Global Variome shared LOVD

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Phenotype #0000326434 Individual ID 00436254 Associated disease XP Diagnosis/Initial xeroderma pigmentosa Diagnosis/Definite XPE Phenotype details sunburn severity score 1; 15y-first cancer, basal cell carcinoma; 2 malignant melanomas; >200 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 68 Inheritance Familial, autosomal recessive Age/Examination 62y (62 years) Age/Diagnosis 48y 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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