Charcot-Marie-Tooth disease dominant intermediate B
Findings
No curated finding names Charcot-Marie-Tooth disease dominant intermediate B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.
Definition from the Mondo Disease Ontology (MONDO:0011674), read 2026-09-29. CC BY 4.0.
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.
- DNM2HGNC:2974
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (1)
Other names
8 names
Resolves to: Charcot-Marie-Tooth disease dominant intermediate B
- Also called
- Charcot-Marie-Tooth disease caused by mutation in DNM2Charcot-Marie-Tooth disease dominant intermediate type BCharcot-Marie-Tooth disease, axonal type 2MCharcot-Marie-Tooth disease, dominant Intermediate type BCMTDI1CMTDIBDI-CMTBDNM2 Charcot-Marie-Tooth disease