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 disability, autosomal dominant 33 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Decreased body weight, Microcephaly, and Intellectual disability; and very common findings: Short stature. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	2	Sideways curvature of the spine (scoliosis), Delayed skeletal maturation
Head and neck	1	Microcephaly
Growth and development	1	Short stature
Eyes	1	Amblyopia
Brain and nerves	1	Intellectual disability

Age of onset: at birth.

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 33.

10 publications have been identified in PubMed for intellectual disability, autosomal dominant 33. Research spans Review / Meta-Analysis (30%), Case Report / Case Series (30%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Research summaries	3	30%
Patient case studies	3	30%
Laboratory research	2	20%
Disease patterns and progression	2	20%

Recent Publications

Li M (2026). [PMID: 41710014](https://pubmed.ncbi.nlm.nih.gov/41710014/). *Front Pediatr*. [Review / Meta-Analysis]
Samara AA (2026). [PMID: 41595474](https://pubmed.ncbi.nlm.nih.gov/41595474/). *Genes (Basel)*. [Case Report / Case Series]
Pang N (2025). [PMID: 40598568](https://pubmed.ncbi.nlm.nih.gov/40598568/). *BMC Med*. [Epidemiology / Natural History]
Schmid CM (2025). [PMID: 39668183](https://pubmed.ncbi.nlm.nih.gov/39668183/). *Eur J Hum Genet*. [Basic Science / Preclinical]
Leduc F (2025). [PMID: 40348827](https://pubmed.ncbi.nlm.nih.gov/40348827/). *Eur J Hum Genet*. [Review / Meta-Analysis]
Pizzol A (2025). [PMID: 39494522](https://pubmed.ncbi.nlm.nih.gov/39494522/). *Am J Med Genet A*. [Case Report / Case Series]
Jimoh IJ (2025). [PMID: 39978794](https://pubmed.ncbi.nlm.nih.gov/39978794/). *Clin Genet*. [Epidemiology / Natural History]
Wang C (2024). [PMID: 39432612](https://pubmed.ncbi.nlm.nih.gov/39432612/). *Medicine (Baltimore)*. [Review / Meta-Analysis]
He HL (2024). [PMID: 39148392](https://pubmed.ncbi.nlm.nih.gov/39148392/). *Zhongguo Dang Dai Er Ke Za Zhi*. [Case Report / Case Series]
Foglia M (2024). [PMID: 39453535](https://pubmed.ncbi.nlm.nih.gov/39453535/). *Cell Mol Life Sci*. [Basic Science / Preclinical]

Kisho

intellectual disability, autosomal dominant 33

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 33

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