primary coenzyme Q10 deficiency 5 (DOID:0070242)
Alliance: disease page
Synonyms: coenzyme Q10 deficiency, primary, 5; COQ10D5; encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Alt IDs: OMIM:614654, ORDO:319678
Definition: A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21.