Global Variome shared LOVD

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Phenotype #0000333059 Individual ID 00443785 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite DEE112 Inheritance Isolated (sporadic) Phenotype details see paper; ...; epilepsy (unknown type); 9m-tonic-clonic seizure; 5y-seizure offset; 18m-language dealy, no regression; no intellectual disability, sentences, ambulatory, self-feeds; MRI brain 15m/7y-normal Age/Examination 7y (7 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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