The clinical presentations of mutations in the various anoctamin genes are very heterogeneous, and include limb-girdle muscular dystrophy (ANO5), skeletal abnormalities (Gnathodiaphyseal dysplasia due to ANO5 mutations), blood cell disorders (Scott syndrome caused by ANO6 defects), as well as progressive neurological presentations of autosomal dominant dystonia (DYT24 due to ANO3 mutations) and cerebellar ataxia and atrophy (ANO10 defects) [10]. Here, ANO5 is linked to gnathodiaphyseal dysplasia.