Term Name: | nuclear type mitochondrial complex I deficiency 5 |
---|---|
Synonyms: | MC1DN5 |
Definition: | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NDUFS1 on chromosome 2q33.3. |
Ontology: | Human Disease [DOID:0112068] (DOID:0112068) |