CNKSR2 encodes connector enhancer of kinase suppressor of Ras 2 (1,034 aa). May function as an adapter protein or regulator of Ras signaling pathways Highest expression in Brain Cerebellar Hemisphere (78.0 TPM) and Brain Cerebellum (60.5 TPM).

Intellectual disability, X-linked, syndromic, Houge type is associated with mutations in the CNKSR2 gene on chromosome X.

CNKSR2 is classified as a druggable target (Kinase category) with score 0.0.

Genetic testing for CNKSR2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 very common features, 4 common features.

No clinical trials have been registered for intellectual disability, X-linked, syndromic, Houge type.

4 publications have been identified in PubMed for intellectual disability, X-linked, syndromic, Houge type. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

• Duan H (2026). [PMID: 42244324](https://pubmed.ncbi.nlm.nih.gov/42244324/). *Zhong Nan Da Xue Xue Bao Yi Xue Ban*. [Review / Meta-Analysis]

• Ghasemi MR (2025). [PMID: 39707601](https://pubmed.ncbi.nlm.nih.gov/39707601/). *American journal of medical genetics. Part A*. [Basic Science / Preclinical]

• Chang SH (2025). [PMID: 39920708](https://pubmed.ncbi.nlm.nih.gov/39920708/). *Italian journal of pediatrics*. [Case Report / Case Series]

• Mehawej C (2024). [PMID: 39062680](https://pubmed.ncbi.nlm.nih.gov/39062680/). *Genes*. [Case Report / Case Series]