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dystonia 9
Summary
- Definition
- A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34.
- Super Class
- autosomal dominant disease dystonia
External Links
- Disease Ontology
- DOID:0090044
- Mondo Disease Ontology
- ORDO
- OMIM
