A role of CTBP1 in human neurodevelopment was revealed with the discovery of a recurrent de novo missense mutation in CTBP1 (c.991C → T, p.R331W in NM_001012614.1; p.R342W c.1024 C → T in NM_001328.2) in patients with neurodevelopmental features including intellectual disability, ataxia, hypotonia, as well as tooth enamel defects (Beck et al., 2016, 2019; Sommerville et al., 2017). Here, CTBP1 is linked to Intellectual disability.