Hypotonia with lactic acidemia and hyperammonemia

Definition

This syndrome is characterized by severe hypotonia, lactic academia and congenital hyperammonaemia.

Also known as combined oxidative phosphorylation defect type 5, combined oxidative phosphorylation deficiency caused by mutation in MRPS22, combined oxidative phosphorylation deficiency type 5, COXPD5, MRPS22 combined oxidative phosphorylation deficiency — per MONDO

Also identified as

• DOID 0111473 per MONDO
• MESH C567126 per MONDO
• OMIM 611719 per MONDO
• Orphanet 137908 per MONDO
• SCTID 724279004 per MONDO
• UMLS C2673642 per MONDO