combined oxidative phosphorylation deficiency 2

Term ID

DOID:0111483

Synonyms

• agenesis of corpus callosum with dysmorphism and fatal lactic acidosis
• COXPD2

Definition

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2. https://www.ncbi.nlm.nih.gov/pubmed/15505824

References

• MESH:C566468
• OMIM:610498
• ORDO:254920

Ontology

Human Disease   ( DOID:0111483 )