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neuronopathy, distal hereditary motor, autosomal recessive 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuronopathy, distal hereditary motor, autosomal recessive 10

MONDO:0957876

Overview

GeneticsAutosomal recessive · VRK1 (chr 14)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Motor delay, Increased endomysial connective tissue, Motor axonal neuropathy, and Decreased number of peripheral myelinated nerve fibers and others; and very common findings: Distal muscle weakness and Skeletal muscle atrophy. 24 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	5	Low muscle tone (hypotonia), Distal muscle weakness, Proximal muscle weakness

Genetic Landscape

VRK1 function has not been fully characterized.

Neuronopathy, distal hereditary motor, autosomal recessive 10 is associated with mutations in the VRK1 gene on chromosome 14.

Diagnosis

Genetic testing for VRK1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 2 very common features, 6 common features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 4:03 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620542

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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neuronopathy, distal hereditary motor, autosomal recessive 10

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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