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neuronopathy, distal hereditary motor, autosomal recessive 9 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuronopathy, distal hereditary motor, autosomal recessive 9

MONDO:0957874

Overview

GeneticsAutosomal recessive · COQ7 (chr 16)

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: Distal upper limb muscle weakness, Difficulty walking (gait disturbance), Pes cavus, and Distal lower limb muscle weakness and others; and very common findings: Lower limb amyotrophy. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	7	Distal upper limb muscle weakness, Fasciculations, Gowers sign

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

COQ7 encodes coenzyme Q7, hydroxylase (217 aa). Catalyzes the hydroxylation of the 5-methoxy-2-methyl-3-(all-trans-polyprenyl)benzoquinone at the C6 position and participates in the biosynthesis of ubiquinone (Probable). Highest expression in Ovary (20.8 TPM) and Testis (19.7 TPM).

Neuronopathy, distal hereditary motor, autosomal recessive 9 is associated with mutations in the COQ7 gene on chromosome 16.

The COQ7 protein participates in COQ7:COQ9 octamer, COQ7:COQ9 octamer hydroxylates DMQ10H2, and COQ3 methylates DeMQ10H2 pathways.

COQ7 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for COQ7 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 1 very common feature, 5 common features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620402

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 9

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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