| Disease ID | Source | Name | Description |
| 616281 | OMIM | Mental retardation, autosomal recessive 49 (MRT49) | 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. MRT49 patients show a developmental encephalopathy characterized by rapid onset of failure to thrive and microcephaly, as well as profoundly delayed development. The disease is caused by variants affecting the gene represented in this entry. |