Global Variome shared LOVD

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Phenotype #0000317216 Individual ID 00426052 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details 6m-onset seizures, epileptic spasms, focal epilepsy, refractory initially, now seizure free; severe developmental delay, GMFCS V, CFCS IV; profound hypotonia, cortical visual impairment; EEG history hypsarrhythmia; MRI brain hypoplasia of corpus callosum and enlarged ventricles Inheritance Isolated (sporadic) Age/Examination 7y (7 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 2022-11-27 10:28:01 +01:00 (CET) Date last edited N/A

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