Global Variome shared LOVD

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Phenotype #0000333057 Individual ID 00443783 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite DEE112 Inheritance Isolated (sporadic) Phenotype details see paper; ...; combined focal and generalized epilepsy; 7m=generalised tonic-clonic seizure; focal to bilateral tonic-clonic seizure; 14m-seizure offset; 14m-language delay, no regression; language delay (single words), ambulatory, self-feeds; MRI brain 14m-normal Age/Examination 19m 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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