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blepharophimosis, ptosis, and epicanthus inversus syndrome
Summary
- 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.
- Super Class
- autosomal genetic disease syndrome
External Links
- Disease Ontology
- DOID:14778
- Mondo Disease Ontology
- MeSH
- UMLS
- OMIM
- MGI genotype (from TogoID)
