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myasthenic syndrome, congenital, 22 (CMS22) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myasthenic syndrome, congenital, 22

MONDO:0044299

Also known as:CMS22Prepl deficiency

Overview

GeneticsAutosomal recessive · PREPL (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: Tented upper lip vermilion, Feeding difficulties, Low muscle tone (hypotonia), and Ptosis and others. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	3	Low muscle tone (hypotonia), Muscle weakness, Proximal muscle weakness

Genetic Landscape

PREPL function has not been fully characterized.

Myasthenic syndrome, congenital, 22 is associated with mutations in the PREPL gene on chromosome 2.

Diagnosis

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

Biomarker and diagnostic research for myasthenic syndrome, congenital, 22 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present 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 myasthenic syndrome, congenital, 22.

13 publications have been identified in PubMed for myasthenic syndrome, congenital, 22. Research spans Epidemiology / Natural History (46%), Case Report / Case Series (23%), and Diagnostic / Biomarker (15%).

Research Type	Count	% of Total
Disease patterns and progression	6	46%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 2:25 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616224

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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myasthenic syndrome, congenital, 22

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

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Recent Publications

myasthenic syndrome, congenital, 22

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications