neuronopathy, distal hereditary motor, type 2C
Findings
No curated finding names neuronopathy, distal hereditary motor, type 2C 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 HSPB3 gene.
Definition from the Mondo Disease Ontology (MONDO:0013243), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- 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.
- Absent Achilles reflexHPOHP:0003438
- 2 of 2 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 2 of 2 reported patients
- Distal upper limb muscle weaknessHPOHP:0008959
- 2 of 2 reported patients
- EMG: neuropathic changesHPOHP:0003445
- 2 of 2 reported patients
- Hand muscle weaknessHPOHP:0030237
- 2 of 2 reported patients
- Steppage gaitHPOHP:0003376
- 2 of 2 reported patients
- Absent patellar reflexesHPO
Show the remaining 1
- Peripheral neuropathyHPOHP:0009830
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.
- HSPB3HGNC:5248
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: neuronopathy, distal hereditary motor, type 2C
- Also called
- HSPB3 neuronopathy, distal hereditary motorneuronopathy, distal hereditary motor caused by mutation in HSPB3