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intellectual disability, autosomal dominant 57 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, autosomal dominant 57

MONDO:0054837

Also known as:TLK2-Related Neurodevelopmental DisorderTLK2-related syndromeintellectual developmental disorder, autosomal dominant 57

Overview

GeneticsAutosomal dominant · TLK2 (chr 17)

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: Intellectual disability, Global developmental delay, Upslanted palpebral fissure, and Motor delay and others; and common findings: Epicanthus, Strabismus, Short stature, and Hoarse voice and others. 50 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Seizure, Intellectual disability, Global developmental delay

Genetic Landscape

TLK2 function has not been fully characterized.

Intellectual disability, autosomal dominant 57 is associated with mutations in the TLK2 gene on chromosome 17.

Diagnosis

Genetic testing for TLK2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features, 23 common features.

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 57.

11 publications have been identified in PubMed for intellectual disability, autosomal dominant 57. Research spans Case Report / Case Series (27%), Epidemiology / Natural History (27%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Patient case studies	3	27%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618050

Questions for Your Care Team

→Should I pursue genetic testing for TLK2, 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 57

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

intellectual disability, autosomal dominant 57

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications