Blepharophimosis

Blepharophimosis is related to blepharophimosis, ptosis, and epicanthus inversus and blepharophimosis-intellectual disability syndrome, and has symptoms including lid retraction or lag and observation of narrowing of palpebral fissure. An important gene associated with Blepharophimosis is ARID1B (AT-Rich Interaction Domain 1B), and among its related pathways/superpathways is Initial triggering of complement. Affiliated tissues include skin and ovary, and related phenotypes are growth/size/body region and homeostasis/metabolism