Rare Disease Library

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Sengers syndrome

Hardikar syndrome

Cholestasis-pigmentary retinopathy-cleft palate syndrome · HDKR

Mirhosseini-Holmes-Walton syndrome

Pigmentary retinopathy-intellectual disability syndrome

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Booth-Haworth-Dilling syndrome · Mitochondrial encephalomyopathy-aminoacidopathy syndrome

Saldino-Mainzer syndrome

Conorenal syndrome · Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome

Spinocerebellar ataxia type 7

Ataxia with pigmentary retinopathy · Cerebellar syndrome-pigmentary maculopathy syndrome