Term Name: | nuclear type mitochondrial complex I deficiency 22 |
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Synonyms: | MC1DN22 |
Definition: | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA10 gene on chromosome 2q37.3. |
Ontology: | Human Disease [DOID:0112069] ( DOID:0112069 ) |