Individuals with variants in RFX4have demonstrated developmental and behavioural challenges that include global delays in development in childhood, intellectual disability, autism spectrum disorder, and behaviour difficulties. RFX4 variants usually are “de novo” which is a term that is used to describe changes that are “new” in that they are not passed down from others in the family. There has been one report of a parents who both had one genetic variant and passed down their variant to the children. Having the one variant did not seem to affect the parents, but when the children got both of the variants (one from mother, one from father), then they were affected by the symptoms described.
RFX4