Global Variome shared LOVD

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Phenotype #0000318790 Individual ID 00427816 Associated disease EE Phenotype details birth at term, Apgar 4; infantile spasms, nonresponsive to ACTH, controlled with vigabatrin, 3y6m-complex partial seizures, 14y-recurrence of clusters of flexor spasms, now refractory; EEG 6m-hypsarrhythmia (resolved on vigabatrin), subsequently bihemispheric slowing, multifocal sharp waves; epileptic encephalopathy; mild motor delay, moderate to severe speech-language delay; 1st-grade level; movements slow with poor coordination; emotional lability, compulsive behaviors Diagnosis/Initial epileptic encephalopathy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset 00y06m 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 2022-12-13 13:34:17 +01:00 (CET) Date last edited 2022-12-13 14:10:15 +01:00 (CET)

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