After analyzing the phenotypic diversity between patients with BRAF or MAP2K1/2 variants, we found that the occurrence rates of hypoplasia of the eyebrows and macrocephaly were higher in patients with BRAF variants, whereas eczema, hearing impairment, cryptorchidism, and pulmonary valve stenosis were more common in patients with MAP2K1/2 variants. The gene discussed is MAP2K1; the disease is Macrocephaly.