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intellectual disability, autosomal recessive 13 - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Seizure, Intellectual disability, Delayed speech and language development
Head and neck	3	Secondary microcephaly, Mild microcephaly, Cleft upper lip
Arms and legs	2	Recurrent hand flapping, Slender finger

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 recessive 13.

31 publications have been identified in PubMed for intellectual disability, autosomal recessive 13. Research spans Case Report / Case Series (61%), Review / Meta-Analysis (19%), and Epidemiology / Natural History (6%).

Research Type	Count	% of Total
Patient case studies	19	61%
Research summaries	6	19%
Disease patterns and progression	2	6%
Testing and diagnosis research	1	3%
Clinical study results	1	3%
Laboratory research	1	3%
New treatment approaches	1	3%

Recent Publications

Tao W (2026). [PMID: 41873838](https://pubmed.ncbi.nlm.nih.gov/41873838/). *Hum Mol Genet*. [Case Report / Case Series]
Yeow D (2026). [PMID: 41353788](https://pubmed.ncbi.nlm.nih.gov/41353788/). *Ann Clin Transl Neurol*. [Case Report / Case Series]
Ek M (2026). [PMID: 41514368](https://pubmed.ncbi.nlm.nih.gov/41514368/). *Genome Med*. [Diagnostic / Biomarker]
Aynekin B (2026). [PMID: 41672381](https://pubmed.ncbi.nlm.nih.gov/41672381/). *Biochim Biophys Acta Mol Basis Dis*. [Basic Science / Preclinical]
Ahmad S (2026). [PMID: 41649149](https://pubmed.ncbi.nlm.nih.gov/41649149/). *Clin Dysmorphol*. [Case Report / Case Series]
Al-Shahrani H (2026). [PMID: 41897354](https://pubmed.ncbi.nlm.nih.gov/41897354/). *Biomolecules*. [Case Report / Case Series]
Kovalskaia VA (2026). [PMID: 42271513](https://pubmed.ncbi.nlm.nih.gov/42271513/). *Hum Genomics*. [Case Report / Case Series]
Zhu L (2026). [PMID: 41721346](https://pubmed.ncbi.nlm.nih.gov/41721346/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Borgione E (2025). [PMID: 40562130](https://pubmed.ncbi.nlm.nih.gov/40562130/). *Gene*. [Case Report / Case Series]
Iskafi R (2025). [PMID: 39840888](https://pubmed.ncbi.nlm.nih.gov/39840888/). *J Investig Med High Impact Case Rep*. [Review / Meta-Analysis]

Kisho

intellectual disability, autosomal recessive 13

Overview

Clinical Presentation

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

intellectual disability, autosomal recessive 13

Overview

Clinical Presentation

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications