Global Variome shared LOVD

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Phenotype #0000347532 Individual ID 00459458 Associated disease NDD Diagnosis/Initial neurodevelopmental delay, epilepsy Diagnosis/Definite - Phenotype details see paper; ..., 1m-onset seizures; complex partial seizure; EEG multifocal spike-slow waves; MRI brain corpus callosum, cerebral atrophy; severe global developmental delay, severe intellectual disability; microcephaly, asymmetrical eyes Inheritance Familial, autosomal recessive Age/Examination 2y (2 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 2025-01-05 10:54:19 +01:00 (CET) Date last edited N/A

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