Homozygous, compound heterozygous and heterozygous mutations in ITPR1 could also cause Gillespie syndrome, which features a non-progressive cerebellar ataxia, aniridia, congenital hypotonia, and intellectual sub-normality (MIM #206700) [23, 24]. The gene discussed is ITPR1; the disease is Aniridia - cerebellar ataxia - intellectual disability.