Term Name: | nuclear type mitochondrial complex I deficiency 12 |
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Synonyms: | MC1DN12 |
Definition: | A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFA1 gene on chromosome Xq24. |
Ontology: | Human Disease [DOID:0112099] ( DOID:0112099 ) |