Global Variome shared LOVD

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Phenotype #0000330023 Individual ID 00440125 Associated disease GD Diagnosis/Initial Gaucher disease Diagnosis/Definite - Phenotype details see paper; ...,asymptomatic, mild hepatosplenomegaly Inheritance Familial, autosomal recessive Age/Examination 17y (17 years) Age/Diagnosis 17y 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 2023-10-29 09:30:48 +01:00 (CET) Date last edited N/A

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