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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01916 | Stocco dos Santos X-linked mental retardation syndrome | ... hyperactivity and seizures. Clinical features include congenital bilateral hip luxation, short stature, and kyphosis. Mutations in the SHROOM4 gene, implicated in neural development, cause this disease. | Congenital malformation | SHROOM4 [HSA:57477] [KO:K18625] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |