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intellectual developmental disorder, autosomal dominant 73 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, autosomal dominant 73

MONDO:0957536

Overview

GeneticsAutosomal dominant · TAF4 (chr 20)

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: Short stature, Short palpebral fissure, Ankyloglossia, and Thick vermilion border and others; and very common findings: Delayed ability to sit and Intellectual disability. 99 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Delayed speech and language development, Febrile seizure (within the age range of 3 months to 6 years), Mild intellectual disability

Genetic Landscape

TAF4 function has not been fully characterized.

Intellectual developmental disorder, autosomal dominant 73 is associated with mutations in the TAF4 gene on chromosome 20.

Diagnosis

Genetic testing for TAF4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 95 always present features, 2 very common 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 developmental disorder, autosomal dominant 73.

6 publications have been identified in PubMed for intellectual developmental disorder, autosomal dominant 73. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).

Recent Publications

Tudorache E (2026). [PMID: 41976806](https://pubmed.ncbi.nlm.nih.gov/41976806/). *J Clin Med*. [Case Report / Case Series]
Kayhan G (2026). [PMID: 41751633](https://pubmed.ncbi.nlm.nih.gov/41751633/). *Genes (Basel)*. [Basic Science / Preclinical]
Liang H (2026). [PMID: 41965552](https://pubmed.ncbi.nlm.nih.gov/41965552/). *BMC Endocr Disord*. [Case Report / Case Series]
Chen L (2025). [PMID: 39709005](https://pubmed.ncbi.nlm.nih.gov/39709005/). *Eur J Med Genet*. [Case Report / Case Series]
Vecchio D (2025). [PMID: 39709003](https://pubmed.ncbi.nlm.nih.gov/39709003/). *Eur J Med Genet*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620450

Questions for Your Care Team

→Should I pursue genetic testing for TAF4, 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 developmental disorder, autosomal dominant 73

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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