OBO ID: DOID:0090053
Term Name: episodic kinesigenic dyskinesia 1 Search Ontology:
Synonyms:
  • 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:
Ontology: Human Disease   ( DOID:0090053 )
Relationships
is a type of:
OTHER episodic kinesigenic dyskinesia 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PRRT2 Episodic kinesigenic dyskinesia 1 128200
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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