Charcot-Marie-Tooth disease dominant intermediate F
Findings
No curated finding names Charcot-Marie-Tooth disease dominant intermediate F 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 F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.
Definition from the Mondo Disease Ontology (MONDO:0014074), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Juvenile onset · Slowly progressive · Young adult onset
HPO, annotations 2026-09-02
Features
13 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.
- Distal lower limb amyotrophyHPOHP:0008944
- 7 of 7 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 7 of 7 reported patients
- HammertoeHPOHP:0001765
- 1 of 1 reported patient
- Onion bulb formationHPOHP:0003383
- 2 of 2 reported patients
- Peripheral demyelinationHPOHP:0011096
- 2 of 2 reported patients
- Absent Achilles reflexHPOHP:0003438
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.
- GNB4HGNC:20731
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: Charcot-Marie-Tooth disease dominant intermediate F
- Also called
- autosomal dominant intermediate Charcot-Marie-Tooth disease type FCharcot-Marie-Tooth disease dominant intermediate type FCharcot-Marie-Tooth disease, dominant Intermediate type FCMTDIF