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chromosome 14q11-q22 deletion syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chromosome 14q11-q22 deletion syndrome

MONDO:0013272

Also known as:14q11.2 microdeletion syndromeDel(14)(q11.2)chromosome 14q11-q22 deletion syndrome, isolated cases

Overview

14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.

GeneticsSporadic (not inherited)

ResearchLimited published research (2 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 common findings: Low muscle tone (hypotonia), Microcephaly, Feeding difficulties, and Global developmental delay and others; and sometimes findings: Delayed CNS myelination, Short nose, Gastroesophageal reflux, and Unilateral cryptorchidism and others. 62 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Inability to walk, Seizure, Absent speech

Diagnosis

Biomarker and diagnostic research for chromosome 14q11-q22 deletion syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 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 chromosome 14q11-q22 deletion syndrome.

2 publications have been identified in PubMed for chromosome 14q11-q22 deletion syndrome. Research spans Diagnostic / Biomarker (50%) and Case Report / Case Series (50%).

Recent Publications

Bonati MT (2024). [PMID: 38927613](https://pubmed.ncbi.nlm.nih.gov/38927613/). *Genes*. [Case Report / Case Series]
Wójtowicz A (2024). [PMID: 39410589](https://pubmed.ncbi.nlm.nih.gov/39410589/). *Diagnostics (Basel, Switzerland)*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613457

Orphanet

European rare disease database

Orphanet:261120

GARD

Genetic and Rare Diseases Info Center

GARD:17241

Questions for Your Care Team

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chromosome 14q11-q22 deletion syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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