Charcot-Marie-Tooth disease recessive intermediate D

ORPHA: 435998

Overview

Charcot-Marie-Tooth disease intermediate type that has material basis in homozygous mutation in the COX6A1 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:435998
Charcot-Marie-Tooth disease recessive intermediate D
OrphanetORPHA:435998
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO