Phenotype #0000288826

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00395627
Associated disease	LGMD
Phenotype details	lower limbs proximal MRC 4-, lower limbs distal MRC 5, upper limbs proximal MRC 4, upper limbs distal MRC 5, CK level normal, scapular winging, FVC 0.72, not wheelchair bound
Diagnosis/Initial	LGMD, adult onset
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMDR21
Age/Examination	52y (52 years)
Age/Diagnosis	-
Age/Onset	40y-50y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-12-08 15:59:29 +01:00 (CET)
Date last edited	N/A

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