Phenotype #0000052873

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00073202
Associated disease	?
Diagnosis/Initial	proximodistal myopathy
Diagnosis/Definite	-
Phenotype details	no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236)
Inheritance	Familial, autosomal recessive
Age/Examination	38y (38 years)
Age/Diagnosis	-
Age/Onset	19y
Phenotype/Onset	Waddling gait (HP:0002515)
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Pieter Klap
Database submission license	No license selected
Created by	Pieter Klap
Date created	2016-06-10 10:42:38 +02:00 (CEST)
Date last edited	2017-09-08 13:02:04 +02:00 (CEST)

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