" /> Torsion Dystonia 6 - CISMeF





Preferred Label : Torsion Dystonia 6;

NCIt synonyms : DYT6;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the THAP1 gene, encoding THAP domain-containing protein 1. It is characterized by dystonic craniofacial movements, dysarthria, and dysphagia. Limb involvement is common.;

Details


You can consult :


Nous contacter.
03/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.