Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000123873 Individual ID 00151505 Associated disease CMD Phenotype details LVEF 32%, LVDd 63, LVDs 52; calf hypertrophy, 26y Gowers sign; CPK level 1139; no intellectual disability (-HP:0001249) Diagnosis/Initial dilated cardiomyopathy (DCM) Inheritance Isolated (sporadic) Diagnosis/Definite CMD-1X Age/Examination - Age/Diagnosis - Age/Onset 30y Phenotype/Onset - Protein IHC/WB DAG1 severely reduced Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-03-20 15:52:15 +01:00 (CET) Date last edited 2012-03-09 18:55:42 +01:00 (CET)

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