Disease ID | Source | Name | Description |
300534 | OMIM | Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) | A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSCJ patients manifest mental retardation associated with variable features such as slowly progressive spastic paraplegia, seizures, facial dysmorphism. The disease is caused by variants affecting the gene represented in this entry. |