dystonia 25

Summary
Definition
A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11.
Super Class
autosomal dominant disease multifocal dystonia
Disease Ontology
DOID:0090055
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
14680 Gnal guanine nucleotide binding protein, alpha stimulating, olfactory type

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: December 9, 2024