Global Variome shared LOVD

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Phenotype #0000356250 Individual ID 00471411 Associated disease DYT Diagnosis/Initial dystonia Diagnosis/Definite IDLDP Phenotype details see paper; ..., 29y-early onset dystonia parkinsonism, intellectual disability, epilepsy; 26y-general tonic-clonic seizures; developmental delay; prominent language impairmen (4y-speech) Inheritance Isolated (sporadic) Age/Examination 34y (34 years) Age/Diagnosis - Age/Onset - 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 2025-12-21 13:45:14 +01:00 (CET) Date last edited N/A

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