| Disease ID | Source | Name | Description |
| 618050 | OMIM | Mental retardation, autosomal dominant 57 (MRD57) | A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD57 is characterized by delayed psychomotor development apparent in infancy or early childhood, and a variety of behavioral abnormalities. Affected individuals may have severe gastro-intestinal problems, and facial dysmorphism. MRD57 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. |