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intellectual disability, autosomal dominant 41 (MRD41) - Clinical Profile, Genes & Research | Kisho | Kisho

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 disability, autosomal dominant 41.

12 publications have been identified in PubMed for intellectual disability, autosomal dominant 41. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (17%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Patient case studies	6	50%
Research summaries	2	17%
Disease patterns and progression	2	17%
Laboratory research	1	8%
New treatment approaches	1	8%

Recent Publications

Aldurayhim F (2026). [PMID: 42057324](https://pubmed.ncbi.nlm.nih.gov/42057324/). *Am J Med Genet A*. [Gene Therapy / Novel Therapeutics]
Wang Z (2026). [PMID: 41916888](https://pubmed.ncbi.nlm.nih.gov/41916888/). *Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics*. [Review / Meta-Analysis]
Pan X (2026). [PMID: 41764152](https://pubmed.ncbi.nlm.nih.gov/41764152/). *Journal of molecular medicine (Berlin, Germany)*. [Review / Meta-Analysis]
Donaldson S (2026). [PMID: 42186234](https://pubmed.ncbi.nlm.nih.gov/42186234/). *Arch Clin Neuropsychol*. [Case Report / Case Series]
Xie Y (2025). [PMID: 41444645](https://pubmed.ncbi.nlm.nih.gov/41444645/). *Human genomics*. [Case Report / Case Series]
Tzetis M (2025). [PMID: 40428343](https://pubmed.ncbi.nlm.nih.gov/40428343/). *Genes*. [Case Report / Case Series]
Henry OJ (2025). [PMID: 40183601](https://pubmed.ncbi.nlm.nih.gov/40183601/). *Epilepsia*. [Epidemiology / Natural History]
Wei L (2025). [PMID: 40426223](https://pubmed.ncbi.nlm.nih.gov/40426223/). *BMC medical genomics*. [Case Report / Case Series]
Wisch JK (2024). [PMID: 38631766](https://pubmed.ncbi.nlm.nih.gov/38631766/). *The Lancet. Neurology*. [Epidemiology / Natural History]
Sobrinho LMF (2024). [PMID: 39629096](https://pubmed.ncbi.nlm.nih.gov/39629096/). *Molecular genetics and metabolism reports*. [Case Report / Case Series]

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Seizure, Global developmental delay, Epileptic spasm
Muscles	1	Low muscle tone (hypotonia)

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intellectual disability, autosomal dominant 41

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intellectual disability, autosomal dominant 41

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