Stocco dos Santos X-linked mental retardation syndrome

Definition:

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.

References:

[1]. Michael Yoder, et al. Shroom4 (Kiaa1202) is an actin-associated protein implicated in cytoskeletal organization. Cell Motil Cytoskeleton. 2007 Jan;64(1):49-63. [Content Brief]

[2]. Olivier Hagens, et al. Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Hum Genet. 2006 Jan;118(5):578-90. [Content Brief]

[3]. Rita C Stocco dos Santos, et al. Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3. Am J Med Genet A. 2003 Apr 30;118A(3):255-9. [Content Brief]

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