Global Variome shared LOVD

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Phenotype #0000328607 Individual ID 00438704 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite DEE92 Phenotype details see paper; ..., severe global developmental delay; 4m-seizure; EEG bi-frontal predominance spike-wave, hypsarrhythmia, continuous diffuse spike-wave; MRI brain 9d/1y normal; acquired microcephaly, non-ambulation, axial hypotonia, spasticity, nystagmus, cortical visual impairment, intractable seizures Inheritance Isolated (sporadic) Age/Examination 04y (4 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 2023-10-21 19:20:17 +02:00 (CEST) Date last edited 2023-10-23 12:29:01 +02:00 (CEST)

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