neuronopathy, distal hereditary motor, autosomal recessive 9
MONDO:0957874Mondo
Findings
No curated finding names neuronopathy, distal hereditary motor, autosomal recessive 9 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
- Juvenile onset
HPO, annotations 2026-09-02
Features
15 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.
- Distal lower limb muscle weaknessHPOHP:0009053
- 6 of 6 reported patients
- Distal upper limb muscle weaknessHPOHP:0008959
- 6 of 6 reported patients
- Gait disturbanceHPOHP:0001288
- 3 of 3 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient
- Pes cavusHPOHP:0001761
- 3 of 3 reported patients
- Lower limb amyotrophyHPOHP:0007210
- 5 of 6 reported patients
- Gowers signHPOHP:0003391
- 2 of 3 reported patients
- FasciculationsHPOHP:0002380
- 1 of 2 reported patients
- Babinski signHPOHP:0003487
- 1 of 3 reported patients
- Hoffmann signHPOHP:0031993
- 1 of 3 reported patients
- HyperreflexiaHPOHP:0001347
- 1 of 3 reported patients
- Proximal lower limb muscle weaknessHPOHP:0008994
- 1 of 6 reported patients
Show the remaining 3
- DementiaHPOHP:0000726
- 0 of 3 reported patients
- Disturbed sensory perceptionHPOHP:0010524
- 0 of 6 reported patients
- Proximal upper limb muscle weaknessHPOHP:0008997
- 0 of 6 reported patients
Where it sits
Other names
2 names
Resolves to: neuronopathy, distal hereditary motor, autosomal recessive 9
- Also called
- COQ7-related distal hereditary motor neuropathyHMNR9