Nijmegen Breakage Syndrome-Like Disorder (NBSLD)

Nijmegen Breakage Syndrome-Like Disorder, also known as nbs-like disorder, is related to ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia and ataxia-telangiectasia. An important gene associated with Nijmegen Breakage Syndrome-Like Disorder is RAD50 (RAD50 Double Strand Break Repair Protein), and among its related pathways/superpathways are Homology Directed Repair and Packaging Of Telomere Ends. Affiliated tissues include breast and bone marrow, and related phenotypes are intellectual disability and spasticity