Molecular characteristics

KBG syndrome is caused by changes (mutations) in or a deletion of the ANKRD11 gene on chromosome 16q24.3.

Most affected people are the first person in their family to carry the gene change, but a small proportion have inherited it from a parent, who is likely to have features of KBG syndrome.

The condition affects boys and girls, and there are both mildly and more severely affected individuals of both sexes.