TaoMedAI/RareMedData huggingface dataset:
Gene: IFT74
Phenotype: Asthma (HP:0002099)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Polydactyly (HP:0010442)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:617119)
Gene: IFT74
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: IFT74
Phenotype: Apnea (HP:0002104)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: IFT74
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: IFT74
Phenotype: Congenital onset (HP:0003577)
Associated disease: JOUBERT SYNDROME 40 (OMIM:619582)
Gene: IFT74
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: IFT74
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Irregularly shaped sperm tail (HP:0033393)
Associated disease: SPERMATOGENIC FAILURE 58 (OMIM:619585)
Gene: IFT74
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT74
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Nystagmus (HP:0000639)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Nystagmus (HP:0000639)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: IFT74
Phenotype: Blindness (HP:0000618)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Photophobia (HP:0000613)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Iris coloboma (HP:0000612)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: IFT74
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: JOUBERT SYNDROME 40 (OMIM:619582)
Gene: IFT74
Phenotype: Reduced progressive sperm motility (HP:0034011)
Associated disease: SPERMATOGENIC FAILURE 58 (OMIM:619585)
Gene: IFT74
Phenotype: Dental crowding (HP:0000678)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Microdontia (HP:0000691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT74
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: JOUBERT SYNDROME 40 (OMIM:619582)
Gene: IFT74
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: IFT74
Phenotype: Hypodontia (HP:0000668)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Short stature (HP:0004322)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: IFT74
Phenotype: Anxiety (HP:0000739)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Short attention span (HP:0000736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:617119)
Gene: IFT74
Phenotype: Depression (HP:0000716)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Autism (HP:0000717)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Emotional lability (HP:0000712)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Atypical behavior (HP:0000708)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT74
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT74
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 58 (OMIM:619585)
Gene: IFT74
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 58 (OMIM:619585)
Gene: IFT74
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Infertility (HP:0000789)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Fifth finger distal phalanx clinodactyly (HP:0005769)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: IFT74
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: IFT74
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Hypertension (HP:0000822)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 58 (OMIM:619585)
Gene: IFT74
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: JOUBERT SYNDROME 40 (OMIM:619582)
Gene: IFT74
Phenotype: Retrognathia (HP:0000278)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Macrocephaly (HP:0000256)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:617119)
Gene: IFT74
Phenotype: Long face (HP:0000276)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: IFT74
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT74
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: IFT74
Phenotype: Microcephaly (HP:0000252)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:617119)
Gene: IFT74
Phenotype: Immotile sperm (HP:0012208)
Associated disease: SPERMATOGENIC FAILURE 58 (OMIM:619585)
Gene: IFT74
Phenotype: High palate (HP:0000218)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: IFT74
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: IFT74
Phenotype: Large for gestational age (HP:0001520)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:617119)
Gene: IFT74
Phenotype: Obesity (HP:0001513)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Obesity (HP:0001513)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:617119)
Gene: IFT74
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT74
Phenotype: Impaired fasting glucose (HP:0025691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Rhinitis (HP:0012384)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Aplasia/Hypoplasia of the vagina (HP:0011026)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Otitis media (HP:0000388)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: JOUBERT SYNDROME 40 (OMIM:619582)
Gene: IFT74
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: IFT74
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Low-set ears (HP:0000369)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: IFT74
Phenotype: Long philtrum (HP:0000343)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Macular hypopigmentation (HP:0007988)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:617119)
Gene: IFT74
Phenotype: Macrotia (HP:0000400)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: JOUBERT SYNDROME 40 (OMIM:619582)
Gene: IFT74
Phenotype: Astigmatism (HP:0000483)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Strabismus (HP:0000486)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Strabismus (HP:0000486)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: IFT74
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: IFT74
Phenotype: Short neck (HP:0000470)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: IFT74
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Cataract (HP:0000518)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT74
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:617119)
Gene: IFT74
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: IFT74
Phenotype: Ptosis (HP:0000508)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: IFT74
Phenotype: Visual impairment (HP:0000505)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:617119)
Gene: IFT74
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: BARDET-BIEDL SYNDROME 20 (OMIM:617119)
Gene: IFT74
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT74
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Color vision defect (HP:0000551)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: IFT74
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT74
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP290
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CEP290
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP290
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CEP290
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: MECKEL SYNDROME, TYPE 4 (OMIM:611134)
Gene: CEP290
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: CEP290
Phenotype: Syndactyly (HP:0001159)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP290
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP290
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CEP290
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: JOUBERT SYNDROME 5 (OMIM:610188)
Gene: CEP290
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: SENIOR-LOKEN SYNDROME 6 (OMIM:610189)
Gene: CEP290
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: CEP290
Phenotype: Meningocele (HP:0002435)
Associated disease: MECKEL SYNDROME, TYPE 4 (OMIM:611134)
Gene: CEP290
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JOUBERT SYNDROME 5 (OMIM:610188)
Gene: CEP290
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: MECKEL SYNDROME, TYPE 4 (OMIM:611134)
Gene: CEP290
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: CEP290
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP290
Phenotype: Thickened superior cerebellar peduncle (HP:0002404)
Associated disease: JOUBERT SYNDROME 5 (OMIM:610188)
Gene: CEP290
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP290
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: JOUBERT SYNDROME 5 (OMIM:610188)
Gene: CEP290
Phenotype: Motor delay (HP:0001270)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CEP290
Phenotype: Seizure (HP:0001250)
Associated disease: LEBER CONGENITAL AMAUROSIS 10 (OMIM:611755)
Gene: CEP290
Phenotype: Seizure (HP:0001250)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CEP290
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: CEP290
Phenotype: Seizure (HP:0001250)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP290
Phenotype: Hypotonia (HP:0001252)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CEP290
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: CEP290
Phenotype: Hypotonia (HP:0001252)
Associated disease: JOUBERT SYNDROME 5 (OMIM:610188)
Gene: CEP290
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP290
Phenotype: Ataxia (HP:0001251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP290
Phenotype: Ataxia (HP:0001251)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: CEP290
Phenotype: Ataxia (HP:0001251)
Associated disease: JOUBERT SYNDROME 5 (OMIM:610188)
Gene: CEP290
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: CEP290
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CEP290
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: CEP290
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BARDET-BIEDL SYNDROME 14 (OMIM:615991)
Gene: CEP290
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP290
Phenotype: Intellectual disability (HP:0001249)
Associated disease: JOUBERT SYNDROME 5 (OMIM:610188)
Gene: CEP290
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP290
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: CEP290
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CEP290
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: CEP290
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BARDET-BIEDL SYNDROME 14 (OMIM:615991)
Gene: CEP290
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JOUBERT SYNDROME 5 (OMIM:610188)
Gene: CEP290
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP290
Phenotype: Spasticity (HP:0001257)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP290
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP290
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP290
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP290
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CEP290
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: CEP290
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: CEP290
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: CEP290
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)