List of Mutations
Here you will find a summary of the alterations of SATB2 previously reported in the medical literature and in public databases. See What Causes the Syndrome and Understanding Genetic Testing Results below
A compilation of most of the latest reported and better described cases with deletions and duplications of SATB2 can be downloaded below.
A compilation of over 40 different mutations in SATB2 can be downloaded below (Public databases and previously published cases).