Global Variome shared LOVD

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Phenotype #0000175591 Individual ID 00235329 Associated disease ENC Phenotype details see paper; …, global developmental delay; 1y9m-onset seizures, atypical absence, myoclonic atonic, absence with eyelid myoclonia, drug-responsive; moderate intellectual disability; no autism spectrum disorder; truncal and gait ataxia; hypotonia; MRI parieto-occipital white matter abnormalities; EEG generalized polyspike-wave discharges Diagnosis/Initial encephalopathy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 07y (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 2019-05-21 21:31:25 +02:00 (CEST) Date last edited 2019-05-21 21:36:45 +02:00 (CEST)

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