One of the main clinical features is developmental delay, which leads to intellectual disability. Affected children often experience difficulties learning to walk independently and to develop speech. Behavioural abnormalities, including autistic features, may also be present. In the neonatal period, cardiopulmonary complications, such as respiratory distress can be life-threatening. Additionally, internal organ malformations, such as congenital heart defects, may also occur. As a result, multidisciplinary care and comprehensive support are strongly recommended.
FBRSL1