These include Gillespie syndrome (34), spinocerebellar ataxia type 15 (35) and type 29 (36) for ITPR1; generalized, isolated anhidrosis for ITPR2 (hence without other ectodermal manifestations, e.g., hair and teeth) (37); and autosomal dominant demyelinating Charcot-Marie-Tooth disease type 1J for ITPR3 (38). Here, ITPR3 is linked to aniridia-cerebellar ataxia-intellectual disability syndrome.