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References OMIM Gene GeneReviews HGMD HGNC
last update : 25-10-2010
Symbol DICMT4
Location 16q23.1
Name dominant intermediate Charcot-Marie-Tooth neuropathy 4
Other name(s) Charcot-Marie-Tooth disease, recessive intermediate, B
Corresponding gene KARS
Other symbol(s) CMTRIB
Main clinical features
  • neuropathy, with liability to pressure palsies
  • developmental delay, self-abusive behavior, dysmorphic features
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease