Global Variome shared LOVD

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Phenotype #0000328656 Individual ID 00438758 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite DEDSM Inheritance Isolated (sporadic) Phenotype details see paper; ..., global developmental delay, moderate/severe intellectual disability; 7y-seizures; EEG normal; MRI brain normal; ataxia, myoclonus, tremor, dystonia, short stature, no treatment initiated yet for cortical myoclonus, normal glycosylation assay Age/Examination 07y01m (7 years, 1 month) 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 2023-10-23 15:18:28 +02:00 (CEST) Date last edited N/A

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