Global Variome shared LOVD

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Phenotype #0000325834 Individual ID 00435650 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details see paper; ..., 7d-myoclonic jerks; 14m-intractable focal seizures; EEG 14m: normal background, generalized and focal discharges; MRI brain 14m mild prominence of ventricular system and extra-axial CSF spaces; global developmental delay, dysphagia Inheritance Isolated (sporadic) Age/Examination 1y11m (1 year, 11 months) 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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