| Disease ID | Source | Name | Description |
| 615873 | OMIM | Helsmoortel-van der Aa syndrome (HVDAS) | A disorder characterized by intellectual disability, autism spectrum disorder, and dysmorphic facial features including prominent forehead, high hairline, downslanting palpebral fissures, notched eyelids, broad nasal bridge, thin upper lip, and smooth philtrum. The disease is caused by variants affecting the gene represented in this entry. |