Global Variome shared LOVD

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Phenotype #0000328633 Individual ID 00438735 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite DEE92 Phenotype details see paper; ..., global developmental delay, severe intellectual disability; 4y-seizure; EEG bi-frontal predominance spike-wave or sharp spike-wave; MRI brain normal; acquired microcephaly, non-ambulation, hypotonia, intractable seizures Inheritance Isolated (sporadic) Age/Examination 14y06m (14 years, 6 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 2023-10-23 13:16:15 +02:00 (CEST) Date last edited N/A

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