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Prevalence (%) of clinical parameters based on data from 1 references describing 6 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 |
| Facial dysmorphism | multi | 100 % | 22444670 | 2024-05-28 | |
| Trichorrhexis nodosa | integumentary | 100 % | 22444670 | 2024-05-28 | |
| Colitis | digestive | 100 % | 22444670 | 2024-05-28 | |
| Diarrhea | digestive | 100 % | 22444670 | 2024-05-28 | |
| Poor response to childhood vaccinations | lymphatic | 100 % | 22444670 | 2024-05-28 | |
| Hypogammaglobulinemia | lymphatic | 100 % | 22444670 | 2024-05-28 | |
| Broad nasal bridge | multi | 100 % | 22444670 | 2024-05-28 | |
| Hypertelorism | skeletal | 100 % | 22444670 | 2024-05-28 | |
| Intestinal villous atrophy | digestive | 60 % | 22444670 | 2024-05-28 | |
| Immune deficiency | lymphatic | 50 % | 22444670 | 2024-05-28 | |
| Prematurity (<37 weeks | multi | 40 % | 22444670 | 2024-05-28 | |
| Siderosis | nervous | 33 % | 22444670 | 2024-05-28 | |
| Cirrhosis | digestive | 33 % | 22444670 | 2024-05-28 | |
| Cardiac structural defects | circulatory | 25 % | 22444670 | 2024-05-28 |
List of references:
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.
Alexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, Bertrand Roquelaure, Egritas Odul, Ersin Sayar, Hilary Smith, Virginie Colomb, Nicolas Andre, Jean-Pierre Hugot, Olivier Goulet, Caroline Lacoste, Jacques Sarles, Julien Royet, Nicolas Levy, Catherine Badens,
American journal of human genetics - Apr 2012