In humans, heterozygous CNVs in the 5’-noncoding part of the RBFOX1 gene that typically only affect some but not all RBFOX1 transcript isoforms are associated with a range of neurodevelopmental disorders (Bhalla et al., 2004; Martin et al., 2007; Zhao, 2013). Here, RBFOX1 is linked to neurodevelopmental disorder.