Disease ID | Source | Name | Description |
300799 | OMIM | Intellectual developmental disorder, X-linked, syndromic, Raymond type (MRXSR) | A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Some MRXSR patients show additional features, including marfanoid habitus, epilepsy, facial dysmorphism, hypotonia, and behavioral problems. The disease is caused by variants affecting the gene represented in this entry. |