Global Variome shared LOVD

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Phenotype #0000331321 Individual ID 00441938 Associated disease ? Diagnosis/Initial ballistic movements and developmental regression Diagnosis/Definite - Phenotype details see paper (Skorvanek); ..., dystonia; chorea; intellectual disability Inheritance Familial, autosomal recessive Age/Examination 31y (31 years) Age/Diagnosis - Age/Onset 15m 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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