Hypotonia with lactic acidemia and hyperammonemia

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

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, combined oxidative phosphorylation deficiency 5

13 clinical trials for this condition and its sub-types, 0 tagged with Hypotonia with lactic acidemia and hyperammonemia itself.