GS was performed, and two findings associated with submitted clinical manifestations were identified: a pathogenic 600.5 kb contiguous deletion of Xp11.4, including the SRPX, RPGR, OTC, TSPAN7, and MID1IP1 genes, associated with severe ornithine transcarbamylase (OTC) deficiency in males [21, 22] and a likely pathogenic variant in RORB [NM_006914.4:c.286G>T p.(Glu96Ter)], associated with pediatric-onset idiopathic generalized and absence epilepsy. Here, TSPAN7 is linked to ornithine carbamoyltransferase deficiency.