Phenotype #0000353044

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00467892
Associated disease	LGMD
Phenotype details	leg weakness, calf hypertrophy, serum CK level 9760 UI/L
Diagnosis/Initial	sarcoglycanopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMDR5
Age/Examination	3y (3 years)
Age/Diagnosis	6y
Age/Onset	1y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-02 20:50:54 +01:00 (CET)
Date last edited	N/A

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