TABLE 1.

Overview of phenotypes observed in individuals with CNVs in CHL1, CNTN6, and CNTN4.

CNV in Gene	Phenotypes Observed	References
CHL1	Autism spectrum disorder	Angeloni et al., 1999; Pohjola et al., 2010; Cuoco et al., 2011; Shoukier et al., 2013; Tassano et al., 2014; Li et al., 2016; Bitar et al., 2019
	Epilepsy
	Intellectual disability
	Cognitive impairments and learning disabilities
	Speech delay and language difficulties
CNTN6	Autism spectrum disorder	Kashevarova et al., 2014; Noor et al., 2014; Hu et al., 2015; Li et al., 2016; Mercati et al., 2017; Juan-Perez et al., 2018; Tassano et al., 2018; Repnikova et al., 2020
	Epilepsy
	Schizophrenia
	Bipolar disorder
	Intellectual disability
CNTN4	Autism spectrum disorder Speech delay and language difficulties Seizures	Fernandez et al., 2004; Fernandez T. et al., 2008; Fernandez T. V. et al., 2008; Dijkhuizen et al., 2006; Glessner et al., 2009; Roohi et al., 2009; Pinto et al., 2010; Cottrell et al., 2011; Poultney et al., 2013; Zhang et al., 2020

Further details on the coordinates and size of these CNVs, their de novo or inherited status and a more specific breakdown of behavior and developmental phenotypes can be found in Supplementary Table 1.