Global Variome shared LOVD

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Phenotype #0000333051 Individual ID 00443777 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite DEE112 Inheritance Isolated (sporadic) Phenotype details see paper; ...; developmental and epileptic encephalopathy, developmental and/or epileptic encephalopathy with spike-wave activation in sleep; 5m-focal impaired awareness seizure; focal to bilateral tonic-clonic seizure, focal motor seizure, hemiclonic; 3y-seizure offset; 2y6m-language delay, regression; mild-moderate intellectual disability (sentences and ambulatory); ADHD; MRI brain 6m/4y-normal Age/Examination 5y6m (5 years, 6 months) Age/Diagnosis - Age/Onset - 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 2023-12-02 16:06:35 +01:00 (CET) Date last edited N/A

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