Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

congenital myopathy 15 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myopathy 15

MONDO:0859335

Overview

GeneticsAutosomal dominant · TNNC2 (chr 20)

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: Weakness of facial musculature and Muscle weakness; and common findings: Polyhydramnios, Low muscle tone (hypotonia), Fatty replacement of skeletal muscle, and Motor delay and others. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	6	Low muscle tone (hypotonia), Fatty replacement of skeletal muscle, Weakness of facial musculature

Genetic Landscape

TNNC2 function has not been fully characterized.

Congenital myopathy 15 is associated with mutations in the TNNC2 gene on chromosome 20.

Diagnosis

Genetic testing for TNNC2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 10 common features.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620161

Questions for Your Care Team

→Should I pursue genetic testing for TNNC2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

congenital myopathy 15

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features