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Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

Disease definition

Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.

ORPHA:397744

Classification level: Disorder
  • Synonym(s):
    • Peripheral neuropathy-myopathy-hoarseness-deafness syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: G60.0
  • OMIM: 614369
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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