Term Name:	combined oxidative phosphorylation deficiency 49
Synonyms:	COXPD49
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MIEF2 on chromosome 17p11.2.
Ontology:	Human Disease [DOID:0112110]   (DOID:0112110)