Global Variome shared LOVD

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Phenotype #0000321984 Individual ID 00431390 Associated disease ? Diagnosis/Initial - Diagnosis/Definite CGD;DMD Phenotype details see paper; ..., 3m-deceased (fulminant infection); 41w+1 birth Cesarean section macrosomia; 19d neonatal sepsis, soft/flat anterior fontanelle, mild tachypnea, clear air entry, heart rate 145 beats/min, no hepatosplenomegaly, full range motion four limbs, normoactive bowel sound; raised CK level, decreased gp91 expression, positive nitroblue tetrazolium test Inheritance Familial, X-linked recessive Age/Examination 00y03m (3 months) 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 2023-02-11 21:40:07 +01:00 (CET) Date last edited N/A

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