Stocco dos Santos X-linked mental retardation syndrome

Stocco dos Santos X-linked mental retardation syndrome

A syndrome characterised by severe mental retardation with hyperactivity, aggressive behaviour, delayed or no speech, seizures, congenital bilateral hip luxation, short stature, and kyphosis.

Molecular pathology
Defects of SHROOM4, a gene which encodes a protein thought to regulate cellular and cytoskeletal architecture, cause Stocco dos Santos X-linked mental retardation.
Mentioned in ?