combined oxidative phosphorylation deficiency 5

Term ID

DOID:0111473

Synonyms

• 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. (2)

References

• MESH:C567126
• OMIM:611719
• ORDO:137908

Ontology

Human Disease   ( DOID:0111473 )