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Prevalence (%) of clinical parameters based on data from 1 references describing 9 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 % | 16947863 | 2015-08-12 | |
| Decreased recovery of RNA synthesis after DNA damage | multi | 100 % | 16947863 | 2015-08-12 | |
| Cellular UV sensitivity | multi | 100 % | 16947863 | 2015-08-12 | |
| Skin pigmentation changes | integumentary | 78 % | 16947863 | 2015-08-12 | |
| Hearing loss | nervous | 78 % | 16947863 | 2015-08-12 | |
| Retinitis pigmentosa | nervous | 67 % | 16947863 | 2015-08-12 | |
| Short stature | multi | 56 % | 16947863 | 2015-08-12 | |
| Hypogonadism | endocrine | 50 % | 16947863 | 2015-08-12 | |
| Cancer | integumentary | 44 % | 16947863 | 2015-08-12 | |
| Cataract | nervous | 33 % | 16947863 | 2015-08-12 | |
| Hyperactive reflexes | nervous | 33 % | 16947863 | 2015-08-12 | |
| Developmental delay | nervous | 33 % | 16947863 | 2015-08-12 | |
| Optic atrophy | nervous | 22 % | 16947863 | 2015-08-12 | |
| Hypermetropia | nervous | 22 % | 16947863 | 2015-08-12 | |
| Microcephaly | nervous | 13 % | 16947863 | 2015-08-12 | |
| Areflexia | nervous | 11 % | 16947863 | 2015-08-12 |
List of references:
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
Kyu-Seon Oh, Sikandar G Khan, N G J Jaspers, Anja Raams, Takahiro Ueda, Alan Lehmann, Peter S Friedmann, Steffen Emmert, Alexi Gratchev, Katherine Lachlan, Anneke Lucassan, Carl C Baker, Kenneth H Kraemer,
Human mutation - Nov 2006