Additionally, homozygous/compound heterozygous truncating mutations and heterozygous deletions and missense mutations in ITPR1 have been associated with Gillespie syndrome (MIM 206700), a disorder characterized by hypotonia, progressive hypoplasia, ataxia, and variable cognitive impairment with onset occurring within the first year of life [61]. The gene discussed is ITPR1; the disease is Aniridia - cerebellar ataxia - intellectual disability.