Charcot-Marie-Tooth disease axonal type 20

ORPHA: 284232

Overview

Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32

Available Treatments (0)

No treatments linked yet

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

Classification & Codes

Orphanet Code

ORPHA:284232
Charcot-Marie-Tooth disease axonal type 20
OrphanetORPHA:284232
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO