Global Variome shared LOVD

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

Phenotype #0000326373 Individual ID 00436193 Associated disease XP Diagnosis/Initial xeroderma pigmentosa Diagnosis/Definite XPA Phenotype details sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 4; unscheduled DNA synthesis 2 Inheritance Familial, autosomal recessive Age/Examination 15y (15 years) Age/Diagnosis 8y 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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