Term Name: | mitochondrial complex IV deficiency nuclear type 6 |
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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. |
Ontology: | Human Disease [DOID:0080358] ( DOID:0080358 ) |