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Prevalence (%) of clinical parameters based on data from 1 references describing 171 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 % | 28662915 | 2018-03-07 | |
| Ataxia | nervous | 92 % | 28662915 | 2018-03-07 | |
| Hypomyelination | nervous | 90 % | 28662915 | 2018-03-07 | |
| Hypotonia | nervous | 84 % | 28662915 | 2018-03-07 | |
| Spasticity | nervous | 33 % | 28662915 | 2018-03-07 | |
| Corpus callosum thining | nervous | 33 % | 28662915 | 2018-03-07 | |
| Seizures | nervous | 11 % | 28662915 | 2018-03-07 | |
| Cerebellar atrophy | nervous | 10 % | 28662915 | 2018-03-07 | |
| Coarse facial features | skeletal | 2 % | 28662915 | 2018-03-07 | |
| Failure to thrive | multi | 1 % | 28662915 | 2018-03-07 |
List of references:
A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.
Rebecca Barmherzig, Garrett Bullivant, Dawn Cordeiro, David S Sinasac, Susan Blaser, Saadet Mercimek-Mahmutoglu,
Pediatric neurology - Sep 2017