Whole exome sequencing revealed a heterozygous pathogenic variant in exon 15 of the regulatory subunit of phosphoinositide 3-kinase 1 (<i>PIK3R1</i>) gene, leading to a genetic diagnosis of SHORT syndrome (short stature, joint hyperextensibility, ocular depression, rieger anomaly, and teething delay). Here, PIK3R1 is linked to SHORT syndrome.