Global Variome shared LOVD

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Phenotype #0000322130 Individual ID 00431554 Associated disease CGDX Phenotype details see paper; ..., 1y-splenomegaly, mild thrombocytopenia; significant infections, including Aspergillus lung infections requiring prolonged amphotericin use, Nocardia pneumonia (linezolid treated); several pneumonias; photophobia, vasculitic rash to all azoles Diagnosis/Initial chronic granulomatous disease Inheritance Familial, X-linked recessive Diagnosis/Definite CGDX Age/Examination 16y (16 years) Age/Diagnosis - 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 2023-02-14 18:33:44 +01:00 (CET) Date last edited N/A

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