The 9q33.1 deletion was initially reported as a likely benign variant but later reclassified by the genetic testing company as a copy number change of uncertain significance in light of a publication reporting enrichment of deletions involving TRIM32 and ASTN2 in males with neurodevelopmental disorders including ASD, ADHD and anxiety (Lionel et al., 2014). The gene discussed is ASTN2; the disease is neurodevelopmental disorder.