Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000356158 Individual ID 00471321 Associated disease DYT Diagnosis/Initial dystonia Diagnosis/Definite - Phenotype details combined dystonia, coexisting non-movement disorder-related neurological symptoms; onset adolescence (13-20y); generalized dystonia; no dystonic cerebral palsy; myoclonus, chorea, ataxia; 6w-episodes of transient cyanosis; hypotonia; developmental delay; intellectual disability; speech impairment; motor impairment; autism spectrum disorder, autoaggression, stereotypies; MRI brain cerebellar atrophy Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset 13y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-12-19 18:53:19 +01:00 (CET) Date last edited 2025-12-19 19:03:19 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.