Phenotype #0000203329

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00265542
Associated disease	MD
Phenotype details	see paper; …, hyper CKemia
Diagnosis/Initial	dysferlinopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	hyperCKemia
Age/Examination	-
Age/Diagnosis	22y
Age/Onset	18y
Phenotype/Onset	hyper CKemia
Protein	-
Owner name	Rumiko Izumi
Database submission license
Created by	Johan den Dunnen
Date created	2019-08-23 12:48:12 +02:00 (CEST)
Date last edited	2020-05-02 19:17:28 +02:00 (CEST)

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