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 Developmental disorder; Mental retardation