIM:615219 MPDZ 8777 HP:0003577 Congenital onset OMIM:615219 MPDZ 8777 HP:0000007 Autosomal recessive inheritance OMIM:615219 MPDZ 8777 HP:0009879 Cortical gyral simplification OMIM:615219 MPDZ 8777 HP:0001334 Communicating hydrocephalus OMIM:615219 MPDZ 8777 HP:0001249 Intellectual disability OMIM:604352 ADGRV1 84059 HP:0002373 Febrile seizures OMIM:604352 ADGRV1 84059 HP:0002069 Generalized tonic-clonic seizures OMIM:604352 ADGRV1 84059 HP:0011463 Childhood onset OMIM:604352 ADGRV1 84059 HP:0003593 Infantile onset OMIM:604352 ADGRV1 84059 HP:0010819 Atonic seizures OMIM:604352 ADGRV1 84059 HP:0000006 Autosomal dominant inheritance OMIM:604352 ADGRV1 84059 HP:0010818 Generalized tonic seizures OMIM:613640 SPTLC2 9517 HP:0002936 Distal sensory impairment OMIM:613640 SPTLC2 9517 HP:0200042 Skin ulcer OMIM:613640 SPTLC2 9517 HP:0001218 Autoamputation OMIM:613640 SPTLC2 9517 HP:0000970 Anhidrosis OMIM:613640 SPTLC2 9517 HP:0012534 Dysesthesia OMIM:613640 SPTLC2 9517 HP:0001760 Abnormality of the foot OMIM:613640 SPTLC2 9517 HP:0007141 Sensorimotor neuropathy OMIM:613640 SPTLC2 9517 HP:0002754 Osteomyelitis OMIM:613640 SPTLC2 9517 HP:0002460 Distal muscle weakness OMIM:613640 SPTLC2 9517 HP:0000006 Autosomal dominant inheritance OMIM:615760 QARS 5859 HP:0006855 Cerebellar vermis atrophy OMIM:615760 QARS 5859 HP:0003429 CNS hypomyelination OMIM:615760 QARS 5859 HP:0002079 Hypoplasia of the corpus callosum OMIM:615760 QARS 5859 HP:0000341 Narrow forehead OMIM:615760 QARS 5859 HP:0000369 Low-set ears OMIM:615760 QARS 5859 HP:0001252 Muscular hypotonia OMIM:615760 QARS 5859 HP:0000358 Posteriorly rotated ears OMIM:615760 QARS 5859 HP:0000601 Hypotelorism OMIM:615760 QARS 5859 HP:0000340 Sloping forehead OMIM:615760 QARS 5859 HP:0002059 Cerebral atrophy OMIM:615760 QARS 5859 HP:0001347 Hyperreflexia OMIM:615760 QARS 5859 HP:0002133 Status epilepticus OMIM:615760 QARS 5859 HP:0002119 Ventriculomegaly OMIM:615760 QARS 5859 HP:0001263 Global developmental delay OMIM:615760 QARS 5859 HP:0000286 Epicanthus OMIM:615760 QARS 5859 HP:0000253 Progressive microcephaly OMIM:615760 QARS 5859 HP:0009879 Cortical gyral simplification OMIM:600002 PTH1R 5745 HP:0000007 Autosomal recessive inheritance OMIM:600002 PTH1R 5745 HP:0002652 Skeletal dysplasia OMIM:600002 PTH1R 5745 HP:0002663 Delayed epiphyseal ossification OMIM:114500 EP300 2033 HP:0002891 Uterine leiomyosarcoma OMIM:114500 EP300 2033 HP:0005584 Renal cell carcinoma OMIM:114500 EP300 2033 HP:0006753 Neoplasm of the stomach OMIM:114500 EP300 2033 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:114500 EP300 2033 HP:0006740 Transitional cell carcinoma of the bladder OMIM:114500 AKT1 207 HP:0002891 Uterine leiomyosarcoma OMIM:114500 AKT1 207 HP:0005584 Renal cell carcinoma OMIM:114500 AKT1 207 HP:0006753 Neoplasm of the stomach OMIM:114500 AKT1 207 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:114500 AKT1 207 HP:0006740 Transitional cell carcinoma of the bladder OMIM:114500 BAX 581 HP:0002891 Uterine leiomyosarcoma OMIM:114500 BAX 581 HP:0005584 Renal cell carcinoma OMIM:114500 BAX 581 HP:0006753 Neoplasm of the stomach OMIM:114500 BAX 581 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:114500 BAX 581 HP:0006740 Transitional cell carcinoma of the bladder OMIM:114500 PTPRJ 5795 HP:0002891 Uterine leiomyosarcoma OMIM:114500 PTPRJ 5795 HP:0005584 Renal cell carcinoma OMIM:114500 PTPRJ 5795 HP:0006753 Neoplasm of the stomach OMIM:114500 PTPRJ 5795 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:114500 PTPRJ 5795 HP:0006740 Transitional cell carcinoma of the bladder OMIM:114500 FLCN 201163 HP:0002891 Uterine leiomyosarcoma OMIM:114500 FLCN 201163 HP:0005584 Renal cell carcinoma OMIM:114500 FLCN 201163 HP:0006753 Neoplasm of the stomach OMIM:114500 FLCN 201163 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:114500 FLCN 201163 HP:0006740 Transitional cell carcinoma of the bladder OMIM:114500 MCC 4163 HP:0002891 Uterine leiomyosarcoma OMIM:114500 MCC 4163 HP:0005584 Renal cell carcinoma OMIM:114500 MCC 4163 HP:0006753 Neoplasm of the stomach OMIM:114500 MCC 4163 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:114500 MCC 4163 HP:0006740 Transitional cell carcinoma of the bladder OMIM:114500 PIK3CA 5290 HP:0002891 Uterine leiomyosarcoma OMIM:114500 PIK3CA 5290 HP:0005584 Renal cell carcinoma OMIM:114500 PIK3CA 5290 HP:0006753 Neoplasm of the stomach OMIM:114500 PIK3CA 5290 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:114500 PIK3CA 5290 HP:0006740 Transitional cell carcinoma of the bladder OMIM:114500 FGFR3 2261 HP:0002891 Uterine leiomyosarcoma OMIM:114500 FGFR3 2261 HP:0005584 Renal cell carcinoma OMIM:114500 FGFR3 2261 HP:0006753 Neoplasm of the stomach OMIM:114500 FGFR3 2261 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:114500 FGFR3 2261 HP:0006740 Transitional cell carcinoma of the bladder OMIM:114500 NRAS 4893 HP:0002891 Uterine leiomyosarcoma OMIM:114500 NRAS 4893 HP:0005584 Renal cell carcinoma OMIM:114500 NRAS 4893 HP:0006753 Neoplasm of the stomach OMIM:114500 NRAS 4893 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:114500 NRAS 4893 HP:0006740 Transitional cell carcinoma of the bladder OMIM:114500 CTNNB1 1499 HP:0002891 Uterine leiomyosarcoma OMIM:114500 CTNNB1 1499 HP:0005584 Renal cell carcinoma OMIM:114500 CTNNB1 1499 HP:0006753 Neoplasm of the stomach OMIM:114500 CTNNB1 1499 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:114500 CTNNB1 1499 HP:0006740 Transitional cell carcinoma of the bladder OMIM:114500 PDGFRL 5157 HP:0002891 Uterine leiomyosarcoma OMIM:114500 PDGFRL 5157 HP:0005584 Renal cell carcinoma OMIM:114500 PDGFRL 5157 HP:0006753 Neoplasm of the stomach OMIM:114500 PDGFRL 5157 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:114500 PDGFRL 5157 HP:0006740 Transitional cell carcinoma of the bladder OMIM:114500 APC 324 HP:0002891 Uterine leiomyosarcoma OMIM:114500 APC 324 HP:0005584 Renal cell carcinoma OMIM:114500 APC 324 HP:0006753 Neoplasm of the stomach OMIM:114500 APC 324 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:114500 APC 324 HP:0006740 Transitional cell carcinoma of the bladder OMIM:114500 BUB1B 701 HP:0002891 Uterine leiomyosarcoma OMIM:114500 BUB1B 701 HP:0005584 Renal cell carcinoma OMIM:114500 BUB1B 701 HP:0006753 Neoplasm of the stomach OMIM:114500 BUB1B 701 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:114500 BUB1B 701 HP:0006740 Transitional cell carcinoma of the bladder OMIM:114500 PTPN12 5782 HP:0002891 Uterine leiomyosarcoma OMIM:114500 PTPN12 5782 HP:0005584 Renal cell carcinoma OMIM:114500 PTPN12 5782 HP:0006753 Neoplasm of the stomach OMIM:114500 PTPN12 5782 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:114500 PTPN12 5782 HP:0006740 Transitional cell carcinoma of the bladder OMIM:114500 DCC 1630 HP:0002891 Uterine leiomyosarcoma OMIM:114500 DCC 1630 HP:0005584 Renal cell carcinoma OMIM:114500 DCC 1630 HP:0006753 Neoplasm of the stomach OMIM:114500 DCC 1630 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:114500 DCC 1630 HP:0006740 Transitional cell carcinoma of the bladder OMIM:114500 RAD54B 25788 HP:0002891 Uterine leiomyosarcoma OMIM:114500 RAD54B 25788 HP:0005584 Renal cell carcinoma OMIM:114500 RAD54B 25788 HP:0006753 Neoplasm of the stomach OMIM:114500 RAD54B 25788 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:114500 RAD54B 25788 HP:0006740 Transitional cell carcinoma of the bladder OMIM:114500 MLH3 27030 HP:0002891 Uterine leiomyosarcoma OMIM:114500 MLH3 27030 HP:0005584 Renal cell carcinoma OMIM:114500 MLH3 27030 HP:0006753 Neoplasm of the stomach OMIM:114500 MLH3 27030 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:114500 MLH3 27030 HP:0006740 Transitional cell carcinoma of the bladder OMIM:114500 AXIN2 8313 HP:0002891 Uterine leiomyosarcoma OMIM:114500 AXIN2 8313 HP:0005584 Renal cell carcinoma OMIM:114500 AXIN2 8313 HP:0006753 Neoplasm of the stomach OMIM:114500 AXIN2 8313 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:114500 AXIN2 8313 HP:0006740 Transitional cell carcinoma of the bladder OMIM:114500 TP53 7157 HP:0002891 Uterine leiomyosarcoma OMIM:114500 TP53 7157 HP:0005584 Renal cell carcinoma OMIM:114500 TP53 7157 HP:0006753 Neoplasm of the stomach OMIM:114500 TP53 7157 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:114500 TP53 7157 HP:0006740 Transitional cell carcinoma of the bladder OMIM:272300 SUOX 6821 HP:0011942 Increased urinary sulfite OMIM:272300 SUOX 6821 HP:0000713 Agitation OMIM:272300 SUOX 6821 HP:0001083 Ectopia lentis OMIM:272300 SUOX 6821 HP:0001251 Ataxia OMIM:272300 SUOX 6821 HP:0008947 Infantile muscular hypotonia OMIM:272300 SUOX 6821 HP:0001276 Hypertonia OMIM:272300 SUOX 6821 HP:0001266 Choreoathetosis OMIM:272300 SUOX 6821 HP:0007325 Generalized dystonia OMIM:272300 SUOX 6821 HP:0001522 Death in infancy OMIM:272300 SUOX 6821 HP:0001263 Global developmental delay OMIM:272300 SUOX 6821 HP:0003643 Sulfite oxidase deficiency OMIM:272300 SUOX 6821 HP:0002301 Hemiplegia OMIM:272300 SUOX 6821 HP:0000964 Eczema OMIM:272300 SUOX 6821 HP:0002213 Fine hair OMIM:272300 SUOX 6821 HP:0000684 Delayed eruption of teeth OMIM:272300 SUOX 6821 HP:0003359 Decreased urinary sulfate OMIM:272300 SUOX 6821 HP:0000007 Autosomal recessive inheritance OMIM:272300 SUOX 6821 HP:0001250 Seizures ORPHANET:966 ABCC9 10060 HP:0000280 Coarse facial features ORPHANET:966 ABCC9 10060 HP:0005105 Abnormal nasal morphology ORPHANET:966 ABCC9 10060 HP:0001155 Abnormality of the hand ORPHANET:966 ABCC9 10060 HP:0000998 Hypertrichosis ORPHANET:966 ABCC9 10060 HP:0100540 Palpebral edema ORPHANET:966 ABCC9 10060 HP:0001382 Joint hypermobility ORPHANET:966 ABCC9 10060 HP:0000179 Thick lower lip vermilion ORPHANET:966 ABCC9 10060 HP:0000232 Everted lower lip vermilion ORPHANET:966 ABCC9 10060 HP:0100543 Cognitive impairment ORPHANET:966 ABCC9 10060 HP:0000212 Gingival overgrowth ORPHANET:966 ABCC9 10060 HP:0000221 Furrowed tongue ORPHANET:966 ABCC9 10060 HP:0000581 Blepharophimosis OMIM:249000 MKS1 54903 HP:0000470 Short neck OMIM:249000 MKS1 54903 HP:0006872 Cerebral hypoplasia OMIM:249000 MKS1 54903 HP:0001680 Coarctation of aorta OMIM:249000 MKS1 54903 HP:0001274 Agenesis of corpus callosum OMIM:249000 MKS1 54903 HP:0002089 Pulmonary hypoplasia OMIM:249000 MKS1 54903 HP:0001623 Breech presentation OMIM:249000 MKS1 54903 HP:0002323 Anencephaly OMIM:249000 MKS1 54903 HP:0003241 External genital hypoplasia OMIM:249000 MKS1 54903 HP:0000180 Lobulated tongue OMIM:249000 MKS1 54903 HP:0001408 Bile duct proliferation OMIM:249000 MKS1 54903 HP:0001883 Talipes OMIM:249000 MKS1 54903 HP:0002308 Arnold-Chiari malformation OMIM:249000 MKS1 54903 HP:0001305 Dandy-Walker malformation OMIM:249000 MKS1 54903 HP:0001744 Splenomegaly OMIM:249000 MKS1 54903 HP:0000238 Hydrocephalus OMIM:249000 MKS1 54903 HP:0001195 Single umbilical artery OMIM:249000 MKS1 54903 HP:0000154 Wide mouth OMIM:249000 MKS1 54903 HP:0001321 Cerebellar hypoplasia OMIM:249000 MKS1 54903 HP:0006487 Bowing of the long bones OMIM:249000 MKS1 54903 HP:0002566 Intestinal malrotation OMIM:249000 MKS1 54903 HP:0001159 Syndactyly OMIM:249000 MKS1 54903 HP:0000316 Hypertelorism OMIM:249000 MKS1 54903 HP:0000175 Cleft palate OMIM:249000 MKS1 54903 HP:0030084 Clinodactyly OMIM:249000 MKS1 54903 HP:0000695 Natal tooth OMIM:249000 MKS1 54903 HP:0000069 Abnormality of the ureter OMIM:249000 MKS1 54903 HP:0000369 Low-set ears OMIM:249000 MKS1 54903 HP:0000252 Microcephaly OMIM:249000 MKS1 54903 HP:0000007 Autosomal recessive inheritance OMIM:249000 MKS1 54903 HP:0000130 Abnormality of the uterus OMIM:249000 MKS1 54903 HP:0001600 Abnormality of the larynx OMIM:249000 MKS1 54903 HP:0002085 Occipital encephalocele OMIM:249000 MKS1 54903 HP:0000568 Microphthalmos OMIM:249000 MKS1 54903 HP:0001643 Patent ductus arteriosus OMIM:249000 MKS1 54903 HP:0000612 Iris coloboma OMIM:249000 MKS1 54903 HP:0000061 Ambiguous genitalia, female OMIM:249000 MKS1 54903 HP:0000028 Cryptorchidism OMIM:249000 MKS1 54903 HP:0001162 Postaxial hand polydactyly OMIM:249000 MKS1 54903 HP:0001341 Olfactory lobe agenesis OMIM:249000 MKS1 54903 HP:0001671 Abnormality of the cardiac septa OMIM:249000 MKS1 54903 HP:0002023 Anal atresia OMIM:249000 MKS1 54903 HP:0000033 Ambiguous genitalia, male OMIM:249000 MKS1 54903 HP:0001562 Oligohydramnios OMIM:249000 MKS1 54903 HP:0006267 Large placenta OMIM:249000 MKS1 54903 HP:0000835 Adrenal hypoplasia OMIM:249000 MKS1 54903 HP:0004639 Elevated amniotic fluid alpha-fetoprotein OMIM:249000 MKS1 54903 HP:0005343 Hypoplasia of the bladder OMIM:249000 MKS1 54903 HP:0000465 Webbed neck OMIM:249000 MKS1 54903 HP:0001511 Intrauterine growth retardation OMIM:249000 MKS1 54903 HP:0000340 Sloping forehead OMIM:249000 MKS1 54903 HP:0001747 Accessory spleen OMIM:249000 MKS1 54903 HP:0000104 Renal agenesis OMIM:249000 MKS1 54903 HP:0000204 Cleft upper lip OMIM:249000 MKS1 54903 HP:0001829 Foot polydactyly OMIM:249000 MKS1 54903 HP:0000113 Polycystic kidney dysplasia OMIM:249000 MKS1 54903 HP:0000347 Micrognathia OMIM:249000 MKS1 54903 HP:0001539 Omphalocele OMIM:249000 MKS1 54903 HP:0000601 Hypotelorism OMIM:249000 MKS1 54903 HP:0001746 Asplenia OMIM:249000 MKS1 54903 HP:0009466 Radial deviation of finger OMIM:613193 DNAAF1 123872 HP:0000246 Sinusitis OMIM:613193 DNAAF1 123872 HP:0000403 Recurrent otitis media OMIM:613193 DNAAF1 123872 HP:0002110 Bronchiectasis OMIM:613193 DNAAF1 123872 HP:0002837 Recurrent bronchitis OMIM:613193 DNAAF1 123872 HP:0000789 Infertility OMIM:613193 DNAAF1 123872 HP:0012265 Ciliary dyskinesia OMIM:613193 DNAAF1 123872 HP:0012256 Absent outer dynein arms OMIM:613193 DNAAF1 123872 HP:0001696 Situs inversus totalis OMIM:613193 DNAAF1 123872 HP:0012257 Absent inner dynein arms OMIM:613193 DNAAF1 123872 HP:0000007 Autosomal recessive inheritance OMIM:103470 TYR 7299 HP:0001003 Multiple lentigines OMIM:103470 TYR 7299 HP:0000540 Hypermetropia OMIM:103470 TYR 7299 HP:0000505 Visual impairment OMIM:103470 TYR 7299 HP:0000006 Autosomal dominant inheritance OMIM:103470 TYR 7299 HP:0000613 Photophobia OMIM:103470 TYR 7299 HP:0000639 Nystagmus OMIM:103470 TYR 7299 HP:0000407 Sensorineural hearing impairment OMIM:103470 TYR 7299 HP:0007750 Hypoplasia of the fovea OMIM:103470 TYR 7299 HP:0001417 X-linked inheritance OMIM:103470 TYR 7299 HP:0005592 Giant melanosomes in melanocytes OMIM:103470 TYR 7299 HP:0001010 Hypopigmentation of the skin OMIM:103470 TYR 7299 HP:0001107 Ocular albinism OMIM:103470 TYR 7299 HP:0001756 Vestibular hypofunction OMIM:103470 TYR 7299 HP:0000486 Strabismus OMIM:103470 TYR 7299 HP:0001093 Optic nerve dysplasia OMIM:103470 MITF 4286 HP:0001003 Multiple lentigines OMIM:103470 MITF 4286 HP:0000540 Hypermetropia OMIM:103470 MITF 4286 HP:0000505 Visual impairment OMIM:103470 MITF 4286 HP:0000006 Autosomal dominant inheritance OMIM:103470 MITF 4286 HP:0000613 Photophobia OMIM:103470 MITF 4286 HP:0000639 Nystagmus OMIM:103470 MITF 4286 HP:0000407 Sensorineural hearing impairment OMIM:103470 MITF 4286 HP:0007750 Hypoplasia of the fovea OMIM:103470 MITF 4286 HP:0001417 X-linked inheritance OMIM:103470 MITF 4286 HP:0005592 Giant melanosomes in melanocytes OMIM:103470 MITF 4286 HP:0001010 Hypopigmentation of the skin OMIM:103470 MITF 4286 HP:0001107 Ocular albinism OMIM:103470 MITF 4286 HP:0001756 Vestibular hypofunction OMIM:103470 MITF 4286 HP:0000486 Strabismus OMIM:103470 MITF 4286 HP:0001093 Optic nerve dysplasia ORPHANET:2510 RAB3GAP2 25782 HP:0000505 Visual impairment ORPHANET:2510 RAB3GAP2 25782 HP:0000567 Chorioretinal coloboma ORPHANET:2510 RAB3GAP2 25782 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2510 RAB3GAP2 25782 HP:0002269 Abnormality of neuronal migration ORPHANET:2510 RAB3GAP2 25782 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:2510 RAB3GAP2 25782 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2510 RAB3GAP2 25782 HP:0002650 Scoliosis ORPHANET:2510 RAB3GAP2 25782 HP:0000252 Microcephaly ORPHANET:2510 RAB3GAP2 25782 HP:0004322 Short stature ORPHANET:2510 RAB3GAP2 25782 HP:0100543 Cognitive impairment ORPHANET:2510 RAB3GAP2 25782 HP:0000998 Hypertrichosis ORPHANET:2510 RAB3GAP2 25782 HP:0100542 Abnormal localization of kidney ORPHANET:2510 RAB3GAP2 25782 HP:0000648 Optic atrophy ORPHANET:2510 RAB3GAP2 25782 HP:0001250 Seizures ORPHANET:2510 RAB3GAP2 25782 HP:0001511 Intrauterine growth retardation ORPHANET:2510 RAB3GAP2 25782 HP:0000518 Cataract ORPHANET:2510 RAB3GAP2 25782 HP:0000463 Anteverted nares ORPHANET:2510 RAB3GAP2 25782 HP:0000174 Abnormality of the palate ORPHANET:2510 RAB3GAP2 25782 HP:0003196 Short nose ORPHANET:2510 RAB3GAP2 25782 HP:0002808 Kyphosis ORPHANET:2510 RAB3GAP2 25782 HP:0000431 Wide nasal bridge ORPHANET:2510 RAB3GAP2 25782 HP:0007703 Abnormal retinal pigmentation ORPHANET:2510 RAB3GAP2 25782 HP:0008736 Hypoplasia of penis ORPHANET:2510 RAB3GAP2 25782 HP:0000347 Micrognathia ORPHANET:2510 RAB3GAP2 25782 HP:0000055 Abnormality of female external genitalia ORPHANET:2510 RAB3GAP2 25782 HP:0000028 Cryptorchidism ORPHANET:2510 RAB3GAP2 25782 HP:0000649 Abnormality of vision evoked potentials ORPHANET:2510 RAB3GAP2 25782 HP:0009830 Peripheral neuropathy ORPHANET:2510 RAB3GAP2 25782 HP:0000400 Macrotia ORPHANET:2510 RAB3GAP2 25782 HP:0001376 Limitation of joint mobility ORPHANET:2510 RAB3GAP2 25782 HP:0001252 Muscular hypotonia ORPHANET:2510 RAB3GAP2 25782 HP:0000482 Microcornea ORPHANET:2510 RAB3GAP2 25782 HP:0001276 Hypertonia ORPHANET:2510 RAB3GAP2 25782 HP:0000322 Short philtrum ORPHANET:2510 RAB3GAP2 25782 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:2510 RAB3GAP2 25782 HP:0002120 Cerebral cortical atrophy ORPHANET:2510 TBC1D20 128637 HP:0000505 Visual impairment ORPHANET:2510 TBC1D20 128637 HP:0000567 Chorioretinal coloboma ORPHANET:2510 TBC1D20 128637 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2510 TBC1D20 128637 HP:0002269 Abnormality of neuronal migration ORPHANET:2510 TBC1D20 128637 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:2510 TBC1D20 128637 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2510 TBC1D20 128637 HP:0002650 Scoliosis ORPHANET:2510 TBC1D20 128637 HP:0000252 Microcephaly ORPHANET:2510 TBC1D20 128637 HP:0004322 Short stature ORPHANET:2510 TBC1D20 128637 HP:0100543 Cognitive impairment ORPHANET:2510 TBC1D20 128637 HP:0000998 Hypertrichosis ORPHANET:2510 TBC1D20 128637 HP:0100542 Abnormal localization of kidney ORPHANET:2510 TBC1D20 128637 HP:0000648 Optic atrophy ORPHANET:2510 TBC1D20 128637 HP:0001250 Seizures ORPHANET:2510 TBC1D20 128637 HP:0001511 Intrauterine growth retardation ORPHANET:2510 TBC1D20 128637 HP:0000518 Cataract ORPHANET:2510 TBC1D20 128637 HP:0000463 Anteverted nares ORPHANET:2510 TBC1D20 128637 HP:0000174 Abnormality of the palate ORPHANET:2510 TBC1D20 128637 HP:0003196 Short nose ORPHANET:2510 TBC1D20 128637 HP:0002808 Kyphosis ORPHANET:2510 TBC1D20 128637 HP:0000431 Wide nasal bridge ORPHANET:2510 TBC1D20 128637 HP:0007703 Abnormal retinal pigmentation ORPHANET:2510 TBC1D20 128637 HP:0008736 Hypoplasia of penis ORPHANET:2510 TBC1D20 128637 HP:0000347 Micrognathia ORPHANET:2510 TBC1D20 128637 HP:0000055 Abnormality of female external genitalia ORPHANET:2510 TBC1D20 128637 HP:0000028 Cryptorchidism ORPHANET:2510 TBC1D20 128637 HP:0000649 Abnormality of vision evoked potentials ORPHANET:2510 TBC1D20 128637 HP:0009830 Peripheral neuropathy ORPHANET:2510 TBC1D20 128637 HP:0000400 Macrotia ORPHANET:2510 TBC1D20 128637 HP:0001376 Limitation of joint mobility ORPHANET:2510 TBC1D20 128637 HP:0001252 Muscular hypotonia ORPHANET:2510 TBC1D20 128637 HP:0000482 Microcornea ORPHANET:2510 TBC1D20 128637 HP:0001276 Hypertonia ORPHANET:2510 TBC1D20 128637 HP:0000322 Short philtrum ORPHANET:2510 TBC1D20 128637 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:2510 TBC1D20 128637 HP:0002120 Cerebral cortical atrophy ORPHANET:2510 RAB18 22931 HP:0000505 Visual impairment ORPHANET:2510 RAB18 22931 HP:0000567 Chorioretinal coloboma ORPHANET:2510 RAB18 22931 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2510 RAB18 22931 HP:0002269 Abnormality of neuronal migration ORPHANET:2510 RAB18 22931 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:2510 RAB18 22931 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2510 RAB18 22931 HP:0002650 Scoliosis ORPHANET:2510 RAB18 22931 HP:0000252 Microcephaly ORPHANET:2510 RAB18 22931 HP:0004322 Short stature ORPHANET:2510 RAB18 22931 HP:0100543 Cognitive impairment ORPHANET:2510 RAB18 22931 HP:0000998 Hypertrichosis ORPHANET:2510 RAB18 22931 HP:0100542 Abnormal localization of kidney ORPHANET:2510 RAB18 22931 HP:0000648 Optic atrophy ORPHANET:2510 RAB18 22931 HP:0001250 Seizures ORPHANET:2510 RAB18 22931 HP:0001511 Intrauterine growth retardation ORPHANET:2510 RAB18 22931 HP:0000518 Cataract ORPHANET:2510 RAB18 22931 HP:0000463 Anteverted nares ORPHANET:2510 RAB18 22931 HP:0000174 Abnormality of the palate ORPHANET:2510 RAB18 22931 HP:0003196 Short nose ORPHANET:2510 RAB18 22931 HP:0002808 Kyphosis ORPHANET:2510 RAB18 22931 HP:0000431 Wide nasal bridge ORPHANET:2510 RAB18 22931 HP:0007703 Abnormal retinal pigmentation ORPHANET:2510 RAB18 22931 HP:0008736 Hypoplasia of penis ORPHANET:2510 RAB18 22931 HP:0000347 Micrognathia ORPHANET:2510 RAB18 22931 HP:0000055 Abnormality of female external genitalia ORPHANET:2510 RAB18 22931 HP:0000028 Cryptorchidism ORPHANET:2510 RAB18 22931 HP:0000649 Abnormality of vision evoked potentials ORPHANET:2510 RAB18 22931 HP:0009830 Peripheral neuropathy ORPHANET:2510 RAB18 22931 HP:0000400 Macrotia ORPHANET:2510 RAB18 22931 HP:0001376 Limitation of joint mobility ORPHANET:2510 RAB18 22931 HP:0001252 Muscular hypotonia ORPHANET:2510 RAB18 22931 HP:0000482 Microcornea ORPHANET:2510 RAB18 22931 HP:0001276 Hypertonia ORPHANET:2510 RAB18 22931 HP:0000322 Short philtrum ORPHANET:2510 RAB18 22931 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:2510 RAB18 22931 HP:0002120 Cerebral cortical atrophy ORPHANET:2510 RAB3GAP1 22930 HP:0000505 Visual impairment ORPHANET:2510 RAB3GAP1 22930 HP:0000567 Chorioretinal coloboma ORPHANET:2510 RAB3GAP1 22930 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:2510 RAB3GAP1 22930 HP:0002269 Abnormality of neuronal migration ORPHANET:2510 RAB3GAP1 22930 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:2510 RAB3GAP1 22930 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:2510 RAB3GAP1 22930 HP:0002650 Scoliosis ORPHANET:2510 RAB3GAP1 22930 HP:0000252 Microcephaly ORPHANET:2510 RAB3GAP1 22930 HP:0004322 Short stature ORPHANET:2510 RAB3GAP1 22930 HP:0100543 Cognitive impairment ORPHANET:2510 RAB3GAP1 22930 HP:0000998 Hypertrichosis ORPHANET:2510 RAB3GAP1 22930 HP:0100542 Abnormal localization of kidney ORPHANET:2510 RAB3GAP1 22930 HP:0000648 Optic atrophy ORPHANET:2510 RAB3GAP1 22930 HP:0001250 Seizures ORPHANET:2510 RAB3GAP1 22930 HP:0001511 Intrauterine growth retardation ORPHANET:2510 RAB3GAP1 22930 HP:0000518 Cataract ORPHANET:2510 RAB3GAP1 22930 HP:0000463 Anteverted nares ORPHANET:2510 RAB3GAP1 22930 HP:0000174 Abnormality of the palate ORPHANET:2510 RAB3GAP1 22930 HP:0003196 Short nose ORPHANET:2510 RAB3GAP1 22930 HP:0002808 Kyphosis ORPHANET:2510 RAB3GAP1 22930 HP:0000431 Wide nasal bridge ORPHANET:2510 RAB3GAP1 22930 HP:0007703 Abnormal retinal pigmentation ORPHANET:2510 RAB3GAP1 22930 HP:0008736 Hypoplasia of penis ORPHANET:2510 RAB3GAP1 22930 HP:0000347 Micrognathia ORPHANET:2510 RAB3GAP1 22930 HP:0000055 Abnormality of female external genitalia ORPHANET:2510 RAB3GAP1 22930 HP:0000028 Cryptorchidism ORPHANET:2510 RAB3GAP1 22930 HP:0000649 Abnormality of vision evoked potentials ORPHANET:2510 RAB3GAP1 22930 HP:0009830 Peripheral neuropathy ORPHANET:2510 RAB3GAP1 22930 HP:0000400 Macrotia ORPHANET:2510 RAB3GAP1 22930 HP:0001376 Limitation of joint mobility ORPHANET:2510 RAB3GAP1 22930 HP:0001252 Muscular hypotonia ORPHANET:2510 RAB3GAP1 22930 HP:0000482 Microcornea ORPHANET:2510 RAB3GAP1 22930 HP:0001276 Hypertonia ORPHANET:2510 RAB3GAP1 22930 HP:0000322 Short philtrum ORPHANET:2510 RAB3GAP1 22930 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:2510 RAB3GAP1 22930 HP:0002120 Cerebral cortical atrophy OMIM:605543 SNCA 6622 HP:0000726 Dementia OMIM:605543 SNCA 6622 HP:0011999 Paranoia OMIM:605543 SNCA 6622 HP:0001278 Orthostatic hypotension OMIM:605543 SNCA 6622 HP:0003678 Rapidly progressive OMIM:605543 SNCA 6622 HP:0001300 Parkinsonism OMIM:605543 SNCA 6622 HP:0003596 Middle age onset OMIM:605543 SNCA 6622 HP:0002459 Dysautonomia OMIM:605543 SNCA 6622 HP:0000006 Autosomal dominant inheritance OMIM:605543 SNCA 6622 HP:0100315 Lewy bodies OMIM:605543 SNCA 6622 HP:0001824 Weight loss OMIM:605543 SNCA 6622 HP:0000738 Hallucinations OMIM:614296 WFS1 7466 HP:0000006 Autosomal dominant inheritance OMIM:614296 WFS1 7466 HP:0000819 Diabetes mellitus OMIM:614296 WFS1 7466 HP:0000739 Anxiety OMIM:614296 WFS1 7466 HP:0000501 Glaucoma OMIM:614296 WFS1 7466 HP:0000365 Hearing impairment OMIM:614296 WFS1 7466 HP:0000709 Psychosis OMIM:614296 WFS1 7466 HP:0000717 Autism OMIM:614296 WFS1 7466 HP:0000648 Optic atrophy OMIM:614296 WFS1 7466 HP:0000738 Hallucinations OMIM:614296 WFS1 7466 HP:0100753 Schizophrenia OMIM:614296 WFS1 7466 HP:0000833 Glucose intolerance OMIM:615604 FTL 2512 HP:0000006 Autosomal dominant inheritance OMIM:615604 FTL 2512 HP:0000007 Autosomal recessive inheritance OMIM:609241 NAGA 4668 HP:0003593 Infantile onset OMIM:609241 NAGA 4668 HP:0010864 Intellectual disability, severe OMIM:609241 NAGA 4668 HP:0000717 Autism OMIM:609241 NAGA 4668 HP:0002376 Developmental regression OMIM:609241 NAGA 4668 HP:0002240 Hepatomegaly OMIM:609241 NAGA 4668 HP:0000648 Optic atrophy OMIM:609241 NAGA 4668 HP:0100543 Cognitive impairment OMIM:609241 NAGA 4668 HP:0001276 Hypertonia OMIM:609241 NAGA 4668 HP:0000639 Nystagmus OMIM:609241 NAGA 4668 HP:0100585 Teleangiectasia of the skin OMIM:609241 NAGA 4668 HP:0001250 Seizures OMIM:609241 NAGA 4668 HP:0001639 Hypertrophic cardiomyopathy OMIM:609241 NAGA 4668 HP:0000007 Autosomal recessive inheritance OMIM:609241 NAGA 4668 HP:0001252 Muscular hypotonia OMIM:609241 NAGA 4668 HP:0001347 Hyperreflexia OMIM:609241 NAGA 4668 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:609241 NAGA 4668 HP:0003461 Increased urinary O-linked sialopeptides OMIM:609241 NAGA 4668 HP:0001336 Myoclonus OMIM:609241 NAGA 4668 HP:0000486 Strabismus OMIM:609241 NAGA 4668 HP:0002321 Vertigo OMIM:609241 NAGA 4668 HP:0001263 Global developmental delay OMIM:609241 NAGA 4668 HP:0001004 Lymphedema OMIM:609241 NAGA 4668 HP:0000505 Visual impairment OMIM:609241 NAGA 4668 HP:0004374 Hemiplegia/hemiparesis OMIM:609241 NAGA 4668 HP:0003401 Paresthesia OMIM:609241 NAGA 4668 HP:0003700 Generalized amyotrophy OMIM:609241 NAGA 4668 HP:0000518 Cataract OMIM:609241 NAGA 4668 HP:0001257 Spasticity OMIM:609241 NAGA 4668 HP:0000365 Hearing impairment OMIM:609241 NAGA 4668 HP:0000962 Hyperkeratosis OMIM:609241 NAGA 4668 HP:0007256 Abnormal pyramidal signs OMIM:609241 NAGA 4668 HP:0004305 Involuntary movements OMIM:609241 NAGA 4668 HP:0001324 Muscle weakness OMIM:609241 NAGA 4668 HP:0000938 Osteopenia OMIM:609241 NAGA 4668 HP:0100704 Cortical visual impairment OMIM:607594 ICOS 29851 HP:0004315 IgG deficiency OMIM:607594 ICOS 29851 HP:0000007 Autosomal recessive inheritance OMIM:607594 ICOS 29851 HP:0002110 Bronchiectasis OMIM:607594 ICOS 29851 HP:0002718 Recurrent bacterial infections OMIM:607594 ICOS 29851 HP:0002720 IgA deficiency OMIM:607594 ICOS 29851 HP:0000509 Conjunctivitis OMIM:607594 ICOS 29851 HP:0002716 Lymphadenopathy OMIM:607594 ICOS 29851 HP:0006532 Recurrent pneumonia OMIM:607594 ICOS 29851 HP:0011108 Recurrent sinusitis OMIM:607594 ICOS 29851 HP:0002837 Recurrent bronchitis OMIM:607594 ICOS 29851 HP:0002240 Hepatomegaly OMIM:607594 ICOS 29851 HP:0000403 Recurrent otitis media OMIM:607594 ICOS 29851 HP:0005435 Impaired T cell function OMIM:607594 ICOS 29851 HP:0010976 B lymphocytopenia OMIM:607594 ICOS 29851 HP:0002850 IgM deficiency OMIM:607594 ICOS 29851 HP:0001904 Autoimmune neutropenia OMIM:607594 ICOS 29851 HP:0002721 Immunodeficiency OMIM:607594 ICOS 29851 HP:0001744 Splenomegaly OMIM:607594 ICOS 29851 HP:0002014 Diarrhea OMIM:123790 FGFR2 2263 HP:0000956 Acanthosis nigricans OMIM:123790 FGFR2 2263 HP:0000400 Macrotia OMIM:123790 FGFR2 2263 HP:0000268 Dolichocephaly OMIM:123790 FGFR2 2263 HP:0000463 Anteverted nares OMIM:123790 FGFR2 2263 HP:0000494 Downslanted palpebral fissures OMIM:123790 FGFR2 2263 HP:0000520 Proptosis OMIM:123790 FGFR2 2263 HP:0000364 Hearing abnormality OMIM:123790 FGFR2 2263 HP:0000316 Hypertelorism OMIM:123790 FGFR2 2263 HP:0000822 Hypertension OMIM:123790 FGFR2 2263 HP:0004450 Preauricular skin furrow OMIM:123790 FGFR2 2263 HP:0001545 Anteriorly placed anus OMIM:123790 FGFR2 2263 HP:0001792 Small nail OMIM:123790 FGFR2 2263 HP:0003246 Prominent scrotal raphe OMIM:123790 FGFR2 2263 HP:0000160 Narrow mouth OMIM:123790 FGFR2 2263 HP:0002093 Respiratory insufficiency OMIM:123790 FGFR2 2263 HP:0100761 Visceral angiomatosis OMIM:123790 FGFR2 2263 HP:0009906 Aplasia/Hypoplasia of the earlobes OMIM:123790 FGFR2 2263 HP:0009804 Reduced number of teeth OMIM:123790 FGFR2 2263 HP:0000452 Choanal stenosis OMIM:123790 FGFR2 2263 HP:0001597 Abnormality of the nail OMIM:123790 FGFR2 2263 HP:0000453 Choanal atresia OMIM:123790 FGFR2 2263 HP:0001274 Agenesis of corpus callosum OMIM:123790 FGFR2 2263 HP:0000508 Ptosis OMIM:123790 FGFR2 2263 HP:0000238 Hydrocephalus OMIM:123790 FGFR2 2263 HP:0000995 Melanocytic nevus OMIM:123790 FGFR2 2263 HP:0001732 Abnormality of the pancreas OMIM:123790 FGFR2 2263 HP:0000391 Thickened helices OMIM:123790 FGFR2 2263 HP:0000006 Autosomal dominant inheritance OMIM:123790 FGFR2 2263 HP:0000982 Palmoplantar keratoderma OMIM:123790 FGFR2 2263 HP:0000175 Cleft palate OMIM:123790 FGFR2 2263 HP:0001537 Umbilical hernia OMIM:123790 FGFR2 2263 HP:0000272 Malar flattening OMIM:123790 FGFR2 2263 HP:0011800 Midface retrusion OMIM:123790 FGFR2 2263 HP:0002676 Cloverleaf skull OMIM:123790 FGFR2 2263 HP:0007517 Palmoplantar cutis laxa OMIM:123790 FGFR2 2263 HP:0000028 Cryptorchidism OMIM:123790 FGFR2 2263 HP:0000048 Bifid scrotum OMIM:123790 FGFR2 2263 HP:0001363 Craniosynostosis OMIM:123790 FGFR2 2263 HP:0001377 Limited elbow extension OMIM:123790 FGFR2 2263 HP:0005280 Depressed nasal bridge OMIM:123790 FGFR2 2263 HP:0001263 Global developmental delay OMIM:123790 FGFR2 2263 HP:0010669 Cheekbone underdevelopment OMIM:123790 FGFR2 2263 HP:0000189 Narrow palate OMIM:123790 FGFR2 2263 HP:0000648 Optic atrophy OMIM:123790 FGFR2 2263 HP:0002098 Respiratory distress OMIM:123790 FGFR2 2263 HP:0000368 Low-set, posteriorly rotated ears OMIM:607323 SALL4 57167 HP:0004712 Renal malrotation OMIM:607323 SALL4 57167 HP:0003298 Spina bifida occulta OMIM:607323 SALL4 57167 HP:0000648 Optic atrophy OMIM:607323 SALL4 57167 HP:0008998 Pectoralis hypoplasia OMIM:607323 SALL4 57167 HP:0001883 Talipes OMIM:607323 SALL4 57167 HP:0002025 Anal stenosis OMIM:607323 SALL4 57167 HP:0000076 Vesicoureteral reflux OMIM:607323 SALL4 57167 HP:0000286 Epicanthus OMIM:607323 SALL4 57167 HP:0000324 Facial asymmetry OMIM:607323 SALL4 57167 HP:0001245 Small thenar eminence OMIM:607323 SALL4 57167 HP:0001739 Abnormality of the nasopharynx OMIM:607323 SALL4 57167 HP:0000407 Sensorineural hearing impairment OMIM:607323 SALL4 57167 HP:0000568 Microphthalmos OMIM:607323 SALL4 57167 HP:0002251 Aganglionic megacolon OMIM:607323 SALL4 57167 HP:0001852 Sandal gap OMIM:607323 SALL4 57167 HP:0000085 Horseshoe kidney OMIM:607323 SALL4 57167 HP:0000487 Congenital strabismus OMIM:607323 SALL4 57167 HP:0000480 Retinal coloboma OMIM:607323 SALL4 57167 HP:0004059 Radial club hand OMIM:607323 SALL4 57167 HP:0001629 Ventricular septal defect OMIM:607323 SALL4 57167 HP:0000482 Microcornea OMIM:607323 SALL4 57167 HP:0000505 Visual impairment OMIM:607323 SALL4 57167 HP:0000612 Iris coloboma OMIM:607323 SALL4 57167 HP:0000634 Impaired ocular abduction OMIM:607323 SALL4 57167 HP:0000453 Choanal atresia OMIM:607323 SALL4 57167 HP:0000316 Hypertelorism OMIM:607323 SALL4 57167 HP:0009016 Upper limb muscle hypoplasia OMIM:607323 SALL4 57167 HP:0001636 Tetralogy of Fallot OMIM:607323 SALL4 57167 HP:0000567 Chorioretinal coloboma OMIM:607323 SALL4 57167 HP:0009778 Short thumb OMIM:607323 SALL4 57167 HP:0006101 Finger syndactyly OMIM:607323 SALL4 57167 HP:0009777 Absent thumb OMIM:607323 SALL4 57167 HP:0000661 Palpebral fissure narrowing on adduction OMIM:607323 SALL4 57167 HP:0000581 Blepharophimosis OMIM:607323 SALL4 57167 HP:0001177 Preaxial hand polydactyly OMIM:607323 SALL4 57167 HP:0000089 Renal hypoplasia OMIM:607323 SALL4 57167 HP:0000006 Autosomal dominant inheritance OMIM:607323 SALL4 57167 HP:0001763 Pes planus OMIM:607323 SALL4 57167 HP:0002650 Scoliosis OMIM:607323 SALL4 57167 HP:0000405 Conductive hearing impairment OMIM:607323 SALL4 57167 HP:0010109 Short hallux OMIM:607323 SALL4 57167 HP:0000126 Hydronephrosis OMIM:607323 SALL4 57167 HP:0009921 Duane anomaly OMIM:607323 SALL4 57167 HP:0008588 Slit-like opening of the exterior auditory meatus OMIM:607323 SALL4 57167 HP:0002023 Anal atresia OMIM:607323 SALL4 57167 HP:0002984 Hypoplasia of the radius OMIM:607323 SALL4 57167 HP:0000639 Nystagmus OMIM:607323 SALL4 57167 HP:0001631 Defect in the atrial septum OMIM:607323 SALL4 57167 HP:0100542 Abnormal localization of kidney OMIM:607323 SALL4 57167 HP:0009601 Aplasia/Hypoplasia of the thumb OMIM:607323 SALL4 57167 HP:0003063 Abnormality of the humerus OMIM:607323 SALL4 57167 HP:0003974 Absent radius OMIM:607323 SALL4 57167 HP:0001199 Triphalangeal thumb OMIM:607323 SALL4 57167 HP:0004736 Crossed fused renal ectopia OMIM:607323 SALL4 57167 HP:0008056 Aplasia/Hypoplasia affecting the eye OMIM:607323 SALL4 57167 HP:0000542 Impaired ocular adduction OMIM:607323 SALL4 57167 HP:0003812 Phenotypic variability OMIM:607323 SALL4 57167 HP:0000619 Impaired convergence OMIM:607323 SALL4 57167 HP:0001770 Toe syndactyly OMIM:607323 SALL4 57167 HP:0000518 Cataract OMIM:607323 SALL4 57167 HP:0009486 Radial deviation of the hand OMIM:607323 SALL4 57167 HP:0005792 Short humerus OMIM:607323 SALL4 57167 HP:0002997 Abnormality of the ulna OMIM:607323 SALL4 57167 HP:0003422 Vertebral segmentation defect OMIM:607323 SALL4 57167 HP:0003022 Hypoplasia of the ulna OMIM:607323 SALL4 57167 HP:0000486 Strabismus OMIM:607323 SALL4 57167 HP:0001159 Syndactyly OMIM:607323 SALL4 57167 HP:0000104 Renal agenesis OMIM:607323 SALL4 57167 HP:0010628 Facial palsy OMIM:607323 SALL4 57167 HP:0002949 Fused cervical vertebrae OMIM:607323 SALL4 57167 HP:0000588 Optic nerve coloboma OMIM:607323 SALL4 57167 HP:0001841 Preaxial foot polydactyly OMIM:607323 SALL4 57167 HP:0000452 Choanal stenosis OMIM:607323 SALL4 57167 HP:0100258 Preaxial polydactyly OMIM:607323 SALL4 57167 HP:0007766 Optic disc hypoplasia OMIM:607323 SALL4 57167 HP:0008678 Renal hypoplasia/aplasia OMIM:607323 SALL4 57167 HP:0010048 Aplasia of metacarpal bones OMIM:607323 SALL4 57167 HP:0000508 Ptosis OMIM:614327 BAP1 8314 HP:0002858 Meningioma OMIM:614327 BAP1 8314 HP:0007716 Intraocular melanoma OMIM:614327 BAP1 8314 HP:0000006 Autosomal dominant inheritance OMIM:614327 BAP1 8314 HP:0030078 Lung adenocarcinoma OMIM:614327 BAP1 8314 HP:0012056 Cutaneous melanoma OMIM:267010 NPHP3 27031 HP:0001305 Dandy-Walker malformation OMIM:267010 NPHP3 27031 HP:0001392 Abnormality of the liver OMIM:267010 NPHP3 27031 HP:0000003 Multicystic kidney dysplasia OMIM:267010 NPHP3 27031 HP:0001732 Abnormality of the pancreas OMIM:267010 NPHP3 27031 HP:0002566 Intestinal malrotation OMIM:267010 NPHP3 27031 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:267010 NPHP3 27031 HP:0001561 Polyhydramnios OMIM:267010 NPHP3 27031 HP:0001408 Bile duct proliferation OMIM:267010 NPHP3 27031 HP:0001562 Oligohydramnios OMIM:300952 NDUFB11 54539 HP:0000486 Strabismus OMIM:300952 NDUFB11 54539 HP:0000639 Nystagmus OMIM:300952 NDUFB11 54539 HP:0000564 Lacrimal duct atresia OMIM:300952 NDUFB11 54539 HP:0001644 Dilated cardiomyopathy OMIM:300952 NDUFB11 54539 HP:0008936 Muscular hypotonia of the trunk OMIM:300952 NDUFB11 54539 HP:0001274 Agenesis of corpus callosum OMIM:300952 NDUFB11 54539 HP:0001663 Ventricular fibrillation OMIM:300952 NDUFB11 54539 HP:0001508 Failure to thrive OMIM:300952 NDUFB11 54539 HP:0000545 Myopia OMIM:300952 NDUFB11 54539 HP:0004756 Ventricular tachycardia OMIM:300952 NDUFB11 54539 HP:0001250 Seizures OMIM:300952 NDUFB11 54539 HP:0006956 Dilation of lateral ventricles OMIM:300952 NDUFB11 54539 HP:0001695 Cardiac arrest OMIM:225400 PLOD1 5351 HP:0001288 Gait disturbance OMIM:225400 PLOD1 5351 HP:0001166 Arachnodactyly OMIM:225400 PLOD1 5351 HP:0001558 Decreased fetal movement OMIM:225400 PLOD1 5351 HP:0001939 Abnormality of metabolism/homeostasis OMIM:225400 PLOD1 5351 HP:0001388 Joint laxity OMIM:225400 PLOD1 5351 HP:0001382 Joint hypermobility OMIM:225400 PLOD1 5351 HP:0001252 Muscular hypotonia OMIM:225400 PLOD1 5351 HP:0002647 Aortic dissection OMIM:225400 PLOD1 5351 HP:0000963 Thin skin OMIM:225400 PLOD1 5351 HP:0005280 Depressed nasal bridge OMIM:225400 PLOD1 5351 HP:0000505 Visual impairment OMIM:225400 PLOD1 5351 HP:0000939 Osteoporosis OMIM:225400 PLOD1 5351 HP:0000974 Hyperextensible skin OMIM:225400 PLOD1 5351 HP:0001762 Talipes equinovarus OMIM:225400 PLOD1 5351 HP:0000541 Retinal detachment OMIM:225400 PLOD1 5351 HP:0001519 Disproportionate tall stature OMIM:225400 PLOD1 5351 HP:0000977 Soft skin OMIM:225400 PLOD1 5351 HP:0000618 Blindness OMIM:225400 PLOD1 5351 HP:0001883 Talipes OMIM:225400 PLOD1 5351 HP:0000098 Tall stature OMIM:225400 PLOD1 5351 HP:0000015 Bladder diverticulum OMIM:225400 PLOD1 5351 HP:0001928 Abnormality of coagulation OMIM:225400 PLOD1 5351 HP:0000563 Keratoconus OMIM:225400 PLOD1 5351 HP:0006532 Recurrent pneumonia OMIM:225400 PLOD1 5351 HP:0000592 Blue sclerae OMIM:225400 PLOD1 5351 HP:0000023 Inguinal hernia OMIM:225400 PLOD1 5351 HP:0000501 Glaucoma OMIM:225400 PLOD1 5351 HP:0001933 Subcutaneous hemorrhage OMIM:225400 PLOD1 5351 HP:0004299 Hernia of the abdominal wall OMIM:225400 PLOD1 5351 HP:0000978 Bruising susceptibility OMIM:225400 PLOD1 5351 HP:0002808 Kyphosis OMIM:225400 PLOD1 5351 HP:0100689 Decreased corneal thickness OMIM:225400 PLOD1 5351 HP:0002650 Scoliosis OMIM:225400 PLOD1 5351 HP:0000286 Epicanthus OMIM:225400 PLOD1 5351 HP:0001633 Abnormality of the mitral valve OMIM:225400 PLOD1 5351 HP:0000545 Myopia OMIM:225400 PLOD1 5351 HP:0000482 Microcornea OMIM:225400 PLOD1 5351 HP:0002093 Respiratory insufficiency OMIM:225400 PLOD1 5351 HP:0001763 Pes planus OMIM:225400 PLOD1 5351 HP:0001373 Joint dislocation OMIM:225400 PLOD1 5351 HP:0000007 Autosomal recessive inheritance OMIM:225400 PLOD1 5351 HP:0000987 Atypical scarring of skin OMIM:225400 PLOD1 5351 HP:0001270 Motor delay OMIM:225400 PLOD1 5351 HP:0000678 Dental crowding OMIM:225400 PLOD1 5351 HP:0001788 Premature rupture of membranes OMIM:225400 PLOD1 5351 HP:0003272 Abnormality of the hip bone OMIM:225400 PLOD1 5351 HP:0005294 Arterial dissection OMIM:225400 PLOD1 5351 HP:0001131 Corneal dystrophy OMIM:225400 PLOD1 5351 HP:0000993 Molluscoid pseudotumors OMIM:225400 PLOD1 5351 HP:0008458 Progressive congenital scoliosis OMIM:225400 PLOD1 5351 HP:0000488 Retinopathy OMIM:225400 PLOD1 5351 HP:0002239 Gastrointestinal hemorrhage OMIM:225400 PLOD1 5351 HP:0001635 Congestive heart failure OMIM:225400 PLOD1 5351 HP:0007517 Palmoplantar cutis laxa OMIM:225400 PLOD1 5351 HP:0005952 Decreased pulmonary function OMIM:180000 COL4A1 1282 HP:0000573 Retinal hemorrhage OMIM:180000 COL4A1 1282 HP:0000006 Autosomal dominant inheritance OMIM:180000 COL4A1 1282 HP:0000572 Visual loss OMIM:180000 COL4A1 1282 HP:0001136 Retinal arteriolar tortuosity OMIM:300033 FOXO4 4303 HP:0001417 X-linked inheritance OMIM:300033 FOXO4 4303 HP:0001909 Leukemia OMIM:300033 FOXO4 4303 HP:0001939 Abnormality of metabolism/homeostasis OMIM:277700 WRN 7486 HP:0000869 Secondary amenorrhea OMIM:277700 WRN 7486 HP:0000934 Chondrocalcinosis OMIM:277700 WRN 7486 HP:0008065 Aplasia/Hypoplasia of the skin OMIM:277700 WRN 7486 HP:0004322 Short stature OMIM:277700 WRN 7486 HP:0000518 Cataract OMIM:277700 WRN 7486 HP:0001838 Rocker bottom foot OMIM:277700 WRN 7486 HP:0100615 Ovarian neoplasm OMIM:277700 WRN 7486 HP:0000275 Narrow face OMIM:277700 WRN 7486 HP:0100659 Abnormality of the cerebral vasculature OMIM:277700 WRN 7486 HP:0004279 Short palm OMIM:277700 WRN 7486 HP:0000546 Retinal degeneration OMIM:277700 WRN 7486 HP:0011362 Abnormal hair quantity OMIM:277700 WRN 7486 HP:0000819 Diabetes mellitus OMIM:277700 WRN 7486 HP:0007618 Subcutaneous calcification OMIM:277700 WRN 7486 HP:0100578 Lipoatrophy OMIM:277700 WRN 7486 HP:0005328 Progeroid facial appearance OMIM:277700 WRN 7486 HP:0011001 Increased bone mineral density OMIM:277700 WRN 7486 HP:0001601 Laryngomalacia OMIM:277700 WRN 7486 HP:0000035 Abnormality of the testis OMIM:277700 WRN 7486 HP:0008069 Neoplasm of the skin OMIM:277700 WRN 7486 HP:0100526 Neoplasm of the lung OMIM:277700 WRN 7486 HP:0001677 Coronary artery disease OMIM:277700 WRN 7486 HP:0004414 Abnormality of the pulmonary artery OMIM:277700 WRN 7486 HP:0003202 Skeletal muscle atrophy OMIM:277700 WRN 7486 HP:0100649 Neoplasm of the oral cavity OMIM:277700 WRN 7486 HP:0001635 Congestive heart failure OMIM:277700 WRN 7486 HP:0000765 Abnormality of the thorax OMIM:277700 WRN 7486 HP:0100585 Teleangiectasia of the skin OMIM:277700 WRN 7486 HP:0200042 Skin ulcer OMIM:277700 WRN 7486 HP:0000939 Osteoporosis OMIM:277700 WRN 7486 HP:0000822 Hypertension OMIM:277700 WRN 7486 HP:0002211 White forelock OMIM:277700 WRN 7486 HP:0002858 Meningioma OMIM:277700 WRN 7486 HP:0000144 Decreased fertility OMIM:277700 WRN 7486 HP:0000007 Autosomal recessive inheritance OMIM:277700 WRN 7486 HP:0001595 Abnormality of the hair OMIM:277700 WRN 7486 HP:0010721 Abnormal hair whorl OMIM:277700 WRN 7486 HP:0100679 Lack of skin elasticity OMIM:277700 WRN 7486 HP:0000135 Hypogonadism OMIM:277700 WRN 7486 HP:0005177 Premature arteriosclerosis OMIM:277700 WRN 7486 HP:0000444 Convex nasal ridge OMIM:277700 WRN 7486 HP:0001608 Abnormality of the voice OMIM:277700 WRN 7486 HP:0004349 Reduced bone mineral density OMIM:277700 WRN 7486 HP:0007703 Abnormal retinal pigmentation OMIM:277700 WRN 7486 HP:0000962 Hyperkeratosis OMIM:277700 WRN 7486 HP:0100031 Neoplasm of the thyroid gland OMIM:277700 WRN 7486 HP:0007495 Prematurely aged appearance OMIM:277700 WRN 7486 HP:0100833 Neoplasm of the small intestine OMIM:277700 WRN 7486 HP:0002669 Osteosarcoma OMIM:277700 WRN 7486 HP:0100013 Neoplasm of the breast OMIM:277700 WRN 7486 HP:0003777 Pili torti OMIM:277700 WRN 7486 HP:0001376 Limitation of joint mobility OMIM:277700 WRN 7486 HP:0009726 Renal neoplasm OMIM:615222 RAB33B 83452 HP:0010743 Short metatarsal OMIM:615222 RAB33B 83452 HP:0006009 Broad phalanx OMIM:615222 RAB33B 83452 HP:0000470 Short neck OMIM:615222 RAB33B 83452 HP:0003311 Hypoplasia of the odontoid process OMIM:615222 RAB33B 83452 HP:0008812 Flattened femoral head OMIM:615222 RAB33B 83452 HP:0000768 Pectus carinatum OMIM:615222 RAB33B 83452 HP:0010049 Short metacarpal OMIM:615222 RAB33B 83452 HP:0000007 Autosomal recessive inheritance OMIM:615222 RAB33B 83452 HP:0000926 Platyspondyly OMIM:615222 RAB33B 83452 HP:0001552 Barrel-shaped chest OMIM:615222 RAB33B 83452 HP:0006429 Broad femoral neck OMIM:615222 RAB33B 83452 HP:0002857 Genu valgum OMIM:615222 RAB33B 83452 HP:0004325 Decreased body weight OMIM:615222 RAB33B 83452 HP:0003521 Disproportionate short-trunk short stature OMIM:615222 RAB33B 83452 HP:0001763 Pes planus OMIM:603553 PRF1 5551 HP:0002301 Hemiplegia OMIM:603553 PRF1 5551 HP:0001263 Global developmental delay OMIM:603553 PRF1 5551 HP:0001903 Anemia OMIM:603553 PRF1 5551 HP:0003073 Hypoalbuminemia OMIM:603553 PRF1 5551 HP:0001744 Splenomegaly OMIM:603553 PRF1 5551 HP:0001259 Coma OMIM:603553 PRF1 5551 HP:0003573 Increased total bilirubin OMIM:603553 PRF1 5551 HP:0002240 Hepatomegaly OMIM:603553 PRF1 5551 HP:0000007 Autosomal recessive inheritance