Global Variome shared LOVD

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Phenotype #0000325832 Individual ID 00435648 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details see paper; ..., 14d-focal seizures; bilateral independent focal seizures, epileptic spasms (daily); EEG 2–9m slow background, hypsarrhythmia, multifocal discharges, focal seizures and epileptic spasms recorded; MRI brain 2m thin corpus callosum, enlarged extracerebral spaces, abnormal myelination more pronounced posteriorly, Rathke cleft cyst; global profound developmental delay, quadriparesis, generalized hypotonia, cortical blindness with roving eye movements, dysphagia; mild macrocytic anemia Inheritance Isolated (sporadic) Age/Examination 3y (3 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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