SLC12A3 and Gerstmann syndrome: We report a girl aged 8 years and 10 months with GS, who has a paternally inherited heterozygous mutation in SLC12A3, and maternally inherited heterozygous variants in both CLCNKB and CLCNKA. This case may aid understanding of the phenotypic characteristics of the inactivated NCC and CLCNKA and CLCNKB in GS.