Phenotype #0000067602

Individual ID 00088096
Associated disease Danon;GSD2B
Phenotype details see paper; progressive exertional dyspnea, fatigue, abdominal discomfort, motor/mental development normal, general health good, physical function allowed sports involvement, throbbing precordium, systolic murmur left hemithorax, hepatomegaly, ...; mother died at 46y (dilated cardiomyopathy)
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 19y (19 years)
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 2016-11-17 21:57:59 +01:00 (CET)
Date last edited 2016-11-18 17:54:53 +01:00 (CET)

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