Charcot-Marie-Tooth disease recessive intermediate C

ORPHA: 369867

Overview

Charcot-Marie-Tooth disease intermediate type that has material basis in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36

Available Treatments (0)

No treatments linked yet

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

Classification & Codes

Orphanet Code

ORPHA:369867
Charcot-Marie-Tooth disease recessive intermediate C
OrphanetORPHA:369867
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO