Riddle Syndrome (RIDL)

Riddle Syndrome, also known as radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome, is related to ataxia-telangiectasia and legionnaire disease, and has symptoms including ataxia and dry skin. An important gene associated with Riddle Syndrome is RNF168 (Ring Finger Protein 168), and among its related pathways/superpathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Infectious disease. Affiliated tissues include skin and eye, and related phenotypes are short stature and immunodeficiency