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distal tetrasomy 15q - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

distal tetrasomy 15q

MONDO:0013918

Also known as:distal tetrasomy type 15qtetrasomy 15(q25-qter)tetrasomy 15q26

Overview

ResearchLimited published research (3 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, Low muscle tone (hypotonia), and High palate; and very common findings: Arachnodactyly. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Global developmental delay, Hydrocephalus

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature, 7 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 distal tetrasomy 15q.

3 publications have been identified in PubMed for distal tetrasomy 15q. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).

Recent Publications

Mendlikova I (2026). [PMID: 41886128](https://pubmed.ncbi.nlm.nih.gov/41886128/). *Chromosome Res*. [Case Report / Case Series]
Finsterer J (2025). [PMID: 40772177](https://pubmed.ncbi.nlm.nih.gov/40772177/). *Cureus*. [Case Report / Case Series]
Lema Fernandez AG (2024). [PMID: 39604137](https://pubmed.ncbi.nlm.nih.gov/39604137/). *Genes, chromosomes & cancer*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614846

Orphanet

European rare disease database

Orphanet:314588

GARD

Genetic and Rare Diseases Info Center

GARD:17424

Questions for Your Care Team

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distal tetrasomy 15q

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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