Global Variome shared LOVD

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Phenotype #0000328655 Individual ID 00438757 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite DEDSM Phenotype details see paper; ..., global developmental delay, severe intellectual disability; 6y-9y-seizures; EEG generalized poly-spike and wave; MRI brain normal, generalized tremor, facial myokimia, bradykinesia, hypomimia, rigidity, freezing and impaired postural reactions, frontal lobe impairment features, no seizures since the age of 9 years, normal glycosylation assay; current therapy VPA, clonazepam, tetrabenazine Inheritance Isolated (sporadic) Age/Examination 35y (35 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - 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 15:15:00 +02:00 (CEST) Date last edited N/A

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