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ring chromosome 14 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ring chromosome 14

MONDO:0014708

Also known as:Chromosome 14 RingRing chromosome type 14ring chromosome 14 syndrome, isolated cases

Find Clinical TrialsTrials

Overview

Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.

GeneticsSporadic (not inherited)

Clinical Trials1 registered

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: Focal impaired awareness seizure, Blepharophimosis, Depressed nasal ridge, and Generalized-onset seizure and others; and very common findings: Intellectual disability and Seizure. 44 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Poor speech, Focal impaired awareness seizure, Intellectual disability

Prognosis

Phenotype severity distribution: 7 always present features, 2 very common features, 9 common features.

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.

1 clinical trial registered. Interventions under study include gene therapy. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

11 publications have been identified in PubMed for ring chromosome 14. Research spans Case Report / Case Series (45%), Other (9%), and Review / Meta-Analysis (9%).

Research Type	Count	% of Total
Patient case studies	5	45%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616606

Orphanet

European rare disease database

Orphanet:1440

GARD

Genetic and Rare Diseases Info Center

GARD:6072

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→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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Kisho

ring chromosome 14

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

ring chromosome 14

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications