Phenotype #0000326456

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00436276
Associated disease	XP
Diagnosis/Initial	xeroderma pigmentosa
Diagnosis/Definite	XPV
Phenotype details	sunburn severity score 0; 33y-first cancer, malignant melanoma; 10 malignant melanomas; >10 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 99
Inheritance	Familial, autosomal recessive
Age/Examination	67y (67 years)
Age/Diagnosis	44y
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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.