Therefore, this study speculates that the compound heterozygous variation of c.1444-10 (IVS11) G > A and c.179 (exon1) C > T (p.T60M) in the patient’s SLC12A3 gene is the genetic cause of GS, further expanding the SLC12A3 gene variation spectrum and providing more information for GS screening and genetic counseling. The gene discussed is SLC12A3; the disease is Gerstmann syndrome.