Term Name: | mitochondrial complex IV deficiency nuclear type 14 |
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Synonyms: | MC4DN14 |
Definition: | A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2. |
Ontology: | Human Disease [DOID:0070499] ( DOID:0070499 ) |