# autosomal recessive ataxia due to ubiquinone deficiency

> This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy

**Wikidata**: [Q55345821](https://www.wikidata.org/wiki/Q55345821)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-ataxia-due-to-ubiquinone-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency
3. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000163050/MONDO_0012784)