Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000231959 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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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