Phenotype #0000119161

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00146420
Associated disease	BTHLM
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	childhood onset slowly progressive limb-girdle myopathy with joint contractures in fingers ("prayer sign")
Inheritance	Familial, autosomal dominant
Age/Examination	-
Age/Diagnosis	46y
Age/Onset	-
Phenotype/Onset	Bethlem myopathy
Protein	-
Owner name	Payam Soltanzadeh
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2017-12-28 09:32:38 +01:00 (CET)
Date last edited	N/A

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