| Term Name: | primary coenzyme Q10 deficiency 9 |
|---|---|
| Synonyms: | COQ10D9 |
| Definition: | A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31. |
| Ontology: | Human Disease [DOID:0112138] ( DOID:0112138 ) |