Global Variome shared LOVD

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Phenotype #0000175594 Individual ID 00235332 Associated disease ENC Phenotype details see paper; …, global developmental delay; 4y-onset seizures, focal impaired-awareness seizures, partially drug-responsive; severe intellectual disability; autism spectrum disorder; truncal and gait ataxia; hypotonia; tremor; long, thin hands and feet; MRI normal; EEG multifocal epileptiform activity Diagnosis/Initial encephalopathy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 08y (8 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 21:49:00 +02:00 (CEST)

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