Global Variome shared LOVD

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Phenotype #0000338713 Individual ID 00449538 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details plasma glutamine normal; cerebrospinal fluid glutamine normal; cerebrospinal fluid neurotransmitters normal; 22m-epilepsy, myoclonic, generalized tonic-clonic seizure, absence; epilepsy type generalized; developmental and epileptic encephalopathy; EEG frequent myoclonic seizures, generalized spike and wave; seizures 50-100 per day; treatment response refractory; global developmental delay Inheritance Isolated (sporadic) Age/Examination - 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 2024-04-19 18:53:48 +02:00 (CEST) Date last edited N/A

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