Rare Disease Library

Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa

PXE-like syndrome with retinitis pigmentosa

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

PXE-like syndrome · Pseudoxanthoma elasticum-like 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

Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

Chang-Davidson-Carlson 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: Syndromic rod-cone dystrophy

OBSOLETE: Syndromic retinitis pigmentosa

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

Retinitis pigmentosa

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

X-linked intellectual disability-retinitis pigmentosa syndrome

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