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chromosome 17p13.1 deletion syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chromosome 17p13.1 deletion syndrome

MONDO:0013415

Also known as:17p13.1 deletion syndrome

Overview

GeneticsAutosomal dominant

ResearchLimited published research (4 articles)

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: Global developmental delay; and common findings: Epicanthus, Low muscle tone (hypotonia), Intellectual disability, and Telecanthus. 66 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Hydrocephalus, Intellectual disability, Absent speech

Diagnosis

Biomarker and diagnostic research for chromosome 17p13.1 deletion syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 4 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 17p13.1 deletion syndrome.

4 publications have been identified in PubMed for chromosome 17p13.1 deletion syndrome. Research spans Diagnostic / Biomarker (50%), Review / Meta-Analysis (25%), and Epidemiology / Natural History (25%).

Recent Publications

Shah MV (2025). [PMID: 40335478](https://pubmed.ncbi.nlm.nih.gov/40335478/). *Blood cancer journal*. [Epidemiology / Natural History]
Mohamed AM (2025). [PMID: 40074450](https://pubmed.ncbi.nlm.nih.gov/40074450/). *Journal, genetic engineering & biotechnology*. [Diagnostic / Biomarker]
van Kampen F (2025). [PMID: 39966556](https://pubmed.ncbi.nlm.nih.gov/39966556/). *Oncogene*. [Review / Meta-Analysis]
de Boer EN (2024). [PMID: 38605095](https://pubmed.ncbi.nlm.nih.gov/38605095/). *Scientific reports*. [Diagnostic / Biomarker]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 12:58 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613776

Questions for Your Care Team

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chromosome 17p13.1 deletion syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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