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dystonia 12

Summary
Definition
A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13.
Super Class
autosomal dominant disease dystonia
Disease Ontology
DOID:0090056
Mondo Disease Ontology
MeSH
ORDO
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8398 PLA2G6 phospholipase A2 group VI
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 6, 2026