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Corpus callosum agenesis-neuronopathy syndrome

Disease definition

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.

ORPHA:1496

  • Synonym(s):
    • Andermann syndrome
    • Charlevoix disease
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: G60.0
  • OMIM: 218000
  • UMLS: C0795950
  • MeSH: C536446
  • GARD: 1537
  • MedDRA: -

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