OMIM:603553 PRF1 5551 HP:0001250 Seizures OMIM:603553 PRF1 5551 HP:0003281 Increased serum ferritin OMIM:603553 PRF1 5551 HP:0001276 Hypertonia OMIM:603553 PRF1 5551 HP:0008151 Prolonged prothrombin time OMIM:603553 PRF1 5551 HP:0012156 Hemophagocytosis OMIM:603553 PRF1 5551 HP:0007430 Generalized edema OMIM:603553 PRF1 5551 HP:0001252 Muscular hypotonia OMIM:603553 PRF1 5551 HP:0001882 Leukopenia OMIM:603553 PRF1 5551 HP:0002383 Encephalitis OMIM:603553 PRF1 5551 HP:0002902 Hyponatremia OMIM:603553 PRF1 5551 HP:0001251 Ataxia OMIM:603553 PRF1 5551 HP:0002516 Increased intracranial pressure OMIM:603553 PRF1 5551 HP:0003075 Hypoproteinemia OMIM:603553 PRF1 5551 HP:0001873 Thrombocytopenia OMIM:603553 PRF1 5551 HP:0001508 Failure to thrive OMIM:603553 PRF1 5551 HP:0002155 Hypertriglyceridemia OMIM:603553 PRF1 5551 HP:0002716 Lymphadenopathy OMIM:603553 PRF1 5551 HP:0000952 Jaundice OMIM:603553 PRF1 5551 HP:0002445 Tetraplegia OMIM:603553 PRF1 5551 HP:0000737 Irritability OMIM:603553 PRF1 5551 HP:0002922 Increased CSF protein OMIM:603553 PRF1 5551 HP:0012229 CSF pleocytosis OMIM:603553 PRF1 5551 HP:0001287 Meningitis OMIM:603553 PRF1 5551 HP:0011900 Hypofibrinogenemia OMIM:614946 FARS2 10667 HP:0001510 Growth delay OMIM:614946 FARS2 10667 HP:0003355 Aminoaciduria OMIM:614946 FARS2 10667 HP:0001263 Global developmental delay OMIM:614946 FARS2 10667 HP:0000365 Hearing impairment OMIM:614946 FARS2 10667 HP:0001272 Cerebellar atrophy OMIM:614946 FARS2 10667 HP:0001522 Death in infancy OMIM:614946 FARS2 10667 HP:0002171 Gliosis OMIM:614946 FARS2 10667 HP:0000252 Microcephaly OMIM:614946 FARS2 10667 HP:0011968 Feeding difficulties OMIM:614946 FARS2 10667 HP:0002119 Ventriculomegaly OMIM:614946 FARS2 10667 HP:0002059 Cerebral atrophy OMIM:614946 FARS2 10667 HP:0001336 Myoclonus OMIM:614946 FARS2 10667 HP:0001250 Seizures OMIM:614946 FARS2 10667 HP:0002353 EEG abnormality OMIM:614946 FARS2 10667 HP:0000505 Visual impairment OMIM:614946 FARS2 10667 HP:0003128 Lactic acidosis OMIM:614946 FARS2 10667 HP:0001252 Muscular hypotonia OMIM:614946 FARS2 10667 HP:0001903 Anemia OMIM:614946 FARS2 10667 HP:0002151 Increased serum lactate OMIM:614946 FARS2 10667 HP:0000007 Autosomal recessive inheritance OMIM:614946 FARS2 10667 HP:0001873 Thrombocytopenia OMIM:613375 BLK 640 HP:0001513 Obesity OMIM:613375 BLK 640 HP:0000006 Autosomal dominant inheritance OMIM:613375 BLK 640 HP:0004904 Maturity-onset diabetes of the young OMIM:145900 EGR2 1959 HP:0003593 Infantile onset OMIM:145900 EGR2 1959 HP:0002922 Increased CSF protein OMIM:145900 EGR2 1959 HP:0002936 Distal sensory impairment OMIM:145900 EGR2 1959 HP:0001270 Motor delay OMIM:145900 EGR2 1959 HP:0000006 Autosomal dominant inheritance OMIM:145900 EGR2 1959 HP:0003382 Hypertrophic nerve changes OMIM:145900 EGR2 1959 HP:0001765 Hammertoe OMIM:145900 EGR2 1959 HP:0003383 Onion bulb formation OMIM:145900 EGR2 1959 HP:0003693 Distal amyotrophy OMIM:145900 EGR2 1959 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:145900 EGR2 1959 HP:0003481 Segmental peripheral demyelination/remyelination OMIM:145900 EGR2 1959 HP:0001284 Areflexia OMIM:145900 EGR2 1959 HP:0001252 Muscular hypotonia OMIM:145900 EGR2 1959 HP:0000639 Nystagmus OMIM:145900 EGR2 1959 HP:0001761 Pes cavus OMIM:145900 EGR2 1959 HP:0009027 Foot dorsiflexor weakness OMIM:145900 EGR2 1959 HP:0003828 Variable expressivity OMIM:145900 EGR2 1959 HP:0002460 Distal muscle weakness OMIM:145900 EGR2 1959 HP:0001425 Heterogeneous OMIM:145900 EGR2 1959 HP:0000007 Autosomal recessive inheritance OMIM:145900 EGR2 1959 HP:0002751 Kyphoscoliosis OMIM:145900 EGR2 1959 HP:0001265 Hyporeflexia OMIM:145900 EGR2 1959 HP:0003376 Steppage gait OMIM:145900 EGR2 1959 HP:0010871 Sensory ataxia OMIM:145900 EGR2 1959 HP:0001178 Ulnar claw OMIM:145900 EGR2 1959 HP:0003431 Decreased motor nerve conduction velocity OMIM:145900 MPZ 4359 HP:0003593 Infantile onset OMIM:145900 MPZ 4359 HP:0002922 Increased CSF protein OMIM:145900 MPZ 4359 HP:0002936 Distal sensory impairment OMIM:145900 MPZ 4359 HP:0001270 Motor delay OMIM:145900 MPZ 4359 HP:0000006 Autosomal dominant inheritance OMIM:145900 MPZ 4359 HP:0003382 Hypertrophic nerve changes OMIM:145900 MPZ 4359 HP:0001765 Hammertoe OMIM:145900 MPZ 4359 HP:0003383 Onion bulb formation OMIM:145900 MPZ 4359 HP:0003693 Distal amyotrophy OMIM:145900 MPZ 4359 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:145900 MPZ 4359 HP:0003481 Segmental peripheral demyelination/remyelination OMIM:145900 MPZ 4359 HP:0001284 Areflexia OMIM:145900 MPZ 4359 HP:0001252 Muscular hypotonia OMIM:145900 MPZ 4359 HP:0000639 Nystagmus OMIM:145900 MPZ 4359 HP:0001761 Pes cavus OMIM:145900 MPZ 4359 HP:0009027 Foot dorsiflexor weakness OMIM:145900 MPZ 4359 HP:0003828 Variable expressivity OMIM:145900 MPZ 4359 HP:0002460 Distal muscle weakness OMIM:145900 MPZ 4359 HP:0001425 Heterogeneous OMIM:145900 MPZ 4359 HP:0000007 Autosomal recessive inheritance OMIM:145900 MPZ 4359 HP:0002751 Kyphoscoliosis OMIM:145900 MPZ 4359 HP:0001265 Hyporeflexia OMIM:145900 MPZ 4359 HP:0003376 Steppage gait OMIM:145900 MPZ 4359 HP:0010871 Sensory ataxia OMIM:145900 MPZ 4359 HP:0001178 Ulnar claw OMIM:145900 MPZ 4359 HP:0003431 Decreased motor nerve conduction velocity OMIM:145900 PMP22 5376 HP:0003593 Infantile onset OMIM:145900 PMP22 5376 HP:0002922 Increased CSF protein OMIM:145900 PMP22 5376 HP:0002936 Distal sensory impairment OMIM:145900 PMP22 5376 HP:0001270 Motor delay OMIM:145900 PMP22 5376 HP:0000006 Autosomal dominant inheritance OMIM:145900 PMP22 5376 HP:0003382 Hypertrophic nerve changes OMIM:145900 PMP22 5376 HP:0001765 Hammertoe OMIM:145900 PMP22 5376 HP:0003383 Onion bulb formation OMIM:145900 PMP22 5376 HP:0003693 Distal amyotrophy OMIM:145900 PMP22 5376 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:145900 PMP22 5376 HP:0003481 Segmental peripheral demyelination/remyelination OMIM:145900 PMP22 5376 HP:0001284 Areflexia OMIM:145900 PMP22 5376 HP:0001252 Muscular hypotonia OMIM:145900 PMP22 5376 HP:0000639 Nystagmus OMIM:145900 PMP22 5376 HP:0001761 Pes cavus OMIM:145900 PMP22 5376 HP:0009027 Foot dorsiflexor weakness OMIM:145900 PMP22 5376 HP:0003828 Variable expressivity OMIM:145900 PMP22 5376 HP:0002460 Distal muscle weakness OMIM:145900 PMP22 5376 HP:0001425 Heterogeneous OMIM:145900 PMP22 5376 HP:0000007 Autosomal recessive inheritance OMIM:145900 PMP22 5376 HP:0002751 Kyphoscoliosis OMIM:145900 PMP22 5376 HP:0001265 Hyporeflexia OMIM:145900 PMP22 5376 HP:0003376 Steppage gait OMIM:145900 PMP22 5376 HP:0010871 Sensory ataxia OMIM:145900 PMP22 5376 HP:0001178 Ulnar claw OMIM:145900 PMP22 5376 HP:0003431 Decreased motor nerve conduction velocity OMIM:145900 PRX 57716 HP:0003593 Infantile onset OMIM:145900 PRX 57716 HP:0002922 Increased CSF protein OMIM:145900 PRX 57716 HP:0002936 Distal sensory impairment OMIM:145900 PRX 57716 HP:0001270 Motor delay OMIM:145900 PRX 57716 HP:0000006 Autosomal dominant inheritance OMIM:145900 PRX 57716 HP:0003382 Hypertrophic nerve changes OMIM:145900 PRX 57716 HP:0001765 Hammertoe OMIM:145900 PRX 57716 HP:0003383 Onion bulb formation OMIM:145900 PRX 57716 HP:0003693 Distal amyotrophy OMIM:145900 PRX 57716 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:145900 PRX 57716 HP:0003481 Segmental peripheral demyelination/remyelination OMIM:145900 PRX 57716 HP:0001284 Areflexia OMIM:145900 PRX 57716 HP:0001252 Muscular hypotonia OMIM:145900 PRX 57716 HP:0000639 Nystagmus OMIM:145900 PRX 57716 HP:0001761 Pes cavus OMIM:145900 PRX 57716 HP:0009027 Foot dorsiflexor weakness OMIM:145900 PRX 57716 HP:0003828 Variable expressivity OMIM:145900 PRX 57716 HP:0002460 Distal muscle weakness OMIM:145900 PRX 57716 HP:0001425 Heterogeneous OMIM:145900 PRX 57716 HP:0000007 Autosomal recessive inheritance OMIM:145900 PRX 57716 HP:0002751 Kyphoscoliosis OMIM:145900 PRX 57716 HP:0001265 Hyporeflexia OMIM:145900 PRX 57716 HP:0003376 Steppage gait OMIM:145900 PRX 57716 HP:0010871 Sensory ataxia OMIM:145900 PRX 57716 HP:0001178 Ulnar claw OMIM:145900 PRX 57716 HP:0003431 Decreased motor nerve conduction velocity OMIM:300559 PHKA1 5255 HP:0008305 Exercise-induced myoglobinuria OMIM:300559 PHKA1 5255 HP:0003202 Skeletal muscle atrophy OMIM:300559 PHKA1 5255 HP:0001419 X-linked recessive inheritance OMIM:300559 PHKA1 5255 HP:0003738 Exercise-induced myalgia OMIM:300559 PHKA1 5255 HP:0003546 Exercise intolerance OMIM:300559 PHKA1 5255 HP:0008967 Exercise-induced muscle stiffness OMIM:300559 PHKA1 5255 HP:0003236 Elevated serum creatine phosphokinase OMIM:300559 PHKA1 5255 HP:0001324 Muscle weakness ORPHANET:500 PTPN11 5781 HP:0000974 Hyperextensible skin ORPHANET:500 PTPN11 5781 HP:0100627 Displacement of the external urethral meatus ORPHANET:500 PTPN11 5781 HP:0000144 Decreased fertility ORPHANET:500 PTPN11 5781 HP:0100543 Cognitive impairment ORPHANET:500 PTPN11 5781 HP:0001641 Abnormality of the pulmonary valve ORPHANET:500 PTPN11 5781 HP:0000316 Hypertelorism ORPHANET:500 PTPN11 5781 HP:0100542 Abnormal localization of kidney ORPHANET:500 PTPN11 5781 HP:0004414 Abnormality of the pulmonary artery ORPHANET:500 PTPN11 5781 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:500 PTPN11 5781 HP:0001608 Abnormality of the voice ORPHANET:500 PTPN11 5781 HP:0011675 Arrhythmia ORPHANET:500 PTPN11 5781 HP:0000767 Pectus excavatum ORPHANET:500 PTPN11 5781 HP:0000995 Melanocytic nevus ORPHANET:500 PTPN11 5781 HP:0001511 Intrauterine growth retardation ORPHANET:500 PTPN11 5781 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:500 PTPN11 5781 HP:0000912 Sprengel anomaly ORPHANET:500 PTPN11 5781 HP:0000366 Abnormality of the nose ORPHANET:500 PTPN11 5781 HP:0001909 Leukemia ORPHANET:500 PTPN11 5781 HP:0001633 Abnormality of the mitral valve ORPHANET:500 PTPN11 5781 HP:0001674 Complete atrioventricular canal defect ORPHANET:500 PTPN11 5781 HP:0000768 Pectus carinatum ORPHANET:500 PTPN11 5781 HP:0002863 Myelodysplasia ORPHANET:500 PTPN11 5781 HP:0000407 Sensorineural hearing impairment ORPHANET:500 PTPN11 5781 HP:0000028 Cryptorchidism ORPHANET:500 PTPN11 5781 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:500 PTPN11 5781 HP:0003006 Neuroblastoma ORPHANET:500 PTPN11 5781 HP:0001677 Coronary artery disease ORPHANET:500 PTPN11 5781 HP:0002617 Aneurysm ORPHANET:500 PTPN11 5781 HP:0002861 Melanoma ORPHANET:500 PTPN11 5781 HP:0002648 Abnormality of calvarial morphology ORPHANET:500 PTPN11 5781 HP:0001480 Freckling ORPHANET:500 PTPN11 5781 HP:0004306 Abnormality of the endocardium ORPHANET:500 PTPN11 5781 HP:0002650 Scoliosis ORPHANET:500 PTPN11 5781 HP:0000508 Ptosis ORPHANET:500 PTPN11 5781 HP:0003298 Spina bifida occulta ORPHANET:500 PTPN11 5781 HP:0004322 Short stature ORPHANET:500 PTPN11 5781 HP:0000325 Triangular face ORPHANET:500 PTPN11 5781 HP:0000465 Webbed neck ORPHANET:500 RAF1 5894 HP:0000974 Hyperextensible skin ORPHANET:500 RAF1 5894 HP:0100627 Displacement of the external urethral meatus ORPHANET:500 RAF1 5894 HP:0000144 Decreased fertility ORPHANET:500 RAF1 5894 HP:0100543 Cognitive impairment ORPHANET:500 RAF1 5894 HP:0001641 Abnormality of the pulmonary valve ORPHANET:500 RAF1 5894 HP:0000316 Hypertelorism ORPHANET:500 RAF1 5894 HP:0100542 Abnormal localization of kidney ORPHANET:500 RAF1 5894 HP:0004414 Abnormality of the pulmonary artery ORPHANET:500 RAF1 5894 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:500 RAF1 5894 HP:0001608 Abnormality of the voice ORPHANET:500 RAF1 5894 HP:0011675 Arrhythmia ORPHANET:500 RAF1 5894 HP:0000767 Pectus excavatum ORPHANET:500 RAF1 5894 HP:0000995 Melanocytic nevus ORPHANET:500 RAF1 5894 HP:0001511 Intrauterine growth retardation ORPHANET:500 RAF1 5894 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:500 RAF1 5894 HP:0000912 Sprengel anomaly ORPHANET:500 RAF1 5894 HP:0000366 Abnormality of the nose ORPHANET:500 RAF1 5894 HP:0001909 Leukemia ORPHANET:500 RAF1 5894 HP:0001633 Abnormality of the mitral valve ORPHANET:500 RAF1 5894 HP:0001674 Complete atrioventricular canal defect ORPHANET:500 RAF1 5894 HP:0000768 Pectus carinatum ORPHANET:500 RAF1 5894 HP:0002863 Myelodysplasia ORPHANET:500 RAF1 5894 HP:0000407 Sensorineural hearing impairment ORPHANET:500 RAF1 5894 HP:0000028 Cryptorchidism ORPHANET:500 RAF1 5894 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:500 RAF1 5894 HP:0003006 Neuroblastoma ORPHANET:500 RAF1 5894 HP:0001677 Coronary artery disease ORPHANET:500 RAF1 5894 HP:0002617 Aneurysm ORPHANET:500 RAF1 5894 HP:0002861 Melanoma ORPHANET:500 RAF1 5894 HP:0002648 Abnormality of calvarial morphology ORPHANET:500 RAF1 5894 HP:0001480 Freckling ORPHANET:500 RAF1 5894 HP:0004306 Abnormality of the endocardium ORPHANET:500 RAF1 5894 HP:0002650 Scoliosis ORPHANET:500 RAF1 5894 HP:0000508 Ptosis ORPHANET:500 RAF1 5894 HP:0003298 Spina bifida occulta ORPHANET:500 RAF1 5894 HP:0004322 Short stature ORPHANET:500 RAF1 5894 HP:0000325 Triangular face ORPHANET:500 RAF1 5894 HP:0000465 Webbed neck ORPHANET:500 BRAF 673 HP:0000974 Hyperextensible skin ORPHANET:500 BRAF 673 HP:0100627 Displacement of the external urethral meatus ORPHANET:500 BRAF 673 HP:0000144 Decreased fertility ORPHANET:500 BRAF 673 HP:0100543 Cognitive impairment ORPHANET:500 BRAF 673 HP:0001641 Abnormality of the pulmonary valve ORPHANET:500 BRAF 673 HP:0000316 Hypertelorism ORPHANET:500 BRAF 673 HP:0100542 Abnormal localization of kidney ORPHANET:500 BRAF 673 HP:0004414 Abnormality of the pulmonary artery ORPHANET:500 BRAF 673 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:500 BRAF 673 HP:0001608 Abnormality of the voice ORPHANET:500 BRAF 673 HP:0011675 Arrhythmia ORPHANET:500 BRAF 673 HP:0000767 Pectus excavatum ORPHANET:500 BRAF 673 HP:0000995 Melanocytic nevus ORPHANET:500 BRAF 673 HP:0001511 Intrauterine growth retardation ORPHANET:500 BRAF 673 HP:0001639 Hypertrophic cardiomyopathy ORPHANET:500 BRAF 673 HP:0000912 Sprengel anomaly ORPHANET:500 BRAF 673 HP:0000366 Abnormality of the nose ORPHANET:500 BRAF 673 HP:0001909 Leukemia ORPHANET:500 BRAF 673 HP:0001633 Abnormality of the mitral valve ORPHANET:500 BRAF 673 HP:0001674 Complete atrioventricular canal defect ORPHANET:500 BRAF 673 HP:0000768 Pectus carinatum ORPHANET:500 BRAF 673 HP:0002863 Myelodysplasia ORPHANET:500 BRAF 673 HP:0000407 Sensorineural hearing impairment ORPHANET:500 BRAF 673 HP:0000028 Cryptorchidism ORPHANET:500 BRAF 673 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:500 BRAF 673 HP:0003006 Neuroblastoma ORPHANET:500 BRAF 673 HP:0001677 Coronary artery disease ORPHANET:500 BRAF 673 HP:0002617 Aneurysm ORPHANET:500 BRAF 673 HP:0002861 Melanoma ORPHANET:500 BRAF 673 HP:0002648 Abnormality of calvarial morphology ORPHANET:500 BRAF 673 HP:0001480 Freckling ORPHANET:500 BRAF 673 HP:0004306 Abnormality of the endocardium ORPHANET:500 BRAF 673 HP:0002650 Scoliosis ORPHANET:500 BRAF 673 HP:0000508 Ptosis ORPHANET:500 BRAF 673 HP:0003298 Spina bifida occulta ORPHANET:500 BRAF 673 HP:0004322 Short stature ORPHANET:500 BRAF 673 HP:0000325 Triangular face ORPHANET:500 BRAF 673 HP:0000465 Webbed neck OMIM:211600 ATP8B1 5205 HP:0002240 Hepatomegaly OMIM:211600 ATP8B1 5205 HP:0002014 Diarrhea OMIM:211600 ATP8B1 5205 HP:0001508 Failure to thrive OMIM:211600 ATP8B1 5205 HP:0006575 Intrahepatic cholestasis with episodic jaundice OMIM:211600 ATP8B1 5205 HP:0001744 Splenomegaly OMIM:211600 ATP8B1 5205 HP:0003593 Infantile onset OMIM:211600 ATP8B1 5205 HP:0000952 Jaundice OMIM:211600 ATP8B1 5205 HP:0000989 Pruritus OMIM:211600 ATP8B1 5205 HP:0002630 Fat malabsorption OMIM:211600 ATP8B1 5205 HP:0002908 Conjugated hyperbilirubinemia OMIM:211600 ATP8B1 5205 HP:0001394 Cirrhosis OMIM:211600 ATP8B1 5205 HP:0000007 Autosomal recessive inheritance OMIM:211600 ATP8B1 5205 HP:0003510 Severe short stature OMIM:601410 ZFP57 346171 HP:0003074 Hyperglycemia OMIM:601410 ZFP57 346171 HP:0001511 Intrauterine growth retardation OMIM:601410 ZFP57 346171 HP:0008255 Transient neonatal diabetes mellitus OMIM:601410 ZFP57 346171 HP:0001525 Severe failure to thrive OMIM:601410 ZFP57 346171 HP:0001944 Dehydration OMIM:607541 TGFBI 7045 HP:0000006 Autosomal dominant inheritance OMIM:607541 TGFBI 7045 HP:0000505 Visual impairment OMIM:607541 TGFBI 7045 HP:0001149 Lattice corneal dystrophy OMIM:614691 AGK 55750 HP:0000007 Autosomal recessive inheritance OMIM:614691 AGK 55750 HP:0000519 Congenital cataract OMIM:615516 HERC2 8924 HP:0000718 Aggressive behavior OMIM:615516 HERC2 8924 HP:0000486 Strabismus OMIM:615516 HERC2 8924 HP:0000189 Narrow palate OMIM:615516 HERC2 8924 HP:0002317 Unsteady gait OMIM:615516 HERC2 8924 HP:0001263 Global developmental delay OMIM:615516 HERC2 8924 HP:0000635 Blue irides OMIM:615516 HERC2 8924 HP:0001250 Seizures OMIM:615516 HERC2 8924 HP:0001852 Sandal gap OMIM:615516 HERC2 8924 HP:0001357 Plagiocephaly OMIM:615516 HERC2 8924 HP:0000007 Autosomal recessive inheritance OMIM:615516 HERC2 8924 HP:0000303 Mandibular prognathia OMIM:615516 HERC2 8924 HP:0003593 Infantile onset OMIM:615516 HERC2 8924 HP:0001252 Muscular hypotonia OMIM:615516 HERC2 8924 HP:0000742 Self-mutilation OMIM:615516 HERC2 8924 HP:0001249 Intellectual disability OMIM:615516 HERC2 8924 HP:0000752 Hyperactivity OMIM:612244 ABCB1 5243 HP:0002037 Inflammation of the large intestine OMIM:221200 SLITRK6 84189 HP:0001249 Intellectual disability OMIM:221200 SLITRK6 84189 HP:0000545 Myopia OMIM:221200 SLITRK6 84189 HP:0011003 Severe Myopia OMIM:221200 SLITRK6 84189 HP:0000405 Conductive hearing impairment OMIM:221200 SLITRK6 84189 HP:0000790 Hematuria OMIM:221200 SLITRK6 84189 HP:0000007 Autosomal recessive inheritance OMIM:221200 SLITRK6 84189 HP:0000093 Proteinuria OMIM:601198 CASR 846 HP:0002135 Basal ganglia calcification OMIM:601198 CASR 846 HP:0002901 Hypocalcemia OMIM:601198 CASR 846 HP:0000006 Autosomal dominant inheritance OMIM:601198 CASR 846 HP:0001281 Tetany OMIM:601198 CASR 846 HP:0002900 Hypokalemia OMIM:601198 CASR 846 HP:0001250 Seizures OMIM:601198 CASR 846 HP:0002917 Hypomagnesemia OMIM:601198 CASR 846 HP:0003401 Paresthesia OMIM:601198 CASR 846 HP:0003394 Muscle cramps OMIM:601198 CASR 846 HP:0012211 Abnormal renal physiology OMIM:601198 CASR 846 HP:0004322 Short stature OMIM:601198 CASR 846 HP:0000848 Increased circulating renin level OMIM:601198 CASR 846 HP:0002150 Hypercalciuria OMIM:601198 CASR 846 HP:0000787 Nephrolithiasis OMIM:601198 CASR 846 HP:0000121 Nephrocalcinosis OMIM:609535 CYP2C19 1557 HP:0000007 Autosomal recessive inheritance OMIM:610353 CHRNA2 1135 HP:0000006 Autosomal dominant inheritance OMIM:610353 CHRNA2 1135 HP:0001250 Seizures OMIM:610353 CHRNA2 1135 HP:0000708 Behavioral abnormality OMIM:122100 KRT3 3850 HP:0001131 Corneal dystrophy OMIM:122100 KRT3 3850 HP:0000006 Autosomal dominant inheritance OMIM:122100 KRT3 3850 HP:0007856 Punctate opacification of the cornea OMIM:122100 KRT3 3850 HP:0003680 Nonprogressive disorder OMIM:122100 KRT12 3859 HP:0001131 Corneal dystrophy OMIM:122100 KRT12 3859 HP:0000006 Autosomal dominant inheritance OMIM:122100 KRT12 3859 HP:0007856 Punctate opacification of the cornea OMIM:122100 KRT12 3859 HP:0003680 Nonprogressive disorder OMIM:106260 TP63 8626 HP:0009804 Reduced number of teeth OMIM:106260 TP63 8626 HP:0000347 Micrognathia OMIM:106260 TP63 8626 HP:0000377 Abnormality of the pinna OMIM:106260 TP63 8626 HP:0000006 Autosomal dominant inheritance OMIM:106260 TP63 8626 HP:0000970 Anhidrosis OMIM:106260 TP63 8626 HP:0002231 Sparse body hair OMIM:106260 TP63 8626 HP:0002208 Coarse hair OMIM:106260 TP63 8626 HP:0000405 Conductive hearing impairment OMIM:106260 TP63 8626 HP:0000498 Blepharitis OMIM:106260 TP63 8626 HP:0006101 Finger syndactyly OMIM:106260 TP63 8626 HP:0001629 Ventricular septal defect OMIM:106260 TP63 8626 HP:0000982 Palmoplantar keratoderma OMIM:106260 TP63 8626 HP:0000682 Abnormality of dental enamel OMIM:106260 TP63 8626 HP:0000047 Hypospadias OMIM:106260 TP63 8626 HP:0000054 Micropenis OMIM:106260 TP63 8626 HP:0009755 Ankyloblepharon OMIM:106260 TP63 8626 HP:0000561 Absent eyelashes OMIM:106260 TP63 8626 HP:0001592 Selective tooth agenesis OMIM:106260 TP63 8626 HP:0100840 Aplasia/Hypoplasia of the eyebrow OMIM:106260 TP63 8626 HP:0000366 Abnormality of the nose OMIM:106260 TP63 8626 HP:0008404 Nail dystrophy OMIM:106260 TP63 8626 HP:0000431 Wide nasal bridge OMIM:106260 TP63 8626 HP:0100335 Non-midline cleft lip OMIM:106260 TP63 8626 HP:0001643 Patent ductus arteriosus OMIM:106260 TP63 8626 HP:0011362 Abnormal hair quantity OMIM:106260 TP63 8626 HP:0000966 Hypohidrosis OMIM:106260 TP63 8626 HP:0002558 Supernumerary nipple OMIM:106260 TP63 8626 HP:0000653 Sparse eyelashes OMIM:106260 TP63 8626 HP:0004209 Clinodactyly of the 5th finger OMIM:106260 TP63 8626 HP:0000413 Atresia of the external auditory canal OMIM:106260 TP63 8626 HP:0000327 Hypoplasia of the maxilla OMIM:106260 TP63 8626 HP:0000687 Widely spaced teeth OMIM:106260 TP63 8626 HP:0000684 Delayed eruption of teeth OMIM:106260 TP63 8626 HP:0002232 Patchy alopecia OMIM:106260 TP63 8626 HP:0000668 Hypodontia OMIM:106260 TP63 8626 HP:0000698 Conical tooth OMIM:106260 TP63 8626 HP:0000175 Cleft palate OMIM:106260 TP63 8626 HP:0000707 Abnormality of the nervous system OMIM:106260 TP63 8626 HP:0001798 Anonychia OMIM:106260 TP63 8626 HP:0000300 Oval face OMIM:106260 TP63 8626 HP:0001608 Abnormality of the voice OMIM:106260 TP63 8626 HP:0006482 Abnormality of dental morphology OMIM:106260 TP63 8626 HP:0000204 Cleft upper lip OMIM:106260 TP63 8626 HP:0004691 2-3 toe syndactyly OMIM:106260 TP63 8626 HP:0007440 Generalized hyperpigmentation OMIM:106260 TP63 8626 HP:0000953 Hyperpigmentation of the skin OMIM:106260 TP63 8626 HP:0008388 Abnormality of the toenails OMIM:106260 TP63 8626 HP:0008050 Abnormality of the palpebral fissures OMIM:106260 TP63 8626 HP:0000632 Lacrimation abnormality OMIM:106260 TP63 8626 HP:0000509 Conjunctivitis OMIM:106260 TP63 8626 HP:0001795 Hyperconvex nail OMIM:106260 TP63 8626 HP:0000499 Abnormality of the eyelashes OMIM:106260 TP63 8626 HP:0000564 Lacrimal duct atresia OMIM:106260 TP63 8626 HP:0001231 Abnormality of the fingernails OMIM:242860 DNMT3B 1789 HP:0000158 Macroglossia OMIM:242860 DNMT3B 1789 HP:0000007 Autosomal recessive inheritance OMIM:242860 DNMT3B 1789 HP:0000246 Sinusitis OMIM:242860 DNMT3B 1789 HP:0010808 Protruding tongue OMIM:242860 DNMT3B 1789 HP:0002721 Immunodeficiency OMIM:242860 DNMT3B 1789 HP:0012368 Flat face OMIM:242860 DNMT3B 1789 HP:0000316 Hypertelorism OMIM:242860 DNMT3B 1789 HP:0002090 Pneumonia OMIM:242860 DNMT3B 1789 HP:0003196 Short nose OMIM:242860 DNMT3B 1789 HP:0000347 Micrognathia OMIM:242860 DNMT3B 1789 HP:0005403 T lymphocytopenia OMIM:242860 DNMT3B 1789 HP:0002110 Bronchiectasis OMIM:242860 DNMT3B 1789 HP:0001508 Failure to thrive OMIM:242860 DNMT3B 1789 HP:0004469 Chronic bronchitis OMIM:242860 DNMT3B 1789 HP:0004313 Hypogammaglobulinemia OMIM:242860 DNMT3B 1789 HP:0000272 Malar flattening OMIM:242860 DNMT3B 1789 HP:0002014 Diarrhea OMIM:242860 DNMT3B 1789 HP:0001249 Intellectual disability OMIM:242860 DNMT3B 1789 HP:0004322 Short stature OMIM:242860 DNMT3B 1789 HP:0005280 Depressed nasal bridge OMIM:242860 DNMT3B 1789 HP:0000463 Anteverted nares OMIM:242860 DNMT3B 1789 HP:0000369 Low-set ears OMIM:242860 DNMT3B 1789 HP:0000286 Epicanthus OMIM:242860 DNMT3B 1789 HP:0002024 Malabsorption OMIM:219700 CFTR 1080 HP:0004313 Hypogammaglobulinemia OMIM:219700 CFTR 1080 HP:0002205 Recurrent respiratory infections OMIM:219700 CFTR 1080 HP:0002240 Hepatomegaly OMIM:219700 CFTR 1080 HP:0001508 Failure to thrive OMIM:219700 CFTR 1080 HP:0002613 Biliary cirrhosis OMIM:219700 CFTR 1080 HP:0001944 Dehydration OMIM:219700 CFTR 1080 HP:0006532 Recurrent pneumonia OMIM:219700 CFTR 1080 HP:0001738 Exocrine pancreatic insufficiency OMIM:219700 CFTR 1080 HP:0006538 Recurrent bronchopulmonary infections OMIM:219700 CFTR 1080 HP:0001732 Abnormality of the pancreas OMIM:219700 CFTR 1080 HP:0002024 Malabsorption OMIM:219700 CFTR 1080 HP:0002110 Bronchiectasis OMIM:219700 CFTR 1080 HP:0012236 Elevated sweat chloride OMIM:219700 CFTR 1080 HP:0006528 Chronic lung disease OMIM:219700 CFTR 1080 HP:0000007 Autosomal recessive inheritance OMIM:219700 CFTR 1080 HP:0002099 Asthma OMIM:219700 CFTR 1080 HP:0004401 Meconium ileus OMIM:219700 CFTR 1080 HP:0001648 Cor pulmonale OMIM:219700 CFTR 1080 HP:0002035 Rectal prolapse OMIM:219700 CFTR 1080 HP:0002206 Pulmonary fibrosis OMIM:219700 CFTR 1080 HP:0003251 Male infertility OMIM:219700 CFTR 1080 HP:0002150 Hypercalciuria OMIM:612580 CDH15 1013 HP:0000006 Autosomal dominant inheritance OMIM:612580 CDH15 1013 HP:0001249 Intellectual disability OMIM:608647 HYDIN 54768 HP:0100582 Nasal polyposis OMIM:608647 HYDIN 54768 HP:0000007 Autosomal recessive inheritance OMIM:608647 HYDIN 54768 HP:0012384 Rhinitis OMIM:608647 HYDIN 54768 HP:0200073 Respiratory insufficiency due to defective ciliary clearance OMIM:608647 HYDIN 54768 HP:0002837 Recurrent bronchitis OMIM:608647 HYDIN 54768 HP:0011108 Recurrent sinusitis OMIM:608647 HYDIN 54768 HP:0003593 Infantile onset OMIM:608647 HYDIN 54768 HP:0002110 Bronchiectasis OMIM:608647 HYDIN 54768 HP:0012265 Ciliary dyskinesia OMIM:608647 HYDIN 54768 HP:0000403 Recurrent otitis media OMIM:615268 ATP8A2 51761 HP:0003577 Congenital onset OMIM:615268 ATP8A2 51761 HP:0002078 Truncal ataxia OMIM:615268 ATP8A2 51761 HP:0000007 Autosomal recessive inheritance OMIM:615268 ATP8A2 51761 HP:0001272 Cerebellar atrophy OMIM:615268 ATP8A2 51761 HP:0002540 Inability to walk OMIM:615268 ATP8A2 51761 HP:0001249 Intellectual disability OMIM:615268 ATP8A2 51761 HP:0007371 Corpus callosum atrophy OMIM:615268 ATP8A2 51761 HP:0001260 Dysarthria OMIM:615268 ATP8A2 51761 HP:0002059 Cerebral atrophy OMIM:186200 LMBR1 64327 HP:0001376 Limitation of joint mobility OMIM:186200 LMBR1 64327 HP:0001199 Triphalangeal thumb OMIM:186200 LMBR1 64327 HP:0001770 Toe syndactyly OMIM:186200 LMBR1 64327 HP:0010708 1-5 finger syndactyly OMIM:186200 LMBR1 64327 HP:0010442 Polydactyly OMIM:186200 LMBR1 64327 HP:0000006 Autosomal dominant inheritance OMIM:186200 LMBR1 64327 HP:0005917 Supernumerary metacarpal bones OMIM:186200 LMBR1 64327 HP:0006101 Finger syndactyly OMIM:186200 LMBR1 64327 HP:0001161 Hand polydactyly OMIM:186200 LMBR1 64327 HP:0001829 Foot polydactyly OMIM:186200 LMBR1 64327 HP:0001163 Abnormality of the metacarpal bones OMIM:186200 LMBR1 64327 HP:0006088 1-5 finger complete cutaneous syndactyly OMIM:186200 LMBR1 64327 HP:0002992 Abnormality of the tibia OMIM:186200 LMBR1 64327 HP:0004691 2-3 toe syndactyly OMIM:186200 LMBR1 64327 HP:0001501 6 metacarpals OMIM:186200 LMBR1 64327 HP:0100490 Camptodactyly of finger OMIM:146300 ALPL 249 HP:0000006 Autosomal dominant inheritance OMIM:146300 ALPL 249 HP:0001760 Abnormality of the foot OMIM:146300 ALPL 249 HP:0003282 Low alkaline phosphatase OMIM:146300 ALPL 249 HP:0002749 Osteomalacia OMIM:146300 ALPL 249 HP:0002756 Pathologic fracture OMIM:146300 ALPL 249 HP:0000007 Autosomal recessive inheritance OMIM:146300 ALPL 249 HP:0002748 Rickets OMIM:146300 ALPL 249 HP:0000934 Chondrocalcinosis OMIM:146300 ALPL 249 HP:0000670 Carious teeth OMIM:146300 ALPL 249 HP:0006323 Premature loss of primary teeth OMIM:146300 ALPL 249 HP:0006357 Premature loss of permanent teeth OMIM:146300 ALPL 249 HP:0002757 Recurrent fractures OMIM:117800 ABCC11 85320 HP:0003002 Breast carcinoma OMIM:117800 ABCC11 85320 HP:0000006 Autosomal dominant inheritance OMIM:117800 ABCC11 85320 HP:0000598 Abnormality of the ear OMIM:601386 CDH23 64072 HP:0000007 Autosomal recessive inheritance OMIM:601386 CDH23 64072 HP:0000478 Abnormality of the eye OMIM:601386 CDH23 64072 HP:0000399 Prelingual sensorineural hearing impairment OMIM:612319 FA2H 79152 HP:0002061 Lower limb spasticity OMIM:612319 FA2H 79152 HP:0000020 Urinary incontinence OMIM:612319 FA2H 79152 HP:0003487 Babinski sign OMIM:612319 FA2H 79152 HP:0002518 Abnormality of the periventricular white matter OMIM:612319 FA2H 79152 HP:0001332 Dystonia OMIM:612319 FA2H 79152 HP:0001249 Intellectual disability OMIM:612319 FA2H 79152 HP:0001260 Dysarthria OMIM:612319 FA2H 79152 HP:0006978 Dysmyelinating leukodystrophy OMIM:612319 FA2H 79152 HP:0000648 Optic atrophy OMIM:612319 FA2H 79152 HP:0001250 Seizures OMIM:612319 FA2H 79152 HP:0002079 Hypoplasia of the corpus callosum OMIM:612319 FA2H 79152 HP:0002355 Difficulty walking OMIM:612319 FA2H 79152 HP:0001272 Cerebellar atrophy OMIM:612319 FA2H 79152 HP:0000639 Nystagmus OMIM:612319 FA2H 79152 HP:0000544 External ophthalmoplegia OMIM:612319 FA2H 79152 HP:0002313 Spastic paraparesis OMIM:612319 FA2H 79152 HP:0000012 Urinary urgency OMIM:612319 FA2H 79152 HP:0001268 Mental deterioration OMIM:612319 FA2H 79152 HP:0003676 Progressive disorder OMIM:612319 FA2H 79152 HP:0000486 Strabismus OMIM:612319 FA2H 79152 HP:0001285 Spastic tetraparesis OMIM:612319 FA2H 79152 HP:0002180 Neurodegeneration OMIM:612319 FA2H 79152 HP:0000007 Autosomal recessive inheritance OMIM:612319 FA2H 79152 HP:0001258 Spastic paraplegia OMIM:612319 FA2H 79152 HP:0011448 Ankle clonus OMIM:612319 FA2H 79152 HP:0001310 Dysmetria OMIM:614482 SLC33A1 9197 HP:0010837 Decreased serum ceruloplasmin OMIM:614482 SLC33A1 9197 HP:0001344 Absent speech OMIM:614482 SLC33A1 9197 HP:0000007 Autosomal recessive inheritance OMIM:614482 SLC33A1 9197 HP:0002059 Cerebral atrophy OMIM:614482 SLC33A1 9197 HP:0003429 CNS hypomyelination OMIM:614482 SLC33A1 9197 HP:0003593 Infantile onset OMIM:614482 SLC33A1 9197 HP:0001252 Muscular hypotonia OMIM:614482 SLC33A1 9197 HP:0001263 Global developmental delay OMIM:614482 SLC33A1 9197 HP:0001272 Cerebellar atrophy OMIM:614482 SLC33A1 9197 HP:0003676 Progressive disorder OMIM:614482 SLC33A1 9197 HP:0000519 Congenital cataract OMIM:614482 SLC33A1 9197 HP:0001250 Seizures OMIM:614482 SLC33A1 9197 HP:0000639 Nystagmus OMIM:614482 SLC33A1 9197 HP:0000365 Hearing impairment OMIM:270300 CDSN 1041 HP:0000007 Autosomal recessive inheritance OMIM:270300 CDSN 1041 HP:0010783 Erythema OMIM:270300 CDSN 1041 HP:0010719 Abnormality of hair texture OMIM:270300 CDSN 1041 HP:0003577 Congenital onset OMIM:270300 CDSN 1041 HP:0001806 Onycholysis OMIM:270300 CDSN 1041 HP:0002099 Asthma OMIM:270300 CDSN 1041 HP:0003212 Increased IgE level OMIM:270300 CDSN 1041 HP:0000989 Pruritus OMIM:270300 CDSN 1041 HP:0004322 Short stature OMIM:270300 CDSN 1041 HP:0001939 Abnormality of metabolism/homeostasis OMIM:607095 RMRP 6023 HP:0000007 Autosomal recessive inheritance OMIM:607095 RMRP 6023 HP:0001831 Short toe OMIM:607095 RMRP 6023 HP:0002680 J-shaped sella turcica OMIM:607095 RMRP 6023 HP:0010585 Small epiphyses OMIM:607095 RMRP 6023 HP:0003308 Cervical subluxation OMIM:607095 RMRP 6023 HP:0000946 Hypoplastic ilia OMIM:607095 RMRP 6023 HP:0008905 Rhizomelia OMIM:607095 RMRP 6023 HP:0003015 Flared metaphysis OMIM:607095 RMRP 6023 HP:0000668 Hypodontia OMIM:607095 RMRP 6023 HP:0000470 Short neck OMIM:607095 RMRP 6023 HP:0001156 Brachydactyly syndrome OMIM:607095 RMRP 6023 HP:0001216 Delayed ossification of carpal bones OMIM:607095 RMRP 6023 HP:0009381 Short finger OMIM:607095 RMRP 6023 HP:0002341 Cervical cord compression OMIM:607095 RMRP 6023 HP:0000316 Hypertelorism OMIM:607095 RMRP 6023 HP:0001249 Intellectual disability OMIM:607095 RMRP 6023 HP:0000926 Platyspondyly OMIM:613154 LARGE 9215 HP:0003236 Elevated serum creatine phosphokinase OMIM:613154 LARGE 9215 HP:0000518 Cataract OMIM:613154 LARGE 9215 HP:0001305 Dandy-Walker malformation OMIM:613154 LARGE 9215 HP:0003560 Muscular dystrophy OMIM:613154 LARGE 9215 HP:0001284 Areflexia OMIM:613154 LARGE 9215 HP:0000007 Autosomal recessive inheritance OMIM:613154 LARGE 9215 HP:0007260 Type II lissencephaly OMIM:613154 LARGE 9215 HP:0000648 Optic atrophy OMIM:613154 LARGE 9215 HP:0012110 Hypoplasia of the pons OMIM:613154 LARGE 9215 HP:0007973 Retinal dysplasia OMIM:613154 LARGE 9215 HP:0001249 Intellectual disability OMIM:613154 LARGE 9215 HP:0000238 Hydrocephalus OMIM:613154 LARGE 9215 HP:0001371 Flexion contracture OMIM:613154 LARGE 9215 HP:0006829 Severe muscular hypotonia OMIM:237500 ABCC2 1244 HP:0003110 Abnormality of urine homeostasis OMIM:237500 ABCC2 1244 HP:0000952 Jaundice OMIM:237500 ABCC2 1244 HP:0004370 Abnormality of temperature regulation OMIM:237500 ABCC2 1244 HP:0002027 Abdominal pain OMIM:237500 ABCC2 1244 HP:0001928 Abnormality of coagulation OMIM:237500 ABCC2 1244 HP:0001080 Biliary tract abnormality OMIM:237500 ABCC2 1244 HP:0000007 Autosomal recessive inheritance OMIM:237500 ABCC2 1244 HP:0002240 Hepatomegaly OMIM:237500 ABCC2 1244 HP:0002908 Conjugated hyperbilirubinemia OMIM:237500 ABCC2 1244 HP:0004295 Abnormality of the gastric mucosa OMIM:278300 XDH 7498 HP:0000007 Autosomal recessive inheritance OMIM:278300 XDH 7498 HP:0003534 Reduced xanthine dehydrogenase activity OMIM:278300 XDH 7498 HP:0000126 Hydronephrosis OMIM:278300 XDH 7498 HP:0010934 Xanthinuria OMIM:278300 XDH 7498 HP:0012330 Pyelonephritis OMIM:278300 XDH 7498 HP:0003198 Myopathy OMIM:278300 XDH 7498 HP:0000804 Xanthine nephrolithiasis OMIM:614852 CEP152 22995 HP:0009879 Cortical gyral simplification OMIM:614852 CEP152 22995 HP:0000252 Microcephaly OMIM:614852 CEP152 22995 HP:0000007 Autosomal recessive inheritance OMIM:614852 CEP152 22995 HP:0100710 Impulsivity OMIM:614852 CEP152 22995 HP:0001335 Bimanual synkinesia OMIM:614852 CEP152 22995 HP:0000718 Aggressive behavior OMIM:607598 ERBB3 2065 HP:0007964 Degenerative vitreoretinopathy OMIM:607598 ERBB3 2065 HP:0002878 Respiratory failure OMIM:607598 ERBB3 2065 HP:0001629 Ventricular septal defect OMIM:607598 ERBB3 2065 HP:0001561 Polyhydramnios OMIM:607598 ERBB3 2065 HP:0000007 Autosomal recessive inheritance OMIM:607598 ERBB3 2065 HP:0000347 Micrognathia OMIM:607598 ERBB3 2065 HP:0000126 Hydronephrosis OMIM:607598 ERBB3 2065 HP:0003202 Skeletal muscle atrophy OMIM:607598 ERBB3 2065 HP:0000969 Edema OMIM:607598 ERBB3 2065 HP:0011003 Severe Myopia OMIM:607598 ERBB3 2065 HP:0002304 Akinesia OMIM:607598 ERBB3 2065 HP:0001644 Dilated cardiomyopathy OMIM:607598 ERBB3 2065 HP:0001558 Decreased fetal movement OMIM:607598 ERBB3 2065 HP:0002804 Arthrogryposis multiplex congenita OMIM:187900 GFI1B 8328 HP:0011974 Myelofibrosis OMIM:187900 GFI1B 8328 HP:0003828 Variable expressivity OMIM:187900 GFI1B 8328 HP:0001873 Thrombocytopenia OMIM:187900 GFI1B 8328 HP:0000007 Autosomal recessive inheritance OMIM:187900 GFI1B 8328 HP:0001892 Abnormal bleeding OMIM:187900 GFI1B 8328 HP:0002239 Gastrointestinal hemorrhage OMIM:187900 GFI1B 8328 HP:0000978 Bruising susceptibility OMIM:187900 GFI1B 8328 HP:0000006 Autosomal dominant inheritance OMIM:187900 GFI1B 8328 HP:0003337 Reduced prothrombin consumption OMIM:187900 GFI1B 8328 HP:0003593 Infantile onset OMIM:187900 GFI1B 8328 HP:0003010 Prolonged bleeding time OMIM:187900 GFI1B 8328 HP:0000421 Epistaxis OMIM:300066 SMPX 23676 HP:0001423 X-linked dominant inheritance OMIM:300066 SMPX 23676 HP:0011463 Childhood onset OMIM:300066 SMPX 23676 HP:0005101 High-frequency hearing impairment OMIM:300066 SMPX 23676 HP:0000407 Sensorineural hearing impairment OMIM:128200 PRRT2 112476 HP:0002310 Orofacial dyskinesia OMIM:128200 PRRT2 112476 HP:0002268 Paroxysmal dystonia OMIM:128200 PRRT2 112476 HP:0000006 Autosomal dominant inheritance OMIM:128200 PRRT2 112476 HP:0003829 Incomplete penetrance OMIM:128200 PRRT2 112476 HP:0007098 Paroxysmal choreoathetosis OMIM:128200 PRRT2 112476 HP:0000271 Abnormality of the face OMIM:128200 PRRT2 112476 HP:0001250 Seizures OMIM:181500 DISC2 27184 HP:0000006 Autosomal dominant inheritance OMIM:181500 DISC2 27184 HP:0100753 Schizophrenia OMIM:181500 DISC2 27184 HP:0000746 Delusions OMIM:181500 DISC2 27184 HP:0000738 Hallucinations OMIM:181500 DISC2 27184 HP:0007086 Social and occupational deterioration OMIM:181500 DISC2 27184 HP:0002353 EEG abnormality OMIM:181500 DISC2 27184 HP:0001425 Heterogeneous OMIM:146000 FGFR3 2261 HP:0009811 Abnormality of the elbow OMIM:146000 FGFR3 2261 HP:0003307 Hyperlordosis OMIM:146000 FGFR3 2261 HP:0000006 Autosomal dominant inheritance OMIM:146000 FGFR3 2261 HP:0002652 Skeletal dysplasia OMIM:146000 FGFR3 2261 HP:0000256 Macrocephaly OMIM:146000 FGFR3 2261 HP:0001831 Short toe OMIM:146000 FGFR3 2261 HP:0000272 Malar flattening OMIM:146000 FGFR3 2261 HP:0003312 Abnormal form of the vertebral bodies OMIM:146000 FGFR3 2261 HP:0002007 Frontal bossing OMIM:146000 FGFR3 2261 HP:0002938 Lumbar hyperlordosis OMIM:146000 FGFR3 2261 HP:0001249 Intellectual disability OMIM:146000 FGFR3 2261 HP:0001156 Brachydactyly syndrome OMIM:146000 FGFR3 2261 HP:0002970 Genu varum OMIM:146000 FGFR3 2261 HP:0001377 Limited elbow extension OMIM:146000 FGFR3 2261 HP:0100543 Cognitive impairment OMIM:146000 FGFR3 2261 HP:0002823 Abnormality of the femur OMIM:146000 FGFR3 2261 HP:0002983 Micromelia OMIM:146000 FGFR3 2261 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:146000 FGFR3 2261 HP:0003026 Short long bone OMIM:146000 FGFR3 2261 HP:0003416 Spinal canal stenosis OMIM:146000 FGFR3 2261 HP:0002104 Apnea OMIM:146000 FGFR3 2261 HP:0002758 Osteoarthritis OMIM:146000 FGFR3 2261 HP:0011405 Childhood onset short-limb short stature OMIM:146000 FGFR3 2261 HP:0004322 Short stature OMIM:146000 FGFR3 2261 HP:0001382 Joint hypermobility OMIM:146000 FGFR3 2261 HP:0003015 Flared metaphysis OMIM:146000 FGFR3 2261 HP:0002650 Scoliosis OMIM:146000 FGFR3 2261 HP:0009815 Aplasia/hypoplasia of the extremities OMIM:604393 AIPL1 23746 HP:0007401 Noninflammatory macular atrophy OMIM:604393 AIPL1 23746 HP:0000563 Keratoconus OMIM:604393 AIPL1 23746 HP:0000007 Autosomal recessive inheritance OMIM:604393 AIPL1 23746 HP:0012043 Pendular nystagmus OMIM:604393 AIPL1 23746 HP:0007843 Attenuation of retinal blood vessels OMIM:604393 AIPL1 23746 HP:0007663 Decreased central vision OMIM:604393 AIPL1 23746 HP:0000548 Cone-rod dystrophy OMIM:604393 AIPL1 23746 HP:0007688 Absent rod-and cone-mediated responses on ERG OMIM:604393 AIPL1 23746 HP:0000662 Night blindness OMIM:604393 AIPL1 23746 HP:0000543 Optic disc pallor OMIM:612095 PROM1 8842 HP:0000608 Macular degeneration OMIM:612095 PROM1 8842 HP:0000510 Retinitis pigmentosa OMIM:612095 PROM1 8842 HP:0000662 Night blindness OMIM:612095 PROM1 8842 HP:0000007 Autosomal recessive inheritance OMIM:612095 PROM1 8842 HP:0000550 Abolished electroretinogram (ERG) OMIM:616033 TRMT10A 93587 HP:0000252 Microcephaly OMIM:616033 TRMT10A 93587 HP:0001388 Joint laxity OMIM:616033 TRMT10A 93587 HP:0000786 Primary amenorrhea OMIM:616033 TRMT10A 93587 HP:0000445 Wide nose OMIM:616033 TRMT10A 93587 HP:0001249 Intellectual disability OMIM:616033 TRMT10A 93587 HP:0004322 Short stature OMIM:616033 TRMT10A 93587 HP:0002650 Scoliosis OMIM:616033 TRMT10A 93587 HP:0001270 Motor delay OMIM:616033 TRMT10A 93587 HP:0000470 Short neck OMIM:616033 TRMT10A 93587 HP:0000939 Osteoporosis OMIM:616033 TRMT10A 93587 HP:0000825 Hyperinsulinemic hypoglycemia OMIM:616033 TRMT10A 93587 HP:0000823 Delayed puberty OMIM:609734 POMC 5443 HP:0001396 Cholestasis OMIM:609734 POMC 5443 HP:0000846 Adrenal insufficiency OMIM:609734 POMC 5443 HP:0002173 Hypoglycemic seizures OMIM:609734 POMC 5443 HP:0000007 Autosomal recessive inheritance OMIM:609734 POMC 5443 HP:0001513 Obesity OMIM:609734 POMC 5443 HP:0011748 Adrenocorticotropic hormone deficiency OMIM:609734 POMC 5443 HP:0002297 Red hair OMIM:307200 BTK 695 HP:0004322 Short stature OMIM:307200 BTK 695 HP:0000024 Prostatitis OMIM:307200 BTK 695 HP:0002014 Diarrhea OMIM:307200 BTK 695 HP:0000999 Pyoderma OMIM:307200 BTK 695 HP:0001287 Meningitis OMIM:307200 BTK 695 HP:0000389 Chronic otitis media OMIM:307200 BTK 695 HP:0003095 Septic arthritis OMIM:307200 BTK 695 HP:0002750 Delayed skeletal maturation OMIM:307200 BTK 695 HP:0003729 Enteroviral dermatomyositis syndrome OMIM:307200 BTK 695 HP:0003139 Panhypogammaglobulinemia OMIM:307200 BTK 695 HP:0000246 Sinusitis OMIM:307200 BTK 695 HP:0002743 Recurrent enteroviral infections OMIM:307200 BTK 695 HP:0000010 Recurrent urinary tract infections OMIM:307200 BTK 695 HP:0002718 Recurrent bacterial infections OMIM:307200 BTK 695 HP:0002090 Pneumonia OMIM:307200 BTK 695 HP:0000509 Conjunctivitis OMIM:307200 BTK 695 HP:0001419 X-linked recessive inheritance OMIM:307200 BTK 695 HP:0002383 Encephalitis OMIM:307200 BTK 695 HP:0000365 Hearing impairment OMIM:307200 BTK 695 HP:0001412 Enteroviral hepatitis OMIM:307200 BTK 695 HP:0000031 Epididymitis OMIM:307200 BTK 695 HP:0000824 Growth hormone deficiency OMIM:615770 NUP155 9631 HP:0004749 Atrial flutter OMIM:615770 NUP155 9631 HP:0005110 Atrial fibrillation OMIM:609524 FLNC 2318 HP:0003581 Adult onset OMIM:609524 FLNC 2318 HP:0003555 Muscle fiber splitting OMIM:609524 FLNC 2318 HP:0003551 Difficulty climbing stairs OMIM:609524 FLNC 2318 HP:0003236 Elevated serum creatine phosphokinase OMIM:609524 FLNC 2318 HP:0003677 Slow progression OMIM:609524 FLNC 2318 HP:0000006 Autosomal dominant inheritance OMIM:609524 FLNC 2318 HP:0003715 Myofibrillar myopathy OMIM:609524 FLNC 2318 HP:0100303 Muscle fiber cytoplasmatic inclusion bodies OMIM:609524 FLNC 2318 HP:0003701 Proximal muscle weakness OMIM:609524 FLNC 2318 HP:0000759 Abnormal peripheral nervous system morphology OMIM:609524 FLNC 2318 HP:0002515 Waddling gait OMIM:609524 FLNC 2318 HP:0002093 Respiratory insufficiency OMIM:613990 TINF2 26277 HP:0001251 Ataxia OMIM:613990 TINF2 26277 HP:0000006 Autosomal dominant inheritance OMIM:613990 TINF2 26277 HP:0002216 Premature graying of hair OMIM:613990 TINF2 26277 HP:0002514 Cerebral calcification OMIM:613990 TINF2 26277 HP:0001596 Alopecia OMIM:613990 TINF2 26277 HP:0000488 Retinopathy OMIM:613990 TINF2 26277 HP:0001915 Aplastic anemia OMIM:613990 TINF2 26277 HP:0000939 Osteoporosis OMIM:613990 TINF2 26277 HP:0000750 Delayed speech and language development OMIM:613990 TINF2 26277 HP:0005528 Bone marrow hypocellularity OMIM:613990 TINF2 26277 HP:0009926 Increased lacrimation OMIM:613990 TINF2 26277 HP:0001882 Leukopenia OMIM:613990 TINF2 26277 HP:0000958 Dry skin OMIM:613990 TINF2 26277 HP:0007427 Reticulated skin pigmentation OMIM:613990 TINF2 26277 HP:0002745 Oral leukoplakia OMIM:613990 TINF2 26277 HP:0000252 Microcephaly OMIM:613990 TINF2 26277 HP:0001321 Cerebellar hypoplasia OMIM:613990 TINF2 26277 HP:0002206 Pulmonary fibrosis OMIM:613990 TINF2 26277 HP:0002164 Nail dysplasia OMIM:613990 TINF2 26277 HP:0000028 Cryptorchidism OMIM:613990 TINF2 26277 HP:0004322 Short stature OMIM:613990 TINF2 26277 HP:0000365 Hearing impairment OMIM:613990 TINF2 26277 HP:0001511 Intrauterine growth retardation OMIM:613990 TINF2 26277 HP:0001873 Thrombocytopenia ORPHANET:821 NSD1 64324 HP:0000303 Mandibular prognathia ORPHANET:821 NSD1 64324 HP:0005616 Accelerated skeletal maturation ORPHANET:821 NSD1 64324 HP:0000174 Abnormality of the palate ORPHANET:821 NSD1 64324 HP:0100543 Cognitive impairment ORPHANET:821 NSD1 64324 HP:0000486 Strabismus ORPHANET:821 NSD1 64324 HP:0002650 Scoliosis ORPHANET:821 NSD1 64324 HP:0003272 Abnormality of the hip bone ORPHANET:821 NSD1 64324 HP:0001943 Hypoglycemia ORPHANET:821 NSD1 64324 HP:0001250 Seizures ORPHANET:821 NSD1 64324 HP:0002857 Genu valgum ORPHANET:821 NSD1 64324 HP:0000069 Abnormality of the ureter ORPHANET:821 NSD1 64324 HP:0000494 Downslanted palpebral fissures ORPHANET:821 NSD1 64324 HP:0009793 Presacral teratoma ORPHANET:821 NSD1 64324 HP:0000405 Conductive hearing impairment ORPHANET:821 NSD1 64324 HP:0002007 Frontal bossing ORPHANET:821 NSD1 64324 HP:0001671 Abnormality of the cardiac septa ORPHANET:821 NSD1 64324 HP:0002353 EEG abnormality ORPHANET:821 NSD1 64324 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:821 NSD1 64324 HP:0002119 Ventriculomegaly ORPHANET:821 NSD1 64324 HP:0001252 Muscular hypotonia ORPHANET:821 NSD1 64324 HP:0001513 Obesity ORPHANET:821 NSD1 64324 HP:0000280 Coarse facial features ORPHANET:821 NSD1 64324 HP:0000268 Dolichocephaly ORPHANET:821 NSD1 64324 HP:0000098 Tall stature ORPHANET:821 NSD1 64324 HP:0000028 Cryptorchidism ORPHANET:821 NSD1 64324 HP:0001643 Patent ductus arteriosus ORPHANET:821 NSD1 64324 HP:0004375 Neoplasm of the nervous system ORPHANET:821 NSD1 64324 HP:0010978 