Xeroderma pigmentosum group A
XPA

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Prevalence (%) of clinical parameters based on data from 1 references describing 11 individuals







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Sun sensitivity integumentary 100 % 18567921 2013-04-02
Dysarthria nervous 100 % 18567921 2013-04-02
Ataxia nervous 100 % 18567921 2013-04-02
Cerebral atrophy nervous 100 % 18567921 2013-04-02
Cerebellar atrophy nervous 100 % 18567921 2013-04-02
Neuropathy nervous 89 % 18567921 2013-04-02
Short stature skeletal 89 % 18567921 2013-04-02
Microcephaly nervous 89 % 18567921 2013-04-02
Developmental delay nervous 89 % 18567921 2013-04-02
Hearing loss nervous 89 % 18567921 2013-04-02
Mental retardation nervous 89 % 18567921 2013-04-02
Pyramidal signs nervous 73 % 18567921 2013-11-14
Basal ganglia pathology nervous 55 % 18567921 2013-11-14
Cancer integumentary 50 % 18567921 2013-04-02
Chorea nervous 44 % 18567921 2013-04-02



List of references:


Neurological symptoms and natural course of xeroderma pigmentosum.
Anu Anttinen, Leena Koulu, Eeva Nikoskelainen, Raija Portin, Timo Kurki, Matti Erkinjuntti, Nicolaas G J Jaspers, Anja Raams, Michael H L Green, Alan R Lehmann, Jonathan F Wing, Colin F Arlett, Reijo J Marttila,



Brain : a journal of neurology - Aug 2008