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intellectual disability, autosomal recessive 27 - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Absent speech, Global developmental delay, Depressed nasal bridge
Growth and development	2	Failure to thrive, Growth delay
Head and neck	1	Microcephaly
Muscles	1	Low muscle tone (hypotonia)

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 27.

21 publications have been identified in PubMed for intellectual disability, autosomal recessive 27. Research spans Case Report / Case Series (24%), Basic Science / Preclinical (19%), and Diagnostic / Biomarker (14%).

Research Type	Count	% of Total
Patient case studies	5	24%
Laboratory research	4	19%
Testing and diagnosis research	3	14%
Research summaries	3	14%
Clinical study results	2	10%
New treatment approaches	2	10%
Other research	1	5%
Disease patterns and progression	1	5%

Recent Publications

Alimoradi E (2026). [PMID: 41656075](https://pubmed.ncbi.nlm.nih.gov/41656075/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Binsfeld R (2026). [PMID: 41596680](https://pubmed.ncbi.nlm.nih.gov/41596680/). *Int J Mol Sci*. [Gene Therapy / Novel Therapeutics]
Cesur Baltacı HN (2026). [PMID: 41064050](https://pubmed.ncbi.nlm.nih.gov/41064050/). *Mol Syndromol*. [Case Report / Case Series]
Bylstra Y (2025). [PMID: 41453871](https://pubmed.ncbi.nlm.nih.gov/41453871/). *NPJ Genom Med*. [Diagnostic / Biomarker]
Chen J (2025). [PMID: 41188742](https://pubmed.ncbi.nlm.nih.gov/41188742/). *BMC Pediatr*. [Case Report / Case Series]
Harding CO (2025). [PMID: 40411344](https://pubmed.ncbi.nlm.nih.gov/40411344/). *Genet Med*. [Clinical Trial Publication]
Akar HT (2025). [PMID: 39953904](https://pubmed.ncbi.nlm.nih.gov/39953904/). *J Pediatr Endocrinol Metab*. [Epidemiology / Natural History]
Hashmi HB (2025). [PMID: 41452392](https://pubmed.ncbi.nlm.nih.gov/41452392/). *Neurogenetics*. [Diagnostic / Biomarker]
Baker M (2025). [PMID: 40700090](https://pubmed.ncbi.nlm.nih.gov/40700090/). *Vision (Basel)*. [Review / Meta-Analysis]
Shah AWA (2025). [PMID: 40813497](https://pubmed.ncbi.nlm.nih.gov/40813497/). *Mol Biol Rep*. [Basic Science / Preclinical]

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intellectual disability, autosomal recessive 27

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

intellectual disability, autosomal recessive 27

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