combined oxidative phosphorylation deficiency 5 (DOID:0111473)
Alliance: disease page
Synonyms: COXPD5; hypotonia with lactic acidemia and hyperammonemia
Alt IDs: OMIM:611719, MESH:C567126, ORDO:137908
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.