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mitochondrial complex IV deficiency nuclear type 20
Summary
- Synonym
-
- MC4DN20
- Definition
- A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2.
- Super Class
- COX deficiency, benign infantile mitochondrial myopathy autosomal recessive disease
External Links
- Disease Ontology
- DOID:0070505
- Mondo Disease Ontology
- UMLS
- OMIM
