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intellectual disability, autosomal dominant 47 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, autosomal dominant 47

MONDO:0030912

Also known as:STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeMRD47autosomal dominant intellectual disability 47

Overview

GeneticsAutosomal dominant · STAG1 (chr 3)

OnsetCONGENITAL, NEONATAL

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 very common findings: Intellectual disability, Deeply set eye, and Global developmental delay; and common findings: Seizure, Gastroesophageal reflux, Thin eyebrow, and Wide mouth and others. 48 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Seizure, Intellectual disability, Brain shrinkage (cerebral atrophy)

Genetic Landscape

STAG1 function has not been fully characterized.

Intellectual disability, autosomal dominant 47 is associated with mutations in the STAG1 gene on chromosome 3.

Diagnosis

Genetic testing for STAG1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal dominant 47 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 very common features, 8 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 47.

13 publications have been identified in PubMed for intellectual disability, autosomal dominant 47. Research spans Case Report / Case Series (31%), Review / Meta-Analysis (23%), and Clinical Trial Publication (15%).

Research Type	Count	% of Total
Patient case studies	4	31%

Data assembled from 6 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:617635

Orphanet

European rare disease database

Orphanet:502434

GARD

Genetic and Rare Diseases Info Center

GARD:17935

Questions for Your Care Team

→Should I pursue genetic testing for STAG1, 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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Kisho

intellectual disability, autosomal dominant 47

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

intellectual disability, autosomal dominant 47

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications