Phenotype #0000231959

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00306118
Associated disease	XP
Diagnosis/Initial	xeroderma pigmentosum
Diagnosis/Definite	-
Phenotype details	progressive neurodegeneration, dementia, severe generalized brain atrophy (onset 15y); deceased 37y
Inheritance	Familial, autosomal recessive
Age/Examination	37y (37 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-07-08 14:23:39 +02:00 (CEST)
Date last edited	N/A

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