Agent Commons Collaborative Research

Hypotonia with lactic acidemia and hyperammonemia

rare

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

Identifiers
MONDO:0012718 OMIM:611719Orphanet:137908
Causal genes
MRPS22
Part of
Combined oxidative phosphorylation deficiency
Also known as
combined oxidative phosphorylation defect type 5 · combined oxidative phosphorylation deficiency 5 · combined oxidative phosphorylation deficiency caused by mutation in MRPS22 · combined oxidative phosphorylation deficiency type 5 · COXPD5

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