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maternal 14q32.2 hypermethylation syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

maternal 14q32.2 hypermethylation syndrome

MONDO:0016783

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 very common findings: Mild intellectual disability, Global developmental delay, Polyhydramnios, and Thoracic hypoplasia and others; and common findings: Low muscle tone (hypotonia), Large for gestational age, Diastasis recti, and Poor suck and others. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Mild intellectual disability, Global developmental delay, Delayed gross motor development

Prognosis

Phenotype severity distribution: 7 very common features, 5 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 14q32.2 hypermethylation syndrome.

3 publications have been identified in PubMed for maternal 14q32.2 hypermethylation syndrome. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).

Recent Publications

Urakawa T (2025). [PMID: 41254794](https://pubmed.ncbi.nlm.nih.gov/41254794/). *Genome medicine*. [Review / Meta-Analysis]
Panchenko E (2025). [PMID: 40943441](https://pubmed.ncbi.nlm.nih.gov/40943441/). *International journal of molecular sciences*. [Case Report / Case Series]
Baena N (2024). [PMID: 38715103](https://pubmed.ncbi.nlm.nih.gov/38715103/). *Clinical epigenetics*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 11:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:254534

GARD

Genetic and Rare Diseases Info Center

GARD:17223

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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maternal 14q32.2 hypermethylation syndrome

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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