By contrast, activity of the <i>PGAP3</i> variant was similar to wild-type.<h4>Conclusions</h4>For this patient with Mabry syndrome, the phenotype is likely to be predominantly HPMRS3: resulting from autosomal recessive inheritance of NM_001256240.2 <i>PGAP2</i> c:284A>G, p.Tyr95Cys. The gene discussed is PGAP2; the disease is hyperphosphatasia-intellectual disability syndrome.