Rare Disease Library

Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome · PHARC syndrome

Autosomal dominant optic atrophy plus syndrome

ADOA+ · DOA+

Cataract-ataxia-deafness syndrome

Cataract-ataxia-hearing loss syndrome

Congenital bile acid synthesis defect type 4

2-methylacyl-CoA racemase deficiency · AMACR deficiency

Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome

Cutis verticis gyrata-retinitis pigmentosa-neurosensory deafness syndrome · Cutis verticis gyrata-retinitis pigmentosa-neurosensory hearing loss syndrome

Digital extensor muscle aplasia-polyneuropathy

Hamanishi-Ueba-Tsuji syndrome · Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy

Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

Chang-Davidson-Carlson syndrome

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

Furukawa-Takagi-Nakao syndrome

NARP syndrome

Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome · Neuropathy-ataxia-retinitis pigmentosa syndrome

OBSOLETE: Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome

OBSOLETE: Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome · OBSOLETE: Osteochondrodysplatic dwarfism-hearing loss-retinitis pigmentosa syndrome

OBSOLETE: Syndromic rod-cone dystrophy

OBSOLETE: Syndromic retinitis pigmentosa

Posterior column ataxia-retinitis pigmentosa syndrome

Autosomal recessive posterior column ataxia and retinitis pigmentosa · PCARP

Primary ciliary dyskinesia-retinitis pigmentosa syndrome

Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa

PXE-like syndrome with retinitis pigmentosa

Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

Edwards-Sethi syndrome · Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome

Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

Retinal dystrophy-juvenile cataract-short stature syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH