Phenotype #0000321502

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00228180
Associated disease	LGMD
Phenotype details	late teenage slowly progressive muscle weakness; 27y-bilateral Achilles contractures, mild calf hypertrophy, asymmetric scapular winging, normal facial strength except mild weakness eye closure; moderate weakness hip movements/knee extension, mild weakness most other muscle groups, except hand/wrist movement
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMDR7;GMD2G
Age/Examination	32y (32 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-01-24 19:31:06 +01:00 (CET)
Date last edited	N/A