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Prevalence (%) of clinical parameters based on data from 1 references describing 10 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 |
| Developmental delay | nervous | 100 % | 16434659 | 2014-02-06 | |
| Failure to thrive | multi | 100 % | 16434659 | 2014-02-06 | |
| Irritability | nervous | 100 % | 16434659 | 2014-02-06 | |
| Weight loss | multi | 100 % | 16434659 | 2014-02-06 | |
| Hypotonia | nervous | 100 % | 16434659 | 2014-02-06 | |
| Areflexia | nervous | 100 % | 16434659 | 2014-02-06 | |
| Retinal cherry red spot | nervous | 100 % | 16434659 | 2014-02-06 | |
| Thrombocytopenia | circulatory | 100 % | 16434659 | 2014-02-06 | |
| Hypercholesterolemia | circulatory | 100 % | 16434659 | 2014-02-06 | |
| Hypertriglyceridemia | circulatory | 100 % | 16434659 | 2014-02-06 | |
| Increased blood transaminase | digestive | 100 % | 16434659 | 2014-02-06 | |
| Vomiting | digestive | 80 % | 16434659 | 2014-02-06 | |
| Macrocephaly | nervous | 20 % | 16434659 | 2014-02-06 | |
| Nystagmus | nervous | 20 % | 16434659 | 2014-02-06 |
List of references:
Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials.
M M McGovern, A Aron, S E Brodie, R J Desnick, M P Wasserstein,
Neurology - Jan 2006