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myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive (CMS7B) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive

MONDO:0030341

Also known as:CMS7B

Overview

GeneticsAutosomal recessive · SYT2 (chr 1)

OnsetCONGENITAL, INFANTILE, ANTENATAL

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: Low muscle tone (hypotonia) and Weakness of facial musculature; and very common findings: Areflexia. 29 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	10	Low muscle tone (hypotonia), Weakness of facial musculature, Tongue fasciculations

Genetic Landscape

SYT2 function has not been fully characterized.

Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive is associated with mutations in the SYT2 gene on chromosome 1.

Diagnosis

Genetic testing for SYT2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 6 common features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619461

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, 7B, presynaptic, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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