Phenotype #0000052974

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00073299
Associated disease	LGMD
Phenotype details	Elevated serum creatine phosphokinase (HP:0003236), myositis (HP:0100614), Reduced muscle fiber dysferlin (HP:0030115)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	19y
Phenotype/Onset	-
Protein	-
Owner name	Pieter Klap
Database submission license	No license selected
Created by	Pieter Klap
Date created	2016-06-10 13:14:14 +02:00 (CEST)
Date last edited	2016-10-11 12:31:54 +02:00 (CEST)

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