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