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chromosome 17q23.1-q23.2 deletion syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chromosome 17q23.1-q23.2 deletion syndrome

MONDO:0013238

Also known as:17q23.1-q23.2 microdeletion syndrome17q23.1q23.2 microdeletion syndromeDel(17)(q23.1q23.2)

Overview

17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.

GeneticsSporadic (not inherited)

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 always present findings: Global developmental delay; and very common findings: Long fingers, Long toe, and Slender finger. 25 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Aggressive behavior, Global developmental delay, Depressed nasal bridge

Prognosis

Phenotype severity distribution: 1 always present feature, 3 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 chromosome 17q23.1-q23.2 deletion syndrome.

1 publication has been identified in PubMed for chromosome 17q23.1-q23.2 deletion syndrome. Research spans Review / Meta-Analysis (100%).

Recent Publications

Wu X (2026). [PMID: 41987093](https://pubmed.ncbi.nlm.nih.gov/41987093/). *BMC Pediatr*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613355

Orphanet

European rare disease database

Orphanet:261279

GARD

Genetic and Rare Diseases Info Center

GARD:10936

Questions for Your Care Team

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chromosome 17q23.1-q23.2 deletion syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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