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paternal 14q32.2 hypomethylation syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

paternal 14q32.2 hypomethylation syndrome

MONDO:0016782

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: Delayed speech and language development, Low muscle tone (hypotonia), Motor delay, and Joint hypermobility and others; and common findings: Precocious puberty, Obesity, Postnatal growth retardation, and Prominent forehead and others. 28 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Delayed speech and language development, Autistic behavior, Intellectual disability

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 paternal 14q32.2 hypomethylation syndrome.

3 publications have been identified in PubMed for paternal 14q32.2 hypomethylation syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Ogawa T (2025). [PMID: 39693239](https://pubmed.ncbi.nlm.nih.gov/39693239/). *J Clin Endocrinol Metab*. [Case Report / Case Series]
Iwanishi M (2025). [PMID: 38749734](https://pubmed.ncbi.nlm.nih.gov/38749734/). *Intern Med*. [Case Report / Case Series]
Panchenko E (2025). [PMID: 40943441](https://pubmed.ncbi.nlm.nih.gov/40943441/). *Int J Mol Sci*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 4:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:254531

GARD

Genetic and Rare Diseases Info Center

GARD:17222

Questions for Your Care Team

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paternal 14q32.2 hypomethylation 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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