Clinical Characteristics

IL1RAPL1 is associated with mild to severe ID (IQ<70) in male individuals. ID is often associated with autism spectrum disorders (ASD), hyperactivity, anxiety disorders, attentional problems, pervasive developmental disorders, facial dysmorphism and stereotypical behavior.

Carrier females were found to be of normal intelligence and without physical abnormalities. Other carrier women, especially those with an underlying cytogenetic aberration, presented with learning difficulties or a mild form of ID or ASD.