Term Name: | nuclear type mitochondrial complex I deficiency 23 |
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Synonyms: | MC1DN23 |
Definition: | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA12 gene on chromosome 12q22. |
Ontology: | Human Disease [DOID:0112087] ( DOID:0112087 ) |