Global Variome shared LOVD

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Phenotype #0000230186 Individual ID 00303102 Associated disease EE Phenotype details seizures tonic-clonic (6m), absence, focal dyscognitive seizures, focal, tonic; EEG generalised polyspike wave, multi-focal discharges, diffuse slowing; development prior to seizures delayed; Severe intellectual disability, autism spectrum disorder, no regression Diagnosis/Initial epileptic encephalopathy Inheritance Isolated (sporadic) Diagnosis/Definite MRD1 Age/Examination 20y (20 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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