Global Variome shared LOVD

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Phenotype #0000328653 Individual ID 00438755 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite DEDSM Phenotype details see paper; ..., global developmental delay, severe intellectual disability; 18m-seizures; EEG generalized spike-wave, photosensitive; MRI brain normal; hypotonia, short stature, intractable seizures Inheritance Isolated (sporadic) Age/Examination 05y01m (5 years, 1 month) 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 15:04:32 +02:00 (CEST) Date last edited N/A

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