CC2D1A

Parents

Hundreds of genes have mutation in non-syndromic ID (NSID) and ASD. These disorders have been suggested to be caused by mutations in approximately ≥ 10% of autosomal genes. Additionally, recently, thousands of different SNP have been reported in ASD patients. Several factors contribute to the heterogeneity of ASD, with high rates of psychiatric disorders (such as attention deficit hyperactivity and anxiety), neurological disorders (such as seizures, sensory and motor), and comorbid medical problems (e.g., sleep, gastrointestinal, immune system disorders). There are currently no pharmacologic agents to treat the main symptoms of ASD.

Both sexes have been affected by the de novo or inherited (probably autosomal recessive) mutations associated to date.