Abnormality of immune system physiology ORPHANET:821 NSD1 64324 HP:0001363 Craniosynostosis ORPHANET:821 NSD1 64324 HP:0000463 Anteverted nares ORPHANET:821 NSD1 64324 HP:0000708 Behavioral abnormality ORPHANET:821 NSD1 64324 HP:0100627 Displacement of the external urethral meatus ORPHANET:821 NSD1 64324 HP:0000348 High forehead ORPHANET:821 NSD1 64324 HP:0001347 Hyperreflexia ORPHANET:821 NSD1 64324 HP:0000457 Depressed nasal ridge ORPHANET:821 NSD1 64324 HP:0000826 Precocious puberty ORPHANET:821 NSD1 64324 HP:0006288 Advanced eruption of teeth ORPHANET:821 NSD1 64324 HP:0000347 Micrognathia ORPHANET:821 NSD1 64324 HP:0000400 Macrotia ORPHANET:821 NSD1 64324 HP:0000256 Macrocephaly ORPHANET:821 NSD1 64324 HP:0000316 Hypertelorism ORPHANET:821 NSD1 64324 HP:0001231 Abnormality of the fingernails ORPHANET:821 NSD1 64324 HP:0000113 Polycystic kidney dysplasia ORPHANET:821 NSD1 64324 HP:0002970 Genu varum ORPHANET:821 SETD2 29072 HP:0000303 Mandibular prognathia ORPHANET:821 SETD2 29072 HP:0005616 Accelerated skeletal maturation ORPHANET:821 SETD2 29072 HP:0000174 Abnormality of the palate ORPHANET:821 SETD2 29072 HP:0100543 Cognitive impairment ORPHANET:821 SETD2 29072 HP:0000486 Strabismus ORPHANET:821 SETD2 29072 HP:0002650 Scoliosis ORPHANET:821 SETD2 29072 HP:0003272 Abnormality of the hip bone ORPHANET:821 SETD2 29072 HP:0001943 Hypoglycemia ORPHANET:821 SETD2 29072 HP:0001250 Seizures ORPHANET:821 SETD2 29072 HP:0002857 Genu valgum ORPHANET:821 SETD2 29072 HP:0000069 Abnormality of the ureter ORPHANET:821 SETD2 29072 HP:0000494 Downslanted palpebral fissures ORPHANET:821 SETD2 29072 HP:0009793 Presacral teratoma ORPHANET:821 SETD2 29072 HP:0000405 Conductive hearing impairment ORPHANET:821 SETD2 29072 HP:0002007 Frontal bossing ORPHANET:821 SETD2 29072 HP:0001671 Abnormality of the cardiac septa ORPHANET:821 SETD2 29072 HP:0002353 EEG abnormality ORPHANET:821 SETD2 29072 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:821 SETD2 29072 HP:0002119 Ventriculomegaly ORPHANET:821 SETD2 29072 HP:0001252 Muscular hypotonia ORPHANET:821 SETD2 29072 HP:0001513 Obesity ORPHANET:821 SETD2 29072 HP:0000280 Coarse facial features ORPHANET:821 SETD2 29072 HP:0000268 Dolichocephaly ORPHANET:821 SETD2 29072 HP:0000098 Tall stature ORPHANET:821 SETD2 29072 HP:0000028 Cryptorchidism ORPHANET:821 SETD2 29072 HP:0001643 Patent ductus arteriosus ORPHANET:821 SETD2 29072 HP:0004375 Neoplasm of the nervous system ORPHANET:821 SETD2 29072 HP:0010978 Abnormality of immune system physiology ORPHANET:821 SETD2 29072 HP:0001363 Craniosynostosis ORPHANET:821 SETD2 29072 HP:0000463 Anteverted nares ORPHANET:821 SETD2 29072 HP:0000708 Behavioral abnormality ORPHANET:821 SETD2 29072 HP:0100627 Displacement of the external urethral meatus ORPHANET:821 SETD2 29072 HP:0000348 High forehead ORPHANET:821 SETD2 29072 HP:0001347 Hyperreflexia ORPHANET:821 SETD2 29072 HP:0000457 Depressed nasal ridge ORPHANET:821 SETD2 29072 HP:0000826 Precocious puberty ORPHANET:821 SETD2 29072 HP:0006288 Advanced eruption of teeth ORPHANET:821 SETD2 29072 HP:0000347 Micrognathia ORPHANET:821 SETD2 29072 HP:0000400 Macrotia ORPHANET:821 SETD2 29072 HP:0000256 Macrocephaly ORPHANET:821 SETD2 29072 HP:0000316 Hypertelorism ORPHANET:821 SETD2 29072 HP:0001231 Abnormality of the fingernails ORPHANET:821 SETD2 29072 HP:0000113 Polycystic kidney dysplasia ORPHANET:821 SETD2 29072 HP:0002970 Genu varum ORPHANET:821 NFIX 4784 HP:0000303 Mandibular prognathia ORPHANET:821 NFIX 4784 HP:0005616 Accelerated skeletal maturation ORPHANET:821 NFIX 4784 HP:0000174 Abnormality of the palate ORPHANET:821 NFIX 4784 HP:0100543 Cognitive impairment ORPHANET:821 NFIX 4784 HP:0000486 Strabismus ORPHANET:821 NFIX 4784 HP:0002650 Scoliosis ORPHANET:821 NFIX 4784 HP:0003272 Abnormality of the hip bone ORPHANET:821 NFIX 4784 HP:0001943 Hypoglycemia ORPHANET:821 NFIX 4784 HP:0001250 Seizures ORPHANET:821 NFIX 4784 HP:0002857 Genu valgum ORPHANET:821 NFIX 4784 HP:0000069 Abnormality of the ureter ORPHANET:821 NFIX 4784 HP:0000494 Downslanted palpebral fissures ORPHANET:821 NFIX 4784 HP:0009793 Presacral teratoma ORPHANET:821 NFIX 4784 HP:0000405 Conductive hearing impairment ORPHANET:821 NFIX 4784 HP:0002007 Frontal bossing ORPHANET:821 NFIX 4784 HP:0001671 Abnormality of the cardiac septa ORPHANET:821 NFIX 4784 HP:0002353 EEG abnormality ORPHANET:821 NFIX 4784 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:821 NFIX 4784 HP:0002119 Ventriculomegaly ORPHANET:821 NFIX 4784 HP:0001252 Muscular hypotonia ORPHANET:821 NFIX 4784 HP:0001513 Obesity ORPHANET:821 NFIX 4784 HP:0000280 Coarse facial features ORPHANET:821 NFIX 4784 HP:0000268 Dolichocephaly ORPHANET:821 NFIX 4784 HP:0000098 Tall stature ORPHANET:821 NFIX 4784 HP:0000028 Cryptorchidism ORPHANET:821 NFIX 4784 HP:0001643 Patent ductus arteriosus ORPHANET:821 NFIX 4784 HP:0004375 Neoplasm of the nervous system ORPHANET:821 NFIX 4784 HP:0010978 Abnormality of immune system physiology ORPHANET:821 NFIX 4784 HP:0001363 Craniosynostosis ORPHANET:821 NFIX 4784 HP:0000463 Anteverted nares ORPHANET:821 NFIX 4784 HP:0000708 Behavioral abnormality ORPHANET:821 NFIX 4784 HP:0100627 Displacement of the external urethral meatus ORPHANET:821 NFIX 4784 HP:0000348 High forehead ORPHANET:821 NFIX 4784 HP:0001347 Hyperreflexia ORPHANET:821 NFIX 4784 HP:0000457 Depressed nasal ridge ORPHANET:821 NFIX 4784 HP:0000826 Precocious puberty ORPHANET:821 NFIX 4784 HP:0006288 Advanced eruption of teeth ORPHANET:821 NFIX 4784 HP:0000347 Micrognathia ORPHANET:821 NFIX 4784 HP:0000400 Macrotia ORPHANET:821 NFIX 4784 HP:0000256 Macrocephaly ORPHANET:821 NFIX 4784 HP:0000316 Hypertelorism ORPHANET:821 NFIX 4784 HP:0001231 Abnormality of the fingernails ORPHANET:821 NFIX 4784 HP:0000113 Polycystic kidney dysplasia ORPHANET:821 NFIX 4784 HP:0002970 Genu varum OMIM:102700 ADA 100 HP:0002841 Recurrent fungal infections OMIM:102700 ADA 100 HP:0000907 Anterior rib cupping OMIM:102700 ADA 100 HP:0005365 Severe B lymphocytopenia OMIM:102700 ADA 100 HP:0001508 Failure to thrive OMIM:102700 ADA 100 HP:0002090 Pneumonia OMIM:102700 ADA 100 HP:0004429 Recurrent viral infections OMIM:102700 ADA 100 HP:0002850 IgM deficiency OMIM:102700 ADA 100 HP:0005359 Aplasia of the thymus OMIM:102700 ADA 100 HP:0002718 Recurrent bacterial infections OMIM:102700 ADA 100 HP:0000926 Platyspondyly OMIM:102700 ADA 100 HP:0005424 Absent specific antibody response OMIM:102700 ADA 100 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:102700 ADA 100 HP:0002099 Asthma OMIM:102700 ADA 100 HP:0010976 B lymphocytopenia OMIM:102700 ADA 100 HP:0004430 Severe combined immunodeficiency OMIM:102700 ADA 100 HP:0000246 Sinusitis OMIM:102700 ADA 100 HP:0001880 Eosinophilia OMIM:102700 ADA 100 HP:0001967 Diffuse mesangial sclerosis OMIM:102700 ADA 100 HP:0001888 Lymphopenia OMIM:102700 ADA 100 HP:0001890 Autoimmune hemolytic anemia OMIM:102700 ADA 100 HP:0001744 Splenomegaly OMIM:102700 ADA 100 HP:0000007 Autosomal recessive inheritance OMIM:102700 ADA 100 HP:0012191 B-cell lymphoma OMIM:102700 ADA 100 HP:0001442 Somatic mosaicism OMIM:102700 ADA 100 HP:0001973 Autoimmune thrombocytopenia OMIM:102700 ADA 100 HP:0002240 Hepatomegaly OMIM:102700 ADA 100 HP:0003212 Increased IgE level OMIM:102700 ADA 100 HP:0030273 Reduced red cell adenosine deaminase activity OMIM:102700 ADA 100 HP:0002720 IgA deficiency OMIM:102700 ADA 100 HP:0002014 Diarrhea OMIM:102700 ADA 100 HP:0008348 Immunoglobulin IgG2 deficiency OMIM:612780 KCNJ10 3766 HP:0000127 Renal salt wasting OMIM:612780 KCNJ10 3766 HP:0000805 Enuresis OMIM:612780 KCNJ10 3766 HP:0012606 Renal sodium wasting OMIM:612780 KCNJ10 3766 HP:0002900 Hypokalemia OMIM:612780 KCNJ10 3766 HP:0000007 Autosomal recessive inheritance OMIM:612780 KCNJ10 3766 HP:0004322 Short stature OMIM:612780 KCNJ10 3766 HP:0001250 Seizures OMIM:612780 KCNJ10 3766 HP:0002075 Dysdiadochokinesis OMIM:612780 KCNJ10 3766 HP:0007182 Peripheral hypomyelination OMIM:612780 KCNJ10 3766 HP:0002917 Hypomagnesemia OMIM:612780 KCNJ10 3766 HP:0001252 Muscular hypotonia OMIM:612780 KCNJ10 3766 HP:0000750 Delayed speech and language development OMIM:612780 KCNJ10 3766 HP:0001960 Hypokalemic metabolic alkalosis OMIM:612780 KCNJ10 3766 HP:0001263 Global developmental delay OMIM:612780 KCNJ10 3766 HP:0001959 Polydipsia OMIM:612780 KCNJ10 3766 HP:0007267 Chronic axonal neuropathy OMIM:612780 KCNJ10 3766 HP:0003593 Infantile onset OMIM:612780 KCNJ10 3766 HP:0030083 Salt craving OMIM:612780 KCNJ10 3766 HP:0000103 Polyuria OMIM:612780 KCNJ10 3766 HP:0001272 Cerebellar atrophy OMIM:612780 KCNJ10 3766 HP:0000859 Hyperaldosteronism OMIM:612780 KCNJ10 3766 HP:0001249 Intellectual disability OMIM:612780 KCNJ10 3766 HP:0003127 Hypocalciuria OMIM:612780 KCNJ10 3766 HP:0000848 Increased circulating renin level OMIM:612780 KCNJ10 3766 HP:0000407 Sensorineural hearing impairment OMIM:612780 KCNJ10 3766 HP:0002080 Intention tremor OMIM:612780 KCNJ10 3766 HP:0000128 Renal potassium wasting OMIM:231090 NLRP7 199713 HP:0000119 Abnormality of the genitourinary system OMIM:231090 NLRP7 199713 HP:0000007 Autosomal recessive inheritance OMIM:615542 GATA4 2626 HP:0001636 Tetralogy of Fallot OMIM:615542 GATA4 2626 HP:0000051 Perineal hypospadias OMIM:615542 GATA4 2626 HP:0008715 Testicular dysgenesis OMIM:615542 GATA4 2626 HP:0000062 Ambiguous genitalia OMIM:615542 GATA4 2626 HP:0000006 Autosomal dominant inheritance OMIM:615542 GATA4 2626 HP:0000028 Cryptorchidism OMIM:615542 GATA4 2626 HP:0000054 Micropenis OMIM:615542 GATA4 2626 HP:0030260 Microphallus OMIM:613559 C12ORF65 91574 HP:0003676 Progressive disorder OMIM:613559 C12ORF65 91574 HP:0001260 Dysarthria OMIM:613559 C12ORF65 91574 HP:0001349 Facial diplegia OMIM:613559 C12ORF65 91574 HP:0000602 Ophthalmoplegia OMIM:613559 C12ORF65 91574 HP:0000639 Nystagmus OMIM:613559 C12ORF65 91574 HP:0001251 Ataxia OMIM:613559 C12ORF65 91574 HP:0002936 Distal sensory impairment OMIM:613559 C12ORF65 91574 HP:0000508 Ptosis OMIM:613559 C12ORF65 91574 HP:0001252 Muscular hypotonia OMIM:613559 C12ORF65 91574 HP:0001508 Failure to thrive OMIM:613559 C12ORF65 91574 HP:0000007 Autosomal recessive inheritance OMIM:613559 C12ORF65 91574 HP:0001263 Global developmental delay OMIM:613559 C12ORF65 91574 HP:0002490 Increased CSF lactate OMIM:613559 C12ORF65 91574 HP:0002376 Developmental regression OMIM:613559 C12ORF65 91574 HP:0001284 Areflexia OMIM:613559 C12ORF65 91574 HP:0000505 Visual impairment OMIM:613559 C12ORF65 91574 HP:0000648 Optic atrophy OMIM:613559 C12ORF65 91574 HP:0002151 Increased serum lactate OMIM:613559 C12ORF65 91574 HP:0003202 Skeletal muscle atrophy OMIM:613559 C12ORF65 91574 HP:0002590 Paralytic ileus OMIM:605637 MYH2 4620 HP:0002650 Scoliosis OMIM:605637 MYH2 4620 HP:0000508 Ptosis OMIM:605637 MYH2 4620 HP:0002460 Distal muscle weakness OMIM:605637 MYH2 4620 HP:0003691 Scapular winging OMIM:605637 MYH2 4620 HP:0000218 High palate OMIM:605637 MYH2 4620 HP:0002515 Waddling gait OMIM:605637 MYH2 4620 HP:0003198 Myopathy OMIM:605637 MYH2 4620 HP:0003324 Generalized muscle weakness OMIM:605637 MYH2 4620 HP:0100299 Muscle fiber inclusion bodies OMIM:605637 MYH2 4620 HP:0002058 Myopathic facies OMIM:605637 MYH2 4620 HP:0000467 Neck muscle weakness OMIM:605637 MYH2 4620 HP:0000007 Autosomal recessive inheritance OMIM:605637 MYH2 4620 HP:0003701 Proximal muscle weakness OMIM:613728 ANO10 55129 HP:0002078 Truncal ataxia OMIM:613728 ANO10 55129 HP:0000639 Nystagmus OMIM:613728 ANO10 55129 HP:0002066 Gait ataxia OMIM:613728 ANO10 55129 HP:0007338 Hypermetric saccades OMIM:613728 ANO10 55129 HP:0001347 Hyperreflexia OMIM:613728 ANO10 55129 HP:0002080 Intention tremor OMIM:613728 ANO10 55129 HP:0001310 Dysmetria OMIM:613728 ANO10 55129 HP:0000007 Autosomal recessive inheritance OMIM:613728 ANO10 55129 HP:0001272 Cerebellar atrophy OMIM:613728 ANO10 55129 HP:0002380 Fasciculations OMIM:613728 ANO10 55129 HP:0001260 Dysarthria OMIM:613728 ANO10 55129 HP:0002070 Limb ataxia OMIM:613728 ANO10 55129 HP:0001249 Intellectual disability OMIM:613728 ANO10 55129 HP:0001761 Pes cavus OMIM:613723 PLEC 5339 HP:0002938 Lumbar hyperlordosis OMIM:613723 PLEC 5339 HP:0001270 Motor delay OMIM:613723 PLEC 5339 HP:0003678 Rapidly progressive OMIM:613723 PLEC 5339 HP:0003324 Generalized muscle weakness OMIM:613723 PLEC 5339 HP:0003236 Elevated serum creatine phosphokinase OMIM:613723 PLEC 5339 HP:0001371 Flexion contracture OMIM:613723 PLEC 5339 HP:0000007 Autosomal recessive inheritance OMIM:613723 PLEC 5339 HP:0003560 Muscular dystrophy OMIM:613723 PLEC 5339 HP:0003202 Skeletal muscle atrophy OMIM:613723 PLEC 5339 HP:0003551 Difficulty climbing stairs OMIM:613723 PLEC 5339 HP:0003391 Gowers sign ORPHANET:50942 DSP 1832 HP:0001597 Abnormality of the nail ORPHANET:50942 DSP 1832 HP:0000982 Palmoplantar keratoderma ORPHANET:50942 KRT1 3848 HP:0001597 Abnormality of the nail ORPHANET:50942 KRT1 3848 HP:0000982 Palmoplantar keratoderma ORPHANET:50942 DSG1 1828 HP:0001597 Abnormality of the nail ORPHANET:50942 DSG1 1828 HP:0000982 Palmoplantar keratoderma OMIM:607625 NPC2 10577 HP:0001263 Global developmental delay OMIM:607625 NPC2 10577 HP:0002371 Loss of speech OMIM:607625 NPC2 10577 HP:0000511 Vertical supranuclear gaze palsy OMIM:607625 NPC2 10577 HP:0003464 Abnormal cholesterol homeostasis OMIM:607625 NPC2 10577 HP:0001791 Fetal ascites OMIM:607625 NPC2 10577 HP:0001982 Sea-blue histiocytosis OMIM:607625 NPC2 10577 HP:0000733 Stereotypic behavior OMIM:607625 NPC2 10577 HP:0004333 Bone-marrow foam cells OMIM:607625 NPC2 10577 HP:0001257 Spasticity OMIM:607625 NPC2 10577 HP:0002878 Respiratory failure OMIM:607625 NPC2 10577 HP:0001249 Intellectual disability OMIM:607625 NPC2 10577 HP:0000709 Psychosis OMIM:607625 NPC2 10577 HP:0006579 Prolonged neonatal jaundice OMIM:607625 NPC2 10577 HP:0002015 Dysphagia OMIM:607625 NPC2 10577 HP:0003640 Foam cells in visceral organs and CNS OMIM:607625 NPC2 10577 HP:0003674 Onset OMIM:607625 NPC2 10577 HP:0000007 Autosomal recessive inheritance OMIM:607625 NPC2 10577 HP:0002524 Cataplexy OMIM:607625 NPC2 10577 HP:0001251 Ataxia OMIM:607625 NPC2 10577 HP:0002185 Neurofibrillary tangles OMIM:607625 NPC2 10577 HP:0001744 Splenomegaly OMIM:607625 NPC2 10577 HP:0001250 Seizures OMIM:607625 NPC2 10577 HP:0003349 Low cholesterol esterification rates OMIM:607625 NPC2 10577 HP:0001332 Dystonia OMIM:607625 NPC2 10577 HP:0002240 Hepatomegaly OMIM:607625 NPC2 10577 HP:0000726 Dementia OMIM:607625 NPC2 10577 HP:0001260 Dysarthria OMIM:607625 NPC2 10577 HP:0001252 Muscular hypotonia OMIM:607625 NPC2 10577 HP:0030223 Perseveration ORPHANET:3329 BHLHA9 727857 HP:0002992 Abnormality of the tibia ORPHANET:3329 BHLHA9 727857 HP:0002991 Abnormality of the fibula ORPHANET:3329 BHLHA9 727857 HP:0001171 Split hand ORPHANET:3329 BHLHA9 727857 HP:0001156 Brachydactyly syndrome ORPHANET:3329 BHLHA9 727857 HP:0006101 Finger syndactyly ORPHANET:3329 BHLHA9 727857 HP:0000396 Overfolded helix ORPHANET:3329 BHLHA9 727857 HP:0001162 Postaxial hand polydactyly ORPHANET:3329 BHLHA9 727857 HP:0001539 Omphalocele ORPHANET:3329 BHLHA9 727857 HP:0002997 Abnormality of the ulna ORPHANET:3329 BHLHA9 727857 HP:0001177 Preaxial hand polydactyly ORPHANET:3329 BHLHA9 727857 HP:0001376 Limitation of joint mobility ORPHANET:3329 BHLHA9 727857 HP:0002823 Abnormality of the femur ORPHANET:3329 BHLHA9 727857 HP:0006443 Patellar aplasia ORPHANET:3329 BHLHA9 727857 HP:0009756 Popliteal pterygium OMIM:122560 CRH 1392 HP:0000007 Autosomal recessive inheritance OMIM:122560 CRH 1392 HP:0001274 Agenesis of corpus callosum OMIM:122560 CRH 1392 HP:0001250 Seizures OMIM:122560 CRH 1392 HP:0001999 Abnormal facial shape OMIM:122560 CRH 1392 HP:0000846 Adrenal insufficiency OMIM:122560 CRH 1392 HP:0001438 Abnormality of the abdomen OMIM:122560 CRH 1392 HP:0008240 Secondary growth hormone deficiency OMIM:122560 CRH 1392 HP:0001943 Hypoglycemia OMIM:314200 SERPINA7 6906 HP:0001263 Global developmental delay OMIM:314200 SERPINA7 6906 HP:0001419 X-linked recessive inheritance OMIM:314200 SERPINA7 6906 HP:0012509 Reduced thyroxin-binding globulin OMIM:256810 MPV17 4358 HP:0002910 Elevated hepatic transaminases OMIM:256810 MPV17 4358 HP:0003676 Progressive disorder OMIM:256810 MPV17 4358 HP:0001265 Hyporeflexia OMIM:256810 MPV17 4358 HP:0003128 Lactic acidosis OMIM:256810 MPV17 4358 HP:0001394 Cirrhosis OMIM:256810 MPV17 4358 HP:0000495 Recurrent corneal erosions OMIM:256810 MPV17 4358 HP:0001414 Microvesicular hepatic steatosis OMIM:256810 MPV17 4358 HP:0002715 Abnormality of the immune system OMIM:256810 MPV17 4358 HP:0006554 Acute hepatic failure OMIM:256810 MPV17 4358 HP:0001251 Ataxia OMIM:256810 MPV17 4358 HP:0001943 Hypoglycemia OMIM:256810 MPV17 4358 HP:0002460 Distal muscle weakness OMIM:256810 MPV17 4358 HP:0005010 Osteomyelitis leading to amputation due to slow healing fractures OMIM:256810 MPV17 4358 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:256810 MPV17 4358 HP:0004322 Short stature OMIM:256810 MPV17 4358 HP:0001252 Muscular hypotonia OMIM:256810 MPV17 4358 HP:0006579 Prolonged neonatal jaundice OMIM:256810 MPV17 4358 HP:0002659 Increased susceptibility to fractures OMIM:256810 MPV17 4358 HP:0007021 Pain insensitivity OMIM:256810 MPV17 4358 HP:0001760 Abnormality of the foot OMIM:256810 MPV17 4358 HP:0003593 Infantile onset OMIM:256810 MPV17 4358 HP:0000639 Nystagmus OMIM:256810 MPV17 4358 HP:0007141 Sensorimotor neuropathy OMIM:256810 MPV17 4358 HP:0002013 Vomiting OMIM:256810 MPV17 4358 HP:0002240 Hepatomegaly OMIM:256810 MPV17 4358 HP:0001284 Areflexia OMIM:256810 MPV17 4358 HP:0001226 Acral ulceration and osteomyelitis leading to autoamputation of digits OMIM:256810 MPV17 4358 HP:0001508 Failure to thrive OMIM:256810 MPV17 4358 HP:0001332 Dystonia OMIM:256810 MPV17 4358 HP:0001263 Global developmental delay OMIM:256810 MPV17 4358 HP:0003812 Phenotypic variability OMIM:256810 MPV17 4358 HP:0002661 Painless fractures due to injury OMIM:256810 MPV17 4358 HP:0000007 Autosomal recessive inheritance OMIM:256810 MPV17 4358 HP:0001403 Macrovesicular hepatic steatosis OMIM:256810 MPV17 4358 HP:0002014 Diarrhea OMIM:256810 MPV17 4358 HP:0006582 Reye syndrome-like episodes OMIM:614558 SCN8A 6334 HP:0001252 Muscular hypotonia OMIM:614558 SCN8A 6334 HP:0000006 Autosomal dominant inheritance OMIM:614558 SCN8A 6334 HP:0000717 Autism OMIM:614558 SCN8A 6334 HP:0002059 Cerebral atrophy OMIM:614558 SCN8A 6334 HP:0011097 Epileptic spasms OMIM:614558 SCN8A 6334 HP:0001249 Intellectual disability OMIM:614558 SCN8A 6334 HP:0002376 Developmental regression OMIM:614558 SCN8A 6334 HP:0001263 Global developmental delay OMIM:614558 SCN8A 6334 HP:0000252 Microcephaly OMIM:614558 SCN8A 6334 HP:0200134 Epileptic encephalopathy OMIM:615530 SYNJ1 8867 HP:0001260 Dysarthria OMIM:615530 SYNJ1 8867 HP:0002063 Rigidity OMIM:615530 SYNJ1 8867 HP:0002362 Shuffling gait OMIM:615530 SYNJ1 8867 HP:0001332 Dystonia OMIM:615530 SYNJ1 8867 HP:0002172 Postural instability OMIM:615530 SYNJ1 8867 HP:0000605 Supranuclear gaze palsy OMIM:615530 SYNJ1 8867 HP:0002067 Bradykinesia OMIM:615530 SYNJ1 8867 HP:0000658 Eyelid apraxia OMIM:615530 SYNJ1 8867 HP:0003676 Progressive disorder OMIM:615530 SYNJ1 8867 HP:0000007 Autosomal recessive inheritance OMIM:615530 SYNJ1 8867 HP:0001337 Tremor OMIM:615530 SYNJ1 8867 HP:0001300 Parkinsonism OMIM:615530 SYNJ1 8867 HP:0001268 Mental deterioration OMIM:114480 BRIP1 83990 HP:0000006 Autosomal dominant inheritance OMIM:114480 BRIP1 83990 HP:0003002 Breast carcinoma OMIM:114480 BRIP1 83990 HP:0001425 Heterogeneous OMIM:114480 AKT1 207 HP:0000006 Autosomal dominant inheritance OMIM:114480 AKT1 207 HP:0003002 Breast carcinoma OMIM:114480 AKT1 207 HP:0001425 Heterogeneous OMIM:114480 SLC22A18 5002 HP:0000006 Autosomal dominant inheritance OMIM:114480 SLC22A18 5002 HP:0003002 Breast carcinoma OMIM:114480 SLC22A18 5002 HP:0001425 Heterogeneous OMIM:114480 RB1CC1 9821 HP:0000006 Autosomal dominant inheritance OMIM:114480 RB1CC1 9821 HP:0003002 Breast carcinoma OMIM:114480 RB1CC1 9821 HP:0001425 Heterogeneous OMIM:114480 PIK3CA 5290 HP:0000006 Autosomal dominant inheritance OMIM:114480 PIK3CA 5290 HP:0003002 Breast carcinoma OMIM:114480 PIK3CA 5290 HP:0001425 Heterogeneous OMIM:114480 KRAS 3845 HP:0000006 Autosomal dominant inheritance OMIM:114480 KRAS 3845 HP:0003002 Breast carcinoma OMIM:114480 KRAS 3845 HP:0001425 Heterogeneous OMIM:114480 TP53 7157 HP:0000006 Autosomal dominant inheritance OMIM:114480 TP53 7157 HP:0003002 Breast carcinoma OMIM:114480 TP53 7157 HP:0001425 Heterogeneous OMIM:114480 PPM1D 8493 HP:0000006 Autosomal dominant inheritance OMIM:114480 PPM1D 8493 HP:0003002 Breast carcinoma OMIM:114480 PPM1D 8493 HP:0001425 Heterogeneous OMIM:114480 TSG101 7251 HP:0000006 Autosomal dominant inheritance OMIM:114480 TSG101 7251 HP:0003002 Breast carcinoma OMIM:114480 TSG101 7251 HP:0001425 Heterogeneous OMIM:615147 RBP4 5950 HP:0000482 Microcornea OMIM:615147 RBP4 5950 HP:0000007 Autosomal recessive inheritance OMIM:615147 RBP4 5950 HP:0000612 Iris coloboma OMIM:615147 RBP4 5950 HP:0000556 Retinal dystrophy OMIM:615147 RBP4 5950 HP:0000505 Visual impairment OMIM:615147 RBP4 5950 HP:0200070 Peripheral retinal atrophy OMIM:615147 RBP4 5950 HP:0001643 Patent ductus arteriosus OMIM:615147 RBP4 5950 HP:0040137 Comodogenic acne OMIM:600132 TULP1 7287 HP:0000007 Autosomal recessive inheritance OMIM:600132 TULP1 7287 HP:0000510 Retinitis pigmentosa OMIM:149700 IGSF3 3321 HP:0000509 Conjunctivitis OMIM:149700 IGSF3 3321 HP:0000564 Lacrimal duct atresia OMIM:149700 IGSF3 3321 HP:0009926 Increased lacrimation OMIM:149700 IGSF3 3321 HP:0000006 Autosomal dominant inheritance OMIM:149700 IGSF3 3321 HP:0000246 Sinusitis OMIM:259420 COL1A2 1278 HP:0002808 Kyphosis OMIM:259420 COL1A2 1278 HP:0003179 Protrusio acetabuli OMIM:259420 COL1A2 1278 HP:0003023 Bowing of limbs due to multiple fractures OMIM:259420 COL1A2 1278 HP:0005758 Basilar impression OMIM:259420 COL1A2 1278 HP:0000325 Triangular face OMIM:259420 COL1A2 1278 HP:0002645 Wormian bones OMIM:259420 COL1A2 1278 HP:0002757 Recurrent fractures OMIM:259420 COL1A2 1278 HP:0002691 Platybasia OMIM:259420 COL1A2 1278 HP:0000765 Abnormality of the thorax OMIM:259420 COL1A2 1278 HP:0000703 Dentinogenesis imperfecta OMIM:259420 COL1A2 1278 HP:0005897 Severe generalized osteoporosis OMIM:259420 COL1A2 1278 HP:0002650 Scoliosis OMIM:259420 COL1A2 1278 HP:0000260 Wide anterior fontanel OMIM:259420 COL1A2 1278 HP:0002007 Frontal bossing OMIM:259420 COL1A2 1278 HP:0000007 Autosomal recessive inheritance OMIM:259420 COL1A2 1278 HP:0002982 Tibial bowing OMIM:259420 COL1A2 1278 HP:0004586 Biconcave vertebral bodies OMIM:259420 COL1A2 1278 HP:0005855 Multiple prenatal fractures OMIM:259420 COL1A2 1278 HP:0000592 Blue sclerae OMIM:259420 COL1A2 1278 HP:0000707 Abnormality of the nervous system OMIM:259420 COL1A2 1278 HP:0000365 Hearing impairment OMIM:259420 COL1A2 1278 HP:0000006 Autosomal dominant inheritance OMIM:259420 COL1A2 1278 HP:0008921 Neonatal short-limb short stature OMIM:259420 COL1A2 1278 HP:0003100 Slender long bone OMIM:259420 COL1A2 1278 HP:0005474 Decreased calvarial ossification OMIM:259420 COL1A2 1278 HP:0002092 Pulmonary hypertension OMIM:259420 COL1A2 1278 HP:0000347 Micrognathia OMIM:259420 COL1A1 1277 HP:0002808 Kyphosis OMIM:259420 COL1A1 1277 HP:0003179 Protrusio acetabuli OMIM:259420 COL1A1 1277 HP:0003023 Bowing of limbs due to multiple fractures OMIM:259420 COL1A1 1277 HP:0005758 Basilar impression OMIM:259420 COL1A1 1277 HP:0000325 Triangular face OMIM:259420 COL1A1 1277 HP:0002645 Wormian bones OMIM:259420 COL1A1 1277 HP:0002757 Recurrent fractures OMIM:259420 COL1A1 1277 HP:0002691 Platybasia OMIM:259420 COL1A1 1277 HP:0000765 Abnormality of the thorax OMIM:259420 COL1A1 1277 HP:0000703 Dentinogenesis imperfecta OMIM:259420 COL1A1 1277 HP:0005897 Severe generalized osteoporosis OMIM:259420 COL1A1 1277 HP:0002650 Scoliosis OMIM:259420 COL1A1 1277 HP:0000260 Wide anterior fontanel OMIM:259420 COL1A1 1277 HP:0002007 Frontal bossing OMIM:259420 COL1A1 1277 HP:0000007 Autosomal recessive inheritance OMIM:259420 COL1A1 1277 HP:0002982 Tibial bowing OMIM:259420 COL1A1 1277 HP:0004586 Biconcave vertebral bodies OMIM:259420 COL1A1 1277 HP:0005855 Multiple prenatal fractures OMIM:259420 COL1A1 1277 HP:0000592 Blue sclerae OMIM:259420 COL1A1 1277 HP:0000707 Abnormality of the nervous system OMIM:259420 COL1A1 1277 HP:0000365 Hearing impairment OMIM:259420 COL1A1 1277 HP:0000006 Autosomal dominant inheritance OMIM:259420 COL1A1 1277 HP:0008921 Neonatal short-limb short stature OMIM:259420 COL1A1 1277 HP:0003100 Slender long bone OMIM:259420 COL1A1 1277 HP:0005474 Decreased calvarial ossification OMIM:259420 COL1A1 1277 HP:0002092 Pulmonary hypertension OMIM:259420 COL1A1 1277 HP:0000347 Micrognathia OMIM:611307 ANO5 203859 HP:0003828 Variable expressivity OMIM:611307 ANO5 203859 HP:0003676 Progressive disorder OMIM:611307 ANO5 203859 HP:0003701 Proximal muscle weakness OMIM:611307 ANO5 203859 HP:0010628 Facial palsy OMIM:611307 ANO5 203859 HP:0003749 Pelvic girdle muscle weakness OMIM:611307 ANO5 203859 HP:0000007 Autosomal recessive inheritance OMIM:611307 ANO5 203859 HP:0003560 Muscular dystrophy OMIM:611307 ANO5 203859 HP:0003326 Myalgia OMIM:611307 ANO5 203859 HP:0008981 Calf muscle hypertrophy OMIM:611307 ANO5 203859 HP:0003547 Shoulder girdle muscle weakness OMIM:611307 ANO5 203859 HP:0003458 EMG: myopathic abnormalities OMIM:611307 ANO5 203859 HP:0003236 Elevated serum creatine phosphokinase OMIM:222765 GNPAT 8443 HP:0001508 Failure to thrive OMIM:222765 GNPAT 8443 HP:0001371 Flexion contracture OMIM:222765 GNPAT 8443 HP:0000463 Anteverted nares OMIM:222765 GNPAT 8443 HP:0000518 Cataract OMIM:222765 GNPAT 8443 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:222765 GNPAT 8443 HP:0001249 Intellectual disability OMIM:222765 GNPAT 8443 HP:0000431 Wide nasal bridge OMIM:222765 GNPAT 8443 HP:0008838 Stippled calcification proximal humeral epiphyses OMIM:222765 GNPAT 8443 HP:0003301 Irregular vertebral endplates OMIM:222765 GNPAT 8443 HP:0002832 Calcific stippling OMIM:222765 GNPAT 8443 HP:0005280 Depressed nasal bridge OMIM:222765 GNPAT 8443 HP:0000347 Micrognathia OMIM:222765 GNPAT 8443 HP:0000938 Osteopenia OMIM:222765 GNPAT 8443 HP:0002650 Scoliosis OMIM:222765 GNPAT 8443 HP:0000218 High palate OMIM:222765 GNPAT 8443 HP:0005792 Short humerus OMIM:222765 GNPAT 8443 HP:0008905 Rhizomelia OMIM:222765 GNPAT 8443 HP:0001252 Muscular hypotonia OMIM:222765 GNPAT 8443 HP:0000252 Microcephaly OMIM:222765 GNPAT 8443 HP:0000007 Autosomal recessive inheritance OMIM:222765 GNPAT 8443 HP:0000348 High forehead OMIM:222765 GNPAT 8443 HP:0000239 Large fontanelles OMIM:158300 MYH8 4626 HP:0002804 Arthrogryposis multiplex congenita OMIM:158300 MYH8 4626 HP:0000324 Facial asymmetry OMIM:158300 MYH8 4626 HP:0011968 Feeding difficulties OMIM:158300 MYH8 4626 HP:0000508 Ptosis OMIM:158300 MYH8 4626 HP:0004322 Short stature OMIM:158300 MYH8 4626 HP:0003011 Abnormality of the musculature OMIM:158300 MYH8 4626 HP:0000211 Trismus OMIM:158300 MYH8 4626 HP:0000347 Micrognathia OMIM:158300 MYH8 4626 HP:0010621 Cutaneous syndactyly of toes OMIM:158300 MYH8 4626 HP:0000303 Mandibular prognathia OMIM:158300 MYH8 4626 HP:0002827 Hip dislocation OMIM:158300 MYH8 4626 HP:0000006 Autosomal dominant inheritance OMIM:158300 MYH8 4626 HP:0005684 Distal arthrogryposis OMIM:158300 MYH8 4626 HP:0003272 Abnormality of the hip bone OMIM:158300 MYH8 4626 HP:0000256 Macrocephaly OMIM:158300 MYH8 4626 HP:0001376 Limitation of joint mobility OMIM:158300 MYH8 4626 HP:0009773 Symphalangism affecting the phalanges of the hand OMIM:158300 MYH8 4626 HP:0002015 Dysphagia OMIM:158300 MYH8 4626 HP:0002002 Deep philtrum OMIM:158300 MYH8 4626 HP:0001762 Talipes equinovarus OMIM:158300 MYH8 4626 HP:0001765 Hammertoe OMIM:158300 MYH8 4626 HP:0001840 Metatarsus adductus OMIM:158000 KRT81 3887 HP:0002213 Fine hair OMIM:158000 KRT81 3887 HP:0000164 Abnormality of the teeth OMIM:158000 KRT81 3887 HP:0000962 Hyperkeratosis OMIM:158000 KRT81 3887 HP:0000708 Behavioral abnormality OMIM:158000 KRT81 3887 HP:0002164 Nail dysplasia OMIM:158000 KRT81 3887 HP:0000006 Autosomal dominant inheritance OMIM:158000 KRT81 3887 HP:0001006 Hypotrichosis OMIM:158000 KRT81 3887 HP:0000518 Cataract OMIM:158000 KRT81 3887 HP:0001250 Seizures OMIM:158000 KRT81 3887 HP:0100543 Cognitive impairment OMIM:158000 KRT81 3887 HP:0001596 Alopecia OMIM:158000 KRT81 3887 HP:0008404 Nail dystrophy OMIM:158000 KRT81 3887 HP:0007468 Perifollicular hyperkeratosis OMIM:158000 KRT81 3887 HP:0002217 Slow-growing hair OMIM:158000 KRT81 3887 HP:0003828 Variable expressivity OMIM:158000 KRT81 3887 HP:0000534 Abnormality of the eyebrow OMIM:158000 KRT81 3887 HP:0001939 Abnormality of metabolism/homeostasis OMIM:158000 KRT81 3887 HP:0003593 Infantile onset OMIM:158000 KRT81 3887 HP:0002299 Brittle hair OMIM:158000 KRT86 3892 HP:0002213 Fine hair OMIM:158000 KRT86 3892 HP:0000164 Abnormality of the teeth OMIM:158000 KRT86 3892 HP:0000962 Hyperkeratosis OMIM:158000 KRT86 3892 HP:0000708 Behavioral abnormality OMIM:158000 KRT86 3892 HP:0002164 Nail dysplasia OMIM:158000 KRT86 3892 HP:0000006 Autosomal dominant inheritance OMIM:158000 KRT86 3892 HP:0001006 Hypotrichosis OMIM:158000 KRT86 3892 HP:0000518 Cataract OMIM:158000 KRT86 3892 HP:0001250 Seizures OMIM:158000 KRT86 3892 HP:0100543 Cognitive impairment OMIM:158000 KRT86 3892 HP:0001596 Alopecia OMIM:158000 KRT86 3892 HP:0008404 Nail dystrophy OMIM:158000 KRT86 3892 HP:0007468 Perifollicular hyperkeratosis OMIM:158000 KRT86 3892 HP:0002217 Slow-growing hair OMIM:158000 KRT86 3892 HP:0003828 Variable expressivity OMIM:158000 KRT86 3892 HP:0000534 Abnormality of the eyebrow OMIM:158000 KRT86 3892 HP:0001939 Abnormality of metabolism/homeostasis OMIM:158000 KRT86 3892 HP:0003593 Infantile onset OMIM:158000 KRT86 3892 HP:0002299 Brittle hair OMIM:158000 KRT83 3889 HP:0002213 Fine hair OMIM:158000 KRT83 3889 HP:0000164 Abnormality of the teeth OMIM:158000 KRT83 3889 HP:0000962 Hyperkeratosis OMIM:158000 KRT83 3889 HP:0000708 Behavioral abnormality OMIM:158000 KRT83 3889 HP:0002164 Nail dysplasia OMIM:158000 KRT83 3889 HP:0000006 Autosomal dominant inheritance OMIM:158000 KRT83 3889 HP:0001006 Hypotrichosis OMIM:158000 KRT83 3889 HP:0000518 Cataract OMIM:158000 KRT83 3889 HP:0001250 Seizures OMIM:158000 KRT83 3889 HP:0100543 Cognitive impairment OMIM:158000 KRT83 3889 HP:0001596 Alopecia OMIM:158000 KRT83 3889 HP:0008404 Nail dystrophy OMIM:158000 KRT83 3889 HP:0007468 Perifollicular hyperkeratosis OMIM:158000 KRT83 3889 HP:0002217 Slow-growing hair OMIM:158000 KRT83 3889 HP:0003828 Variable expressivity OMIM:158000 KRT83 3889 HP:0000534 Abnormality of the eyebrow OMIM:158000 KRT83 3889 HP:0001939 Abnormality of metabolism/homeostasis OMIM:158000 KRT83 3889 HP:0003593 Infantile onset OMIM:158000 KRT83 3889 HP:0002299 Brittle hair OMIM:615807 DNA2 1763 HP:0001263 Global developmental delay OMIM:615807 DNA2 1763 HP:0002751 Kyphoscoliosis OMIM:615807 DNA2 1763 HP:0001249 Intellectual disability OMIM:615807 DNA2 1763 HP:0000086 Ectopic kidney OMIM:615807 DNA2 1763 HP:0002176 Spinal cord compression OMIM:615807 DNA2 1763 HP:0000444 Convex nasal ridge OMIM:615807 DNA2 1763 HP:0004322 Short stature OMIM:615807 DNA2 1763 HP:0000347 Micrognathia OMIM:615807 DNA2 1763 HP:0000252 Microcephaly OMIM:616037 CCDC151 115948 HP:0002099 Asthma OMIM:616037 CCDC151 115948 HP:0000403 Recurrent otitis media OMIM:616037 CCDC151 115948 HP:0012265 Ciliary dyskinesia OMIM:616037 CCDC151 115948 HP:0002110 Bronchiectasis OMIM:616037 CCDC151 115948 HP:0200073 Respiratory insufficiency due to defective ciliary clearance OMIM:616037 CCDC151 115948 HP:0012735 Cough OMIM:616037 CCDC151 115948 HP:0004469 Chronic bronchitis OMIM:616037 CCDC151 115948 HP:0001696 Situs inversus totalis OMIM:616037 CCDC151 115948 HP:0100582 Nasal polyposis OMIM:301200 AMELX 265 HP:0000705 Amelogenesis imperfecta OMIM:301200 AMELX 265 HP:0006297 Hypoplasia of dental enamel OMIM:301200 AMELX 265 HP:0001423 X-linked dominant inheritance OMIM:301200 AMELX 265 HP:0200095 Anterior open bite OMIM:301200 AMELX 265 HP:0003812 Phenotypic variability OMIM:301200 AMELX 265 HP:0000691 Microdontia OMIM:301200 AMELX 265 HP:0001939 Abnormality of metabolism/homeostasis OMIM:212840 RNF216 54476 HP:0000789 Infertility OMIM:212840 RNF216 54476 HP:0002059 Cerebral atrophy OMIM:212840 RNF216 54476 HP:0000044 Hypogonadotrophic hypogonadism OMIM:212840 RNF216 54476 HP:0001251 Ataxia OMIM:212840 RNF216 54476 HP:0001939 Abnormality of metabolism/homeostasis OMIM:212840 RNF216 54476 HP:0001260 Dysarthria OMIM:212840 RNF216 54476 HP:0001272 Cerebellar atrophy OMIM:212840 RNF216 54476 HP:0001135 Chorioretinal dystrophy OMIM:212840 RNF216 54476 HP:0000876 Oligomenorrhea OMIM:212840 RNF216 54476 HP:0000924 Abnormality of the skeletal system OMIM:212840 RNF216 54476 HP:0000726 Dementia OMIM:212840 RNF216 54476 HP:0000007 Autosomal recessive inheritance OMIM:614860 CACNA1B 774 HP:0001336 Myoclonus OMIM:614860 CACNA1B 774 HP:0001272 Cerebellar atrophy OMIM:614860 CACNA1B 774 HP:0003581 Adult onset OMIM:614860 CACNA1B 774 HP:0001288 Gait disturbance OMIM:614860 CACNA1B 774 HP:0002530 Axial dystonia OMIM:614860 CACNA1B 774 HP:0002120 Cerebral cortical atrophy OMIM:614860 CACNA1B 774 HP:0000473 Torticollis OMIM:614860 CACNA1B 774 HP:0001618 Dysphonia OMIM:614860 CACNA1B 774 HP:0002356 Writer's cramp OMIM:614860 CACNA1B 774 HP:0000006 Autosomal dominant inheritance OMIM:614860 CACNA1B 774 HP:0002346 Head tremor OMIM:614860 CACNA1B 774 HP:0011675 Arrhythmia OMIM:614860 CACNA1B 774 HP:0002451 Limb dystonia OMIM:174700 GLI3 2737 HP:0010713 1-5 toe syndactyly OMIM:174700 GLI3 2737 HP:0000363 Abnormality of earlobe OMIM:174700 GLI3 2737 HP:0100258 Preaxial polydactyly OMIM:174700 GLI3 2737 HP:0006097 3-4 finger syndactyly OMIM:174700 GLI3 2737 HP:0005688 Dysplastic distal thumb phalanges with a central hole OMIM:174700 GLI3 2737 HP:0000006 Autosomal dominant inheritance OMIM:118220 PMP22 5376 HP:0003828 Variable expressivity OMIM:118220 PMP22 5376 HP:0003587 Insidious onset OMIM:118220 PMP22 5376 HP:0003376 Steppage gait OMIM:118220 PMP22 5376 HP:0001425 Heterogeneous OMIM:118220 PMP22 5376 HP:0002460 Distal muscle weakness OMIM:118220 PMP22 5376 HP:0001765 Hammertoe OMIM:118220 PMP22 5376 HP:0004336 Myelin outfoldings OMIM:118220 PMP22 5376 HP:0000365 Hearing impairment OMIM:118220 PMP22 5376 HP:0009027 Foot dorsiflexor weakness OMIM:118220 PMP22 5376 HP:0001761 Pes cavus OMIM:118220 PMP22 5376 HP:0003382 Hypertrophic nerve changes OMIM:118220 PMP22 5376 HP:0001178 Ulnar claw OMIM:118220 PMP22 5376 HP:0001265 Hyporeflexia OMIM:118220 PMP22 5376 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:118220 PMP22 5376 HP:0003621 Juvenile onset OMIM:118220 PMP22 5376 HP:0000006 Autosomal dominant inheritance OMIM:118220 PMP22 5376 HP:0003677 Slow progression OMIM:118220 PMP22 5376 HP:0003383 Onion bulb formation OMIM:118220 PMP22 5376 HP:0001284 Areflexia OMIM:118220 PMP22 5376 HP:0003693 Distal amyotrophy OMIM:118220 PMP22 5376 HP:0002936 Distal sensory impairment OMIM:118220 PMP22 5376 HP:0003481 Segmental peripheral demyelination/remyelination OMIM:118220 PMP22 5376 HP:0002751 Kyphoscoliosis OMIM:118220 PMP22 5376 HP:0003449 Cold-induced muscle cramps OMIM:118220 PMP22 5376 HP:0003431 Decreased motor nerve conduction velocity OMIM:616227 ALG14 199857 HP:0000508 Ptosis OMIM:616227 ALG14 199857 HP:0002828 Multiple joint contractures OMIM:616227 ALG14 199857 HP:0002359 Frequent falls OMIM:616227 ALG14 199857 HP:0000007 Autosomal recessive inheritance OMIM:616227 ALG14 199857 HP:0003403 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation OMIM:616227 ALG14 199857 HP:0003473 Fatigable weakness OMIM:616227 ALG14 199857 HP:0030205 Increased jitter at single fibre EMG OMIM:611943 RNF168 165918 HP:0011342 Mild global developmental delay OMIM:611943 RNF168 165918 HP:0004315 IgG deficiency OMIM:611943 RNF168 165918 HP:0011133 Increased sensitivity to ionizing radiation OMIM:611943 RNF168 165918 HP:0000958 Dry skin OMIM:611943 RNF168 165918 HP:0002721 Immunodeficiency OMIM:611943 RNF168 165918 HP:0002206 Pulmonary fibrosis OMIM:611943 RNF168 165918 HP:0000007 Autosomal recessive inheritance OMIM:611943 RNF168 165918 HP:0001999 Abnormal facial shape OMIM:611943 RNF168 165918 HP:0001251 Ataxia OMIM:611943 RNF168 165918 HP:0004322 Short stature OMIM:611943 RNF168 165918 HP:0000252 Microcephaly OMIM:613830 SLC24A1 9187 HP:0007642 Congenital stationary night blindness OMIM:613830 SLC24A1 9187 HP:0000007 Autosomal recessive inheritance OMIM:613641 KARS 3735 HP:0001263 Global developmental delay OMIM:613641 KARS 3735 HP:0001265 Hyporeflexia OMIM:613641 KARS 3735 HP:0000007 Autosomal recessive inheritance OMIM:613641 KARS 3735 HP:0009027 Foot dorsiflexor weakness OMIM:613641 KARS 3735 HP:0009588 Vestibular Schwannoma OMIM:613641 KARS 3735 HP:0002936 Distal sensory impairment OMIM:613641 KARS 3735 HP:0003376 Steppage gait OMIM:613641 KARS 3735 HP:0001761 Pes cavus OMIM:613641 KARS 3735 HP:0001284 Areflexia OMIM:168500 MSX2 4488 HP:0002697 Parietal foramina OMIM:168500 MSX2 4488 HP:0002084 Encephalocele OMIM:168500 MSX2 4488 HP:0001250 Seizures OMIM:168500 MSX2 4488 HP:0000175 Cleft palate OMIM:168500 MSX2 4488 HP:0007385 Aplasia cutis congenita of scalp OMIM:168500 MSX2 4488 HP:0000006 Autosomal dominant inheritance OMIM:168500 MSX2 4488 HP:0002315 Headache OMIM:168500 MSX2 4488 HP:0002695 Symmetrical, oval parietal bone defects OMIM:168500 MSX2 4488 HP:0001425 Heterogeneous OMIM:168500 MSX2 4488 HP:0000204 Cleft upper lip OMIM:607706 GDAP1 54332 HP:0003623 Neonatal onset OMIM:607706 GDAP1 54332 HP:0002460 Distal muscle weakness OMIM:607706 GDAP1 54332 HP:0002936 Distal sensory impairment OMIM:607706 GDAP1 54332 HP:0001171 Split hand OMIM:607706 GDAP1 54332 HP:0003383 Onion bulb formation OMIM:607706 GDAP1 54332 HP:0003431 Decreased motor nerve conduction velocity OMIM:607706 GDAP1 54332 HP:0003693 Distal amyotrophy OMIM:607706 GDAP1 54332 HP:0001604 Vocal cord paresis OMIM:607706 GDAP1 54332 HP:0000007 Autosomal recessive inheritance OMIM:607706 GDAP1 54332 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:607706 GDAP1 54332 HP:0008443 Spinal deformities OMIM:607706 GDAP1 54332 HP:0001761 Pes cavus OMIM:607706 GDAP1 54332 HP:0003378 Axonal degeneration/regeneration OMIM:607706 GDAP1 54332 HP:0001284 Areflexia OMIM:607706 GDAP1 54332 HP:0001371 Flexion contracture OMIM:614097 CAT 847 HP:0000155 Oral ulcer OMIM:614097 CAT 847 HP:0000007 Autosomal recessive inheritance OMIM:614097 CAT 847 HP:0012517 Reduced catalase activity OMIM:604484 TFG 10342 HP:0002445 Tetraplegia OMIM:604484 TFG 10342 HP:0003701 Proximal muscle weakness OMIM:604484 TFG 10342 HP:0002171 Gliosis OMIM:604484 TFG 10342 HP:0002936 Distal sensory impairment OMIM:604484 TFG 10342 HP:0002380 Fasciculations OMIM:604484 TFG 10342 HP:0002398 Degeneration of anterior horn cells OMIM:604484 TFG 10342 HP:0008180 Mildly elevated creatine phosphokinase OMIM:604484 TFG 10342 HP:0007126 Proximal amyotrophy OMIM:604484 TFG 10342 HP:0009830 Peripheral neuropathy OMIM:604484 TFG 10342 HP:0003077 Hyperlipidemia OMIM:604484 TFG 10342 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:604484 TFG 10342 HP:0000006 Autosomal dominant inheritance OMIM:604484 TFG 10342 HP:0003581 Adult onset OMIM:604484 TFG 10342 HP:0002378 Hand tremor OMIM:604484 TFG 10342 HP:0003677 Slow progression OMIM:604484 TFG 10342 HP:0001288 Gait disturbance OMIM:615540 SYNE4 163183 HP:0000007 Autosomal recessive inheritance OMIM:615540 SYNE4 163183 HP:0000408 Progressive sensorineural hearing impairment OMIM:603284 CCM2 83605 HP:0001297 Stroke OMIM:603284 CCM2 83605 HP:0001250 Seizures OMIM:603284 CCM2 83605 HP:0001009 Telangiectasia OMIM:603284 CCM2 83605 HP:0000006 Autosomal dominant inheritance OMIM:603284 CCM2 83605 HP:0002315 Headache OMIM:616108 RDH11 51109 HP:0000582 Upslanted palpebral fissure OMIM:616108 RDH11 51109 HP:0001263 Global developmental delay OMIM:616108 RDH11 51109 HP:0000687 Widely spaced teeth OMIM:616108 RDH11 51109 HP:0004322 Short stature OMIM:616108 RDH11 51109 HP:0000689 Dental malocclusion OMIM:616108 RDH11 51109 HP:0000272 Malar flattening OMIM:616108 RDH11 51109 HP:0000556 Retinal dystrophy OMIM:610003 CLN8 2055 HP:0003205 Curvilinear intracellular accumulation of autofluorescent lipopigment storage material OMIM:610003 CLN8 2055 HP:0001250 Seizures OMIM:610003 CLN8 2055 HP:0000711 Restlessness OMIM:610003 CLN8 2055 HP:0002353 EEG abnormality OMIM:610003 CLN8 2055 HP:0000737 Irritability OMIM:610003 CLN8 2055 HP:0002059 Cerebral atrophy OMIM:610003 CLN8 2055 HP:0002384 Focal seizures with impairment of consciousness or awareness OMIM:610003 CLN8 2055 HP:0001268 Mental deterioration OMIM:610003 CLN8 2055 HP:0000505 Visual impairment OMIM:610003 CLN8 2055 HP:0001249 Intellectual disability OMIM:610003 CLN8 2055 HP:0001272 Cerebellar atrophy OMIM:610003 CLN8 2055 HP:0002312 Clumsiness OMIM:610003 CLN8 2055 HP:0002069 Generalized tonic-clonic seizures OMIM:610003 CLN8 2055 HP:0002074 Increased neuronal autofluorescent lipopigment OMIM:610003 CLN8 2055 HP:0003677 Slow progression OMIM:610003 CLN8 2055 HP:0000007 Autosomal recessive inheritance OMIM:611812 WNT4 54361 HP:0012245 Sex reversal OMIM:611812 WNT4 54361 HP:0011743 Adrenal gland agenesis OMIM:611812 WNT4 54361 HP:0000104 Renal agenesis OMIM:611812 WNT4 54361 HP:0000007 Autosomal recessive inheritance OMIM:611812 WNT4 54361 HP:0005944 Bilateral lung agenesis OMIM:612098 ACTC1 70 HP:0011675 Arrhythmia OMIM:612098 ACTC1 70 HP:0001639 Hypertrophic cardiomyopathy OMIM:612098 ACTC1 70 HP:0000006 Autosomal dominant inheritance OMIM:613402 PNKP 11284 HP:0000253 Progressive microcephaly OMIM:613402 PNKP 11284 HP:0001251 Ataxia OMIM:613402 PNKP 11284 HP:0000007 Autosomal recessive inheritance OMIM:613402 PNKP 11284 HP:0003202 Skeletal muscle atrophy OMIM:613402 PNKP 11284 HP:0001265 Hyporeflexia OMIM:613402 PNKP 11284 HP:0002079 Hypoplasia of the corpus callosum OMIM:613402 PNKP 11284 HP:0010864 Intellectual disability, severe OMIM:613402 PNKP 11284 HP:0001270 Motor delay OMIM:613402 PNKP 11284 HP:0200134 Epileptic encephalopathy OMIM:613402 PNKP 11284 HP:0002119 Ventriculomegaly OMIM:613402 PNKP 11284 HP:0009879 Cortical gyral simplification OMIM:613402 PNKP 11284 HP:0000752 Hyperactivity OMIM:613402 PNKP 11284 HP:0001252 Muscular hypotonia OMIM:230600 GLB1 2720 HP:0007272 Progressive psychomotor deterioration OMIM:230600 GLB1 2720 HP:0001392 Abnormality of the liver OMIM:230600 GLB1 2720 HP:0008166 Decreased beta-galactosidase activity OMIM:230600 GLB1 2720 HP:0002673 Coxa valga OMIM:230600 GLB1 2720 HP:0001982 Sea-blue histiocytosis OMIM:230600 GLB1 2720 HP:0000271 Abnormality of the face OMIM:230600 GLB1 2720 HP:0000007 Autosomal recessive inheritance OMIM:230600 GLB1 2720 HP:0001743 Abnormality of the spleen OMIM:230600 GLB1 2720 HP:0000648 Optic atrophy OMIM:230600 GLB1 2720 HP:0002123 Generalized myoclonic seizures OMIM:230600 GLB1 2720 HP:0002510 Spastic tetraplegia OMIM:230600 GLB1 2720 HP:0000926 Platyspondyly OMIM:230600 GLB1 2720 HP:0001251 Ataxia OMIM:230600 GLB1 2720 HP:0002059 Cerebral atrophy OMIM:230600 GLB1 2720 HP:0007281 Developmental stagnation OMIM:230600 GLB1 2720 HP:0001288 Gait disturbance OMIM:230600 GLB1 2720 HP:0002119 Ventriculomegaly OMIM:612782 ORAI1 84876 HP:0003391 Gowers sign OMIM:612782 ORAI1 84876 HP:0001508 Failure to thrive OMIM:612782 ORAI1 84876 HP:0002355 Difficulty walking OMIM:612782 ORAI1 84876 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:612782 ORAI1 84876 HP:0001954 Episodic fever OMIM:612782 ORAI1 84876 HP:0002719 Recurrent infections OMIM:612782 ORAI1 84876 HP:0002046 Heat intolerance OMIM:612782 ORAI1 84876 HP:0003198 Myopathy OMIM:612782 ORAI1 84876 HP:0000007 Autosomal recessive inheritance OMIM:612782 ORAI1 84876 HP:0002721 Immunodeficiency OMIM:612782 ORAI1 84876 HP:0011107 Recurrent aphthous stomatitis OMIM:612782 