Phenotype #0000067627

Individual ID 00088154
Associated disease Danon;GSD2B
Phenotype details see paper; ..., 12y-subclinical
jaundice, viral hepatitis excluded (serology; 18y-easy fatigability after mild effort; 19y-ECG revealed bradycardia, WPW syndrome; 22y-very low aerobic resistance (tread-mill test); 27y-chest X-ray mild cardiomegaly; women have no raised CK
Diagnosis/Initial -
Inheritance Familial, X-linked dominant
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2016-11-18 22:41:18 +01:00 (CET)
Date last edited 2016-11-18 23:04:12 +01:00 (CET)

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