hypotonia with lactic acidemia and hyperammonemia
This syndrome is characterized by severe hypotonia, lactic academia and congenital hyperammonaemia.
MONDO:0000732
combined oxidative phosphorylation deficiency
is_a
COXPD5
exact
MRPS22 combined oxidative phosphorylation deficiency
exact
combined oxidative phosphorylation defect type 5
exact
combined oxidative phosphorylation deficiency 5
related
combined oxidative phosphorylation deficiency caused by mutation in MRPS22
exact
combined oxidative phosphorylation deficiency type 5
exact