Global Variome shared LOVD

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Phenotype #0000328610 Individual ID 00438707 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite DEDSM Phenotype details see paper; ..., global developmental delay; 1y-seizure; EEG generalized spike-wave, diffuse slowing; MRI brain normal; hypotonia, tremor, wide-based gate, ataxia, no seizures for 1 year on VPA Inheritance Isolated (sporadic) Age/Examination 05y06m (5 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-10-21 19:20:17 +02:00 (CEST) Date last edited 2023-10-23 15:01:08 +02:00 (CEST)

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