Global Variome shared LOVD

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Phenotype #0000356220 Individual ID 00471383 Associated disease DYT Diagnosis/Initial dystonia Diagnosis/Definite - Phenotype details infancy-onset generalized dystonia, abnormal posture; developmental delay, hypotonia; intellectual disability; speech impairment; motor impairment; MRI brain normal Inheritance Familial, autosomal recessive Age/Examination - 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 2025-12-19 19:29:00 +01:00 (CET) Date last edited 2025-12-20 08:46:11 +01:00 (CET)

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