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]. Here, ITPR1 is linked to aniridia-cerebellar ataxia-intellectual disability syndrome.