| Disease ID | Source | Name | Description |
| 182290 | OMIM | Smith-Magenis syndrome (SMS) | Characterized by congenital mental retardation associated with development and growth delays. Affected persons have characteristic behavioral abnormalities, including self-injurious behaviors and sleep disturbance, and distinct craniofacial and skeletal anomalies. The disease is caused by variants affecting the gene represented in this entry. |