Charcot-Marie-Tooth disease type 4B1
Findings
No curated finding names Charcot-Marie-Tooth disease type 4B1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).
Definition from the Mondo Disease Ontology (MONDO:0011066), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
1 feature
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.
- Myelin outfoldingsHPOHP:0004336
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.
- MTMR2HGNC:7450
- Strong · Ambry Genetics · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: Charcot-Marie-Tooth disease type 4B1
- Also called
- Charcot-Marie-Tooth disease type 4 caused by mutation in MTMR2CMT4B1MTMR2 Charcot-Marie-Tooth disease type 4