| Metadata | |
|---|---|
| ID | DOID:0070241 |
| Name | primary coenzyme Q10 deficiency 4 |
| Definition | A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13. https://www.ncbi.nlm.nih.gov/pubmed/18319072 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
coenzyme Q10 deficiency, primary, 4 [EXACT] COQ10D4 [EXACT] SCAR9 [EXACT] spinocerebellar ataxia, autosomal recessive 9 [EXACT] |
| Parent Relationships |