| Metadata | |
|---|---|
| ID | DOID:0080538 |
| Name | Sweeney-Cox syndrome |
| Definition | A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. https://www.ncbi.nlm.nih.gov/pubmed/28369379 |
| Xrefs | |
| Parent Relationships |
is_a syndrome |