Charcot-Marie-Tooth disease recessive intermediate B
Findings
No curated finding names Charcot-Marie-Tooth disease recessive intermediate B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.
Definition from the Mondo Disease Ontology (MONDO:0013338), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 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 compound muscle action potential amplitudeHPOHP:0033383
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Self-injurious behaviorHPOHP:0100716
- 1 of 1 reported patient
- Vestibular schwannomaHPOHP:0009588
- 1 of 1 reported patient
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.
- KARS1HGNC:6215
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
8 names
Resolves to: Charcot-Marie-Tooth disease recessive intermediate B
- Also called
- autosomal recessive intermediate Charcot-Marie-Tooth disease type BCharcot-Marie-Tooth disease caused by mutation in KARSCharcot-Marie-Tooth disease recessive intermediate type BCharcot-Marie-Tooth disease, recessive Intermediate type BCMTRIBKARS Charcot-Marie-Tooth diseaseRI-CMT type BRI-CMTB