TaoMedAI/RareMedData huggingface dataset:
Gene: CFAP418
Phenotype: High palate (HP:0000218)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Overweight (HP:0025502)
Associated disease: BARDET-BIEDL SYNDROME 21 (OMIM:617406)
Gene: CFAP418
Phenotype: Obesity (HP:0001513)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Obesity (HP:0001513)
Associated disease: BARDET-BIEDL SYNDROME 21 (OMIM:617406)
Gene: CFAP418
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP418
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: CONE-ROD DYSTROPHY 16 (OMIM:614500)
Gene: CFAP418
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP418
Phenotype: Impaired fasting glucose (HP:0025691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Rhinitis (HP:0012384)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Aplasia/Hypoplasia of the vagina (HP:0011026)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Otitis media (HP:0000388)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BARDET-BIEDL SYNDROME 21 (OMIM:617406)
Gene: CFAP418
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Long philtrum (HP:0000343)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Abnormality of fundus pigmentation (HP:0031605)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CFAP418
Phenotype: Retinal thinning (HP:0030329)
Associated disease: BARDET-BIEDL SYNDROME 21 (OMIM:617406)
Gene: CFAP418
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Macrotia (HP:0000400)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Astigmatism (HP:0000483)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Strabismus (HP:0000486)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Short neck (HP:0000470)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP418
Phenotype: Cataract (HP:0000518)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Cataract (HP:0000518)
Associated disease: CONE-ROD DYSTROPHY 16 (OMIM:614500)
Gene: CFAP418
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: CONE-ROD DYSTROPHY 16 (OMIM:614500)
Gene: CFAP418
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP418
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CFAP418
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: BARDET-BIEDL SYNDROME 21 (OMIM:617406)
Gene: CFAP418
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: CONE-ROD DYSTROPHY 16 (OMIM:614500)
Gene: CFAP418
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP418
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP418
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP418
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Color vision defect (HP:0000551)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP418
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: CONE-ROD DYSTROPHY 16 (OMIM:614500)
Gene: CFAP418
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: BARDET-BIEDL SYNDROME 21 (OMIM:617406)
Gene: CFAP418
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP418
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: CONE-ROD DYSTROPHY 16 (OMIM:614500)
Gene: CFAP418
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP418
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP418
Phenotype: Myopia (HP:0000545)
Associated disease: BARDET-BIEDL SYNDROME 21 (OMIM:617406)
Gene: VPS13B
Phenotype: Tapered finger (HP:0001182)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Tapered finger (HP:0001182)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VPS13B
Phenotype: Chorioretinal dystrophy (HP:0001135)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Chorioretinal dystrophy (HP:0001135)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Aplasia/Hypoplasia of the earlobes (HP:0009906)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Motor delay (HP:0001270)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Seizure (HP:0001250)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Seizure (HP:0001250)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Hypotonia (HP:0001252)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Hypotonia (HP:0001252)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Thick hair (HP:0100874)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VPS13B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VPS13B
Phenotype: Scoliosis (HP:0002650)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Narrow palate (HP:0000189)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Open mouth (HP:0000194)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Open mouth (HP:0000194)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VPS13B
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VPS13B
Phenotype: High, narrow palate (HP:0002705)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Poor suck (HP:0002033)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Thick corpus callosum (HP:0007074)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Cat cry (HP:0200046)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Short metatarsal (HP:0010743)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Neonatal onset (HP:0003623)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VPS13B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Narrow palm (HP:0004283)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Narrow palm (HP:0004283)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Optic atrophy (HP:0000648)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Truncal obesity (HP:0001956)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Short metacarpal (HP:0010049)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Macrodontia of permanent maxillary central incisor (HP:0000675)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Nyctalopia (HP:0000662)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VPS13B
Phenotype: Slender toe (HP:0011308)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Short stature (HP:0004322)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Short stature (HP:0004322)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Autistic behavior (HP:0000729)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VPS13B
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VPS13B
Phenotype: Bull's eye maculopathy (HP:0011504)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Delayed puberty (HP:0000823)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Aplasia/Hypoplasia of the tongue (HP:0010295)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VPS13B
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Kyphosis (HP:0002808)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Macrodontia (HP:0001572)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Microcephaly (HP:0000252)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Microcephaly (HP:0000252)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Genu valgum (HP:0002857)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Genu valgum (HP:0002857)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Small for gestational age (HP:0001518)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Obesity (HP:0001513)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VPS13B
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Weak cry (HP:0001612)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Micrognathia (HP:0000347)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Micrognathia (HP:0000347)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Short philtrum (HP:0000322)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Short philtrum (HP:0000322)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Strabismus (HP:0000486)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Narrow foot (HP:0001786)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Pes planus (HP:0001763)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VPS13B
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Sandal gap (HP:0001852)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Visual impairment (HP:0000505)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VPS13B
Phenotype: Prominent eyelashes (HP:0011231)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VPS13B
Phenotype: Myopia (HP:0000545)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VPS13B
Phenotype: Myopia (HP:0000545)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: VPS13B
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: COHEN SYNDROME (OMIM:216550)
Gene: VPS13B
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Cohen syndrome (ORPHA:193)
Gene: KCNU1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 79 (OMIM:620196)
Gene: KCNU1
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 79 (OMIM:620196)
Gene: KCNU1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 79 (OMIM:620196)
Gene: KCNU1
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 79 (OMIM:620196)
Gene: KCNU1
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 79 (OMIM:620196)
Gene: KCNU1
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 79 (OMIM:620196)
Gene: CAMSAP1
Phenotype: Dysgenesis of the basal ganglia (HP:0025102)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Seizure (HP:0001250)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)
Gene: CAMSAP1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 (OMIM:620316)