Term Name: Treacher Collins syndrome 4
Synonyms:
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.
Ontology: Human Disease [DOID:0080792]   ( DOID:0080792 )

Relationships
is a type of: Treacher Collins syndrome