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

Rare Disease

paternal 14q32.2 microdeletion syndrome

MONDO:0016780

Also known as:paternal del(14)(q32.2)paternal monosomy 14q32.2

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 Short foot and others; and common findings: Neonatal hypotonia, Intrauterine growth retardation, and Prominent forehead. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Delayed speech and language development, Intellectual disability, Poor fine motor coordination

Prognosis

Phenotype severity distribution: 6 very common features, 3 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 microdeletion syndrome.

3 publications have been identified in PubMed for paternal 14q32.2 microdeletion syndrome. Research spans Case Report / Case Series (67%) and Epidemiology / Natural History (33%).

Recent Publications

Workalemahu T (2026). [PMID: 41229114](https://pubmed.ncbi.nlm.nih.gov/41229114/). *HGG advances*. [Epidemiology / Natural History]
Black J (2025). [PMID: 40110997](https://pubmed.ncbi.nlm.nih.gov/40110997/). *American journal of medical genetics. Part A*. [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 20, 2026, 1:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:254525

GARD

Genetic and Rare Diseases Info Center

GARD:17220

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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paternal 14q32.2 microdeletion 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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