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syndromic X-linked intellectual disability 14 - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Head and neck	6	High palate, Macrocephaly, Narrow face
Brain and nerves	4	Mild intellectual disability, Intellectual disability, Autistic behavior
Bones and joints	2	Sideways curvature of the spine (scoliosis), Excessive outward curvature of the upper spine (kyphosis)
Muscles	1	Low muscle tone (hypotonia)
Digestive system	1	Chronic constipation
Growth and development	1	Tall stature
Arms and legs	1	Long foot

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 syndromic X-linked intellectual disability 14.

84 publications have been identified in PubMed for syndromic X-linked intellectual disability 14. Research spans Basic Science / Preclinical (31%), Case Report / Case Series (18%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Laboratory research	26	31%
Patient case studies	15	18%
Disease patterns and progression	15	18%
Testing and diagnosis research	8	10%
Research summaries	8	10%
Clinical study results	8	10%
New treatment approaches	3	4%
Other research	1	1%

Recent Publications

Duan H (2026). [PMID: 42244324](https://pubmed.ncbi.nlm.nih.gov/42244324/). *Zhong Nan Da Xue Xue Bao Yi Xue Ban*. [Review / Meta-Analysis]
Liang Q (2026). [PMID: 41198829](https://pubmed.ncbi.nlm.nih.gov/41198829/). *J Hum Genet*. [Basic Science / Preclinical]
Maltman N (2026). [PMID: 41403372](https://pubmed.ncbi.nlm.nih.gov/41403372/). *Autism*. [Epidemiology / Natural History]
Zhao L (2026). [PMID: 41960028](https://pubmed.ncbi.nlm.nih.gov/41960028/). *Front Pediatr*. [Case Report / Case Series]
Patel K (2026). [PMID: 40820925](https://pubmed.ncbi.nlm.nih.gov/40820925/). *J Pediatr Orthop*. [Clinical Trial Publication]
Lubbers K (2026). [PMID: 39395123](https://pubmed.ncbi.nlm.nih.gov/39395123/). *J Autism Dev Disord*. [Basic Science / Preclinical]
Boeri S (2026). [PMID: 41724124](https://pubmed.ncbi.nlm.nih.gov/41724124/). *Epilepsy Behav*. [Case Report / Case Series]
Thurman AJ (2026). [PMID: 39251531](https://pubmed.ncbi.nlm.nih.gov/39251531/). *J Autism Dev Disord*. [Diagnostic / Biomarker]
Martinez Diaz D (2026). [PMID: 40971552](https://pubmed.ncbi.nlm.nih.gov/40971552/). *J Child Neurol*. [Basic Science / Preclinical]
Byiers B (2026). [PMID: 41340519](https://pubmed.ncbi.nlm.nih.gov/41340519/). *J Intellect Disabil Res*. [Diagnostic / Biomarker]

Kisho

syndromic X-linked intellectual disability 14

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

syndromic X-linked intellectual disability 14

Overview

Clinical Presentation

Explore clinical features

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