Term Name: | mitochondrial complex IV deficiency nuclear type 20 |
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Synonyms: | MC4DN20 |
Definition: | A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2. |
Ontology: | Human Disease [DOID:0070505] ( DOID:0070505 ) |