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non-distal trisomy 9q - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

non-distal trisomy 9q

MONDO:0019890

Also known as:non-distal duplication 9qnon-distal trisomy type 9qnon-telomeric trisomy 9q

Overview

Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.

ResearchLimited published research (1 article)

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 non-distal trisomy 9q.

1 publication has been identified in PubMed for non-distal trisomy 9q. Research spans Basic Science / Preclinical (100%).

Recent Publications

Wright CA (2025). [PMID: 39924478](https://pubmed.ncbi.nlm.nih.gov/39924478/). *Mol Cytogenet*. [Basic Science / Preclinical]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 3:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:96112

GARD

Genetic and Rare Diseases Info Center

GARD:19323

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non-distal trisomy 9q

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team