Phenotype #0000326422

Individual ID 00436242
Associated disease XP
Diagnosis/Initial xeroderma pigmentosa
Diagnosis/Definite XPD
Phenotype details sunburn severity score 2; 10y-first cancer, basal cell carcinoma; no malignant melanoma; 4 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 5; unscheduled DNA synthesis 19
Inheritance Familial, autosomal recessive
Age/Examination 22y (22 years)
Age/Diagnosis 14y
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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