In FIN23-3, a candidate de novo variant [p.(Lys181Glu)] in 1,4,5-triphosphate receptor, type 2 (ITRP2) was identified in the sample from the patient, who has a phenotype resembling Gillespie syndrome caused by both AD and AR variants in ITPR1 (OMIM # 147265). Here, ITPR1 is linked to aniridia-cerebellar ataxia-intellectual disability syndrome.