Loss of function variants in RFX4result in a neurobehavioral phenotype that includes intellectual disability, autism or autistic features, and disruptive behaviour. Fewer cases have been reported compared to RFX3and RFX7variants, 6 total, and 2 of the cases had epilepsy. The inheritance pattern has included de novo mutations along with one family with 3 siblings who were homozygous for an inherited missense variant that was present in each parent who was heterozygous for the variant.
RFX4