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Prevalence (%) of clinical parameters based on data from 1 references describing 601 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 |
| Coarse facial features | skeletal | 86 % | 24675674 | 2018-03-04 | |
| Corneal opacities | nervous | 71 % | 24675674 | 2018-03-04 | |
| Kyphosis | skeletal | 70 % | 24675674 | 2018-03-04 | |
| Hepatomegaly | digestive | 70 % | 24675674 | 2018-03-04 | |
| Hernia | integumentary | 59 % | 24675674 | 2018-03-04 | |
| Sleep disturbances | nervous | 52 % | 24675674 | 2018-03-04 | |
| Splenomegaly | circulatory | 51 % | 24675674 | 2018-03-04 | |
| Cardiac fibrosis | circulatory | 49 % | 24675674 | 2018-03-04 | |
| Cardiac valve thickening | circulatory | 49 % | 24675674 | 2018-03-04 | |
| Cognitive deficits | nervous | 46 % | 24675674 | 2018-03-04 | |
| Dysostosis multiplex | skeletal | 44 % | 24675674 | 2018-03-04 | |
| Enlarged tongue | digestive | 41 % | 24675674 | 2018-03-04 | |
| Contracture | skeletal | 38 % | 24675674 | 2018-03-04 | |
| Scoliosis | skeletal | 24 % | 24675674 | 2018-03-04 | |
| Cardiomyopathy | circulatory | 15 % | 24675674 | 2018-03-04 |
List of references:
The natural history of MPS I: global perspectives from the MPS I Registry.
Michael Beck, Pamela Arn, Roberto Giugliani, Joseph Muenzer, Torayuki Okuyama, John Taylor, Shari Fallet,
Genetics in medicine : official journal of the American College of Medical Genetics - Oct 2014