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congenital myasthenic syndrome 20 (CMS20) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myasthenic syndrome 20

MONDO:0014939

Also known as:CMS20SLC5A7 congenital myasthenic syndromecongenital myasthenic syndrome 20 presynaptic

Overview

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene.

GeneticsAutosomal recessive · SLC5A7 (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 always present findings: Facial palsy, Motor delay, Ophthalmoparesis, and Delayed ability to walk and others; and very common findings: Difficulty swallowing (dysphagia) and Apnea. 24 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	7	Fatigable weakness, Low muscle tone (hypotonia), Muscle weakness

Genetic Landscape

SLC5A7 function has not been fully characterized.

Congenital myasthenic syndrome 20 is associated with mutations in the SLC5A7 gene on chromosome 2.

Diagnosis

Genetic testing for SLC5A7 is available. Testing is considered confirmatory for diagnosis.

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

Prognosis

Phenotype severity distribution: 5 always present features, 2 very common features, 7 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 myasthenic syndrome 20.

20 publications have been identified in PubMed for congenital myasthenic syndrome 20. Research spans Case Report / Case Series (35%), Epidemiology / Natural History (25%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Patient case studies	7	35%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:43 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617143

GARD

Genetic and Rare Diseases Info Center

GARD:16202

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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congenital myasthenic syndrome 20

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

congenital myasthenic syndrome 20

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