| Contact us | |
| Return to database |
Prevalence (%) of clinical parameters based on data from 1 references describing 7 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 |
| Diarrhea | digestive | 100 % | 18716613 | 2015-09-18 | |
| Thumb abnormalities | skeletal | 86 % | 18716613 | 2015-09-18 | |
| Radial hypoplasia | skeletal | 86 % | 18716613 | 2015-09-18 | |
| Patellar hypoplasia | skeletal | 71 % | 18716613 | 2015-09-18 | |
| Cafe-au-lait spots | integumentary | 57 % | 18716613 | 2015-09-18 | |
| High arched palate | skeletal | 57 % | 18716613 | 2015-09-18 | |
| Feeding difficulties | digestive | 43 % | 18716613 | 2015-09-18 | |
| Joint dislocation | skeletal | 29 % | 18716613 | 2015-09-18 | |
| Cancer | skeletal | 29 % | 18716613 | 2015-09-18 |
List of references:
The mutation spectrum in RECQL4 diseases.
H Annika Siitonen, Jenni Sotkasiira, Martine Biervliet, Abdelmadjid Benmansour, Yline Capri, Valerie Cormier-Daire, Barbara Crandall, Katariina Hannula-Jouppi, Raoul Hennekam, Denise Herzog, Kathelijn Keymolen, Marita Lipsanen-Nyman, Peter Miny, Sharon E Plon, Stefan Riedl, Ajoy Sarkar, Fernando R Vargas, Alain Verloes, Lisa L Wang, Helena Kääriäinen, Marjo Kestilä,
European journal of human genetics : EJHG - Feb 2009