| Disease ID | Source | Name | Description |
| 617927 | OMIM | Orofaciodigital syndrome 18 (OFD18) | 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. OFD18 is an autosomal recessive form characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features. The disease is caused by variants affecting the gene represented in this entry. |