blepharophimosis, ptosis, and epicanthus inversus syndrome
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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
blepharophimosis, ptosis, and epicanthus inversus syndrome
- Blepharophimosis, ptosis, epicanthus inversus syndrome
OMIM mapping confirmed by DO. [SN].
disease_ontology
DOID:14778