| Metadata | |
|---|---|
| ID | DOID:0060351 |
| Name | mitochondrial complex III deficiency nuclear type 2 |
| 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. http://www.omim.org/entry/615157, https://www.ncbi.nlm.nih.gov/pubmed/21278747 |
| Xrefs | |
| Subsets |
DO_FlyBase_slim |
| Synonyms |
MC3DN2 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |