Phenotype #0000333267

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00444010
Associated disease	DMD
Phenotype details	elevated CK level 15448 (IU/L); 9y-still ambulant; walking difficulty, tiptoe walking, Gowers sign, muscle weakness
Diagnosis/Initial	DMD
Inheritance	Unknown
Diagnosis/Definite	DMD
Age/Examination	9y (9 years)
Age/Onset	6y
Phenotype/Onset	-
Age/Diagnosis	-
Protein	IHC DMD dys2 faint
Owner name	Rusdy Ghazali Malueka
Database submission license
Created by	Johan den Dunnen
Date created	2023-12-11 09:22:03 +01:00 (CET)
Date last edited	N/A

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