Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive ataxia due to ubiquinone deficiency
Definition
This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy.
Also known as ARCA2, autosomal recessive ataxia due to coenzyme Q10 deficiency, autosomal recessive cerebellar ataxia type 2, autosomal recessive spinocerebellar ataxia type 9, coenzyme Q10 deficiency, primary, type 4, SCAR9 — per MONDO