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Prevalence (%) of clinical parameters based on data from 1 references describing 2 individuals
100 Cellular radiosensitivity 100 Immune deficiency 100 Short stature 50 Ataxia 50 Bronchiectasis 50 Facial dysmorphism 50 Increased blood AFP 50 Low serum IgA 50 Mental retardation 50 Microcephaly 50 Pulmonary fibrosis 50 Respiratory failure 50 Telangiectasia 50 Xerosis
Add new symptom/sign to this disease
List of symptoms
Symptom/sign |
Organ system |
Percent affected |
Pubmed id |
Added on(yyyy-mm-dd) |
Edit/add reference |
Short stature |
skeletal |
100 % |
21394101 |
2016-08-19 |
|
Cellular radiosensitivity |
multi |
100 % |
21394101 |
2016-08-19 |
|
Immune deficiency |
lymphatic |
100 % |
21394101 |
2016-08-19 |
|
Telangiectasia |
circulatory |
50 % |
21394101 |
2016-08-19 |
|
Ataxia |
nervous |
50 % |
21394101 |
2016-08-19 |
|
Mental retardation |
nervous |
50 % |
21394101 |
2016-08-19 |
|
Facial dysmorphism |
skeletal |
50 % |
21394101 |
2016-08-19 |
|
Microcephaly |
nervous |
50 % |
21394101 |
2016-08-19 |
|
Low serum IgA |
lymphatic |
50 % |
21394101 |
2016-08-19 |
|
Increased blood AFP |
circulatory |
50 % |
21394101 |
2016-08-19 |
|
Xerosis |
integumentary |
50 % |
21394101 |
2016-08-19 |
|
Pulmonary fibrosis |
respiratory |
50 % |
21394101 |
2016-08-19 |
|
Bronchiectasis |
respiratory |
50 % |
21394101 |
2016-08-19 |
|
Respiratory failure |
respiratory |
50 % |
21394101 |
2016-08-19 |
|
List of references:
Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia. S S Devgan, O Sanal, C Doil, K Nakamura, S A Nahas, K Pettijohn, J Bartek, C Lukas, J Lukas, R A Gatti,
Cell death and differentiation - Sep 2011
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