Phenotype #0000347933

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00460205
Associated disease	BMD/DMD
Diagnosis/Initial	BMD/DMD
Diagnosis/Definite	BMD
Phenotype details	see paper; ..., motor delay; 4y-muscle biopsy; CK level 11,474 (U/L); learning disability (iq 70); mild left ventricular dilatation; no ventilatory support; 18y-0.5h walking possible
Inheritance	Unknown
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	2y
Phenotype/Onset	motor delay
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-01-21 15:13:45 +01:00 (CET)
Date last edited	N/A

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