Human genes for combined oxidative phosphorylation deficiency 7
Combined oxidative phosphorylation deficiency 7 [DOID:0111487]
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31.
Synonyms: combined oxidative phosphorylation deficiency 7, DOID:0111487, COXPD7, severe C12ORF65-related combined oxidative phosphorylation defect, severe C12ORF65-related COXPD ...