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Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

Disease definition

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.

ORPHA:254334

  • Synonym(s):
    • RI-CMT type B
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G60.0
  • OMIM: 613641
  • UMLS: -
  • MeSH: -
  • GARD: 12454
  • MedDRA: -

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