In addition to Brachyolmia, earlier mutations of PAPSS2 have also been reported in patients suffering from spondyloepimetaphyseal dysplasia (SEMD) Pakistani type, which was later on reclassified as Brachyolmia type 4. This evidence concerns the gene PAPSS2 and spondyloepimetaphyseal dysplasia, matrilin-3 type.