Global Variome shared LOVD

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Phenotype #0000333758 Individual ID 00444505 Associated disease NDD Diagnosis/Initial neurodevelopmental disorders Diagnosis/Definite - Phenotype details Hypotonia, severe global developmental delay, behavior troubles, trunk hyperpigmentation, short stature -3 SD, bilateral hearing impairement, short corpus callosum Inheritance Isolated (sporadic) Age/Examination 10y-20y 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 2023-12-24 18:16:19 +01:00 (CET) Date last edited N/A

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