Disease

blepharophimosis, ptosis, and 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.

Synonyms

Blepharophimosis, ptosis, epicanthus inversus syndrome

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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