mitochondrial complex IV deficiency nuclear type 20

Term ID

DOID:0070505

Synonyms

• MC4DN20

Definition

A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2. https://pubmed.ncbi.nlm.nih.gov/28247525/

References

• OMIM:619064
• UMLS_CUI:C5436726

Ontology

Human Disease   ( DOID:0070505 )