Term Name: | nuclear type mitochondrial complex I deficiency 18 |
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Synonyms: | MC1DN18 |
Definition: | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31. |
Ontology: | Human Disease [DOID:0112070] ( DOID:0112070 ) |