Global Variome shared LOVD

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Phenotype #0000333054 Individual ID 00443780 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite DEE112 Inheritance Isolated (sporadic) Phenotype details see paper; ...; focal developmental and epileptic encephalopathy; 7m-focal impaired awareness seizure; focal to bilateral tonic-clonic seizure, focal motor seizure, hemiclonic; 3y6m-language delay. behavior delay, no regression; mild intellectual disability (sentences, ambulatory, and self-feeds); behavioral difficulties; MRI brain 1y/3y/5y-normal Age/Examination 10y (10 years) 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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