Phenotype #0000353046

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00467894
Associated disease	LGMD
Phenotype details	calf hypertrophy, respiratory failure, serum CK level 17391 UI/L
Diagnosis/Initial	sarcoglycanopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMDR6
Age/Examination	2y (2 years)
Age/Diagnosis	9y
Age/Onset	2y
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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