Home > D. Systemic pathology > Genetic and developmental anomalies > blepharophimosis, ptosis, and epicanthus inversus syndrome
blepharophimosis, ptosis, and epicanthus inversus syndrome
MIM.110100 3q23
Wednesday 18 June 2008
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), either with premature ovarian failure (BPES type 1) or without (BPES type 2), is caused by mutations in the FOXL2 gene (MIM.605597).