Global Variome shared LOVD

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Phenotype #0000325824 Individual ID 00435640 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details see paper; ..., 1d-focal seizures; bilateral independent focal motor seizures with impaired awareness, focal to bilateral tonic-clonic (weekly); EEG 7−10y slow background, multifocal discharges, focal seizures recorded; MRI brain 6y, 10y thin corpus callosum, multifocal white matter abnormalities, ventricular asymmetry, progressive cerebellar atrophy; global profound developmental delay, ataxic gait, lower limb hypertonia, nystagmus; mild abnormalities of red blood cells, mean corpuscular hemoglobin, mean corpuscular volume Inheritance Isolated (sporadic) Age/Examination 10y (10 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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