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Prevalence (%) of clinical parameters based on data from 2 references describing 24 individuals
Add new symptom/sign to this disease
| 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%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Sun sensitivity | integumentary | 100 % | 26010807 | 2015-08-12 | |
| Cerebellar atrophy | nervous | 100 % | 9579555 | 2015-08-12 | |
| Cerebral atrophy | nervous | 100 % | 9579555 | 2015-08-12 | |
| Ataxia | nervous | 100 % | 9579555 | 2015-08-12 | |
| Chorea | nervous | 100 % | 9579555 | 2015-08-12 | |
| Cognitive deficits | nervous | 100 % | 9579555 | 2015-08-12 | |
| Cancer | integumentary | 50 % | 26010807 | 2015-08-12 | |
| Cerebellar atrophy | nervous | 0 % | 26010807 | 2015-08-12 | |
| Ataxia | nervous | 0 % | 26010807 | 2015-08-12 | |
| Cerebral atrophy | nervous | 0 % | 26010807 | 2015-08-12 | |
| Cognitive deficits | nervous | 0 % | 26010807 | 2015-08-12 | |
| Chorea | nervous | 0 % | 26010807 | 2015-08-12 |
List of references:
Xeroderma pigmentosum complementation group F: Report of a case and review of Japanese patients.
Yukari Tofuku, Yoshimasa Nobeyama, Ryoichi Kamide, Shinichi Moriwaki, Hidemi Nakagawa,
The Journal of dermatology - Sep 2015
Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease.
A M Sijbers, P C van Voorst Vader, J W Snoek, A Raams, N G Jaspers, W J Kleijer,
The Journal of investigative dermatology - May 1998