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distal Xq28 microduplication syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

distal Xq28 microduplication syndrome

MONDO:0017404

Also known as:Xq28 Microduplicationdistal dup(X)q(28)distal trisomy Xq28

Overview

Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.

ResearchLimited published research (2 articles)

Prognosis

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 Xq28 microduplication syndrome.

2 publications have been identified in PubMed for distal Xq28 microduplication syndrome. Research spans Review / Meta-Analysis (100%).

Recent Publications

Zhang Y (2026). [PMID: 41622244](https://pubmed.ncbi.nlm.nih.gov/41622244/). *Mol Cytogenet*. [Review / Meta-Analysis]
Bonati MT (2024). [PMID: 38927613](https://pubmed.ncbi.nlm.nih.gov/38927613/). *Genes (Basel)*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:293939

GARD

Genetic and Rare Diseases Info Center

GARD:17350

Questions for Your Care Team

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distal Xq28 microduplication syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team