ORAI1 84876 HP:0001252 Muscular hypotonia OMIM:612782 ORAI1 84876 HP:0000968 Ectodermal dysplasia ORPHANET:564 TMEM216 51259 HP:0010459 True hermaphroditism ORPHANET:564 TMEM216 51259 HP:0000482 Microcornea ORPHANET:564 TMEM216 51259 HP:0100732 Pancreatic fibrosis ORPHANET:564 TMEM216 51259 HP:0001830 Postaxial foot polydactyly ORPHANET:564 TMEM216 51259 HP:0002323 Anencephaly ORPHANET:564 TMEM216 51259 HP:0000340 Sloping forehead ORPHANET:564 TMEM216 51259 HP:0000795 Abnormality of the urethra ORPHANET:564 TMEM216 51259 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:564 TMEM216 51259 HP:0000648 Optic atrophy ORPHANET:564 TMEM216 51259 HP:0006487 Bowing of the long bones ORPHANET:564 TMEM216 51259 HP:0001562 Oligohydramnios ORPHANET:564 TMEM216 51259 HP:0002084 Encephalocele ORPHANET:564 TMEM216 51259 HP:0000028 Cryptorchidism ORPHANET:564 TMEM216 51259 HP:0001883 Talipes ORPHANET:564 TMEM216 51259 HP:0000221 Furrowed tongue ORPHANET:564 TMEM216 51259 HP:0006706 Cystic liver disease ORPHANET:564 TMEM216 51259 HP:0000532 Chorioretinal abnormality ORPHANET:564 TMEM216 51259 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:564 TMEM216 51259 HP:0001696 Situs inversus totalis ORPHANET:564 TMEM216 51259 HP:0000037 Male pseudohermaphroditism ORPHANET:564 TMEM216 51259 HP:0000647 Sclerocornea ORPHANET:564 TMEM216 51259 HP:0001360 Holoprosencephaly ORPHANET:564 TMEM216 51259 HP:0000518 Cataract ORPHANET:564 TMEM216 51259 HP:0001305 Dandy-Walker malformation ORPHANET:564 TMEM216 51259 HP:0010295 Aplasia/Hypoplasia of the tongue ORPHANET:564 TMEM216 51259 HP:0000293 Full cheeks ORPHANET:564 TMEM216 51259 HP:0000457 Depressed nasal ridge ORPHANET:564 TMEM216 51259 HP:0000316 Hypertelorism ORPHANET:564 TMEM216 51259 HP:0000252 Microcephaly ORPHANET:564 TMEM216 51259 HP:0001743 Abnormality of the spleen ORPHANET:564 TMEM216 51259 HP:0001737 Pancreatic cysts ORPHANET:564 TMEM216 51259 HP:0001162 Postaxial hand polydactyly ORPHANET:564 TMEM216 51259 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:564 TMEM216 51259 HP:0001177 Preaxial hand polydactyly ORPHANET:564 TMEM216 51259 HP:0000003 Multicystic kidney dysplasia ORPHANET:564 TMEM216 51259 HP:0000238 Hydrocephalus ORPHANET:564 TMEM216 51259 HP:0000175 Cleft palate ORPHANET:564 TMEM216 51259 HP:0002612 Congenital hepatic fibrosis ORPHANET:564 TMEM216 51259 HP:0000347 Micrognathia ORPHANET:564 WDPCP 51057 HP:0010459 True hermaphroditism ORPHANET:564 WDPCP 51057 HP:0000482 Microcornea ORPHANET:564 WDPCP 51057 HP:0100732 Pancreatic fibrosis ORPHANET:564 WDPCP 51057 HP:0001830 Postaxial foot polydactyly ORPHANET:564 WDPCP 51057 HP:0002323 Anencephaly ORPHANET:564 WDPCP 51057 HP:0000340 Sloping forehead ORPHANET:564 WDPCP 51057 HP:0000795 Abnormality of the urethra ORPHANET:564 WDPCP 51057 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:564 WDPCP 51057 HP:0000648 Optic atrophy ORPHANET:564 WDPCP 51057 HP:0006487 Bowing of the long bones ORPHANET:564 WDPCP 51057 HP:0001562 Oligohydramnios ORPHANET:564 WDPCP 51057 HP:0002084 Encephalocele ORPHANET:564 WDPCP 51057 HP:0000028 Cryptorchidism ORPHANET:564 WDPCP 51057 HP:0001883 Talipes ORPHANET:564 WDPCP 51057 HP:0000221 Furrowed tongue ORPHANET:564 WDPCP 51057 HP:0006706 Cystic liver disease ORPHANET:564 WDPCP 51057 HP:0000532 Chorioretinal abnormality ORPHANET:564 WDPCP 51057 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:564 WDPCP 51057 HP:0001696 Situs inversus totalis ORPHANET:564 WDPCP 51057 HP:0000037 Male pseudohermaphroditism ORPHANET:564 WDPCP 51057 HP:0000647 Sclerocornea ORPHANET:564 WDPCP 51057 HP:0001360 Holoprosencephaly ORPHANET:564 WDPCP 51057 HP:0000518 Cataract ORPHANET:564 WDPCP 51057 HP:0001305 Dandy-Walker malformation ORPHANET:564 WDPCP 51057 HP:0010295 Aplasia/Hypoplasia of the tongue ORPHANET:564 WDPCP 51057 HP:0000293 Full cheeks ORPHANET:564 WDPCP 51057 HP:0000457 Depressed nasal ridge ORPHANET:564 WDPCP 51057 HP:0000316 Hypertelorism ORPHANET:564 WDPCP 51057 HP:0000252 Microcephaly ORPHANET:564 WDPCP 51057 HP:0001743 Abnormality of the spleen ORPHANET:564 WDPCP 51057 HP:0001737 Pancreatic cysts ORPHANET:564 WDPCP 51057 HP:0001162 Postaxial hand polydactyly ORPHANET:564 WDPCP 51057 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:564 WDPCP 51057 HP:0001177 Preaxial hand polydactyly ORPHANET:564 WDPCP 51057 HP:0000003 Multicystic kidney dysplasia ORPHANET:564 WDPCP 51057 HP:0000238 Hydrocephalus ORPHANET:564 WDPCP 51057 HP:0000175 Cleft palate ORPHANET:564 WDPCP 51057 HP:0002612 Congenital hepatic fibrosis ORPHANET:564 WDPCP 51057 HP:0000347 Micrognathia ORPHANET:564 CC2D2A 57545 HP:0010459 True hermaphroditism ORPHANET:564 CC2D2A 57545 HP:0000482 Microcornea ORPHANET:564 CC2D2A 57545 HP:0100732 Pancreatic fibrosis ORPHANET:564 CC2D2A 57545 HP:0001830 Postaxial foot polydactyly ORPHANET:564 CC2D2A 57545 HP:0002323 Anencephaly ORPHANET:564 CC2D2A 57545 HP:0000340 Sloping forehead ORPHANET:564 CC2D2A 57545 HP:0000795 Abnormality of the urethra ORPHANET:564 CC2D2A 57545 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:564 CC2D2A 57545 HP:0000648 Optic atrophy ORPHANET:564 CC2D2A 57545 HP:0006487 Bowing of the long bones ORPHANET:564 CC2D2A 57545 HP:0001562 Oligohydramnios ORPHANET:564 CC2D2A 57545 HP:0002084 Encephalocele ORPHANET:564 CC2D2A 57545 HP:0000028 Cryptorchidism ORPHANET:564 CC2D2A 57545 HP:0001883 Talipes ORPHANET:564 CC2D2A 57545 HP:0000221 Furrowed tongue ORPHANET:564 CC2D2A 57545 HP:0006706 Cystic liver disease ORPHANET:564 CC2D2A 57545 HP:0000532 Chorioretinal abnormality ORPHANET:564 CC2D2A 57545 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:564 CC2D2A 57545 HP:0001696 Situs inversus totalis ORPHANET:564 CC2D2A 57545 HP:0000037 Male pseudohermaphroditism ORPHANET:564 CC2D2A 57545 HP:0000647 Sclerocornea ORPHANET:564 CC2D2A 57545 HP:0001360 Holoprosencephaly ORPHANET:564 CC2D2A 57545 HP:0000518 Cataract ORPHANET:564 CC2D2A 57545 HP:0001305 Dandy-Walker malformation ORPHANET:564 CC2D2A 57545 HP:0010295 Aplasia/Hypoplasia of the tongue ORPHANET:564 CC2D2A 57545 HP:0000293 Full cheeks ORPHANET:564 CC2D2A 57545 HP:0000457 Depressed nasal ridge ORPHANET:564 CC2D2A 57545 HP:0000316 Hypertelorism ORPHANET:564 CC2D2A 57545 HP:0000252 Microcephaly ORPHANET:564 CC2D2A 57545 HP:0001743 Abnormality of the spleen ORPHANET:564 CC2D2A 57545 HP:0001737 Pancreatic cysts ORPHANET:564 CC2D2A 57545 HP:0001162 Postaxial hand polydactyly ORPHANET:564 CC2D2A 57545 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:564 CC2D2A 57545 HP:0001177 Preaxial hand polydactyly ORPHANET:564 CC2D2A 57545 HP:0000003 Multicystic kidney dysplasia ORPHANET:564 CC2D2A 57545 HP:0000238 Hydrocephalus ORPHANET:564 CC2D2A 57545 HP:0000175 Cleft palate ORPHANET:564 CC2D2A 57545 HP:0002612 Congenital hepatic fibrosis ORPHANET:564 CC2D2A 57545 HP:0000347 Micrognathia ORPHANET:564 CSPP1 79848 HP:0010459 True hermaphroditism ORPHANET:564 CSPP1 79848 HP:0000482 Microcornea ORPHANET:564 CSPP1 79848 HP:0100732 Pancreatic fibrosis ORPHANET:564 CSPP1 79848 HP:0001830 Postaxial foot polydactyly ORPHANET:564 CSPP1 79848 HP:0002323 Anencephaly ORPHANET:564 CSPP1 79848 HP:0000340 Sloping forehead ORPHANET:564 CSPP1 79848 HP:0000795 Abnormality of the urethra ORPHANET:564 CSPP1 79848 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:564 CSPP1 79848 HP:0000648 Optic atrophy ORPHANET:564 CSPP1 79848 HP:0006487 Bowing of the long bones ORPHANET:564 CSPP1 79848 HP:0001562 Oligohydramnios ORPHANET:564 CSPP1 79848 HP:0002084 Encephalocele ORPHANET:564 CSPP1 79848 HP:0000028 Cryptorchidism ORPHANET:564 CSPP1 79848 HP:0001883 Talipes ORPHANET:564 CSPP1 79848 HP:0000221 Furrowed tongue ORPHANET:564 CSPP1 79848 HP:0006706 Cystic liver disease ORPHANET:564 CSPP1 79848 HP:0000532 Chorioretinal abnormality ORPHANET:564 CSPP1 79848 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:564 CSPP1 79848 HP:0001696 Situs inversus totalis ORPHANET:564 CSPP1 79848 HP:0000037 Male pseudohermaphroditism ORPHANET:564 CSPP1 79848 HP:0000647 Sclerocornea ORPHANET:564 CSPP1 79848 HP:0001360 Holoprosencephaly ORPHANET:564 CSPP1 79848 HP:0000518 Cataract ORPHANET:564 CSPP1 79848 HP:0001305 Dandy-Walker malformation ORPHANET:564 CSPP1 79848 HP:0010295 Aplasia/Hypoplasia of the tongue ORPHANET:564 CSPP1 79848 HP:0000293 Full cheeks ORPHANET:564 CSPP1 79848 HP:0000457 Depressed nasal ridge ORPHANET:564 CSPP1 79848 HP:0000316 Hypertelorism ORPHANET:564 CSPP1 79848 HP:0000252 Microcephaly ORPHANET:564 CSPP1 79848 HP:0001743 Abnormality of the spleen ORPHANET:564 CSPP1 79848 HP:0001737 Pancreatic cysts ORPHANET:564 CSPP1 79848 HP:0001162 Postaxial hand polydactyly ORPHANET:564 CSPP1 79848 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:564 CSPP1 79848 HP:0001177 Preaxial hand polydactyly ORPHANET:564 CSPP1 79848 HP:0000003 Multicystic kidney dysplasia ORPHANET:564 CSPP1 79848 HP:0000238 Hydrocephalus ORPHANET:564 CSPP1 79848 HP:0000175 Cleft palate ORPHANET:564 CSPP1 79848 HP:0002612 Congenital hepatic fibrosis ORPHANET:564 CSPP1 79848 HP:0000347 Micrognathia ORPHANET:564 RPGRIP1 57096 HP:0010459 True hermaphroditism ORPHANET:564 RPGRIP1 57096 HP:0000482 Microcornea ORPHANET:564 RPGRIP1 57096 HP:0100732 Pancreatic fibrosis ORPHANET:564 RPGRIP1 57096 HP:0001830 Postaxial foot polydactyly ORPHANET:564 RPGRIP1 57096 HP:0002323 Anencephaly ORPHANET:564 RPGRIP1 57096 HP:0000340 Sloping forehead ORPHANET:564 RPGRIP1 57096 HP:0000795 Abnormality of the urethra ORPHANET:564 RPGRIP1 57096 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:564 RPGRIP1 57096 HP:0000648 Optic atrophy ORPHANET:564 RPGRIP1 57096 HP:0006487 Bowing of the long bones ORPHANET:564 RPGRIP1 57096 HP:0001562 Oligohydramnios ORPHANET:564 RPGRIP1 57096 HP:0002084 Encephalocele ORPHANET:564 RPGRIP1 57096 HP:0000028 Cryptorchidism ORPHANET:564 RPGRIP1 57096 HP:0001883 Talipes ORPHANET:564 RPGRIP1 57096 HP:0000221 Furrowed tongue ORPHANET:564 RPGRIP1 57096 HP:0006706 Cystic liver disease ORPHANET:564 RPGRIP1 57096 HP:0000532 Chorioretinal abnormality ORPHANET:564 RPGRIP1 57096 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:564 RPGRIP1 57096 HP:0001696 Situs inversus totalis ORPHANET:564 RPGRIP1 57096 HP:0000037 Male pseudohermaphroditism ORPHANET:564 RPGRIP1 57096 HP:0000647 Sclerocornea ORPHANET:564 RPGRIP1 57096 HP:0001360 Holoprosencephaly ORPHANET:564 RPGRIP1 57096 HP:0000518 Cataract ORPHANET:564 RPGRIP1 57096 HP:0001305 Dandy-Walker malformation ORPHANET:564 RPGRIP1 57096 HP:0010295 Aplasia/Hypoplasia of the tongue ORPHANET:564 RPGRIP1 57096 HP:0000293 Full cheeks ORPHANET:564 RPGRIP1 57096 HP:0000457 Depressed nasal ridge ORPHANET:564 RPGRIP1 57096 HP:0000316 Hypertelorism ORPHANET:564 RPGRIP1 57096 HP:0000252 Microcephaly ORPHANET:564 RPGRIP1 57096 HP:0001743 Abnormality of the spleen ORPHANET:564 RPGRIP1 57096 HP:0001737 Pancreatic cysts ORPHANET:564 RPGRIP1 57096 HP:0001162 Postaxial hand polydactyly ORPHANET:564 RPGRIP1 57096 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:564 RPGRIP1 57096 HP:0001177 Preaxial hand polydactyly ORPHANET:564 RPGRIP1 57096 HP:0000003 Multicystic kidney dysplasia ORPHANET:564 RPGRIP1 57096 HP:0000238 Hydrocephalus ORPHANET:564 RPGRIP1 57096 HP:0000175 Cleft palate ORPHANET:564 RPGRIP1 57096 HP:0002612 Congenital hepatic fibrosis ORPHANET:564 RPGRIP1 57096 HP:0000347 Micrognathia ORPHANET:564 CEP290 80184 HP:0010459 True hermaphroditism ORPHANET:564 CEP290 80184 HP:0000482 Microcornea ORPHANET:564 CEP290 80184 HP:0100732 Pancreatic fibrosis ORPHANET:564 CEP290 80184 HP:0001830 Postaxial foot polydactyly ORPHANET:564 CEP290 80184 HP:0002323 Anencephaly ORPHANET:564 CEP290 80184 HP:0000340 Sloping forehead ORPHANET:564 CEP290 80184 HP:0000795 Abnormality of the urethra ORPHANET:564 CEP290 80184 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:564 CEP290 80184 HP:0000648 Optic atrophy ORPHANET:564 CEP290 80184 HP:0006487 Bowing of the long bones ORPHANET:564 CEP290 80184 HP:0001562 Oligohydramnios ORPHANET:564 CEP290 80184 HP:0002084 Encephalocele ORPHANET:564 CEP290 80184 HP:0000028 Cryptorchidism ORPHANET:564 CEP290 80184 HP:0001883 Talipes ORPHANET:564 CEP290 80184 HP:0000221 Furrowed tongue ORPHANET:564 CEP290 80184 HP:0006706 Cystic liver disease ORPHANET:564 CEP290 80184 HP:0000532 Chorioretinal abnormality ORPHANET:564 CEP290 80184 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:564 CEP290 80184 HP:0001696 Situs inversus totalis ORPHANET:564 CEP290 80184 HP:0000037 Male pseudohermaphroditism ORPHANET:564 CEP290 80184 HP:0000647 Sclerocornea ORPHANET:564 CEP290 80184 HP:0001360 Holoprosencephaly ORPHANET:564 CEP290 80184 HP:0000518 Cataract ORPHANET:564 CEP290 80184 HP:0001305 Dandy-Walker malformation ORPHANET:564 CEP290 80184 HP:0010295 Aplasia/Hypoplasia of the tongue ORPHANET:564 CEP290 80184 HP:0000293 Full cheeks ORPHANET:564 CEP290 80184 HP:0000457 Depressed nasal ridge ORPHANET:564 CEP290 80184 HP:0000316 Hypertelorism ORPHANET:564 CEP290 80184 HP:0000252 Microcephaly ORPHANET:564 CEP290 80184 HP:0001743 Abnormality of the spleen ORPHANET:564 CEP290 80184 HP:0001737 Pancreatic cysts ORPHANET:564 CEP290 80184 HP:0001162 Postaxial hand polydactyly ORPHANET:564 CEP290 80184 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:564 CEP290 80184 HP:0001177 Preaxial hand polydactyly ORPHANET:564 CEP290 80184 HP:0000003 Multicystic kidney dysplasia ORPHANET:564 CEP290 80184 HP:0000238 Hydrocephalus ORPHANET:564 CEP290 80184 HP:0000175 Cleft palate ORPHANET:564 CEP290 80184 HP:0002612 Congenital hepatic fibrosis ORPHANET:564 CEP290 80184 HP:0000347 Micrognathia ORPHANET:564 B9D1 27077 HP:0010459 True hermaphroditism ORPHANET:564 B9D1 27077 HP:0000482 Microcornea ORPHANET:564 B9D1 27077 HP:0100732 Pancreatic fibrosis ORPHANET:564 B9D1 27077 HP:0001830 Postaxial foot polydactyly ORPHANET:564 B9D1 27077 HP:0002323 Anencephaly ORPHANET:564 B9D1 27077 HP:0000340 Sloping forehead ORPHANET:564 B9D1 27077 HP:0000795 Abnormality of the urethra ORPHANET:564 B9D1 27077 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:564 B9D1 27077 HP:0000648 Optic atrophy ORPHANET:564 B9D1 27077 HP:0006487 Bowing of the long bones ORPHANET:564 B9D1 27077 HP:0001562 Oligohydramnios ORPHANET:564 B9D1 27077 HP:0002084 Encephalocele ORPHANET:564 B9D1 27077 HP:0000028 Cryptorchidism ORPHANET:564 B9D1 27077 HP:0001883 Talipes ORPHANET:564 B9D1 27077 HP:0000221 Furrowed tongue ORPHANET:564 B9D1 27077 HP:0006706 Cystic liver disease ORPHANET:564 B9D1 27077 HP:0000532 Chorioretinal abnormality ORPHANET:564 B9D1 27077 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:564 B9D1 27077 HP:0001696 Situs inversus totalis ORPHANET:564 B9D1 27077 HP:0000037 Male pseudohermaphroditism ORPHANET:564 B9D1 27077 HP:0000647 Sclerocornea ORPHANET:564 B9D1 27077 HP:0001360 Holoprosencephaly ORPHANET:564 B9D1 27077 HP:0000518 Cataract ORPHANET:564 B9D1 27077 HP:0001305 Dandy-Walker malformation ORPHANET:564 B9D1 27077 HP:0010295 Aplasia/Hypoplasia of the tongue ORPHANET:564 B9D1 27077 HP:0000293 Full cheeks ORPHANET:564 B9D1 27077 HP:0000457 Depressed nasal ridge ORPHANET:564 B9D1 27077 HP:0000316 Hypertelorism ORPHANET:564 B9D1 27077 HP:0000252 Microcephaly ORPHANET:564 B9D1 27077 HP:0001743 Abnormality of the spleen ORPHANET:564 B9D1 27077 HP:0001737 Pancreatic cysts ORPHANET:564 B9D1 27077 HP:0001162 Postaxial hand polydactyly ORPHANET:564 B9D1 27077 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:564 B9D1 27077 HP:0001177 Preaxial hand polydactyly ORPHANET:564 B9D1 27077 HP:0000003 Multicystic kidney dysplasia ORPHANET:564 B9D1 27077 HP:0000238 Hydrocephalus ORPHANET:564 B9D1 27077 HP:0000175 Cleft palate ORPHANET:564 B9D1 27077 HP:0002612 Congenital hepatic fibrosis ORPHANET:564 B9D1 27077 HP:0000347 Micrognathia ORPHANET:564 TMEM231 79583 HP:0010459 True hermaphroditism ORPHANET:564 TMEM231 79583 HP:0000482 Microcornea ORPHANET:564 TMEM231 79583 HP:0100732 Pancreatic fibrosis ORPHANET:564 TMEM231 79583 HP:0001830 Postaxial foot polydactyly ORPHANET:564 TMEM231 79583 HP:0002323 Anencephaly ORPHANET:564 TMEM231 79583 HP:0000340 Sloping forehead ORPHANET:564 TMEM231 79583 HP:0000795 Abnormality of the urethra ORPHANET:564 TMEM231 79583 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:564 TMEM231 79583 HP:0000648 Optic atrophy ORPHANET:564 TMEM231 79583 HP:0006487 Bowing of the long bones ORPHANET:564 TMEM231 79583 HP:0001562 Oligohydramnios ORPHANET:564 TMEM231 79583 HP:0002084 Encephalocele ORPHANET:564 TMEM231 79583 HP:0000028 Cryptorchidism ORPHANET:564 TMEM231 79583 HP:0001883 Talipes ORPHANET:564 TMEM231 79583 HP:0000221 Furrowed tongue ORPHANET:564 TMEM231 79583 HP:0006706 Cystic liver disease ORPHANET:564 TMEM231 79583 HP:0000532 Chorioretinal abnormality ORPHANET:564 TMEM231 79583 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:564 TMEM231 79583 HP:0001696 Situs inversus totalis ORPHANET:564 TMEM231 79583 HP:0000037 Male pseudohermaphroditism ORPHANET:564 TMEM231 79583 HP:0000647 Sclerocornea ORPHANET:564 TMEM231 79583 HP:0001360 Holoprosencephaly ORPHANET:564 TMEM231 79583 HP:0000518 Cataract ORPHANET:564 TMEM231 79583 HP:0001305 Dandy-Walker malformation ORPHANET:564 TMEM231 79583 HP:0010295 Aplasia/Hypoplasia of the tongue ORPHANET:564 TMEM231 79583 HP:0000293 Full cheeks ORPHANET:564 TMEM231 79583 HP:0000457 Depressed nasal ridge ORPHANET:564 TMEM231 79583 HP:0000316 Hypertelorism ORPHANET:564 TMEM231 79583 HP:0000252 Microcephaly ORPHANET:564 TMEM231 79583 HP:0001743 Abnormality of the spleen ORPHANET:564 TMEM231 79583 HP:0001737 Pancreatic cysts ORPHANET:564 TMEM231 79583 HP:0001162 Postaxial hand polydactyly ORPHANET:564 TMEM231 79583 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:564 TMEM231 79583 HP:0001177 Preaxial hand polydactyly ORPHANET:564 TMEM231 79583 HP:0000003 Multicystic kidney dysplasia ORPHANET:564 TMEM231 79583 HP:0000238 Hydrocephalus ORPHANET:564 TMEM231 79583 HP:0000175 Cleft palate ORPHANET:564 TMEM231 79583 HP:0002612 Congenital hepatic fibrosis ORPHANET:564 TMEM231 79583 HP:0000347 Micrognathia ORPHANET:564 MKS1 54903 HP:0010459 True hermaphroditism ORPHANET:564 MKS1 54903 HP:0000482 Microcornea ORPHANET:564 MKS1 54903 HP:0100732 Pancreatic fibrosis ORPHANET:564 MKS1 54903 HP:0001830 Postaxial foot polydactyly ORPHANET:564 MKS1 54903 HP:0002323 Anencephaly ORPHANET:564 MKS1 54903 HP:0000340 Sloping forehead ORPHANET:564 MKS1 54903 HP:0000795 Abnormality of the urethra ORPHANET:564 MKS1 54903 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:564 MKS1 54903 HP:0000648 Optic atrophy ORPHANET:564 MKS1 54903 HP:0006487 Bowing of the long bones ORPHANET:564 MKS1 54903 HP:0001562 Oligohydramnios ORPHANET:564 MKS1 54903 HP:0002084 Encephalocele ORPHANET:564 MKS1 54903 HP:0000028 Cryptorchidism ORPHANET:564 MKS1 54903 HP:0001883 Talipes ORPHANET:564 MKS1 54903 HP:0000221 Furrowed tongue ORPHANET:564 MKS1 54903 HP:0006706 Cystic liver disease ORPHANET:564 MKS1 54903 HP:0000532 Chorioretinal abnormality ORPHANET:564 MKS1 54903 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:564 MKS1 54903 HP:0001696 Situs inversus totalis ORPHANET:564 MKS1 54903 HP:0000037 Male pseudohermaphroditism ORPHANET:564 MKS1 54903 HP:0000647 Sclerocornea ORPHANET:564 MKS1 54903 HP:0001360 Holoprosencephaly ORPHANET:564 MKS1 54903 HP:0000518 Cataract ORPHANET:564 MKS1 54903 HP:0001305 Dandy-Walker malformation ORPHANET:564 MKS1 54903 HP:0010295 Aplasia/Hypoplasia of the tongue ORPHANET:564 MKS1 54903 HP:0000293 Full cheeks ORPHANET:564 MKS1 54903 HP:0000457 Depressed nasal ridge ORPHANET:564 MKS1 54903 HP:0000316 Hypertelorism ORPHANET:564 MKS1 54903 HP:0000252 Microcephaly ORPHANET:564 MKS1 54903 HP:0001743 Abnormality of the spleen ORPHANET:564 MKS1 54903 HP:0001737 Pancreatic cysts ORPHANET:564 MKS1 54903 HP:0001162 Postaxial hand polydactyly ORPHANET:564 MKS1 54903 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:564 MKS1 54903 HP:0001177 Preaxial hand polydactyly ORPHANET:564 MKS1 54903 HP:0000003 Multicystic kidney dysplasia ORPHANET:564 MKS1 54903 HP:0000238 Hydrocephalus ORPHANET:564 MKS1 54903 HP:0000175 Cleft palate ORPHANET:564 MKS1 54903 HP:0002612 Congenital hepatic fibrosis ORPHANET:564 MKS1 54903 HP:0000347 Micrognathia ORPHANET:564 TMEM67 91147 HP:0010459 True hermaphroditism ORPHANET:564 TMEM67 91147 HP:0000482 Microcornea ORPHANET:564 TMEM67 91147 HP:0100732 Pancreatic fibrosis ORPHANET:564 TMEM67 91147 HP:0001830 Postaxial foot polydactyly ORPHANET:564 TMEM67 91147 HP:0002323 Anencephaly ORPHANET:564 TMEM67 91147 HP:0000340 Sloping forehead ORPHANET:564 TMEM67 91147 HP:0000795 Abnormality of the urethra ORPHANET:564 TMEM67 91147 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:564 TMEM67 91147 HP:0000648 Optic atrophy ORPHANET:564 TMEM67 91147 HP:0006487 Bowing of the long bones ORPHANET:564 TMEM67 91147 HP:0001562 Oligohydramnios ORPHANET:564 TMEM67 91147 HP:0002084 Encephalocele ORPHANET:564 TMEM67 91147 HP:0000028 Cryptorchidism ORPHANET:564 TMEM67 91147 HP:0001883 Talipes ORPHANET:564 TMEM67 91147 HP:0000221 Furrowed tongue ORPHANET:564 TMEM67 91147 HP:0006706 Cystic liver disease ORPHANET:564 TMEM67 91147 HP:0000532 Chorioretinal abnormality ORPHANET:564 TMEM67 91147 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:564 TMEM67 91147 HP:0001696 Situs inversus totalis ORPHANET:564 TMEM67 91147 HP:0000037 Male pseudohermaphroditism ORPHANET:564 TMEM67 91147 HP:0000647 Sclerocornea ORPHANET:564 TMEM67 91147 HP:0001360 Holoprosencephaly ORPHANET:564 TMEM67 91147 HP:0000518 Cataract ORPHANET:564 TMEM67 91147 HP:0001305 Dandy-Walker malformation ORPHANET:564 TMEM67 91147 HP:0010295 Aplasia/Hypoplasia of the tongue ORPHANET:564 TMEM67 91147 HP:0000293 Full cheeks ORPHANET:564 TMEM67 91147 HP:0000457 Depressed nasal ridge ORPHANET:564 TMEM67 91147 HP:0000316 Hypertelorism ORPHANET:564 TMEM67 91147 HP:0000252 Microcephaly ORPHANET:564 TMEM67 91147 HP:0001743 Abnormality of the spleen ORPHANET:564 TMEM67 91147 HP:0001737 Pancreatic cysts ORPHANET:564 TMEM67 91147 HP:0001162 Postaxial hand polydactyly ORPHANET:564 TMEM67 91147 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:564 TMEM67 91147 HP:0001177 Preaxial hand polydactyly ORPHANET:564 TMEM67 91147 HP:0000003 Multicystic kidney dysplasia ORPHANET:564 TMEM67 91147 HP:0000238 Hydrocephalus ORPHANET:564 TMEM67 91147 HP:0000175 Cleft palate ORPHANET:564 TMEM67 91147 HP:0002612 Congenital hepatic fibrosis ORPHANET:564 TMEM67 91147 HP:0000347 Micrognathia ORPHANET:564 B9D2 80776 HP:0010459 True hermaphroditism ORPHANET:564 B9D2 80776 HP:0000482 Microcornea ORPHANET:564 B9D2 80776 HP:0100732 Pancreatic fibrosis ORPHANET:564 B9D2 80776 HP:0001830 Postaxial foot polydactyly ORPHANET:564 B9D2 80776 HP:0002323 Anencephaly ORPHANET:564 B9D2 80776 HP:0000340 Sloping forehead ORPHANET:564 B9D2 80776 HP:0000795 Abnormality of the urethra ORPHANET:564 B9D2 80776 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:564 B9D2 80776 HP:0000648 Optic atrophy ORPHANET:564 B9D2 80776 HP:0006487 Bowing of the long bones ORPHANET:564 B9D2 80776 HP:0001562 Oligohydramnios ORPHANET:564 B9D2 80776 HP:0002084 Encephalocele ORPHANET:564 B9D2 80776 HP:0000028 Cryptorchidism ORPHANET:564 B9D2 80776 HP:0001883 Talipes ORPHANET:564 B9D2 80776 HP:0000221 Furrowed tongue ORPHANET:564 B9D2 80776 HP:0006706 Cystic liver disease ORPHANET:564 B9D2 80776 HP:0000532 Chorioretinal abnormality ORPHANET:564 B9D2 80776 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:564 B9D2 80776 HP:0001696 Situs inversus totalis ORPHANET:564 B9D2 80776 HP:0000037 Male pseudohermaphroditism ORPHANET:564 B9D2 80776 HP:0000647 Sclerocornea ORPHANET:564 B9D2 80776 HP:0001360 Holoprosencephaly ORPHANET:564 B9D2 80776 HP:0000518 Cataract ORPHANET:564 B9D2 80776 HP:0001305 Dandy-Walker malformation ORPHANET:564 B9D2 80776 HP:0010295 Aplasia/Hypoplasia of the tongue ORPHANET:564 B9D2 80776 HP:0000293 Full cheeks ORPHANET:564 B9D2 80776 HP:0000457 Depressed nasal ridge ORPHANET:564 B9D2 80776 HP:0000316 Hypertelorism ORPHANET:564 B9D2 80776 HP:0000252 Microcephaly ORPHANET:564 B9D2 80776 HP:0001743 Abnormality of the spleen ORPHANET:564 B9D2 80776 HP:0001737 Pancreatic cysts ORPHANET:564 B9D2 80776 HP:0001162 Postaxial hand polydactyly ORPHANET:564 B9D2 80776 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:564 B9D2 80776 HP:0001177 Preaxial hand polydactyly ORPHANET:564 B9D2 80776 HP:0000003 Multicystic kidney dysplasia ORPHANET:564 B9D2 80776 HP:0000238 Hydrocephalus ORPHANET:564 B9D2 80776 HP:0000175 Cleft palate ORPHANET:564 B9D2 80776 HP:0002612 Congenital hepatic fibrosis ORPHANET:564 B9D2 80776 HP:0000347 Micrognathia ORPHANET:564 RPGRIP1L 23322 HP:0010459 True hermaphroditism ORPHANET:564 RPGRIP1L 23322 HP:0000482 Microcornea ORPHANET:564 RPGRIP1L 23322 HP:0100732 Pancreatic fibrosis ORPHANET:564 RPGRIP1L 23322 HP:0001830 Postaxial foot polydactyly ORPHANET:564 RPGRIP1L 23322 HP:0002323 Anencephaly ORPHANET:564 RPGRIP1L 23322 HP:0000340 Sloping forehead ORPHANET:564 RPGRIP1L 23322 HP:0000795 Abnormality of the urethra ORPHANET:564 RPGRIP1L 23322 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:564 RPGRIP1L 23322 HP:0000648 Optic atrophy ORPHANET:564 RPGRIP1L 23322 HP:0006487 Bowing of the long bones ORPHANET:564 RPGRIP1L 23322 HP:0001562 Oligohydramnios ORPHANET:564 RPGRIP1L 23322 HP:0002084 Encephalocele ORPHANET:564 RPGRIP1L 23322 HP:0000028 Cryptorchidism ORPHANET:564 RPGRIP1L 23322 HP:0001883 Talipes ORPHANET:564 RPGRIP1L 23322 HP:0000221 Furrowed tongue ORPHANET:564 RPGRIP1L 23322 HP:0006706 Cystic liver disease ORPHANET:564 RPGRIP1L 23322 HP:0000532 Chorioretinal abnormality ORPHANET:564 RPGRIP1L 23322 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:564 RPGRIP1L 23322 HP:0001696 Situs inversus totalis ORPHANET:564 RPGRIP1L 23322 HP:0000037 Male pseudohermaphroditism ORPHANET:564 RPGRIP1L 23322 HP:0000647 Sclerocornea ORPHANET:564 RPGRIP1L 23322 HP:0001360 Holoprosencephaly ORPHANET:564 RPGRIP1L 23322 HP:0000518 Cataract ORPHANET:564 RPGRIP1L 23322 HP:0001305 Dandy-Walker malformation ORPHANET:564 RPGRIP1L 23322 HP:0010295 Aplasia/Hypoplasia of the tongue ORPHANET:564 RPGRIP1L 23322 HP:0000293 Full cheeks ORPHANET:564 RPGRIP1L 23322 HP:0000457 Depressed nasal ridge ORPHANET:564 RPGRIP1L 23322 HP:0000316 Hypertelorism ORPHANET:564 RPGRIP1L 23322 HP:0000252 Microcephaly ORPHANET:564 RPGRIP1L 23322 HP:0001743 Abnormality of the spleen ORPHANET:564 RPGRIP1L 23322 HP:0001737 Pancreatic cysts ORPHANET:564 RPGRIP1L 23322 HP:0001162 Postaxial hand polydactyly ORPHANET:564 RPGRIP1L 23322 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:564 RPGRIP1L 23322 HP:0001177 Preaxial hand polydactyly ORPHANET:564 RPGRIP1L 23322 HP:0000003 Multicystic kidney dysplasia ORPHANET:564 RPGRIP1L 23322 HP:0000238 Hydrocephalus ORPHANET:564 RPGRIP1L 23322 HP:0000175 Cleft palate ORPHANET:564 RPGRIP1L 23322 HP:0002612 Congenital hepatic fibrosis ORPHANET:564 RPGRIP1L 23322 HP:0000347 Micrognathia ORPHANET:564 TCTN2 79867 HP:0010459 True hermaphroditism ORPHANET:564 TCTN2 79867 HP:0000482 Microcornea ORPHANET:564 TCTN2 79867 HP:0100732 Pancreatic fibrosis ORPHANET:564 TCTN2 79867 HP:0001830 Postaxial foot polydactyly ORPHANET:564 TCTN2 79867 HP:0002323 Anencephaly ORPHANET:564 TCTN2 79867 HP:0000340 Sloping forehead ORPHANET:564 TCTN2 79867 HP:0000795 Abnormality of the urethra ORPHANET:564 TCTN2 79867 HP:0007370 Aplasia/Hypoplasia of the corpus callosum ORPHANET:564 TCTN2 79867 HP:0000648 Optic atrophy ORPHANET:564 TCTN2 79867 HP:0006487 Bowing of the long bones ORPHANET:564 TCTN2 79867 HP:0001562 Oligohydramnios ORPHANET:564 TCTN2 79867 HP:0002084 Encephalocele ORPHANET:564 TCTN2 79867 HP:0000028 Cryptorchidism ORPHANET:564 TCTN2 79867 HP:0001883 Talipes ORPHANET:564 TCTN2 79867 HP:0000221 Furrowed tongue ORPHANET:564 TCTN2 79867 HP:0006706 Cystic liver disease ORPHANET:564 TCTN2 79867 HP:0000532 Chorioretinal abnormality ORPHANET:564 TCTN2 79867 HP:0008053 Aplasia/Hypoplasia of the iris ORPHANET:564 TCTN2 79867 HP:0001696 Situs inversus totalis ORPHANET:564 TCTN2 79867 HP:0000037 Male pseudohermaphroditism ORPHANET:564 TCTN2 79867 HP:0000647 Sclerocornea ORPHANET:564 TCTN2 79867 HP:0001360 Holoprosencephaly ORPHANET:564 TCTN2 79867 HP:0000518 Cataract ORPHANET:564 TCTN2 79867 HP:0001305 Dandy-Walker malformation ORPHANET:564 TCTN2 79867 HP:0010295 Aplasia/Hypoplasia of the tongue ORPHANET:564 TCTN2 79867 HP:0000293 Full cheeks ORPHANET:564 TCTN2 79867 HP:0000457 Depressed nasal ridge ORPHANET:564 TCTN2 79867 HP:0000316 Hypertelorism ORPHANET:564 TCTN2 79867 HP:0000252 Microcephaly ORPHANET:564 TCTN2 79867 HP:0001743 Abnormality of the spleen ORPHANET:564 TCTN2 79867 HP:0001737 Pancreatic cysts ORPHANET:564 TCTN2 79867 HP:0001162 Postaxial hand polydactyly ORPHANET:564 TCTN2 79867 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:564 TCTN2 79867 HP:0001177 Preaxial hand polydactyly ORPHANET:564 TCTN2 79867 HP:0000003 Multicystic kidney dysplasia ORPHANET:564 TCTN2 79867 HP:0000238 Hydrocephalus ORPHANET:564 TCTN2 79867 HP:0000175 Cleft palate ORPHANET:564 TCTN2 79867 HP:0002612 Congenital hepatic fibrosis ORPHANET:564 TCTN2 79867 HP:0000347 Micrognathia OMIM:613268 SLC4A11 83959 HP:0001131 Corneal dystrophy OMIM:609939 ITGAM 3684 HP:0010982 Polygenic inheritance OMIM:609939 ITGAM 3684 HP:0002725 Systemic lupus erythematosus OMIM:106190 ITPR2 3709 HP:0000970 Anhidrosis OMIM:106190 ITPR2 3709 HP:0000006 Autosomal dominant inheritance OMIM:106190 ITPR2 3709 HP:0007459 Generalized anhidrosis OMIM:106190 ITPR2 3709 HP:0002046 Heat intolerance OMIM:177850 ABCC6 368 HP:0002808 Kyphosis OMIM:177850 ABCC6 368 HP:0000608 Macular degeneration OMIM:177850 ABCC6 368 HP:0005297 Premature occlusive vascular disease OMIM:177850 ABCC6 368 HP:0000545 Myopia OMIM:177850 ABCC6 368 HP:0000766 Abnormality of the sternum OMIM:177850 ABCC6 368 HP:0000505 Visual impairment OMIM:177850 ABCC6 368 HP:0000573 Retinal hemorrhage OMIM:177850 ABCC6 368 HP:0002239 Gastrointestinal hemorrhage OMIM:177850 ABCC6 368 HP:0000218 High palate OMIM:177850 ABCC6 368 HP:0001681 Angina pectoris OMIM:177850 ABCC6 368 HP:0000006 Autosomal dominant inheritance OMIM:177850 ABCC6 368 HP:0000592 Blue sclerae OMIM:177850 ABCC6 368 HP:0001342 Cerebral hemorrhage OMIM:177850 ABCC6 368 HP:0005462 Calcification of falx cerebri OMIM:177850 ABCC6 368 HP:0001102 Angioid streaks of the retina OMIM:177850 ABCC6 368 HP:0002650 Scoliosis OMIM:177850 ABCC6 368 HP:0004966 Medial calcification of large arteries OMIM:177850 ABCC6 368 HP:0001634 Mitral valve prolapse OMIM:177850 ABCC6 368 HP:0000951 Abnormality of the skin OMIM:212140 SLC22A5 6584 HP:0003198 Myopathy OMIM:212140 SLC22A5 6584 HP:0001639 Hypertrophic cardiomyopathy OMIM:212140 SLC22A5 6584 HP:0001259 Coma OMIM:212140 SLC22A5 6584 HP:0001397 Hepatic steatosis OMIM:212140 SLC22A5 6584 HP:0005959 Impaired gluconeogenesis OMIM:212140 SLC22A5 6584 HP:0000007 Autosomal recessive inheritance OMIM:212140 SLC22A5 6584 HP:0002910 Elevated hepatic transaminases OMIM:212140 SLC22A5 6584 HP:0001987 Hyperammonemia OMIM:212140 SLC22A5 6584 HP:0001640 Cardiomegaly OMIM:212140 SLC22A5 6584 HP:0001988 Recurrent hypoglycemia OMIM:212140 SLC22A5 6584 HP:0001254 Lethargy OMIM:212140 SLC22A5 6584 HP:0001289 Confusion OMIM:212140 SLC22A5 6584 HP:0001298 Encephalopathy OMIM:212140 SLC22A5 6584 HP:0001508 Failure to thrive OMIM:212140 SLC22A5 6584 HP:0001324 Muscle weakness OMIM:212140 SLC22A5 6584 HP:0002240 Hepatomegaly OMIM:212140 SLC22A5 6584 HP:0001252 Muscular hypotonia OMIM:212140 SLC22A5 6584 HP:0001635 Congestive heart failure OMIM:212140 SLC22A5 6584 HP:0001706 Endocardial fibroelastosis OMIM:212140 SLC22A5 6584 HP:0002013 Vomiting OMIM:212140 SLC22A5 6584 HP:0001262 Somnolence OMIM:212140 SLC22A5 6584 HP:0003234 Decreased plasma carnitine OMIM:614209 B9D1 27077 HP:0000003 Multicystic kidney dysplasia OMIM:614209 B9D1 27077 HP:0000062 Ambiguous genitalia OMIM:614209 B9D1 27077 HP:0001762 Talipes equinovarus OMIM:614209 B9D1 27077 HP:0000007 Autosomal recessive inheritance OMIM:614209 B9D1 27077 HP:0000932 Abnormality of the posterior cranial fossa OMIM:614209 B9D1 27077 HP:0009826 Limb undergrowth OMIM:614209 B9D1 27077 HP:0002085 Occipital encephalocele OMIM:606612 FKRP 79147 HP:0002948 Vertebral fusion OMIM:606612 FKRP 79147 HP:0000158 Macroglossia OMIM:606612 FKRP 79147 HP:0003307 Hyperlordosis OMIM:606612 FKRP 79147 HP:0003828 Variable expressivity OMIM:606612 FKRP 79147 HP:0003236 Elevated serum creatine phosphokinase OMIM:606612 FKRP 79147 HP:0003547 Shoulder girdle muscle weakness OMIM:606612 FKRP 79147 HP:0002808 Kyphosis OMIM:606612 FKRP 79147 HP:0010628 Facial palsy OMIM:606612 FKRP 79147 HP:0003733 Thigh hypertrophy OMIM:606612 FKRP 79147 HP:0001771 Achilles tendon contracture OMIM:606612 FKRP 79147 HP:0008872 Feeding difficulties in infancy OMIM:606612 FKRP 79147 HP:0003551 Difficulty climbing stairs OMIM:606612 FKRP 79147 HP:0000007 Autosomal recessive inheritance OMIM:606612 FKRP 79147 HP:0003324 Generalized muscle weakness OMIM:606612 FKRP 79147 HP:0008981 Calf muscle hypertrophy OMIM:606612 FKRP 79147 HP:0003458 EMG: myopathic abnormalities OMIM:606612 FKRP 79147 HP:0003577 Congenital onset OMIM:606612 FKRP 79147 HP:0002359 Frequent falls OMIM:606612 FKRP 79147 HP:0001272 Cerebellar atrophy OMIM:606612 FKRP 79147 HP:0002111 Restrictive respiratory insufficiency OMIM:606612 FKRP 79147 HP:0002194 Delayed gross motor development OMIM:606612 FKRP 79147 HP:0040083 Toe walking OMIM:606612 FKRP 79147 HP:0002119 Ventriculomegaly OMIM:606612 FKRP 79147 HP:0001302 Pachygyria OMIM:606612 FKRP 79147 HP:0003724 Shoulder girdle muscle atrophy OMIM:606612 FKRP 79147 HP:0003701 Proximal muscle weakness OMIM:606612 FKRP 79147 HP:0002355 Difficulty walking OMIM:606612 FKRP 79147 HP:0001319 Neonatal hypotonia OMIM:606612 FKRP 79147 HP:0002650 Scoliosis OMIM:606612 FKRP 79147 HP:0007126 Proximal amyotrophy OMIM:606612 FKRP 79147 HP:0001249 Intellectual disability OMIM:606612 FKRP 79147 HP:0003394 Muscle cramps OMIM:606612 FKRP 79147 HP:0003741 Congenital muscular dystrophy OMIM:606612 FKRP 79147 HP:0000252 Microcephaly OMIM:606612 FKRP 79147 HP:0003326 Myalgia OMIM:606612 FKRP 79147 HP:0002350 Cerebellar cyst OMIM:606612 FKRP 79147 HP:0002500 Abnormality of the cerebral white matter OMIM:615802 PGAP1 80055 HP:0001319 Neonatal hypotonia OMIM:615802 PGAP1 80055 HP:0001250 Seizures OMIM:615802 PGAP1 80055 HP:0001263 Global developmental delay OMIM:615802 PGAP1 80055 HP:0002059 Cerebral atrophy OMIM:615802 PGAP1 80055 HP:0001249 Intellectual disability OMIM:615802 PGAP1 80055 HP:0000400 Macrotia OMIM:162300 RET 5979 HP:0000767 Pectus excavatum OMIM:162300 RET 5979 HP:0005994 Nodular goiter OMIM:162300 RET 5979 HP:0001519 Disproportionate tall stature OMIM:162300 RET 5979 HP:0000179 Thick lower lip vermilion OMIM:162300 RET 5979 HP:0002650 Scoliosis OMIM:162300 RET 5979 HP:0002666 Pheochromocytoma OMIM:162300 RET 5979 HP:0002808 Kyphosis OMIM:162300 RET 5979 HP:0002251 Aganglionic megacolon OMIM:162300 RET 5979 HP:0002865 Medullary thyroid carcinoma OMIM:162300 RET 5979 HP:0003307 Hyperlordosis OMIM:162300 RET 5979 HP:0000951 Abnormality of the skin OMIM:162300 RET 5979 HP:0000218 High palate OMIM:162300 RET 5979 HP:0002253 Colonic diverticulosis OMIM:162300 RET 5979 HP:0001388 Joint laxity OMIM:162300 RET 5979 HP:0001252 Muscular hypotonia OMIM:162300 RET 5979 HP:0003198 Myopathy OMIM:162300 RET 5979 HP:0002019 Constipation OMIM:162300 RET 5979 HP:0003005 Ganglioneuroma OMIM:162300 RET 5979 HP:0003528 Elevated calcitonin OMIM:162300 RET 5979 HP:0001531 Failure to thrive in infancy OMIM:162300 RET 5979 HP:0000574 Thick eyebrow OMIM:162300 RET 5979 HP:0006461 Proximal femoral epiphysiolysis OMIM:162300 RET 5979 HP:0002014 Diarrhea OMIM:162300 RET 5979 HP:0001761 Pes cavus OMIM:162300 RET 5979 HP:0001263 Global developmental delay OMIM:162300 RET 5979 HP:0000006 Autosomal dominant inheritance OMIM:162300 RET 5979 HP:0003639 Elevated urinary epinephrine OMIM:162300 RET 5979 HP:0008208 Parathyroid hyperplasia OMIM:123100 TWIST1 7291 HP:0000006 Autosomal dominant inheritance OMIM:123100 TWIST1 7291 HP:0002516 Increased intracranial pressure OMIM:123100 TWIST1 7291 HP:0100543 Cognitive impairment OMIM:123100 TWIST1 7291 HP:0000262 Turricephaly OMIM:123100 TWIST1 7291 HP:0000263 Oxycephaly OMIM:123100 TWIST1 7291 HP:0001363 Craniosynostosis OMIM:123100 TWIST1 7291 HP:0000268 Dolichocephaly OMIM:123100 TWIST1 7291 HP:0000648 Optic atrophy OMIM:123100 TWIST1 7291 HP:0002308 Arnold-Chiari malformation OMIM:313200 AR 367 HP:0001283 Bulbar palsy OMIM:313200 AR 367 HP:0008981 Calf muscle hypertrophy OMIM:313200 AR 367 HP:0005978 Type II diabetes mellitus OMIM:313200 AR 367 HP:0001419 X-linked recessive inheritance OMIM:313200 AR 367 HP:0000771 Gynecomastia OMIM:313200 AR 367 HP:0002380 Fasciculations OMIM:313200 AR 367 HP:0003690 Limb muscle weakness OMIM:313200 AR 367 HP:0000029 Testicular atrophy OMIM:313200 AR 367 HP:0001265 Hyporeflexia OMIM:313200 AR 367 HP:0003394 Muscle cramps OMIM:313200 AR 367 HP:0001252 Muscular hypotonia OMIM:313200 AR 367 HP:0001337 Tremor OMIM:313200 AR 367 HP:0002167 Neurological speech impairment OMIM:313200 AR 367 HP:0001288 Gait disturbance OMIM:313200 AR 367 HP:0000144 Decreased fertility OMIM:313200 AR 367 HP:0009830 Peripheral neuropathy OMIM:313200 AR 367 HP:0100639 Erectile abnormalities OMIM:313200 AR 367 HP:0000035 Abnormality of the testis OMIM:313200 AR 367 HP:0000153 Abnormality of the mouth OMIM:313200 AR 367 HP:0003236 Elevated serum creatine phosphokinase OMIM:313200 AR 367 HP:0003581 Adult onset OMIM:313200 AR 367 HP:0002015 Dysphagia OMIM:313200 AR 367 HP:0001315 Reduced tendon reflexes OMIM:313200 AR 367 HP:0000763 Sensory neuropathy OMIM:313200 AR 367 HP:0001260 Dysarthria OMIM:313200 AR 367 HP:0003677 Slow progression OMIM:313200 AR 367 HP:0003119 Abnormality of lipid metabolism OMIM:313200 AR 367 HP:0003202 Skeletal muscle atrophy OMIM:255120 CPT1A 1374 HP:0004374 Hemiplegia/hemiparesis OMIM:255120 CPT1A 1374 HP:0002167 Neurological speech impairment OMIM:255120 CPT1A 1374 HP:0003202 Skeletal muscle atrophy OMIM:255120 CPT1A 1374 HP:0001252 Muscular hypotonia OMIM:255120 CPT1A 1374 HP:0003119 Abnormality of lipid metabolism OMIM:255120 CPT1A 1374 HP:0001250 Seizures OMIM:255120 CPT1A 1374 HP:0001985 Hypoketotic hypoglycemia OMIM:255120 CPT1A 1374 HP:0003236 Elevated serum creatine phosphokinase OMIM:255120 CPT1A 1374 HP:0001639 Hypertrophic cardiomyopathy OMIM:255120 CPT1A 1374 HP:0000091 Abnormality of the renal tubule OMIM:255120 CPT1A 1374 HP:0001254 Lethargy OMIM:255120 CPT1A 1374 HP:0001640 Cardiomegaly OMIM:255120 CPT1A 1374 HP:0008872 Feeding difficulties in infancy OMIM:255120 CPT1A 1374 HP:0007335 Recurrent encephalopathy OMIM:255120 CPT1A 1374 HP:0001947 Renal tubular acidosis OMIM:255120 CPT1A 1374 HP:0002240 Hepatomegaly OMIM:255120 CPT1A 1374 HP:0001943 Hypoglycemia OMIM:255120 CPT1A 1374 HP:0001399 Hepatic failure OMIM:255120 CPT1A 1374 HP:0001987 Hyperammonemia OMIM:255120 CPT1A 1374 HP:0000708 Behavioral abnormality OMIM:255120 CPT1A 1374 HP:0008279 Transient hyperlipidemia OMIM:255120 CPT1A 1374 HP:0001397 Hepatic steatosis OMIM:255120 CPT1A 1374 HP:0001259 Coma OMIM:255120 CPT1A 1374 HP:0004372 Reduced consciousness/confusion OMIM:255120 CPT1A 1374 HP:0011675 Arrhythmia OMIM:255120 CPT1A 1374 HP:0002910 Elevated hepatic transaminases OMIM:255120 CPT1A 1374 HP:0000007 Autosomal recessive inheritance OMIM:255120 CPT1A 1374 HP:0002014 Diarrhea OMIM:255120 CPT1A 1374 HP:0001315 Reduced tendon reflexes OMIM:255120 CPT1A 1374 HP:0002686 Prenatal maternal abnormality OMIM:255120 CPT1A 1374 HP:0001645 Sudden cardiac death OMIM:182410 CECR1 51816 HP:0001324 Muscle weakness OMIM:182410 CECR1 51816 HP:0002072 Chorea OMIM:182410 CECR1 51816 HP:0002321 Vertigo OMIM:182410 CECR1 51816 HP:0000965 Cutis marmorata OMIM:182410 CECR1 51816 HP:0002315 Headache OMIM:182410 CECR1 51816 HP:0002167 Neurological speech impairment OMIM:182410 CECR1 51816 HP:0004374 Hemiplegia/hemiparesis OMIM:182410 CECR1 51816 HP:0001250 Seizures OMIM:182410 CECR1 51816 HP:0002301 Hemiplegia OMIM:182410 CECR1 51816 HP:0002376 Developmental regression OMIM:182410 CECR1 51816 HP:0002637 Cerebral ischemia OMIM:182410 CECR1 51816 HP:0003745 Sporadic OMIM:182410 CECR1 51816 HP:0000822 Hypertension OMIM:182410 CECR1 51816 HP:0010628 Facial palsy OMIM:182410 CECR1 51816 HP:0002170 Intracranial hemorrhage OMIM:182410 CECR1 51816 HP:0001297 Stroke OMIM:182410 CECR1 51816 HP:0001268 Mental deterioration OMIM:182410 CECR1 51816 HP:0000006 Autosomal dominant inheritance OMIM:182410 CECR1 51816 HP:0001337 Tremor OMIM:182410 CECR1 51816 HP:0100576 Amaurosis fugax OMIM:182410 CECR1 51816 HP:0000112 Nephropathy OMIM:182410 CECR1 51816 HP:0003676 Progressive disorder OMIM:182410 CECR1 51816 HP:0002960 Autoimmunity OMIM:182410 CECR1 51816 HP:0001063 Acrocyanosis OMIM:182410 CECR1 51816 HP:0003613 Antiphospholipid antibody positivity OMIM:182410 CECR1 51816 HP:0002354 Memory impairment OMIM:182410 CECR1 51816 HP:0000708 Behavioral abnormality OMIM:182410 CECR1 51816 HP:0001260 Dysarthria OMIM:182410 CECR1 51816 HP:0002076 Migraine ORPHANET:241 ABCB6 10058 HP:0000957 Cafe-au-lait spot ORPHANET:241 ABCB6 10058 HP:0001053 Hypopigmented skin patches ORPHANET:241 ABCB6 10058 HP:0000992 Cutaneous photosensitivity ORPHANET:241 ABCB6 10058 HP:0000365 Hearing impairment ORPHANET:241 ABCB6 10058 HP:0004322 Short stature ORPHANET:241 ABCB6 10058 HP:0001480 Freckling ORPHANET:241 ABCB6 10058 HP:0001034 Hypermelanotic macule OMIM:613668 MED17 9440 HP:0011968 Feeding difficulties OMIM:613668 MED17 9440 HP:0002169 Clonus OMIM:613668 MED17 9440 HP:0001508 Failure to thrive OMIM:613668 MED17 9440 HP:0002521 Hypsarrhythmia OMIM:613668 MED17 9440 HP:0001263 Global developmental delay OMIM:613668 MED17 9440 HP:0005484 Postnatal microcephaly OMIM:613668 MED17 9440 HP:0001250 Seizures OMIM:613668 MED17 9440 HP:0002506 Diffuse cerebral atrophy OMIM:613668 MED17 9440 HP:0000253 Progressive microcephaly OMIM:613668 MED17 9440 HP:0000007 Autosomal recessive inheritance OMIM:613668 MED17 9440 HP:0002015 Dysphagia OMIM:613668 MED17 9440 HP:0003676 Progressive disorder OMIM:613668 MED17 9440 HP:0001257 Spasticity OMIM:177200 SCNN1G 6340 HP:0002900 Hypokalemia OMIM:177200 SCNN1G 6340 HP:0003351 Decreased circulating renin level OMIM:177200 SCNN1G 6340 HP:0001324 Muscle weakness OMIM:177200 SCNN1G 6340 HP:0000112 Nephropathy OMIM:177200 SCNN1G 6340 HP:0002019 Constipation OMIM:177200 SCNN1G 6340 HP:0000006 Autosomal dominant inheritance OMIM:177200 SCNN1G 6340 HP:0001949 Hypokalemic alkalosis OMIM:177200 SCNN1G 6340 HP:0000822 Hypertension OMIM:177200 SCNN1G 6340 HP:0004319 Hypoaldosteronism OMIM:177200 SCNN1G 6340 HP:0000083 Renal insufficiency OMIM:177200 SCNN1G 6340 HP:0011675 Arrhythmia OMIM:177200 SCNN1G 6340 HP:0002637 Cerebral ischemia OMIM:177200 SCNN1B 6338 HP:0002900 Hypokalemia OMIM:177200 SCNN1B 6338 HP:0003351 Decreased circulating renin level OMIM:177200 SCNN1B 6338 HP:0001324 Muscle weakness OMIM:177200 SCNN1B 6338 HP:0000112 Nephropathy OMIM:177200 SCNN1B 6338 HP:0002019 Constipation OMIM:177200 SCNN1B 6338 HP:0000006 Autosomal dominant inheritance OMIM:177200 SCNN1B 6338 HP:0001949 Hypokalemic alkalosis OMIM:177200 SCNN1B 6338 HP:0000822 Hypertension OMIM:177200 SCNN1B 6338 HP:0004319 Hypoaldosteronism OMIM:177200 SCNN1B 6338 HP:0000083 Renal insufficiency OMIM:177200 SCNN1B 6338 HP:0011675 Arrhythmia OMIM:177200 SCNN1B 6338 HP:0002637 Cerebral ischemia OMIM:616038 PSAT1 29968 HP:0001558 Decreased fetal movement OMIM:616038 PSAT1 29968 HP:0000470 Short neck OMIM:616038 PSAT1 29968 HP:0000340 Sloping forehead OMIM:616038 PSAT1 29968 HP:0000369 Low-set ears OMIM:616038 PSAT1 29968 HP:0000457 Depressed nasal ridge OMIM:616038 PSAT1 29968 HP:0002650 Scoliosis OMIM:616038 PSAT1 29968 HP:0000347 Micrognathia OMIM:616038 PSAT1 29968 HP:0001838 Rocker bottom foot OMIM:616038 PSAT1 29968 HP:0000252 Microcephaly OMIM:616038 PSAT1 29968 HP:0000377 Abnormality of the