The variants identified included: a deep intronic pathogenic splicing variant in PQBP1 that leads to an out-of-frame pseudoexon and causes X-linked recessive Renpenning Syndrome (RENS1 [MIM: 309500]); a deep intronic pathogenic splicing variant in HNRNPK that resulting in intron retention that caused Au-Kline Syndrome (AUKS [MIM: 616580]); and an intronic pathogenic splicing variant in RPL13 that lead to intron retention and causes Spondyloepimetaphyseal Dysplasia (SEMD [MIM: 618728]). This evidence concerns the gene PQBP1 and spondyloepimetaphyseal dysplasia.