| Term Name: | nuclear type mitochondrial complex I deficiency 1 |
|---|---|
| Synonyms: | MC1DN1 |
| Definition: | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2. |
| Ontology: | Human Disease [DOID:0112074] ( DOID:0112074 ) |