Blepharophimosis-epicanthus inversus-ptosis due to copy number variations

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.

Also known as: blepharophimosis types 1 and 2 due to copy number variations, blepharophimosis-epicanthus inversus-ptosis due to a CNV

4 clinical trials for this condition and its sub-types.