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Charcot-Marie-Tooth disease axonal type 2C

ORPHA: 99937

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Classification & Codes

Overview

Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the TRPV4 gene on chromosome 12q24

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Classification & Codes

Orphanet Code

ORPHA:99937
Charcot-Marie-Tooth disease axonal type 2C
OrphanetORPHA:99937
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
Charcot-Marie-Tooth disease axonal type 2C | OrphanDrug