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Features include always present findings: Distal upper limb muscle weakness, Distal lower limb muscle weakness, Motor axonal neuropathy, and Distal upper limb amyotrophy and others; and common findings: Absent patellar reflexes. 10 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Arms and legs | 4 | Distal upper limb muscle weakness, Distal lower limb muscle weakness, Distal upper limb amyotrophy |
WARS1 function has not been fully characterized.
Neuronopathy, distal hereditary motor, type 9 is associated with mutations in the WARS1 gene on chromosome 14.
Genetic testing for WARS1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 6 always present features, 1 common feature.
No clinical trials have been registered for neuronopathy, distal hereditary motor, type 9.
4 publications have been identified in PubMed for neuronopathy, distal hereditary motor, type 9. Research spans Review / Meta-Analysis (25%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).
Antos A (2026). [PMID: 42122051](https://pubmed.ncbi.nlm.nih.gov/42122051/). *Diagnostics (Basel)*. [Review / Meta-Analysis]
Mercan M (2025). [PMID: 40085521](https://pubmed.ncbi.nlm.nih.gov/40085521/). *Amyotroph Lateral Scler Frontotemporal Degener*. [Case Report / Case Series]
Stanworth M (2024). [PMID: 39480826](https://pubmed.ncbi.nlm.nih.gov/39480826/). *PLoS One*. [Basic Science / Preclinical]
Jiménez-Jiménez J (2024). [PMID: 39051710](https://pubmed.ncbi.nlm.nih.gov/39051710/). *Eur J Neurol*. [Epidemiology / Natural History]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:32 PM UTC
Online Mendelian Inheritance in Man
Brain and nerves | 3 | Hyporeflexia, Difficulty walking (gait disturbance), Motor axonal neuropathy |
Muscles | 2 | Distal upper limb muscle weakness, Distal lower limb muscle weakness |