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.
MONDO:0007201
blepharophimosis, ptosis, and epicanthus inversus syndrome
is_a
blepharophimosis types 1 and 2 due to copy number variations
exact
blepharophimosis-epicanthus inversus-ptosis due to a CNV
exact