neuronopathy, distal hereditary motor, autosomal recessive 10
MONDO:0957876Mondo
Findings
No curated finding names neuronopathy, distal hereditary motor, autosomal recessive 10 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
- Middle age onset · Juvenile onset · Childhood onset · Antenatal onset
HPO, annotations 2026-09-02
Features
24 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 number of peripheral myelinated nerve fibersHPOHP:0003380
- 1 of 1 reported patient
- Increased endomysial connective tissueHPOHP:0100297
- 1 of 1 reported patient
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient
- Motor axonal neuropathyHPOHP:0007002
- 6 of 6 reported patients
- Motor delayHPOHP:0001270
- 2 of 2 reported patients
- Distal muscle weaknessHPOHP:0002460
- 7 of 8 reported patients
- Skeletal muscle atrophyHPOHP:0003202
- 7 of 8 reported patients
- HyporeflexiaHPOHP:0001265
- 6 of 8 reported patients
- HypotoniaHPOHP:0001252
- 4 of 6 reported patients
- Pes cavusHPOHP:0001761
- 2 of 3 reported patients
- Sensory axonal neuropathyHPOHP:0003390
- 3 of 6 reported patients
- Simplified gyral patternHPOHP:0009879
- 3 of 7 reported patients
Show the remaining 12
- MicrocephalyHPOHP:0000252
- 3 of 8 reported patients
- Babinski signHPOHP:0003487
- 2 of 8 reported patients
- HyperreflexiaHPOHP:0001347
- 2 of 8 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 2 of 8 reported patients
- ScoliosisHPOHP:0002650
- 2 of 8 reported patients
- Delayed ability to roll overHPOHP:0032989
- 1 of 6 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.
- VRK1HGNC:12718
- Strong · PanelApp Australia · Autosomal recessive · 2025