ITPR1 has been widely studied in the nervous system, and linked to human spinocerebellar ataxia 15 (MIM 606658), Gillespie syndrome (MIM 206700), and spinocerebellar ataxia 29 (MIM 117360) (van de Leemput et al., 2007; Das et al., 2017). Here, ITPR1 is linked to Aniridia - cerebellar ataxia - intellectual disability.