| Disease ID | Source | Name | Description |
| 615948 | OMIM | Orofaciodigital syndrome 14 (OFD14) | 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. OFD14 patients show severe microcephaly, cerebral malformations the molar tooth sign, and intellectual disability in addition to canonical OFDS features. The disease is caused by variants affecting the gene represented in this entry. |