Global Variome shared LOVD

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Phenotype #0000328543 Individual ID 00438640 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details see paper; ..., severe global developmental delay, severe intellectual disability; 11m-seizures; EEG modified hypsarrhythmia; MRI brain increased sub-arachnoid spaces; axial and limb hypotonia, hyporeflexia, scoliosis, hypersalivation Inheritance Isolated (sporadic) Age/Examination 14y (14 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 15:54:10 +02:00 (CEST)

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