Phenotype #0000326365

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00436185
Associated disease	XPE
Phenotype details	see paper; ..., freckle-like hyperpigmented macules in sun-exposed areas; recurrent ulceration, bleeding, crusted nodules on her nose
Diagnosis/Initial	freckle-like hyperpigmented macules in sun-exposed areas
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	28y (28 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-08-30 22:25:15 +02:00 (CEST)
Date last edited	N/A

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