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mitochondrial complex V (ATP synthase) deficiency nuclear type 7
Summary
- Synonym
-
- MC5DN7
- Definition
- A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11.
- Super Class
- autosomal recessive disease mitochondrial complex V (ATP synthase) deficiency
External Links
- Disease Ontology
- DOID:0070464
- Mondo Disease Ontology
- OMIM
