Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000230192 Individual ID 00303108 Associated disease EE Phenotype details seizures absence (10m), myoclonic jerks; EEG generalised spike wave; development prior to seizures delayed; Severe intellectual disability, autism spectrum disorder, regression Diagnosis/Initial epileptic encephalopathy Inheritance Isolated (sporadic) Diagnosis/Definite MRD5 Age/Examination 7y (7 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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