Global Variome shared LOVD

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Phenotype #0000325825 Individual ID 00435641 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details see paper; ..., 2m-focal motor seizures with asymmetric posturing; focal seizures with impaired awareness and asymmetric posturing, focal to bilateral tonic-clonic (weekly); EEG 15y slow background, focal epileptiform discharges; MRI brain 4y thin corpus callosum, posterior predominant multifocal white matter abnormalities, dysmorphic asymmetric lateral ventricles, enlarged cortical sulci; global profound developmental delay, spastic asymmetric quadriparesis, severe cortical visual impairment Inheritance Isolated (sporadic) Age/Examination 15y (15 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 2023-08-07 11:56:16 +02:00 (CEST) Date last edited N/A

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