| 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 autosomal dominant disease is_a syndrome  | 
                         
| Subclass Logical Relationships | 
                            
	                             has material basis in some autosomal dominant inheritance  |