| Metadata | |
|---|---|
| ID | DOID:14778 |
| Name | 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. https://www.ncbi.nlm.nih.gov/pubmed/11175783 |
| Xrefs |
SNOMEDCT_US_2023_03_01:79833006 |
| Synonyms |
Blepharophimosis, ptosis, epicanthus inversus syndrome [RELATED] |
| Parent Relationships |
is_a syndrome |