<b>Highlights</b> - Stormorken syndrome is a rare autosomal dominant disease.- Stormoken syndrome is caused by autosomal dominant mutations in the <i>STIM1</i> gene.- We present the features of a 21-year-old Italian female with Stormorken syndrome.- Our review of published <i>STIM1</i> mutations suggests a genotype-phenotype correlation.- The p.R304W mutation should be investigated in the presence of a typical phenotype. This evidence concerns the gene STIM1 and Stormorken-Sjaastad-Langslet syndrome.