Phenotype #0000351724

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00466360
Associated disease	LGMDR12;LGMD2L
Phenotype details	Highly elevated creatine kinase Abdominal pain
Diagnosis/Initial	LGMD
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMDR12
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Camille Verebi
Database submission license
Created by	Camille Verebi
Date created	2025-08-22 17:45:55 +02:00 (CEST)
Date last edited	2025-08-25 15:37:58 +02:00 (CEST)

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