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.
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
タイトル
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
