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intellectual disability, autosomal dominant 58 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, autosomal dominant 58

MONDO:0020847

Also known as:MENTAL RETARDATION, autosomal dominant 58MRD58

Overview

GeneticsAutosomal dominant · SET (chr 9)

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Delayed speech and language development and Global developmental delay; and common findings: Hypertelorism. 39 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Poor speech, Seizure, Intellectual disability

Genetic Landscape

SET function has not been fully characterized.

Intellectual disability, autosomal dominant 58 is associated with mutations in the SET gene on chromosome 9.

Diagnosis

Genetic testing for SET is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 1 common feature.

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 58.

6 publications have been identified in PubMed for intellectual disability, autosomal dominant 58. Research spans Epidemiology / Natural History (50%), Case Report / Case Series (33%), and Other (17%).

Recent Publications

Hirai S (2026). [PMID: 41844570](https://pubmed.ncbi.nlm.nih.gov/41844570/). *Hum Genome Var*. [Case Report / Case Series]
Guo W (2026). [PMID: 41810193](https://pubmed.ncbi.nlm.nih.gov/41810193/). *Transl Pediatr*. [Case Report / Case Series]
Jimoh IJ (2025). [PMID: 39978794](https://pubmed.ncbi.nlm.nih.gov/39978794/). *Clin Genet*. [Epidemiology / Natural History]
Kong JY (2025). [PMID: 40050103](https://pubmed.ncbi.nlm.nih.gov/40050103/). *Zhonghua Yan Ke Za Zhi*. [Other]
Alstrup M (2024). [PMID: 39033379](https://pubmed.ncbi.nlm.nih.gov/39033379/). *Genet Med*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618106

GARD

Genetic and Rare Diseases Info Center

GARD:16476

Questions for Your Care Team

→Should I pursue genetic testing for SET, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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intellectual disability, autosomal dominant 58

Overview

Clinical Presentation

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

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