| Disease ID | Source | Name | Description |
| 610536 | OMIM | Mandibulofacial dysostosis with microcephaly (MFDM) | A rare syndrome characterized by progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate. The disease is caused by variants affecting the gene represented in this entry. |