| Disease ID | Source | Name | Description |
| 174300 | OMIM | Orofaciodigital syndrome 5 (OFD5) | A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD5 patients show the core features of cleft palate, lobulated tongue, and polydactyly. Additional features include frontal bossing and intellectual disability. The disease is caused by variants affecting the gene represented in this entry. |