Global Variome shared LOVD

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Phenotype #0000317220 Individual ID 00426056 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details 32m-deceased; 3m-onset seizures, myoclonic seizures, focal seizures, refractory; profound developmental delay, GMFCS V, CFCS V; dystonic movement disorder, profound hypotonia, cortical visual impairment; EEG asynchrony, electroclinical myoclonic seizures; MRI brain diffuse cerebral atrophy Inheritance Isolated (sporadic) Age/Examination 2y8m (2 years, 8 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 2022-11-27 10:28:01 +01:00 (CET) Date last edited N/A

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