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monosomy X - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

monosomy X

MONDO:0020466

Also known as:monosomy type X

Overview

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 very common findings: Abnormality of the ovary, Short neck, Delayed puberty, and Increased circulating gonadotropin level and others; and common findings: High palate, Retrognathia, Micrognathia, and Hearing loss (hearing impairment) and others. 100 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	9	Mild bone density loss (osteopenia), Weak and brittle bones (osteoporosis), Delayed skeletal maturation

Diagnosis

Biomarker and diagnostic research for monosomy X has been reported in the published literature.

Prognosis

Phenotype severity distribution: 21 very common features, 37 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 monosomy X.

79 publications have been identified in PubMed for monosomy X. Research spans Basic Science / Preclinical (23%), Case Report / Case Series (20%), and Diagnostic / Biomarker (18%).

Research Type	Count	% of Total
Laboratory research	18	23%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 8:36 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:99226

GARD

Genetic and Rare Diseases Info Center

GARD:19676

Questions for Your Care Team

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Kisho

monosomy X

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

monosomy X

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications