Global Variome shared LOVD

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Phenotype #0000325837 Individual ID 00435653 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details see paper; ..., 3y-focal seizures; focal seizures with impaired awareness, generalized tonic-clonic seizures (yearly; EEG 15y slow background, focal discharges, focal seizures recorded; MRI brain 15y, 21y, 24y, 27y, 28y thin corpus callosum, widespread white matter abnormality, especially periventricular/posterior, progressive cerebellar atrophy, and trabecular bone thickening; global moderate developmental delay, cerebellar ataxia, tremor, dysarthria, limited mobility, bipolar disorder; mild hyperbilirubinemia Inheritance Isolated (sporadic) Age/Examination 30y (30 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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