Disease ID | Source | Name | Description |
300986 | OMIM | Mental retardation, X-linked, syndromic, Bain type (MRXSB) | 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. MRXSB patients manifest developmental delay, intellectual disability, autism, hypotonia, seizures, and dysmorphic facial features. Only females are affected. The disease is caused by variants affecting the gene represented in this entry. |