Disease ID | Source | Name | Description |
615942 | OMIM | Mental retardation, autosomal recessive 44 (MRT44) | A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT44 manifestations include mild to severe cognitive impairment, delayed psychomotor development, seizures in some patients, and dysmorphic features. The disease is caused by variants affecting the gene represented in this entry. |