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Human Disease
episodic kinesigenic dyskinesia 1
- Term ID
- DOID:0090053
- Synonyms
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- 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. (2)
- References
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- GARD:8721
- ICD10CM:G24.8
- MIM:128200
- ORDO:98809
- Ontology
- Human Disease ( DOID:0090053 )
- is a type of
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Genes Involved
Zebrafish Models