Global Variome shared LOVD

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Phenotype #0000352469 Individual ID 00467263 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite DEE119 Phenotype details see paper; ..., global developmental delay, hypotonia, gross motor delay; MRI brain symmetric hyperintensity bilateral globus pallidus, slightly widened extracerebral space right frontal lobe Inheritance Isolated (sporadic) Age/Examination 6m11d 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 2025-10-09 14:50:05 +02:00 (CEST) Date last edited N/A

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