Features include always present findings: Motor axonal neuropathy; and very common findings: Distal lower limb muscle weakness and Proximal lower limb muscle weakness. 19 total HPO annotations.

VWA1 function has not been fully characterized.

Neuronopathy, distal hereditary motor, autosomal recessive 7 is associated with mutations in the VWA1 gene on chromosome 1.

Genetic testing for VWA1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for neuronopathy, distal hereditary motor, autosomal recessive 7 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 2 very common features, 10 common features.

No clinical trials have been registered for neuronopathy, distal hereditary motor, autosomal recessive 7.

4 publications have been identified in PubMed for neuronopathy, distal hereditary motor, autosomal recessive 7. Research spans Diagnostic / Biomarker (25%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

• Safka Brozkova D (2026). [PMID: 41749354](https://pubmed.ncbi.nlm.nih.gov/41749354/). *Human genomics*. [Diagnostic / Biomarker]

• Costa AF (2025). [PMID: 41331965](https://pubmed.ncbi.nlm.nih.gov/41331965/). *Journal of clinical neuromuscular disease*. [Case Report / Case Series]

• Fontana PN (2025). [PMID: 41331967](https://pubmed.ncbi.nlm.nih.gov/41331967/). *Journal of clinical neuromuscular disease*. [Review / Meta-Analysis]

• De Winter J (2024). [PMID: 39371122](https://pubmed.ncbi.nlm.nih.gov/39371122/). *medRxiv : the preprint server for health sciences*. [Basic Science / Preclinical]