Global Variome shared LOVD

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Phenotype #0000304949 Individual ID 00412963 Associated disease DEE Diagnosis/Initial Ohtahara syndrome Diagnosis/Definite DEE17 Phenotype details 29d-series of tonic seizures (tonic upgaze, head nodding, extension of all extremities); 29d-suppression-burst pattern; 9m-series of tonic seizures; EEG 3m-hypsarrhythmia, 1y7m-diffuse spike-and-slow-wave complex, 3y9m-sharp waves at frontal lobe; no involuntary movement; seizure control intractable (0-2 times per day); head control; not sitting; no speech; MRI 10m-delayed myelination, thin corpus callosum Inheritance Isolated (sporadic) Age/Examination 4y1m (4 years, 1 month) 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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