Human genes for blepharophimosis, ptosis, and epicanthus inversus syndrome
Blepharophimosis, ptosis, and epicanthus inversus syndrome [DOID:14778]
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, and epicanthus inversus syndrome, DOID:14778, and epicanthus inversus syndrome blepharophimosis, ptosis, blepharophimosis ptosis and epicanthus inversus syndrome, blepharophimosis, ptosis, and epicanthus inversus disease ...
Linkouts: OMIM