Global Variome shared LOVD

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Phenotype #0000328506 Individual ID 00438603 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite MRD56 Phenotype details see paper; ..., global developmental delay, moderate intellectual disability; 5m-seizure; EEG generalized spike-wave, poly-spike and wave; MRI brain delayed myelination, 20y-normal; neonatal hypotonia, scoliosis, intractable seizures until puberty, no seizures under LEV and LTG Inheritance Isolated (sporadic) Age/Examination 23y (23 years) 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 14:32:42 +02:00 (CEST)

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