Females with heterozygous pathogenic USP9X variants can be asymptomatic, but can also have developmental delay, structural brain malformations, dysmorphisms, short stature, choanal atresia, postaxial polydactyly, congenital heart disease, facial clefting, anal atresia, and scoliosis41,42. The gene discussed is USP9X; the disease is choanal atresia.