Rare Disease Library

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Brachydactyly-short stature-retinitis pigmentosa 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

Deafness-infertility syndrome

Hearing loss-infertility syndrome · DIS

Deafness-oligodontia syndrome

Hearing loss-oligodontia syndrome

Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

Chang-Davidson-Carlson syndrome

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome

Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen 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

Palmoplantar keratoderma-deafness syndrome

PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

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

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

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

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

RHYNS syndrome

Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome

Spastic paraparesis-deafness syndrome

Wells-Jankovic syndrome · Spastic paraparesis-hearing loss syndrome

Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome

Tietz syndrome

Hypopigmentation-deafness syndrome · Hypopigmentation-hearing loss syndrome

X-linked intellectual disability-retinitis pigmentosa syndrome

Aldred syndrome · Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion