Phenotype #0000080849

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00101451
Associated disease	NXD
Phenotype details	arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	WB JUP reduced size (82 kDa > 75 kDa)
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2017-03-31 16:10:09 +02:00 (CEST)
Date last edited	2019-08-02 17:48:48 +02:00 (CEST)

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