Global Variome shared LOVD

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

Phenotype #0000326391 Individual ID 00436211 Associated disease XP Diagnosis/Initial xeroderma pigmentosa Diagnosis/Definite XPC Phenotype details sunburn severity score 0; no malignant melanoma; 2 nonmelanoma skin cancers; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 1 Inheritance Familial, autosomal recessive Age/Examination 6y (6 years) Age/Diagnosis 1y 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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