A case report of neurological manifestations and failure to thrive in neurobehavioural disease caused by a variant in RFX7

The RFX7 gene is one of eight genes within the regulatory factor X family. Three genes from this family have been linked to neurobehavioural disease, including RFX7 most recently. RFX7 is highly expressed in the brain and plays an important role in cell maturation and differentiation. As recently as 2021, reports from 15 individuals described RFX-associated phenotype as a neurobehavioural disease, leading to global developmental delay and intellectual disability. A clear characterization of human disease associated with RFX7 has not yet been made.