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Autosomal dominant Charcot-Marie-Tooth disease type 2J

Orpha number ORPHA99943
Synonym(s) CMT2J
Prevalence -
Inheritance
  • Autosomal dominant
Age of onset Adulthood
ICD-10
  • G60.0
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, papillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.


Last update: February 2012

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Detailed information
Clinical genetics review
  • EN (2013)
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