Global Variome shared LOVD

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Phenotype #0000356159 Individual ID 00471322 Associated disease DYT Diagnosis/Initial dystonia Diagnosis/Definite - Phenotype details combined dystonia, coexisting non-movement disorder-related neurological symptoms; onset childhood (3-12y); focal dystonia; no dystonic cerebral palsy; myoclonus, ataxia; 4w-episodes of transient cyanosis; hypotonia; developmental delay; intellectual disability; speech impairment; motor impairment; autism spectrum disorder, autoaggression, stereotypies; MRI brain normal Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset 03y 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 19:04:55 +01:00 (CET)

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