Charcot-Marie-Tooth disease axonal type 2S

Definition

Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene.

Also known as Charcot-Marie-Tooth disease caused by mutation in IGHMBP2, Charcot-Marie-Tooth disease type 2S, CMT2S, IGHMBP2 Charcot-Marie-Tooth disease — per MONDO

Also identified as

• DOID 0110171 per MONDO
• OMIM 616155 per MONDO
• Orphanet 443073 per MONDO
• UMLS C4015349 per MONDO