The patient's condition was consistent with typical clinical manifestations of SGBS1, such as postnatal macrosomia, coarse facial features, macrostomia, macroglossia, and polydactyly.[8] The clinical phenotype also included subclinical hypothyroidism, which has not been reported in other case reports or literature related to SGBS1. The gene discussed is GPC3; the disease is macroglossia.