PhenomeGene — Human Disease Gene Website SeriesRFX3

Families

Individuals with variants in RFX3have demonstrated developmental and behavioural challenges that include global delays in development in childhood, intellectual disability, autism spectrum disorder, and sleep and behaviour difficulties. RFX3variants 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 mother who passed down the genetic change to 3 children.