neuronopathy, distal hereditary motor, autosomal recessive 8
MONDO:0030055Mondo
Findings
No curated finding names neuronopathy, distal hereditary motor, autosomal recessive 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
11 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.
- Elevated circulating sorbitol concentrationHPOHP:0033124
- 10 of 10 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 43 of 44 reported patients
- Decreased amplitude of sensory action potentialsHPOHP:0007078
- 26 of 40 reported patients
- Distal upper limb muscle weaknessHPOHP:0008959
- 26 of 44 reported patients
- Impaired vibratory sensationHPOHP:0002495
- 17 of 40 reported patients
- Impaired pain sensationHPOHP:0007328
- 13 of 39 reported patients
- Decreased motor nerve conduction velocityHPOHP:0003431
- 11 of 42 reported patients
- Proximal lower limb muscle weaknessHPOHP:0008994
- 2 of 44 reported patients
- Gait disturbanceHPOHP:0001288
- Pes cavusHPOHP:0001761
- ScoliosisHPOHP:0002650
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.
- SORDHGNC:11184
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
3 names
Resolves to: neuronopathy, distal hereditary motor, autosomal recessive 8
- Also called
- sorbitol dehydrogenase deficiencysorbitol dehydrogenase deficiency with peripheral neuropathySORDD