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Prevalence (%) of clinical parameters based on data from 2 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 |
| Retinitis pigmentosa | nervous | 100 % | 2137962 | 2011-10-18 | |
| Basal ganglia pathology | nervous | 100 % | 20953793 | 2012-07-25 | |
| Neuropathy | nervous | 100 % | 20953793 | 2012-07-25 | |
| Cerebellar atrophy | nervous | 80 % | 20953793 | 2012-07-25 | |
| Cerebral atrophy | nervous | 80 % | 20953793 | 2012-07-25 | |
| Retinitis pigmentosa | nervous | 80 % | 20953793 | 2012-07-25 | |
| Muscle weakness | skeletal | 80 % | 20953793 | 2012-07-25 | |
| Ataxia | nervous | 75 % | 2137962 | 2011-10-05 | |
| Neuropathy | nervous | 75 % | 2137962 | 2011-10-05 | |
| Areflexia | nervous | 60 % | 20953793 | 2012-07-25 | |
| Dysmetria | nervous | 60 % | 20953793 | 2012-07-25 | |
| Babinski's sign | nervous | 50 % | 2137962 | 2011-11-16 | |
| Dysarthria | nervous | 40 % | 20953793 | 2012-07-25 | |
| Optic atrophy | nervous | 25 % | 2137962 | 2011-10-05 | |
| Short stature | skeletal | 25 % | 2137962 | 2011-10-05 | |
| Mental retardation | nervous | 25 % | 2137962 | 2011-10-05 | |
| Nystagmus | nervous | 20 % | 20953793 | 2012-07-25 | |
| Tremor | nervous | 20 % | 20953793 | 2012-07-25 |
List of references:
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