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ring chromosome 20 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ring chromosome 20

MONDO:0015436

Also known as:ring chromosome 20 syndromering chromosome type 20R20

Overview

Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioral problems. In rare cases, brain, kidney or heart malformations may be present.

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: EEG abnormality and Non-convulsive status epilepticus without coma; and common findings: Atypical behavior, Mental deterioration, Focal motor seizure, and Nocturnal seizures and others. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Non-convulsive status epilepticus without coma, Atypical behavior, Mental deterioration

Diagnosis

Biomarker and diagnostic research for ring chromosome 20 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 very common features, 5 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.

No clinical trials have been registered for ring chromosome 20.

18 publications have been identified in PubMed for ring chromosome 20. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (22%), and Basic Science / Preclinical (22%).

Research Type	Count	% of Total
Research summaries	6	33%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 8:25 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1444

GARD

Genetic and Rare Diseases Info Center

GARD:1334

Questions for Your Care Team

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Kisho

ring chromosome 20

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

ring chromosome 20

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications