CDH15 encodes cadherin 15 (814 aa). Cadherins are calcium-dependent cell adhesion proteins. Highest expression in Brain Cerebellum (140.5 TPM) and Brain Cerebellar Hemisphere (130.4 TPM).

Intellectual disability, autosomal dominant 3 is associated with mutations in the CDH15 gene on chromosome 16.

The CDH15 protein participates in Regulation of Expression and Function of Type I Classical Cadherins pathway.

CDH15 is classified as a druggable target with score 8.7.

Genetic testing for CDH15 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal dominant 3 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature.

No clinical trials have been registered for intellectual disability, autosomal dominant 3.

96 publications have been identified in PubMed for intellectual disability, autosomal dominant 3. Research spans Case Report / Case Series (53%), Review / Meta-Analysis (18%), and Epidemiology / Natural History (14%).

Recent Publications

• Wang Z (2026). [PMID: 41916888](https://pubmed.ncbi.nlm.nih.gov/41916888/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]

• Pan X (2026). [PMID: 41764152](https://pubmed.ncbi.nlm.nih.gov/41764152/). *J Mol Med (Berl)*. [Epidemiology / Natural History]

• da Costa Urbano JC (2026). [PMID: 42050746](https://pubmed.ncbi.nlm.nih.gov/42050746/). *Am J Med Genet A*. [Case Report / Case Series]

• Kayhan G (2026). [PMID: 41751633](https://pubmed.ncbi.nlm.nih.gov/41751633/). *Genes (Basel)*. [Epidemiology / Natural History]

• Xie M (2026). [PMID: 40899458](https://pubmed.ncbi.nlm.nih.gov/40899458/). *Ann Hum Genet*. [Review / Meta-Analysis]

• Romano F (2026). [PMID: 41344425](https://pubmed.ncbi.nlm.nih.gov/41344425/). *European journal of medical genetics*. [Case Report / Case Series]

• Wang MX (2026). [PMID: 41746821](https://pubmed.ncbi.nlm.nih.gov/41746821/). *Radiographics*. [Diagnostic / Biomarker]

• Yang Q (2026). [PMID: 41560868](https://pubmed.ncbi.nlm.nih.gov/41560868/). *Exp Ther Med*. [Case Report / Case Series]

• He Y (2026). [PMID: 41574619](https://pubmed.ncbi.nlm.nih.gov/41574619/). *Int J Dev Neurosci*. [Case Report / Case Series]

• Samara AA (2026). [PMID: 41595474](https://pubmed.ncbi.nlm.nih.gov/41595474/). *Genes (Basel)*. [Case Report / Case Series]