Some intronic CNV deletions of CNTNAP2 gene have been reported in individuals with Pitt-Hopkins syndrome (PTHS) and cortical dysplasia–focal epilepsy syndrome (CDFES), epilepsy with auditory features (EAF), autism spectrum disorder (ASD) and intellectual disability (ID), speech impairment, Tourette syndrome (TS), and abnormal behavioral manifestations (5–9). Here, CNTNAP2 is linked to Timothy syndrome.