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intellectual disability, autosomal dominant 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, autosomal dominant 4

MONDO:0012947

Also known as:KIRREL3 autosomal dominant non-syndromic intellectual disabilityMRD4autosomal dominant intellectual disability 4

Overview

GeneticsAutosomal dominant

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: Short chin, Midface retrusion, Syndactyly, and Intellectual disability and 3 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Intellectual disability, Severe intellectual disability
Arms and legs

Diagnosis

Biomarker and diagnostic research for intellectual disability, autosomal dominant 4 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 dominant 4.

67 publications have been identified in PubMed for intellectual disability, autosomal dominant 4. Research spans Case Report / Case Series (48%), Basic Science / Preclinical (18%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Patient case studies	30	48%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612581

GARD

Genetic and Rare Diseases Info Center

GARD:16455

Questions for Your Care Team

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Kisho

intellectual disability, autosomal dominant 4

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

intellectual disability, autosomal dominant 4

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications