TaoMedAI/RareMedData huggingface dataset:
Gene: SPATA7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPATA7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEBER CONGENITAL AMAUROSIS 3 (OMIM:604232)
Gene: SPATA7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPATA7
Phenotype: Eye poking (HP:0001483)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPATA7
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPATA7
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Encephalocele (HP:0002084)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Postural instability (HP:0002172)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEBER CONGENITAL AMAUROSIS 3 (OMIM:604232)
Gene: SPATA7
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Unsteady gait (HP:0002317)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Neonatal onset (HP:0003623)
Associated disease: LEBER CONGENITAL AMAUROSIS 3 (OMIM:604232)
Gene: SPATA7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPATA7
Phenotype: Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Nystagmus (HP:0000639)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Nystagmus (HP:0000639)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEBER CONGENITAL AMAUROSIS 3 (OMIM:604232)
Gene: SPATA7
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Photophobia (HP:0000613)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Photophobia (HP:0000613)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Blurred vision (HP:0000622)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Nyctalopia (HP:0000662)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPATA7
Phenotype: Nyctalopia (HP:0000662)
Associated disease: LEBER CONGENITAL AMAUROSIS 3 (OMIM:604232)
Gene: SPATA7
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Abnormal corneal endothelium morphology (HP:0011488)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Posterior synechiae of the anterior chamber (HP:0011484)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPATA7
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPATA7
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Granular macular appearance (HP:0007793)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPATA7
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Abnormal pupillary light reflex (HP:0007695)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Rhegmatogenous retinal detachment (HP:0012230)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPATA7
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Delayed early-childhood social milestone development (HP:0012434)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Cataract (HP:0000518)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPATA7
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Visual impairment (HP:0000505)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPATA7
Phenotype: Exotropia (HP:0000577)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Keratoconus (HP:0000563)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Visual loss (HP:0000572)
Associated disease: LEBER CONGENITAL AMAUROSIS 3 (OMIM:604232)
Gene: SPATA7
Phenotype: Retinal detachment (HP:0000541)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Color vision defect (HP:0000551)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPATA7
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPATA7
Phenotype: Myopia (HP:0000545)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: BDP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 112 (OMIM:618257)
Gene: BDP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 112 (OMIM:618257)
Gene: BDP1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 112 (OMIM:618257)
Gene: VPS11
Phenotype: Poor speech (HP:0002465)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
Gene: VPS11
Phenotype: Poor speech (HP:0002465)
Associated disease: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy; VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
Gene: VPS11
Phenotype: Limb dystonia (HP:0002451)
Associated disease: DYSTONIA 32 (OMIM:619637)
Gene: VPS11
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy; VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
Gene: VPS11
Phenotype: Developmental stagnation (HP:0007281)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
Gene: VPS11
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
Gene: VPS11
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy; VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
Gene: VPS11
Phenotype: Seizure (HP:0001250)
Associated disease: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy; VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
Gene: VPS11
Phenotype: Hypotonia (HP:0001252)
Associated disease: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy; VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
Gene: VPS11
Phenotype: Hypotonia (HP:0001252)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
Gene: VPS11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy; VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
Gene: VPS11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
Gene: VPS11
Phenotype: Dysarthria (HP:0001260)
Associated disease: DYSTONIA 32 (OMIM:619637)
Gene: VPS11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy; VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
Gene: VPS11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
Gene: VPS11
Phenotype: Spasticity (HP:0001257)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
Gene: VPS11
Phenotype: Spasticity (HP:0001257)
Associated disease: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy; VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
Gene: VPS11
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy; VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
Gene: VPS11
Phenotype: Laryngeal dystonia (HP:0012049)
Associated disease: DYSTONIA 32 (OMIM:619637)
Gene: VPS11
Phenotype: Flexion contracture (HP:0001371)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
Gene: VPS11
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
Gene: VPS11
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy; VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
Gene: VPS11
Phenotype: Absent speech (HP:0001344)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
Gene: VPS11
Phenotype: Absent speech (HP:0001344)
Associated disease: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy; VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
Gene: VPS11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DYSTONIA 32 (OMIM:619637)
Gene: VPS11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
Gene: VPS11
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
Gene: VPS11
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
Gene: VPS11
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy; VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
Gene: VPS11
Phenotype: Constipation (HP:0002019)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
Gene: VPS11
Phenotype: Constipation (HP:0002019)
Associated disease: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy; VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
Gene: VPS11
Phenotype: Dysphagia (HP:0002015)
Associated disease: DYSTONIA 32 (OMIM:619637)
Gene: VPS11
Phenotype: Temperature instability (HP:0005968)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
Gene: VPS11
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
Gene: VPS11
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy; VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
Gene: VPS11
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
Gene: VPS11
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy; VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
Gene: VPS11
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy; VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
Gene: VPS11
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
Gene: VPS11
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy; VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
Gene: VPS11
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
Gene: VPS11
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: DYSTONIA 32 (OMIM:619637)
Gene: VPS11
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy; VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
Gene: VPS11
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy; VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
Gene: VPS11
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
Gene: VPS11
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
Gene: VPS11
Phenotype: Optic atrophy (HP:0000648)
Associated disease: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy; VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
Gene: VPS11
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
Gene: VPS11
Phenotype: Young adult onset (HP:0011462)
Associated disease: DYSTONIA 32 (OMIM:619637)
Gene: VPS11
Phenotype: T2 hypointense basal ganglia (HP:0012753)
Associated disease: DYSTONIA 32 (OMIM:619637)
Gene: VPS11
Phenotype: Coarse facial features (HP:0000280)
Associated disease: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy; VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
Gene: VPS11
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy; VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
Gene: VPS11
Phenotype: Microcephaly (HP:0000252)
Associated disease: VPS11-related autosomal recessive hypomyelinating leukoencephalopathy; VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
Gene: VPS11
Phenotype: Microcephaly (HP:0000252)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)