Phenotype #0000326438

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00436258
Associated disease	XP
Diagnosis/Initial	xeroderma pigmentosa
Diagnosis/Definite	XPF
Phenotype details	sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 6; unscheduled DNA synthesis 4
Inheritance	Familial, autosomal recessive
Age/Examination	48y (48 years)
Age/Diagnosis	30y
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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