neuronopathy, distal hereditary motor, autosomal recessive 7
MONDO:0030977Mondo
Findings
No curated finding names neuronopathy, distal hereditary motor, autosomal recessive 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
19 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.
- Motor axonal neuropathyHPOHP:0007002
- 15 of 15 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 15 of 16 reported patients
- Proximal lower limb muscle weaknessHPOHP:0008994
- 13 of 16 reported patients
- Pes cavusHPOHP:0001761
- 11 of 17 reported patients
- Lower limb amyotrophyHPOHP:0007210
- 10 of 17 reported patients
- Proximal upper limb muscle weaknessHPOHP:0008997
- 10 of 17 reported patients
- Flexion contractureHPOHP:0001371
- 9 of 17 reported patients
- Foot dorsiflexor weaknessHPOHP:0009027
- 9 of 17 reported patients
- HyporeflexiaHPOHP:0001265
- 8 of 16 reported patients
- Distal upper limb muscle weaknessHPOHP:0008959
- 8 of 17 reported patients
- MyalgiaHPOHP:0003326
- 7 of 17 reported patients
- Frequent fallsHPOHP:0002359
- 6 of 17 reported patients
Show the remaining 7
- Talipes equinovarusHPOHP:0001762
- 6 of 17 reported patients
- EMG: myopathic abnormalitiesHPOHP:0003458
- 3 of 12 reported patients
- Impaired tactile sensationHPOHP:0010830
- 3 of 15 reported patients
- ParesthesiaHPOHP:0003401
- 3 of 17 reported patients
- Scapular wingingHPOHP:0003691
- 2 of 17 reported patients
- Tongue fasciculationsHPOHP:0001308
- 2 of 17 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.
- VWA1HGNC:30910
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: neuronopathy, distal hereditary motor, autosomal recessive 7
- Also called
- HMNMYOneuropathy, hereditary motor, with myopathic features