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maternal uniparental disomy of chromosome 9 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

maternal uniparental disomy of chromosome 9

MONDO:0019914

Also known as:UPD(9)matmaternal uniparental disomy of chromosome type 9

Overview

Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.

ResearchLimited published research (4 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 very common findings: Long face, Facial asymmetry, Micrognathia, and Low-set ears and others; and sometimes findings: Congenital hypothyroidism and Retinal dysplasia.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Kyphoscoliosis, Abnormal vertebral morphology, Osteochondrosis

Prognosis

Phenotype severity distribution: 19 very 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 maternal uniparental disomy of chromosome 9.

4 publications have been identified in PubMed for maternal uniparental disomy of chromosome 9. Research spans Case Report / Case Series (100%).

Recent Publications

Sperelakis-Beedham B (2025). [PMID: 39496895](https://pubmed.ncbi.nlm.nih.gov/39496895/). *Eur J Hum Genet*. [Case Report / Case Series]
Okonkwo OO (2025). [PMID: 40001246](https://pubmed.ncbi.nlm.nih.gov/40001246/). *Mol Cytogenet*. [Case Report / Case Series]
Huang Y (2025). [PMID: 40799956](https://pubmed.ncbi.nlm.nih.gov/40799956/). *Pract Lab Med*. [Case Report / Case Series]
Chen CP (2024). [PMID: 39004483](https://pubmed.ncbi.nlm.nih.gov/39004483/). *Taiwan J Obstet Gynecol*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:96183

GARD

Genetic and Rare Diseases Info Center

GARD:19335

Questions for Your Care Team

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maternal uniparental disomy of chromosome 9

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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