Charcot-Marie-Tooth disease type 2B2
MONDO:0011570Mondo
Findings
No curated finding names Charcot-Marie-Tooth disease type 2B2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0011570), read 2026-09-29. CC BY 4.0.
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
Other names
6 names
Resolves to: Charcot-Marie-Tooth disease type 2B2
- Also called
- AR-CMT2B2ARCMT2Bautosomal recessive axonal Charcot-Marie-Tooth disease type 2B2autosomal recessive axonal CMT4C3Charcot-Marie-Tooth disease, type 2B2CMT2B2