| Disease ID | Source | Name | Description |
| 617188 | OMIM | Mental retardation, autosomal recessive 57 (MRT57) | 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. MRT57 patients have moderate to severe intellectual disability, and delayed psychomotor development with poor or absent speech. Some patients manifest seizures and autistic features. The disease is caused by variants affecting the gene represented in this entry. |