has material basis in germline mutation in MRPS22 combined oxidative phosphorylation deficiency hypotonia with lactic acidemia and hyperammonemia https://www.malacards.org/card/combined_oxidative_phosphorylation_deficiency_5 SCTID:724279004 MONDO:0012718 combined oxidative phosphorylation defect type 5 MESH:C567126 UMLS:C2673642 combined oxidative phosphorylation deficiency type 5 combined oxidative phosphorylation deficiency caused by mutation in MRPS22 Orphanet:137908 DOID:0111473 OMIM:611719 This syndrome is characterized by severe hypotonia, lactic academia and congenital hyperammonaemia. COXPD5 combined oxidative phosphorylation deficiency 5 MRPS22 combined oxidative phosphorylation deficiency MEDGEN:435972 GARD:0016950