Charcot-Marie-Tooth disease axonal type 2Q
ORPHA: 329258
Overview
Charcot-Marie-Tooth disease type 2 that has material basis in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
Orphanet Code
ORPHA:329258Charcot-Marie-Tooth disease axonal type 2Q
| Orphanet | ORPHA:329258 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO