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

myopathy, congenital, with fiber-type disproportion, X-linked (CFTDX) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myopathy, congenital, with fiber-type disproportion, X-linked

MONDO:0010365

Also known as:CFTDXmyopathy, congenital, with fiber-type disproportion, X-linked, X-linked dominant

Overview

GeneticsX-linked

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: Decreased body weight, Polyhydramnios, Generalized neonatal hypotonia, and Facial palsy and 11 more.

Organ System	Phenotype Count	Example Features
Muscles	4	Generalized neonatal hypotonia, Myopathy, Frontalis muscle weakness

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 myopathy, congenital, with fiber-type disproportion, X-linked.

28 publications have been identified in PubMed for myopathy, congenital, with fiber-type disproportion, X-linked. Research spans Case Report / Case Series (29%), Basic Science / Preclinical (21%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Patient case studies	8	29%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300580

GARD

Genetic and Rare Diseases Info Center

GARD:15258

Questions for Your Care Team

→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

Kisho

myopathy, congenital, with fiber-type disproportion, X-linked

Overview

Clinical Presentation

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

myopathy, congenital, with fiber-type disproportion, X-linked

Overview

Clinical Presentation

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