Corpus callosum agenesis-neuronopathy syndrome

What is Corpus callosum agenesis-neuronopathy syndrome?

Corpus callosum agenesis-neuronopathy syndrome 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.

Other condition names

  • Andermann syndrome
  • Charlevoix disease

Inheritance type

Autosomal recessive

Age of Onset

  • Antenatal
  • Neonatal
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