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intellectual disability, autosomal recessive 54 (MRT54) - 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 recessive 54.

129 publications have been identified in PubMed for intellectual disability, autosomal recessive 54. Research spans Epidemiology / Natural History (37%), Review / Meta-Analysis (24%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Disease patterns and progression	48	37%
Research summaries	31	24%
Laboratory research	24	19%
Clinical study results	10	8%
Testing and diagnosis research	7	5%
Patient case studies	5	4%
Other research	4	3%

Recent Publications

Balestrini S (2026). [PMID: 41137852](https://pubmed.ncbi.nlm.nih.gov/41137852/). *Epilepsia*. [Epidemiology / Natural History]
Miller JL (2026). [PMID: 41482637](https://pubmed.ncbi.nlm.nih.gov/41482637/). *J Clin Endocrinol Metab*. [Clinical Trial Publication]
Rotulo GA (2026). [PMID: 41390316](https://pubmed.ncbi.nlm.nih.gov/41390316/). *Pediatr Neonatol*. [Review / Meta-Analysis]
Peyre H (2026). [PMID: 42014468](https://pubmed.ncbi.nlm.nih.gov/42014468/). *Mol Psychiatry*. [Epidemiology / Natural History]
Lee J (2026). [PMID: 41762932](https://pubmed.ncbi.nlm.nih.gov/41762932/). *Res Dev Disabil*. [Epidemiology / Natural History]
Chaabouni M (2026). [PMID: 41854122](https://pubmed.ncbi.nlm.nih.gov/41854122/). *Clin Genet*. [Basic Science / Preclinical]
Feng Z (2026). [PMID: 41795174](https://pubmed.ncbi.nlm.nih.gov/41795174/). *Am J Med Genet A*. [Diagnostic / Biomarker]
Pan X (2026). [PMID: 41764152](https://pubmed.ncbi.nlm.nih.gov/41764152/). *J Mol Med (Berl)*. [Basic Science / Preclinical]
Lindstedt S (2026). [PMID: 41045179](https://pubmed.ncbi.nlm.nih.gov/41045179/). *J Intellect Disabil Res*. [Review / Meta-Analysis]
Harripaul R (2026). [PMID: 41865132](https://pubmed.ncbi.nlm.nih.gov/41865132/). *Sci Rep*. [Basic Science / Preclinical]

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intellectual disability, autosomal recessive 54

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Recent Publications

intellectual disability, autosomal recessive 54

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