mitochondrial complex IV deficiency nuclear type 18

Term ID

DOID:0070503

Synonyms

• MC4DN18

Definition

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2. https://pubmed.ncbi.nlm.nih.gov/31155743/

References

• OMIM:619062
• UMLS_CUI:C5436720

Ontology

Human Disease   ( DOID:0070503 )