Global Variome shared LOVD

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Phenotype #0000330075 Individual ID 00440180 Associated disease GD Diagnosis/Initial Gaucher disease Diagnosis/Definite GD1 Phenotype details see paper; ..., 8y-splenectomy; 41y-severe bone involvement, chronic bone pain,massive hepatomegaly Inheritance Familial, autosomal recessive Age/Examination 41y (41 years) Age/Diagnosis 8y 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 2023-10-30 10:19:13 +01:00 (CET) Date last edited N/A

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