β-actin is encoded by ACTB, and pathogenic variations in this gene have typically been associated with Baraitser-Winter cerebrofrontofacial syndrome (BRWS; OMIM 243310), a congenital malformation syndrome typified by short stature, craniofacial anomalies, and cerebral anomalies [4, 5]. Here, ACTB is linked to Baraitser-Winter cerebrofrontofacial syndrome.