Term Name: Sweeney-Cox syndrome
Synonyms:
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.
Ontology: Human Disease [DOID:0080538]   ( DOID:0080538 )

Relationships
is a type of: autosomal dominant disease syndrome