| Disease ID | Source | Name | Description |
| 616887 | OMIM | Mental retardation, autosomal recessive 52 (MRT52) | 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. MRT52 clinical features include global developmental delay, severe intellectual disability with poor speech, and mild seizures in early childhood. The disease is caused by variants affecting the gene represented in this entry. |