Disease ID | Source | Name | Description |
615979 | OMIM | Mental retardation, autosomal recessive 45 (MRT45) | A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT45 manifestations include mild to moderate intellectual disability and dysmorphic features, including coarse facies, broad nasal bridge, fleshy nares, and thick, prominent lips. The disease is caused by variants affecting the gene represented in this entry. |