Cockayne Syndrome B (CSB)

Cockayne Syndrome B, also known as cockayne syndrome type 2, is related to cockayne syndrome type 3 and cerebrooculofacioskeletal syndrome 1, and has symptoms including ataxia, seizures and tremor. An important gene associated with Cockayne Syndrome B is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways/superpathways are Homology Directed Repair and Regulation of TP53 Activity. Affiliated tissues include skin and eye, and related phenotypes are intellectual disability and abnormal facial shape