Features include always present findings: Occipital encephalocele, Ulnar deviation of the hand, Dandy-Walker malformation, and Micropenis and others; and common findings: Anencephaly. 24 total HPO annotations.

B9D2 encodes B9 domain containing 2 (175 aa). Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plas... Highest expression in Testis (14.7 TPM) and Whole Blood (11.5 TPM).

Meckel syndrome, type 10 is associated with mutations in the B9D2 gene on chromosome 19.

B9D2 is classified as a druggable target with score 0.0.

Genetic testing for B9D2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 14 always present features, 1 common feature.

No clinical trials have been registered for Meckel syndrome, type 10.

8 publications have been identified in PubMed for Meckel syndrome, type 10. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

• He R (2026). [PMID: 41165761](https://pubmed.ncbi.nlm.nih.gov/41165761/). *J Clin Invest*. [Basic Science / Preclinical]

• Boutaud L (2026). [PMID: 40841990](https://pubmed.ncbi.nlm.nih.gov/40841990/). *Clin Genet*. [Basic Science / Preclinical]

• Yang Q (2025). [PMID: 41317100](https://pubmed.ncbi.nlm.nih.gov/41317100/). *Mol Genet Genomic Med*. [Case Report / Case Series]

• Ahmed M (2025). [PMID: 40436881](https://pubmed.ncbi.nlm.nih.gov/40436881/). *Nat Commun*. [Basic Science / Preclinical]

• Campobasso G (2025). [PMID: 40565534](https://pubmed.ncbi.nlm.nih.gov/40565534/). *Genes (Basel)*. [Review / Meta-Analysis]

• Yao Y (2025). [PMID: 40235744](https://pubmed.ncbi.nlm.nih.gov/40235744/). *Quant Imaging Med Surg*. [Case Report / Case Series]