Global Variome shared LOVD

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

Phenotype #0000357595 Individual ID 00472800 Associated disease ? Diagnosis/Initial dystonia Diagnosis/Definite - Phenotype details slow speech, inactive during the first years of life, dystonia Inheritance Familial, autosomal recessive Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-02-28 14:23:50 +01:00 (CET) Date last edited N/A

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