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chromosome 17q11.2 deletion syndrome, 1.4Mb - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chromosome 17q11.2 deletion syndrome, 1.4Mb

MONDO:0013357

Also known as:17q11 microdeletion syndromeDel(17)(q11)MMFD

Overview

A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.

GeneticsSporadic (not inherited), Autosomal dominant

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 very common findings: Difficulty with thinking and memory (cognitive impairment), Cafe-au-lait spot, Hypertelorism, and Axillary freckling and others; and common findings: Large hands, Low muscle tone (hypotonia), Coarse facial features, and Focal T2 hyperintense basal ganglia lesion and others. 41 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Seizure, Difficulty with thinking and memory (cognitive impairment), Specific learning disability

Prognosis

Phenotype severity distribution: 6 very common features, 21 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 17q11.2 deletion syndrome, 1.4Mb.

2 publications have been identified in PubMed for chromosome 17q11.2 deletion syndrome, 1.4Mb. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Tritto V (2024). [PMID: 38874808](https://pubmed.ncbi.nlm.nih.gov/38874808/). *Hum Genet*. [Basic Science / Preclinical]
Garzon JP (2024). [PMID: 39022906](https://pubmed.ncbi.nlm.nih.gov/39022906/). *Am J Med Genet C Semin Med Genet*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613675

Orphanet

European rare disease database

Orphanet:137634 Orphanet:97685

GARD

Genetic and Rare Diseases Info Center

GARD:5408

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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chromosome 17q11.2 deletion syndrome, 1.4Mb

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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