Global Variome shared LOVD

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Phenotype #0000328626 Individual ID 00438728 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite DEE58 Phenotype details see paper; ..., severe intellectual disability; autism spectrum disorder; 12h-seizure, recurrent at 5y; EEG diffuse slowing, temporal intermittent rhythmic delta frequency activity; MRI brain optic nerve hypoplasia; hypotonia, lower-limb spasticity, visual impairment, seizures controlled on oxcarbazepine for 1m Inheritance Isolated (sporadic) Age/Examination 06y03m (6 years, 3 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 12:02:59 +02:00 (CEST) Date last edited N/A

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