Global Variome shared LOVD

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Phenotype #0000328641 Individual ID 00438743 Associated disease DEE Diagnosis/Initial learning disabilities Diagnosis/Definite MRD56 Phenotype details see paper; ..., bordeline intellectual disability, learning disabilities; 14y-1 seizure; EEG normal; MRI brain normal; progressive paraparesis with lower-limb spasticity, ataxia, myoclonus, one seizure without recurrence under LEV, no seizures for 4 years off meds Inheritance Isolated (sporadic) Age/Examination 20y05m (20 years, 5 months) 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 13:58:26 +02:00 (CEST) Date last edited N/A

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