Global Variome shared LOVD

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Phenotype #0000353429 Individual ID 00468277 Associated disease ? Diagnosis/Initial hepatosplenomegaly Diagnosis/Definite CESD Phenotype details see paper; ..., incidental finding hepatosplenomegaly, no significant clini- cal symptoms. Inheritance Familial, autosomal recessive Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-11-07 20:00:40 +01:00 (CET) Date last edited N/A

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