Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

intellectual developmental disorder, X-linked 111 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, X-linked 111

MONDO:0957203

Overview

GeneticsX-linked · SLITRK2 (chr X)

ResearchLimited published research (7 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 always present findings: Global developmental delay and Intellectual disability; and very common findings: Anxiety. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	15	Delayed speech and language development, Absent speech, Dystonia

Genetic Landscape

SLITRK2 function has not been fully characterized.

Intellectual developmental disorder, X-linked 111 is associated with mutations in the SLITRK2 gene on chromosome X.

Diagnosis

Genetic testing for SLITRK2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 7 common features.

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 intellectual developmental disorder, X-linked 111.

7 publications have been identified in PubMed for intellectual developmental disorder, X-linked 111. Research spans Case Report / Case Series (29%), Basic Science / Preclinical (29%), and Review / Meta-Analysis (14%).

Recent Publications

Boelaert K (2026). [PMID: 41508830](https://pubmed.ncbi.nlm.nih.gov/41508830/). *J Clin Endocrinol Metab*. [Review / Meta-Analysis]
Ordemann GJ (2026). [PMID: 40908583](https://pubmed.ncbi.nlm.nih.gov/40908583/). *Exp Physiol*. [Basic Science / Preclinical]
Verhoeven WMA (2025). [PMID: 39845198](https://pubmed.ncbi.nlm.nih.gov/39845198/). *Int Med Case Rep J*. [Case Report / Case Series]
Klusek J (2025). [PMID: 40418066](https://pubmed.ncbi.nlm.nih.gov/40418066/). *Am J Med Genet B Neuropsychiatr Genet*. [Epidemiology / Natural History]
Jeanne M (2025). [PMID: 39798962](https://pubmed.ncbi.nlm.nih.gov/39798962/). *J Med Genet*. [Clinical Trial Publication]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:301107

Questions for Your Care Team

→Should female family members consider carrier screening for SLITRK2?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

intellectual developmental disorder, X-linked 111

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features