Charcot-Marie-Tooth disease type 2T

Definition

A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.

Also known as AR-CMT2T, autosomal recessive axonal Charcot-Marie-Tooth disease type 2T, Charcot-Marie-Tooth disease, axonal, type 2T, CMT2T — per MONDO

Also identified as

• DOID 0110160 per MONDO
• OMIM 617017 per MONDO
• Orphanet 495274 per MONDO