Abstract: 　Objective　To analyze the clinical features and gene mutations of Andermann syndrome. Methods　Clinical features and gene testing results in two children with Andermann syndrome were retrospectively analyzed. Results　The proband is a 6 years old boy, and his elder brother is 8 years old, both of them had progressive sensory neuropathy and developmental delay. Electromyography of the younger brother indicates nerve damage, and cranial magnetic resonance shows corpus callosum dysplasia; the elder brother has joint contracture and scoliosis. Genetic analysis found the two patients had homozygous missense mutation of c.592 C>T (p.R198C) in SLC12A6, both of their parents were heterozygous mutation carrier of c.592 C>T (p.R198C). SLC12A6 mutations cause clinical symptoms by affecting the normal function of the K+/Cl－ cotransporter 3. Conclusions SLC12A6 is the only known pathogenic gene of Andermann syndrome, and its mutation types are related to the severity of clinical phenotypes.