WDR81 and congenital hydrocephalus: Furthermore, two new mutations of WDR81 (p.Gln1096* and p.Gly282Glu) have been reported in two independent families with congenital hydrocephalus and cerebellar malformation [20], and one new mutation (p.Arg1333*) was reported in a case with intellectual disability and sensorineural hearing loss [21].