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intellectual disability, autosomal recessive 18 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Profound intellectual disability, Sleep disturbance, Hypoplasia of the pons, and Irritability and others; and common findings: Dystonia, Thin corpus callosum, Ventricular septal defect, and Choreoathetosis and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Dystonia, Profound intellectual disability, Irritability
Heart and blood vessels	2	Ventricular septal defect, Atrial septal defect
Muscles	1	Axial hypotonia
Head and neck	1	Microcephaly
Digestive system	1	Feeding difficulties

Age of onset: at birth, infancy.

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 18.

133 publications have been identified in PubMed for intellectual disability, autosomal recessive 18. Kisho has analyzed 105 by research type. Research spans Review / Meta-Analysis (49%), Basic Science / Preclinical (16%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Research summaries	51	49%
Laboratory research	17	16%
Disease patterns and progression	16	15%
Patient case studies	12	11%
Clinical study results	6	6%
Testing and diagnosis research	2	2%
New treatment approaches	1	1%

Recent Publications

Ahmad S (2026). [PMID: 41649149](https://pubmed.ncbi.nlm.nih.gov/41649149/). *Clin Dysmorphol*. [Case Report / Case Series]
Ryvlin P (2026). [PMID: 41735792](https://pubmed.ncbi.nlm.nih.gov/41735792/). *Curr Opin Neurol*. [Review / Meta-Analysis]
Jones H (2026). [PMID: 42123950](https://pubmed.ncbi.nlm.nih.gov/42123950/). *Nutrients*. [Review / Meta-Analysis]
Ek M (2026). [PMID: 41514368](https://pubmed.ncbi.nlm.nih.gov/41514368/). *Genome Med*. [Basic Science / Preclinical]
Ahmad B (2026). [PMID: 42249392](https://pubmed.ncbi.nlm.nih.gov/42249392/). *BMC Neurol*. [Epidemiology / Natural History]
Zhu L (2026). [PMID: 41721346](https://pubmed.ncbi.nlm.nih.gov/41721346/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Dudley AM (2026). [PMID: 41136202](https://pubmed.ncbi.nlm.nih.gov/41136202/). *Pract Neurol*. [Review / Meta-Analysis]
Balestrini S (2026). [PMID: 41137852](https://pubmed.ncbi.nlm.nih.gov/41137852/). *Epilepsia*. [Epidemiology / Natural History]
Manti F (2026). [PMID: 41450729](https://pubmed.ncbi.nlm.nih.gov/41450729/). *Neurol Genet*. [Epidemiology / Natural History]
Baigh ZH (2026). [PMID: 42255876](https://pubmed.ncbi.nlm.nih.gov/42255876/). *Cureus*. [Case Report / Case Series]

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intellectual disability, autosomal recessive 18

Overview

Clinical Presentation

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Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

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intellectual disability, autosomal recessive 18

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