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Charcot-Marie-Tooth disease type 2B1

Disease definition

Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.

ORPHA:98856

  • Synonym(s):
    • AR-CMT2B1
    • Autosomal recessive Charcot-Marie-Tooth disease type 2B1
    • Autosomal recessive axonal CMT4C1
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G60.0
  • OMIM: 605588
  • UMLS: C1854154
  • MeSH: C537990
  • GARD: 8548
  • MedDRA: -

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