Global Variome shared LOVD

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Phenotype #0000175592 Individual ID 00235330 Associated disease ENC Phenotype details see paper; …, global developmental delay; 1y3m-onset seizures, atonic, atypical absence, absence with eyelid myoclonia, drug-resistant; moderate intellectual disability; no autism spectrum disorder, aggressive and self-harming behavior; absent ataxia; hypotonia; MRI normal; EEG 3–4 Hz generalized spike-wave discharges Diagnosis/Initial encephalopathy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 15y (15 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 2019-05-21 21:31:25 +02:00 (CEST) Date last edited 2019-05-21 21:42:38 +02:00 (CEST)

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