mitochondrial complex IV deficiency nuclear type 15

Term ID

DOID:0070500

Synonyms

• MC4DN15

Definition

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX8A gene on chromosome 11q13.1. https://pubmed.ncbi.nlm.nih.gov/26685157/

References

• OMIM:619059
• UMLS_CUI:C5436712

Ontology

Human Disease   ( DOID:0070500 )