Stocco Dos Santos type X-linked intellectual disability

A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the SHROOM

A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the SHROOM4 gene on chromosome Xp11.22.

Signs and symptoms

• Epicanthus
• Bruxism
• Microcephaly
• Strabismus
• Talipes equinovarus
• Short foot
• Scoliosis
• Absent speech
• Short stature
• Profound intellectual disability

Also known as: SDSX; Stocco dos Santos X-linked mental retardation syndrome