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chromosome 15q25 deletion syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chromosome 15q25 deletion syndrome

MONDO:0013672

Overview

GeneticsAutosomal dominant

ResearchLimited published research (1 article)

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 common findings: Congenital diaphragmatic hernia, Hypoplasia of the corpus callosum, Global developmental delay, and Short neck and others; and sometimes findings: Dextrocardia, Inguinal hernia, Ventricular septal defect, and Polysplenia and others. 32 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	3	Abnormal cardiac septum morphology, Ventricular septal defect, Coronary artery fistula

Diagnosis

Biomarker and diagnostic research for chromosome 15q25 deletion syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 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 chromosome 15q25 deletion syndrome.

1 publication has been identified in PubMed for chromosome 15q25 deletion syndrome. Research spans Diagnostic / Biomarker (100%).

Recent Publications

Ye Y (2025). [PMID: 41244984](https://pubmed.ncbi.nlm.nih.gov/41244984/). *Front Genet*. [Diagnostic / Biomarker]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614294

Questions for Your Care Team

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Kisho

chromosome 15q25 deletion syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Roles of insulin-like growth factor 1 receptor in growth regulation in 15q26 deletion and duplication syndrome.

chromosome 15q25 deletion syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Roles of insulin-like growth factor 1 receptor in growth regulation in 15q26 deletion and duplication syndrome.