pinna OMIM:616038 PSAT1 29968 HP:0001511 Intrauterine growth retardation OMIM:616038 PSAT1 29968 HP:0000218 High palate OMIM:616038 PSAT1 29968 HP:0000175 Cleft palate OMIM:616038 PSAT1 29968 HP:0008064 Ichthyosis OMIM:616038 PSAT1 29968 HP:0000316 Hypertelorism ORPHANET:2616 OBSL1 23363 HP:0002983 Micromelia ORPHANET:2616 OBSL1 23363 HP:0002750 Delayed skeletal maturation ORPHANET:2616 OBSL1 23363 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:2616 OBSL1 23363 HP:0003307 Hyperlordosis ORPHANET:2616 OBSL1 23363 HP:0000144 Decreased fertility ORPHANET:2616 OBSL1 23363 HP:0010306 Short thorax ORPHANET:2616 OBSL1 23363 HP:0001511 Intrauterine growth retardation ORPHANET:2616 OBSL1 23363 HP:0002997 Abnormality of the ulna ORPHANET:2616 OBSL1 23363 HP:0003272 Abnormality of the hip bone ORPHANET:2616 OBSL1 23363 HP:0000268 Dolichocephaly ORPHANET:2616 OBSL1 23363 HP:0002650 Scoliosis ORPHANET:2616 OBSL1 23363 HP:0100659 Abnormality of the cerebral vasculature ORPHANET:2616 OBSL1 23363 HP:0000463 Anteverted nares ORPHANET:2616 OBSL1 23363 HP:0004322 Short stature ORPHANET:2616 OBSL1 23363 HP:0000307 Pointed chin ORPHANET:2616 OBSL1 23363 HP:0000377 Abnormality of the pinna ORPHANET:2616 OBSL1 23363 HP:0000343 Long philtrum ORPHANET:2616 OBSL1 23363 HP:0000325 Triangular face ORPHANET:2616 OBSL1 23363 HP:0001382 Joint hypermobility ORPHANET:2616 OBSL1 23363 HP:0002007 Frontal bossing ORPHANET:2616 OBSL1 23363 HP:0000337 Broad forehead ORPHANET:2616 OBSL1 23363 HP:0000232 Everted lower lip vermilion ORPHANET:2616 OBSL1 23363 HP:0000684 Delayed eruption of teeth ORPHANET:2616 OBSL1 23363 HP:0002808 Kyphosis ORPHANET:2616 OBSL1 23363 HP:0009811 Abnormality of the elbow ORPHANET:2616 OBSL1 23363 HP:0100625 Enlarged thorax ORPHANET:2616 OBSL1 23363 HP:0000574 Thick eyebrow ORPHANET:2616 OBSL1 23363 HP:0000772 Abnormality of the ribs ORPHANET:2616 OBSL1 23363 HP:0000470 Short neck ORPHANET:2616 OBSL1 23363 HP:0000272 Malar flattening ORPHANET:2616 OBSL1 23363 HP:0100627 Displacement of the external urethral meatus ORPHANET:2616 OBSL1 23363 HP:0000912 Sprengel anomaly ORPHANET:2616 OBSL1 23363 HP:0000944 Abnormality of the metaphyses ORPHANET:2616 OBSL1 23363 HP:0001838 Rocker bottom foot ORPHANET:2616 OBSL1 23363 HP:0000682 Abnormality of dental enamel ORPHANET:2616 OBSL1 23363 HP:0003100 Slender long bone ORPHANET:2616 OBSL1 23363 HP:0004209 Clinodactyly of the 5th finger ORPHANET:2616 CCDC8 83987 HP:0002983 Micromelia ORPHANET:2616 CCDC8 83987 HP:0002750 Delayed skeletal maturation ORPHANET:2616 CCDC8 83987 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:2616 CCDC8 83987 HP:0003307 Hyperlordosis ORPHANET:2616 CCDC8 83987 HP:0000144 Decreased fertility ORPHANET:2616 CCDC8 83987 HP:0010306 Short thorax ORPHANET:2616 CCDC8 83987 HP:0001511 Intrauterine growth retardation ORPHANET:2616 CCDC8 83987 HP:0002997 Abnormality of the ulna ORPHANET:2616 CCDC8 83987 HP:0003272 Abnormality of the hip bone ORPHANET:2616 CCDC8 83987 HP:0000268 Dolichocephaly ORPHANET:2616 CCDC8 83987 HP:0002650 Scoliosis ORPHANET:2616 CCDC8 83987 HP:0100659 Abnormality of the cerebral vasculature ORPHANET:2616 CCDC8 83987 HP:0000463 Anteverted nares ORPHANET:2616 CCDC8 83987 HP:0004322 Short stature ORPHANET:2616 CCDC8 83987 HP:0000307 Pointed chin ORPHANET:2616 CCDC8 83987 HP:0000377 Abnormality of the pinna ORPHANET:2616 CCDC8 83987 HP:0000343 Long philtrum ORPHANET:2616 CCDC8 83987 HP:0000325 Triangular face ORPHANET:2616 CCDC8 83987 HP:0001382 Joint hypermobility ORPHANET:2616 CCDC8 83987 HP:0002007 Frontal bossing ORPHANET:2616 CCDC8 83987 HP:0000337 Broad forehead ORPHANET:2616 CCDC8 83987 HP:0000232 Everted lower lip vermilion ORPHANET:2616 CCDC8 83987 HP:0000684 Delayed eruption of teeth ORPHANET:2616 CCDC8 83987 HP:0002808 Kyphosis ORPHANET:2616 CCDC8 83987 HP:0009811 Abnormality of the elbow ORPHANET:2616 CCDC8 83987 HP:0100625 Enlarged thorax ORPHANET:2616 CCDC8 83987 HP:0000574 Thick eyebrow ORPHANET:2616 CCDC8 83987 HP:0000772 Abnormality of the ribs ORPHANET:2616 CCDC8 83987 HP:0000470 Short neck ORPHANET:2616 CCDC8 83987 HP:0000272 Malar flattening ORPHANET:2616 CCDC8 83987 HP:0100627 Displacement of the external urethral meatus ORPHANET:2616 CCDC8 83987 HP:0000912 Sprengel anomaly ORPHANET:2616 CCDC8 83987 HP:0000944 Abnormality of the metaphyses ORPHANET:2616 CCDC8 83987 HP:0001838 Rocker bottom foot ORPHANET:2616 CCDC8 83987 HP:0000682 Abnormality of dental enamel ORPHANET:2616 CCDC8 83987 HP:0003100 Slender long bone ORPHANET:2616 CCDC8 83987 HP:0004209 Clinodactyly of the 5th finger ORPHANET:2616 CUL7 9820 HP:0002983 Micromelia ORPHANET:2616 CUL7 9820 HP:0002750 Delayed skeletal maturation ORPHANET:2616 CUL7 9820 HP:0003312 Abnormal form of the vertebral bodies ORPHANET:2616 CUL7 9820 HP:0003307 Hyperlordosis ORPHANET:2616 CUL7 9820 HP:0000144 Decreased fertility ORPHANET:2616 CUL7 9820 HP:0010306 Short thorax ORPHANET:2616 CUL7 9820 HP:0001511 Intrauterine growth retardation ORPHANET:2616 CUL7 9820 HP:0002997 Abnormality of the ulna ORPHANET:2616 CUL7 9820 HP:0003272 Abnormality of the hip bone ORPHANET:2616 CUL7 9820 HP:0000268 Dolichocephaly ORPHANET:2616 CUL7 9820 HP:0002650 Scoliosis ORPHANET:2616 CUL7 9820 HP:0100659 Abnormality of the cerebral vasculature ORPHANET:2616 CUL7 9820 HP:0000463 Anteverted nares ORPHANET:2616 CUL7 9820 HP:0004322 Short stature ORPHANET:2616 CUL7 9820 HP:0000307 Pointed chin ORPHANET:2616 CUL7 9820 HP:0000377 Abnormality of the pinna ORPHANET:2616 CUL7 9820 HP:0000343 Long philtrum ORPHANET:2616 CUL7 9820 HP:0000325 Triangular face ORPHANET:2616 CUL7 9820 HP:0001382 Joint hypermobility ORPHANET:2616 CUL7 9820 HP:0002007 Frontal bossing ORPHANET:2616 CUL7 9820 HP:0000337 Broad forehead ORPHANET:2616 CUL7 9820 HP:0000232 Everted lower lip vermilion ORPHANET:2616 CUL7 9820 HP:0000684 Delayed eruption of teeth ORPHANET:2616 CUL7 9820 HP:0002808 Kyphosis ORPHANET:2616 CUL7 9820 HP:0009811 Abnormality of the elbow ORPHANET:2616 CUL7 9820 HP:0100625 Enlarged thorax ORPHANET:2616 CUL7 9820 HP:0000574 Thick eyebrow ORPHANET:2616 CUL7 9820 HP:0000772 Abnormality of the ribs ORPHANET:2616 CUL7 9820 HP:0000470 Short neck ORPHANET:2616 CUL7 9820 HP:0000272 Malar flattening ORPHANET:2616 CUL7 9820 HP:0100627 Displacement of the external urethral meatus ORPHANET:2616 CUL7 9820 HP:0000912 Sprengel anomaly ORPHANET:2616 CUL7 9820 HP:0000944 Abnormality of the metaphyses ORPHANET:2616 CUL7 9820 HP:0001838 Rocker bottom foot ORPHANET:2616 CUL7 9820 HP:0000682 Abnormality of dental enamel ORPHANET:2616 CUL7 9820 HP:0003100 Slender long bone ORPHANET:2616 CUL7 9820 HP:0004209 Clinodactyly of the 5th finger OMIM:601472 GARS 2617 HP:0001265 Hyporeflexia OMIM:601472 GARS 2617 HP:0002936 Distal sensory impairment OMIM:601472 GARS 2617 HP:0003393 Thenar muscle atrophy OMIM:601472 GARS 2617 HP:0003435 Cold-induced hand cramps OMIM:601472 GARS 2617 HP:0003693 Distal amyotrophy OMIM:601472 GARS 2617 HP:0000006 Autosomal dominant inheritance OMIM:601472 GARS 2617 HP:0003392 First dorsal interossei muscle weakness OMIM:601472 GARS 2617 HP:0009129 Upper limb amyotrophy OMIM:601472 GARS 2617 HP:0001765 Hammertoe OMIM:601472 GARS 2617 HP:0001761 Pes cavus OMIM:601472 GARS 2617 HP:0003426 First dorsal interossei muscle atrophy OMIM:601472 GARS 2617 HP:0002650 Scoliosis OMIM:601472 GARS 2617 HP:0003484 Upper limb muscle weakness OMIM:601472 GARS 2617 HP:0003677 Slow progression OMIM:601472 GARS 2617 HP:0003674 Onset OMIM:601472 GARS 2617 HP:0003427 Thenar muscle weakness OMIM:142690 NCSTN 23385 HP:0000006 Autosomal dominant inheritance OMIM:142690 NCSTN 23385 HP:0000987 Atypical scarring of skin OMIM:155310 ACTG2 72 HP:0002251 Aganglionic megacolon OMIM:155310 ACTG2 72 HP:0002014 Diarrhea OMIM:155310 ACTG2 72 HP:0004388 Microcolon OMIM:155310 ACTG2 72 HP:0001798 Anonychia OMIM:155310 ACTG2 72 HP:0000252 Microcephaly OMIM:155310 ACTG2 72 HP:0000347 Micrognathia OMIM:155310 ACTG2 72 HP:0000337 Broad forehead OMIM:155310 ACTG2 72 HP:0010935 Abnormality of the upper urinary tract OMIM:155310 ACTG2 72 HP:0001733 Pancreatitis OMIM:155310 ACTG2 72 HP:0000006 Autosomal dominant inheritance OMIM:155310 ACTG2 72 HP:0000021 Megacystis OMIM:155310 ACTG2 72 HP:0010956 Fetal megacystis OMIM:155310 ACTG2 72 HP:0001561 Polyhydramnios OMIM:155310 ACTG2 72 HP:0003363 Abdominal situs inversus OMIM:155310 ACTG2 72 HP:0000426 Prominent nasal bridge OMIM:155310 ACTG2 72 HP:0004395 Malnutrition OMIM:155310 ACTG2 72 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature OMIM:155310 ACTG2 72 HP:0000463 Anteverted nares OMIM:155310 ACTG2 72 HP:0000774 Narrow chest OMIM:155310 ACTG2 72 HP:0001537 Umbilical hernia OMIM:155310 ACTG2 72 HP:0002013 Vomiting OMIM:155310 ACTG2 72 HP:0000126 Hydronephrosis OMIM:155310 ACTG2 72 HP:0000175 Cleft palate OMIM:155310 ACTG2 72 HP:0002019 Constipation OMIM:155310 ACTG2 72 HP:0100490 Camptodactyly of finger OMIM:155310 ACTG2 72 HP:0000311 Round face OMIM:155310 ACTG2 72 HP:0100867 Duodenal stenosis OMIM:155310 ACTG2 72 HP:0000368 Low-set, posteriorly rotated ears OMIM:155310 ACTG2 72 HP:0000076 Vesicoureteral reflux OMIM:155310 ACTG2 72 HP:0001166 Arachnodactyly OMIM:155310 ACTG2 72 HP:0001376 Limitation of joint mobility OMIM:155310 ACTG2 72 HP:0000843 Hyperparathyroidism OMIM:155310 ACTG2 72 HP:0002015 Dysphagia OMIM:616231 CASQ1 844 HP:0003388 Easy fatigability OMIM:616231 CASQ1 844 HP:0001639 Hypertrophic cardiomyopathy OMIM:616231 CASQ1 844 HP:0001324 Muscle weakness OMIM:616231 CASQ1 844 HP:0003236 Elevated serum creatine phosphokinase OMIM:616231 CASQ1 844 HP:0003394 Muscle cramps OMIM:616231 CASQ1 844 HP:0003326 Myalgia OMIM:614857 ABCD4 5826 HP:0002059 Cerebral atrophy OMIM:614857 ABCD4 5826 HP:0000007 Autosomal recessive inheritance OMIM:614857 ABCD4 5826 HP:0002092 Pulmonary hypertension OMIM:614857 ABCD4 5826 HP:0001631 Defect in the atrial septum OMIM:614857 ABCD4 5826 HP:0001263 Global developmental delay OMIM:614857 ABCD4 5826 HP:0001680 Coarctation of aorta OMIM:614857 ABCD4 5826 HP:0002020 Gastroesophageal reflux OMIM:614857 ABCD4 5826 HP:0002156 Homocystinuria OMIM:614857 ABCD4 5826 HP:0001873 Thrombocytopenia OMIM:614857 ABCD4 5826 HP:0001510 Growth delay OMIM:614857 ABCD4 5826 HP:0002789 Tachypnea OMIM:614857 ABCD4 5826 HP:0000347 Micrognathia OMIM:614857 ABCD4 5826 HP:0002160 Hyperhomocystinemia OMIM:614857 ABCD4 5826 HP:0001875 Neutropenia OMIM:614857 ABCD4 5826 HP:0011968 Feeding difficulties OMIM:614857 ABCD4 5826 HP:0012120 Methylmalonic aciduria OMIM:614857 ABCD4 5826 HP:0003145 Decreased adenosylcobalamin OMIM:614857 ABCD4 5826 HP:0000028 Cryptorchidism OMIM:614857 ABCD4 5826 HP:0000023 Inguinal hernia OMIM:614857 ABCD4 5826 HP:0001254 Lethargy OMIM:614857 ABCD4 5826 HP:0002912 Methylmalonic acidemia OMIM:614857 ABCD4 5826 HP:0001903 Anemia OMIM:614857 ABCD4 5826 HP:0003577 Congenital onset OMIM:614857 ABCD4 5826 HP:0001252 Muscular hypotonia OMIM:614857 ABCD4 5826 HP:0003223 Decreased methylcobalamin OMIM:614857 ABCD4 5826 HP:0006610 Wide intermamillary distance OMIM:614857 ABCD4 5826 HP:0000316 Hypertelorism OMIM:614857 ABCD4 5826 HP:0003524 Decreased methionine synthase activity OMIM:614857 ABCD4 5826 HP:0002533 Abnormal posturing OMIM:609909 PLN 5350 HP:0001644 Dilated cardiomyopathy OMIM:609909 PLN 5350 HP:0004308 Ventricular arrhythmia OMIM:609909 PLN 5350 HP:0006673 Reduced systolic function OMIM:609909 PLN 5350 HP:0000006 Autosomal dominant inheritance OMIM:300448 ATRX 546 HP:0001928 Abnormality of coagulation OMIM:300448 ATRX 546 HP:0011903 Hemoglobin H OMIM:300448 ATRX 546 HP:0002863 Myelodysplasia OMIM:300448 ATRX 546 HP:0000978 Bruising susceptibility OMIM:300448 ATRX 546 HP:0001874 Abnormality of neutrophils OMIM:300448 ATRX 546 HP:0002093 Respiratory insufficiency OMIM:300448 ATRX 546 HP:0001744 Splenomegaly OMIM:300448 ATRX 546 HP:0004840 Hypochromic microcytic anemia OMIM:300448 ATRX 546 HP:0001935 Microcytic anemia OMIM:300448 ATRX 546 HP:0001873 Thrombocytopenia OMIM:300448 ATRX 546 HP:0010978 Abnormality of immune system physiology OMIM:300448 ATRX 546 HP:0002488 Acute leukemia OMIM:300448 ATRX 546 HP:0011907 Reduced alpha/beta synthesis ratio OMIM:614231 IER3IP1 51124 HP:0009879 Cortical gyral simplification OMIM:614231 IER3IP1 51124 HP:0002521 Hypsarrhythmia OMIM:614231 IER3IP1 51124 HP:0000819 Diabetes mellitus OMIM:614231 IER3IP1 51124 HP:0002079 Hypoplasia of the corpus callosum OMIM:614231 IER3IP1 51124 HP:0012448 Delayed myelination OMIM:614231 IER3IP1 51124 HP:0000508 Ptosis OMIM:614231 IER3IP1 51124 HP:0002123 Generalized myoclonic seizures OMIM:614231 IER3IP1 51124 HP:0000135 Hypogonadism OMIM:614231 IER3IP1 51124 HP:0000007 Autosomal recessive inheritance OMIM:614231 IER3IP1 51124 HP:0001252 Muscular hypotonia OMIM:614231 IER3IP1 51124 HP:0001263 Global developmental delay OMIM:614231 IER3IP1 51124 HP:0000252 Microcephaly OMIM:263700 UROS 7390 HP:0001873 Thrombocytopenia OMIM:263700 UROS 7390 HP:0003110 Abnormality of urine homeostasis OMIM:263700 UROS 7390 HP:0000987 Atypical scarring of skin OMIM:263700 UROS 7390 HP:0000938 Osteopenia OMIM:263700 UROS 7390 HP:0001744 Splenomegaly OMIM:263700 UROS 7390 HP:0008066 Abnormal blistering of the skin OMIM:263700 UROS 7390 HP:0001010 Hypopigmentation of the skin OMIM:263700 UROS 7390 HP:0000998 Hypertrichosis OMIM:263700 UROS 7390 HP:0002757 Recurrent fractures OMIM:263700 UROS 7390 HP:0011073 Abnormality of dental color OMIM:263700 UROS 7390 HP:0009473 Joint contracture of the hand OMIM:263700 UROS 7390 HP:0010472 Abnormality of the heme biosynthetic pathway OMIM:263700 UROS 7390 HP:0003577 Congenital onset OMIM:263700 UROS 7390 HP:0004322 Short stature OMIM:263700 UROS 7390 HP:0000953 Hyperpigmentation of the skin OMIM:263700 UROS 7390 HP:0010978 Abnormality of immune system physiology OMIM:263700 UROS 7390 HP:0000153 Abnormality of the mouth OMIM:263700 UROS 7390 HP:0001081 Cholelithiasis OMIM:263700 UROS 7390 HP:0100716 Self-injurious behavior OMIM:263700 UROS 7390 HP:0002953 Vertebral compression fractures OMIM:263700 UROS 7390 HP:0100324 Scleroderma OMIM:263700 UROS 7390 HP:0004349 Reduced bone mineral density OMIM:263700 UROS 7390 HP:0000559 Corneal scarring OMIM:263700 UROS 7390 HP:0000007 Autosomal recessive inheritance OMIM:263700 UROS 7390 HP:0001596 Alopecia OMIM:263700 UROS 7390 HP:0011457 Loss of eyelashes OMIM:263700 UROS 7390 HP:0000992 Cutaneous photosensitivity OMIM:263700 UROS 7390 HP:0001878 Hemolytic anemia OMIM:263700 UROS 7390 HP:0000509 Conjunctivitis OMIM:263700 UROS 7390 HP:0001072 Thickened skin OMIM:263700 UROS 7390 HP:0002797 Osteolysis OMIM:263700 UROS 7390 HP:0002756 Pathologic fracture OMIM:613958 DPY19L2 283417 HP:0000007 Autosomal recessive inheritance OMIM:613958 DPY19L2 283417 HP:0012205 Globozoospermia OMIM:615214 PIK3R1 5295 HP:0002205 Recurrent respiratory infections OMIM:615214 PIK3R1 5295 HP:0003593 Infantile onset OMIM:615214 PIK3R1 5295 HP:0001875 Neutropenia OMIM:615214 PIK3R1 5295 HP:0004432 Agammaglobulinemia OMIM:615214 PIK3R1 5295 HP:0000007 Autosomal recessive inheritance OMIM:154800 KIT 3815 HP:0200151 Cutaneous mastocytosis OMIM:154800 KIT 3815 HP:0001025 Urticaria OMIM:154800 KIT 3815 HP:0004349 Reduced bone mineral density OMIM:154800 KIT 3815 HP:0002757 Recurrent fractures OMIM:154800 KIT 3815 HP:0010829 Impaired temperature sensation OMIM:154800 KIT 3815 HP:0008066 Abnormal blistering of the skin OMIM:154800 KIT 3815 HP:0000246 Sinusitis OMIM:154800 KIT 3815 HP:0001744 Splenomegaly OMIM:154800 KIT 3815 HP:0001034 Hypermelanotic macule OMIM:154800 KIT 3815 HP:0100585 Teleangiectasia of the skin OMIM:154800 KIT 3815 HP:0000006 Autosomal dominant inheritance OMIM:154800 KIT 3815 HP:0002239 Gastrointestinal hemorrhage OMIM:154800 KIT 3815 HP:0002039 Anorexia OMIM:154800 KIT 3815 HP:0000989 Pruritus OMIM:154800 KIT 3815 HP:0100495 Mastocytosis OMIM:154800 KIT 3815 HP:0001645 Sudden cardiac death OMIM:154800 KIT 3815 HP:0100242 Sarcoma OMIM:154800 KIT 3815 HP:0002076 Migraine OMIM:154800 KIT 3815 HP:0002093 Respiratory insufficiency OMIM:154800 KIT 3815 HP:0002017 Nausea and vomiting OMIM:154800 KIT 3815 HP:0010783 Erythema OMIM:154800 KIT 3815 HP:0003072 Hypercalcemia OMIM:154800 KIT 3815 HP:0002014 Diarrhea OMIM:154800 KIT 3815 HP:0007583 Telangiectasia macularis eruptiva perstans OMIM:154800 KIT 3815 HP:0002488 Acute leukemia OMIM:154800 KIT 3815 HP:0002099 Asthma OMIM:154800 KIT 3815 HP:0002615 Hypotension OMIM:154800 KIT 3815 HP:0002240 Hepatomegaly ORPHANET:199 SMC1A 8243 HP:0002983 Micromelia ORPHANET:199 SMC1A 8243 HP:0002167 Neurological speech impairment ORPHANET:199 SMC1A 8243 HP:0002119 Ventriculomegaly ORPHANET:199 SMC1A 8243 HP:0001557 Prenatal movement abnormality ORPHANET:199 SMC1A 8243 HP:0000083 Renal insufficiency ORPHANET:199 SMC1A 8243 HP:0000767 Pectus excavatum ORPHANET:199 SMC1A 8243 HP:0000498 Blepharitis ORPHANET:199 SMC1A 8243 HP:0009830 Peripheral neuropathy ORPHANET:199 SMC1A 8243 HP:0000722 Obsessive-compulsive behavior ORPHANET:199 SMC1A 8243 HP:0100627 Displacement of the external urethral meatus ORPHANET:199 SMC1A 8243 HP:0001631 Defect in the atrial septum ORPHANET:199 SMC1A 8243 HP:0000233 Thin vermilion border ORPHANET:199 SMC1A 8243 HP:0000786 Primary amenorrhea ORPHANET:199 SMC1A 8243 HP:0004322 Short stature ORPHANET:199 SMC1A 8243 HP:0001629 Ventricular septal defect ORPHANET:199 SMC1A 8243 HP:0000003 Multicystic kidney dysplasia ORPHANET:199 SMC1A 8243 HP:0000508 Ptosis ORPHANET:199 SMC1A 8243 HP:0001511 Intrauterine growth retardation ORPHANET:199 SMC1A 8243 HP:0008736 Hypoplasia of penis ORPHANET:199 SMC1A 8243 HP:0005280 Depressed nasal bridge ORPHANET:199 SMC1A 8243 HP:0000453 Choanal atresia ORPHANET:199 SMC1A 8243 HP:0002714 Downturned corners of mouth ORPHANET:199 SMC1A 8243 HP:0001276 Hypertonia ORPHANET:199 SMC1A 8243 HP:0001831 Short toe ORPHANET:199 SMC1A 8243 HP:0000486 Strabismus ORPHANET:199 SMC1A 8243 HP:0001770 Toe syndactyly ORPHANET:199 SMC1A 8243 HP:0001252 Muscular hypotonia ORPHANET:199 SMC1A 8243 HP:0000501 Glaucoma ORPHANET:199 SMC1A 8243 HP:0010880 Increased nuchal translucency ORPHANET:199 SMC1A 8243 HP:0003196 Short nose ORPHANET:199 SMC1A 8243 HP:0000482 Microcornea ORPHANET:199 SMC1A 8243 HP:0000343 Long philtrum ORPHANET:199 SMC1A 8243 HP:0009623 Proximal placement of thumb ORPHANET:199 SMC1A 8243 HP:0002360 Sleep disturbance ORPHANET:199 SMC1A 8243 HP:0001956 Truncal obesity ORPHANET:199 SMC1A 8243 HP:0000684 Delayed eruption of teeth ORPHANET:199 SMC1A 8243 HP:0002974 Radioulnar synostosis ORPHANET:199 SMC1A 8243 HP:0006709 Aplasia/Hypoplasia of the nipples ORPHANET:199 SMC1A 8243 HP:0003042 Elbow dislocation ORPHANET:199 SMC1A 8243 HP:0002566 Intestinal malrotation ORPHANET:199 SMC1A 8243 HP:0002553 Highly arched eyebrow ORPHANET:199 SMC1A 8243 HP:0004279 Short palm ORPHANET:199 SMC1A 8243 HP:0002162 Low posterior hairline ORPHANET:199 SMC1A 8243 HP:0000499 Abnormality of the eyelashes ORPHANET:199 SMC1A 8243 HP:0000545 Myopia ORPHANET:199 SMC1A 8243 HP:0000294 Low anterior hairline ORPHANET:199 SMC1A 8243 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:199 SMC1A 8243 HP:0001250 Seizures ORPHANET:199 SMC1A 8243 HP:0000574 Thick eyebrow ORPHANET:199 SMC1A 8243 HP:0000470 Short neck ORPHANET:199 SMC1A 8243 HP:0000055 Abnormality of female external genitalia ORPHANET:199 SMC1A 8243 HP:0001883 Talipes ORPHANET:199 SMC1A 8243 HP:0001171 Split hand ORPHANET:199 SMC1A 8243 HP:0000175 Cleft palate ORPHANET:199 SMC1A 8243 HP:0003272 Abnormality of the hip bone ORPHANET:199 SMC1A 8243 HP:0004209 Clinodactyly of the 5th finger ORPHANET:199 SMC1A 8243 HP:0000413 Atresia of the external auditory canal ORPHANET:199 SMC1A 8243 HP:0001163 Abnormality of the metacarpal bones ORPHANET:199 SMC1A 8243 HP:0001376 Limitation of joint mobility ORPHANET:199 SMC1A 8243 HP:0002021 Pyloric stenosis ORPHANET:199 SMC1A 8243 HP:0001622 Premature birth ORPHANET:199 SMC1A 8243 HP:0000407 Sensorineural hearing impairment ORPHANET:199 SMC1A 8243 HP:0000463 Anteverted nares ORPHANET:199 SMC1A 8243 HP:0100543 Cognitive impairment ORPHANET:199 SMC1A 8243 HP:0002648 Abnormality of calvarial morphology ORPHANET:199 SMC1A 8243 HP:0000028 Cryptorchidism ORPHANET:199 SMC1A 8243 HP:0000518 Cataract ORPHANET:199 SMC1A 8243 HP:0000664 Synophrys ORPHANET:199 SMC1A 8243 HP:0000639 Nystagmus ORPHANET:199 SMC1A 8243 HP:0000954 Single transverse palmar crease ORPHANET:199 SMC1A 8243 HP:0009804 Reduced number of teeth ORPHANET:199 SMC1A 8243 HP:0000252 Microcephaly ORPHANET:199 SMC1A 8243 HP:0000776 Congenital diaphragmatic hernia ORPHANET:199 SMC1A 8243 HP:0000076 Vesicoureteral reflux ORPHANET:199 SMC1A 8243 HP:0000347 Micrognathia ORPHANET:199 SMC1A 8243 HP:0007018 Attention deficit hyperactivity disorder ORPHANET:199 SMC1A 8243 HP:0002750 Delayed skeletal maturation ORPHANET:199 SMC1A 8243 HP:0000717 Autism ORPHANET:199 SMC1A 8243 HP:0001608 Abnormality of the voice ORPHANET:199 SMC1A 8243 HP:0002580 Volvulus ORPHANET:199 SMC1A 8243 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:199 SMC1A 8243 HP:0000400 Macrotia ORPHANET:199 SMC1A 8243 HP:0000405 Conductive hearing impairment ORPHANET:199 SMC1A 8243 HP:0000965 Cutis marmorata ORPHANET:199 SMC1A 8243 HP:0002120 Cerebral cortical atrophy ORPHANET:199 HDAC8 55869 HP:0002983 Micromelia ORPHANET:199 HDAC8 55869 HP:0002167 Neurological speech impairment ORPHANET:199 HDAC8 55869 HP:0002119 Ventriculomegaly ORPHANET:199 HDAC8 55869 HP:0001557 Prenatal movement abnormality ORPHANET:199 HDAC8 55869 HP:0000083 Renal insufficiency ORPHANET:199 HDAC8 55869 HP:0000767 Pectus excavatum ORPHANET:199 HDAC8 55869 HP:0000498 Blepharitis ORPHANET:199 HDAC8 55869 HP:0009830 Peripheral neuropathy ORPHANET:199 HDAC8 55869 HP:0000722 Obsessive-compulsive behavior ORPHANET:199 HDAC8 55869 HP:0100627 Displacement of the external urethral meatus ORPHANET:199 HDAC8 55869 HP:0001631 Defect in the atrial septum ORPHANET:199 HDAC8 55869 HP:0000233 Thin vermilion border ORPHANET:199 HDAC8 55869 HP:0000786 Primary amenorrhea ORPHANET:199 HDAC8 55869 HP:0004322 Short stature ORPHANET:199 HDAC8 55869 HP:0001629 Ventricular septal defect ORPHANET:199 HDAC8 55869 HP:0000003 Multicystic kidney dysplasia ORPHANET:199 HDAC8 55869 HP:0000508 Ptosis ORPHANET:199 HDAC8 55869 HP:0001511 Intrauterine growth retardation ORPHANET:199 HDAC8 55869 HP:0008736 Hypoplasia of penis ORPHANET:199 HDAC8 55869 HP:0005280 Depressed nasal bridge ORPHANET:199 HDAC8 55869 HP:0000453 Choanal atresia ORPHANET:199 HDAC8 55869 HP:0002714 Downturned corners of mouth ORPHANET:199 HDAC8 55869 HP:0001276 Hypertonia ORPHANET:199 HDAC8 55869 HP:0001831 Short toe ORPHANET:199 HDAC8 55869 HP:0000486 Strabismus ORPHANET:199 HDAC8 55869 HP:0001770 Toe syndactyly ORPHANET:199 HDAC8 55869 HP:0001252 Muscular hypotonia ORPHANET:199 HDAC8 55869 HP:0000501 Glaucoma ORPHANET:199 HDAC8 55869 HP:0010880 Increased nuchal translucency ORPHANET:199 HDAC8 55869 HP:0003196 Short nose ORPHANET:199 HDAC8 55869 HP:0000482 Microcornea ORPHANET:199 HDAC8 55869 HP:0000343 Long philtrum ORPHANET:199 HDAC8 55869 HP:0009623 Proximal placement of thumb ORPHANET:199 HDAC8 55869 HP:0002360 Sleep disturbance ORPHANET:199 HDAC8 55869 HP:0001956 Truncal obesity ORPHANET:199 HDAC8 55869 HP:0000684 Delayed eruption of teeth ORPHANET:199 HDAC8 55869 HP:0002974 Radioulnar synostosis ORPHANET:199 HDAC8 55869 HP:0006709 Aplasia/Hypoplasia of the nipples ORPHANET:199 HDAC8 55869 HP:0003042 Elbow dislocation ORPHANET:199 HDAC8 55869 HP:0002566 Intestinal malrotation ORPHANET:199 HDAC8 55869 HP:0002553 Highly arched eyebrow ORPHANET:199 HDAC8 55869 HP:0004279 Short palm ORPHANET:199 HDAC8 55869 HP:0002162 Low posterior hairline ORPHANET:199 HDAC8 55869 HP:0000499 Abnormality of the eyelashes ORPHANET:199 HDAC8 55869 HP:0000545 Myopia ORPHANET:199 HDAC8 55869 HP:0000294 Low anterior hairline ORPHANET:199 HDAC8 55869 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:199 HDAC8 55869 HP:0001250 Seizures ORPHANET:199 HDAC8 55869 HP:0000574 Thick eyebrow ORPHANET:199 HDAC8 55869 HP:0000470 Short neck ORPHANET:199 HDAC8 55869 HP:0000055 Abnormality of female external genitalia ORPHANET:199 HDAC8 55869 HP:0001883 Talipes ORPHANET:199 HDAC8 55869 HP:0001171 Split hand ORPHANET:199 HDAC8 55869 HP:0000175 Cleft palate ORPHANET:199 HDAC8 55869 HP:0003272 Abnormality of the hip bone ORPHANET:199 HDAC8 55869 HP:0004209 Clinodactyly of the 5th finger ORPHANET:199 HDAC8 55869 HP:0000413 Atresia of the external auditory canal ORPHANET:199 HDAC8 55869 HP:0001163 Abnormality of the metacarpal bones ORPHANET:199 HDAC8 55869 HP:0001376 Limitation of joint mobility ORPHANET:199 HDAC8 55869 HP:0002021 Pyloric stenosis ORPHANET:199 HDAC8 55869 HP:0001622 Premature birth ORPHANET:199 HDAC8 55869 HP:0000407 Sensorineural hearing impairment ORPHANET:199 HDAC8 55869 HP:0000463 Anteverted nares ORPHANET:199 HDAC8 55869 HP:0100543 Cognitive impairment ORPHANET:199 HDAC8 55869 HP:0002648 Abnormality of calvarial morphology ORPHANET:199 HDAC8 55869 HP:0000028 Cryptorchidism ORPHANET:199 HDAC8 55869 HP:0000518 Cataract ORPHANET:199 HDAC8 55869 HP:0000664 Synophrys ORPHANET:199 HDAC8 55869 HP:0000639 Nystagmus ORPHANET:199 HDAC8 55869 HP:0000954 Single transverse palmar crease ORPHANET:199 HDAC8 55869 HP:0009804 Reduced number of teeth ORPHANET:199 HDAC8 55869 HP:0000252 Microcephaly ORPHANET:199 HDAC8 55869 HP:0000776 Congenital diaphragmatic hernia ORPHANET:199 HDAC8 55869 HP:0000076 Vesicoureteral reflux ORPHANET:199 HDAC8 55869 HP:0000347 Micrognathia ORPHANET:199 HDAC8 55869 HP:0007018 Attention deficit hyperactivity disorder ORPHANET:199 HDAC8 55869 HP:0002750 Delayed skeletal maturation ORPHANET:199 HDAC8 55869 HP:0000717 Autism ORPHANET:199 HDAC8 55869 HP:0001608 Abnormality of the voice ORPHANET:199 HDAC8 55869 HP:0002580 Volvulus ORPHANET:199 HDAC8 55869 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:199 HDAC8 55869 HP:0000400 Macrotia ORPHANET:199 HDAC8 55869 HP:0000405 Conductive hearing impairment ORPHANET:199 HDAC8 55869 HP:0000965 Cutis marmorata ORPHANET:199 HDAC8 55869 HP:0002120 Cerebral cortical atrophy ORPHANET:199 SMC3 9126 HP:0002983 Micromelia ORPHANET:199 SMC3 9126 HP:0002167 Neurological speech impairment ORPHANET:199 SMC3 9126 HP:0002119 Ventriculomegaly ORPHANET:199 SMC3 9126 HP:0001557 Prenatal movement abnormality ORPHANET:199 SMC3 9126 HP:0000083 Renal insufficiency ORPHANET:199 SMC3 9126 HP:0000767 Pectus excavatum ORPHANET:199 SMC3 9126 HP:0000498 Blepharitis ORPHANET:199 SMC3 9126 HP:0009830 Peripheral neuropathy ORPHANET:199 SMC3 9126 HP:0000722 Obsessive-compulsive behavior ORPHANET:199 SMC3 9126 HP:0100627 Displacement of the external urethral meatus ORPHANET:199 SMC3 9126 HP:0001631 Defect in the atrial septum ORPHANET:199 SMC3 9126 HP:0000233 Thin vermilion border ORPHANET:199 SMC3 9126 HP:0000786 Primary amenorrhea ORPHANET:199 SMC3 9126 HP:0004322 Short stature ORPHANET:199 SMC3 9126 HP:0001629 Ventricular septal defect ORPHANET:199 SMC3 9126 HP:0000003 Multicystic kidney dysplasia ORPHANET:199 SMC3 9126 HP:0000508 Ptosis ORPHANET:199 SMC3 9126 HP:0001511 Intrauterine growth retardation ORPHANET:199 SMC3 9126 HP:0008736 Hypoplasia of penis ORPHANET:199 SMC3 9126 HP:0005280 Depressed nasal bridge ORPHANET:199 SMC3 9126 HP:0000453 Choanal atresia ORPHANET:199 SMC3 9126 HP:0002714 Downturned corners of mouth ORPHANET:199 SMC3 9126 HP:0001276 Hypertonia ORPHANET:199 SMC3 9126 HP:0001831 Short toe ORPHANET:199 SMC3 9126 HP:0000486 Strabismus ORPHANET:199 SMC3 9126 HP:0001770 Toe syndactyly ORPHANET:199 SMC3 9126 HP:0001252 Muscular hypotonia ORPHANET:199 SMC3 9126 HP:0000501 Glaucoma ORPHANET:199 SMC3 9126 HP:0010880 Increased nuchal translucency ORPHANET:199 SMC3 9126 HP:0003196 Short nose ORPHANET:199 SMC3 9126 HP:0000482 Microcornea ORPHANET:199 SMC3 9126 HP:0000343 Long philtrum ORPHANET:199 SMC3 9126 HP:0009623 Proximal placement of thumb ORPHANET:199 SMC3 9126 HP:0002360 Sleep disturbance ORPHANET:199 SMC3 9126 HP:0001956 Truncal obesity ORPHANET:199 SMC3 9126 HP:0000684 Delayed eruption of teeth ORPHANET:199 SMC3 9126 HP:0002974 Radioulnar synostosis ORPHANET:199 SMC3 9126 HP:0006709 Aplasia/Hypoplasia of the nipples ORPHANET:199 SMC3 9126 HP:0003042 Elbow dislocation ORPHANET:199 SMC3 9126 HP:0002566 Intestinal malrotation ORPHANET:199 SMC3 9126 HP:0002553 Highly arched eyebrow ORPHANET:199 SMC3 9126 HP:0004279 Short palm ORPHANET:199 SMC3 9126 HP:0002162 Low posterior hairline ORPHANET:199 SMC3 9126 HP:0000499 Abnormality of the eyelashes ORPHANET:199 SMC3 9126 HP:0000545 Myopia ORPHANET:199 SMC3 9126 HP:0000294 Low anterior hairline ORPHANET:199 SMC3 9126 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:199 SMC3 9126 HP:0001250 Seizures ORPHANET:199 SMC3 9126 HP:0000574 Thick eyebrow ORPHANET:199 SMC3 9126 HP:0000470 Short neck ORPHANET:199 SMC3 9126 HP:0000055 Abnormality of female external genitalia ORPHANET:199 SMC3 9126 HP:0001883 Talipes ORPHANET:199 SMC3 9126 HP:0001171 Split hand ORPHANET:199 SMC3 9126 HP:0000175 Cleft palate ORPHANET:199 SMC3 9126 HP:0003272 Abnormality of the hip bone ORPHANET:199 SMC3 9126 HP:0004209 Clinodactyly of the 5th finger ORPHANET:199 SMC3 9126 HP:0000413 Atresia of the external auditory canal ORPHANET:199 SMC3 9126 HP:0001163 Abnormality of the metacarpal bones ORPHANET:199 SMC3 9126 HP:0001376 Limitation of joint mobility ORPHANET:199 SMC3 9126 HP:0002021 Pyloric stenosis ORPHANET:199 SMC3 9126 HP:0001622 Premature birth ORPHANET:199 SMC3 9126 HP:0000407 Sensorineural hearing impairment ORPHANET:199 SMC3 9126 HP:0000463 Anteverted nares ORPHANET:199 SMC3 9126 HP:0100543 Cognitive impairment ORPHANET:199 SMC3 9126 HP:0002648 Abnormality of calvarial morphology ORPHANET:199 SMC3 9126 HP:0000028 Cryptorchidism ORPHANET:199 SMC3 9126 HP:0000518 Cataract ORPHANET:199 SMC3 9126 HP:0000664 Synophrys ORPHANET:199 SMC3 9126 HP:0000639 Nystagmus ORPHANET:199 SMC3 9126 HP:0000954 Single transverse palmar crease ORPHANET:199 SMC3 9126 HP:0009804 Reduced number of teeth ORPHANET:199 SMC3 9126 HP:0000252 Microcephaly ORPHANET:199 SMC3 9126 HP:0000776 Congenital diaphragmatic hernia ORPHANET:199 SMC3 9126 HP:0000076 Vesicoureteral reflux ORPHANET:199 SMC3 9126 HP:0000347 Micrognathia ORPHANET:199 SMC3 9126 HP:0007018 Attention deficit hyperactivity disorder ORPHANET:199 SMC3 9126 HP:0002750 Delayed skeletal maturation ORPHANET:199 SMC3 9126 HP:0000717 Autism ORPHANET:199 SMC3 9126 HP:0001608 Abnormality of the voice ORPHANET:199 SMC3 9126 HP:0002580 Volvulus ORPHANET:199 SMC3 9126 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:199 SMC3 9126 HP:0000400 Macrotia ORPHANET:199 SMC3 9126 HP:0000405 Conductive hearing impairment ORPHANET:199 SMC3 9126 HP:0000965 Cutis marmorata ORPHANET:199 SMC3 9126 HP:0002120 Cerebral cortical atrophy ORPHANET:199 NIPBL 25836 HP:0002983 Micromelia ORPHANET:199 NIPBL 25836 HP:0002167 Neurological speech impairment ORPHANET:199 NIPBL 25836 HP:0002119 Ventriculomegaly ORPHANET:199 NIPBL 25836 HP:0001557 Prenatal movement abnormality ORPHANET:199 NIPBL 25836 HP:0000083 Renal insufficiency ORPHANET:199 NIPBL 25836 HP:0000767 Pectus excavatum ORPHANET:199 NIPBL 25836 HP:0000498 Blepharitis ORPHANET:199 NIPBL 25836 HP:0009830 Peripheral neuropathy ORPHANET:199 NIPBL 25836 HP:0000722 Obsessive-compulsive behavior ORPHANET:199 NIPBL 25836 HP:0100627 Displacement of the external urethral meatus ORPHANET:199 NIPBL 25836 HP:0001631 Defect in the atrial septum ORPHANET:199 NIPBL 25836 HP:0000233 Thin vermilion border ORPHANET:199 NIPBL 25836 HP:0000786 Primary amenorrhea ORPHANET:199 NIPBL 25836 HP:0004322 Short stature ORPHANET:199 NIPBL 25836 HP:0001629 Ventricular septal defect ORPHANET:199 NIPBL 25836 HP:0000003 Multicystic kidney dysplasia ORPHANET:199 NIPBL 25836 HP:0000508 Ptosis ORPHANET:199 NIPBL 25836 HP:0001511 Intrauterine growth retardation ORPHANET:199 NIPBL 25836 HP:0008736 Hypoplasia of penis ORPHANET:199 NIPBL 25836 HP:0005280 Depressed nasal bridge ORPHANET:199 NIPBL 25836 HP:0000453 Choanal atresia ORPHANET:199 NIPBL 25836 HP:0002714 Downturned corners of mouth ORPHANET:199 NIPBL 25836 HP:0001276 Hypertonia ORPHANET:199 NIPBL 25836 HP:0001831 Short toe ORPHANET:199 NIPBL 25836 HP:0000486 Strabismus ORPHANET:199 NIPBL 25836 HP:0001770 Toe syndactyly ORPHANET:199 NIPBL 25836 HP:0001252 Muscular hypotonia ORPHANET:199 NIPBL 25836 HP:0000501 Glaucoma ORPHANET:199 NIPBL 25836 HP:0010880 Increased nuchal translucency ORPHANET:199 NIPBL 25836 HP:0003196 Short nose ORPHANET:199 NIPBL 25836 HP:0000482 Microcornea ORPHANET:199 NIPBL 25836 HP:0000343 Long philtrum ORPHANET:199 NIPBL 25836 HP:0009623 Proximal placement of thumb ORPHANET:199 NIPBL 25836 HP:0002360 Sleep disturbance ORPHANET:199 NIPBL 25836 HP:0001956 Truncal obesity ORPHANET:199 NIPBL 25836 HP:0000684 Delayed eruption of teeth ORPHANET:199 NIPBL 25836 HP:0002974 Radioulnar synostosis ORPHANET:199 NIPBL 25836 HP:0006709 Aplasia/Hypoplasia of the nipples ORPHANET:199 NIPBL 25836 HP:0003042 Elbow dislocation ORPHANET:199 NIPBL 25836 HP:0002566 Intestinal malrotation ORPHANET:199 NIPBL 25836 HP:0002553 Highly arched eyebrow ORPHANET:199 NIPBL 25836 HP:0004279 Short palm ORPHANET:199 NIPBL 25836 HP:0002162 Low posterior hairline ORPHANET:199 NIPBL 25836 HP:0000499 Abnormality of the eyelashes ORPHANET:199 NIPBL 25836 HP:0000545 Myopia ORPHANET:199 NIPBL 25836 HP:0000294 Low anterior hairline ORPHANET:199 NIPBL 25836 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:199 NIPBL 25836 HP:0001250 Seizures ORPHANET:199 NIPBL 25836 HP:0000574 Thick eyebrow ORPHANET:199 NIPBL 25836 HP:0000470 Short neck ORPHANET:199 NIPBL 25836 HP:0000055 Abnormality of female external genitalia ORPHANET:199 NIPBL 25836 HP:0001883 Talipes ORPHANET:199 NIPBL 25836 HP:0001171 Split hand ORPHANET:199 NIPBL 25836 HP:0000175 Cleft palate ORPHANET:199 NIPBL 25836 HP:0003272 Abnormality of the hip bone ORPHANET:199 NIPBL 25836 HP:0004209 Clinodactyly of the 5th finger ORPHANET:199 NIPBL 25836 HP:0000413 Atresia of the external auditory canal ORPHANET:199 NIPBL 25836 HP:0001163 Abnormality of the metacarpal bones ORPHANET:199 NIPBL 25836 HP:0001376 Limitation of joint mobility ORPHANET:199 NIPBL 25836 HP:0002021 Pyloric stenosis ORPHANET:199 NIPBL 25836 HP:0001622 Premature birth ORPHANET:199 NIPBL 25836 HP:0000407 Sensorineural hearing impairment ORPHANET:199 NIPBL 25836 HP:0000463 Anteverted nares ORPHANET:199 NIPBL 25836 HP:0100543 Cognitive impairment ORPHANET:199 NIPBL 25836 HP:0002648 Abnormality of calvarial morphology ORPHANET:199 NIPBL 25836 HP:0000028 Cryptorchidism ORPHANET:199 NIPBL 25836 HP:0000518 Cataract ORPHANET:199 NIPBL 25836 HP:0000664 Synophrys ORPHANET:199 NIPBL 25836 HP:0000639 Nystagmus ORPHANET:199 NIPBL 25836 HP:0000954 Single transverse palmar crease ORPHANET:199 NIPBL 25836 HP:0009804 Reduced number of teeth ORPHANET:199 NIPBL 25836 HP:0000252 Microcephaly ORPHANET:199 NIPBL 25836 HP:0000776 Congenital diaphragmatic hernia ORPHANET:199 NIPBL 25836 HP:0000076 Vesicoureteral reflux ORPHANET:199 NIPBL 25836 HP:0000347 Micrognathia ORPHANET:199 NIPBL 25836 HP:0007018 Attention deficit hyperactivity disorder ORPHANET:199 NIPBL 25836 HP:0002750 Delayed skeletal maturation ORPHANET:199 NIPBL 25836 HP:0000717 Autism ORPHANET:199 NIPBL 25836 HP:0001608 Abnormality of the voice ORPHANET:199 NIPBL 25836 HP:0002580 Volvulus ORPHANET:199 NIPBL 25836 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:199 NIPBL 25836 HP:0000400 Macrotia ORPHANET:199 NIPBL 25836 HP:0000405 Conductive hearing impairment ORPHANET:199 NIPBL 25836 HP:0000965 Cutis marmorata ORPHANET:199 NIPBL 25836 HP:0002120 Cerebral cortical atrophy ORPHANET:199 RAD21 5885 HP:0002983 Micromelia ORPHANET:199 RAD21 5885 HP:0002167 Neurological speech impairment ORPHANET:199 RAD21 5885 HP:0002119 Ventriculomegaly ORPHANET:199 RAD21 5885 HP:0001557 Prenatal movement abnormality ORPHANET:199 RAD21 5885 HP:0000083 Renal insufficiency ORPHANET:199 RAD21 5885 HP:0000767 Pectus excavatum ORPHANET:199 RAD21 5885 HP:0000498 Blepharitis ORPHANET:199 RAD21 5885 HP:0009830 Peripheral neuropathy ORPHANET:199 RAD21 5885 HP:0000722 Obsessive-compulsive behavior ORPHANET:199 RAD21 5885 HP:0100627 Displacement of the external urethral meatus ORPHANET:199 RAD21 5885 HP:0001631 Defect in the atrial septum ORPHANET:199 RAD21 5885 HP:0000233 Thin vermilion border ORPHANET:199 RAD21 5885 HP:0000786 Primary amenorrhea ORPHANET:199 RAD21 5885 HP:0004322 Short stature ORPHANET:199 RAD21 5885 HP:0001629 Ventricular septal defect ORPHANET:199 RAD21 5885 HP:0000003 Multicystic kidney dysplasia ORPHANET:199 RAD21 5885 HP:0000508 Ptosis ORPHANET:199 RAD21 5885 HP:0001511 Intrauterine growth retardation ORPHANET:199 RAD21 5885 HP:0008736 Hypoplasia of penis ORPHANET:199 RAD21 5885 HP:0005280 Depressed nasal bridge ORPHANET:199 RAD21 5885 HP:0000453 Choanal atresia ORPHANET:199 RAD21 5885 HP:0002714 Downturned corners of mouth ORPHANET:199 RAD21 5885 HP:0001276 Hypertonia ORPHANET:199 RAD21 5885 HP:0001831 Short toe ORPHANET:199 RAD21 5885 HP:0000486 Strabismus ORPHANET:199 RAD21 5885 HP:0001770 Toe syndactyly ORPHANET:199 RAD21 5885 HP:0001252 Muscular hypotonia ORPHANET:199 RAD21 5885 HP:0000501 Glaucoma ORPHANET:199 RAD21 5885 HP:0010880 Increased nuchal translucency ORPHANET:199 RAD21 5885 HP:0003196 Short nose ORPHANET:199 RAD21 5885 HP:0000482 Microcornea ORPHANET:199 RAD21 5885 HP:0000343 Long philtrum ORPHANET:199 RAD21 5885 HP:0009623 Proximal placement of thumb ORPHANET:199 RAD21 5885 HP:0002360 Sleep disturbance ORPHANET:199 RAD21 5885 HP:0001956 Truncal obesity ORPHANET:199 RAD21 5885 HP:0000684 Delayed eruption of teeth ORPHANET:199 RAD21 5885 HP:0002974 Radioulnar synostosis ORPHANET:199 RAD21 5885 HP:0006709 Aplasia/Hypoplasia of the nipples ORPHANET:199 RAD21 5885 HP:0003042 Elbow dislocation ORPHANET:199 RAD21 5885 HP:0002566 Intestinal malrotation ORPHANET:199 RAD21 5885 HP:0002553 Highly arched eyebrow ORPHANET:199 RAD21 5885 HP:0004279 Short palm ORPHANET:199 RAD21 5885 HP:0002162 Low posterior hairline ORPHANET:199 RAD21 5885 HP:0000499 Abnormality of the eyelashes ORPHANET:199 RAD21 5885 HP:0000545 Myopia ORPHANET:199 RAD21 5885 HP:0000294 Low anterior hairline ORPHANET:199 RAD21 5885 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:199 RAD21 5885 HP:0001250 Seizures ORPHANET:199 RAD21 5885 HP:0000574 Thick eyebrow ORPHANET:199 RAD21 5885 HP:0000470 Short neck ORPHANET:199 RAD21 5885 HP:0000055 Abnormality of female external genitalia ORPHANET:199 RAD21 5885 HP:0001883 Talipes ORPHANET:199 RAD21 5885 HP:0001171 Split hand ORPHANET:199 RAD21 5885 HP:0000175 Cleft palate ORPHANET:199 RAD21 5885 HP:0003272 Abnormality of the hip bone ORPHANET:199 RAD21 5885 HP:0004209 Clinodactyly of the 5th finger ORPHANET:199 RAD21 5885 HP:0000413 Atresia of the external auditory canal ORPHANET:199 RAD21 5885 HP:0001163 Abnormality of the metacarpal bones ORPHANET:199 RAD21 5885 HP:0001376 Limitation of joint mobility ORPHANET:199 RAD21 5885 HP:0002021 Pyloric stenosis ORPHANET:199 RAD21 5885 HP:0001622 Premature birth ORPHANET:199 RAD21 5885 HP:0000407 Sensorineural hearing impairment ORPHANET:199 RAD21 5885 HP:0000463 Anteverted nares ORPHANET:199 RAD21 5885 HP:0100543 Cognitive impairment ORPHANET:199 RAD21 5885 HP:0002648 Abnormality of calvarial morphology ORPHANET:199 RAD21 5885 HP:0000028 Cryptorchidism ORPHANET:199 RAD21 5885 HP:0000518 Cataract ORPHANET:199 RAD21 5885 HP:0000664 Synophrys ORPHANET:199 RAD21 5885 HP:0000639 Nystagmus ORPHANET:199 RAD21 5885 HP:0000954 Single transverse palmar crease ORPHANET:199 RAD21 5885 HP:0009804 Reduced number of teeth ORPHANET:199 RAD21 5885 HP:0000252 Microcephaly ORPHANET:199 RAD21 5885 HP:0000776 Congenital diaphragmatic hernia ORPHANET:199 RAD21 5885 HP:0000076 Vesicoureteral reflux ORPHANET:199 RAD21 5885 HP:0000347 Micrognathia ORPHANET:199 RAD21 5885 HP:0007018 Attention deficit hyperactivity disorder ORPHANET:199 RAD21 5885 HP:0002750 Delayed skeletal maturation ORPHANET:199 RAD21 5885 HP:0000717 Autism ORPHANET:199 RAD21 5885 HP:0001608 Abnormality of the voice ORPHANET:199 RAD21 5885 HP:0002580 Volvulus ORPHANET:199 RAD21 5885 HP:0007360 Aplasia/Hypoplasia of the cerebellum ORPHANET:199 RAD21 5885 HP:0000400 Macrotia ORPHANET:199 RAD21 5885 HP:0000405 Conductive hearing impairment ORPHANET:199 RAD21 5885 HP:0000965 Cutis marmorata ORPHANET:199 RAD21 5885 HP:0002120 Cerebral cortical atrophy OMIM:607677 MPZ 4359 HP:0003484 Upper limb muscle weakness OMIM:607677 MPZ 4359 HP:0000006 Autosomal dominant inheritance OMIM:607677 MPZ 4359 HP:0001761 Pes cavus OMIM:607677 MPZ 4359 HP:0001284 Areflexia OMIM:607677 MPZ 4359 HP:0003693 Distal amyotrophy OMIM:607677 MPZ 4359 HP:0003378 Axonal degeneration/regeneration OMIM:607677 MPZ 4359 HP:0003376 Steppage gait OMIM:607677 MPZ 4359 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:607677 MPZ 4359 HP:0002936 Distal sensory impairment OMIM:607677 MPZ 4359 HP:0002460 Distal muscle weakness OMIM:607677 MPZ 4359 HP:0001265 Hyporeflexia OMIM:229050 SLC46A1 113235 HP:0000007 Autosomal recessive inheritance OMIM:229050 SLC46A1 113235 HP:0001889 Megaloblastic anemia OMIM:229050 SLC46A1 113235 HP:0009830 Peripheral neuropathy OMIM:229050 SLC46A1 113235 HP:0002135 Basal ganglia calcification OMIM:229050 SLC46A1 113235 HP:0001250 Seizures OMIM:229050 SLC46A1 113235 HP:0002017 Nausea and vomiting OMIM:229050 SLC46A1 113235 HP:0000980 Pallor OMIM:229050 SLC46A1 113235 HP:0004851 Folate-responsive megaloblastic anemia OMIM:229050 SLC46A1 113235 HP:0002719 Recurrent infections OMIM:229050 SLC46A1 113235 HP:0000155 Oral ulcer OMIM:229050 SLC46A1 113235 HP:0001873 Thrombocytopenia OMIM:229050 SLC46A1 113235 HP:0002305 Athetosis OMIM:229050 SLC46A1 113235 HP:0001875 Neutropenia OMIM:229050 SLC46A1 113235 HP:0008872 Feeding difficulties in infancy OMIM:229050 SLC46A1 113235 HP:0001252 Muscular hypotonia OMIM:229050 SLC46A1 113235 HP:0000708 Behavioral abnormality OMIM:229050 SLC46A1 113235 HP:0005528 Bone marrow hypocellularity OMIM:229050 SLC46A1 113235 HP:0001251 Ataxia OMIM:229050 SLC46A1 113235 HP:0001879 Abnormality of eosinophils OMIM:229050 SLC46A1 113235 HP:0002205 Recurrent respiratory infections OMIM:229050 SLC46A1 113235 HP:0100543 Cognitive impairment OMIM:229050 SLC46A1 113235 HP:0000737 Irritability OMIM:229050 SLC46A1 113235 HP:0003593 Infantile onset OMIM:229050 SLC46A1 113235 HP:0001882 Leukopenia OMIM:229050 SLC46A1 113235 HP:0003202 Skeletal muscle atrophy OMIM:229050 SLC46A1 113235 HP:0002024 Malabsorption OMIM:229050 SLC46A1 113235 HP:0100825 Cheilitis OMIM:229050 SLC46A1 113235 HP:0002039 Anorexia OMIM:229050 SLC46A1 113235 HP:0002514 Cerebral calcification OMIM:229050 SLC46A1 113235 HP:0000010 Recurrent urinary tract infections OMIM:229050 SLC46A1 113235 HP:0004313 Hypogammaglobulinemia OMIM:229050 SLC46A1 113235 HP:0002014 Diarrhea OMIM:229050 SLC46A1 113235 HP:0001508 Failure to thrive OMIM:229050 SLC46A1 113235 HP:0100660 Dyskinesia OMIM:229050 SLC46A1 113235 HP:0001347 Hyperreflexia OMIM:229050 SLC46A1 113235 HP:0001263 Global developmental delay OMIM:229050 SLC46A1 113235 HP:0001249 Intellectual disability OMIM:229050 SLC46A1 113235 HP:0000206 Glossitis OMIM:148500 RHBDF2 79651 HP:0001604 Vocal cord paresis OMIM:148500 RHBDF2 79651 HP:0001824 Weight loss OMIM:148500 RHBDF2 79651 HP:0002017 Nausea and vomiting OMIM:148500 RHBDF2 79651 HP:0045026 Abnormality of the mediastinum OMIM:148500 RHBDF2 79651 HP:0011459 Esophageal carcinoma OMIM:148500 RHBDF2 79651 HP:0008872 Feeding difficulties in infancy OMIM:148500 RHBDF2 79651 HP:0100751 Esophageal neoplasm OMIM:148500 RHBDF2 79651 HP:0000006 Autosomal dominant inheritance OMIM:148500 RHBDF2 79651 HP:0002242 Abnormality of the intestine OMIM:148500 RHBDF2 79651 HP:0002239 Gastrointestinal hemorrhage OMIM:148500 RHBDF2 79651 HP:0000153 Abnormality of the mouth OMIM:148500 RHBDF2 79651 HP:0100760 Clubbing of toes OMIM:148500 RHBDF2 79651 HP:0001036 Parakeratosis OMIM:148500 RHBDF2 79651 HP:0001541 Ascites OMIM:148500 RHBDF2 79651 HP:0002240 Hepatomegaly OMIM:148500 RHBDF2 79651 HP:0007447 Diffuse palmoplantar hyperkeratosis OMIM:148500 RHBDF2 79651 HP:0000982 Palmoplantar keratoderma OMIM:612643 GJB6 10804 HP:0008615 Adult onset sensorineural hearing impairment OMIM:612643 GJB6 10804 HP:0000006 Autosomal dominant inheritance OMIM:125850 HNF4A 3172 HP:0004904 Maturity-onset diabetes of the young OMIM:125850 HNF4A 3172 HP:0000006 Autosomal dominant inheritance OMIM:143470 CETP 1071 HP:0012184 Hyperalphalipoproteinemia OMIM:143470 CETP 1071 HP:0000006 Autosomal dominant inheritance OMIM:155255 SUFU 51684 HP:0000006 Autosomal dominant inheritance OMIM:155255 SUFU 51684 HP:0002885 Medulloblastoma OMIM:155255 PTCH2 8643 HP:0000006 Autosomal dominant inheritance OMIM:155255 PTCH2 8643 HP:0002885 Medulloblastoma OMIM:613718 MSRB3 253827 HP:0000007 Autosomal recessive inheritance OMIM:613718 MSRB3 253827 HP:0000365 Hearing impairment OMIM:115430 TTR 7276 HP:0012276 Digital flexor tenosynovitis OMIM:115430 TTR 7276 HP:0012185 Constrictive median neuropathy OMIM:115430 TTR 7276 HP:0008326 Vitamin B6 deficiency OMIM:115430 TTR 7276 HP:0000006 Autosomal dominant inheritance OMIM:115430 TTR 7276 HP:0009830 Peripheral neuropathy OMIM:112310 FLNB 2317 HP:0001539 Omphalocele OMIM:112310 FLNB 2317 HP:0000028 Cryptorchidism OMIM:112310 FLNB 2317 HP:0002992 Abnormality of the tibia OMIM:112310 FLNB 2317 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:112310 FLNB 2317 HP:0002990 Fibular aplasia OMIM:112310 FLNB 2317 HP:0000774 Narrow chest OMIM:112310 FLNB 2317 HP:0008824 Hypoplastic iliac body OMIM:112310 FLNB 2317 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature OMIM:112310 FLNB 2317 HP:0005104 Hypoplastic nasal septum OMIM:112310 FLNB 2317 HP:0003974 Absent radius OMIM:112310 FLNB 2317 HP:0000430 Underdeveloped nasal alae OMIM:112310 FLNB 2317 HP:0003063 Abnormality of the humerus OMIM:112310 FLNB 2317 HP:0100569 Abnormal vertebral ossification OMIM:112310 FLNB 2317 HP:0000006 Autosomal dominant inheritance OMIM:112310 FLNB 2317 HP:0009826 Limb undergrowth OMIM:112310 FLNB 2317 HP:0001163 Abnormality of the metacarpal bones OMIM:112310 FLNB 2317 HP:0002997 Abnormality of the ulna OMIM:112310 FLNB 2317 HP:0003510 Severe short stature OMIM:112310 FLNB 2317 HP:0004348 Abnormality of bone mineral density OMIM:112310 FLNB 2317 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:112310 FLNB 2317 HP:0001561 Polyhydramnios OMIM:112310 FLNB 2317 HP:0001789 Hydrops fetalis OMIM:112310 FLNB 2317 HP:0003811 Neonatal death OMIM:112310 FLNB 2317 HP:0000431 Wide nasal bridge OMIM:112310 FLNB 2317 HP:0006101 Finger syndactyly OMIM:112310 FLNB 2317 HP:0002823 Abnormality of the femur OMIM:614728 CEP63 80254 HP:0000252 Microcephaly OMIM:614728 CEP63 80254 HP:0001263 Global developmental delay OMIM:614728 CEP63 80254 HP:0004322 Short stature OMIM:614728 CEP63 80254 HP:0000007 Autosomal recessive inheritance OMIM:614728 CEP63 80254 HP:0000750 Delayed speech and language development OMIM:249270 SLC19A2 10560 HP:0001873 Thrombocytopenia OMIM:249270 SLC19A2 10560 HP:0000648 Optic atrophy OMIM:249270 SLC19A2 10560 HP:0007703 Abnormal retinal pigmentation OMIM:249270 SLC19A2 10560 HP:0004322 Short stature OMIM:249270 SLC19A2 10560 HP:0001263 Global developmental delay OMIM:249270 SLC19A2 10560 HP:0000572 Visual loss OMIM:249270 SLC19A2 10560 HP:0000951 Abnormality of the skin OMIM:249270 SLC19A2 10560 HP:0001297 Stroke OMIM:249270 SLC19A2 10560 HP:0001251 Ataxia OMIM:249270 SLC19A2 10560 HP:0002637 Cerebral ischemia OMIM:249270 SLC19A2 10560 HP:0000819 Diabetes mellitus OMIM:249270 SLC19A2 10560 HP:0001609 Hoarse voice OMIM:249270 SLC19A2 10560 HP:0000007 Autosomal recessive inheritance OMIM:249270 SLC19A2 10560 HP:0000028 Cryptorchidism OMIM:249270 SLC19A2 10560 HP:0001635 Congestive heart failure OMIM:249270 SLC19A2 10560 HP:0000548 Cone-rod dystrophy OMIM:249270 SLC19A2 10560 HP:0000407 Sensorineural hearing impairment OMIM:249270 SLC19A2 10560 HP:0011675 Arrhythmia OMIM:249270 SLC19A2 10560 HP:0001250 Seizures OMIM:249270 SLC19A2 10560 HP:0001696 Situs inversus totalis OMIM:249270 SLC19A2 10560 HP:0001631 Defect in the atrial septum OMIM:249270 SLC19A2 10560 HP:0004860 Thiamine-responsive megaloblastic anemia OMIM:249270 SLC19A2 10560 HP:0002020 Gastroesophageal reflux OMIM:249270 SLC19A2 10560 HP:0001629 Ventricular septal defect OMIM:249270 SLC19A2 10560 HP:0100651 Type I diabetes mellitus OMIM:249270 SLC19A2 10560 HP:0000546 Retinal degeneration OMIM:249270 SLC19A2 10560 HP:0000505 Visual impairment OMIM:249270 SLC19A2 10560 HP:0003355 Aminoaciduria OMIM:249270 SLC19A2 10560 HP:0000639 Nystagmus OMIM:249270 SLC19A2 10560 HP:0001924 Sideroblastic anemia OMIM:249270 SLC19A2 10560 HP:0001972 Macrocytic anemia OMIM:249270 SLC19A2 10560 HP:0004760 Congenital septal defect OMIM:249270 SLC19A2 10560 HP:0001645 Sudden cardiac death OMIM:249270 SLC19A2 10560 HP:0001638 Cardiomyopathy OMIM:222448 LRP2 4036 HP:0009110 Diaphragmatic eventration OMIM:222448 LRP2 4036 HP:0100543 Cognitive impairment OMIM:222448 LRP2 4036 HP:0000256 Macrocephaly OMIM:222448 LRP2 4036 HP:0000520 Proptosis OMIM:222448 LRP2 4036 HP:0000272 Malar flattening OMIM:222448 LRP2 4036 HP:0000368 Low-set, posteriorly rotated ears OMIM:222448 LRP2 4036 HP:0000407 Sensorineural hearing impairment OMIM:222448 LRP2 4036 HP:0002566 Intestinal malrotation OMIM:222448 LRP2 4036 HP:0005574 Non-acidotic proximal tubulopathy OMIM:222448 LRP2 4036 HP:0000260 Wide anterior fontanel OMIM:222448 LRP2 4036 HP:0000518 Cataract OMIM:222448 LRP2 4036 HP:0000545 Myopia OMIM:222448 LRP2 4036 HP:0007370 Aplasia/Hypoplasia of the corpus callosum OMIM:222448 LRP2 4036 HP:0001537 Umbilical hernia OMIM:222448 LRP2 4036 HP:0005280 Depressed nasal bridge OMIM:222448 LRP2 4036 HP:0001629 Ventricular septal defect OMIM:222448 LRP2 4036 HP:0001263 Global developmental delay OMIM:222448 LRP2 4036 HP:0001250 Seizures OMIM:222448 LRP2 4036 HP:0003126 Low-molecular-weight proteinuria OMIM:222448 LRP2 4036 HP:0000505 Visual impairment OMIM:222448 LRP2 4036 HP:0000813 Bicornuate uterus OMIM:222448 LRP2 4036 HP:0000612 Iris coloboma OMIM:222448 LRP2 4036 HP:0000093 Proteinuria OMIM:222448 LRP2 4036 HP:0000541 Retinal detachment OMIM:222448 LRP2 4036 HP:0000494 Downslanted palpebral fissures OMIM:222448 LRP2 4036 HP:0003196 Short nose OMIM:222448 LRP2 4036 HP:0000455 Broad nasal tip OMIM:222448 LRP2 4036 HP:0007676 Hypoplasia of the iris OMIM:222448 LRP2 4036 HP:0009890 High anterior hairline OMIM:222448 LRP2 4036 HP:0001338 Partial agenesis of the corpus callosum OMIM:222448 LRP2 4036 HP:0000008 Abnormality of female internal genitalia OMIM:222448 LRP2 4036 HP:0000776 Congenital diaphragmatic hernia OMIM:222448 LRP2 4036 HP:0000556 Retinal dystrophy OMIM:222448 LRP2 4036 HP:0000529 Progressive visual loss OMIM:222448 LRP2 4036 HP:0001539 Omphalocele OMIM:222448 LRP2 4036 HP:0011800 Midface retrusion OMIM:222448 LRP2 4036 HP:0000358 Posteriorly rotated ears OMIM:222448 LRP2 4036 HP:0000337 Broad forehead OMIM:222448 LRP2 4036 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:222448 LRP2 4036 HP:0000369 Low-set ears OMIM:222448 LRP2 4036 HP:0011003 Severe Myopia OMIM:222448 LRP2 4036 HP:0000007 Autosomal recessive inheritance OMIM:222448 LRP2 4036 HP:0000567 Chorioretinal coloboma OMIM:222448 LRP2 4036 HP:0000316 Hypertelorism OMIM:222448 LRP2 4036 HP:0100876 Infra-orbital crease OMIM:606763 DNAAF3 352909 HP:0000365 Hearing impairment OMIM:606763 DNAAF3 352909 HP:0100582 Nasal polyposis OMIM:606763 DNAAF3 352909 HP:0000007 Autosomal recessive inheritance OMIM:606763 DNAAF3 352909 HP:0000246 Sinusitis OMIM:606763 DNAAF3 352909 HP:0002110 Bronchiectasis OMIM:606763 DNAAF3 352909 HP:0012259 Absent inner and outer dynein arms OMIM:606763 DNAAF3 352909 HP:0003577 Congenital onset OMIM:606763 DNAAF3 352909 HP:0000789 Infertility OMIM:606763 DNAAF3 352909 HP:0001696 Situs inversus totalis OMIM:606763 DNAAF3 352909 HP:0002205 Recurrent respiratory infections OMIM:606763 DNAAF3 352909 HP:0012263 Immotile cilia OMIM:606763 DNAAF3 352909 HP:0012265 Ciliary dyskinesia OMIM:606763 DNAAF3 352909 HP:0002098 Respiratory distress OMIM:606763 DNAAF3 352909 HP:0000388 Otitis media OMIM:300424 OFD1 8481 HP:0000510 Retinitis pigmentosa OMIM:300424 OFD1 8481 HP:0007787 Posterior subcapsular cataract OMIM:300424 OFD1 8481 HP:0001419 X-linked recessive inheritance OMIM:300424 OFD1 8481 HP:0000551 Abnormality of color vision OMIM:113800 KRT1 3848 HP:0000006 Autosomal dominant inheritance OMIM:113800 KRT1 3848 HP:0001019 Erythroderma OMIM:113800 KRT1 3848 HP:0000972 Palmoplantar hyperkeratosis OMIM:113800 KRT1 3848 HP:0008066 Abnormal blistering of the skin OMIM:113800 KRT10 3858 HP:0000006 Autosomal dominant inheritance OMIM:113800 KRT10 3858 HP:0001019 Erythroderma OMIM:113800 KRT10 3858 HP:0000972 Palmoplantar hyperkeratosis OMIM:113800 KRT10 3858 HP:0008066 Abnormal blistering of the skin OMIM:270800 CYP7B1 9420 HP:0001347 Hyperreflexia OMIM:270800 CYP7B1 9420 HP:0003487 Babinski sign OMIM:270800 CYP7B1 9420 HP:0006858 Impaired distal proprioception OMIM:270800 CYP7B1 9420 HP:0000007 Autosomal recessive inheritance OMIM:270800 CYP7B1 9420 HP:0001317 Abnormality of the cerebellum OMIM:270800 CYP7B1 9420 HP:0003676 Progressive disorder OMIM:270800 CYP7B1 9420 HP:0001260 Dysarthria OMIM:270800 CYP7B1 9420 HP:0010550 Paraplegia OMIM:270800 CYP7B1 9420 HP:0000648 Optic atrophy OMIM:270800 CYP7B1 9420 HP:0001761 Pes cavus OMIM:270800 CYP7B1 9420 HP:0007340 Lower limb muscle weakness OMIM:270800 CYP7B1 9420 HP:0001258 Spastic paraplegia OMIM:270800 CYP7B1 9420 HP:0002064 Spastic gait OMIM:270800 CYP7B1 9420 HP:0002166 Impaired vibration sensation in the lower limbs OMIM:270800 CYP7B1 9420 HP:0000020 Urinary incontinence OMIM:608751 MYL3 4634 HP:0006685 Endocardial fibrosis OMIM:608751 MYL3 4634 HP:0001723 Restrictive cardiomyopathy OMIM:608751 MYL3 4634 HP:0000007 Autosomal recessive inheritance OMIM:608751 MYL3 4634 HP:0000006 Autosomal dominant inheritance OMIM:608751 MYL3 4634 HP:0001639 Hypertrophic cardiomyopathy OMIM:615888 RASGRP2 10235 HP:0003010 Prolonged bleeding time OMIM:615888 RASGRP2 10235 HP:0000421 Epistaxis OMIM:615181 B3GALNT2 148789 HP:0001321 Cerebellar hypoplasia OMIM:615181 B3GALNT2 148789 HP:0003560 Muscular dystrophy OMIM:615181 B3GALNT2 148789 HP:0000609 Optic nerve hypoplasia OMIM:615181 B3GALNT2 148789 HP:0000541 Retinal detachment OMIM:615181 B3GALNT2 148789 HP:0006829 Severe muscular hypotonia OMIM:615181 B3GALNT2 148789 HP:0000238 Hydrocephalus OMIM:615181 B3GALNT2 148789 HP:0000545 Myopia OMIM:615181 B3GALNT2 148789 HP:0012110 Hypoplasia of the pons OMIM:615181 B3GALNT2 148789 HP:0003236 Elevated serum creatine phosphokinase OMIM:615181 B3GALNT2 148789 HP:0000007 Autosomal recessive inheritance OMIM:615181 B3GALNT2 148789 HP:0000568 Microphthalmos OMIM:615181 B3GALNT2 148789 HP:0000518 Cataract OMIM:615181 B3GALNT2 148789 HP:0000618 Blindness OMIM:615181 B3GALNT2 148789 HP:0002350 Cerebellar cyst OMIM:615181 B3GALNT2 148789 HP:0007260 Type II lissencephaly OMIM:615181 B3GALNT2 148789 HP:0007033 Cerebellar dysplasia OMIM:615181 B3GALNT2 148789 HP:0001263 Global developmental delay OMIM:615181 B3GALNT2 148789 HP:0002126 Polymicrogyria OMIM:250790 CYB5A 1528 HP:0012119 Methemoglobinemia OMIM:250790 CYB5A 1528 HP:0000037 Male pseudohermaphroditism OMIM:250790 CYB5A 1528 HP:0001939 Abnormality of metabolism/homeostasis OMIM:250790 CYB5A 1528 HP:0000007 Autosomal recessive inheritance OMIM:250790 CYB5A 1528 HP:0000961 Cyanosis OMIM:250790 CYB5A 1528 HP:0003593 Infantile onset OMIM:302650 CDR1 1038 HP:0002715 Abnormality of the immune system OMIM:302650 CDR1 1038 HP:0001417 X-linked inheritance OMIM:302650 CDR1 1038 HP:0000707 Abnormality of the nervous system OMIM:268100 NR2E3 10002 HP:0000007 Autosomal recessive inheritance OMIM:268100 NR2E3 10002 HP:0001146 Pigmentary retinal degeneration OMIM:268100 NR2E3 10002 HP:0040049 Macular edema OMIM:268100 NR2E3 10002 HP:0000550 Abolished electroretinogram (ERG) OMIM:268100 NR2E3 10002 HP:0000655 Vitreoretinal degeneration OMIM:268100 NR2E3 10002 HP:0000518 Cataract OMIM:268100 NR2E3 10002 HP:0000662 Night blindness OMIM:268100 NR2E3 10002 HP:0012047 Hemeralopia OMIM:300210 TSPAN7 7102 HP:0001417 X-linked inheritance OMIM:300210 TSPAN7 7102 HP:0001256 Intellectual disability, mild OMIM:610799 IRAK4 51135 HP:0000007 Autosomal recessive inheritance OMIM:610799 IRAK4 51135 HP:0005366 Recurrent streptococcus pneumoniae infections OMIM:613660 CDHR1 92211 HP:0000007 Autosomal recessive inheritance OMIM:613660 CDHR1 92211 HP:0000529 Progressive visual loss OMIM:613660 CDHR1 92211 HP:0000510 Retinitis pigmentosa OMIM:613660 CDHR1 92211 HP:0000548 Cone-rod dystrophy OMIM:613660 CDHR1 92211 HP:0000613 Photophobia OMIM:613660 CDHR1 92211 HP:0000662 Night blindness OMIM:613660 CDHR1 92211 HP:0000551 Abnormality of color vision OMIM:302200 NHS 4810 HP:0008024 Congenital nuclear cataract OMIM:302200 NHS 4810 HP:0001417 X-linked inheritance OMIM:302200 NHS 4810 HP:0010695 Sutural cataract OMIM:302200 NHS 4810 HP:0001141 Severe visual impairment OMIM:120200 PAX6 5080 HP:0000006 Autosomal dominant inheritance OMIM:120200 PAX6 5080 HP:0007748 Irido-fundal coloboma OMIM:608194 RPGRIP1 57096 HP:0000608 Macular degeneration OMIM:608194 RPGRIP1 57096 HP:0000551 Abnormality of color vision OMIM:608194 RPGRIP1 57096 HP:0007688 Absent rod-and cone-mediated responses on ERG OMIM:608194 RPGRIP1 57096 HP:0000613 Photophobia OMIM:608194 RPGRIP1 57096 HP:0007663 Decreased central vision OMIM:608194 RPGRIP1 57096 HP:0000007 Autosomal recessive inheritance OMIM:608194 RPGRIP1 57096 HP:0000548 Cone-rod dystrophy OMIM:128230 GCH1 2643 HP:0000006 Autosomal dominant inheritance OMIM:128230 GCH1 2643 HP:0001300 Parkinsonism OMIM:128230 GCH1 2643 HP:0002650 Scoliosis OMIM:128230 GCH1 2643 HP:0000473 Torticollis OMIM:128230 GCH1 2643 HP:0001762 Talipes equinovarus OMIM:128230 GCH1 2643 HP:0003487 Babinski sign OMIM:128230 GCH1 2643 HP:0002548 Parkinsonism with favorable response to dopaminergic medication OMIM:128230 GCH1 2643 HP:0002066 Gait ataxia OMIM:128230 GCH1 2643 HP:0002356 Writer's cramp OMIM:128230 GCH1 2643 HP:0002174 Postural tremor OMIM:128230 GCH1 2643 HP:0003812 Phenotypic variability OMIM:128230 GCH1 2643 HP:0001347 Hyperreflexia OMIM:128230 GCH1 2643 HP:0001761 Pes cavus OMIM:128230 GCH1 2643 HP:0000007 Autosomal recessive inheritance OMIM:128230 GCH1 2643 HP:0011463 Childhood onset OMIM:128230 GCH1 2643 HP:0008297 Transient hyperphenylalaninemia OMIM:271665 DDR2 4921 HP:0008873 Disproportionate short-limb short stature OMIM:271665 DDR2 4921 HP:0010655 Epiphyseal stippling OMIM:271665 DDR2 4921 HP:0003196 Short nose OMIM:271665 DDR2 4921 HP:0005462 Calcification of falx cerebri OMIM:271665 DDR2 4921 HP:0003320 C1-C2 subluxation OMIM:271665 DDR2 4921 HP:0001230 Broad metacarpals OMIM:271665 DDR2 4921 HP:0001252 Muscular hypotonia OMIM:271665 DDR2 4921 HP:0003311 Hypoplasia of the odontoid process OMIM:271665 DDR2 4921 HP:0000922 Posterior rib cupping OMIM:271665 DDR2 4921 HP:0000272 Malar flattening OMIM:271665 DDR2 4921 HP:0009164 Abnormal calcification of the carpal bones OMIM:271665 DDR2 4921 HP:0002987 Elbow flexion contracture OMIM:271665 DDR2 4921 HP:0006532 Recurrent pneumonia OMIM:271665 DDR2 4921 HP:0000773 Short ribs OMIM:271665 DDR2 4921 HP:0000926 Platyspondyly OMIM:271665 DDR2 4921 HP:0010049 Short metacarpal OMIM:271665 DDR2 4921 HP:0002979 Bowing of the legs OMIM:271665 DDR2 4921 HP:0000218 High palate OMIM:271665 DDR2 4921 HP:0000316 Hypertelorism OMIM:271665 DDR2 4921 HP:0005280 Depressed nasal bridge OMIM:271665 DDR2 4921 HP:0000347 Micrognathia OMIM:271665 DDR2 4921 HP:0002650 Scoliosis OMIM:271665 DDR2 4921 HP:0002787 Tracheal calcification OMIM:271665 DDR2 4921 HP:0006009 Broad phalanx OMIM:271665 DDR2 4921 HP:0000007 Autosomal recessive inheritance OMIM:271665 DDR2 4921 HP:0005257 Thoracic hypoplasia OMIM:271665 DDR2 4921 HP:0000907 Anterior rib cupping OMIM:271665 DDR2 4921 HP:0000520 Proptosis OMIM:271665 DDR2 4921 HP:0002651 Spondyloepimetaphyseal dysplasia OMIM:271665 DDR2 4921 HP:0006380 Knee flexion contracture OMIM:271665 DDR2 4921 HP:0003396 Syringomyelia OMIM:271665 DDR2 4921 HP:0003467 Atlantoaxial instability OMIM:271665 DDR2 4921 HP:0001840 Metatarsus adductus OMIM:271665 DDR2 4921 HP:0009875 Triangular shaped distal phalanges of the hand OMIM:271665 DDR2 4921 HP:0002007 Frontal bossing OMIM:271665 DDR2 4921 HP:0001263 Global developmental delay OMIM:271665 DDR2 4921 HP:0006600 Progressive calcification of costochondral cartilage OMIM:271665 DDR2 4921 HP:0002983 Micromelia OMIM:271665 DDR2 4921 HP:0002176 Spinal cord compression OMIM:271665 DDR2 4921 HP:0002091 Restrictive lung disease OMIM:271665 DDR2 4921 HP:0003085 Long fibula OMIM:271665 DDR2 4921 HP:0000767 Pectus excavatum OMIM:271665 DDR2 4921 HP:0000464 Abnormality of the neck OMIM:271665 DDR2 4921 HP:0002869 Flared iliac wings OMIM:271665 DDR2 4921 HP:0003026 Short long bone OMIM:271665 DDR2 4921 HP:0030043 Hip Subluxation OMIM:271665 DDR2 4921 HP:0001591 Bell-shaped thorax OMIM:271665 DDR2 4921 HP:0003015 Flared metaphysis OMIM:605724 BRCA2 675 HP:0000957 Cafe-au-lait spot OMIM:605724 BRCA2 675 HP:0001508 Failure to thrive OMIM:605724 BRCA2 675 HP:0002023 Anal atresia OMIM:605724 BRCA2 675 HP:0004808 Acute myeloid leukemia OMIM:605724 BRCA2 675 HP:0009778 Short thumb OMIM:605724 BRCA2 675 HP:0001511 Intrauterine growth retardation OMIM:605724 BRCA2 675 HP:0003221 Chromosomal breakage induced by crosslinking agents OMIM:605724 BRCA2 675 HP:0000007 Autosomal recessive inheritance OMIM:605724 BRCA2 675 HP:0006727 T-cell acute lymphoblastic leukemias OMIM:605724 BRCA2 675 HP:0000252 Microcephaly OMIM:610504 SERPINH1 871 HP:0010982 Polygenic inheritance OMIM:610504 SERPINH1 871 HP:0001788 Premature rupture of membranes OMIM:300623 FMR1 2332 HP:0001300 Parkinsonism OMIM:300623 FMR1 2332 HP:0002506 Diffuse cerebral atrophy OMIM:300623 FMR1 2332 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:300623 FMR1 2332 HP:0000726 Dementia OMIM:300623 FMR1 2332 HP:0001260 Dysarthria OMIM:300623 FMR1 2332 HP:0002067 Bradykinesia OMIM:300623 FMR1 2332 HP:0003581 Adult onset OMIM:300623 FMR1 2332 HP:0000716 Depression OMIM:300623 FMR1 2332 HP:0006886 Impaired distal vibration sensation OMIM:300623 FMR1 2332 HP:0003326 Myalgia OMIM:300623 FMR1 2332 HP:0000802 Impotence OMIM:300623 FMR1 2332 HP:0002080 Intention tremor OMIM:300623 FMR1 2332 HP:0000822 Hypertension OMIM:300623 FMR1 2332 HP:0002174 Postural tremor OMIM:300623 FMR1 2332 HP:0001310 Dysmetria OMIM:300623 FMR1 2332 HP:0008770 Obsessive-compulsive trait OMIM:300623 FMR1 2332 HP:0000821 Hypothyroidism OMIM:300623 FMR1 2332 HP:0002322 Resting tremor OMIM:300623 FMR1 2332 HP:0008872 Feeding difficulties in infancy OMIM:300623 FMR1 2332 HP:0001324 Muscle weakness OMIM:300623 FMR1 2332 HP:0000020 Urinary incontinence OMIM:300623 FMR1 2332 HP:0002607 Bowel incontinence OMIM:300623 FMR1 2332 HP:0008209 Premature ovarian failure OMIM:300623 FMR1 2332 HP:0002354 Memory impairment OMIM:300623 FMR1 2332 HP:0000365 Hearing impairment OMIM:300623 FMR1 2332 HP:0002075 Dysdiadochokinesis OMIM:300623 FMR1 2332 HP:0007010 Poor fine motor coordination OMIM:300623 FMR1 2332 HP:0002270 Abnormality of the autonomic nervous system OMIM:300623 FMR1 2332 HP:0002120 Cerebral cortical atrophy OMIM:300623 FMR1 2332 HP:0001276 Hypertonia OMIM:300623 FMR1 2332 HP:0000739 Anxiety OMIM:300623 FMR1 2332 HP:0002376 Developmental regression OMIM:300623 FMR1 2332 HP:0000639 Nystagmus OMIM:300623 FMR1 2332 HP:0001265 Hyporeflexia OMIM:300623 FMR1 2332 HP:0001272 Cerebellar atrophy OMIM:300623 FMR1 2332 HP:0003401 Paresthesia OMIM:300623 FMR1 2332 HP:0000734 Disinhibition OMIM:300623 FMR1 2332 HP:0002066 Gait ataxia OMIM:300623 FMR1 2332 HP:0002311 Incoordination OMIM:300623 FMR1 2332 HP:0001152 Saccadic smooth pursuit OMIM:300623 FMR1 2332 HP:0001423 X-linked dominant inheritance OMIM:300623 FMR1 2332 HP:0012211 Abnormal renal physiology OMIM:300623 FMR1 2332 HP:0002615 Hypotension OMIM:300623 FMR1 2332 HP:0000298 Mask-like facies OMIM:601539 PEX1 5189 HP:0000510 Retinitis pigmentosa OMIM:601539 PEX1 5189 HP:0000107 Renal cyst OMIM:601539 PEX1 5189 HP:0000750 Delayed speech and language development OMIM:601539 PEX1 5189 HP:0001263 Global developmental delay OMIM:601539 PEX1 5189 HP:0000407 Sensorineural hearing impairment OMIM:601539 PEX1 5189 HP:0010655 Epiphyseal stippling OMIM:601539 PEX1 5189 HP:0000431 Wide nasal bridge OMIM:601539 PEX1 5189 HP:0001250 Seizures OMIM:601539 PEX1 5189 HP:0003159 Hyperoxaluria OMIM:601539 PEX1 5189 HP:0000007 Autosomal recessive inheritance OMIM:601539 PEX1 5189 HP:0002415 Leukodystrophy OMIM:601539 PEX1 5189 HP:0001319 Neonatal hypotonia OMIM:604348 PER2 8864 HP:0000006 Autosomal dominant inheritance OMIM:604348 PER2 8864 HP:0006979 Sleep-wake cycle disturbance OMIM:305600 PORCN 64840 HP:0009381 Short finger OMIM:305600 PORCN 64840 HP:0001161 Hand polydactyly OMIM:305600 PORCN 64840 HP:0000682 Abnormality of dental enamel OMIM:305600 PORCN 64840 HP:0000066 Labial hypoplasia OMIM:305600 PORCN 64840 HP:0000689 Dental malocclusion OMIM:305600 PORCN 64840 HP:0000612 Iris coloboma OMIM:305600 PORCN 64840 HP:0001817 Absent fingernail OMIM:305600 PORCN 64840 HP:0001839 Split foot OMIM:305600 PORCN 64840 HP:0007588 Reticular hyperpigmentation OMIM:305600 PORCN 64840 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:305600 PORCN 64840 HP:0001156 Brachydactyly syndrome OMIM:305600 PORCN 64840 HP:0000528 Anophthalmia OMIM:305600 PORCN 64840 HP:0000526 Aniridia OMIM:305600 PORCN 64840 HP:0001596 Alopecia OMIM:305600 PORCN 64840 HP:0009124 Abnormality of adipose tissue OMIM:305600 PORCN 64840 HP:0000410 Mixed hearing impairment OMIM:305600 PORCN 64840 HP:0000446 Narrow nasal bridge OMIM:305600 PORCN 64840 HP:0000377 Abnormality of the pinna OMIM:305600 PORCN 64840 HP:0000175 Cleft palate OMIM:305600 PORCN 64840 HP:0100543 Cognitive impairment OMIM:305600 PORCN 64840 HP:0000963 Thin skin OMIM:305600 PORCN 64840 HP:0001600 Abnormality of the larynx OMIM:305600 PORCN 64840 HP:0000060 Clitoral hypoplasia OMIM:305600 PORCN 64840 HP:0000772 Abnormality of the ribs OMIM:305600 PORCN 64840 HP:0001162 Postaxial hand polydactyly OMIM:305600 PORCN 64840 HP:0000204 Cleft upper lip OMIM:305600 PORCN 64840 HP:0030037 Bifid ureter OMIM:305600 PORCN 64840 HP:0001802 Absent toenail OMIM:305600 PORCN 64840 HP:0100542 Abnormal localization of kidney OMIM:305600 PORCN 64840 HP:0008070 Sparse hair OMIM:305600 PORCN 64840 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:305600 PORCN 64840 HP:0004334 Dermal atrophy OMIM:305600 PORCN 64840 HP:0001083 Ectopia lentis OMIM:305600 PORCN 64840 HP:0002475 Myelomeningocele OMIM:305600 PORCN 64840 HP:0006101 Finger syndactyly OMIM:305600 PORCN 64840 HP:0009804 Reduced number of teeth OMIM:305600 PORCN 64840 HP:0002027 Abdominal pain OMIM:305600 PORCN 64840 HP:0006638 Midclavicular aplasia OMIM:305600 PORCN 64840 HP:0000677 Oligodontia OMIM:305600 PORCN 64840 HP:0000402 Stenosis of the external auditory canal OMIM:305600 PORCN 64840 HP:0002414 Spina bifida OMIM:305600 PORCN 64840 HP:0008678 Renal hypoplasia/aplasia OMIM:305600 PORCN 64840 HP:0000486 Strabismus OMIM:305600 PORCN 64840 HP:0000324 Facial asymmetry OMIM:305600 PORCN 64840 HP:0002232 Patchy alopecia OMIM:305600 PORCN 64840 HP:0002650 Scoliosis OMIM:305600 PORCN 64840 HP:0005930 Abnormality of epiphysis morphology OMIM:305600 PORCN 64840 HP:0003298 Spina bifida occulta OMIM:305600 PORCN 64840 HP:0000023 Inguinal hernia OMIM:305600 PORCN 64840 HP:0000368 Low-set, posteriorly rotated ears OMIM:305600 PORCN 64840 HP:0000648 Optic atrophy OMIM:305600 PORCN 64840 HP:0045026 Abnormality of the mediastinum OMIM:305600 PORCN 64840 HP:0100585 Teleangiectasia of the skin OMIM:305600 PORCN 64840 HP:0002308 Arnold-Chiari malformation OMIM:305600 PORCN 64840 HP:0010740 Osteopathia striata OMIM:305600 PORCN 64840 HP:0007759 Opacification of the corneal stroma OMIM:305600 PORCN 64840 HP:0000455 Broad nasal tip OMIM:305600 PORCN 64840 HP:0000369 Low-set ears OMIM:305600 PORCN 64840 HP:0001545 Anteriorly placed anus OMIM:305600 PORCN 64840 HP:0010622 Neoplasm of the skeletal system OMIM:305600 PORCN 64840 HP:0007546 Linear hyperpigmentation OMIM:305600 PORCN 64840 HP:0006297 Hypoplasia of dental enamel OMIM:305600 PORCN 64840 HP:0001829 Foot polydactyly OMIM:305600 PORCN 64840 HP:0001537 Umbilical hernia OMIM:305600 PORCN 64840 HP:0000307 Pointed chin OMIM:305600 PORCN 64840 HP:0004930 Abnormality of the pulmonary vasculature OMIM:305600 PORCN 64840 HP:0000567 Chorioretinal coloboma OMIM:305600 PORCN 64840 HP:0001770 Toe syndactyly OMIM:305600 PORCN 64840 HP:0000773 Short ribs OMIM:305600 PORCN 64840 HP:0001643 Patent ductus arteriosus OMIM:305600 PORCN 64840 HP:0000238 Hydrocephalus OMIM:305600 PORCN 64840 HP:0001171 Split hand OMIM:305600 PORCN 64840 HP:0001423 X-linked dominant inheritance OMIM:305600 PORCN 64840 HP:0001629 Ventricular septal defect OMIM:305600 PORCN 64840 HP:0000776 Congenital diaphragmatic hernia OMIM:305600 PORCN 64840 HP:0001034 Hypermelanotic macule OMIM:305600 PORCN 64840 HP:0001540 Diastasis recti OMIM:305600 PORCN 64840 HP:0009803 Short phalanx of finger OMIM:305600 PORCN 64840 HP:0000568 Microphthalmos OMIM:305600 PORCN 64840 HP:0001597 Abnormality of the nail OMIM:305600 PORCN 64840 HP:0010743 Short metatarsal OMIM:305600 PORCN 64840 HP:0000028 Cryptorchidism OMIM:305600 PORCN 64840 HP:0006482 Abnormality of dental morphology OMIM:305600 PORCN 64840 HP:0001274 Agenesis of corpus callosum OMIM:305600 PORCN 64840 HP:0000126 Hydronephrosis OMIM:305600 PORCN 64840 HP:0000639 Nystagmus OMIM:305600 PORCN 64840 HP:0100867 Duodenal stenosis OMIM:305600 PORCN 64840 HP:0002164 Nail dysplasia OMIM:305600 PORCN 64840 HP:0002557 Hypoplastic nipples OMIM:305600 PORCN 64840 HP:0004322 Short stature OMIM:305600 PORCN 64840 HP:0002036 Hiatus hernia OMIM:305600 PORCN 64840 HP:0001849 Oligodactyly (feet) OMIM:305600 PORCN 64840 HP:0000684 Delayed eruption of teeth OMIM:305600 PORCN 64840 HP:0100559 Lower limb asymmetry OMIM:305600 PORCN 64840 HP:0000252 Microcephaly OMIM:305600 PORCN 64840 HP:0000085 Horseshoe kidney OMIM:305600 PORCN 64840 HP:0200043 Verrucae OMIM:305600 PORCN 64840 HP:0001180 Oligodactyly (hands) OMIM:305600 PORCN 64840 HP:0002299 Brittle hair OMIM:305600 PORCN 64840 HP:0001539 Omphalocele OMIM:305600 PORCN 64840 HP:0001249 Intellectual disability OMIM:305600 PORCN 64840 HP:0000073 Ureteral duplication OMIM:305600 PORCN 64840 HP:0006554 Acute hepatic failure OMIM:305600 PORCN 64840 HP:0001388 Joint laxity OMIM:305600 PORCN 64840 HP:0008053 Aplasia/Hypoplasia of the iris OMIM:305600 PORCN 64840 HP:0100490 Camptodactyly of finger OMIM:305600 PORCN 64840 HP:0002558 Supernumerary nipple OMIM:305600 PORCN 64840 HP:0001009 Telangiectasia OMIM:305600 PORCN 64840 HP:0000003 Multicystic kidney dysplasia OMIM:305600 PORCN 64840 HP:0006608 Midclavicular hypoplasia OMIM:305600 PORCN 64840 HP:0100670 Rough bone trabeculation OMIM:305600 PORCN 64840 HP:0001374 Congenital hip dislocation OMIM:305600 PORCN 64840 HP:0002566 Intestinal malrotation OMIM:305600 PORCN 64840 HP:0000889 Abnormality of the clavicle OMIM:305600 PORCN 64840 HP:0010049 Short metacarpal OMIM:305600 PORCN 64840 HP:0003191 Cleft ala nasi OMIM:305600 PORCN 64840 HP:0001139 Choroideremia OMIM:305600 PORCN 64840 HP:0000668 Hypodontia OMIM:305600 PORCN 64840 HP:0000505 Visual impairment OMIM:231670 GCDH 2639 HP:0000235 Abnormality of the fontanelles or cranial sutures OMIM:231670 GCDH 2639 HP:0002007 Frontal bossing OMIM:231670 GCDH 2639 HP:0001946 Ketosis OMIM:231670 GCDH 2639 HP:0000007 Autosomal recessive inheritance OMIM:231670 GCDH 2639 HP:0002179 Opisthotonus OMIM:231670 GCDH 2639 HP:0002072 Chorea OMIM:231670 GCDH 2639 HP:0001252 Muscular hypotonia OMIM:231670 GCDH 2639 HP:0001942 Metabolic acidosis OMIM:231670 GCDH 2639 HP:0002240 Hepatomegaly OMIM:231670 GCDH 2639 HP:0000708 Behavioral abnormality OMIM:231670 GCDH 2639 HP:0001266 Choreoathetosis OMIM:231670 GCDH 2639 HP:0001276 Hypertonia OMIM:231670 GCDH 2639 HP:0002071 Abnormality of extrapyramidal motor function OMIM:231670 GCDH 2639 HP:0000496 Abnormality of eye movement OMIM:231670 GCDH 2639 HP:0002017 Nausea and vomiting OMIM:231670 GCDH 2639 HP:0007105 Infantile encephalopathy OMIM:231670 GCDH 2639 HP:0001288 Gait disturbance OMIM:231670 GCDH 2639 HP:0001999 Abnormal facial shape OMIM:231670 GCDH 2639 HP:0002076 Migraine OMIM:231670 GCDH 2639 HP:0002919 Ketonuria OMIM:231670 GCDH 2639 HP:0001250 Seizures OMIM:231670 GCDH 2639 HP:0012448 Delayed myelination OMIM:231670 GCDH 2639 HP:0003150 Glutaric aciduria OMIM:231670 GCDH 2639 HP:0002321 Vertigo OMIM:231670 GCDH 2639 HP:0001367 Abnormal joint morphology OMIM:231670 GCDH 2639 HP:0001508 Failure to thrive OMIM:231670 GCDH 2639 HP:0002637 Cerebral ischemia OMIM:231670 GCDH 2639 HP:0001332 Dystonia OMIM:231670 GCDH 2639 HP:0003530 Glutaric acidemia OMIM:231670 GCDH 2639 HP:0001943 Hypoglycemia OMIM:231670 GCDH 2639 HP:0001264 Spastic diplegia OMIM:231670 GCDH 2639 HP:0006956 Dilation of lateral ventricles OMIM:231670 GCDH 2639 HP:0002063 Rigidity OMIM:231670 GCDH 2639 HP:0008872 Feeding difficulties in infancy OMIM:231670 GCDH 2639 HP:0004372 Reduced consciousness/confusion OMIM:231670 GCDH 2639 HP:0004374 Hemiplegia/hemiparesis OMIM:231670 GCDH 2639 HP:0002383 Encephalitis OMIM:231670 GCDH 2639 HP:0002167 Neurological speech impairment OMIM:231670 GCDH 2639 HP:0002376 Developmental regression OMIM:231670 GCDH 2639 HP:0002170 Intracranial hemorrhage OMIM:231670 GCDH 2639 HP:0100543 Cognitive impairment OMIM:231670 GCDH 2639 HP:0008046 Abnormality of the retinal vasculature OMIM:231670 GCDH 2639 HP:0006873 Symmetrical progressive peripheral demyelination OMIM:231670 GCDH 2639 HP:0000256 Macrocephaly OMIM:231670 GCDH 2639 HP:0002047 Malignant hyperthermia OMIM:252930 HGSNAT 138050 HP:0002788 Recurrent upper respiratory tract infections OMIM:252930 HGSNAT 138050 HP:0000268 Dolichocephaly OMIM:252930 HGSNAT 138050 HP:0003309 Ovoid thoracolumbar vertebrae OMIM:252930 HGSNAT 138050 HP:0001007 Hirsutism OMIM:252930 HGSNAT 138050 HP:0002240 Hepatomegaly OMIM:252930 HGSNAT 138050 HP:0001507 Growth abnormality OMIM:252930 HGSNAT 138050 HP:0001387 Joint stiffness OMIM:252930 HGSNAT 138050 HP:0001744 Splenomegaly OMIM:252930 HGSNAT 138050 HP:0000280 Coarse facial features OMIM:252930 HGSNAT 138050 HP:0000664 Synophrys OMIM:252930 HGSNAT 138050 HP:0000900 Thickened ribs OMIM:252930 HGSNAT 138050 HP:0001270 Motor delay OMIM:252930 HGSNAT 138050 HP:0003828 Variable expressivity OMIM:252930 HGSNAT 138050 HP:0002751 Kyphoscoliosis OMIM:252930 HGSNAT 138050 HP:0002371 Loss of speech OMIM:252930 HGSNAT 138050 HP:0001670 Asymmetric septal hypertrophy OMIM:252930 HGSNAT 138050 HP:0000365 Hearing impairment OMIM:252930 HGSNAT 138050 HP:0002208 Coarse hair OMIM:252930 HGSNAT 138050 HP:0000232 Everted lower lip vermilion OMIM:252930 HGSNAT 138050 HP:0000943 Dysostosis multiplex OMIM:252930 HGSNAT 138050 HP:0000007 Autosomal recessive inheritance OMIM:252930 HGSNAT 138050 HP:0003653 Cellular metachromasia OMIM:252930 HGSNAT 138050 HP:0001250 Seizures OMIM:252930 HGSNAT 138050 HP:0002015 Dysphagia OMIM:252930 HGSNAT 138050 HP:0002360 Sleep disturbance OMIM:252930 HGSNAT 138050 HP:0002333 Motor deterioration OMIM:252930 HGSNAT 138050 HP:0100790 Hernia OMIM:252930 HGSNAT 138050 HP:0002014 Diarrhea OMIM:252930 HGSNAT 138050 HP:0000250 Dense calvaria OMIM:252930 HGSNAT 138050 HP:0000510 Retinitis pigmentosa OMIM:252930 HGSNAT 138050 HP:0000752 Hyperactivity OMIM:252930 HGSNAT 138050 HP:0001249 Intellectual disability OMIM:252930 HGSNAT 138050 HP:0002159 Heparan sulfate excretion in urine OMIM:612539 SLC33A1 9197 HP:0001324 Muscle weakness OMIM:612539 SLC33A1 9197 HP:0001258 Spastic paraplegia OMIM:612539 SLC33A1 9197 HP:0000006 Autosomal dominant inheritance OMIM:612539 SLC33A1 9197 HP:0002064 Spastic gait OMIM:612539 SLC33A1 9197 HP:0002395 Lower limb hyperreflexia OMIM:612539 SLC33A1 9197 HP:0003202 Skeletal muscle atrophy OMIM:612539 SLC33A1 9197 HP:0003487 Babinski sign OMIM:612539 SLC33A1 9197 HP:0001761 Pes cavus OMIM:612067 PRKRA 8575 HP:0000007 Autosomal recessive inheritance OMIM:612067 PRKRA 8575 HP:0001288 Gait disturbance OMIM:612067 PRKRA 8575 HP:0002062 Morphological abnormality of the pyramidal tract OMIM:612067 PRKRA 8575 HP:0012514 Lower limb pain OMIM:612067 PRKRA 8575 HP:0002015 Dysphagia OMIM:612067 PRKRA 8575 HP:0001260 Dysarthria OMIM:612067 PRKRA 8575 HP:0100543 Cognitive impairment OMIM:612067 PRKRA 8575 HP:0001347 Hyperreflexia OMIM:612067 PRKRA 8575 HP:0002174 Postural tremor OMIM:612067 PRKRA 8575 HP:0001270 Motor delay OMIM:612067 PRKRA 8575 HP:0002544 Retrocollis OMIM:612067 PRKRA 8575 HP:0012049 Laryngeal dystonia OMIM:612067 PRKRA 8575 HP:0002451 Limb dystonia OMIM:612067 PRKRA 8575 HP:0000750 Delayed speech and language development OMIM:612067 PRKRA 8575 HP:0007256 Abnormal pyramidal signs OMIM:612067 PRKRA 8575 HP:0001300 Parkinsonism OMIM:612067 PRKRA 8575 HP:0003676 Progressive disorder OMIM:612067 PRKRA 8575 HP:0002067 Bradykinesia OMIM:612067 PRKRA 8575 HP:0004305 Involuntary movements OMIM:613255 VCL 7414 HP:0002094 Dyspnea OMIM:613255 VCL 7414 HP:0001639 Hypertrophic cardiomyopathy OMIM:611431 SPRED1 161742 HP:0007018 Attention deficit hyperactivity disorder OMIM:611431 SPRED1 161742 HP:0000766 Abnormality of the sternum OMIM:611431 SPRED1 161742 HP:0000347 Micrognathia OMIM:611431 SPRED1 161742 HP:0000997 Axillary freckling OMIM:611431 SPRED1 161742 HP:0000957 Cafe-au-lait spot OMIM:611431 SPRED1 161742 HP:0000325 Triangular face OMIM:611431 SPRED1 161742 HP:0002162 Low posterior hairline OMIM:611431 SPRED1 161742 HP:0001252 Muscular hypotonia OMIM:611431 SPRED1 161742 HP:0000286 Epicanthus OMIM:611431 SPRED1 161742 HP:0001328 Specific learning disability OMIM:611431 SPRED1 161742 HP:0000316 Hypertelorism OMIM:611431 SPRED1 161742 HP:0001012 Multiple lipomas OMIM:611431 SPRED1 161742 HP:0000368 Low-set, posteriorly rotated ears OMIM:611431 SPRED1 161742 HP:0000470 Short neck OMIM:611431 SPRED1 161742 HP:0000218 High palate OMIM:611431 SPRED1 161742 HP:0000494 Downslanted palpebral fissures OMIM:611431 SPRED1 161742 HP:0001067 Neurofibromas OMIM:611431 SPRED1 161742 HP:0000006 Autosomal dominant inheritance OMIM:611431 SPRED1 161742 HP:0000256 Macrocephaly OMIM:611431 SPRED1 161742 HP:0000508 Ptosis OMIM:141749 HBG2 3048 HP:0010472 Abnormality of the heme biosynthetic pathway OMIM:141749 HBG2 3048 HP:0011904 Persistence of hemoglobin F OMIM:141749 HBG2 3048 HP:0000006 Autosomal dominant inheritance OMIM:141749 HBG2 3048 HP:0001935 Microcytic anemia OMIM:141749 HBB 3043 HP:0010472 Abnormality of the heme biosynthetic pathway OMIM:141749 HBB 3043 HP:0011904 Persistence of hemoglobin F OMIM:141749 HBB 3043 HP:0000006 Autosomal dominant inheritance OMIM:141749 HBB 3043 HP:0001935 Microcytic anemia OMIM:141749 HBG1 3047 HP:0010472 Abnormality of the heme biosynthetic pathway OMIM:141749 HBG1 3047 HP:0011904 Persistence of hemoglobin F OMIM:141749 HBG1 3047 HP:0000006 Autosomal dominant inheritance OMIM:141749 HBG1 3047 HP:0001935 Microcytic anemia OMIM:612937 DPM3 54344 HP:0002910 Elevated hepatic transaminases OMIM:612937 DPM3 54344 HP:0001644 Dilated cardiomyopathy OMIM:612937 DPM3 54344 HP:0003805 Rimmed vacuoles OMIM:612937 DPM3 54344 HP:0003642 Type I transferrin isoform profile OMIM:612937 DPM3 54344 HP:0002515 Waddling gait OMIM:612937 DPM3 54344 HP:0001324 Muscle weakness OMIM:612937 DPM3 54344 HP:0000007 Autosomal recessive inheritance OMIM:612937 DPM3 54344 HP:0003557 Increased variability in muscle fiber diameter OMIM:612937 DPM3 54344 HP:0003236 Elevated serum creatine phosphokinase OMIM:614885 PEX13 5194 HP:0000572 Visual loss OMIM:614885 PEX13 5194 HP:0011398 Central hypotonia OMIM:614885 PEX13 5194 HP:0000364 Hearing abnormality OMIM:614885 PEX13 5194 HP:0011968 Feeding difficulties OMIM:614885 PEX13 5194 HP:0001324 Muscle weakness OMIM:614885 PEX13 5194 HP:0011947 Respiratory tract infection OMIM:610168 TGFBR2 7048 HP:0004955 Generalized arterial tortuosity OMIM:610168 TGFBR2 7048 HP:0001156 Brachydactyly syndrome OMIM:610168 TGFBR2 7048 HP:0000006 Autosomal dominant inheritance OMIM:610168 TGFBR2 7048 HP:0001537 Umbilical hernia OMIM:610168 TGFBR2 7048 HP:0001388 Joint laxity OMIM:610168 TGFBR2 7048 HP:0000766 Abnormality of the sternum OMIM:610168 TGFBR2 7048 HP:0001631 Defect in the atrial septum OMIM:610168 TGFBR2 7048 HP:0004954 Descending aortic aneurysm OMIM:610168 TGFBR2 7048 HP:0000520 Proptosis OMIM:610168 TGFBR2 7048 HP:0005182 Bicuspid pulmonary valve OMIM:610168 TGFBR2 7048 HP:0004944 Cerebral aneurysm OMIM:610168 TGFBR2 7048 HP:0005807 Absent distal phalanges OMIM:610168 TGFBR2 7048 HP:0000577 Exotropia OMIM:610168 TGFBR2 7048 HP:0000592 Blue sclerae OMIM:610168 TGFBR2 7048 HP:0000939 Osteoporosis OMIM:610168 TGFBR2 7048 HP:0000023 Inguinal hernia OMIM:610168 TGFBR2 7048 HP:0000272 Malar flattening OMIM:610168 TGFBR2 7048 HP:0001363 Craniosynostosis OMIM:610168 TGFBR2 7048 HP:0001263 Global developmental delay OMIM:610168 TGFBR2 7048 HP:0001762 Talipes equinovarus OMIM:610168 TGFBR2 7048 HP:0100259 Postaxial polydactyly OMIM:610168 TGFBR2 7048 HP:0000316 Hypertelorism OMIM:610168 TGFBR2 7048 HP:0001249 Intellectual disability OMIM:610168 TGFBR2 7048 HP:0001643 Patent ductus arteriosus OMIM:610168 TGFBR2 7048 HP:0000175 Cleft palate OMIM:610168 TGFBR2 7048 HP:0000193 Bifid uvula OMIM:610168 TGFBR2 7048 HP:0012385 Camptodactyly OMIM:610168 TGFBR2 7048 HP:0004937 Pulmonary artery aneurysm OMIM:610168 TGFBR2 7048 HP:0000347 Micrognathia OMIM:610168 TGFBR2 7048 HP:0001166 Arachnodactyly OMIM:610168 TGFBR2 7048 HP:0002308 Arnold-Chiari malformation OMIM:610168 TGFBR2 7048 HP:0001519 Disproportionate tall stature OMIM:610168 TGFBR2 7048 HP:0002631 Ascending aortic aneurysm OMIM:610168 TGFBR2 7048 HP:0001634 Mitral valve prolapse OMIM:610168 TGFBR2 7048 HP:0000238 Hydrocephalus OMIM:610168 TGFBR2 7048 HP:0010648 Dermal translucency OMIM:610168 TGFBR2 7048 HP:0004933 Ascending aortic dissection OMIM:610168 TGFBR2 7048 HP:0000278 Retrognathia OMIM:610168 TGFBR2 7048 HP:0001159 Syndactyly OMIM:610168 TGFBR2 7048 HP:0009473 Joint contracture of the hand OMIM:610168 TGFBR2 7048 HP:0002650 Scoliosis OMIM:610168 TGFBR2 7048 HP:0001647 Bicuspid aortic valve OMIM:616289 ACO2 50 HP:0000505 Visual impairment OMIM:616289 ACO2 50 HP:0000642 Red-green dyschromatopsia OMIM:616289 ACO2 50 HP:0000648 Optic atrophy OMIM:300803 ZNF711 7552 HP:0001417 X-linked inheritance OMIM:300803 ZNF711 7552 HP:0001249 Intellectual disability OMIM:166350 GNAS 2778 HP:0001510 Growth delay OMIM:166350 GNAS 2778 HP:0001376 Limitation of joint mobility OMIM:166350 GNAS 2778 HP:0000006 Autosomal dominant inheritance OMIM:166350 GNAS 2778 HP:0003828 Variable expressivity OMIM:166350 GNAS 2778 HP:0003011 Abnormality of the musculature OMIM:166350 GNAS 2778 HP:0000951 Abnormality of the skin OMIM:166350 GNAS 2778 HP:0100242 Sarcoma OMIM:166350 GNAS 2778 HP:0000828 Abnormality of the parathyroid gland OMIM:166350 GNAS 2778 HP:0001156 Brachydactyly syndrome OMIM:166350 GNAS 2778 HP:0100246 Osteoma OMIM:166350 GNAS 2778 HP:0003593 Infantile onset OMIM:166350 GNAS 2778 HP:0010766 Ectopic calcification OMIM:166350 GNAS 2778 HP:0002758 Osteoarthritis OMIM:166350 GNAS 2778 HP:0001034 Hypermelanotic macule OMIM:166350 GNAS 2778 HP:0002653 Bone pain OMIM:166350 GNAS 2778 HP:0003676 Progressive disorder OMIM:166350 GNAS 2778 HP:0003621 Juvenile onset OMIM:151210 COL2A1 1280 HP:0003175 Hypoplastic ischia OMIM:151210 COL2A1 1280 HP:0003173 Hypoplastic pubic bone OMIM:151210 COL2A1 1280 HP:0005451 Decreased cranial base ossification OMIM:151210 COL2A1 1280 HP:0000368 Low-set, posteriorly rotated ears OMIM:151210 COL2A1 1280 HP:0005280 Depressed nasal bridge OMIM:151210 COL2A1 1280 HP:0000883 Thin ribs OMIM:151210 COL2A1 1280 HP:0004591 Disc-like vertebral bodies OMIM:151210 COL2A1 1280 HP:0004298 Abnormality of the abdominal wall OMIM:151210 COL2A1 1280 HP:0003021 Metaphyseal cupping OMIM:151210 COL2A1 1280 HP:0000946 Hypoplastic ilia OMIM:151210 COL2A1 1280 HP:0003026 Short long bone OMIM:151210 COL2A1 1280 HP:0000774 Narrow chest OMIM:151210 COL2A1 1280 HP:0001163 Abnormality of the metacarpal bones OMIM:151210 COL2A1 1280 HP:0005716 Lethal skeletal dysplasia OMIM:151210 COL2A1 1280 HP:0004322 Short stature OMIM:151210 COL2A1 1280 HP:0000926 Platyspondyly OMIM:151210 COL2A1 1280 HP:0000272 Malar flattening OMIM:151210 COL2A1 1280 HP:0004565 Severe platyspondyly OMIM:151210 COL2A1 1280 HP:0005930 Abnormality of epiphysis morphology OMIM:151210 COL2A1 1280 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:151210 COL2A1 1280 HP:0003180 Flat acetabular roof OMIM:151210 COL2A1 1280 HP:0200083 Severe limb shortening OMIM:151210 COL2A1 1280 HP:0000912 Sprengel anomaly OMIM:151210 COL2A1 1280 HP:0010306 Short thorax OMIM:151210 COL2A1 1280 HP:0000944 Abnormality of the metaphyses OMIM:151210 COL2A1 1280 HP:0008921 Neonatal short-limb short stature OMIM:151210 COL2A1 1280 HP:0002983 Micromelia OMIM:151210 COL2A1 1280 HP:0000006 Autosomal dominant inheritance OMIM:151210 COL2A1 1280 HP:0000470 Short neck OMIM:151210 COL2A1 1280 HP:0001156 Brachydactyly syndrome OMIM:151210 COL2A1 1280 HP:0000256 Macrocephaly OMIM:151210 COL2A1 1280 HP:0000175 Cleft palate OMIM:151210 COL2A1 1280 HP:0001538 Protuberant abdomen OMIM:151210 COL2A1 1280 HP:0000773 Short ribs OMIM:151210 COL2A1 1280 HP:0001831 Short toe OMIM:151210 COL2A1 1280 HP:0001561 Polyhydramnios OMIM:151210 COL2A1 1280 HP:0000280 Coarse facial features OMIM:151210 COL2A1 1280 HP:0009882 Short distal phalanx of finger OMIM:151210 COL2A1 1280 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:151210 COL2A1 1280 HP:0002970 Genu varum OMIM:151210 COL2A1 1280 HP:0001789 Hydrops fetalis OMIM:615398 PIGT 51604 HP:0000164 Abnormality of the teeth OMIM:615398 PIGT 51604 HP:0000107 Renal cyst OMIM:615398 PIGT 51604 HP:0001321 Cerebellar hypoplasia OMIM:615398 PIGT 51604 HP:0000505 Visual impairment OMIM:615398 PIGT 51604 HP:0000121 Nephrocalcinosis OMIM:615398 PIGT 51604 HP:0000486 Strabismus OMIM:615398 PIGT 51604 HP:0000639 Nystagmus OMIM:615398 PIGT 51604 HP:0000194 Open mouth OMIM:615398 PIGT 51604 HP:0005280 Depressed nasal bridge OMIM:615398 PIGT 51604 HP:0003186 Inverted nipples OMIM:615398 PIGT 51604 HP:0001723 Restrictive cardiomyopathy OMIM:615398 PIGT 51604 HP:0003022 Hypoplasia of the ulna OMIM:615398 PIGT 51604 HP:0002150 Hypercalciuria OMIM:615398 PIGT 51604 HP:0000767 Pectus excavatum OMIM:615398 PIGT 51604 HP:0000348 High forehead OMIM:615398 PIGT 51604 HP:0000341 Narrow forehead OMIM:615398 PIGT 51604 HP:0000007 Autosomal recessive inheritance OMIM:615398 PIGT 51604 HP:0000938 Osteopenia OMIM:615398 PIGT 51604 HP:0002353 EEG abnormality OMIM:615398 PIGT 51604 HP:0002650 Scoliosis OMIM:615398 PIGT 51604 HP:0000256 Macrocephaly OMIM:615398 PIGT 51604 HP:0001263 Global developmental delay OMIM:615398 PIGT 51604 HP:0002059 Cerebral atrophy OMIM:615398 PIGT 51604 HP:0000343 Long philtrum OMIM:615398 PIGT 51604 HP:0001520 Large for gestational age OMIM:615398 PIGT 51604 HP:0001643 Patent ductus arteriosus OMIM:615398 PIGT 51604 HP:0001252 Muscular hypotonia OMIM:615398 PIGT 51604 HP:0002750 Delayed skeletal maturation OMIM:615398 PIGT 51604 HP:0000248 Brachycephaly OMIM:615398 PIGT 51604 HP:0003593 Infantile onset OMIM:615398 PIGT 51604 HP:0000540 Hypermetropia OMIM:615398 PIGT 51604 HP:0001250 Seizures OMIM:615398 PIGT 51604 HP:0002002 Deep philtrum OMIM:614976 MEGF8 1954 HP:0000278 Retrognathia OMIM:614976 MEGF8 1954 HP:0000054 Micropenis OMIM:614976 MEGF8 1954 HP:0001696 Situs inversus totalis OMIM:614976 MEGF8 1954 HP:0002007 Frontal bossing OMIM:614976 MEGF8 1954 HP:0006610 Wide intermamillary distance