| Disease ID | Source | Name | Description |
| 616083 | OMIM | Mental retardation, autosomal dominant 30 (MRD30) | A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD30 patients manifest mild intellectual disability and subtle facial dysmorphisms, including hypertelorism, ptosis, and a wide mouth. The disease is caused by variants affecting the gene represented in this entry. |