An autosomal recessive (OMIM:218000) condition characterised by motor and sensory neuropathy, agenesis of corpus callosum, areflexia, muscular hypotonia, muscle wasting, progressive weakness, tremors, and regression of developmental milestones achieved by age 3-4, with scoliosis, gaze palsy, ptosis. Skeletal defects include ocular hypertelorism, widened, short skull–brachycephaly), high palatal arch, overriding great toe, syndactyly of second and third toes. Neuropsychiatric findings include mental retardation, seizures, depression and hallucinations.
Molecular pathology Defects of SLC12A6, which encodes a transmembrane potassium and chloride cotransporter, cause Andermann syndrome.
Synonyms Agenesis of corpus callosum with neuropathy, Charlevoix disease, corpus callosum agenesis neuronopathy
References doi: 10.1212/01.wnl.0000204181.31175.8b
Neurology April 11, 2006 vol. 66 no. 7 1044-1048