OMIM:614976 MEGF8 1954 HP:0002553 Highly arched eyebrow OMIM:614976 MEGF8 1954 HP:0000243 Trigonocephaly OMIM:614976 MEGF8 1954 HP:0000470 Short neck OMIM:614976 MEGF8 1954 HP:0000535 Sparse eyebrow OMIM:614976 MEGF8 1954 HP:0000049 Shawl scrotum OMIM:614976 MEGF8 1954 HP:0012385 Camptodactyly OMIM:614976 MEGF8 1954 HP:0002557 Hypoplastic nipples OMIM:614976 MEGF8 1954 HP:0000465 Webbed neck OMIM:614976 MEGF8 1954 HP:0000582 Upslanted palpebral fissure OMIM:614976 MEGF8 1954 HP:0000316 Hypertelorism OMIM:614976 MEGF8 1954 HP:0000248 Brachycephaly OMIM:614976 MEGF8 1954 HP:0001156 Brachydactyly syndrome OMIM:614976 MEGF8 1954 HP:0000218 High palate OMIM:614976 MEGF8 1954 HP:0000263 Oxycephaly OMIM:614976 MEGF8 1954 HP:0000973 Cutis laxa OMIM:614976 MEGF8 1954 HP:0000286 Epicanthus OMIM:614976 MEGF8 1954 HP:0001537 Umbilical hernia OMIM:614976 MEGF8 1954 HP:0001513 Obesity OMIM:614976 MEGF8 1954 HP:0000767 Pectus excavatum OMIM:614976 MEGF8 1954 HP:0100258 Preaxial polydactyly OMIM:614976 MEGF8 1954 HP:0005280 Depressed nasal bridge OMIM:614976 MEGF8 1954 HP:0000768 Pectus carinatum OMIM:614976 MEGF8 1954 HP:0000028 Cryptorchidism OMIM:614976 MEGF8 1954 HP:0001762 Talipes equinovarus OMIM:614976 MEGF8 1954 HP:0000463 Anteverted nares OMIM:614976 MEGF8 1954 HP:0000189 Narrow palate OMIM:614976 MEGF8 1954 HP:0000369 Low-set ears OMIM:614976 MEGF8 1954 HP:0002558 Supernumerary nipple OMIM:614976 MEGF8 1954 HP:0001643 Patent ductus arteriosus OMIM:614976 MEGF8 1954 HP:0011304 Broad thumb OMIM:614976 MEGF8 1954 HP:0002812 Coxa vara OMIM:614976 MEGF8 1954 HP:0000411 Protruding ear OMIM:614976 MEGF8 1954 HP:0011800 Midface retrusion OMIM:614976 MEGF8 1954 HP:0010239 Aplasia of the middle phalanx of the hand OMIM:614976 MEGF8 1954 HP:0010554 Cutaneous finger syndactyly OMIM:614976 MEGF8 1954 HP:0100259 Postaxial polydactyly OMIM:614976 MEGF8 1954 HP:0001669 Transposition of the great arteries OMIM:614976 MEGF8 1954 HP:0001631 Defect in the atrial septum OMIM:614976 MEGF8 1954 HP:0000431 Wide nasal bridge OMIM:614976 MEGF8 1954 HP:0000007 Autosomal recessive inheritance OMIM:245150 MGP 4256 HP:0011800 Midface retrusion OMIM:245150 MGP 4256 HP:0000276 Long face OMIM:245150 MGP 4256 HP:0002205 Recurrent respiratory infections OMIM:245150 MGP 4256 HP:0000365 Hearing impairment OMIM:245150 MGP 4256 HP:0006646 Costal cartilage calcification OMIM:245150 MGP 4256 HP:0000272 Malar flattening OMIM:245150 MGP 4256 HP:0004969 Peripheral pulmonary artery stenosis OMIM:245150 MGP 4256 HP:0005280 Depressed nasal bridge OMIM:245150 MGP 4256 HP:0100543 Cognitive impairment OMIM:245150 MGP 4256 HP:0001250 Seizures OMIM:245150 MGP 4256 HP:0000648 Optic atrophy OMIM:245150 MGP 4256 HP:0004971 Pulmonary artery hypoplasia OMIM:245150 MGP 4256 HP:0000340 Sloping forehead OMIM:245150 MGP 4256 HP:0001629 Ventricular septal defect OMIM:245150 MGP 4256 HP:0008065 Aplasia/Hypoplasia of the skin OMIM:245150 MGP 4256 HP:0002002 Deep philtrum OMIM:245150 MGP 4256 HP:0000403 Recurrent otitis media OMIM:245150 MGP 4256 HP:0001611 Nasal speech OMIM:245150 MGP 4256 HP:0002777 Tracheal stenosis OMIM:245150 MGP 4256 HP:0008747 Cartilaginous ossification of larynx OMIM:245150 MGP 4256 HP:0010655 Epiphyseal stippling OMIM:245150 MGP 4256 HP:0005103 Calcification of the auricular cartilage OMIM:245150 MGP 4256 HP:0005268 Spontaneous abortion OMIM:245150 MGP 4256 HP:0009882 Short distal phalanx of finger OMIM:245150 MGP 4256 HP:0000400 Macrotia OMIM:245150 MGP 4256 HP:0006140 Premature fusion of phalangeal epiphyses OMIM:245150 MGP 4256 HP:0011109 Chronic sinusitis OMIM:245150 MGP 4256 HP:0000430 Underdeveloped nasal alae OMIM:245150 MGP 4256 HP:0004322 Short stature OMIM:245150 MGP 4256 HP:0000388 Otitis media OMIM:245150 MGP 4256 HP:0000007 Autosomal recessive inheritance OMIM:245150 MGP 4256 HP:0100593 Calcification of cartilage OMIM:245150 MGP 4256 HP:0000973 Cutis laxa OMIM:245150 MGP 4256 HP:0005275 Cartilaginous ossification of nose OMIM:245150 MGP 4256 HP:0010109 Short hallux OMIM:245150 MGP 4256 HP:0000246 Sinusitis OMIM:245150 MGP 4256 HP:0002092 Pulmonary hypertension OMIM:245150 MGP 4256 HP:0009778 Short thumb OMIM:245150 MGP 4256 HP:0001596 Alopecia OMIM:245150 MGP 4256 HP:0002837 Recurrent bronchitis OMIM:245150 MGP 4256 HP:0001642 Pulmonic stenosis OMIM:245150 MGP 4256 HP:0001507 Growth abnormality OMIM:245150 MGP 4256 HP:0001608 Abnormality of the voice OMIM:245150 MGP 4256 HP:0001256 Intellectual disability, mild OMIM:245150 MGP 4256 HP:0002514 Cerebral calcification OMIM:245150 MGP 4256 HP:0000934 Chondrocalcinosis OMIM:122700 CYP2A6 1548 HP:0001871 Abnormality of blood and blood-forming tissues OMIM:122700 CYP2A6 1548 HP:0001939 Abnormality of metabolism/homeostasis OMIM:122700 CYP2A6 1548 HP:0000006 Autosomal dominant inheritance OMIM:122700 CYP2C9 1559 HP:0001871 Abnormality of blood and blood-forming tissues OMIM:122700 CYP2C9 1559 HP:0001939 Abnormality of metabolism/homeostasis OMIM:122700 CYP2C9 1559 HP:0000006 Autosomal dominant inheritance OMIM:122700 VKORC1 79001 HP:0001871 Abnormality of blood and blood-forming tissues OMIM:122700 VKORC1 79001 HP:0001939 Abnormality of metabolism/homeostasis OMIM:122700 VKORC1 79001 HP:0000006 Autosomal dominant inheritance OMIM:190900 OPN1SW 611 HP:0008275 Abnormal cone-mediated electroretinogram OMIM:190900 OPN1SW 611 HP:0000552 Tritanomaly OMIM:190900 OPN1SW 611 HP:0000006 Autosomal dominant inheritance OMIM:605375 CHRNB2 1141 HP:0001250 Seizures OMIM:605375 CHRNB2 1141 HP:0000006 Autosomal dominant inheritance OMIM:602089 FLT4 2324 HP:0005306 Capillary hemangiomas OMIM:602089 FLT4 2324 HP:0000006 Autosomal dominant inheritance OMIM:602089 KDR 3791 HP:0005306 Capillary hemangiomas OMIM:602089 KDR 3791 HP:0000006 Autosomal dominant inheritance OMIM:608641 GRHL2 79977 HP:0003676 Progressive disorder OMIM:608641 GRHL2 79977 HP:0000006 Autosomal dominant inheritance OMIM:608641 GRHL2 79977 HP:0000407 Sensorineural hearing impairment OMIM:256730 PPT1 5538 HP:0001336 Myoclonus OMIM:256730 PPT1 5538 HP:0002360 Sleep disturbance OMIM:256730 PPT1 5538 HP:0000007 Autosomal recessive inheritance OMIM:256730 PPT1 5538 HP:0002371 Loss of speech OMIM:256730 PPT1 5538 HP:0002059 Cerebral atrophy OMIM:256730 PPT1 5538 HP:0005484 Postnatal microcephaly OMIM:256730 PPT1 5538 HP:0000608 Macular degeneration OMIM:256730 PPT1 5538 HP:0000550 Abolished electroretinogram (ERG) OMIM:256730 PPT1 5538 HP:0002361 Psychomotor deterioration OMIM:256730 PPT1 5538 HP:0000738 Hallucinations OMIM:256730 PPT1 5538 HP:0000618 Blindness OMIM:256730 PPT1 5538 HP:0001251 Ataxia OMIM:256730 PPT1 5538 HP:0000654 Decreased electroretinogram (ERG) amplitude OMIM:256730 PPT1 5538 HP:0000716 Depression OMIM:256730 PPT1 5538 HP:0002353 EEG abnormality OMIM:256730 PPT1 5538 HP:0001249 Intellectual disability OMIM:256730 PPT1 5538 HP:0000529 Progressive visual loss OMIM:256730 PPT1 5538 HP:0003674 Onset OMIM:256730 PPT1 5538 HP:0001250 Seizures OMIM:256730 PPT1 5538 HP:0001939 Abnormality of metabolism/homeostasis OMIM:256730 PPT1 5538 HP:0000648 Optic atrophy OMIM:256730 PPT1 5538 HP:0001371 Flexion contracture OMIM:256730 PPT1 5538 HP:0001257 Spasticity OMIM:256730 PPT1 5538 HP:0001252 Muscular hypotonia OMIM:256730 PPT1 5538 HP:0000253 Progressive microcephaly OMIM:256730 PPT1 5538 HP:0000546 Retinal degeneration OMIM:256730 PPT1 5538 HP:0001263 Global developmental delay OMIM:256730 PPT1 5538 HP:0000737 Irritability OMIM:256730 PPT1 5538 HP:0002074 Increased neuronal autofluorescent lipopigment OMIM:614324 PSMC3IP 29893 HP:0000786 Primary amenorrhea OMIM:614324 PSMC3IP 29893 HP:0000007 Autosomal recessive inheritance ORPHANET:99429 AR 367 HP:0004299 Hernia of the abdominal wall ORPHANET:99429 AR 367 HP:0000771 Gynecomastia ORPHANET:99429 AR 367 HP:0010788 Testicular neoplasm ORPHANET:99429 AR 367 HP:0001337 Tremor ORPHANET:99429 AR 367 HP:0000098 Tall stature ORPHANET:99429 AR 367 HP:0000028 Cryptorchidism ORPHANET:99429 AR 367 HP:0004349 Reduced bone mineral density ORPHANET:99429 AR 367 HP:0000786 Primary amenorrhea ORPHANET:99429 AR 367 HP:0000144 Decreased fertility ORPHANET:99429 AR 367 HP:0011362 Abnormal hair quantity ORPHANET:99429 AR 367 HP:0001371 Flexion contracture ORPHANET:99429 AR 367 HP:0000037 Male pseudohermaphroditism OMIM:610093 VSX2 338917 HP:0000007 Autosomal recessive inheritance OMIM:610093 VSX2 338917 HP:0000568 Microphthalmos OMIM:600802 JAK3 3718 HP:0005214 Intestinal obstruction OMIM:600802 JAK3 3718 HP:0002733 Abnormality of the lymph nodes OMIM:600802 JAK3 3718 HP:0002090 Pneumonia OMIM:600802 JAK3 3718 HP:0001508 Failure to thrive OMIM:600802 JAK3 3718 HP:0002788 Recurrent upper respiratory tract infections OMIM:600802 JAK3 3718 HP:0001287 Meningitis OMIM:600802 JAK3 3718 HP:0000007 Autosomal recessive inheritance OMIM:600802 JAK3 3718 HP:0003139 Panhypogammaglobulinemia OMIM:600802 JAK3 3718 HP:0004430 Severe combined immunodeficiency OMIM:600802 JAK3 3718 HP:0002014 Diarrhea OMIM:600802 JAK3 3718 HP:0002965 Cutaneous anergy OMIM:613834 ACTA2 59 HP:0000006 Autosomal dominant inheritance OMIM:613834 ACTA2 59 HP:0002789 Tachypnea OMIM:613834 ACTA2 59 HP:0001643 Patent ductus arteriosus OMIM:613834 ACTA2 59 HP:0000028 Cryptorchidism OMIM:613834 ACTA2 59 HP:0011499 Mydriasis OMIM:613834 ACTA2 59 HP:0002566 Intestinal malrotation OMIM:613834 ACTA2 59 HP:0012727 Thoracic aortic aneurysm OMIM:613834 ACTA2 59 HP:0007866 Focal retinal infarction OMIM:613834 ACTA2 59 HP:0004944 Cerebral aneurysm OMIM:613834 ACTA2 59 HP:0100770 Hyperperistalsis OMIM:613834 ACTA2 59 HP:0002092 Pulmonary hypertension OMIM:610359 SNRNP200 23020 HP:0007737 Bony spicule pigmentary retinopathy OMIM:610359 SNRNP200 23020 HP:0000006 Autosomal dominant inheritance OMIM:610359 SNRNP200 23020 HP:0000543 Optic disc pallor OMIM:610359 SNRNP200 23020 HP:0000505 Visual impairment OMIM:610359 SNRNP200 23020 HP:0000662 Night blindness OMIM:610359 SNRNP200 23020 HP:0007698 Retinal pigment epithelial atrophy OMIM:610359 SNRNP200 23020 HP:0000510 Retinitis pigmentosa OMIM:610359 SNRNP200 23020 HP:0007843 Attenuation of retinal blood vessels OMIM:300863 HDAC6 10013 HP:0000926 Platyspondyly OMIM:300863 HDAC6 10013 HP:0007360 Aplasia/Hypoplasia of the cerebellum OMIM:300863 HDAC6 10013 HP:0000238 Hydrocephalus OMIM:300863 HDAC6 10013 HP:0000568 Microphthalmos OMIM:300863 HDAC6 10013 HP:0001831 Short toe OMIM:300863 HDAC6 10013 HP:0003196 Short nose OMIM:300863 HDAC6 10013 HP:0002866 Hypoplastic iliac wing OMIM:300863 HDAC6 10013 HP:0000154 Wide mouth OMIM:300863 HDAC6 10013 HP:0002652 Skeletal dysplasia OMIM:300863 HDAC6 10013 HP:0001511 Intrauterine growth retardation OMIM:300863 HDAC6 10013 HP:0006402 Distal shortening of limbs OMIM:300863 HDAC6 10013 HP:0006028 Metaphyseal cupping of metacarpals OMIM:300863 HDAC6 10013 HP:0004331 Decreased skull ossification OMIM:300863 HDAC6 10013 HP:0000347 Micrognathia OMIM:300863 HDAC6 10013 HP:0002007 Frontal bossing OMIM:300863 HDAC6 10013 HP:0000457 Depressed nasal ridge OMIM:300863 HDAC6 10013 HP:0006208 Metaphyseal cupping of proximal phalanges OMIM:300863 HDAC6 10013 HP:0003028 Abnormality of the ankles OMIM:300863 HDAC6 10013 HP:0000883 Thin ribs OMIM:300863 HDAC6 10013 HP:0000256 Macrocephaly OMIM:300863 HDAC6 10013 HP:0000962 Hyperkeratosis OMIM:300863 HDAC6 10013 HP:0001423 X-linked dominant inheritance OMIM:300863 HDAC6 10013 HP:0100555 Asymmetric growth OMIM:300863 HDAC6 10013 HP:0008905 Rhizomelia OMIM:300863 HDAC6 10013 HP:0000322 Short philtrum OMIM:300863 HDAC6 10013 HP:0002644 Abnormality of pelvic girdle bone morphology OMIM:300863 HDAC6 10013 HP:0000878 11 pairs of ribs OMIM:300863 HDAC6 10013 HP:0001249 Intellectual disability OMIM:300863 HDAC6 10013 HP:0012789 Hypoplasia of the calcaneus OMIM:300863 HDAC6 10013 HP:0100543 Cognitive impairment OMIM:300863 HDAC6 10013 HP:0009826 Limb undergrowth OMIM:300863 HDAC6 10013 HP:0004322 Short stature OMIM:300863 HDAC6 10013 HP:0000368 Low-set, posteriorly rotated ears OMIM:300863 HDAC6 10013 HP:0001163 Abnormality of the metacarpal bones OMIM:300863 HDAC6 10013 HP:0001156 Brachydactyly syndrome OMIM:614331 TGFBR2 7048 HP:0006716 Hereditary nonpolyposis colorectal carcinoma OMIM:614331 TGFBR2 7048 HP:0000006 Autosomal dominant inheritance OMIM:155950 LEMD3 23592 HP:0100784 Peripheral arteriovenous fistula OMIM:155950 LEMD3 23592 HP:0000987 Atypical scarring of skin OMIM:155950 LEMD3 23592 HP:0100559 Lower limb asymmetry OMIM:155950 LEMD3 23592 HP:0011001 Increased bone mineral density OMIM:155950 LEMD3 23592 HP:0002829 Arthralgia OMIM:155950 LEMD3 23592 HP:0001072 Thickened skin OMIM:155950 LEMD3 23592 HP:0001369 Arthritis OMIM:155950 LEMD3 23592 HP:0001376 Limitation of joint mobility OMIM:155950 LEMD3 23592 HP:0000934 Chondrocalcinosis OMIM:155950 LEMD3 23592 HP:0002652 Skeletal dysplasia OMIM:155950 LEMD3 23592 HP:0002653 Bone pain OMIM:155950 LEMD3 23592 HP:0001004 Lymphedema OMIM:155950 LEMD3 23592 HP:0003676 Progressive disorder OMIM:155950 LEMD3 23592 HP:0100774 Hyperostosis OMIM:155950 LEMD3 23592 HP:0003202 Skeletal muscle atrophy OMIM:155950 LEMD3 23592 HP:0006824 Cranial nerve paralysis OMIM:155755 CDKN2A 1029 HP:0000006 Autosomal dominant inheritance OMIM:155755 CDKN2A 1029 HP:0002885 Medulloblastoma OMIM:155755 CDKN2A 1029 HP:0009592 Astrocytoma OMIM:155755 CDKN2A 1029 HP:0002858 Meningioma OMIM:155755 CDKN2A 1029 HP:0012056 Cutaneous melanoma OMIM:609040 PKP2 5318 HP:0011663 Right ventricular cardiomyopathy OMIM:609040 PKP2 5318 HP:0006698 Ventricular aneurysm OMIM:609040 PKP2 5318 HP:0004308 Ventricular arrhythmia OMIM:609040 PKP2 5318 HP:0001645 Sudden cardiac death OMIM:609040 PKP2 5318 HP:0000006 Autosomal dominant inheritance OMIM:609040 PKP2 5318 HP:0002617 Aneurysm OMIM:609040 PKP2 5318 HP:0001279 Syncope OMIM:609040 PKP2 5318 HP:0001962 Palpitations OMIM:175780 COL4A1 1282 HP:0010636 Schizencephaly OMIM:175780 COL4A1 1282 HP:0001257 Spasticity OMIM:175780 COL4A1 1282 HP:0002301 Hemiplegia OMIM:175780 COL4A1 1282 HP:0002273 Tetraparesis OMIM:175780 COL4A1 1282 HP:0001123 Visual field defect OMIM:175780 COL4A1 1282 HP:0001249 Intellectual disability OMIM:175780 COL4A1 1282 HP:0001250 Seizures OMIM:175780 COL4A1 1282 HP:0002140 Ischemic stroke OMIM:175780 COL4A1 1282 HP:0000006 Autosomal dominant inheritance OMIM:175780 COL4A1 1282 HP:0003828 Variable expressivity OMIM:175780 COL4A1 1282 HP:0000238 Hydrocephalus OMIM:175780 COL4A1 1282 HP:0002352 Leukoencephalopathy OMIM:175780 COL4A1 1282 HP:0003487 Babinski sign OMIM:175780 COL4A1 1282 HP:0000577 Exotropia OMIM:175780 COL4A1 1282 HP:0002132 Porencephaly OMIM:175780 COL4A1 1282 HP:0001878 Hemolytic anemia OMIM:175780 COL4A1 1282 HP:0003236 Elevated serum creatine phosphokinase OMIM:175780 COL4A1 1282 HP:0002451 Limb dystonia OMIM:175780 COL4A1 1282 HP:0001272 Cerebellar atrophy OMIM:258860 TCTN3 26123 HP:0002564 Malformation of the heart and great vessels OMIM:258860 TCTN3 26123 HP:0002970 Genu varum OMIM:258860 TCTN3 26123 HP:0005736 Short tibia OMIM:258860 TCTN3 26123 HP:0006703 Aplasia/Hypoplasia of the lungs OMIM:258860 TCTN3 26123 HP:0100543 Cognitive impairment OMIM:258860 TCTN3 26123 HP:0011039 Abnormality of the helix OMIM:258860 TCTN3 26123 HP:0001601 Laryngomalacia OMIM:258860 TCTN3 26123 HP:0002983 Micromelia OMIM:258860 TCTN3 26123 HP:0003196 Short nose OMIM:258860 TCTN3 26123 HP:0000316 Hypertelorism OMIM:258860 TCTN3 26123 HP:0009381 Short finger OMIM:258860 TCTN3 26123 HP:0001511 Intrauterine growth retardation OMIM:258860 TCTN3 26123 HP:0000191 Accessory oral frenulum OMIM:258860 TCTN3 26123 HP:0000175 Cleft palate OMIM:258860 TCTN3 26123 HP:0000767 Pectus excavatum OMIM:258860 TCTN3 26123 HP:0000007 Autosomal recessive inheritance OMIM:258860 TCTN3 26123 HP:0000520 Proptosis OMIM:258860 TCTN3 26123 HP:0002120 Cerebral cortical atrophy OMIM:258860 TCTN3 26123 HP:0001373 Joint dislocation OMIM:258860 TCTN3 26123 HP:0000180 Lobulated tongue OMIM:258860 TCTN3 26123 HP:0000347 Micrognathia OMIM:258860 TCTN3 26123 HP:0000405 Conductive hearing impairment OMIM:258860 TCTN3 26123 HP:0000368 Low-set, posteriorly rotated ears OMIM:258860 TCTN3 26123 HP:0001177 Preaxial hand polydactyly OMIM:258860 TCTN3 26123 HP:0100490 Camptodactyly of finger OMIM:258860 TCTN3 26123 HP:0001770 Toe syndactyly OMIM:258860 TCTN3 26123 HP:0000453 Choanal atresia OMIM:258860 TCTN3 26123 HP:0030084 Clinodactyly OMIM:258860 TCTN3 26123 HP:0006101 Finger syndactyly OMIM:258860 TCTN3 26123 HP:0008678 Renal hypoplasia/aplasia OMIM:258860 TCTN3 26123 HP:0000457 Depressed nasal ridge OMIM:258860 TCTN3 26123 HP:0001562 Oligohydramnios OMIM:258860 TCTN3 26123 HP:0001156 Brachydactyly syndrome OMIM:258860 TCTN3 26123 HP:0001829 Foot polydactyly OMIM:258860 TCTN3 26123 HP:0008207 Primary adrenal insufficiency OMIM:258860 TCTN3 26123 HP:0000161 Median cleft lip OMIM:258860 TCTN3 26123 HP:0100589 Urogenital fistula OMIM:258860 TCTN3 26123 HP:0000496 Abnormality of eye movement OMIM:258860 TCTN3 26123 HP:0004322 Short stature OMIM:258860 TCTN3 26123 HP:0000218 High palate OMIM:258860 TCTN3 26123 HP:0011802 Hamartoma of tongue OMIM:258860 TCTN3 26123 HP:0000286 Epicanthus OMIM:258860 TCTN3 26123 HP:0002132 Porencephaly OMIM:258860 TCTN3 26123 HP:0000199 Tongue nodules OMIM:258860 TCTN3 26123 HP:0002205 Recurrent respiratory infections OMIM:258860 TCTN3 26123 HP:0000252 Microcephaly OMIM:258860 TCTN3 26123 HP:0001162 Postaxial hand polydactyly OMIM:258860 TCTN3 26123 HP:0000322 Short philtrum OMIM:258860 TCTN3 26123 HP:0000035 Abnormality of the testis OMIM:258860 TCTN3 26123 HP:0001800 Hypoplastic toenails OMIM:604377 SCO2 9997 HP:0001522 Death in infancy OMIM:604377 SCO2 9997 HP:0001639 Hypertrophic cardiomyopathy OMIM:604377 SCO2 9997 HP:0002151 Increased serum lactate OMIM:604377 SCO2 9997 HP:0003577 Congenital onset OMIM:604377 SCO2 9997 HP:0008872 Feeding difficulties in infancy OMIM:604377 SCO2 9997 HP:0001252 Muscular hypotonia OMIM:604377 SCO2 9997 HP:0000007 Autosomal recessive inheritance OMIM:604377 SCO2 9997 HP:0002529 Neuronal loss in central nervous system OMIM:604377 SCO2 9997 HP:0003128 Lactic acidosis OMIM:604377 SCO2 9997 HP:0006999 Basal ganglia gliosis OMIM:604377 SCO2 9997 HP:0002880 Respiratory difficulties OMIM:604377 SCO2 9997 HP:0007941 Limited extraocular movements OMIM:604377 SCO2 9997 HP:0002490 Increased CSF lactate OMIM:604377 SCO2 9997 HP:0001263 Global developmental delay OMIM:606777 SLC2A1 6513 HP:0003812 Phenotypic variability OMIM:606777 SLC2A1 6513 HP:0001249 Intellectual disability OMIM:606777 SLC2A1 6513 HP:0000007 Autosomal recessive inheritance OMIM:606777 SLC2A1 6513 HP:0002360 Sleep disturbance OMIM:606777 SLC2A1 6513 HP:0000006 Autosomal dominant inheritance OMIM:606777 SLC2A1 6513 HP:0001250 Seizures OMIM:606777 SLC2A1 6513 HP:0001328 Specific learning disability OMIM:606777 SLC2A1 6513 HP:0001347 Hyperreflexia OMIM:606777 SLC2A1 6513 HP:0002268 Paroxysmal dystonia OMIM:606777 SLC2A1 6513 HP:0011973 Paroxysmal lethargy OMIM:606777 SLC2A1 6513 HP:0005484 Postnatal microcephaly OMIM:606777 SLC2A1 6513 HP:0001266 Choreoathetosis OMIM:606777 SLC2A1 6513 HP:0007704 Paroxysmal involuntary eye movements OMIM:606777 SLC2A1 6513 HP:0011972 Hypoglycorrhachia OMIM:606777 SLC2A1 6513 HP:0001269 Hemiparesis OMIM:606777 SLC2A1 6513 HP:0001336 Myoclonus OMIM:606777 SLC2A1 6513 HP:0001939 Abnormality of metabolism/homeostasis OMIM:606777 SLC2A1 6513 HP:0002353 EEG abnormality OMIM:606777 SLC2A1 6513 HP:0003487 Babinski sign OMIM:606777 SLC2A1 6513 HP:0001263 Global developmental delay OMIM:606777 SLC2A1 6513 HP:0000750 Delayed speech and language development OMIM:606777 SLC2A1 6513 HP:0003593 Infantile onset OMIM:606777 SLC2A1 6513 HP:0001251 Ataxia OMIM:606777 SLC2A1 6513 HP:0003470 Paralysis OMIM:606777 SLC2A1 6513 HP:0001260 Dysarthria OMIM:606777 SLC2A1 6513 HP:0001257 Spasticity OMIM:606777 SLC2A1 6513 HP:0001289 Confusion OMIM:604187 KIF5A 3798 HP:0001761 Pes cavus OMIM:604187 KIF5A 3798 HP:0000020 Urinary incontinence OMIM:604187 KIF5A 3798 HP:0002166 Impaired vibration sensation in the lower limbs OMIM:604187 KIF5A 3798 HP:0001258 Spastic paraplegia OMIM:604187 KIF5A 3798 HP:0003812 Phenotypic variability OMIM:604187 KIF5A 3798 HP:0001347 Hyperreflexia OMIM:604187 KIF5A 3798 HP:0002936 Distal sensory impairment OMIM:604187 KIF5A 3798 HP:0000006 Autosomal dominant inheritance OMIM:604187 KIF5A 3798 HP:0011448 Ankle clonus OMIM:604187 KIF5A 3798 HP:0001300 Parkinsonism OMIM:604187 KIF5A 3798 HP:0007340 Lower limb muscle weakness OMIM:604187 KIF5A 3798 HP:0011449 Knee clonus OMIM:604187 KIF5A 3798 HP:0003487 Babinski sign OMIM:604187 KIF5A 3798 HP:0003676 Progressive disorder OMIM:604187 KIF5A 3798 HP:0000012 Urinary urgency OMIM:604187 KIF5A 3798 HP:0002064 Spastic gait OMIM:604187 KIF5A 3798 HP:0001251 Ataxia OMIM:604187 KIF5A 3798 HP:0002650 Scoliosis OMIM:604187 KIF5A 3798 HP:0002839 Urinary bladder sphincter dysfunction OMIM:612551 APOL1 8542 HP:0000097 Focal segmental glomerulosclerosis OMIM:612551 APOL1 8542 HP:0010982 Polygenic inheritance OMIM:612551 APOL1 8542 HP:0003774 Stage 5 chronic kidney disease OMIM:107250 FOXE3 2301 HP:0007700 Anterior segment dysgenesis OMIM:107250 FOXE3 2301 HP:0001115 Posterior polar cataract OMIM:107250 FOXE3 2301 HP:0000006 Autosomal dominant inheritance OMIM:107250 FOXE3 2301 HP:0007759 Opacification of the corneal stroma OMIM:107250 PITX3 5309 HP:0007700 Anterior segment dysgenesis OMIM:107250 PITX3 5309 HP:0001115 Posterior polar cataract OMIM:107250 PITX3 5309 HP:0000006 Autosomal dominant inheritance OMIM:107250 PITX3 5309 HP:0007759 Opacification of the corneal stroma OMIM:614619 GLRB 2743 HP:0000007 Autosomal recessive inheritance OMIM:614619 GLRB 2743 HP:0002267 Exaggerated startle response OMIM:614619 GLRB 2743 HP:0001276 Hypertonia OMIM:614619 GLRB 2743 HP:0000565 Esotropia OMIM:314580 ZC4H2 55906 HP:0002804 Arthrogryposis multiplex congenita OMIM:314580 ZC4H2 55906 HP:0002808 Kyphosis OMIM:314580 ZC4H2 55906 HP:0001252 Muscular hypotonia OMIM:314580 ZC4H2 55906 HP:0001419 X-linked recessive inheritance OMIM:314580 ZC4H2 55906 HP:0000657 Oculomotor apraxia OMIM:314580 ZC4H2 55906 HP:0000347 Micrognathia OMIM:314580 ZC4H2 55906 HP:0012448 Delayed myelination OMIM:314580 ZC4H2 55906 HP:0000750 Delayed speech and language development OMIM:314580 ZC4H2 55906 HP:0001558 Decreased fetal movement OMIM:314580 ZC4H2 55906 HP:0003577 Congenital onset OMIM:314580 ZC4H2 55906 HP:0100543 Cognitive impairment OMIM:314580 ZC4H2 55906 HP:0001376 Limitation of joint mobility OMIM:314580 ZC4H2 55906 HP:0000343 Long philtrum OMIM:314580 ZC4H2 55906 HP:0003202 Skeletal muscle atrophy OMIM:314580 ZC4H2 55906 HP:0001257 Spasticity OMIM:314580 ZC4H2 55906 HP:0003693 Distal amyotrophy OMIM:314580 ZC4H2 55906 HP:0002307 Drooling OMIM:314580 ZC4H2 55906 HP:0000774 Narrow chest OMIM:314580 ZC4H2 55906 HP:0000369 Low-set ears OMIM:314580 ZC4H2 55906 HP:0000319 Smooth philtrum OMIM:314580 ZC4H2 55906 HP:0000508 Ptosis OMIM:314580 ZC4H2 55906 HP:0000597 Ophthalmoparesis OMIM:314580 ZC4H2 55906 HP:0000278 Retrognathia OMIM:314580 ZC4H2 55906 HP:0004209 Clinodactyly of the 5th finger OMIM:314580 ZC4H2 55906 HP:0001256 Intellectual disability, mild OMIM:314580 ZC4H2 55906 HP:0002643 Neonatal respiratory distress OMIM:314580 ZC4H2 55906 HP:0000486 Strabismus OMIM:314580 ZC4H2 55906 HP:0010806 U-Shaped upper lip vermilion OMIM:314580 ZC4H2 55906 HP:0001332 Dystonia OMIM:314580 ZC4H2 55906 HP:0005745 Congenital foot contractures OMIM:314580 ZC4H2 55906 HP:0000187 Broad alveolar ridges OMIM:314580 ZC4H2 55906 HP:0010628 Facial palsy OMIM:314580 ZC4H2 55906 HP:0002827 Hip dislocation OMIM:314580 ZC4H2 55906 HP:0004322 Short stature OMIM:314580 ZC4H2 55906 HP:0001250 Seizures OMIM:314580 ZC4H2 55906 HP:0002650 Scoliosis OMIM:314580 ZC4H2 55906 HP:0100022 Abnormality of movement OMIM:314580 ZC4H2 55906 HP:0012385 Camptodactyly OMIM:314580 ZC4H2 55906 HP:0000582 Upslanted palpebral fissure OMIM:314580 ZC4H2 55906 HP:0001284 Areflexia OMIM:314580 ZC4H2 55906 HP:0003307 Hyperlordosis OMIM:314580 ZC4H2 55906 HP:0009890 High anterior hairline OMIM:314580 ZC4H2 55906 HP:0002104 Apnea OMIM:314580 ZC4H2 55906 HP:0000218 High palate OMIM:314580 ZC4H2 55906 HP:0002167 Neurological speech impairment OMIM:314580 ZC4H2 55906 HP:0002186 Apraxia OMIM:314580 ZC4H2 55906 HP:0001762 Talipes equinovarus OMIM:314580 ZC4H2 55906 HP:0002059 Cerebral atrophy OMIM:314580 ZC4H2 55906 HP:0000470 Short neck OMIM:314580 ZC4H2 55906 HP:0011968 Feeding difficulties OMIM:314580 ZC4H2 55906 HP:0009623 Proximal placement of thumb OMIM:314580 ZC4H2 55906 HP:0001263 Global developmental delay OMIM:258450 POLG 5428 HP:0003548 Subsarcolemmal accumulations of abnormally shaped mitochondria OMIM:258450 POLG 5428 HP:0000508 Ptosis OMIM:258450 POLG 5428 HP:0001653 Mitral regurgitation OMIM:258450 POLG 5428 HP:0001284 Areflexia OMIM:258450 POLG 5428 HP:0002403 Positive Romberg sign OMIM:258450 POLG 5428 HP:0001260 Dysarthria OMIM:258450 POLG 5428 HP:0003200 Ragged-red muscle fibers OMIM:258450 POLG 5428 HP:0003557 Increased variability in muscle fiber diameter OMIM:258450 POLG 5428 HP:0003458 EMG: myopathic abnormalities OMIM:258450 POLG 5428 HP:0003737 Mitochondrial myopathy OMIM:258450 POLG 5428 HP:0003546 Exercise intolerance OMIM:258450 POLG 5428 HP:0001265 Hyporeflexia OMIM:258450 POLG 5428 HP:0002070 Limb ataxia OMIM:258450 POLG 5428 HP:0007641 Dyschromatopsia OMIM:258450 POLG 5428 HP:0001638 Cardiomyopathy OMIM:258450 POLG 5428 HP:0002015 Dysphagia OMIM:258450 POLG 5428 HP:0003812 Phenotypic variability OMIM:258450 POLG 5428 HP:0003688 Decreased activity of cytochrome C oxidase in muscle tissue OMIM:258450 POLG 5428 HP:0001761 Pes cavus OMIM:258450 POLG 5428 HP:0003376 Steppage gait OMIM:258450 POLG 5428 HP:0002067 Bradykinesia OMIM:258450 POLG 5428 HP:0000007 Autosomal recessive inheritance OMIM:258450 POLG 5428 HP:0008180 Mildly elevated creatine phosphokinase OMIM:258450 POLG 5428 HP:0003700 Generalized amyotrophy OMIM:258450 POLG 5428 HP:0010628 Facial palsy OMIM:258450 POLG 5428 HP:0003713 Muscle fiber necrosis OMIM:258450 POLG 5428 HP:0003236 Elevated serum creatine phosphokinase OMIM:258450 POLG 5428 HP:0001618 Dysphonia OMIM:258450 POLG 5428 HP:0001634 Mitral valve prolapse OMIM:258450 POLG 5428 HP:0003689 Multiple mitochondrial DNA deletions OMIM:258450 POLG 5428 HP:0002922 Increased CSF protein OMIM:258450 POLG 5428 HP:0002066 Gait ataxia OMIM:258450 POLG 5428 HP:0003390 Sensory axonal neuropathy OMIM:258450 POLG 5428 HP:0002460 Distal muscle weakness OMIM:258450 POLG 5428 HP:0003581 Adult onset OMIM:258450 POLG 5428 HP:0001300 Parkinsonism OMIM:258450 POLG 5428 HP:0000716 Depression OMIM:258450 POLG 5428 HP:0003434 Sensory ataxic neuropathy OMIM:258450 POLG 5428 HP:0000712 Emotional lability OMIM:258450 POLG 5428 HP:0000590 Progressive external ophthalmoplegia OMIM:258450 POLG 5428 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:258450 POLG 5428 HP:0003701 Proximal muscle weakness OMIM:258450 POLG 5428 HP:0002063 Rigidity OMIM:258450 POLG 5428 HP:0000505 Visual impairment OMIM:258450 POLG 5428 HP:0006858 Impaired distal proprioception OMIM:258450 POLG 5428 HP:0006886 Impaired distal vibration sensation OMIM:258450 POLG 5428 HP:0000648 Optic atrophy OMIM:613659 ERBB2 2064 HP:0001428 Somatic mutation OMIM:613659 ERBB2 2064 HP:0012126 Stomach cancer OMIM:613659 APC 324 HP:0001428 Somatic mutation OMIM:613659 APC 324 HP:0012126 Stomach cancer OMIM:613659 IRF1 3659 HP:0001428 Somatic mutation OMIM:613659 IRF1 3659 HP:0012126 Stomach cancer OMIM:613659 PIK3CA 5290 HP:0001428 Somatic mutation OMIM:613659 PIK3CA 5290 HP:0012126 Stomach cancer OMIM:613659 CASP10 843 HP:0001428 Somatic mutation OMIM:613659 CASP10 843 HP:0012126 Stomach cancer OMIM:613659 FGFR2 2263 HP:0001428 Somatic mutation OMIM:613659 FGFR2 2263 HP:0012126 Stomach cancer OMIM:613659 KLF6 1316 HP:0001428 Somatic mutation OMIM:613659 KLF6 1316 HP:0012126 Stomach cancer OMIM:613659 MUTYH 4595 HP:0001428 Somatic mutation OMIM:613659 MUTYH 4595 HP:0012126 Stomach cancer OMIM:604121 DNMT1 1786 HP:0002354 Memory impairment OMIM:604121 DNMT1 1786 HP:0003676 Progressive disorder OMIM:604121 DNMT1 1786 HP:0001257 Spasticity OMIM:604121 DNMT1 1786 HP:0002189 Excessive daytime sleepiness OMIM:604121 DNMT1 1786 HP:0000709 Psychosis OMIM:604121 DNMT1 1786 HP:0002524 Cataplexy OMIM:604121 DNMT1 1786 HP:0001347 Hyperreflexia OMIM:604121 DNMT1 1786 HP:0001272 Cerebellar atrophy OMIM:604121 DNMT1 1786 HP:0030050 Narcolepsy OMIM:604121 DNMT1 1786 HP:0002476 Primitive reflexes (palmomental, snout, glabellar) OMIM:604121 DNMT1 1786 HP:0001251 Ataxia OMIM:604121 DNMT1 1786 HP:0000726 Dementia OMIM:604121 DNMT1 1786 HP:0000407 Sensorineural hearing impairment OMIM:604121 DNMT1 1786 HP:0000648 Optic atrophy OMIM:604121 DNMT1 1786 HP:0000006 Autosomal dominant inheritance OMIM:309548 AFF2 2334 HP:0000426 Prominent nasal bridge OMIM:309548 AFF2 2334 HP:0001419 X-linked recessive inheritance OMIM:309548 AFF2 2334 HP:0100710 Impulsivity OMIM:309548 AFF2 2334 HP:0001939 Abnormality of metabolism/homeostasis OMIM:309548 AFF2 2334 HP:0000286 Epicanthus OMIM:309548 AFF2 2334 HP:0001249 Intellectual disability OMIM:309548 AFF2 2334 HP:0000722 Obsessive-compulsive behavior OMIM:309548 AFF2 2334 HP:0000713 Agitation OMIM:309548 AFF2 2334 HP:0000718 Aggressive behavior OMIM:309548 AFF2 2334 HP:0000750 Delayed speech and language development OMIM:309548 AFF2 2334 HP:0000752 Hyperactivity ORPHANET:79406 COL17A1 1308 HP:0008066 Abnormal blistering of the skin OMIM:214400 GDAP1 54332 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:214400 GDAP1 54332 HP:0003693 Distal amyotrophy OMIM:214400 GDAP1 54332 HP:0002751 Kyphoscoliosis OMIM:214400 GDAP1 54332 HP:0001270 Motor delay OMIM:214400 GDAP1 54332 HP:0001425 Heterogeneous OMIM:214400 GDAP1 54332 HP:0002460 Distal muscle weakness OMIM:214400 GDAP1 54332 HP:0001265 Hyporeflexia OMIM:214400 GDAP1 54332 HP:0003593 Infantile onset OMIM:214400 GDAP1 54332 HP:0000764 Peripheral axonal degeneration OMIM:214400 GDAP1 54332 HP:0001284 Areflexia OMIM:214400 GDAP1 54332 HP:0006915 Inability to walk by childhood/adolescence OMIM:214400 GDAP1 54332 HP:0007182 Peripheral hypomyelination OMIM:214400 GDAP1 54332 HP:0001178 Ulnar claw OMIM:214400 GDAP1 54332 HP:0003678 Rapidly progressive OMIM:214400 GDAP1 54332 HP:0003400 Basal lamina 'onion bulb' formation OMIM:214400 GDAP1 54332 HP:0001765 Hammertoe OMIM:214400 GDAP1 54332 HP:0003431 Decreased motor nerve conduction velocity OMIM:214400 GDAP1 54332 HP:0000007 Autosomal recessive inheritance OMIM:214400 GDAP1 54332 HP:0002936 Distal sensory impairment OMIM:214400 GDAP1 54332 HP:0003429 CNS hypomyelination OMIM:214400 GDAP1 54332 HP:0003382 Hypertrophic nerve changes OMIM:250100 ARSA 410 HP:0001251 Ataxia OMIM:250100 ARSA 410 HP:0001347 Hyperreflexia OMIM:250100 ARSA 410 HP:0005609 Gallbladder dysfunction OMIM:250100 ARSA 410 HP:0000746 Delusions OMIM:250100 ARSA 410 HP:0002922 Increased CSF protein OMIM:250100 ARSA 410 HP:0002510 Spastic tetraplegia OMIM:250100 ARSA 410 HP:0001268 Mental deterioration OMIM:250100 ARSA 410 HP:0001250 Seizures OMIM:250100 ARSA 410 HP:0000762 Decreased nerve conduction velocity OMIM:250100 ARSA 410 HP:0002072 Chorea OMIM:250100 ARSA 410 HP:0000020 Urinary incontinence OMIM:250100 ARSA 410 HP:0001283 Bulbar palsy OMIM:250100 ARSA 410 HP:0000712 Emotional lability OMIM:250100 ARSA 410 HP:0003487 Babinski sign OMIM:250100 ARSA 410 HP:0003445 EMG: neuropathic changes OMIM:250100 ARSA 410 HP:0002371 Loss of speech OMIM:250100 ARSA 410 HP:0000648 Optic atrophy OMIM:250100 ARSA 410 HP:0002500 Abnormality of the cerebral white matter OMIM:250100 ARSA 410 HP:0001082 Cholecystitis OMIM:250100 ARSA 410 HP:0001252 Muscular hypotonia OMIM:250100 ARSA 410 HP:0000738 Hallucinations OMIM:250100 ARSA 410 HP:0001332 Dystonia OMIM:250100 ARSA 410 HP:0001288 Gait disturbance OMIM:250100 ARSA 410 HP:0011096 Peripheral demyelination OMIM:250100 ARSA 410 HP:0000007 Autosomal recessive inheritance OMIM:250100 ARSA 410 HP:0002445 Tetraplegia OMIM:250100 ARSA 410 HP:0007133 Progressive peripheral neuropathy OMIM:250100 ARSA 410 HP:0001249 Intellectual disability OMIM:250100 ARSA 410 HP:0001260 Dysarthria OMIM:250100 ARSA 410 HP:0001265 Hyporeflexia OMIM:606367 IL2RA 3559 HP:0002716 Lymphadenopathy OMIM:606367 IL2RA 3559 HP:0002028 Chronic diarrhea OMIM:606367 IL2RA 3559 HP:0002720 IgA deficiency OMIM:606367 IL2RA 3559 HP:0002841 Recurrent fungal infections OMIM:606367 IL2RA 3559 HP:0002718 Recurrent bacterial infections OMIM:606367 IL2RA 3559 HP:0001433 Hepatosplenomegaly OMIM:606367 IL2RA 3559 HP:0000007 Autosomal recessive inheritance OMIM:606367 IL2RA 3559 HP:0004429 Recurrent viral infections OMIM:606367 IL2RA 3559 HP:0005403 T lymphocytopenia OMIM:610329 RNASEH2C 84153 HP:0001257 Spasticity OMIM:610329 RNASEH2C 84153 HP:0000007 Autosomal recessive inheritance OMIM:610329 RNASEH2C 84153 HP:0002910 Elevated hepatic transaminases OMIM:610329 RNASEH2C 84153 HP:0003819 Death in childhood OMIM:610329 RNASEH2C 84153 HP:0001332 Dystonia OMIM:610329 RNASEH2C 84153 HP:0000253 Progressive microcephaly OMIM:610329 RNASEH2C 84153 HP:0011344 Severe global developmental delay OMIM:610329 RNASEH2C 84153 HP:0001873 Thrombocytopenia OMIM:610329 RNASEH2C 84153 HP:0002514 Cerebral calcification OMIM:610329 RNASEH2C 84153 HP:0001433 Hepatosplenomegaly OMIM:601214 JUP 3728 HP:0005141 Episodes of ventricular tachycardia OMIM:601214 JUP 3728 HP:0002321 Vertigo OMIM:601214 JUP 3728 HP:0001639 Hypertrophic cardiomyopathy OMIM:601214 JUP 3728 HP:0000975 Hyperhidrosis OMIM:601214 JUP 3728 HP:0000982 Palmoplantar keratoderma OMIM:601214 JUP 3728 HP:0011362 Abnormal hair quantity OMIM:601214 JUP 3728 HP:0000956 Acanthosis nigricans OMIM:601214 JUP 3728 HP:0001699 Sudden death OMIM:601214 JUP 3728 HP:0001640 Cardiomegaly OMIM:601214 JUP 3728 HP:0001645 Sudden cardiac death OMIM:601214 JUP 3728 HP:0002224 Woolly hair OMIM:601214 JUP 3728 HP:0001635 Congestive heart failure OMIM:601214 JUP 3728 HP:0002212 Curly hair OMIM:601214 JUP 3728 HP:0000007 Autosomal recessive inheritance OMIM:601214 JUP 3728 HP:0000204 Cleft upper lip OMIM:601214 JUP 3728 HP:0001644 Dilated cardiomyopathy ORPHANET:3412 FANCB 2187 HP:0000482 Microcornea ORPHANET:3412 FANCB 2187 HP:0000648 Optic atrophy ORPHANET:3412 FANCB 2187 HP:0002410 Aqueductal stenosis ORPHANET:3412 FANCB 2187 HP:0002414 Spina bifida ORPHANET:3412 FANCB 2187 HP:0100589 Urogenital fistula ORPHANET:3412 FANCB 2187 HP:0000238 Hydrocephalus ORPHANET:3412 FANCB 2187 HP:0004299 Hernia of the abdominal wall ORPHANET:3412 FANCB 2187 HP:0008517 Aplasia/Hypoplasia of the sacrum ORPHANET:3412 FANCB 2187 HP:0100543 Cognitive impairment ORPHANET:3412 FANCB 2187 HP:0002575 Tracheoesophageal fistula ORPHANET:3412 FANCB 2187 HP:0002564 Malformation of the heart and great vessels ORPHANET:3412 FANCB 2187 HP:0008056 Aplasia/Hypoplasia affecting the eye ORPHANET:3412 FANCB 2187 HP:0001622 Premature birth ORPHANET:3412 FANCB 2187 HP:0001360 Holoprosencephaly ORPHANET:3412 FANCB 2187 HP:0003422 Vertebral segmentation defect ORPHANET:3412 FANCB 2187 HP:0003272 Abnormality of the hip bone ORPHANET:3412 FANCB 2187 HP:0001511 Intrauterine growth retardation ORPHANET:3412 FANCB 2187 HP:0006501 Aplasia/Hypoplasia of the radius ORPHANET:3412 FANCB 2187 HP:0001195 Single umbilical artery ORPHANET:3412 FANCB 2187 HP:0001561 Polyhydramnios ORPHANET:3412 FANCB 2187 HP:0008678 Renal hypoplasia/aplasia ORPHANET:3412 FANCB 2187 HP:0000028 Cryptorchidism ORPHANET:3412 FANCB 2187 HP:0000356 Abnormality of the outer ear ORPHANET:3412 FANCB 2187 HP:0006703 Aplasia/Hypoplasia of the lungs ORPHANET:3412 FANCB 2187 HP:0000347 Micrognathia ORPHANET:3412 FANCB 2187 HP:0000008 Abnormality of female internal genitalia OMIM:610984 CFI 3426 HP:0003621 Juvenile onset OMIM:610984 CFI 3426 HP:0000099 Glomerulonephritis OMIM:610984 CFI 3426 HP:0002633 Vasculitis OMIM:610984 CFI 3426 HP:0000007 Autosomal recessive inheritance OMIM:610984 CFI 3426 HP:0000403 Recurrent otitis media OMIM:610984 CFI 3426 HP:0005381 Recurrent meningococcal disease OMIM:610984 CFI 3426 HP:0000010 Recurrent urinary tract infections OMIM:610984 CFI 3426 HP:0005376 Recurrent Haemophilus influenzae infections OMIM:610984 CFI 3426 HP:0005416 Decreased serum complement factor B OMIM:610984 CFI 3426 HP:0012330 Pyelonephritis OMIM:610984 CFI 3426 HP:0006946 Recurrent meningitis OMIM:610984 CFI 3426 HP:0011108 Recurrent sinusitis OMIM:610984 CFI 3426 HP:0005366 Recurrent streptococcus pneumoniae infections OMIM:610984 CFI 3426 HP:0005369 Decreased serum complement factor H OMIM:610984 CFI 3426 HP:0000083 Renal insufficiency OMIM:610984 CFI 3426 HP:0005356 Decreased serum complement factor I OMIM:610984 CFI 3426 HP:0001581 Recurrent skin infections OMIM:610984 CFI 3426 HP:0005421 Decreased serum complement C3 OMIM:610984 CFI 3426 HP:0001369 Arthritis OMIM:614845 CEP164 22897 HP:0001320 Cerebellar vermis hypoplasia OMIM:614845 CEP164 22897 HP:0000090 Nephronophthisis OMIM:614845 CEP164 22897 HP:0001399 Hepatic failure OMIM:614845 CEP164 22897 HP:0000007 Autosomal recessive inheritance OMIM:614845 CEP164 22897 HP:0000618 Blindness OMIM:614845 CEP164 22897 HP:0010442 Polydactyly OMIM:614845 CEP164 22897 HP:0000546 Retinal degeneration OMIM:614845 CEP164 22897 HP:0001513 Obesity OMIM:614845 CEP164 22897 HP:0000639 Nystagmus OMIM:614845 CEP164 22897 HP:0001250 Seizures OMIM:614845 CEP164 22897 HP:0003812 Phenotypic variability OMIM:614845 CEP164 22897 HP:0001263 Global developmental delay OMIM:613751 ACVR2B 93 HP:0001629 Ventricular septal defect OMIM:613751 ACVR2B 93 HP:0000006 Autosomal dominant inheritance OMIM:613751 ACVR2B 93 HP:0001651 Dextrocardia OMIM:613751 ACVR2B 93 HP:0012020 Right aortic arch OMIM:613751 ACVR2B 93 HP:0006695 Atrioventricular canal defect OMIM:613751 ACVR2B 93 HP:0010452 Ectopia of the spleen OMIM:212138 SLC25A20 788 HP:0001943 Hypoglycemia OMIM:212138 SLC25A20 788 HP:0004756 Ventricular tachycardia OMIM:212138 SLC25A20 788 HP:0000007 Autosomal recessive inheritance OMIM:212138 SLC25A20 788 HP:0001254 Lethargy OMIM:212138 SLC25A20 788 HP:0003201 Rhabdomyolysis OMIM:212138 SLC25A20 788 HP:0006543 Cardiorespiratory arrest OMIM:212138 SLC25A20 788 HP:0001324 Muscle weakness OMIM:212138 SLC25A20 788 HP:0002910 Elevated hepatic transaminases OMIM:212138 SLC25A20 788 HP:0001259 Coma OMIM:212138 SLC25A20 788 HP:0002615 Hypotension OMIM:212138 SLC25A20 788 HP:0001250 Seizures OMIM:212138 SLC25A20 788 HP:0006682 Ventricular extrasystoles OMIM:212138 SLC25A20 788 HP:0003215 Dicarboxylic aciduria OMIM:212138 SLC25A20 788 HP:0000737 Irritability OMIM:212138 SLC25A20 788 HP:0001714 Ventricular hypertrophy OMIM:212138 SLC25A20 788 HP:0002240 Hepatomegaly OMIM:212138 SLC25A20 788 HP:0001662 Bradycardia OMIM:212138 SLC25A20 788 HP:0001638 Cardiomyopathy OMIM:212138 SLC25A20 788 HP:0003236 Elevated serum creatine phosphokinase OMIM:212138 SLC25A20 788 HP:0001252 Muscular hypotonia OMIM:212138 SLC25A20 788 HP:0001678 Atrioventricular block OMIM:212138 SLC25A20 788 HP:0001987 Hyperammonemia OMIM:300291 IKBKG 8517 HP:0002721 Immunodeficiency OMIM:300291 IKBKG 8517 HP:0000968 Ectodermal dysplasia OMIM:300291 IKBKG 8517 HP:0002719 Recurrent infections OMIM:300291 IKBKG 8517 HP:0002961 Dysgammaglobulinemia OMIM:300291 IKBKG 8517 HP:0001419 X-linked recessive inheritance OMIM:153550 RPS14 6208 HP:0001452 Autosomal dominant contiguous gene syndrome OMIM:153550 RPS14 6208 HP:0003745 Sporadic OMIM:153550 RPS14 6208 HP:0002863 Myelodysplasia OMIM:153550 RPS14 6208 HP:0012143 Abnormality of cells of the megakaryocyte lineage OMIM:153550 RPS14 6208 HP:0012133 Erythroid hypoplasia OMIM:153550 RPS14 6208 HP:0004861 Refractory macrocytic anemia OMIM:153550 RPS14 6208 HP:0001428 Somatic mutation OMIM:613071 SCNN1G 6340 HP:0002110 Bronchiectasis OMIM:613071 SCNN1G 6340 HP:0000006 Autosomal dominant inheritance OMIM:613071 SCNN1G 6340 HP:0004469 Chronic bronchitis ORPHANET:90354 PRDM5 11107 HP:0000978 Bruising susceptibility ORPHANET:90354 PRDM5 11107 HP:0001641 Abnormality of the pulmonary valve ORPHANET:90354 PRDM5 11107 HP:0003272 Abnormality of the hip bone ORPHANET:90354 PRDM5 11107 HP:0000405 Conductive hearing impairment ORPHANET:90354 PRDM5 11107 HP:0000545 Myopia ORPHANET:90354 PRDM5 11107 HP:0001633 Abnormality of the mitral valve ORPHANET:90354 PRDM5 11107 HP:0000505 Visual impairment ORPHANET:90354 PRDM5 11107 HP:0000175 Cleft palate ORPHANET:90354 PRDM5 11107 HP:0100689 Decreased corneal thickness ORPHANET:90354 PRDM5 11107 HP:0002650 Scoliosis ORPHANET:90354 PRDM5 11107 HP:0004349 Reduced bone mineral density ORPHANET:90354 PRDM5 11107 HP:0000164 Abnormality of the teeth ORPHANET:90354 PRDM5 11107 HP:0001382 Joint hypermobility ORPHANET:90354 PRDM5 11107 HP:0005930 Abnormality of epiphysis morphology ORPHANET:90354 PRDM5 11107 HP:0000501 Glaucoma ORPHANET:90354 PRDM5 11107 HP:0000592 Blue sclerae ORPHANET:90354 PRDM5 11107 HP:0003326 Myalgia ORPHANET:90354 PRDM5 11107 HP:0000407 Sensorineural hearing impairment ORPHANET:90354 PRDM5 11107 HP:0001288 Gait disturbance ORPHANET:90354 PRDM5 11107 HP:0001131 Corneal dystrophy ORPHANET:90354 PRDM5 11107 HP:0002757 Recurrent fractures ORPHANET:90354 PRDM5 11107 HP:0200020 Corneal erosion ORPHANET:90354 PRDM5 11107 HP:0000987 Atypical scarring of skin ORPHANET:90354 PRDM5 11107 HP:0000541 Retinal detachment ORPHANET:90354 PRDM5 11107 HP:0100790 Hernia ORPHANET:90354 ZNF469 84627 HP:0000978 Bruising susceptibility ORPHANET:90354 ZNF469 84627 HP:0001641 Abnormality of the pulmonary valve ORPHANET:90354 ZNF469 84627 HP:0003272 Abnormality of the hip bone ORPHANET:90354 ZNF469 84627 HP:0000405 Conductive hearing impairment ORPHANET:90354 ZNF469 84627 HP:0000545 Myopia ORPHANET:90354 ZNF469 84627 HP:0001633 Abnormality of the mitral valve ORPHANET:90354 ZNF469 84627 HP:0000505 Visual impairment ORPHANET:90354 ZNF469 84627 HP:0000175 Cleft palate ORPHANET:90354 ZNF469 84627 HP:0100689 Decreased corneal thickness ORPHANET:90354 ZNF469 84627 HP:0002650 Scoliosis ORPHANET:90354 ZNF469 84627 HP:0004349 Reduced bone mineral density ORPHANET:90354 ZNF469 84627 HP:0000164 Abnormality of the teeth ORPHANET:90354 ZNF469 84627 HP:0001382 Joint hypermobility ORPHANET:90354 ZNF469 84627 HP:0005930 Abnormality of epiphysis morphology ORPHANET:90354 ZNF469 84627 HP:0000501 Glaucoma ORPHANET:90354 ZNF469 84627 HP:0000592 Blue sclerae ORPHANET:90354 ZNF469 84627 HP:0003326 Myalgia ORPHANET:90354 ZNF469 84627 HP:0000407 Sensorineural hearing impairment ORPHANET:90354 ZNF469 84627 HP:0001288 Gait disturbance ORPHANET:90354 ZNF469 84627 HP:0001131 Corneal dystrophy ORPHANET:90354 ZNF469 84627 HP:0002757 Recurrent fractures ORPHANET:90354 ZNF469 84627 HP:0200020 Corneal erosion ORPHANET:90354 ZNF469 84627 HP:0000987 Atypical scarring of skin ORPHANET:90354 ZNF469 84627 HP:0000541 Retinal detachment ORPHANET:90354 ZNF469 84627 HP:0100790 Hernia OMIM:608423 TNPO3 23534 HP:0003621 Juvenile onset OMIM:608423 TNPO3 23534 HP:0009025 Increased connective tissue OMIM:608423 TNPO3 23534 HP:0003810 Late-onset distal muscle weakness OMIM:608423 TNPO3 23534 HP:0003306 Spinal rigidity OMIM:608423 TNPO3 23534 HP:0003547 Shoulder girdle muscle weakness OMIM:608423 TNPO3 23534 HP:0000006 Autosomal dominant inheritance OMIM:608423 TNPO3 23534 HP:0003749 Pelvic girdle muscle weakness OMIM:608423 TNPO3 23534 HP:0003691 Scapular winging OMIM:608423 TNPO3 23534 HP:0001939 Abnormality of metabolism/homeostasis OMIM:608423 TNPO3 23534 HP:0003805 Rimmed vacuoles OMIM:608423 TNPO3 23534 HP:0003581 Adult onset OMIM:608423 TNPO3 23534 HP:0003736 Autophagic vacuoles OMIM:608423 TNPO3 23534 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:608423 TNPO3 23534 HP:0003458 EMG: myopathic abnormalities OMIM:608423 TNPO3 23534 HP:0001371 Flexion contracture OMIM:608423 TNPO3 23534 HP:0003687 Centrally nucleated skeletal muscle fibers OMIM:608423 TNPO3 23534 HP:0003560 Muscular dystrophy OMIM:610090 