Term Name: | mitochondrial complex IV deficiency nuclear type 13 |
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Synonyms: | fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4, MC4DN13 |
Definition: | A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42. |
Ontology: | Human Disease [DOID:0080360] ( DOID:0080360 ) |