Phenotype #0000326936

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00437016
Associated disease	DMD
Phenotype details	see paper; ..., birth elective caesarian; hypotonia; waddling gait; difficulty in climbing stairs, intellectual disability; elevated CK (5.307 U/L)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	DMD
Age/Examination	07y06m (7 years, 6 months)
Age/Onset	-
Phenotype/Onset	-
Age/Diagnosis	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-10-11 19:51:26 +02:00 (CEST)
Date last edited	N/A

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