Phenotype #0000053567

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00073753
Associated disease	LGMDR2;LGMD2B
Phenotype details	Pelvic girdle muscle weakness (HP:0003749), Inability to walk (HP:0002540), Lower limb amyotrophy (HP:0007210), no calf muscle hypertrophy (-HP:0008981), Reduced muscle fiber dysferlin (HP:0030115),
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	52y
Age/Onset	24y
Phenotype/Onset	Pelvic girdle muscle weakness (HP:0003749)
Protein	-
Owner name	Pieter Klap
Database submission license	No license selected
Created by	Pieter Klap
Date created	2016-06-23 11:25:23 +02:00 (CEST)
Date last edited	2016-10-11 12:31:54 +02:00 (CEST)