Clinical features
Mutations in the WDR81 gene may cause one of two disorders: Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 or Congenital Hydrocephalus 3. The latter is more severe and has an earlier onset.

The prevalence of WDR81-related conditions cannot be accurately estimated due to the limited number of cases reported.

Mutations of this gene can be passed on to the next generation in an autosomal recessive manner. This means that if both parents carry a mutation involving this gene (usually without displaying the disease), there is a greater chance that their children are going to inherit the mutations from both parents and display the disease. This is especially important to consider in consanguineous marriage, where the chance of both parents having the same mutation and passing it is greater.