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Charcot-Marie-Tooth disease type 2

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Description

A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.

MONDO

  • Mode of Inheritance

    VARIANTS

    2,173

    SEE THE VARIANTS →

    Genes

    • DNAJB2
    • IGHMBP2
    • MARS1
    • MME
    • AARS1
    • DYNC1H1
    • GARS1
    • GDAP1
    • HSPB1
    • HSPB8
    • JPH1
    • KIF1B
    • MFN2
    • MPZ
    • NEFL
    • RAB7A
    • TRPV4

    External Links

    • OMIM
    • Orphanet

      64746

    • HPO
    • Medgen

      C0270914

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