Global Variome shared LOVD

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Phenotype #0000328631 Individual ID 00438733 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite DEE92 Phenotype details see paper; ..., global developmental delay, moderate intellectual disability; 6y-seizure; MRI brain normal; acquired microcephaly, no seizures (responded to valproic acid, off medication) Inheritance Isolated (sporadic) Age/Examination 10y (10 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 2023-10-23 12:40:00 +02:00 (CEST) Date last edited N/A

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