Global Variome shared LOVD

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Phenotype #0000328638 Individual ID 00438740 Associated disease DEE Diagnosis/Initial early myoclonic encephalopathy Diagnosis/Definite DEE92 Phenotype details see paper; ..., 17d-deceased; severe global developmental delay; 7d-seizure; EEG burst suppression; MRI brain normal; hypotonia, jitteriness, back arching, apneas, intractable seizures Inheritance Isolated (sporadic) Age/Examination 00y00m17d (17 days) 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 2023-10-23 13:39:27 +02:00 (CEST) Date last edited N/A

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