This condition is caused by pathogenic variants in the NEXMIF gene through X-linked dominant inheritance.<h4>Case presentation</h4>We identified a novel hemizygous NEXMIF variant (c.1939_1942delinsAT, p.S647Ifs*3) in a 5-year-old male with severe intellectual disability via trio whole-exome sequencing. This evidence concerns the gene NEXMIF and Intellectual disability.