Phenotype #0000067629

Individual ID 00088156
Associated disease Danon;GSD2B
Phenotype details see paper; ..., presented with HCM as teenager, progressed to dilated
cardiomyopathy/heart failure, skeletal myopathy, Wolff-Parkinson-White syndrome; teenage carrier sister has HCM, no skeletal myopathy/WPW, ...
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 2016-11-19 18:51:28 +01:00 (CET)
Date last edited N/A

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