| Contact us | |
| Return to database |
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 % | 23033317 | 2014-04-10 | |
| Mental retardation | nervous | 100 % | 23033317 | 2014-04-10 | |
| Microcephaly | nervous | 100 % | 23033317 | 2014-04-10 | |
| Hearing loss due to Cochlear malformation | skeletal | 100 % | 23033317 | 2014-04-10 | |
| Prominent nose | skeletal | 100 % | 23033317 | 2014-04-10 | |
| Prominent ears | integumentary | 100 % | 23033317 | 2014-04-10 | |
| Clinodactyly | skeletal | 50 % | 23033317 | 2014-04-10 | |
| Syndactyly | skeletal | 25 % | 23033317 | 2014-04-10 | |
| Ventricular septal defects | circulatory | 25 % | 23033317 | 2014-04-10 | |
| Tetralogy of Fallot | nervous | 25 % | 23033317 | 2014-04-10 |
List of references:
Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome.
José-Mario Capo-Chichi, Sanjay Kumar Bharti, Joshua A Sommers, Tony Yammine, Eliane Chouery, Lysanne Patry, Guy A Rouleau, Mark E Samuels, Fadi F Hamdan, Jacques L Michaud, Robert M Brosh, André Mégarbane, Zoha Kibar,
Human mutation - Jan 2013