These variants cause PRKG2‐related acromesomelic dysplasia (acromesomelic dysplasia 4, AMD4, MIM 619636) and PRKG2‐related spondylometaphyseal dysplasia (Pagnamenta type (SMDP, MIM 619638) [29]. This evidence concerns the gene PRKG2 and spondylometaphyseal dysplasia.