Phenotype #0000053420

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00073674
Associated disease	LGMDR2;LGMD2B
Phenotype details	no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), Muscle weakness (HP:0001324), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114),
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	27y (27 years)
Age/Diagnosis	-
Age/Onset	22y
Phenotype/Onset	-
Protein	-
Owner name	Pieter Klap
Database submission license	No license selected
Created by	Pieter Klap
Date created	2016-06-17 14:24:06 +02:00 (CEST)
Date last edited	2016-10-11 12:31:54 +02:00 (CEST)

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