Global Variome shared LOVD

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Phenotype #0000326429 Individual ID 00436249 Associated disease XP Diagnosis/Initial xeroderma pigmentosa Diagnosis/Definite XPD Phenotype details sunburn severity score 2; 27y-first cancer, basal cell carcinoma; no malignant melanoma; >40 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 2; unscheduled DNA synthesis 75 Inheritance Familial, autosomal recessive Age/Examination 65y (65 years) Age/Diagnosis 55y 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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