TaoMedAI/RareMedData huggingface dataset:
Gene: CPLX1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Epicanthus (HP:0000286)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Abnormality of the philtrum (HP:0000288)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Kyphosis (HP:0002808)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Microcephaly (HP:0000252)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Growth delay (HP:0001510)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Abnormality of the gallbladder (HP:0005264)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: High forehead (HP:0000348)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: High forehead (HP:0000348)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Micrognathia (HP:0000347)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Short philtrum (HP:0000322)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Short philtrum (HP:0000322)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: EEG with generalized epileptiform discharges (HP:0011198)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: EEG with focal spike waves (HP:0011197)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Rib segmentation abnormalities (HP:0006655)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Rib segmentation abnormalities (HP:0006655)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Strabismus (HP:0000486)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Strabismus (HP:0000486)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Strabismus (HP:0000486)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Megalocornea (HP:0000485)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Webbed neck (HP:0000465)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Accessory spleen (HP:0001747)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Aplasia/Hypoplasia of the nipples (HP:0006709)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Overlapping toe (HP:0001845)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: CPLX1
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Proptosis (HP:0000520)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Proptosis (HP:0000520)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Proptosis (HP:0000520)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: CPLX1
Phenotype: Ptosis (HP:0000508)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Ptosis (HP:0000508)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CPLX1
Phenotype: Hyperconvex fingernails (HP:0001812)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Rieger anomaly (HP:0000558)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CPLX1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Gene: FTCD
Phenotype: Abnormal circulating histidine concentration (HP:0010904)
Associated disease: Formiminotransferase cyclodeaminase deficiency; Formiminoglutamic aciduria; Glutamate formiminotransferase deficiency; FTCD deficiency (ORPHA:51208)
Gene: FTCD
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Formiminotransferase cyclodeaminase deficiency; Formiminoglutamic aciduria; Glutamate formiminotransferase deficiency; FTCD deficiency (ORPHA:51208)
Gene: FTCD
Phenotype: Abnormal concentration of acylcarnitine in the urine (HP:0500170)
Associated disease: Formiminotransferase cyclodeaminase deficiency; Formiminoglutamic aciduria; Glutamate formiminotransferase deficiency; FTCD deficiency (ORPHA:51208)
Gene: FTCD
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY (OMIM:229100)
Gene: FTCD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY (OMIM:229100)
Gene: FTCD
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY (OMIM:229100)
Gene: FTCD
Phenotype: Hypersegmentation of neutrophil nuclei (HP:0004821)
Associated disease: GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY (OMIM:229100)
Gene: FTCD
Phenotype: Increased blood folate concentration (HP:0032164)
Associated disease: Formiminotransferase cyclodeaminase deficiency; Formiminoglutamic aciduria; Glutamate formiminotransferase deficiency; FTCD deficiency (ORPHA:51208)
Gene: FTCD
Phenotype: Positive ferric chloride test (HP:0003612)
Associated disease: GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY (OMIM:229100)
Gene: FTCD
Phenotype: Elevated urinary formiminoglutamic acid level (HP:0034742)
Associated disease: GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY (OMIM:229100)
Gene: FTCD
Phenotype: Anemia (HP:0001903)
Associated disease: Formiminotransferase cyclodeaminase deficiency; Formiminoglutamic aciduria; Glutamate formiminotransferase deficiency; FTCD deficiency (ORPHA:51208)
Gene: FTCD
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Formiminotransferase cyclodeaminase deficiency; Formiminoglutamic aciduria; Glutamate formiminotransferase deficiency; FTCD deficiency (ORPHA:51208)
Gene: FTCD
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Formiminotransferase cyclodeaminase deficiency; Formiminoglutamic aciduria; Glutamate formiminotransferase deficiency; FTCD deficiency (ORPHA:51208)
Gene: FTCD
Phenotype: Autism (HP:0000717)
Associated disease: Formiminotransferase cyclodeaminase deficiency; Formiminoglutamic aciduria; Glutamate formiminotransferase deficiency; FTCD deficiency (ORPHA:51208)
Gene: FTCD
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Formiminotransferase cyclodeaminase deficiency; Formiminoglutamic aciduria; Glutamate formiminotransferase deficiency; FTCD deficiency (ORPHA:51208)
Gene: FTCD
Phenotype: Growth delay (HP:0001510)
Associated disease: GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY (OMIM:229100)
Gene: FTCD
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Formiminotransferase cyclodeaminase deficiency; Formiminoglutamic aciduria; Glutamate formiminotransferase deficiency; FTCD deficiency (ORPHA:51208)
Gene: FTCD
Phenotype: Abnormality of folate metabolism (HP:0012335)
Associated disease: Formiminotransferase cyclodeaminase deficiency; Formiminoglutamic aciduria; Glutamate formiminotransferase deficiency; FTCD deficiency (ORPHA:51208)
Gene: FTCD
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Formiminotransferase cyclodeaminase deficiency; Formiminoglutamic aciduria; Glutamate formiminotransferase deficiency; FTCD deficiency (ORPHA:51208)
Gene: FTCD
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: Formiminotransferase cyclodeaminase deficiency; Formiminoglutamic aciduria; Glutamate formiminotransferase deficiency; FTCD deficiency (ORPHA:51208)
Gene: FTCD
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY (OMIM:229100)
Gene: PPP1R17
Phenotype: Xanthelasma (HP:0001114)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: PPP1R17
Phenotype: Tendon xanthomatosis (HP:0010874)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: PPP1R17
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: PPP1R17
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: PPP1R17
Phenotype: Corneal arcus (HP:0001084)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: PPP1R17
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: PPP1R17
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: TUBGCP2
Phenotype: Subependymal cysts (HP:0002416)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Spasticity (HP:0001257)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Subcortical band heterotopia (HP:0032409)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Pachygyria (HP:0001302)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Widely-spaced incisors (HP:0006304)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Infantile onset (HP:0003593)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Synophrys (HP:0000664)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Protruding ear (HP:0000411)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: TUBGCP2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Gene: CLPX
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 2 (OMIM:618015)
Gene: CLPX
Phenotype: Increased erythrocyte protoporphyrin concentration (HP:0012187)
Associated disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 2 (OMIM:618015)
Gene: CLPX
Phenotype: Infantile onset (HP:0003593)
Associated disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 2 (OMIM:618015)
Gene: CLPX
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 2 (OMIM:618015)
Gene: CLPX
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 2 (OMIM:618015)
Gene: PDE10A
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET (OMIM:616921)
Gene: PDE10A
Phenotype: Motor delay (HP:0001270)
Associated disease: Infantile-onset orofacial-trunk-limbs dyskinesia; Infantile-onset generalized dyskinesia with orofacial involvement (ORPHA:494526)
Gene: PDE10A
Phenotype: Motor delay (HP:0001270)
Associated disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET (OMIM:616921)
Gene: PDE10A
Phenotype: Mental deterioration (HP:0001268)
Associated disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 (OMIM:616922)
Gene: PDE10A
Phenotype: Seizure (HP:0001250)
Associated disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET (OMIM:616921)