Aside from the characterization of neuroimaging pattern, the analysis of Group B patients highlights the importance of recognizing superior cerebellar atrophy as a diagnostic clue for ITPR1-related disorders, since four out of five subjects presenting this peculiar imaging trait, retrospectively selected from two large imaging databases, tested positive for pathogenic variants in the ITPR1 gene. Here, ITPR1 is linked to Cerebellar atrophy.