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 InternationalCreative Commons License
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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