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N syndrome (NSX) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

N syndrome

MONDO:0010686

Also known as:NSXintellectual disability, malformations, chromosome breakage, and development of T-cell leukaemiaintellectual disability, malformations, chromosome breakage, and development of T-cell leukemia

Overview

N syndrome is characterized by intellectual deficit, deafness, ocular anomalies, T-cell leukemia, cryptorchidism, hypospadias and spasticity.

GeneticsX-linked

ResearchLimited published research (4 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: Neoplasm, Hearing loss (hearing impairment), Leukemia, and Abnormality of chromosome stability and 5 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Spasticity, Intellectual disability
Neoplasm

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 N syndrome.

4 publications have been identified in PubMed for N syndrome. Research spans Other (25%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

Devaranavadagi RA (2025). [PMID: 40804560](https://pubmed.ncbi.nlm.nih.gov/40804560/). *Indian J Pediatr*. [Other]
Yifu P (2024). [PMID: 39039898](https://pubmed.ncbi.nlm.nih.gov/39039898/). *Gynecol Endocrinol*. [Review / Meta-Analysis]
Milusheva M (2024). [PMID: 39064953](https://pubmed.ncbi.nlm.nih.gov/39064953/). *Molecules*. [Gene Therapy / Novel Therapeutics]
Yadegari F (2024). [PMID: 39055085](https://pubmed.ncbi.nlm.nih.gov/39055085/). *Clin Case Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:310465

Orphanet

European rare disease database

Orphanet:2608

GARD

Genetic and Rare Diseases Info Center

GARD:3902

Questions for Your Care Team

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N syndrome

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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