Global Variome shared LOVD

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

Phenotype #0000326390 Individual ID 00436210 Associated disease XP Diagnosis/Initial xeroderma pigmentosa Diagnosis/Definite XPC Phenotype details sunburn severity score 0; 4y-first cancer, basal cell carcinoma; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 8 Inheritance Familial, autosomal recessive Age/Examination 5y (5 years) Age/Diagnosis 5y Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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