Phenotype #0000288714

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00395515
Associated disease	LGMD
Phenotype details	6y-asymptomatic; initial proximal weakness, calf hypertrophy, no calf atrophystill ambulant, no cardiac involvement, no pulmonary involvement, CK level 20,400 IU/L
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD2D
Age/Examination	6y (6 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-12-06 20:03:57 +01:00 (CET)
Date last edited	N/A

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