Term Name: | nuclear type mitochondrial complex I deficiency 17 |
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Synonyms: | MC1DN17 |
Definition: | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF6 gene on chromosome 8q22.1. |
Ontology: | Human Disease [DOID:0112078] ( DOID:0112078 ) |