Global Variome shared LOVD

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Phenotype #0000175593 Individual ID 00235331 Associated disease ENC Phenotype details see paper; …, global developmental delay; 3y-onset seizures, atonic, bilateral tonic-clonic, drug-resistant; severe intellectual disability; autism spectrum disorder; gait ataxia only; hypotonia; chorea and myoclonus; prominent maxilla, thin upper lip; MRI normal; EEG generalized spike-wave discharges Diagnosis/Initial encephalopathy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 04y (4 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 21:46:01 +02:00 (CEST)

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