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chromosome 11p13 deletion syndrome, distal - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chromosome 11p13 deletion syndrome, distal

MONDO:0014825

Overview

GeneticsAutosomal dominant

ResearchLimited published research (1 article)

Clinical Presentation

Features include sometimes findings: Aniridia. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Delayed speech and language development, Seizure, Global developmental delay

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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 11p13 deletion syndrome, distal.

1 publication has been identified in PubMed for chromosome 11p13 deletion syndrome, distal. Research spans Case Report / Case Series (100%).

Recent Publications

Majjigudda RA (2024). [PMID: 39600756](https://pubmed.ncbi.nlm.nih.gov/39600756/). *Cureus*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616902

Questions for Your Care Team

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chromosome 11p13 deletion syndrome, distal

Overview

Clinical Presentation

Explore clinical features

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team