The hydrocephalus phenotype is correlated with the deletion of PIH1D3 from the epithelial cells of ependyma and choroid plexus in the KO rats, although hydrocephalus was not reported in patients carrying a pathogenic mutation in PIH1D3 (Olcese et al., 2017; Paff et al., 2017; Paff et al., 2018; Aprea et al., 2021; Lennon et al., 2022). Here, DNAAF6 is linked to Hydrocephalus.