The first manifestations of the syndrome are delays in the development of affected children (both motor and language delay). Low speech abilities are especially frequent.
As patients grow older, they present variable degrees of intellectual disability and frequent behavioural disturbances such as autism, repetitive movements, isolation, and hyperactivity. The oldest patients known as of today are in their late thirties, and most of them present with mild or moderate forms of intellectual disability without any life-threatening issues. However, the full range of adult phenotypes is possibly not yet known.
Other manifestations include decreased muscle tone, deficit in movement coordination, small stature or head , and epileptic seizures.
More occasionally, eye problems and skeletal malformations may be part of the syndrome.
SOX5