Phenotype #0000330540

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00440628
Associated disease	XP
Diagnosis/Initial	-
Diagnosis/Definite	XPA
Phenotype details	see paper; ..., pink polypoid tumour posterior aspect right shoulder; 3y-freckling skin; sun expoure gives mild symptoms sun-burn with erythema and burning
Inheritance	Familial, autosomal recessive
Age/Examination	61y (61 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-05 13:31:51 +01:00 (CET)
Date last edited	N/A

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