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Human Disease
mitochondrial complex III deficiency nuclear type 2
- Term ID
- DOID:0060351
- Synonyms
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- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0060351 )
- is a type of
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