Phenotype #0000067637

Individual ID 00088164
Associated disease Danon;GSD2B
Phenotype details 12y-HCM; 14y-acute episode heart failure, ECG concentric hypertrophy dilated left ventricle with moderate
systolic dysfunction, neurological/EMG normal, increased levels serum creatine kinase (638 U/l); 15y orthotopic heart transplantation
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 12y
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 20:57:32 +01:00 (CET)
Date last edited N/A

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