primary coenzyme Q10 deficiency 9 (DOID:0112138)
Alliance: disease page
Synonyms: COQ10D9
Alt IDs: OMIM:619028
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.