Phenotype #0000123870

Individual ID 00151502
Associated disease CMD
Phenotype details LVEF 25%, LVDd 64, LVDs 57; calf hypertrophy; CPK level 2000-4000; no intellectual disability (-HP:0001249)
Diagnosis/Initial dilated cardiomyopathy (DCM)
Inheritance Isolated (sporadic)
Diagnosis/Definite CMD-1X
Age/Examination -
Age/Diagnosis -
Age/Onset 11y
Phenotype/Onset -
Protein IHC/WB DAG1 severely reduced
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 2009-03-20 15:52:14 +01:00 (CET)
Date last edited 2012-03-09 18:55:42 +01:00 (CET)

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