Charcot-Marie-Tooth disease type 2A1

ORPHA: 99946

Overview

Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the KIF1B 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:99946
Charcot-Marie-Tooth disease type 2A1
OrphanetORPHA:99946
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
Charcot-Marie-Tooth disease type 2A1 | OrphanDrug