Stocco dos Santos X-linked mental retardation syndrome

Home » Classic Medicine » Syndromes » Stocco dos Santos X-linked mental retardation syndrome
Stocco dos Santos X-linked mental retardation syndrome2016-11-28T06:22:36+00:00

Stocco dos Santos X-linked mental retardation syndrome

NEUROLOGY

Definition A disorder (OMIM:300434) characterised by severe mental retardation with hyperactivity, aggressive behaviour, delayed or no speech, and seizures, variably accompanied by congenital bilateral hip luxation, short stature, and kyphosis.

Molecular pathology Defects of SHROOM4, which encodes a protein thought to play a role in cytoskeletal architecture, cause Stocco dos Santos X-linked mental retardation syndrome. 

Synonym Mental retardation—X-linked—syndromic—Stocco dos Santos type

References http://www.uniprot.org/uniprot/Q9ULL8

http://www.omim.org/entry/300434

Leave A Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.