| Contact us | |
| Return to database |
Prevalence (%) of clinical parameters based on data from 6 references describing 522 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 |
| Ataxia | nervous | 100 % | 3087203 | 2011-10-19 | |
| Chorea | nervous | 100 % | 3087203 | 2012-01-24 | |
| Short stature | skeletal | 100 % | 3087203 | 2011-10-03 | |
| Mental retardation | nervous | 100 % | 3087203 | 2011-10-03 | |
| Developmental delay | nervous | 100 % | 3087203 | 2011-10-03 | |
| Cardiac conduction defect | circulatory | 100 % | 10480210 | 2011-10-03 | |
| Microcephaly | nervous | 93 % | 14649546 | 2011-10-03 | |
| Gastrointestinal dysmotility | digestive | 89 % | 11247006 | 2011-10-12 | |
| Seizures | nervous | 81 % | 17011329 | 2011-10-02 | |
| Hyperventilation | respiratory | 66 % | 14649546 | 2011-10-03 | |
| non-walking | nervous | 48 % | 14649546 | 2011-10-03 | |
| Seizures | nervous | 41 % | 14649546 | 2011-10-03 | |
| Pyrosis | digestive | 32 % | 11247006 | 2011-10-03 | |
| Scoliosis | skeletal | 31 % | 14649546 | 2011-10-03 | |
| Cardiac conduction defect | circulatory | 26 % | 10208957 | 2011-10-03 |
List of references:
Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence.
B Hagberg, I Witt-Engerström,
American journal of medical genetics. Supplement - 1986
Reduced heart rate variability in patients affected with Rett syndrome. A possible explanation for sudden death.
F Guideri, M Acampa, G Hayek, M Zappella, T Di Perri,
Neuropediatrics - Jun 1999
Clinical variability in Rett syndrome.
SakkuBai Naidu, Genila Bibat, Lisa Kratz, Richard I Kelley, Jonathan Pevsner, Eric Hoffman, Carmen Cuffari, Charles Rohde, Mary E Blue, Michael V Johnston,
Journal of child neurology - Oct 2003
Functional status, medical impairments, and rehabilitation resources in 84 females with Rett syndrome: a snapshot across the world from the parental perspective.
H Leonard, S Fyfe, S Leonard, M Msall,
Disability and rehabilitation -
Predictors of seizure onset in Rett syndrome.
Le Jian, Lakshmi Nagarajan, Nicholas de Klerk, David Ravine, Carol Bower, Alison Anderson, Sarah Williamson, John Christodoulou, Helen Leonard,
The Journal of pediatrics - Oct 2006
Prolonged QT interval in Rett syndrome.
C J Ellaway, G Sholler, H Leonard, J Christodoulou,
Archives of disease in childhood - May 1999