Charcot-Marie-Tooth disease axonal type 2S
ORPHA: 443073
Overview
Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
Orphanet Code
ORPHA:443073Charcot-Marie-Tooth disease axonal type 2S
| Orphanet | ORPHA:443073 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO