Global Variome shared LOVD

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Phenotype #0000330001 Individual ID 00440103 Associated disease GD Diagnosis/Initial Gaucher disease Diagnosis/Definite - Phenotype details see paper; ..., no neurologic findings, severity score 9 Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis 27y 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 2023-10-27 19:20:16 +02:00 (CEST) Date last edited N/A

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