TAF2 function has not been fully characterized.

Microcephaly-thin corpus callosum-intellectual disability syndrome is associated with mutations in the TAF2 gene on chromosome 8.

Genetic testing for TAF2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for microcephaly-thin corpus callosum-intellectual disability syndrome has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 3 common features.

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

No clinical trials have been registered for microcephaly-thin corpus callosum-intellectual disability syndrome.

19 publications have been identified in PubMed for microcephaly-thin corpus callosum-intellectual disability syndrome. Research spans Case Report / Case Series (37%), Review / Meta-Analysis (21%), and Basic Science / Preclinical (16%).

Recent Publications

• Kovalskaia VA (2026). [PMID: 42271513](https://pubmed.ncbi.nlm.nih.gov/42271513/). *Hum Genomics*. [Other]

• Khalilian S (2026). [PMID: 42572583](https://pubmed.ncbi.nlm.nih.gov/42572583/). *Mol Genet Metab Rep*. [Basic Science / Preclinical]

• Kido J (2026). [PMID: 42150437](https://pubmed.ncbi.nlm.nih.gov/42150437/). *Mol Genet Metab*. [Case Report / Case Series]

• Qi R (2025). [PMID: 41393301](https://pubmed.ncbi.nlm.nih.gov/41393301/). *Frontiers in endocrinology*. [Review / Meta-Analysis]

• Roberts JP (2025). [PMID: 40061310](https://pubmed.ncbi.nlm.nih.gov/40061310/). *medRxiv : the preprint server for health sciences*. [Epidemiology / Natural History]

• Thanuja B (2025). [PMID: 40088508](https://pubmed.ncbi.nlm.nih.gov/40088508/). *Pediatric neurology*. [Review / Meta-Analysis]

• Poleg T (2025). [PMID: 40492975](https://pubmed.ncbi.nlm.nih.gov/40492975/). *Movement disorders : official journal of the Movement Disorder Society*. [Case Report / Case Series]

• Tuncel G (2025). [PMID: 40321317](https://pubmed.ncbi.nlm.nih.gov/40321317/). *International journal of genomics*. [Diagnostic / Biomarker]

• Türkdoğan D (2025). [PMID: 39704271](https://pubmed.ncbi.nlm.nih.gov/39704271/). *Movement disorders : official journal of the Movement Disorder Society*. [Case Report / Case Series]

• Skocy H (2025). [PMID: 40687628](https://pubmed.ncbi.nlm.nih.gov/40687628/). *Molecular genetics and metabolism reports*. [Case Report / Case Series]