Disease association ontology term - MONDO:0014906 - Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
Term summary
- ID
- MONDO:0014906
- Name
- Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
- Ontology or CV name
- Disease association
- Definition
- An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A.
