Phenotype #0000288828

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00395629
Associated disease	LGMD
Phenotype details	lower limbs proximal MRC 2, lower limbs distal MRC 5, upper limbs proximal MRC 4, upper limbs distal MRC 5, CK level normal, scapular winging, FVC 0.76, not wheelchair bound
Diagnosis/Initial	LGMD, adult onset
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMDR21
Age/Examination	50y (50 years)
Age/Diagnosis	-
Age/Onset	20y-30y
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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