Phenotype #0000167937

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00219399
Associated disease	CMH
Phenotype details	20y-ECG hypertrophic cardiomyopathy; 4th decade slowly progressing weakness proximal muscles four limbs, difficulties on stairs and lifting heavy objects; ...
Diagnosis/Initial	protein aggregate myopathies
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	60y (60 years)
Age/Diagnosis	-
Age/Onset	15y
Phenotype/Onset	dyspnoea upon exertion
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-02-09 18:16:49 +01:00 (CET)
Date last edited	2019-02-09 18:22:00 +01:00 (CET)

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