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nuclear type mitochondrial complex I deficiency 15
Summary
- Synonym
-
- MC1DN15
- Definition
- A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF4 gene on chromosome 6q16.1.
- Super Class
- autosomal recessive disease nuclear type mitochondrial complex I deficiency
External Links
- Disease Ontology
- DOID:0112077
- Mondo Disease Ontology
- OMIM
