Global Variome shared LOVD

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Phenotype #0000325836 Individual ID 00435652 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details see paper; ..., 10m-focal seizures; generalized tonic-clonic seizures occasional during fever; EEG 2y slow background, focal discharges; MRI brain 1 year 7m thin corpus callosum, widespread white matter abnormality, especially periventricular, asymmetric dysmorphic lateral ventricles, mild cerebellar atrophy; global profound developmental delay, spastic quadriparesis, axial hypotonia, upper limb dystonia, visual impairment, dysphagia (percutaneous endoscopic gastrostomy 3y) Inheritance Isolated (sporadic) Age/Examination 5y (5 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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