GATAD2B encodes GATA zinc finger domain containing 2B (593 aa). Transcriptional repressor. Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin. Enhances MBD2-mediated repression.

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is caused by mutations in the GATAD2B gene on chromosome 1.

The GATAD2B protein participates in monoSUMO1-K33 GATAD2B, GATAD2B is SUMOylated, and ZNF423 recruits NuRD to EBF2 target genes pathways.

GATAD2B is classified as a druggable target with score 0.0.

Genetic testing for GATAD2B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome has been reported in the published literature.

Phenotype severity distribution: 7 always present features.

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

No clinical trials have been registered for severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome.

45 publications have been identified in PubMed for severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (20%), and Epidemiology / Natural History (16%).

Recent Publications

• Musante L (2026). [PMID: 41709284](https://pubmed.ncbi.nlm.nih.gov/41709284/). *Genome Med*. [Other]

• Musante I (2026). [PMID: 41325909](https://pubmed.ncbi.nlm.nih.gov/41325909/). *Neurobiology of disease*. [Case Report / Case Series]

• Tan CW (2026). [PMID: 40371175](https://pubmed.ncbi.nlm.nih.gov/40371175/). *Molecular syndromology*. [Basic Science / Preclinical]

• Sokolova T (2026). [PMID: 41718288](https://pubmed.ncbi.nlm.nih.gov/41718288/). *Reports (MDPI)*. [Case Report / Case Series]

• Silva MF (2026). [PMID: 41694865](https://pubmed.ncbi.nlm.nih.gov/41694865/). *Cureus*. [Case Report / Case Series]

• Celik VD (2026). [PMID: 41940405](https://pubmed.ncbi.nlm.nih.gov/41940405/). *Mol Syndromol*. [Other]

• Hindermann M (2026). [PMID: 41729076](https://pubmed.ncbi.nlm.nih.gov/41729076/). *JCI insight*. [Case Report / Case Series]

• Lin IS (2026). [PMID: 41769593](https://pubmed.ncbi.nlm.nih.gov/41769593/). *Cureus*. [Case Report / Case Series]

• Al-Shahrani H (2026). [PMID: 41897354](https://pubmed.ncbi.nlm.nih.gov/41897354/). *Biomolecules*. [Other]

• Long Y (2025). [PMID: 39958354](https://pubmed.ncbi.nlm.nih.gov/39958354/). *Frontiers in immunology*. [Gene Therapy / Novel Therapeutics]