Global Variome shared LOVD

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Phenotype #0000330078 Individual ID 00440183 Associated disease GD Diagnosis/Initial splenomegaly Diagnosis/Definite GD1 Phenotype details see paper; ..., 6y6m-splenomegaly, no bone pain, no neurological symptoms; 13y-6m-hypersplenism, left flank pain, spleen large and hard, filling whole left abdomen, splenectomy Inheritance Familial, autosomal recessive Age/Examination 21y (21 years) 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 2023-10-30 11:36:57 +01:00 (CET) Date last edited N/A

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