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intellectual disability, autosomal recessive 60 (MRT60) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, autosomal recessive 60

MONDO:0044313

Also known as:MRT60mental retardation, autosomal recessive 60

Overview

GeneticsAutosomal recessive · TAF13 (chr 1)

ResearchLimited published research (8 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: Microcephaly, Mild intellectual disability, Delayed skeletal maturation, and Small for gestational age and others; and common findings: Delayed CNS myelination. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Mild intellectual disability, Global developmental delay

Genetic Landscape

TAF13 function has not been fully characterized.

Intellectual disability, autosomal recessive 60 is associated with mutations in the TAF13 gene on chromosome 1.

Diagnosis

Genetic testing for TAF13 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal recessive 60 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present 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 disability, autosomal recessive 60.

9 publications have been identified in PubMed for intellectual disability, autosomal recessive 60. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (25%), and Diagnostic / Biomarker (13%).

Recent Publications

Roberts JP (2025). [PMID: 40061310](https://pubmed.ncbi.nlm.nih.gov/40061310/). *medRxiv : the preprint server for health sciences*. [Review / Meta-Analysis]
AlFaris B (2025). [PMID: 39667299](https://pubmed.ncbi.nlm.nih.gov/39667299/). *Brain & development*. [Diagnostic / Biomarker]
Ghosh U (2025). [PMID: 41035246](https://pubmed.ncbi.nlm.nih.gov/41035246/). *Clinical and experimental pediatrics*. [Case Report / Case Series]
Şivet EA (2025). [PMID: 40960323](https://pubmed.ncbi.nlm.nih.gov/40960323/). *Turkish archives of pediatrics*. [Case Report / Case Series]
Wnuk-Kłosińska A (2025). [PMID: 41010026](https://pubmed.ncbi.nlm.nih.gov/41010026/). *Genes*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617432

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?

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intellectual disability, autosomal recessive 60

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

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