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HEREDITARY MONOGENIC DISEASES

           

Corpus callosum agenesis with peripheral neuropathy

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.

GENE OR REGION STUDIED


  • SLC12A6