This syndrome is characterized by severe hypotonia, lactic academia and congenital hyperammonaemia. The disease is MONDO_0012718 (hypotonia with lactic acidemia and hyperammonemia). Also known as: COXPD5, MRPS22 combined oxidative phosphorylation deficiency, combined oxidative phosphorylation defect type 5, combined oxidative phosphorylation deficiency caused by mutation in MRPS22, combined oxidative phosphorylation deficiency type 5.