Phenotype #0000333249

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00383168
Associated disease	DMD
Phenotype details	elevated CK level 28060 (IU/L); 7y-still ambulant; difficulty in walking and climbing, prone to falls, waddling gait, Gowers sign, gross and fine motor skill delay, speech delay, muscle weakness, pneumonia
Diagnosis/Initial	-
Inheritance	Unknown
Diagnosis/Definite	DMD
Age/Examination	07y (7 years)
Age/Onset	06y
Phenotype/Onset	-
Age/Diagnosis	-
Protein	IHC DMD dys2 negative
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-12-10 22:12:41 +01:00 (CET)
Date last edited	N/A

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