Clinical features
Autosomal recessive mutations in the WDR81 can lead to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 or Congenital Hydrocephalus 3 associated with brain anomalies. The latter more severe phenotype is usually associated with severe loss of function mutations.
Prevalence
The prevalence of WDR81-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
WDR81-related disorders are inherited in an autosomal recessive manner.