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ring chromosome 19 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ring chromosome 19

MONDO:0015435

Also known as:Ring chromosome type 19R19Ring 19

Overview

Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.

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 sometimes findings: Microcephaly, Hypertelorism, Micrognathia, and Posteriorly rotated ears and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Autistic behavior, Intellectual disability, Global developmental delay

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 19.

64 publications have been identified in PubMed for ring chromosome 19. Research spans Basic Science / Preclinical (89%), Case Report / Case Series (3%), and Other (2%).

Research Type	Count	% of Total
Laboratory research	57	89%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1443

GARD

Genetic and Rare Diseases Info Center

GARD:1333

Questions for Your Care Team

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Kisho

ring chromosome 19

Overview

Clinical Presentation

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 19

Overview

Clinical Presentation

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