Global Variome shared LOVD

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Phenotype #0000351151 Individual ID 00465608 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRXSHG Inheritance Familial, X-linked recessive Phenotype details see paper; ..., intellectual disability; 2y-seizures; no sleep disorder; MRI brain normal; EEG sleep continuous spike-and-slow-waves; speech multiple words, loss most of speech with seizure onset; attention problems; hyperactivity; psychomotor delay; 21m-walk Age/Examination 6y (6 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 2025-05-27 17:46:55 +02:00 (CEST) Date last edited N/A

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