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maternal uniparental disomy of chromosome 14 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

maternal uniparental disomy of chromosome 14

MONDO:0019915

Also known as:UPD(14)matmaternal uniparental disomy of chromosome type 14

Overview

Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).

ResearchLimited published research (9 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: Precocious puberty, Low muscle tone (hypotonia), Motor delay, and Short foot and others; and common findings: Delayed speech and language development, Intellectual disability, Joint hypermobility, and Intrauterine growth retardation and others. 35 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Delayed speech and language development, Intellectual disability, Depressed nasal bridge

Prognosis

Phenotype severity distribution: 6 very common features, 9 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 maternal uniparental disomy of chromosome 14.

11 publications have been identified in PubMed for maternal uniparental disomy of chromosome 14. Research spans Case Report / Case Series (44%), Clinical Trial Publication (22%), and Basic Science / Preclinical (22%).

Recent Publications

Molinari S (2026). [PMID: 40977560](https://pubmed.ncbi.nlm.nih.gov/40977560/). *Am J Med Genet A*. [Basic Science / Preclinical]
Wang X (2026). [PMID: 42026594](https://pubmed.ncbi.nlm.nih.gov/42026594/). *BMC Pediatr*. [Clinical Trial Publication]
Iwanishi M (2025). [PMID: 38749734](https://pubmed.ncbi.nlm.nih.gov/38749734/). *Internal medicine (Tokyo, Japan)*. [Case Report / Case Series]
Braga BL (2025). [PMID: 39586716](https://pubmed.ncbi.nlm.nih.gov/39586716/). *Clin Genet*. [Review / Meta-Analysis]
Olsen T (2025). [PMID: 39667803](https://pubmed.ncbi.nlm.nih.gov/39667803/). *Clinical genetics*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:96184

GARD

Genetic and Rare Diseases Info Center

GARD:16848

Questions for Your Care Team

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maternal uniparental disomy of chromosome 14

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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