Disease ID | Source | Name | Description |
613192 | OMIM | Mental retardation, autosomal recessive 13 (MRT13) | A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Brain magnetic resonance imaging of MRT13 patients indicates the presence of mild cerebral white matter hypoplasia. Microcephaly is present in some but not all affected individuals. The disease is caused by variants affecting the gene represented in this entry. |