Global Variome shared LOVD

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Phenotype #0000318782 Individual ID 00427808 Associated disease epilepsy Phenotype details intellectual disability; absence seizure, generalized tonic-clonic, frequency 20/d; EEG generalized spike wave, focal spike wave; MRI brain normal; remitted to antiepileptic drugs Diagnosis/Initial unclassified epileptic encephalopathy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset 2y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-12-13 13:20:24 +01:00 (CET) Date last edited N/A

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