Although peripheral blood mononuclear cells from the patient and her parents did not harbor any genetic SMARCA4 alterations, an experienced clinical geneticist (S.M.)identified that the patient harbored dysmorphic features including epicanthus, deformed and low-set ears, thick lips, slender and curved nails, and slender toes, indicating Coffin-Siris syndrome with somatic mosaicism of SMARCA4 mutation. This evidence concerns the gene SMARCA4 and Coffin-Siris syndrome.