Global Variome shared LOVD

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Phenotype #0000304948 Individual ID 00412962 Associated disease DEE Diagnosis/Initial Ohtahara syndrome Diagnosis/Definite DEE17 Phenotype details 4d-tonic seizure; 4d-suppression-burst pattern; 5y-tonic seizure; EEG-1y4m-multifocal sharp waves, 5y6m-suppression-burst pattern; no involuntary movement; seizure control intractable (2-3 times per day); no head control; not sitting; no speech; MRI 1m-normal, 5y6m-cerebral atrophy Inheritance Isolated (sporadic) Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-07-07 11:30:20 +02:00 (CEST) Date last edited N/A

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