Version: 8.0.0
Date: Tue Jan 28 2025
Charcot-Marie-Tooth disease type 2EE
DOID:0111559
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Charcot-Marie-Tooth disease type 2EE

Definition
A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV17 gene on chromosome 2p23.3.
Synonyms
  • Charcot-Marie-Tooth disease, axonal, type 2EE
  • CMT2EE
Cross References
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