Phenotype #0000171335

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00183455
Associated disease	MYOP
Phenotype details	onset congenital, congenital arthrogryposis, no muscle weakness, normal elevated CPK (1x), biopsy fiber type dystroportion
Diagnosis/Initial	myopathy
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	00y00m01d
Phenotype/Onset	congenital arthrogryposis
Protein	-
Owner name	Johan den Dunnen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2019-03-02 21:15:41 +01:00 (CET)
Date last edited	N/A

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