primary coenzyme Q10 deficiency 2 (DOID:0070239)
Alliance: disease page
Synonyms: coenzyme Q10 deficiency, primary, 2; COQ10D2; deafness-encephaloneuropathy-obesity-valvulopathy syndrome; hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
Alt IDs: OMIM:614651, ORDO:254898
Definition: A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1.