In a male patient with a syndromic form of mental retardation, a nonfunctional NXF5 was identified, which is split by the breakpoint situated in the 5' UTR between exons 1 and 2 of NXF5. This suggests that interruption of the gene NXF5 might result in the disease phenotypes associated with syndromic mental retardation including short stature, general muscle wasting, and facial dysmorphism by deranging the export or transport of specific mRNAs [43,44]. The gene discussed is NXF5; the disease is Intellectual disability.