Phenotype #0000232025

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00306179
Associated disease	XP
Diagnosis/Initial	xeroderma pigmentosum
Diagnosis/Definite	XPF
Phenotype details	severe XP with neurodegeneratio
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-07-10 17:11:35 +02:00 (CEST)
Date last edited	N/A

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