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Prevalence (%) of clinical parameters based on data from 2 references describing 32 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 |
| Areflexia | nervous | 100 % | 15300460 | 2011-10-19 | |
| Pes cavus | skeletal | 94 % | 15300460 | 2011-10-11 | |
| Dysarthria | nervous | 88 % | 15300460 | 2011-10-11 | |
| Babinski's sign | nervous | 86 % | 15300460 | 2011-10-11 | |
| Ataxia | nervous | 75 % | 15300460 | 2011-10-11 | |
| Head titubation | nervous | 73 % | 15953402 | 2011-10-11 | |
| Visual impairment | nervous | 73 % | 15953402 | 2011-10-11 | |
| Scoliosis | skeletal | 69 % | 15300460 | 2011-10-11 | |
| Cerebellar atrophy | nervous | 45 % | 15300460 | 2011-10-11 | |
| Tremor | nervous | 44 % | 15300460 | 2011-10-11 | |
| Cardiomyopathy | circulatory | 31 % | 15953402 | 2011-10-11 | |
| Retinitis pigmentosa | nervous | 27 % | 15953402 | 2011-10-11 | |
| Retinitis pigmentosa | nervous | 13 % | 15300460 | 2011-10-11 | |
| Cardiomyopathy | circulatory | 7 % | 15300460 | 2011-10-11 |
List of references:
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.
C Mariotti, C Gellera, M Rimoldi, R Mineri, G Uziel, G Zorzi, D Pareyson, G Piccolo, D Gambi, S Piacentini, F Squitieri, R Capra, B Castellotti, S Di Donato,
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - Jul 2004
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