| Disease ID | Source | Name | Description |
| 612621 | OMIM | Mental retardation, autosomal dominant 5 (MRD5) | A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD5 patients show global developmental delay with delayed motor development, hypotonia, moderate-to-severe mental retardation, and severe language impairment. Epilepsy and autism can be present in some patients. The disease is caused by variants affecting the gene represented in this entry. |