RIDDLE syndrome

 Contact us
 
Return to database




Prevalence (%) of clinical parameters based on data from 1 references describing 2 individuals







Add new symptom/sign to this disease

Select symptom from list or write it in the box
 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
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