neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity
MONDO:0971150Mondo
Findings
No curated finding names neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity 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 · Childhood onset
HPO, annotations 2026-09-02
Features
28 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
- 13 of 13 reported patients
- Babinski signHPOHP:0003487
- 13 of 13 reported patients
- Distal lower limb amyotrophyHPOHP:0008944
- 13 of 13 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 13 of 13 reported patients
- Distal upper limb muscle weaknessHPOHP:0008959
- 13 of 13 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 2 of 2 reported patients
- Frequent fallsHPOHP:0002359
- 4 of 4 reported patients
- Gait disturbanceHPOHP:0001288
- 5 of 5 reported patients
- HyperreflexiaHPOHP:0001347
- 13 of 13 reported patients
- Lower limb spasticityHPOHP:0002061
- 13 of 13 reported patients
- Motor delayHPOHP:0001270
- 2 of 2 reported patients
- Spastic gaitHPOHP:0002064
- 8 of 8 reported patients
Show the remaining 16
- Tip-toe gaitHPOHP:0030051
- 8 of 8 reported patients
- Distal upper limb amyotrophyHPOHP:0007149
- 11 of 13 reported patients
- Foot dorsiflexor weaknessHPOHP:0009027
- 11 of 13 reported patients
- Motor axonal neuropathyHPOHP:0007002
- 11 of 13 reported patients
- Weakness of long finger extensor musclesHPOHP:0009077
- 10 of 13 reported patients
- Pes planusHPOHP:0001763
- 9 of 13 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.
- RTN2HGNC:10468
- Strong · Ambry Genetics · Autosomal recessive · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025