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	CK level 1,900U/L; weakness muscles shoulder/arms, difficulties climbing stairs/standing up/sitting down; 8y-lumbar lordosis appears
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMDR3
Age/Examination	14yy
Age/Diagnosis	07y
Age/Onset	07y
Phenotype/Onset	-
Protein	-
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	2025-11-04 17:05:33 +01:00 (CET)

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