TaoMedAI/RareMedData huggingface dataset:
Gene: DHDDS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 59 (OMIM:613861)
Gene: DHDDS
Phenotype: Tremor (HP:0001337)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Tremor (HP:0001337)
Associated disease: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES (OMIM:617836)
Gene: DHDDS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES (OMIM:617836)
Gene: DHDDS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHDDS
Phenotype: Myoclonus (HP:0001336)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHDDS
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 59 (OMIM:613861)
Gene: DHDDS
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHDDS
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: RETINITIS PIGMENTOSA 59 (OMIM:613861)
Gene: DHDDS
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES (OMIM:617836)
Gene: DHDDS
Phenotype: Bradykinesia (HP:0002067)
Associated disease: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES (OMIM:617836)
Gene: DHDDS
Phenotype: Rigidity (HP:0002063)
Associated disease: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES (OMIM:617836)
Gene: DHDDS
Phenotype: Rigidity (HP:0002063)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES (OMIM:617836)
Gene: DHDDS
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: RETINITIS PIGMENTOSA 59 (OMIM:613861)
Gene: DHDDS
Phenotype: Impulsivity (HP:0100710)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES (OMIM:617836)
Gene: DHDDS
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: RETINITIS PIGMENTOSA 59 (OMIM:613861)
Gene: DHDDS
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES (OMIM:617836)
Gene: DHDDS
Phenotype: Developmental regression (HP:0002376)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: EEG abnormality (HP:0002353)
Associated disease: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES (OMIM:617836)
Gene: DHDDS
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: EEG with multifocal slow activity (HP:0010844)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHDDS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 59 (OMIM:613861)
Gene: DHDDS
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 59 (OMIM:613861)
Gene: DHDDS
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHDDS
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Short stature (HP:0004322)
Associated disease: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES (OMIM:617836)
Gene: DHDDS
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES (OMIM:617836)
Gene: DHDDS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHDDS
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHDDS
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: RETINITIS PIGMENTOSA 59 (OMIM:613861)
Gene: DHDDS
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHDDS
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Failure to thrive (HP:0001508)
Associated disease: RETINITIS PIGMENTOSA 59 (OMIM:613861)
Gene: DHDDS
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: RETINITIS PIGMENTOSA 59 (OMIM:613861)
Gene: DHDDS
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHDDS
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: RETINITIS PIGMENTOSA 59 (OMIM:613861)
Gene: DHDDS
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Myoclonic absence seizure (HP:0011150)
Associated disease: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES (OMIM:617836)
Gene: DHDDS
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: RETINITIS PIGMENTOSA 59 (OMIM:613861)
Gene: DHDDS
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 59 (OMIM:613861)
Gene: DHDDS
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHDDS
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHDDS
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DHDDS
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: DHDDS
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHDDS
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDZD7
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDZD7
Phenotype: Ataxia (HP:0001251)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: PDZD7
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: PDZD7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: USHER SYNDROME, TYPE IIA (OMIM:276901)
Gene: PDZD7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDZD7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 57 (OMIM:618003)
Gene: PDZD7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: USHER SYNDROME, TYPE IIC (OMIM:605472)
Gene: PDZD7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDZD7
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: PDZD7
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDZD7
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDZD7
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: PDZD7
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 57 (OMIM:618003)
Gene: PDZD7
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: PDZD7
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: USHER SYNDROME, TYPE IIA (OMIM:276901)
Gene: PDZD7
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: USHER SYNDROME, TYPE IIC (OMIM:605472)
Gene: PDZD7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDZD7
Phenotype: Nystagmus (HP:0000639)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: PDZD7
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: PDZD7
Phenotype: Microdontia (HP:0000691)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: PDZD7
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: PDZD7
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDZD7
Phenotype: Carious teeth (HP:0000670)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: PDZD7
Phenotype: Hallucinations (HP:0000738)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: PDZD7
Phenotype: Anxiety (HP:0000739)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: PDZD7
Phenotype: Depression (HP:0000716)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: PDZD7
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDZD7
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 57 (OMIM:618003)
Gene: PDZD7
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDZD7
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDZD7
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: PDZD7
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDZD7
Phenotype: Abnormality of dental color (HP:0011073)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: PDZD7
Phenotype: Hemianopia (HP:0012377)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: PDZD7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 57 (OMIM:618003)
Gene: PDZD7
Phenotype: Abnormality of the inner ear (HP:0000359)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: PDZD7
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 57 (OMIM:618003)
Gene: PDZD7
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: PDZD7
Phenotype: Abnormal retinal morphology (HP:0000479)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 57 (OMIM:618003)
Gene: PDZD7
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 57 (OMIM:618003)
Gene: PDZD7
Phenotype: Cataract (HP:0000518)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: PDZD7
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDZD7
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: USHER SYNDROME, TYPE IIA (OMIM:276901)
Gene: PDZD7
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: USHER SYNDROME, TYPE IIC (OMIM:605472)
Gene: PDZD7
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: PDZD7
Phenotype: Visual impairment (HP:0000505)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 57 (OMIM:618003)
Gene: PDZD7
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDZD7
Phenotype: Scotoma (HP:0000575)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: PDZD7
Phenotype: Visual loss (HP:0000572)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: PDZD7
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDZD7
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDZD7
Phenotype: Myopia (HP:0000545)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: SCD5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 79 (OMIM:619086)
Gene: SCD5
Phenotype: Adult onset (HP:0003581)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 79 (OMIM:619086)
Gene: SCD5
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 79 (OMIM:619086)
Gene: SCD5
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 79 (OMIM:619086)
Gene: WLS
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Long fingers (HP:0100807)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Hypertonia (HP:0001276)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Seizure (HP:0001250)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Hypotonia (HP:0001252)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Scoliosis (HP:0002650)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Wide mouth (HP:0000154)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Renal agenesis (HP:0000104)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Spastic gait (HP:0002064)
Associated disease: ZAKI SYNDROME (OMIM:619648)
Gene: WLS
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: ZAKI SYNDROME (OMIM:619648)