neuronopathy, distal hereditary motor, autosomal dominant 11
MONDO:0957875Mondo
Findings
No curated finding names neuronopathy, distal hereditary motor, autosomal dominant 11 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 · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
45 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.
- Achilles tendon contractureHPOHP:0001771
- 2 of 2 reported patients
- Areflexia of upper limbsHPOHP:0012046
- 1 of 1 reported patient
- AstheniaHPOHP:0025406
- 1 of 1 reported patient
- Babinski signHPOHP:0003487
- 1 of 1 reported patient
- Broad-based gaitHPOHP:0002136
- 1 of 1 reported patient
- Claw hand deformityHPOHP:0034337
- 1 of 1 reported patient
- ClumsinessHPOHP:0002312
- 1 of 1 reported patient
- Decreased compound muscle action potential amplitudeHPOHP:0033383
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Difficulty climbing stairsHPOHP:0003551
- 1 of 1 reported patient
- Distal lower limb amyotrophyHPOHP:0008944
- 8 of 8 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 11 of 11 reported patients
Show the remaining 33
- Distal muscle weaknessHPOHP:0002460
- 1 of 1 reported patient
- DyslexiaHPOHP:0010522
- 1 of 1 reported patient
- Foot dorsiflexor weaknessHPOHP:0009027
- 4 of 4 reported patients
- Frequent fallsHPOHP:0002359
- 1 of 1 reported patient
- Gait disturbanceHPOHP:0001288
- 2 of 2 reported patients
- Hallux valgusHPOHP:0001822
- 3 of 3 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.
- SPTAN1HGNC:11273
- Strong · PanelApp Australia · Autosomal dominant · 2025