One was homozygous for the c.2122 + 15447_2197-59588del; p.Gln708Profs*16 variant and the other was homozygous for the c.401T > G; p.Leu134* variant in EXOC6B. The patient carrying the p.Leu134* variant also had developmental delay, intellectual disability, and brain abnormalities, which had never been reported in SEMDJL. Here, EXOC6B is linked to Intellectual disability.