Term Name: | nuclear type mitochondrial complex I deficiency 30 |
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Synonyms: | MC1DN30 |
Definition: | A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFB11 gene on chromosome Xp11.3. |
Ontology: | Human Disease [DOID:0112098] ( DOID:0112098 ) |