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Prevalence (%) of clinical parameters based on data from 1 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 |
| Ataxia | nervous | 100 % | 15574463 | 2015-09-18 | |
| Radiosensitivity | multi | 100 % | 15574463 | 2015-09-18 | |
| Oculomotor apraxia | nervous | 90 % | 15574463 | 2015-09-18 | |
| Cerebellar atrophy | nervous | 70 % | 15574463 | 2015-09-18 | |
| Areflexia | nervous | 60 % | 15574463 | 2015-09-18 | |
| Facial dyskinesia | nervous | 40 % | 15574463 | 2015-09-18 | |
| Masklike face | nervous | 40 % | 15574463 | 2015-09-18 | |
| Microcephaly | nervous | 40 % | 15574463 | 2015-09-18 | |
| Hyperactive reflexes | nervous | 33 % | 15574463 | 2015-09-18 |
List of references:
Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder.
Marie Fernet, Moez Gribaa, Mustafa A M Salih, Mohamed Zein Seidahmed, Janet Hall, Michel Koenig,
Human molecular genetics - Jan 2005