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episodic kinesigenic dyskinesia 1
Summary
- Synonym
-
- Paroxysmal kinesigenic choreoathetosis
- Definition
- A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11.
- Super Class
- autosomal dominant disease dystonia
External Links
- Disease Ontology
- DOID:0090053
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
