Global Variome shared LOVD

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Phenotype #0000325826 Individual ID 00435642 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details see paper, ..., 12y6m-deceased (pneumonia); 4m-focal seizures; focal seizures with impaired awareness; 9 months on: spasms and focal to bilateral tonic-clonic (daily); 14m-single episode of status epilepticus; EEG 8m–10y slow background, bilateral independent or multifocal discharges, epileptic spasms recorded; MRI brain 5m, 7y thin corpus callosum, multifocal white matter abnormalities, dysmorphic enlarged lateral ventricles, mild cortical and cerebellar atrophy, progressive trabecular bone thickening; global profound developmental delay, wheelchair bound, cortical visual impairment, by 10y knee fixed flexion contractures, dysphagia (percutaneous endoscopic gastrostomy 5y); severe macrocytic anemia transfusion dependent Inheritance Isolated (sporadic) Age/Examination 12y (12 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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