TaoMedAI/RareMedData huggingface dataset:
Gene: CC2D2A
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
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: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
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: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CC2D2A
Phenotype: Abnormal internal genitalia (HP:0000812)
Associated disease: MECKEL SYNDROME, TYPE 6 (OMIM:612284)
Gene: CC2D2A
Phenotype: Hypertension (HP:0000822)
Associated disease: COACH SYNDROME 2 (OMIM:619111)
Gene: CC2D2A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CC2D2A
Phenotype: Aplasia/Hypoplasia of the tongue (HP:0010295)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CC2D2A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CC2D2A
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: COACH SYNDROME 2 (OMIM:619111)
Gene: CC2D2A
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CC2D2A
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CC2D2A
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CC2D2A
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CC2D2A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CC2D2A
Phenotype: Full cheeks (HP:0000293)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Macrocephaly (HP:0000256)
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: Long face (HP:0000276)
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: Long face (HP:0000276)
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: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CC2D2A
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CC2D2A
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CC2D2A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CC2D2A
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: COACH SYNDROME 2 (OMIM:619111)
Gene: CC2D2A
Phenotype: Hydrocephalus (HP:0000238)
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: Hydrocephalus (HP:0000238)
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: Hydrocephalus (HP:0000238)
Associated disease: MECKEL SYNDROME, TYPE 6 (OMIM:612284)
Gene: CC2D2A
Phenotype: Neoplasm of the liver (HP:0002896)
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: Microcephaly (HP:0000252)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CC2D2A
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: JOUBERT SYNDROME 9 (OMIM:612285)
Gene: CC2D2A
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CC2D2A
Phenotype: Orofacial cleft (HP:0000202)
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: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CC2D2A
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: MECKEL SYNDROME, TYPE 6 (OMIM:612284)
Gene: CC2D2A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CC2D2A
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CC2D2A
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CC2D2A
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CC2D2A
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CC2D2A
Phenotype: Portal fibrosis (HP:0006580)
Associated disease: COACH SYNDROME 2 (OMIM:619111)
Gene: CC2D2A
Phenotype: Intrahepatic biliary atresia (HP:0005248)
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: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CC2D2A
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
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: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: COACH SYNDROME 2 (OMIM:619111)
Gene: CC2D2A
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CC2D2A
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Posteriorly rotated ears (HP:0000358)
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: Low-set ears (HP:0000369)
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: Sloping forehead (HP:0000340)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CC2D2A
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CC2D2A
Phenotype: Micrognathia (HP:0000347)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CC2D2A
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CC2D2A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CC2D2A
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CC2D2A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CC2D2A
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CC2D2A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CC2D2A
Phenotype: Astigmatism (HP:0000483)
Associated disease: JOUBERT SYNDROME 9 (OMIM:612285)
Gene: CC2D2A
Phenotype: Strabismus (HP:0000486)
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: Strabismus (HP:0000486)
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: Strabismus (HP:0000486)
Associated disease: COACH SYNDROME 2 (OMIM:619111)
Gene: CC2D2A
Phenotype: Microcornea (HP:0000482)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Anteverted nares (HP:0000463)
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: Anteverted nares (HP:0000463)
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: Depressed nasal ridge (HP:0000457)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CC2D2A
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CC2D2A
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CC2D2A
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CC2D2A
Phenotype: Asplenia (HP:0001746)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Accessory spleen (HP:0001747)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Splenomegaly (HP:0001744)
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: Talipes equinovarus (HP:0001762)
Associated disease: MECKEL SYNDROME, TYPE 6 (OMIM:612284)
Gene: CC2D2A
Phenotype: Prominent nasal bridge (HP:0000426)
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: Prominent nasal bridge (HP:0000426)
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: Cystic liver disease (HP:0006706)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Cystic liver disease (HP:0006706)
Associated disease: MECKEL SYNDROME, TYPE 6 (OMIM:612284)
Gene: CC2D2A
Phenotype: Cataract (HP:0000518)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Cataract (HP:0000518)
Associated disease: JOUBERT SYNDROME 9 (OMIM:612285)
Gene: CC2D2A
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 93 (OMIM:619845)
Gene: CC2D2A
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CC2D2A
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CC2D2A
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CC2D2A
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CC2D2A
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CC2D2A
Phenotype: Foot polydactyly (HP:0001829)
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: Ptosis (HP:0000508)
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: Ptosis (HP:0000508)
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: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CC2D2A
Phenotype: Visual impairment (HP:0000505)
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: Visual impairment (HP:0000505)
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 foot polydactyly (HP:0001830)
Associated disease: MECKEL SYNDROME, TYPE 6 (OMIM:612284)
Gene: CC2D2A
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CC2D2A
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CC2D2A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CC2D2A
Phenotype: Coloboma (HP:0000589)
Associated disease: COACH SYNDROME 2 (OMIM:619111)
Gene: CC2D2A
Phenotype: Optic disc coloboma (HP:0000588)
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: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CC2D2A
Phenotype: Retinal dystrophy (HP:0000556)
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: Retinal dystrophy (HP:0000556)
Associated disease: JOUBERT SYNDROME 9 (OMIM:612285)
Gene: CC2D2A
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: COACH SYNDROME 2 (OMIM:619111)
Gene: CC2D2A
Phenotype: Chorioretinal coloboma (HP:0000567)
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: Chorioretinal coloboma (HP:0000567)
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: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CC2D2A
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: RETINITIS PIGMENTOSA 93 (OMIM:619845)
Gene: CC2D2A
Phenotype: Talipes (HP:0001883)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CC2D2A
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CC2D2A
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CC2D2A
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CC2D2A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CC2D2A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CC2D2A
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TAOK1
Phenotype: Anterior polar cataract (HP:0001134)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619575)
Gene: TAOK1
Phenotype: Frequent temper tantrums (HP:0025161)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619575)
Gene: TAOK1
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619575)
Gene: TAOK1
Phenotype: Motor delay (HP:0001270)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619575)
Gene: TAOK1
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619575)
Gene: TAOK1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619575)
Gene: TAOK1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619575)
Gene: TAOK1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619575)
Gene: TAOK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619575)
Gene: TAOK1
Phenotype: Hematochezia (HP:0002573)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619575)
Gene: TAOK1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619575)
Gene: TAOK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619575)
Gene: TAOK1
Phenotype: Head-banging (HP:0012168)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619575)
Gene: TAOK1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619575)
Gene: TAOK1
Phenotype: Large forehead (HP:0002003)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619575)
Gene: TAOK1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619575)
Gene: TAOK1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619575)
Gene: TAOK1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619575)
Gene: TAOK1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619575)
Gene: TAOK1
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619575)
Gene: TAOK1
Phenotype: Dilated third ventricle (HP:0007082)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619575)