This website provides information on patients with mutations in the SLC12A6 gene, including clinical data, molecular data, management and research options.
Mutations in the SLC12A6 gene can cause a severe autosomal recessive disorder known as hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) or Andermann syndrome. It is a multisystem disorder characterized by progressive sensorimotor neuropathy, variable degrees of agenesis of corpus callosum and developmental delay with variable other facultative features. Some mutations in the SLC12A6 gene cause a milder autosomal dominant disorder characterized by sensorimotor neuropathy with or without spasticity.
Not all individuals with a mutation in the SLC12A6 gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the SLC12A6 gene.
Joohyun Park, MD, Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany, firstname.lastname@example.org
Tobias B. Haack, MD, Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany, email@example.com