Global Variome shared LOVD

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Phenotype #0000333052 Individual ID 00443778 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite DEE112 Inheritance Unknown Phenotype details see paper; ...; epilepsy (unknown type); 6m-seizure (unknown type); generalised tonic-clonic seizure, absence seizure, focal aware motor seizure; no regression; learning difficulties at school; sentences, ambulatory, and self-feeds; MRI brain 55y-normal Age/Examination 61y (61 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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