Term Name: | Treacher Collins syndrome 4 |
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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 ) |