neuronopathy, distal hereditary motor, type 9
MONDO:0060585Mondo
Findings
No curated finding names neuronopathy, distal hereditary motor, type 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Slowly progressive
HPO, annotations 2026-09-02
Features
7 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
- 7 of 7 reported patients
- Distal lower limb amyotrophyHPOHP:0008944
- 7 of 7 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 7 of 7 reported patients
- Distal upper limb amyotrophyHPOHP:0007149
- 7 of 7 reported patients
- Distal upper limb muscle weaknessHPOHP:0008959
- 7 of 7 reported patients
- Motor axonal neuropathyHPOHP:0007002
- 7 of 7 reported patients
- Absent patellar reflexesHPOHP:0006844
- 4 of 7 reported patients
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.
- WARS1HGNC:12729
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Broad Center for Mendelian Genomics · Autosomal dominant · 2022
- Moderate · PanelApp Australia · Autosomal dominant · 2025