Global Variome shared LOVD

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Phenotype #0000328649 Individual ID 00438751 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite MRD56 Phenotype details see paper; ..., global developmental delay, severe intellectual disability; 3y-seizure; EEG multifocal spike-wave, bi-frontal predominance; MRI brain thin corpus calloum T2 hypersignal in white matter, enlarged lateral ventricles; acquired microcephaly, severe hypotonia, ataxia, oral and motor apraxia, intractable seizures Inheritance Isolated (sporadic) Age/Examination 07y06m (7 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 14:28:04 +02:00 (CEST) Date last edited N/A

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