1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0060353 | acrofacial dysostosis Cincinnati type | An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0060379 | acrofacial dysostosis | A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene. |
