neuronopathy, distal hereditary motor, type 2D
Findings
No curated finding names neuronopathy, distal hereditary motor, type 2D yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene.
Definition from the Mondo Disease Ontology (MONDO:0014259), read 2026-09-29. CC BY 4.0.
Features
8 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 motor nerve conduction velocityHPOHP:0003431
- 5 of 5 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 11 of 11 reported patients
- Decreased Achilles reflexHPOHP:0009072
- 10 of 11 reported patients
- Difficulty runningHPOHP:0009046
- EMG: chronic denervation signsHPOHP:0003444
- FasciculationsHPOHP:0002380
- Gait disturbanceHPOHP:0001288
- Spinal muscular atrophyHPOHP:0007269
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.
- FBXO38HGNC:28844
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: neuronopathy, distal hereditary motor, type 2D
- Also called
- FBXO38 neuronopathy, distal hereditary motorneuronopathy, distal hereditary motor caused by mutation in FBXO38