Recent advancements in human genetic approaches such as whole-exome sequencing in familial and consanguineous forms of congenital hydrocephalus have identified a limited number of genes related to the development of this disease in humans, including L1CAM (Rosenthal et al., 1992), MPDZ (Al-Dosari et al., 2013), CCDC88C (Ekici et al., 2010), EML1 (Shaheen et al., 2017), WDR81 (Shaheen et al., 2017), TRIM71 (Furey et al., 2018a), SMARCC1 (Furey et al., 2018a) and PTCH1 (Furey et al., 2018a). This evidence concerns the gene L1CAM and congenital hydrocephalus.