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Prevalence (%) of clinical parameters based on data from 1 references describing 4 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 |
| Short stature | skeletal | 100 % | 24911150 | 2016-10-04 | |
| Telangiectasia | circulatory | 100 % | 24911150 | 2016-10-04 | |
| Photophobia | nervous | 100 % | 24911150 | 2016-10-04 | |
| Sun sensitivity | integumentary | 100 % | 24911150 | 2016-10-04 | |
| Developmental delay | nervous | 100 % | 24911150 | 2016-10-04 | |
| Ataxia | nervous | 100 % | 24911150 | 2016-10-04 | |
| Cerebellar atrophy | nervous | 100 % | 24911150 | 2016-10-04 | |
| Hearing loss | nervous | 100 % | 24911150 | 2016-10-04 | |
| Hypogonadism | reproductive | 100 % | 24911150 | 2016-10-04 | |
| Muscle weakness | nervous | 100 % | 24911150 | 2016-10-04 | |
| Microcephaly | skeletal | 75 % | 24911150 | 2016-10-04 | |
| Dysphagia | nervous | 75 % | 24911150 | 2016-10-04 | |
| Cancer | integumentary | 25 % | 24911150 | 2016-10-04 |
List of references:
Hypomorphic PCNA mutation underlies a human DNA repair disorder.
Emma L Baple, Helen Chambers, Harold E Cross, Heather Fawcett, Yuka Nakazawa, Barry A Chioza, Gaurav V Harlalka, Sahar Mansour, Ajith Sreekantan-Nair, Michael A Patton, Martina Muggenthaler, Phillip Rich, Karin Wagner, Roselyn Coblentz, Constance K Stein, James I Last, A Malcolm R Taylor, Andrew P Jackson, Tomoo Ogi, Alan R Lehmann, Catherine M Green, Andrew H Crosby,
The Journal of clinical investigation - Jul 2014