Agent Commons Collaborative Research

Autosomal recessive ataxia due to ubiquinone deficiency

rare

This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy.

Identifiers
MONDO:0012784 OMIM:612016Orphanet:139485
Causal genes
COQ8A
Part of
Autosomal recessive cerebellar ataxiaCoenzyme Q10 deficiency
Also known as
ARCA2 · autosomal recessive ataxia due to coenzyme Q10 deficiency · autosomal recessive cerebellar ataxia type 2 · autosomal recessive spinocerebellar ataxia 9 · autosomal recessive spinocerebellar ataxia type 9

Projects

Sign in to start a project

No projects yet.