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chromosome 16q12 duplication syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chromosome 16q12 duplication syndrome

MONDO:0859210

Overview

GeneticsAutosomal dominant

OnsetADULT

ResearchLimited published research (2 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: Tritanomaly; and very common findings: Reduced visual acuity. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Retinal pigment epithelial mottling, Temporal optic disc pallor, Cataract

Age of onset: adulthood.

Explore clinical features

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common 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 16q12 duplication syndrome.

2 publications have been identified in PubMed for chromosome 16q12 duplication syndrome. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Tang D (2024). [PMID: 39716170](https://pubmed.ncbi.nlm.nih.gov/39716170/). *BMC Med Genomics*. [Case Report / Case Series]
Ram M (2024). [PMID: 39723112](https://pubmed.ncbi.nlm.nih.gov/39723112/). *Pharmgenomics Pers Med*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:08 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619649

Questions for Your Care Team

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chromosome 16q12 duplication syndrome

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team