Global Variome shared LOVD

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Phenotype #0000333050 Individual ID 00443776 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite DEE112 Inheritance Isolated (sporadic) Phenotype details see paper; ...; developmental and epileptic encephalopathy; 3m-focal motor seizure, hemiclonic; focal to bilateral tonic-clonic seizure, status epilepticus, tonic-clonic seizure; 18m-global developmental delay, no regression; severe intellectual disability (single words, ambulatory, and assisted feeds; ADHD; MRI brain 3m-normal Age/Examination 4y (4 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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