Term Name:	blepharophimosis, ptosis, and epicanthus inversus syndrome
Synonyms:	Blepharophimosis, ptosis, epicanthus inversus syndrome
Definition:	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 the FOXL2 gene on chromosome 3q22.3.
Ontology:	Human Disease [DOID:14778]   ( DOID:14778 )