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Agenesis of the Corpus Callosum with Peripheral Neuropathy

From SNPedia

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC or ACCPN), also known as Andermann Syndrome, a neurodevelopmental and neurodegenerative disorder, is characterized by severe progressive sensorimotor neuropathy with resulting hypotonia, areflexia, and amyotrophy and variable degrees of dysgenesis of the corpus callosum.NIH

ACCPN is inherited as an autosomal recessive, through mutations in the SLC12A6 gene.

Several SLC12A6 mutations leading to ACCPN have been identified, including: