Term Name: | mitochondrial complex III deficiency nuclear type 2 |
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Synonyms: | MC3DN2 |
Definition: | A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern. |
Ontology: | Human Disease [DOID:0060351] ( DOID:0060351 ) |