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congenital myopathy 20 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myopathy 20

MONDO:0957215

Overview

GeneticsAutosomal recessive · RYR3 (chr 15)

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: Difficulty climbing stairs, Scapular winging, Gowers sign, and Weakness of facial musculature and others; and common findings: Epicanthus, Seizure, Toe joint contracture, and Echogenic intracardiac focus and others.

Organ System	Phenotype Count	Example Features
Muscles	12	Difficulty climbing stairs, Toe joint contracture, Gowers sign

Genetic Landscape

RYR3 function has not been fully characterized.

Congenital myopathy 20 is associated with mutations in the RYR3 gene on chromosome 15.

Diagnosis

Genetic testing for RYR3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital myopathy 20 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 12 always present features, 23 common features.

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 congenital myopathy 20.

87 publications have been identified in PubMed for congenital myopathy 20. Research spans Epidemiology / Natural History (24%), Case Report / Case Series (21%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Disease patterns and progression	21	24%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 10:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620310

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

congenital myopathy 20

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

congenital myopathy 20

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications