| Term Name: | nuclear type mitochondrial complex I deficiency 21 |
|---|---|
| Synonyms: | MC1DN21 |
| Definition: | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12. |
| Ontology: | Human Disease [DOID:0112088] ( DOID:0112088 ) |