| Metadata | |
|---|---|
| ID | DOID:0080792 |
| Name | Treacher Collins syndrome 4 |
| 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. https://pubmed.ncbi.nlm.nih.gov/31649276/ |
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