Dlg5 knockout mice have both hydrocephalus and cystic kidneys with a loss of cilia in both tissues.22 Another report has indicated that DLG5 is located at the base of cilia and regulates Shh signalling.19 Some DLG5 variant probands presented with a constellation of phenotypes that are consistent with ciliopathies. Here, SHH is linked to Hydrocephalus.