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combined oxidative phosphorylation deficiency 5
Summary
- Synonym
-
- COXPD5
- hypotonia with lactic acidemia and hyperammonemia
- Definition
- A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23.
- Super Class
- autosomal recessive disease combined oxidative phosphorylation deficiency
External Links
- Disease Ontology
- DOID:0111473
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
