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nemaline myopathy 9 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nemaline myopathy 9

MONDO:0014326

Also known as:KLHL41 nemaline myopathyNEM9nemaline myopathy caused by mutation in KLHL41

Overview

Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene.

GeneticsAutosomal recessive · KLHL41 (chr 2)

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 common findings: Breech presentation; and sometimes findings: Cleft palate, Polyhydramnios, Sideways curvature of the spine (scoliosis), and Difficulty breathing (respiratory insufficiency) and others. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	2	Cleft palate, High palate

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.

KLHL41 encodes kelch like family member 41 (606 aa). Involved in skeletal muscle development and differentiation. Highest expression in Muscle Skeletal (3,420 TPM) and Heart Left Ventricle (56.8 TPM).

Nemaline myopathy 9 has been associated with mutations in the KLHL41 gene on chromosome 2.

KLHL41 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KLHL41 is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 1 common feature.

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 nemaline myopathy 9.

10 publications have been identified in PubMed for nemaline myopathy 9. Research spans Case Report / Case Series (30%), Basic Science / Preclinical (30%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Patient case studies	3	30%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615731

GARD

Genetic and Rare Diseases Info Center

GARD:16007

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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Kisho

nemaline myopathy 9

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

nemaline myopathy 9

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications