Phenotype #0000359263

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00474470
Associated disease	MD
Phenotype details	ambulant with aid; creatine kinase level (5557 U/L); hypothyroid
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMDR2
Age/Examination	39y (39 years)
Age/Diagnosis	-
Age/Onset	10y
Phenotype/Onset	difficulty climbing stairs
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-17 19:02:00 +01:00 (CET)
Date last edited	N/A

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