Neurofibromatosis, type 1 |
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Prevalence (%) of clinical parameters based on data from 2 references describing 1,497 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 |
| Cafe-au-lait spots | integumentary | 91 % | 9128932 | 2011-10-19 | |
| Intertriginous freckling | integumentary | 86 % | 9128932 | 2011-10-12 | |
| Lisch nodules | nervous | 57 % | 9128932 | 2011-10-12 | |
| Neurofibromas | integumentary | 54 % | 9128932 | 2011-10-12 | |
| Macrocephaly | nervous | 39 % | 11337320 | 2011-10-12 | |
| Scoliosis | skeletal | 26 % | 9128932 | 2011-10-12 | |
| Dysplastic sphenoid wing | skeletal | 11 % | 9128932 | 2011-10-12 | |
| Seizures | nervous | 6 % | 9128932 | 2011-10-12 |
List of references:
Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients.
J M Friedman, P H Birch,
American journal of medical genetics - May 1997
Prospective evaluation of the brain in asymptomatic children with neurofibromatosis type 1: relationship of macrocephaly to T1 relaxation changes and structural brain abnormalities.
R G Steen, J S Taylor, J W Langston, J O Glass, V R Brewer, W E Reddick, R Mages, E K Pivnick,
AJNR. American journal of neuroradiology - May 2001