Human genes for combined oxidative phosphorylation deficiency 4
Combined oxidative phosphorylation deficiency 4 [DOID:0111494]
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TUFM on chromosome 16p11.2.
Synonyms: combined oxidative phosphorylation deficiency 4, DOID:0111494, COXPD4