Phenotype #0000167936

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00219398
Associated disease	CMH
Phenotype details	see paper; ..., 56y-elevated creatine kinase (3.5x), cardiac hypertrophy on ultrasound; mild skeletal myopathy
Diagnosis/Initial	cardiac hypertrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	65y (65 years)
Age/Diagnosis	-
Age/Onset	56y
Phenotype/Onset	transient ischemic attack
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-02-09 08:57:51 +01:00 (CET)
Date last edited	2019-02-11 20:33:23 +01:00 (CET)

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