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Prevalence (%) of clinical parameters based on data from 3 references describing 177 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 |
| Ataxia | nervous | 100 % | 1377828 | 2011-10-22 | |
| Dysarthria | nervous | 100 % | 1377828 | 2011-10-22 | |
| Oculomotor apraxia | nervous | 100 % | 1377828 | 2012-01-24 | |
| Cerebellar atrophy | nervous | 100 % | 22017321 | 2012-01-24 | |
| Demyelination | nervous | 100 % | 22017321 | 2012-01-24 | |
| Radiosensitivity | integumentary | 100 % | 1256588 | 2015-09-20 | |
| Telangiectasia | integumentary | 97 % | 1377828 | 2011-10-22 | |
| Chorea | nervous | 94 % | 1377828 | 2012-01-24 | |
| Increased blood AFP | circulatory | 90 % | 1377828 | 2012-01-24 | |
| Athetosis | nervous | 81 % | 1377828 | 2012-01-24 | |
| Areflexia | nervous | 79 % | 1377828 | 2011-10-22 | |
| Dystonia | nervous | 79 % | 1377828 | 2012-01-24 | |
| Weight loss | multi | 77 % | 1377828 | 2012-01-24 | |
| Neuropathy | nervous | 71 % | 1377828 | 2012-01-24 | |
| Short stature | nervous | 65 % | 1377828 | 2011-10-22 | |
| Immune deficiency | lymphatic | 61 % | 1377828 | 2011-10-22 | |
| Nystagmus | nervous | 59 % | 1377828 | 2011-10-22 | |
| Strabismus | nervous | 25 % | 1377828 | 2011-10-22 | |
| Cancer | lymphatic | 7 % | 1377828 | 2012-01-24 |
List of references:
Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals.
C G Woods, A M Taylor,
The Quarterly journal of medicine - Feb 1992
Neuropathology in classical and variant ataxia-telangiectasia.
Mijke M M Verhagen, Jean-Jacques Martin, Marcel van Deuren, Chantal Ceuterick-de Groote, Corry M R Weemaes, Berry H P H Kremer, Malcolm A R Taylor, Michèl A A P Willemsen, Martin Lammens,
Neuropathology : official journal of the Japanese Society of Neuropathology - Jun 2012
Defective excision repair of gamma-ray-damaged DNA in human (ataxia telangiectasia) fibroblasts.
M C Paterson, B P Smith, P H Lohman, A K Anderson, L Fishman,
Nature - Apr 1976