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Charcot-Marie-Tooth disease recessive intermediate B

ORPHA: 254334

Contents

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

Overview

Charcot-Marie-Tooth disease intermediate type that has material basis in compound heterozygous mutation in the KARS gene on chromosome 16q23

Available Treatments (0)

No treatments linked yet

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

Classification & Codes

Orphanet Code

ORPHA:254334
Charcot-Marie-Tooth disease recessive intermediate B
OrphanetORPHA:254334
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
Charcot-Marie-Tooth disease recessive intermediate B | OrphanDrug