Global Variome shared LOVD

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Phenotype #0000333766 Individual ID 00444513 Associated disease NDD Diagnosis/Initial neurodevelopmental disorders Diagnosis/Definite - Phenotype details Severe global developmental delay, walked at 4 years old, short stature, cerebellar atrophy Inheritance Familial, autosomal recessive Age/Examination 20y-40y 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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