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Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

Disease definition

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.

ORPHA:101097

  • Synonym(s):
    • ARCMT2K
    • Autosomal recessive axonal CMT4C4
    • Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G60.0
  • OMIM: 607706  607831
  • UMLS: C1842983
  • MeSH: -
  • GARD: 12448
  • MedDRA: -

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