label: blepharophimosis-epicanthus inversus-ptosis due to copy number variations
label_lc: blepharophimosis-epicanthus inversus-ptosis due to copy number variations
description: "Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement."