Global Variome shared LOVD

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Phenotype #0000347525 Individual ID 00459451 Associated disease NDD Diagnosis/Initial neurodevelopmental delay, epilepsy Diagnosis/Definite - Phenotype details see paper; ..., 6y-onset seizures; complex partial seizure and generalized tonic-clonic seizures 2 times per week; treated seizure-free 8m; EEG sharp waves and sharp slow waves temporal/central/parietal regions; MRI brain normal; global developmental delay, intellectual disability, speech delay, motor delay; abnormal gait; genu varum Inheritance Familial, autosomal recessive Age/Examination 8y (8 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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