Features include always present findings: Coarse facial features, Severe intellectual disability, Global developmental delay, and Autistic behavior; and very common findings: Delayed gross motor development and High forehead. 26 total HPO annotations.

BCORL1 encodes BCL6 corepressor like 1 (1,785 aa). Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA-binding proteins such as BCL6. Highest expression in Testis (13.8 TPM) and Uterus (13.1 TPM).

Shukla-Vernon syndrome has limited evidence linking it to mutations in the BCORL1 gene on chromosome X.

BCORL1 is classified as a druggable target (Clinically Actionable category) with score 0.0.

Genetic testing for BCORL1 is available. Testing is considered research-grade for diagnosis.

Phenotype severity distribution: 4 always present features, 2 very common features, 13 common features.

No clinical trials have been registered for Shukla-Vernon syndrome.

2 publications have been identified in PubMed for Shukla-Vernon syndrome. Research spans Basic Science / Preclinical (50%) and Epidemiology / Natural History (50%).

Recent Publications

• Wolf van der Meer J (2025). [PMID: 39919828](https://pubmed.ncbi.nlm.nih.gov/39919828/). *Genes & development*. [Basic Science / Preclinical]

• Gogate A (2024). [PMID: 39632905](https://pubmed.ncbi.nlm.nih.gov/39632905/). *NPJ genomic medicine*. [Epidemiology / Natural History]