Heterozygous <i>FOXL2</i> (non)coding sequence and structural variants (SVs) lead to blepharophimosis, ptosis and epicanthus inversus syndrome (BPES), a rare, autosomal dominant developmental disorder characterized by a completely penetrant eyelid malformation and incompletely penetrant primary ovarian insufficiency (POI). The gene discussed is FOXL2; the disease is blepharophimosis, ptosis, and epicanthus inversus syndrome.