Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

intellectual disability, autosomal recessive 12 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, autosomal recessive 12

MONDO:0012612

Also known as:intellectual developmental disorder, autosomal recessive 12intellectual disability, autosomal recessive type 12mental retardation, autosomal recessive type 12

Overview

GeneticsAutosomal recessive · ST3GAL3 (chr 1)

Clinical Presentation

Features include: Intellectual disability.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Intellectual disability

Explore clinical features

Genetic Landscape

ST3GAL3 function has not been fully characterized.

Intellectual disability, autosomal recessive 12 is associated with mutations in the ST3GAL3 gene on chromosome 1.

Diagnosis

Genetic testing for ST3GAL3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal recessive 12 has been reported in the published literature.

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 12.

46 publications have been identified in PubMed for intellectual disability, autosomal recessive 12. Kisho has analyzed 35 by research type. Research spans Case Report / Case Series (57%), Epidemiology / Natural History (14%), and Review / Meta-Analysis (11%).

Research Type	Count	% of Total
Patient case studies	20	57%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611090

GARD

Genetic and Rare Diseases Info Center

GARD:22540

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

intellectual disability, autosomal recessive 12

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications