Phenotype #0000232019

Individual ID 00306175
Associated disease XP
Diagnosis/Initial xeroderma pigmentosum
Diagnosis/Definite XPF
Phenotype details see paper; ..., mild ocular photophobia from childhood, acute skin reactions upon sunlight exposure; >27y-basal and squamous cell carcinomas; >45y-progressive neurologic symptoms, intellectual decline, mild chorea and ataxia, marked cerebral and cerebelar atrophy
Inheritance Familial, autosomal recessive
Age/Examination 62y (62 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-07-10 16:18:50 +02:00 (CEST)
Date last edited N/A

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