Global Variome shared LOVD

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Phenotype #0000356249 Individual ID 00471410 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite IDLDP Phenotype details see paper; ..., 13y-seizures; moderate developmental delay; moderate-severe intellectual disability; hyperactivity, aggression; MRI brain enlarged cerebrospinal fluid spaces; progressive ataxia in adulthood Inheritance Isolated (sporadic) Age/Examination 43y (43 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 2025-12-21 13:37:07 +01:00 (CET) Date last edited N/A

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