RNF2 and craniofacial microsomia: In contrast, individual 6, who carries the RNF2 c.472C>T (p.R158*) nonsense variant, overlaps less with the RNF2 missense-associated phenotype, presenting with a broader and clinically distinct constellation of features, including learning disability, kidney involvement, hemifacial microsomia, and axial skeletal malformations.