Phenotype #0000353096

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00467944
Associated disease	DMD
Phenotype details	see paper; ...,; serum CK level 15677 IU/L; no loss Independent walking;
Diagnosis/Initial	DMD
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMDR4
Age/Examination	16y (16 years)
Age/Onset	10y
Phenotype/Onset	-
Age/Diagnosis	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-03 21:05:11 +01:00 (CET)
Date last edited	N/A

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