Phenotype #0000326447

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00436267
Associated disease	XP
Diagnosis/Initial	xeroderma pigmentosa
Diagnosis/Definite	XPV
Phenotype details	sunburn severity score 0; 16y-first cancer, squamous cell carcinoma; no malignant melanoma; 5 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 144
Inheritance	Familial, autosomal recessive
Age/Examination	20y (20 years)
Age/Diagnosis	16y
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-08-31 14:14:49 +02:00 (CEST)
Date last edited	N/A

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