Rare Disease Library

Autosomal recessive ataxia due to ubiquinone deficiency

ARCA2 · Autosomal recessive ataxia due to coenzyme Q10 deficiency

SMARCA2-related blepharophimosis-intellectual disability syndrome

Autosomal recessive ataxia, Beauce type

SCAR8 · ARCA1

Autosomal recessive cerebellar ataxia

ARCA

Autosomal recessive congenital ichthyosis

ARCI