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distal 7q11.23 microdeletion syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

distal 7q11.23 microdeletion syndrome

MONDO:0013393

Also known as:chromosome 7q11.23 deletion syndrome, distal, 1.2mbdistal del(7)(q11.23)distal monosomy 7q11.23

Overview

Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).

ResearchLimited published research (8 articles)

Prognosis

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 distal 7q11.23 microdeletion syndrome.

9 publications have been identified in PubMed for distal 7q11.23 microdeletion syndrome. Research spans Case Report / Case Series (75%), Review / Meta-Analysis (13%), and Epidemiology / Natural History (13%).

Recent Publications

Higginbotham A (2026). [PMID: 42184435](https://pubmed.ncbi.nlm.nih.gov/42184435/). *J Neurosurg Case Lessons*. [Case Report / Case Series]
Chen D (2025). [PMID: 40846386](https://pubmed.ncbi.nlm.nih.gov/40846386/). *JACC Case Rep*. [Case Report / Case Series]
Bailey DM (2025). [PMID: 40714909](https://pubmed.ncbi.nlm.nih.gov/40714909/). *Exp Physiol*. [Case Report / Case Series]
Williams A (2025). [PMID: 39872330](https://pubmed.ncbi.nlm.nih.gov/39872330/). *JSES Rev Rep Tech*. [Case Report / Case Series]
Baccouche BM (2025). [PMID: 40592800](https://pubmed.ncbi.nlm.nih.gov/40592800/). *Cardiol Young*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613729

Orphanet

European rare disease database

Orphanet:254351

GARD

Genetic and Rare Diseases Info Center

GARD:17218

Questions for Your Care Team

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distal 7q11.23 microdeletion syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team