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intellectual disability, X-linked 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Bilateral tonic-clonic seizure, Delayed speech and language development, Loss of previously acquired skills (developmental regression), and Atonic seizure and others; and sometimes findings: Seizure, Secondary microcephaly, Aggressive behavior, and Autistic behavior. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Poor speech, Bilateral tonic-clonic seizure, Delayed speech and language development
Eyes	1	Strabismus
Head and neck	1	Secondary microcephaly
Muscles	1	Generalized hypotonia

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

218 publications have been identified in PubMed for intellectual disability, X-linked 1. Kisho has analyzed 80 by research type. Research spans Basic Science / Preclinical (40%), Review / Meta-Analysis (26%), and Epidemiology / Natural History (11%).

Research Type	Count	% of Total
Laboratory research	32	40%
Research summaries	21	26%
Disease patterns and progression	9	11%
Patient case studies	8	10%
Clinical study results	5	6%
Testing and diagnosis research	2	3%
New treatment approaches	2	3%
Other research	1	1%

Recent Publications

Muenzer J (2026). [PMID: 41467650](https://pubmed.ncbi.nlm.nih.gov/41467650/). *N Engl J Med*. [Clinical Trial Publication]
Hilal ML (2025). [PMID: 39604505](https://pubmed.ncbi.nlm.nih.gov/39604505/). *Mol Psychiatry*. [Gene Therapy / Novel Therapeutics]
Parra A (2025). [PMID: 40344221](https://pubmed.ncbi.nlm.nih.gov/40344221/). *Clin Genet*. [Case Report / Case Series]
Gadban A (2025). [PMID: 40676228](https://pubmed.ncbi.nlm.nih.gov/40676228/). *Nat Genet*. [Review / Meta-Analysis]
Greenberg B (2025). [PMID: 39556016](https://pubmed.ncbi.nlm.nih.gov/39556016/). *N Engl J Med*. [Clinical Trial Publication]
Zhu G (2025). [PMID: 40210734](https://pubmed.ncbi.nlm.nih.gov/40210734/). *Sci Rep*. [Basic Science / Preclinical]
Savy C (2025). [PMID: 39865233](https://pubmed.ncbi.nlm.nih.gov/39865233/). *Cell Mol Biol Lett*. [Review / Meta-Analysis]
Zhang C (2025). [PMID: 39743596](https://pubmed.ncbi.nlm.nih.gov/39743596/). *Nature*. [Basic Science / Preclinical]
Brown JAR (2025). [PMID: 40101152](https://pubmed.ncbi.nlm.nih.gov/40101152/). *Genetics*. [Basic Science / Preclinical]
Hertzog A (2025). [PMID: 41093925](https://pubmed.ncbi.nlm.nih.gov/41093925/). *Sci Rep*. [Basic Science / Preclinical]

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intellectual disability, X-linked 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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GARD

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intellectual disability, X-linked 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team