Global Variome shared LOVD

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Phenotype #0000331315 Individual ID 00441932 Associated disease ? Diagnosis/Initial myoclonus Diagnosis/Definite - Phenotype details see paper; ..., ataxia; dystonia; myoclonus; action tremor; spasticity; intellectual disability; social phobia, slowed saccades, spasticity Inheritance Familial, autosomal recessive Age/Examination 24y (24 years) Age/Diagnosis - Age/Onset 6y 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 2023-11-15 14:04:23 +01:00 (CET) Date last edited N/A

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