Homozygous missense mutations in WDR81 cause cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 (OMIM 610185) in humans (Gulsuner et al., 2011), with some patients exhibiting coarse facial features and strabismus (Garcias and Roth, 2007), pointing to a critical role for this gene product in craniofacial development. Here, WDR81 is linked to aceruloplasminemia.