Global Variome shared LOVD

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Phenotype #0000328635 Individual ID 00438737 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite DEE92 Phenotype details see paper; ..., global developmental delay, severe intellectual disability; <5m seizure; EEG multifocal (bi-frontal predominance predominant), slow background; MRI brain delay in myelination, reduction white matter; congenital microcephaly, axial hypotonia, peripheral hypertonia, cortical visual impairment, choreoathetosis, dystonia, failure to thrive, intractable seizures Inheritance Isolated (sporadic) Age/Examination 05y01m (5 years, 1 month) 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 13:26:16 +02:00 (CEST) Date last edited N/A

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