Disease ID | Source | Name | Description |
300434 | OMIM | Mental retardation, X-linked, syndromic, Stocco dos Santos type (SDSX) | A syndrome characterized by severe mental retardation with hyperactivity, aggressive behavior, delayed or no speech, and seizures. Additional features include congenital bilateral hip luxation, short stature, and kyphosis. The disease is caused by variants affecting the gene represented in this entry. |