Global Variome shared LOVD

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Phenotype #0000310958 Individual ID 00419677 Associated disease epilepsy Phenotype details 6m-onset seizures, generalized tonic-clonic seizures; myoclonic seizures, atypical absences; bimonthly generalized tonic-clonic seizures on polytherapy; 4y-EEG frequent generalized spike wave discharges in diffusely slow background; moderate ataxia, occasional myoclonus at rest; severe intellectual disability, no speech, requires help with all aspects of daily activities; MRI brain normal; facial dysmorphism, broad forehead, bulbous nasal tip, deep set eyes, synophris, full lips Diagnosis/Initial adult epileptic encephalopathy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 36y (36 years) Age/Diagnosis - Age/Onset 00y06m Phenotype/Onset seizures Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-10-21 10:04:47 +02:00 (CEST) Date last edited 2022-10-21 10:24:50 +02:00 (CEST)

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