Term Name:	combined oxidative phosphorylation deficiency 5
Synonyms:	COXPD5, hypotonia with lactic acidemia and hyperammonemia
Definition:	A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23.
Ontology:	Human Disease [DOID:0111473]   ( DOID:0111473 )