Phenotype #0000139250

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00174423
Associated disease	BMD
Phenotype details	inherited cardiomyopathy, Becker muscular dystrophy in family; 12y-asymmetric left ventricular hypertrophy, long QT interval, mild muscular weakness developed subsequently
Diagnosis/Initial	BMD
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	BMD
Age/Examination	-
Age/Onset	05y
Phenotype/Onset	psychomotor retardation
Age/Diagnosis	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-08-09 23:36:23 +02:00 (CEST)
Date last edited	N/A

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