Disease ID | Source | Name | Description |
617773 | OMIM | Mental retardation, autosomal recessive 61 (MRT61) | 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. MRT61 patients manifest delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. Refractory seizures and brain abnormalities are present in severely affected patients. The disease is caused by variants affecting the gene represented in this entry. |