Phenotype #0000326421

Global Variome shared LOVD

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

Individual ID	00436241
Associated disease	XP
Diagnosis/Initial	xeroderma pigmentosa
Diagnosis/Definite	XPD
Phenotype details	sunburn severity score 3; 14y-first cancer, basal cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 1; neuro severity score 5; unscheduled DNA synthesis 16
Inheritance	Familial, autosomal recessive
Age/Examination	21y (21 years)
Age/Diagnosis	1y
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.