RIDDLE syndrome

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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




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 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%)
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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