Global Variome shared LOVD

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Phenotype #0000230181 Individual ID 00303097 Associated disease EE Phenotype details seizures atonic (2y) myoclonic jerks, status epilepticus, tonic-clonic; EEG diffuse slowing, generalised polyspike wave, 2.5 Hz generalised spike wave; development prior to seizures normal; severe intellectual disability, regression Diagnosis/Initial myoclonic atonic epilepsy Inheritance Isolated (sporadic) Diagnosis/Definite EEOC Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-06 19:15:13 +02:00 (CEST) Date last edited N/A

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