Disease ID | Source | Name | Description |
301008 | OMIM | Mental retardation, X-linked, syndromic, Houge type (MRXSHG) | 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. MRXSHG is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. Carrier females may be mildly affected. The disease is caused by variants affecting the gene represented in this entry. |