Global Variome shared LOVD

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Phenotype #0000328173 Individual ID 00438269 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper, ..., epilepsy, irritability; choreodystonia, stereotypies, no dyskinetic crisis; delayed motor development, no head control; no speech; no feeding difficulties Inheritance Isolated (sporadic) Age/Examination 11m 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 2023-10-20 14:54:37 +02:00 (CEST) Date last edited N/A

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