Phenotype #0000326395

Global Variome shared LOVD

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

Individual ID	00436215
Associated disease	XP
Diagnosis/Initial	xeroderma pigmentosa
Diagnosis/Definite	XPC
Phenotype details	sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 9
Inheritance	Familial, autosomal recessive
Age/Examination	9y (9 years)
Age/Diagnosis	7y
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.