Term Name: | nuclear type mitochondrial complex I deficiency 10 |
---|---|
Synonyms: | MC1DN10 |
Definition: | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF2 gene on chromosome 5q12.1. |
Ontology: | Human Disease [DOID:0112075] ( DOID:0112075 ) |