| H01916 | |
| H number | H01916 |
| Name | Stocco dos Santos X-linked mental retardation syndrome |
| Description | Stocco dos Santos X-linked mental retardation syndrome is characterized by severe intellectual disability with 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | SHROOM4 [HSA:57477] [KO:K18625] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD90.Y ICD-10: Q87.8 MeSH: C537495 OMIM: 300434 |
| Reference | PMID:12673656 AUTHORS Stocco dos Santos RC, Castro NH, Lillia Holmes A, Becak W, Tackels-Horne D, Lindsey CJ, Lubs HA, Stevenson RE, Schwartz CE TITLE Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3. JOURNAL Am J Med Genet A 118A:255-9 (2003) DOI:10.1002/ajmg.a.20021 PMID:16249884 AUTHORS Hagens O, Dubos A, Abidi F, Barbi G, Van Zutven L, Hoeltzenbein M, Tommerup N, Moraine C, Fryns JP, Chelly J, van Bokhoven H, Gecz J, Dollfus H, Ropers HH, Schwartz CE, de Cassia Stocco Dos Santos R, Kalscheuer V, Hanauer A TITLE Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. JOURNAL Hum Genet 118:578-90 (2006) DOI:10.1007/s00439-005-0072-2 PMID:17009331 AUTHORS Yoder M, Hildebrand JD TITLE Shroom4 (Kiaa1202) is an actin-associated protein implicated in cytoskeletal organization. JOURNAL Cell Motil Cytoskeleton 64:49-63 (2007) DOI:10.1002/cm.20167 |