Phenotype #0000326422

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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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
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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