mitochondrial complex IV deficiency nuclear type 22

Term ID

DOID:0070507

Synonyms

• MC4DN22

Definition

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX16 gene on chromosome 14q24.2. https://pubmed.ncbi.nlm.nih.gov/33169484/

References

• OMIM:619355
• UMLS_CUI:C5543491

Ontology

Human Disease   ( DOID:0070507 )