Term Name: | mitochondrial complex IV deficiency nuclear type 9 |
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Synonyms: | fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3, MC4DN9 |
Definition: | A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11. |
Ontology: | Human Disease [DOID:0080359] ( DOID:0080359 ) |