Phenotype #0000326430

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00436250
Associated disease	XP
Diagnosis/Initial	xeroderma pigmentosa
Diagnosis/Definite	XPD
Phenotype details	sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 36
Inheritance	Familial, autosomal recessive
Age/Examination	21y (21 years)
Age/Diagnosis	4y
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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