neuronopathy, distal hereditary motor, autosomal dominant 10
MONDO:0859300Mondo
Findings
No curated finding names neuronopathy, distal hereditary motor, autosomal dominant 10 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
- 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.
- Decreased compound muscle action potential amplitudeHPOHP:0033383
- 4 of 4 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 4 of 4 reported patients
- Fiber type groupingHPOHP:0033685
- 1 of 1 reported patient
- Pes cavusHPOHP:0001761
- 2 of 3 reported patients
- ClonusHPOHP:0002169
- 2 of 4 reported patients
- HyperreflexiaHPOHP:0001347
- 2 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 4 reported patients
- Small thenar eminenceHPOHP:0001245
- 2 of 4 reported patients
- Pes planusHPOHP:0001763
- 3 of 7 reported patients
- Ascending aortic dissectionHPOHP:0004933
- 1 of 3 reported patients
- BronchiectasisHPOHP:0002110
- 1 of 3 reported patients
- Bruising susceptibilityHPOHP:0000978
- 1 of 3 reported patients
Show the remaining 7
- Descending aortic dissectionHPOHP:0012499
- 1 of 3 reported patients
- Joint hypermobilityHPOHP:0001382
- 1 of 3 reported patients
- OsteoarthritisHPOHP:0002758
- 1 of 3 reported patients
- Peripheral neuropathyHPOHP:0009830
- 1 of 3 reported patients
- Scapular wingingHPOHP:0003691
- 1 of 3 reported patients
- Sensorimotor neuropathyHPOHP:0007141
- 1 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.
- EMILIN1HGNC:19880
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: neuronopathy, distal hereditary motor, autosomal dominant 10
- Also called
- neuronopathy, distal hereditary motor, type X