Global Variome shared LOVD

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Phenotype #0000333053 Individual ID 00443779 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite DEE112 Inheritance Isolated (sporadic) Phenotype details see paper; ...; focal developmental and epileptic encephalopathy; 6m-febrile seizure; focal motor seizure, focal to bilateral tonic-clonic seizure; 16m-language delay, no regression; moderate intellectual disability (2-word sentences, ambulatory, and self-feeds); autistic trait; Age/Examination 5y (5 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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