| Term Name: | mitochondrial complex III deficiency nuclear type 2 |
|---|---|
| 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 ) |