autosomal genetic disease blepharophimosis, ptosis, and epicanthus inversus syndrome Blepharophimosis, ptosis, epicanthus inversus syndrome SNOMEDCT_US_2020_03_01:79833006 OMIM mapping confirmed by DO. [SN]. UMLS_CUI:C0220663 DOID:14778 MESH:C562419 OMIM:110100 A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in FOXL2 on chromosome 3q22.3. disease_ontology syndrome