Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
Findings
No curated finding names Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0014906), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased number of large peripheral myelinated nerve fibersHPOHP:0003387
- 2 of 2 reported patients
- Distal sensory impairmentHPOHP:0002936
- 3 of 3 reported patients
- Gait disturbanceHPOHP:0001288
- 3 of 3 reported patients
- Lower limb amyotrophyHPOHP:0007210
- 3 of 3 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 3 of 3 reported patients
- Upper limb amyotrophyHPO
Genes
1 gene
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.
- MFN2HGNC:16877
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
1 name
Resolves to: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
- Also called
- Charcot-Marie-Tooth disease type 2A2B