Global Variome shared LOVD

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Phenotype #0000203882 Individual ID 00266102 Associated disease IMD Phenotype details infection with Escherichia coli and Streptococcus pneu-moniae resulting in sepsis, urinary tract infections, pneumonia, infection with CMV and VZV; hemolytic anemia, thrombocytopenia; lymphadenopathy, hepatosplenomegaly; muscular hypotonia, partial iris hypoplasia, abnormal dental enamel; 9y-died from hematopoietic stem-cell transplantation complications Diagnosis/Initial immunodeficiency Inheritance Familial, autosomal recessive Diagnosis/Definite IMD-10 Age/Examination - 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 2019-10-12 17:12:29 +02:00 (CEST) Date last edited N/A

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