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mirror movements 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mirror movements 3

MONDO:0014478

Also known as:DNAL4 familial congenital mirror movementsfamilial congenital mirror movements caused by mutation in DNAL4mirror movements type 3

Overview

Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene.

GeneticsAutosomal recessive · DNAL4 (chr 22)

Clinical Presentation

Features include: Situs inversus totalis and Bimanual synkinesia.

Explore clinical features

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.

DNAL4 encodes dynein axonemal light chain 4 (105 aa). Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity Highest expression in Testis (97.3 TPM) and Pituitary (37.4 TPM).

Mirror movements 3 is associated with mutations in the DNAL4 gene on chromosome 22.

DNAL4 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DNAL4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for mirror movements 3 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for mirror movements 3.

65 publications have been identified in PubMed for mirror movements 3. Research spans Clinical Trial Publication (34%), Basic Science / Preclinical (31%), and Review / Meta-Analysis (20%).

Research Type	Count	% of Total
Clinical study results	22	34%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616059

GARD

Genetic and Rare Diseases Info Center

GARD:16055

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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mirror movements 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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