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dystonia 23

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


Mondo Description Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene.
Uniprot Description A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT23 is an autosomal dominant dystonia affecting the face, neck, limbs. Some DYT23 patients manifest generalized myoclonus in addition to progressive action-induced multifocal dystonia.
Mondo Term and Equivalent IDs
MONDO:0013928:  dystonia 23
DOID:0090051: dystonia 23
Orphanet:420492: 
UMLS:C3538999: