In humans, loss of expression of CDKN1C has been linked to the childhood overgrowth disorder Beckwith Weidemann Syndrome while microduplications spanning the gene and alterations in the PCNA domain of CDKN1C have been linked to the growth restriction disorders Silver-Russell syndrome (SRS) and IMAGe syndrome, respectively [41]. Here, CDKN1C is linked to IMAGe syndrome.