| Disease ID | Source | Name | Description |
| 615599 | OMIM | Mental retardation, autosomal recessive 40 (MRT40) | A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT40 affected individuals also show microcephaly, spasticity, thin corpus callosum, pyramidal signs. The disease is caused by variants affecting the gene represented in this entry. |