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ring chromosome 9 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ring chromosome 9

MONDO:0019905

Also known as:Chromosome 9 RingRing 9Ring chromosome type 9

Overview

Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.

Diagnosis

Biomarker and diagnostic research for ring chromosome 9 has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 ring chromosome 9.

45 publications have been identified in PubMed for ring chromosome 9. Research spans Basic Science / Preclinical (42%), Other (31%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Laboratory research	19	42%

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 8:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:96173

GARD

Genetic and Rare Diseases Info Center

GARD:1348

Questions for Your Care Team

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ring chromosome 9

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications