Term Name: | nuclear type mitochondrial complex I deficiency 21 |
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Synonyms: | MC1DN21 |
Definition: | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12. |
Ontology: | Human Disease [DOID:0112088] ( DOID:0112088 ) |