Treacher Collins syndrome 4 (DOID:0080792)
Alliance: disease page
Alt IDs: OMIM:618939
Definition: A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14.