Charcot-Marie-Tooth disease axonal type 2X

Definition

Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene.

Also known as ARCMT2X, autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation, Charcot-Marie-Tooth disease caused by mutation in SPG11, Charcot-Marie-Tooth disease, axonal, type 2x, CMT2X, SPG11 Charcot-Marie-Tooth disease — per MONDO

Also identified as

• DOID 0110176 per MONDO
• OMIM 616668 per MONDO
• Orphanet 466775 per MONDO
• UMLS C5569024 per MONDO