Mondo Description Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene.

Uniprot Description A congenital cerebellar ataxia associated with cerebellar hypoplasia, mental retardation, and inability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. Additional findings include generalized brain atrophy and mild hypoplasia of the corpus callosum.