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dystonia 30
Summary
- Synonym
-
- DYT30
- Definition
- A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation and have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations with has_material_basis_in heterozygous mutation in the VPS16 gene on chromosome 20p13.
- Super Class
- autosomal dominant disease dystonia
External Links
- Disease Ontology
- DOID:0060937
- Mondo Disease Ontology
- OMIM
