mitochondrial complex IV deficiency nuclear type 6

Term ID

DOID:0080358

Synonyms

• fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2
• MC4DN6

Definition

A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24. https://pubmed.ncbi.nlm.nih.gov/10545952/

References

• OMIM:615119
• UMLS_CUI:C3554534

Ontology

Human Disease   ( DOID:0080358 )