combined oxidative phosphorylation deficiency 7 (DOID:0111487)
Alliance: disease page
Synonyms: COXPD7; severe C12ORF65-related combined oxidative phosphorylation defect; severe C12ORF65-related COXPD
Alt IDs: OMIM:613559, ORDO:254930
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31.