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nuclear type mitochondrial complex I deficiency 5
Summary
- Synonym
-
- MC1DN5
- Definition
- A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3.
- Super Class
- autosomal recessive disease nuclear type mitochondrial complex I deficiency
External Links
- Disease Ontology
- DOID:0112068
- Mondo Disease Ontology
- OMIM
Related Genes
