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Corpus callosum agenesis-neuronopathy syndrome

Disease definition

A rare 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

Classification level: Disorder
  • Synonym(s):
    • Andermann syndrome
    • Charlevoix disease
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: G60.0
  • ICD-11: LD20.Y
  • OMIM: 218000
  • UMLS: C0795950
  • MeSH: C536446
  • GARD: 1537
  • MedDRA: -

  A summary on this disease is available in Deutsch (2015) Español (2015) Français (2015) Italiano (2015) Nederlands (2015) Suomi (2015, pdf)

Detailed information

Disease review articles

Clinical Outcome Assessment (COA)

  • Patient-Centered Outcome Measures (PCOMs)
  • English (2023) - PROQOLIDTM
ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.