Agenesis of the Corpus Callosum with Peripheral Neuropathy (ACCPN)

Corpus callosum agenesis with Peripheral Neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features.

Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.

Genes analyzed

SLC12A6

Haven't you taken a DNA test yet?

Get your genetic test and find out all about yourself.

starter

Ancestry, Traits and Wellness

advanced

Health, Ancestry, Traits and Wellness

Special offer Christmas

Until December 26

-15% on our DNA tests

Use our code XMAS15