/Charcot-Marie-Tooth disease type 2B2

Charcot-Marie-Tooth disease type 2B2

Rare Disease

MONDO:0011570

Also Known As

AR-CMT2B2ARCMT2BCMT2B2Charcot-Marie-Tooth disease neuronal type 2B2Charcot-Marie-Tooth disease type 2B2Charcot-Marie-Tooth disease, type 2B2Charcot-Marie-Tooth neuropathy type 2B2autosomal recessive axonal CMT4C3autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2Arcmt2BCMT 2B2Charcot Marie Tooth disease type 2B2Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B2Charcot-Marie-Tooth disease, axonal, type 2B2Charcot-Marie-Tooth disease, neuronal, type 2B2Charcot-Marie-Tooth neuropathy, type 2B2

Definition

Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.