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episodic kinesigenic dyskinesia 1

Disease Summary
Associated Targets (6)
Tbio

3

Tclin

2

Tchem

1


GARD Rare
Uniprot Description An autosomal dominant neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis.
Disease Ontology Description A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in heterozygous mutation in the PRRT2 gene on chromosome 16p11.
Mondo Term and Equivalent IDs
MONDO:0100352:  episodic kinesigenic dyskinesia 1
GARD:0008721: 
MESH:C537180: 
SCTID:609221008: