Term Name:	combined oxidative phosphorylation deficiency 44
Synonyms:	COXPD44
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 2q33.
Ontology:	Human Disease [DOID:0070424]   ( DOID:0070424 )