Kisho

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intellectual disability, autosomal dominant 43 - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Dystonia, Seizure, Ataxia
Digestive system	3	Gastroesophageal reflux, Feeding difficulties, Chronic constipation
Head and neck	3	Microcephaly, Thin upper lip vermilion, High palate
Muscles	2	Low muscle tone (hypotonia), Frontal cortical atrophy
Arms and legs	1	Tapered finger
Growth and development	1	Failure to thrive

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 43.

11 publications have been identified in PubMed for intellectual disability, autosomal dominant 43. Research spans Case Report / Case Series (55%), Epidemiology / Natural History (27%), and Review / Meta-Analysis (9%).

Research Type	Count	% of Total
Patient case studies	6	55%
Disease patterns and progression	3	27%
Research summaries	1	9%
Laboratory research	1	9%

Recent Publications

Pan X (2026). [PMID: 41764152](https://pubmed.ncbi.nlm.nih.gov/41764152/). *Journal of molecular medicine (Berlin, Germany)*. [Epidemiology / Natural History]
Zhu Z (2026). [PMID: 41808101](https://pubmed.ncbi.nlm.nih.gov/41808101/). *BMC Pediatr*. [Case Report / Case Series]
Xuan X (2026). [PMID: 42091191](https://pubmed.ncbi.nlm.nih.gov/42091191/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Manav Yiğit Z (2026). [PMID: 41320952](https://pubmed.ncbi.nlm.nih.gov/41320952/). *Balkan medical journal*. [Basic Science / Preclinical]
Spirito G (2026). [PMID: 41629344](https://pubmed.ncbi.nlm.nih.gov/41629344/). *NPJ Genom Med*. [Epidemiology / Natural History]
Wang Z (2026). [PMID: 41916888](https://pubmed.ncbi.nlm.nih.gov/41916888/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]
Wang F (2025). [PMID: 40123818](https://pubmed.ncbi.nlm.nih.gov/40123818/). *International journal of general medicine*. [Case Report / Case Series]
D'Incal CP (2025). [PMID: 41214838](https://pubmed.ncbi.nlm.nih.gov/41214838/). *Clinical epigenetics*. [Case Report / Case Series]
Mitsutake A (2024). [PMID: 39730866](https://pubmed.ncbi.nlm.nih.gov/39730866/). *Cerebellum (London, England)*. [Case Report / Case Series]
Dolu MH (2024). [PMID: 39051604](https://pubmed.ncbi.nlm.nih.gov/39051604/). *Journal of child neurology*. [Case Report / Case Series]

Kisho

intellectual disability, autosomal dominant 43

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

intellectual disability, autosomal dominant 43

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team