CIC haploinsufficiency syndrome is a neural developmental disorder caused by mutations in one of two copies in the CIC gene. Almost all identified individuals with CIC haploinsufficiency have developmental delay or intellectual disability. Other common features include autism, seizures, attention deficit hyperactivity disorder (ADHD), and heart problems.
Most patients with CIC haploinsufficiency syndrome have a new mutation that they did not inherit from their parents. As a result, the likelihood of having another child with CHS is relatively low, but a genetic counsellor should be consulted.