PNPO 55163 HP:0003785 Decreased CSF homovanillic acid (HVA) OMIM:610090 PNPO 55163 HP:0001336 Myoclonus OMIM:610090 PNPO 55163 HP:0008936 Muscular hypotonia of the trunk OMIM:610090 PNPO 55163 HP:0001942 Metabolic acidosis OMIM:610090 PNPO 55163 HP:0001298 Encephalopathy OMIM:610090 PNPO 55163 HP:0008872 Feeding difficulties in infancy OMIM:610090 PNPO 55163 HP:0002151 Increased serum lactate OMIM:610090 PNPO 55163 HP:0000253 Progressive microcephaly OMIM:610090 PNPO 55163 HP:0000007 Autosomal recessive inheritance OMIM:610090 PNPO 55163 HP:0001250 Seizures OMIM:610090 PNPO 55163 HP:0001508 Failure to thrive OMIM:610090 PNPO 55163 HP:0001622 Premature birth OMIM:610090 PNPO 55163 HP:0001943 Hypoglycemia OMIM:610090 PNPO 55163 HP:0001903 Anemia OMIM:611548 NOBOX 135935 HP:0008209 Premature ovarian failure OMIM:611548 NOBOX 135935 HP:0000869 Secondary amenorrhea OMIM:611548 NOBOX 135935 HP:0000786 Primary amenorrhea OMIM:124500 GJB2 2706 HP:0007460 Autoamputation of digits OMIM:124500 GJB2 2706 HP:0000175 Cleft palate OMIM:124500 GJB2 2706 HP:0001596 Alopecia OMIM:124500 GJB2 2706 HP:0000078 Abnormality of the genital system OMIM:124500 GJB2 2706 HP:0000006 Autosomal dominant inheritance OMIM:124500 GJB2 2706 HP:0100716 Self-injurious behavior OMIM:124500 GJB2 2706 HP:0100543 Cognitive impairment OMIM:124500 GJB2 2706 HP:0009775 Amniotic constriction ring OMIM:124500 GJB2 2706 HP:0008388 Abnormality of the toenails OMIM:124500 GJB2 2706 HP:0008064 Ichthyosis OMIM:124500 GJB2 2706 HP:0002797 Osteolysis OMIM:124500 GJB2 2706 HP:0000407 Sensorineural hearing impairment OMIM:124500 GJB2 2706 HP:0007465 Honeycomb palmoplantar keratoderma OMIM:609975 HADH 3033 HP:0000825 Hyperinsulinemic hypoglycemia OMIM:609975 HADH 3033 HP:0001249 Intellectual disability OMIM:609975 HADH 3033 HP:0002173 Hypoglycemic seizures OMIM:609975 HADH 3033 HP:0001325 Hypoglycemic coma OMIM:609975 HADH 3033 HP:0000007 Autosomal recessive inheritance OMIM:608615 AXIN2 8313 HP:0000006 Autosomal dominant inheritance OMIM:608615 AXIN2 8313 HP:0005227 Adenomatous colonic polyposis OMIM:608615 AXIN2 8313 HP:0002209 Sparse scalp hair OMIM:608615 AXIN2 8313 HP:0000677 Oligodontia OMIM:603218 PRNP 5621 HP:0001260 Dysarthria OMIM:603218 PRNP 5621 HP:0000711 Restlessness OMIM:603218 PRNP 5621 HP:0000746 Delusions OMIM:603218 PRNP 5621 HP:0002072 Chorea OMIM:603218 PRNP 5621 HP:0006999 Basal ganglia gliosis OMIM:603218 PRNP 5621 HP:0002063 Rigidity OMIM:603218 PRNP 5621 HP:0002311 Incoordination OMIM:603218 PRNP 5621 HP:0000006 Autosomal dominant inheritance OMIM:603218 PRNP 5621 HP:0000716 Depression OMIM:603218 PRNP 5621 HP:0000718 Aggressive behavior OMIM:603218 PRNP 5621 HP:0000739 Anxiety OMIM:603218 PRNP 5621 HP:0000751 Personality changes OMIM:603218 PRNP 5621 HP:0002317 Unsteady gait OMIM:603218 PRNP 5621 HP:0000726 Dementia OMIM:603218 PRNP 5621 HP:0002283 Global brain atrophy OMIM:603218 PRNP 5621 HP:0001310 Dysmetria OMIM:612423 KLKB1 3818 HP:0003645 Prolonged partial thromboplastin time OMIM:612423 KLKB1 3818 HP:0000007 Autosomal recessive inheritance OMIM:612004 CYCS 54205 HP:0001873 Thrombocytopenia OMIM:612004 CYCS 54205 HP:0000006 Autosomal dominant inheritance OMIM:607080 DHH 50846 HP:0008668 Gonadal dysgenesis, male OMIM:607080 DHH 50846 HP:0003380 Decreased number of peripheral myelinated nerve fibers OMIM:607080 DHH 50846 HP:0000133 Gonadal dysgenesis OMIM:607080 DHH 50846 HP:0001271 Polyneuropathy OMIM:147892 DIO1 1733 HP:0000853 Goiter OMIM:147892 DIO1 1733 HP:0000006 Autosomal dominant inheritance OMIM:147892 DIO1 1733 HP:0008247 Euthyroid hyperthyroxinemia OMIM:606843 CD40 958 HP:0003496 Increased IgM level OMIM:606843 CD40 958 HP:0001875 Neutropenia OMIM:606843 CD40 958 HP:0002721 Immunodeficiency OMIM:606843 CD40 958 HP:0002720 IgA deficiency OMIM:606843 CD40 958 HP:0000007 Autosomal recessive inheritance OMIM:606843 CD40 958 HP:0004315 IgG deficiency OMIM:606843 CD40 958 HP:0002959 Impaired Ig class switch recombination OMIM:606843 CD40 958 HP:0002718 Recurrent bacterial infections OMIM:606843 CD40 958 HP:0002849 Absence of lymph node germinal center OMIM:606843 CD40 958 HP:0005479 IgE deficiency OMIM:606843 CD40 958 HP:0002847 Impaired memory B-cell generation OMIM:601110 ALG3 10195 HP:0002164 Nail dysplasia OMIM:601110 ALG3 10195 HP:0002014 Diarrhea OMIM:601110 ALG3 10195 HP:0001263 Global developmental delay OMIM:601110 ALG3 10195 HP:0001347 Hyperreflexia OMIM:601110 ALG3 10195 HP:0001508 Failure to thrive OMIM:601110 ALG3 10195 HP:0000648 Optic atrophy OMIM:601110 ALG3 10195 HP:0000007 Autosomal recessive inheritance OMIM:601110 ALG3 10195 HP:0005280 Depressed nasal bridge OMIM:601110 ALG3 10195 HP:0000612 Iris coloboma OMIM:601110 ALG3 10195 HP:0001864 Clinodactyly of the 5th toe OMIM:601110 ALG3 10195 HP:0008936 Muscular hypotonia of the trunk OMIM:601110 ALG3 10195 HP:0100543 Cognitive impairment OMIM:601110 ALG3 10195 HP:0011473 Villous atrophy OMIM:601110 ALG3 10195 HP:0000400 Macrotia OMIM:601110 ALG3 10195 HP:0000218 High palate OMIM:601110 ALG3 10195 HP:0000252 Microcephaly OMIM:601110 ALG3 10195 HP:0000486 Strabismus OMIM:601110 ALG3 10195 HP:0001272 Cerebellar atrophy OMIM:601110 ALG3 10195 HP:0000414 Bulbous nose OMIM:601110 ALG3 10195 HP:0000431 Wide nasal bridge OMIM:601110 ALG3 10195 HP:0000478 Abnormality of the eye OMIM:601110 ALG3 10195 HP:0012537 Food intolerance OMIM:601110 ALG3 10195 HP:0002059 Cerebral atrophy OMIM:601110 ALG3 10195 HP:0002804 Arthrogryposis multiplex congenita OMIM:601110 ALG3 10195 HP:0000654 Decreased electroretinogram (ERG) amplitude OMIM:601110 ALG3 10195 HP:0001141 Severe visual impairment OMIM:601110 ALG3 10195 HP:0001181 Adducted thumb OMIM:601110 ALG3 10195 HP:0001276 Hypertonia OMIM:601110 ALG3 10195 HP:0001250 Seizures OMIM:601110 ALG3 10195 HP:0009473 Joint contracture of the hand OMIM:601110 ALG3 10195 HP:0001762 Talipes equinovarus OMIM:601110 ALG3 10195 HP:0002013 Vomiting OMIM:601110 ALG3 10195 HP:0002521 Hypsarrhythmia OMIM:601110 ALG3 10195 HP:0001792 Small nail OMIM:601110 ALG3 10195 HP:0100807 Long fingers OMIM:601110 ALG3 10195 HP:0003642 Type I transferrin isoform profile OMIM:601110 ALG3 10195 HP:0000193 Bifid uvula OMIM:601110 ALG3 10195 HP:0000286 Epicanthus OMIM:601110 ALG3 10195 HP:0001252 Muscular hypotonia OMIM:616329 KCNJ11 3767 HP:0009800 Maternal diabetes OMIM:615966 PRKDC 5591 HP:0011220 Prominent forehead OMIM:615966 PRKDC 5591 HP:0010557 Overlapping fingers OMIM:615966 PRKDC 5591 HP:0004430 Severe combined immunodeficiency OMIM:615966 PRKDC 5591 HP:0000054 Micropenis OMIM:615966 PRKDC 5591 HP:0001302 Pachygyria OMIM:615966 PRKDC 5591 HP:0000490 Deeply set eye OMIM:615966 PRKDC 5591 HP:0000252 Microcephaly OMIM:615966 PRKDC 5591 HP:0000407 Sensorineural hearing impairment OMIM:615966 PRKDC 5591 HP:0000505 Visual impairment OMIM:615966 PRKDC 5591 HP:0000219 Thin upper lip vermilion OMIM:615966 PRKDC 5591 HP:0001320 Cerebellar vermis hypoplasia OMIM:615966 PRKDC 5591 HP:0002783 Recurrent lower respiratory tract infections OMIM:615966 PRKDC 5591 HP:0012444 Brain atrophy OMIM:615966 PRKDC 5591 HP:0002079 Hypoplasia of the corpus callosum OMIM:615966 PRKDC 5591 HP:0000369 Low-set ears OMIM:615966 PRKDC 5591 HP:0001511 Intrauterine growth retardation OMIM:615966 PRKDC 5591 HP:0001250 Seizures OMIM:615966 PRKDC 5591 HP:0009879 Cortical gyral simplification OMIM:615966 PRKDC 5591 HP:0000343 Long philtrum OMIM:615966 PRKDC 5591 HP:0003429 CNS hypomyelination OMIM:615966 PRKDC 5591 HP:0011107 Recurrent aphthous stomatitis OMIM:615966 PRKDC 5591 HP:0000431 Wide nasal bridge OMIM:615966 PRKDC 5591 HP:0000331 Short chin ORPHANET:648 PTPN11 5781 HP:0000272 Malar flattening ORPHANET:648 PTPN11 5781 HP:0000520 Proptosis ORPHANET:648 PTPN11 5781 HP:0000325 Triangular face ORPHANET:648 PTPN11 5781 HP:0000494 Downslanted palpebral fissures ORPHANET:648 PTPN11 5781 HP:0000486 Strabismus ORPHANET:648 PTPN11 5781 HP:0000508 Ptosis ORPHANET:648 PTPN11 5781 HP:0004209 Clinodactyly of the 5th finger ORPHANET:648 PTPN11 5781 HP:0000028 Cryptorchidism ORPHANET:648 PTPN11 5781 HP:0000407 Sensorineural hearing impairment ORPHANET:648 PTPN11 5781 HP:0000348 High forehead ORPHANET:648 PTPN11 5781 HP:0011039 Abnormality of the helix ORPHANET:648 PTPN11 5781 HP:0011675 Arrhythmia ORPHANET:648 PTPN11 5781 HP:0000995 Melanocytic nevus ORPHANET:648 PTPN11 5781 HP:0000174 Abnormality of the palate ORPHANET:648 PTPN11 5781 HP:0001872 Abnormality of thrombocytes ORPHANET:648 PTPN11 5781 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:648 PTPN11 5781 HP:0002167 Neurological speech impairment ORPHANET:648 PTPN11 5781 HP:0000347 Micrognathia ORPHANET:648 PTPN11 5781 HP:0008872 Feeding difficulties in infancy ORPHANET:648 PTPN11 5781 HP:0002240 Hepatomegaly ORPHANET:648 PTPN11 5781 HP:0000316 Hypertelorism ORPHANET:648 PTPN11 5781 HP:0000465 Webbed neck ORPHANET:648 PTPN11 5781 HP:0000767 Pectus excavatum ORPHANET:648 PTPN11 5781 HP:0007477 Abnormal dermatoglyphics ORPHANET:648 PTPN11 5781 HP:0002974 Radioulnar synostosis ORPHANET:648 PTPN11 5781 HP:0002208 Coarse hair ORPHANET:648 PTPN11 5781 HP:0001641 Abnormality of the pulmonary valve ORPHANET:648 PTPN11 5781 HP:0004404 Abnormality of the nipple ORPHANET:648 PTPN11 5781 HP:0001156 Brachydactyly syndrome ORPHANET:648 PTPN11 5781 HP:0002162 Low posterior hairline ORPHANET:648 PTPN11 5781 HP:0000474 Thickened nuchal skin fold ORPHANET:648 PTPN11 5781 HP:0001252 Muscular hypotonia ORPHANET:648 PTPN11 5781 HP:0000179 Thick lower lip vermilion ORPHANET:648 PTPN11 5781 HP:0004414 Abnormality of the pulmonary artery ORPHANET:648 PTPN11 5781 HP:0002650 Scoliosis ORPHANET:648 PTPN11 5781 HP:0001743 Abnormality of the spleen ORPHANET:648 PTPN11 5781 HP:0100625 Enlarged thorax ORPHANET:648 PTPN11 5781 HP:0001004 Lymphedema ORPHANET:648 PTPN11 5781 HP:0000639 Nystagmus ORPHANET:648 PTPN11 5781 HP:0001928 Abnormality of coagulation ORPHANET:648 PTPN11 5781 HP:0001324 Muscle weakness ORPHANET:648 PTPN11 5781 HP:0000476 Cystic hygroma ORPHANET:648 PTPN11 5781 HP:0011362 Abnormal hair quantity ORPHANET:648 PTPN11 5781 HP:0004322 Short stature ORPHANET:648 PTPN11 5781 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:648 PTPN11 5781 HP:0001382 Joint hypermobility ORPHANET:648 PTPN11 5781 HP:0000768 Pectus carinatum ORPHANET:648 PTPN11 5781 HP:0002750 Delayed skeletal maturation ORPHANET:648 SOS1 6654 HP:0000272 Malar flattening ORPHANET:648 SOS1 6654 HP:0000520 Proptosis ORPHANET:648 SOS1 6654 HP:0000325 Triangular face ORPHANET:648 SOS1 6654 HP:0000494 Downslanted palpebral fissures ORPHANET:648 SOS1 6654 HP:0000486 Strabismus ORPHANET:648 SOS1 6654 HP:0000508 Ptosis ORPHANET:648 SOS1 6654 HP:0004209 Clinodactyly of the 5th finger ORPHANET:648 SOS1 6654 HP:0000028 Cryptorchidism ORPHANET:648 SOS1 6654 HP:0000407 Sensorineural hearing impairment ORPHANET:648 SOS1 6654 HP:0000348 High forehead ORPHANET:648 SOS1 6654 HP:0011039 Abnormality of the helix ORPHANET:648 SOS1 6654 HP:0011675 Arrhythmia ORPHANET:648 SOS1 6654 HP:0000995 Melanocytic nevus ORPHANET:648 SOS1 6654 HP:0000174 Abnormality of the palate ORPHANET:648 SOS1 6654 HP:0001872 Abnormality of thrombocytes ORPHANET:648 SOS1 6654 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:648 SOS1 6654 HP:0002167 Neurological speech impairment ORPHANET:648 SOS1 6654 HP:0000347 Micrognathia ORPHANET:648 SOS1 6654 HP:0008872 Feeding difficulties in infancy ORPHANET:648 SOS1 6654 HP:0002240 Hepatomegaly ORPHANET:648 SOS1 6654 HP:0000316 Hypertelorism ORPHANET:648 SOS1 6654 HP:0000465 Webbed neck ORPHANET:648 SOS1 6654 HP:0000767 Pectus excavatum ORPHANET:648 SOS1 6654 HP:0007477 Abnormal dermatoglyphics ORPHANET:648 SOS1 6654 HP:0002974 Radioulnar synostosis ORPHANET:648 SOS1 6654 HP:0002208 Coarse hair ORPHANET:648 SOS1 6654 HP:0001641 Abnormality of the pulmonary valve ORPHANET:648 SOS1 6654 HP:0004404 Abnormality of the nipple ORPHANET:648 SOS1 6654 HP:0001156 Brachydactyly syndrome ORPHANET:648 SOS1 6654 HP:0002162 Low posterior hairline ORPHANET:648 SOS1 6654 HP:0000474 Thickened nuchal skin fold ORPHANET:648 SOS1 6654 HP:0001252 Muscular hypotonia ORPHANET:648 SOS1 6654 HP:0000179 Thick lower lip vermilion ORPHANET:648 SOS1 6654 HP:0004414 Abnormality of the pulmonary artery ORPHANET:648 SOS1 6654 HP:0002650 Scoliosis ORPHANET:648 SOS1 6654 HP:0001743 Abnormality of the spleen ORPHANET:648 SOS1 6654 HP:0100625 Enlarged thorax ORPHANET:648 SOS1 6654 HP:0001004 Lymphedema ORPHANET:648 SOS1 6654 HP:0000639 Nystagmus ORPHANET:648 SOS1 6654 HP:0001928 Abnormality of coagulation ORPHANET:648 SOS1 6654 HP:0001324 Muscle weakness ORPHANET:648 SOS1 6654 HP:0000476 Cystic hygroma ORPHANET:648 SOS1 6654 HP:0011362 Abnormal hair quantity ORPHANET:648 SOS1 6654 HP:0004322 Short stature ORPHANET:648 SOS1 6654 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:648 SOS1 6654 HP:0001382 Joint hypermobility ORPHANET:648 SOS1 6654 HP:0000768 Pectus carinatum ORPHANET:648 SOS1 6654 HP:0002750 Delayed skeletal maturation ORPHANET:648 RIT1 6016 HP:0000272 Malar flattening ORPHANET:648 RIT1 6016 HP:0000520 Proptosis ORPHANET:648 RIT1 6016 HP:0000325 Triangular face ORPHANET:648 RIT1 6016 HP:0000494 Downslanted palpebral fissures ORPHANET:648 RIT1 6016 HP:0000486 Strabismus ORPHANET:648 RIT1 6016 HP:0000508 Ptosis ORPHANET:648 RIT1 6016 HP:0004209 Clinodactyly of the 5th finger ORPHANET:648 RIT1 6016 HP:0000028 Cryptorchidism ORPHANET:648 RIT1 6016 HP:0000407 Sensorineural hearing impairment ORPHANET:648 RIT1 6016 HP:0000348 High forehead ORPHANET:648 RIT1 6016 HP:0011039 Abnormality of the helix ORPHANET:648 RIT1 6016 HP:0011675 Arrhythmia ORPHANET:648 RIT1 6016 HP:0000995 Melanocytic nevus ORPHANET:648 RIT1 6016 HP:0000174 Abnormality of the palate ORPHANET:648 RIT1 6016 HP:0001872 Abnormality of thrombocytes ORPHANET:648 RIT1 6016 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:648 RIT1 6016 HP:0002167 Neurological speech impairment ORPHANET:648 RIT1 6016 HP:0000347 Micrognathia ORPHANET:648 RIT1 6016 HP:0008872 Feeding difficulties in infancy ORPHANET:648 RIT1 6016 HP:0002240 Hepatomegaly ORPHANET:648 RIT1 6016 HP:0000316 Hypertelorism ORPHANET:648 RIT1 6016 HP:0000465 Webbed neck ORPHANET:648 RIT1 6016 HP:0000767 Pectus excavatum ORPHANET:648 RIT1 6016 HP:0007477 Abnormal dermatoglyphics ORPHANET:648 RIT1 6016 HP:0002974 Radioulnar synostosis ORPHANET:648 RIT1 6016 HP:0002208 Coarse hair ORPHANET:648 RIT1 6016 HP:0001641 Abnormality of the pulmonary valve ORPHANET:648 RIT1 6016 HP:0004404 Abnormality of the nipple ORPHANET:648 RIT1 6016 HP:0001156 Brachydactyly syndrome ORPHANET:648 RIT1 6016 HP:0002162 Low posterior hairline ORPHANET:648 RIT1 6016 HP:0000474 Thickened nuchal skin fold ORPHANET:648 RIT1 6016 HP:0001252 Muscular hypotonia ORPHANET:648 RIT1 6016 HP:0000179 Thick lower lip vermilion ORPHANET:648 RIT1 6016 HP:0004414 Abnormality of the pulmonary artery ORPHANET:648 RIT1 6016 HP:0002650 Scoliosis ORPHANET:648 RIT1 6016 HP:0001743 Abnormality of the spleen ORPHANET:648 RIT1 6016 HP:0100625 Enlarged thorax ORPHANET:648 RIT1 6016 HP:0001004 Lymphedema ORPHANET:648 RIT1 6016 HP:0000639 Nystagmus ORPHANET:648 RIT1 6016 HP:0001928 Abnormality of coagulation ORPHANET:648 RIT1 6016 HP:0001324 Muscle weakness ORPHANET:648 RIT1 6016 HP:0000476 Cystic hygroma ORPHANET:648 RIT1 6016 HP:0011362 Abnormal hair quantity ORPHANET:648 RIT1 6016 HP:0004322 Short stature ORPHANET:648 RIT1 6016 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:648 RIT1 6016 HP:0001382 Joint hypermobility ORPHANET:648 RIT1 6016 HP:0000768 Pectus carinatum ORPHANET:648 RIT1 6016 HP:0002750 Delayed skeletal maturation ORPHANET:648 RAF1 5894 HP:0000272 Malar flattening ORPHANET:648 RAF1 5894 HP:0000520 Proptosis ORPHANET:648 RAF1 5894 HP:0000325 Triangular face ORPHANET:648 RAF1 5894 HP:0000494 Downslanted palpebral fissures ORPHANET:648 RAF1 5894 HP:0000486 Strabismus ORPHANET:648 RAF1 5894 HP:0000508 Ptosis ORPHANET:648 RAF1 5894 HP:0004209 Clinodactyly of the 5th finger ORPHANET:648 RAF1 5894 HP:0000028 Cryptorchidism ORPHANET:648 RAF1 5894 HP:0000407 Sensorineural hearing impairment ORPHANET:648 RAF1 5894 HP:0000348 High forehead ORPHANET:648 RAF1 5894 HP:0011039 Abnormality of the helix ORPHANET:648 RAF1 5894 HP:0011675 Arrhythmia ORPHANET:648 RAF1 5894 HP:0000995 Melanocytic nevus ORPHANET:648 RAF1 5894 HP:0000174 Abnormality of the palate ORPHANET:648 RAF1 5894 HP:0001872 Abnormality of thrombocytes ORPHANET:648 RAF1 5894 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:648 RAF1 5894 HP:0002167 Neurological speech impairment ORPHANET:648 RAF1 5894 HP:0000347 Micrognathia ORPHANET:648 RAF1 5894 HP:0008872 Feeding difficulties in infancy ORPHANET:648 RAF1 5894 HP:0002240 Hepatomegaly ORPHANET:648 RAF1 5894 HP:0000316 Hypertelorism ORPHANET:648 RAF1 5894 HP:0000465 Webbed neck ORPHANET:648 RAF1 5894 HP:0000767 Pectus excavatum ORPHANET:648 RAF1 5894 HP:0007477 Abnormal dermatoglyphics ORPHANET:648 RAF1 5894 HP:0002974 Radioulnar synostosis ORPHANET:648 RAF1 5894 HP:0002208 Coarse hair ORPHANET:648 RAF1 5894 HP:0001641 Abnormality of the pulmonary valve ORPHANET:648 RAF1 5894 HP:0004404 Abnormality of the nipple ORPHANET:648 RAF1 5894 HP:0001156 Brachydactyly syndrome ORPHANET:648 RAF1 5894 HP:0002162 Low posterior hairline ORPHANET:648 RAF1 5894 HP:0000474 Thickened nuchal skin fold ORPHANET:648 RAF1 5894 HP:0001252 Muscular hypotonia ORPHANET:648 RAF1 5894 HP:0000179 Thick lower lip vermilion ORPHANET:648 RAF1 5894 HP:0004414 Abnormality of the pulmonary artery ORPHANET:648 RAF1 5894 HP:0002650 Scoliosis ORPHANET:648 RAF1 5894 HP:0001743 Abnormality of the spleen ORPHANET:648 RAF1 5894 HP:0100625 Enlarged thorax ORPHANET:648 RAF1 5894 HP:0001004 Lymphedema ORPHANET:648 RAF1 5894 HP:0000639 Nystagmus ORPHANET:648 RAF1 5894 HP:0001928 Abnormality of coagulation ORPHANET:648 RAF1 5894 HP:0001324 Muscle weakness ORPHANET:648 RAF1 5894 HP:0000476 Cystic hygroma ORPHANET:648 RAF1 5894 HP:0011362 Abnormal hair quantity ORPHANET:648 RAF1 5894 HP:0004322 Short stature ORPHANET:648 RAF1 5894 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:648 RAF1 5894 HP:0001382 Joint hypermobility ORPHANET:648 RAF1 5894 HP:0000768 Pectus carinatum ORPHANET:648 RAF1 5894 HP:0002750 Delayed skeletal maturation ORPHANET:648 A2ML1 144568 HP:0000272 Malar flattening ORPHANET:648 A2ML1 144568 HP:0000520 Proptosis ORPHANET:648 A2ML1 144568 HP:0000325 Triangular face ORPHANET:648 A2ML1 144568 HP:0000494 Downslanted palpebral fissures ORPHANET:648 A2ML1 144568 HP:0000486 Strabismus ORPHANET:648 A2ML1 144568 HP:0000508 Ptosis ORPHANET:648 A2ML1 144568 HP:0004209 Clinodactyly of the 5th finger ORPHANET:648 A2ML1 144568 HP:0000028 Cryptorchidism ORPHANET:648 A2ML1 144568 HP:0000407 Sensorineural hearing impairment ORPHANET:648 A2ML1 144568 HP:0000348 High forehead ORPHANET:648 A2ML1 144568 HP:0011039 Abnormality of the helix ORPHANET:648 A2ML1 144568 HP:0011675 Arrhythmia ORPHANET:648 A2ML1 144568 HP:0000995 Melanocytic nevus ORPHANET:648 A2ML1 144568 HP:0000174 Abnormality of the palate ORPHANET:648 A2ML1 144568 HP:0001872 Abnormality of thrombocytes ORPHANET:648 A2ML1 144568 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:648 A2ML1 144568 HP:0002167 Neurological speech impairment ORPHANET:648 A2ML1 144568 HP:0000347 Micrognathia ORPHANET:648 A2ML1 144568 HP:0008872 Feeding difficulties in infancy ORPHANET:648 A2ML1 144568 HP:0002240 Hepatomegaly ORPHANET:648 A2ML1 144568 HP:0000316 Hypertelorism ORPHANET:648 A2ML1 144568 HP:0000465 Webbed neck ORPHANET:648 A2ML1 144568 HP:0000767 Pectus excavatum ORPHANET:648 A2ML1 144568 HP:0007477 Abnormal dermatoglyphics ORPHANET:648 A2ML1 144568 HP:0002974 Radioulnar synostosis ORPHANET:648 A2ML1 144568 HP:0002208 Coarse hair ORPHANET:648 A2ML1 144568 HP:0001641 Abnormality of the pulmonary valve ORPHANET:648 A2ML1 144568 HP:0004404 Abnormality of the nipple ORPHANET:648 A2ML1 144568 HP:0001156 Brachydactyly syndrome ORPHANET:648 A2ML1 144568 HP:0002162 Low posterior hairline ORPHANET:648 A2ML1 144568 HP:0000474 Thickened nuchal skin fold ORPHANET:648 A2ML1 144568 HP:0001252 Muscular hypotonia ORPHANET:648 A2ML1 144568 HP:0000179 Thick lower lip vermilion ORPHANET:648 A2ML1 144568 HP:0004414 Abnormality of the pulmonary artery ORPHANET:648 A2ML1 144568 HP:0002650 Scoliosis ORPHANET:648 A2ML1 144568 HP:0001743 Abnormality of the spleen ORPHANET:648 A2ML1 144568 HP:0100625 Enlarged thorax ORPHANET:648 A2ML1 144568 HP:0001004 Lymphedema ORPHANET:648 A2ML1 144568 HP:0000639 Nystagmus ORPHANET:648 A2ML1 144568 HP:0001928 Abnormality of coagulation ORPHANET:648 A2ML1 144568 HP:0001324 Muscle weakness ORPHANET:648 A2ML1 144568 HP:0000476 Cystic hygroma ORPHANET:648 A2ML1 144568 HP:0011362 Abnormal hair quantity ORPHANET:648 A2ML1 144568 HP:0004322 Short stature ORPHANET:648 A2ML1 144568 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:648 A2ML1 144568 HP:0001382 Joint hypermobility ORPHANET:648 A2ML1 144568 HP:0000768 Pectus carinatum ORPHANET:648 A2ML1 144568 HP:0002750 Delayed skeletal maturation ORPHANET:648 NRAS 4893 HP:0000272 Malar flattening ORPHANET:648 NRAS 4893 HP:0000520 Proptosis ORPHANET:648 NRAS 4893 HP:0000325 Triangular face ORPHANET:648 NRAS 4893 HP:0000494 Downslanted palpebral fissures ORPHANET:648 NRAS 4893 HP:0000486 Strabismus ORPHANET:648 NRAS 4893 HP:0000508 Ptosis ORPHANET:648 NRAS 4893 HP:0004209 Clinodactyly of the 5th finger ORPHANET:648 NRAS 4893 HP:0000028 Cryptorchidism ORPHANET:648 NRAS 4893 HP:0000407 Sensorineural hearing impairment ORPHANET:648 NRAS 4893 HP:0000348 High forehead ORPHANET:648 NRAS 4893 HP:0011039 Abnormality of the helix ORPHANET:648 NRAS 4893 HP:0011675 Arrhythmia ORPHANET:648 NRAS 4893 HP:0000995 Melanocytic nevus ORPHANET:648 NRAS 4893 HP:0000174 Abnormality of the palate ORPHANET:648 NRAS 4893 HP:0001872 Abnormality of thrombocytes ORPHANET:648 NRAS 4893 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:648 NRAS 4893 HP:0002167 Neurological speech impairment ORPHANET:648 NRAS 4893 HP:0000347 Micrognathia ORPHANET:648 NRAS 4893 HP:0008872 Feeding difficulties in infancy ORPHANET:648 NRAS 4893 HP:0002240 Hepatomegaly ORPHANET:648 NRAS 4893 HP:0000316 Hypertelorism ORPHANET:648 NRAS 4893 HP:0000465 Webbed neck ORPHANET:648 NRAS 4893 HP:0000767 Pectus excavatum ORPHANET:648 NRAS 4893 HP:0007477 Abnormal dermatoglyphics ORPHANET:648 NRAS 4893 HP:0002974 Radioulnar synostosis ORPHANET:648 NRAS 4893 HP:0002208 Coarse hair ORPHANET:648 NRAS 4893 HP:0001641 Abnormality of the pulmonary valve ORPHANET:648 NRAS 4893 HP:0004404 Abnormality of the nipple ORPHANET:648 NRAS 4893 HP:0001156 Brachydactyly syndrome ORPHANET:648 NRAS 4893 HP:0002162 Low posterior hairline ORPHANET:648 NRAS 4893 HP:0000474 Thickened nuchal skin fold ORPHANET:648 NRAS 4893 HP:0001252 Muscular hypotonia ORPHANET:648 NRAS 4893 HP:0000179 Thick lower lip vermilion ORPHANET:648 NRAS 4893 HP:0004414 Abnormality of the pulmonary artery ORPHANET:648 NRAS 4893 HP:0002650 Scoliosis ORPHANET:648 NRAS 4893 HP:0001743 Abnormality of the spleen ORPHANET:648 NRAS 4893 HP:0100625 Enlarged thorax ORPHANET:648 NRAS 4893 HP:0001004 Lymphedema ORPHANET:648 NRAS 4893 HP:0000639 Nystagmus ORPHANET:648 NRAS 4893 HP:0001928 Abnormality of coagulation ORPHANET:648 NRAS 4893 HP:0001324 Muscle weakness ORPHANET:648 NRAS 4893 HP:0000476 Cystic hygroma ORPHANET:648 NRAS 4893 HP:0011362 Abnormal hair quantity ORPHANET:648 NRAS 4893 HP:0004322 Short stature ORPHANET:648 NRAS 4893 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:648 NRAS 4893 HP:0001382 Joint hypermobility ORPHANET:648 NRAS 4893 HP:0000768 Pectus carinatum ORPHANET:648 NRAS 4893 HP:0002750 Delayed skeletal maturation ORPHANET:648 KRAS 3845 HP:0000272 Malar flattening ORPHANET:648 KRAS 3845 HP:0000520 Proptosis ORPHANET:648 KRAS 3845 HP:0000325 Triangular face ORPHANET:648 KRAS 3845 HP:0000494 Downslanted palpebral fissures ORPHANET:648 KRAS 3845 HP:0000486 Strabismus ORPHANET:648 KRAS 3845 HP:0000508 Ptosis ORPHANET:648 KRAS 3845 HP:0004209 Clinodactyly of the 5th finger ORPHANET:648 KRAS 3845 HP:0000028 Cryptorchidism ORPHANET:648 KRAS 3845 HP:0000407 Sensorineural hearing impairment ORPHANET:648 KRAS 3845 HP:0000348 High forehead ORPHANET:648 KRAS 3845 HP:0011039 Abnormality of the helix ORPHANET:648 KRAS 3845 HP:0011675 Arrhythmia ORPHANET:648 KRAS 3845 HP:0000995 Melanocytic nevus ORPHANET:648 KRAS 3845 HP:0000174 Abnormality of the palate ORPHANET:648 KRAS 3845 HP:0001872 Abnormality of thrombocytes ORPHANET:648 KRAS 3845 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:648 KRAS 3845 HP:0002167 Neurological speech impairment ORPHANET:648 KRAS 3845 HP:0000347 Micrognathia ORPHANET:648 KRAS 3845 HP:0008872 Feeding difficulties in infancy ORPHANET:648 KRAS 3845 HP:0002240 Hepatomegaly ORPHANET:648 KRAS 3845 HP:0000316 Hypertelorism ORPHANET:648 KRAS 3845 HP:0000465 Webbed neck ORPHANET:648 KRAS 3845 HP:0000767 Pectus excavatum ORPHANET:648 KRAS 3845 HP:0007477 Abnormal dermatoglyphics ORPHANET:648 KRAS 3845 HP:0002974 Radioulnar synostosis ORPHANET:648 KRAS 3845 HP:0002208 Coarse hair ORPHANET:648 KRAS 3845 HP:0001641 Abnormality of the pulmonary valve ORPHANET:648 KRAS 3845 HP:0004404 Abnormality of the nipple ORPHANET:648 KRAS 3845 HP:0001156 Brachydactyly syndrome ORPHANET:648 KRAS 3845 HP:0002162 Low posterior hairline ORPHANET:648 KRAS 3845 HP:0000474 Thickened nuchal skin fold ORPHANET:648 KRAS 3845 HP:0001252 Muscular hypotonia ORPHANET:648 KRAS 3845 HP:0000179 Thick lower lip vermilion ORPHANET:648 KRAS 3845 HP:0004414 Abnormality of the pulmonary artery ORPHANET:648 KRAS 3845 HP:0002650 Scoliosis ORPHANET:648 KRAS 3845 HP:0001743 Abnormality of the spleen ORPHANET:648 KRAS 3845 HP:0100625 Enlarged thorax ORPHANET:648 KRAS 3845 HP:0001004 Lymphedema ORPHANET:648 KRAS 3845 HP:0000639 Nystagmus ORPHANET:648 KRAS 3845 HP:0001928 Abnormality of coagulation ORPHANET:648 KRAS 3845 HP:0001324 Muscle weakness ORPHANET:648 KRAS 3845 HP:0000476 Cystic hygroma ORPHANET:648 KRAS 3845 HP:0011362 Abnormal hair quantity ORPHANET:648 KRAS 3845 HP:0004322 Short stature ORPHANET:648 KRAS 3845 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:648 KRAS 3845 HP:0001382 Joint hypermobility ORPHANET:648 KRAS 3845 HP:0000768 Pectus carinatum ORPHANET:648 KRAS 3845 HP:0002750 Delayed skeletal maturation ORPHANET:648 KAT6B 23522 HP:0000272 Malar flattening ORPHANET:648 KAT6B 23522 HP:0000520 Proptosis ORPHANET:648 KAT6B 23522 HP:0000325 Triangular face ORPHANET:648 KAT6B 23522 HP:0000494 Downslanted palpebral fissures ORPHANET:648 KAT6B 23522 HP:0000486 Strabismus ORPHANET:648 KAT6B 23522 HP:0000508 Ptosis ORPHANET:648 KAT6B 23522 HP:0004209 Clinodactyly of the 5th finger ORPHANET:648 KAT6B 23522 HP:0000028 Cryptorchidism ORPHANET:648 KAT6B 23522 HP:0000407 Sensorineural hearing impairment ORPHANET:648 KAT6B 23522 HP:0000348 High forehead ORPHANET:648 KAT6B 23522 HP:0011039 Abnormality of the helix ORPHANET:648 KAT6B 23522 HP:0011675 Arrhythmia ORPHANET:648 KAT6B 23522 HP:0000995 Melanocytic nevus ORPHANET:648 KAT6B 23522 HP:0000174 Abnormality of the palate ORPHANET:648 KAT6B 23522 HP:0001872 Abnormality of thrombocytes ORPHANET:648 KAT6B 23522 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:648 KAT6B 23522 HP:0002167 Neurological speech impairment ORPHANET:648 KAT6B 23522 HP:0000347 Micrognathia ORPHANET:648 KAT6B 23522 HP:0008872 Feeding difficulties in infancy ORPHANET:648 KAT6B 23522 HP:0002240 Hepatomegaly ORPHANET:648 KAT6B 23522 HP:0000316 Hypertelorism ORPHANET:648 KAT6B 23522 HP:0000465 Webbed neck ORPHANET:648 KAT6B 23522 HP:0000767 Pectus excavatum ORPHANET:648 KAT6B 23522 HP:0007477 Abnormal dermatoglyphics ORPHANET:648 KAT6B 23522 HP:0002974 Radioulnar synostosis ORPHANET:648 KAT6B 23522 HP:0002208 Coarse hair ORPHANET:648 KAT6B 23522 HP:0001641 Abnormality of the pulmonary valve ORPHANET:648 KAT6B 23522 HP:0004404 Abnormality of the nipple ORPHANET:648 KAT6B 23522 HP:0001156 Brachydactyly syndrome ORPHANET:648 KAT6B 23522 HP:0002162 Low posterior hairline ORPHANET:648 KAT6B 23522 HP:0000474 Thickened nuchal skin fold ORPHANET:648 KAT6B 23522 HP:0001252 Muscular hypotonia ORPHANET:648 KAT6B 23522 HP:0000179 Thick lower lip vermilion ORPHANET:648 KAT6B 23522 HP:0004414 Abnormality of the pulmonary artery ORPHANET:648 KAT6B 23522 HP:0002650 Scoliosis ORPHANET:648 KAT6B 23522 HP:0001743 Abnormality of the spleen ORPHANET:648 KAT6B 23522 HP:0100625 Enlarged thorax ORPHANET:648 KAT6B 23522 HP:0001004 Lymphedema ORPHANET:648 KAT6B 23522 HP:0000639 Nystagmus ORPHANET:648 KAT6B 23522 HP:0001928 Abnormality of coagulation ORPHANET:648 KAT6B 23522 HP:0001324 Muscle weakness ORPHANET:648 KAT6B 23522 HP:0000476 Cystic hygroma ORPHANET:648 KAT6B 23522 HP:0011362 Abnormal hair quantity ORPHANET:648 KAT6B 23522 HP:0004322 Short stature ORPHANET:648 KAT6B 23522 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:648 KAT6B 23522 HP:0001382 Joint hypermobility ORPHANET:648 KAT6B 23522 HP:0000768 Pectus carinatum ORPHANET:648 KAT6B 23522 HP:0002750 Delayed skeletal maturation ORPHANET:648 BRAF 673 HP:0000272 Malar flattening ORPHANET:648 BRAF 673 HP:0000520 Proptosis ORPHANET:648 BRAF 673 HP:0000325 Triangular face ORPHANET:648 BRAF 673 HP:0000494 Downslanted palpebral fissures ORPHANET:648 BRAF 673 HP:0000486 Strabismus ORPHANET:648 BRAF 673 HP:0000508 Ptosis ORPHANET:648 BRAF 673 HP:0004209 Clinodactyly of the 5th finger ORPHANET:648 BRAF 673 HP:0000028 Cryptorchidism ORPHANET:648 BRAF 673 HP:0000407 Sensorineural hearing impairment ORPHANET:648 BRAF 673 HP:0000348 High forehead ORPHANET:648 BRAF 673 HP:0011039 Abnormality of the helix ORPHANET:648 BRAF 673 HP:0011675 Arrhythmia ORPHANET:648 BRAF 673 HP:0000995 Melanocytic nevus ORPHANET:648 BRAF 673 HP:0000174 Abnormality of the palate ORPHANET:648 BRAF 673 HP:0001872 Abnormality of thrombocytes ORPHANET:648 BRAF 673 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:648 BRAF 673 HP:0002167 Neurological speech impairment ORPHANET:648 BRAF 673 HP:0000347 Micrognathia ORPHANET:648 BRAF 673 HP:0008872 Feeding difficulties in infancy ORPHANET:648 BRAF 673 HP:0002240 Hepatomegaly ORPHANET:648 BRAF 673 HP:0000316 Hypertelorism ORPHANET:648 BRAF 673 HP:0000465 Webbed neck ORPHANET:648 BRAF 673 HP:0000767 Pectus excavatum ORPHANET:648 BRAF 673 HP:0007477 Abnormal dermatoglyphics ORPHANET:648 BRAF 673 HP:0002974 Radioulnar synostosis ORPHANET:648 BRAF 673 HP:0002208 Coarse hair ORPHANET:648 BRAF 673 HP:0001641 Abnormality of the pulmonary valve ORPHANET:648 BRAF 673 HP:0004404 Abnormality of the nipple ORPHANET:648 BRAF 673 HP:0001156 Brachydactyly syndrome ORPHANET:648 BRAF 673 HP:0002162 Low posterior hairline ORPHANET:648 BRAF 673 HP:0000474 Thickened nuchal skin fold ORPHANET:648 BRAF 673 HP:0001252 Muscular hypotonia ORPHANET:648 BRAF 673 HP:0000179 Thick lower lip vermilion ORPHANET:648 BRAF 673 HP:0004414 Abnormality of the pulmonary artery ORPHANET:648 BRAF 673 HP:0002650 Scoliosis ORPHANET:648 BRAF 673 HP:0001743 Abnormality of the spleen ORPHANET:648 BRAF 673 HP:0100625 Enlarged thorax ORPHANET:648 BRAF 673 HP:0001004 Lymphedema ORPHANET:648 BRAF 673 HP:0000639 Nystagmus ORPHANET:648 BRAF 673 HP:0001928 Abnormality of coagulation ORPHANET:648 BRAF 673 HP:0001324 Muscle weakness ORPHANET:648 BRAF 673 HP:0000476 Cystic hygroma ORPHANET:648 BRAF 673 HP:0011362 Abnormal hair quantity ORPHANET:648 BRAF 673 HP:0004322 Short stature ORPHANET:648 BRAF 673 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:648 BRAF 673 HP:0001382 Joint hypermobility ORPHANET:648 BRAF 673 HP:0000768 Pectus carinatum ORPHANET:648 BRAF 673 HP:0002750 Delayed skeletal maturation ORPHANET:648 RASA2 5922 HP:0000272 Malar flattening ORPHANET:648 RASA2 5922 HP:0000520 Proptosis ORPHANET:648 RASA2 5922 HP:0000325 Triangular face ORPHANET:648 RASA2 5922 HP:0000494 Downslanted palpebral fissures ORPHANET:648 RASA2 5922 HP:0000486 Strabismus ORPHANET:648 RASA2 5922 HP:0000508 Ptosis ORPHANET:648 RASA2 5922 HP:0004209 Clinodactyly of the 5th finger ORPHANET:648 RASA2 5922 HP:0000028 Cryptorchidism ORPHANET:648 RASA2 5922 HP:0000407 Sensorineural hearing impairment ORPHANET:648 RASA2 5922 HP:0000348 High forehead ORPHANET:648 RASA2 5922 HP:0011039 Abnormality of the helix ORPHANET:648 RASA2 5922 HP:0011675 Arrhythmia ORPHANET:648 RASA2 5922 HP:0000995 Melanocytic nevus ORPHANET:648 RASA2 5922 HP:0000174 Abnormality of the palate ORPHANET:648 RASA2 5922 HP:0001872 Abnormality of thrombocytes ORPHANET:648 RASA2 5922 HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature ORPHANET:648 RASA2 5922 HP:0002167 Neurological speech impairment ORPHANET:648 RASA2 5922 HP:0000347 Micrognathia ORPHANET:648 RASA2 5922 HP:0008872 Feeding difficulties in infancy ORPHANET:648 RASA2 5922 HP:0002240 Hepatomegaly ORPHANET:648 RASA2 5922 HP:0000316 Hypertelorism ORPHANET:648 RASA2 5922 HP:0000465 Webbed neck ORPHANET:648 RASA2 5922 HP:0000767 Pectus excavatum ORPHANET:648 RASA2 5922 HP:0007477 Abnormal dermatoglyphics ORPHANET:648 RASA2 5922 HP:0002974 Radioulnar synostosis ORPHANET:648 RASA2 5922 HP:0002208 Coarse hair ORPHANET:648 RASA2 5922 HP:0001641 Abnormality of the pulmonary valve ORPHANET:648 RASA2 5922 HP:0004404 Abnormality of the nipple ORPHANET:648 RASA2 5922 HP:0001156 Brachydactyly syndrome ORPHANET:648 RASA2 5922 HP:0002162 Low posterior hairline ORPHANET:648 RASA2 5922 HP:0000474 Thickened nuchal skin fold ORPHANET:648 RASA2 5922 HP:0001252 Muscular hypotonia ORPHANET:648 RASA2 5922 HP:0000179 Thick lower lip vermilion ORPHANET:648 RASA2 5922 HP:0004414 Abnormality of the pulmonary artery ORPHANET:648 RASA2 5922 HP:0002650 Scoliosis ORPHANET:648 RASA2 5922 HP:0001743 Abnormality of the spleen ORPHANET:648 RASA2 5922 HP:0100625 Enlarged thorax ORPHANET:648 RASA2 5922 HP:0001004 Lymphedema ORPHANET:648 RASA2 5922 HP:0000639 Nystagmus ORPHANET:648 RASA2 5922 HP:0001928 Abnormality of coagulation ORPHANET:648 RASA2 5922 HP:0001324 Muscle weakness ORPHANET:648 RASA2 5922 HP:0000476 Cystic hygroma ORPHANET:648 RASA2 5922 HP:0011362 Abnormal hair quantity ORPHANET:648 RASA2 5922 HP:0004322 Short stature ORPHANET:648 RASA2 5922 HP:0000368 Low-set, posteriorly rotated ears ORPHANET:648 RASA2 5922 HP:0001382 Joint hypermobility ORPHANET:648 RASA2 5922 HP:0000768 Pectus carinatum ORPHANET:648 RASA2 5922 HP:0002750 Delayed skeletal maturation ORPHANET:440 MAMLD1 10046 HP:0100627 Displacement of the external urethral meatus ORPHANET:440 AR 367 HP:0100627 Displacement of the external urethral meatus OMIM:605594 DSPP 1834 HP:0000360 Tinnitus OMIM:605594 DSPP 1834 HP:0000703 Dentinogenesis imperfecta OMIM:605594 DSPP 1834 HP:0000006 Autosomal dominant inheritance OMIM:605594 DSPP 1834 HP:0005101 High-frequency hearing impairment OMIM:605594 DSPP 1834 HP:0008619 Bilateral sensorineural hearing impairment OMIM:155100 MYH9 4627 HP:0000006 Autosomal dominant inheritance OMIM:155100 MYH9 4627 HP:0003010 Prolonged bleeding time OMIM:155100 MYH9 4627 HP:0001977 Abnormal thrombosis OMIM:155100 MYH9 4627 HP:0000132 Menorrhagia OMIM:155100 MYH9 4627 HP:0008264 Neutrophil inclusion bodies OMIM:155100 MYH9 4627 HP:0001873 Thrombocytopenia OMIM:155100 MYH9 4627 HP:0000978 Bruising susceptibility OMIM:155100 MYH9 4627 HP:0001658 Myocardial infarction OMIM:155100 MYH9 4627 HP:0000421 Epistaxis OMIM:155100 MYH9 4627 HP:0001902 Giant platelets OMIM:612943 KLHL7 55975 HP:0000006 Autosomal dominant inheritance OMIM:612943 KLHL7 55975 HP:0000980 Pallor OMIM:612943 KLHL7 55975 HP:0000510 Retinitis pigmentosa OMIM:605361 PRKCG 5582 HP:0002066 Gait ataxia OMIM:605361 PRKCG 5582 HP:0002015 Dysphagia OMIM:605361 PRKCG 5582 HP:0002354 Memory impairment OMIM:605361 PRKCG 5582 HP:0001347 Hyperreflexia OMIM:605361 PRKCG 5582 HP:0004373 Focal dystonia OMIM:605361 PRKCG 5582 HP:0003677 Slow progression OMIM:605361 PRKCG 5582 HP:0001310 Dysmetria OMIM:605361 PRKCG 5582 HP:0000716 Depression OMIM:605361 PRKCG 5582 HP:0000317 Facial myokymia OMIM:605361 PRKCG 5582 HP:0000639 Nystagmus OMIM:605361 PRKCG 5582 HP:0000006 Autosomal dominant inheritance OMIM:605361 PRKCG 5582 HP:0001272 Cerebellar atrophy OMIM:605361 PRKCG 5582 HP:0006938 Impaired vibration sensation at ankles OMIM:605361 PRKCG 5582 HP:0003829 Incomplete penetrance OMIM:605361 PRKCG 5582 HP:0007018 Attention deficit hyperactivity disorder OMIM:605361 PRKCG 5582 HP:0001268 Mental deterioration OMIM:605361 PRKCG 5582 HP:0002073 Progressive cerebellar ataxia OMIM:605361 PRKCG 5582 HP:0001260 Dysarthria OMIM:256030 NEB 4703 HP:0008180 Mildly elevated creatine phosphokinase OMIM:256030 NEB 4703 HP:0002104 Apnea OMIM:256030 NEB 4703 HP:0001533 Slender build OMIM:256030 NEB 4703 HP:0000478 Abnormality of the eye OMIM:256030 NEB 4703 HP:0001284 Areflexia OMIM:256030 NEB 4703 HP:0000218 High palate OMIM:256030 NEB 4703 HP:0003307 Hyperlordosis OMIM:256030 NEB 4703 HP:0000369 Low-set ears OMIM:256030 NEB 4703 HP:0002803 Congenital contracture OMIM:256030 NEB 4703 HP:0003458 EMG: myopathic abnormalities OMIM:256030 NEB 4703 HP:0003306 Spinal rigidity OMIM:256030 NEB 4703 HP:0003445 EMG: neuropathic changes OMIM:256030 NEB 4703 HP:0003722 Neck flexor weakness OMIM:256030 NEB 4703 HP:0003593 Infantile onset OMIM:256030 NEB 4703 HP:0001561 Polyhydramnios OMIM:256030 NEB 4703 HP:0002058 Myopathic facies OMIM:256030 NEB 4703 HP:0003701 Proximal muscle weakness OMIM:256030 NEB 4703 HP:0003810 Late-onset distal muscle weakness OMIM:256030 NEB 4703 HP:0002804 Arthrogryposis multiplex congenita OMIM:256030 NEB 4703 HP:0002747 Respiratory insufficiency due to muscle weakness OMIM:256030 NEB 4703 HP:0001283 Bulbar palsy OMIM:256030 NEB 4703 HP:0000007 Autosomal recessive inheritance OMIM:256030 NEB 4703 HP:0002650 Scoliosis OMIM:256030 NEB 4703 HP:0000175 Cleft palate OMIM:256030 NEB 4703 HP:0011968 Feeding difficulties OMIM:256030 NEB 4703 HP:0003803 Type 1 muscle fiber predominance OMIM:256030 NEB 4703 HP:0001270 Motor delay OMIM:256030 NEB 4703 HP:0003324 Generalized muscle weakness OMIM:256030 NEB 4703 HP:0001547 Abnormality of the rib cage OMIM:256030 NEB 4703 HP:0001265 Hyporeflexia OMIM:256030 NEB 4703 HP:0002015 Dysphagia OMIM:256030 NEB 4703 HP:0002359 Frequent falls OMIM:256030 NEB 4703 HP:0003690 Limb muscle weakness OMIM:256030 NEB 4703 HP:0010628 Facial palsy OMIM:256030 NEB 4703 HP:0001558 Decreased fetal movement OMIM:256030 NEB 4703 HP:0002515 Waddling gait OMIM:256030 NEB 4703 HP:0003798 Nemaline bodies OMIM:256030 NEB 4703 HP:0001319 Neonatal hypotonia OMIM:613977 HBG2 3048 HP:0012119 Methemoglobinemia OMIM:613977 HBG2 3048 HP:0001923 Reticulocytosis OMIM:613977 HBG2 3048 HP:0001903 Anemia OMIM:613977 HBG2 3048 HP:0000006 Autosomal dominant inheritance OMIM:613977 HBG2 3048 HP:0000952 Jaundice OMIM:613977 HBG2 3048 HP:0002240 Hepatomegaly OMIM:613977 HBG2 3048 HP:0003577 Congenital onset OMIM:613977 HBG2 3048 HP:0000961 Cyanosis OMIM:180100 RP1 6101 HP:0007737 Bony spicule pigmentary retinopathy OMIM:180100 RP1 6101 HP:0000662 Night blindness OMIM:180100 RP1 6101 HP:0000510 Retinitis pigmentosa OMIM:180100 RP1 6101 HP:0007688 Absent rod-and cone-mediated responses on ERG OMIM:180100 RP1 6101 HP:0001133 Constricted visual fields OMIM:614842 KISS1 3814 HP:0000013 Hypoplasia of the uterus OMIM:614842 KISS1 3814 HP:0000044 Hypogonadotrophic hypogonadism OMIM:614842 KISS1 3814 HP:0000458 Anosmia OMIM:614842 KISS1 3814 HP:0000007 Autosomal recessive inheritance OMIM:614842 KISS1 3814 HP:0002750 Delayed skeletal maturation OMIM:613119 KCNE3 10008 HP:0000006 Autosomal dominant inheritance OMIM:613119 KCNE3 10008 HP:0001663 Ventricular fibrillation OMIM:613119 KCNE3 10008 HP:0012251 ST segment elevation OMIM:613119 KCNE3 10008 HP:0001695 Cardiac arrest ORPHANET:1452 RUNX2 860 HP:0000772 Abnormality of the ribs ORPHANET:1452 RUNX2 860 HP:0000340 Sloping forehead ORPHANET:1452 RUNX2 860 HP:0002645 Wormian bones ORPHANET:1452 RUNX2 860 HP:0002857 Genu valgum ORPHANET:1452 RUNX2 860 HP:0001172 Abnormality of the thumb ORPHANET:1452 RUNX2 860 HP:0001156 Brachydactyly syndrome ORPHANET:1452 RUNX2 860 HP:0000175 Cleft palate ORPHANET:1452 RUNX2 860 HP:0000684 Delayed eruption of teeth ORPHANET:1452 RUNX2 860 HP:0000246 Sinusitis ORPHANET:1452 RUNX2 860 HP:0002104 Apnea ORPHANET:1452 RUNX2 860 HP:0000274 Small face ORPHANET:1452 RUNX2 860 HP:0000774 Narrow chest ORPHANET:1452 RUNX2 860 HP:0005107 Abnormality of the sacrum ORPHANET:1452 RUNX2 860 HP:0000347 Micrognathia ORPHANET:1452 RUNX2 860 HP:0002650 Scoliosis ORPHANET:1452 RUNX2 860 HP:0004349 Reduced bone mineral density ORPHANET:1452 RUNX2 860 HP:0002652 Skeletal dysplasia ORPHANET:1452 RUNX2 860 HP:0000388 Otitis media ORPHANET:1452 RUNX2 860 HP:0004322 Short stature ORPHANET:1452 RUNX2 860 HP:0000365 Hearing impairment ORPHANET:1452 RUNX2 860 HP:0002007 Frontal bossing ORPHANET:1452 RUNX2 860 HP:0000689 Dental malocclusion ORPHANET:1452 RUNX2 860 HP:0005930 Abnormality of epiphysis morphology ORPHANET:1452 RUNX2 860 HP:0002757 Recurrent fractures ORPHANET:1452 RUNX2 860 HP:0002205 Recurrent respiratory infections ORPHANET:1452 RUNX2 860 HP:0011069 Increased number of teeth ORPHANET:1452 RUNX2 860 HP:0003043 Abnormality of the shoulder ORPHANET:1452 RUNX2 860 HP:0000316 Hypertelorism ORPHANET:1452 RUNX2 860 HP:0000256 Macrocephaly ORPHANET:1452 RUNX2 860 HP:0001182 Tapered finger ORPHANET:1452 RUNX2 860 HP:0000889 Abnormality of the clavicle ORPHANET:1452 RUNX2 860 HP:0002644 Abnormality of pelvic girdle bone morphology ORPHANET:1452 RUNX2 860 HP:0004331 Decreased skull ossification OMIM:231070 GORAB 92344 HP:0002982 Tibial bowing OMIM:231070 GORAB 92344 HP:0000303 Mandibular prognathia OMIM:231070 GORAB 92344 HP:0000963 Thin skin OMIM:231070 GORAB 92344 HP:0005930 Abnormality of epiphysis morphology OMIM:231070 GORAB 92344 HP:0002953 Vertebral compression fractures OMIM:231070 GORAB 92344 HP:0004568 Beaking of vertebral bodies OMIM:231070 GORAB 92344 HP:0002645 Wormian bones OMIM:231070 GORAB 92344 HP:0003272 Abnormality of the hip bone OMIM:231070 GORAB 92344 HP:0002650 Scoliosis OMIM:231070 GORAB 92344 HP:0001763 Pes planus OMIM:231070 GORAB 92344 HP:0100790 Hernia OMIM:231070 GORAB 92344 HP:0001249 Intellectual disability OMIM:231070 GORAB 92344 HP:0100543 Cognitive impairment OMIM:231070 GORAB 92344 HP:0001382 Joint hypermobility OMIM:231070 GORAB 92344 HP:0000973 Cutis laxa OMIM:231070 GORAB 92344 HP:0000252 Microcephaly OMIM:231070 GORAB 92344 HP:0004322 Short stature OMIM:231070 GORAB 92344 HP:0010669 Cheekbone underdevelopment OMIM:231070 GORAB 92344 HP:0001883 Talipes OMIM:231070 GORAB 92344 HP:0004586 Biconcave vertebral bodies OMIM:231070 GORAB 92344 HP:0000938 Osteopenia OMIM:231070 GORAB 92344 HP:0000704 Periodontitis OMIM:231070 GORAB 92344 HP:0003510 Severe short stature OMIM:231070 GORAB 92344 HP:0012385 Camptodactyly OMIM:231070 GORAB 92344 HP:0001252 Muscular hypotonia OMIM:231070 GORAB 92344 HP:0004349 Reduced bone mineral density OMIM:231070 GORAB 92344 HP:0000926 Platyspondyly OMIM:231070 GORAB 92344 HP:0000272 Malar flattening OMIM:231070 GORAB 92344 HP:0000974 Hyperextensible skin OMIM:231070 GORAB 92344 HP:0002757 Recurrent fractures OMIM:231070 GORAB 92344 HP:0000750 Delayed speech and language development OMIM:231070 GORAB 92344 HP:0007495 Prematurely aged appearance OMIM:231070 GORAB 92344 HP:0002980 Femoral bowing OMIM:231070 GORAB 92344 HP:0000939 Osteoporosis OMIM:231070 GORAB 92344 HP:0000007 Autosomal recessive inheritance OMIM:231070 GORAB 92344 HP:0001187 Hyperextensibility of the finger joints OMIM:231070 GORAB 92344 HP:0000768 Pectus carinatum OMIM:231070 GORAB 92344 HP:0000490 Deeply set eye OMIM:231070 GORAB 92344 HP:0000482 Microcornea OMIM:231070 GORAB 92344 HP:0000327 Hypoplasia of the maxilla OMIM:615343 CAV1 857 HP:0003829 Incomplete penetrance OMIM:615343 CAV1 857 HP:0005317 Increased pulmonary vascular resistance OMIM:615343 CAV1 857 HP:0002092 Pulmonary hypertension OMIM:615343 CAV1 857 HP:0000006 Autosomal dominant inheritance OMIM:615343 CAV1 857 HP:0002094 Dyspnea