Phenotype #0000052850

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00073180
Associated disease	LGMDR2;LGMD2B
Phenotype details	Difficulty to rise from floor (HP:0004302), no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	30y (30 years)
Age/Diagnosis	-
Age/Onset	18y
Phenotype/Onset	Difficulty to rise from floor (HP:0004302)
Protein	-
Owner name	Pieter Klap
Database submission license	No license selected
Created by	Pieter Klap
Date created	2016-06-09 14:16:35 +02:00 (CEST)
Date last edited	2016-10-11 12:31:54 +02:00 (CEST)

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