Global Variome shared LOVD

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Phenotype #0000306401 Individual ID 00414602 Associated disease IMD Phenotype details see paper; ..., common variable immunodeficiency, glomerulonephritis, coagulopathy, multiple hormone deficiencies, abnormalities neutrophil granules; 21y-died of graft rejection and possible cerebral hemorrhage Diagnosis/Initial immunodeficiency Inheritance Familial, autosomal recessive Diagnosis/Definite IMD73C Age/Examination 21y (21 years) Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-07-29 12:56:55 +02:00 (CEST) Date last edited N/A

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