Phenotype #0000305279

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00413298
Associated disease	LGMDR1;LGMD2A
Phenotype details	Proximal muscle weakness in lower limbs HP:0008994 Proximal muscle weakness in upper limbs HP:0008997 Achilles tendon contracture HP:0001771
Diagnosis/Initial	muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMDR1
Age/Examination	18y (18 years)
Age/Diagnosis	18y
Age/Onset	16y
Phenotype/Onset	-
Protein	-
Owner name	Alberto Hidalgo-Bravo
Database submission license
Created by	Alberto Hidalgo-Bravo
Date created	2022-07-14 02:43:11 +02:00 (CEST)
Date last edited	2022-07-14 10:59:05 +02:00 (CEST)

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