Term Name: | nuclear type mitochondrial complex I deficiency 29 |
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Synonyms: | MC1DN29 |
Definition: | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1. |
Ontology: | Human Disease [DOID:0112084] ( DOID:0112084 ) |