Phenotype #0000326788

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00436665
Associated disease	LGMDR3;LGMD2D
Phenotype details	Weakness of the muscles in the shoulder and arms. Difficulties climbing stairs, standing up, and sitting down. 8 years old: Lumbar lordosis appears
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	07y (7 years)
Age/Diagnosis	07y
Age/Onset	07y
Phenotype/Onset	-
Protein	SGCA
Owner name	Nguyen Hoang
Database submission license	No license selected
Created by	Nguyen Hoang
Date created	2023-09-27 04:45:53 +02:00 (CEST)
Date last edited	2023-09-28 19:17:35 +02:00 (CEST)

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