TaoMedAI/RareMedData huggingface dataset:
Gene: WDR35
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Horizontal ribs (HP:0000888)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Hypertension (HP:0000822)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Bifid tongue (HP:0010297)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Absent or minimally ossified vertebral bodies (HP:0004599)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Short thorax (HP:0010306)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Cutis laxa (HP:0000973)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Osteoporosis (HP:0000939)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Abnormal diaphysis morphology (HP:0000940)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Sparse hair (HP:0008070)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Sparse hair (HP:0008070)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Sparse hair (HP:0008070)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Epicanthus (HP:0000286)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Epicanthus (HP:0000286)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Epicanthus (HP:0000286)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Epicanthus (HP:0000286)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Retrognathia (HP:0000278)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Full cheeks (HP:0000293)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Broad philtrum (HP:0000289)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Prominent occiput (HP:0000269)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Clinodactyly (HP:0030084)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: High palate (HP:0000218)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: High palate (HP:0000218)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Short lingual frenulum (HP:0000200)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Ascites (HP:0001541)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Omphalocele (HP:0001539)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Fused teeth (HP:0011090)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Fused teeth (HP:0011090)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Portal fibrosis (HP:0006580)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Low-set ears (HP:0000369)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Narrow forehead (HP:0000341)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Long philtrum (HP:0000343)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: High forehead (HP:0000348)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Micrognathia (HP:0000347)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Micrognathia (HP:0000347)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Micromelia (HP:0002983)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Micromelia (HP:0002983)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Cholangitis (HP:0030151)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Thoracic dysplasia (HP:0006644)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Strabismus (HP:0000486)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR35
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Gene: WDR35
Phenotype: Short neck (HP:0000470)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Short foot (HP:0001773)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Wide nose (HP:0000445)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Polysplenia (HP:0001748)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Cataract (HP:0000518)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: WDR35
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Telecanthus (HP:0000506)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Hypermetropia (HP:0000540)
Associated disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Gene: WDR35
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR35
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR35
Phenotype: Myopia (HP:0000545)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: CC2D2A
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: CC2D2A
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: MECKEL SYNDROME, TYPE 6 (OMIM:612284)
Gene: CC2D2A
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: CC2D2A
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CC2D2A
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 93 (OMIM:619845)
Gene: CC2D2A
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: JOUBERT SYNDROME 9 (OMIM:612285)
Gene: CC2D2A
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CC2D2A
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JOUBERT SYNDROME 9 (OMIM:612285)
Gene: CC2D2A
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: COACH SYNDROME 2 (OMIM:619111)
Gene: CC2D2A
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: CC2D2A
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CC2D2A
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CC2D2A
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: COACH SYNDROME 2 (OMIM:619111)
Gene: CC2D2A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: CC2D2A
Phenotype: Seizure (HP:0001250)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: CC2D2A
Phenotype: Seizure (HP:0001250)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: CC2D2A
Phenotype: Seizure (HP:0001250)
Associated disease: JOUBERT SYNDROME 9 (OMIM:612285)
Gene: CC2D2A
Phenotype: Hypotonia (HP:0001252)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: CC2D2A
Phenotype: Hypotonia (HP:0001252)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: CC2D2A
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CC2D2A
Phenotype: Ataxia (HP:0001251)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: CC2D2A
Phenotype: Ataxia (HP:0001251)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: CC2D2A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: CC2D2A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COACH SYNDROME 2 (OMIM:619111)
Gene: CC2D2A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CC2D2A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: JOUBERT SYNDROME 9 (OMIM:612285)
Gene: CC2D2A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: CC2D2A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COACH SYNDROME 2 (OMIM:619111)
Gene: CC2D2A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CC2D2A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JOUBERT SYNDROME 9 (OMIM:612285)
Gene: CC2D2A
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: CC2D2A
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: CC2D2A
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: CC2D2A
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: CC2D2A
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: CC2D2A
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CC2D2A
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: CC2D2A
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: CC2D2A
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: MECKEL SYNDROME, TYPE 6 (OMIM:612284)
Gene: CC2D2A
Phenotype: Urethral atresia (HP:0000068)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: JOUBERT SYNDROME 9 (OMIM:612285)
Gene: CC2D2A
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: COACH SYNDROME 2 (OMIM:619111)
Gene: CC2D2A
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: MECKEL SYNDROME, TYPE 6 (OMIM:612284)
Gene: CC2D2A
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Joubert syndrome with congenital hepatic fibrosis; JS-H; Joubert syndrome with hepatic defect; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; COACH syndrome (ORPHA:1454)
Gene: CC2D2A
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)