Human genes for combined oxidative phosphorylation deficiency 22
Combined oxidative phosphorylation deficiency 22 [DOID:0111498]
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in ATP5A1 on chromosome 18q21.1.
Synonyms: combined oxidative phosphorylation deficiency 22, DOID:0111498, COXPD22