CRBN encodes cereblon (442 aa). Substrate recognition component of a DCX (DDB1-CUL4-X-box) E3 protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as MEIS2, ILF2 or GLUL. Highest expression in Nerve Tibial (40.8 TPM) and Testis (39.6 TPM).

Intellectual disability, autosomal recessive 2 is associated with mutations in the CRBN gene on chromosome 3.

CRBN is classified as a druggable target (Drug Resistance and Enzyme categories) with score 5.2.

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

Biomarker and diagnostic research for intellectual disability, autosomal recessive 2 has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 1 very common feature, 2 common features.

No clinical trials have been registered for intellectual disability, autosomal recessive 2.

94 publications have been identified in PubMed for intellectual disability, autosomal recessive 2. Research spans Case Report / Case Series (48%), Review / Meta-Analysis (16%), and Basic Science / Preclinical (14%).

Recent Publications

• Kiss S (2026). [PMID: 41631259](https://pubmed.ncbi.nlm.nih.gov/41631259/). *JIMD Rep*. [Basic Science / Preclinical]

• Akhila P (2026). [PMID: 41611321](https://pubmed.ncbi.nlm.nih.gov/41611321/). *BMJ Case Rep*. [Case Report / Case Series]

• Yigit ZM (2026). [PMID: 40960173](https://pubmed.ncbi.nlm.nih.gov/40960173/). *Am J Med Genet A*. [Case Report / Case Series]

• Viudes CP (2026). [PMID: 41700350](https://pubmed.ncbi.nlm.nih.gov/41700350/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]

• Beşen Ş (2026). [PMID: 41622609](https://pubmed.ncbi.nlm.nih.gov/41622609/). *Ann Indian Acad Neurol*. [Clinical Trial Publication]

• Köseoğlu GM (2026). [PMID: 42153583](https://pubmed.ncbi.nlm.nih.gov/42153583/). *Am J Med Genet A*. [Diagnostic / Biomarker]

• Ek M (2026). [PMID: 41514368](https://pubmed.ncbi.nlm.nih.gov/41514368/). *Genome Med*. [Diagnostic / Biomarker]

• Phadke S (2026). [PMID: 42231755](https://pubmed.ncbi.nlm.nih.gov/42231755/). *Am J Med Genet A*. [Review / Meta-Analysis]

• İcil S (2026). [PMID: 42232678](https://pubmed.ncbi.nlm.nih.gov/42232678/). *Mol Syndromol*. [Epidemiology / Natural History]

• Javed K (2026). [PMID: 41347281](https://pubmed.ncbi.nlm.nih.gov/41347281/). *Ann Hum Genet*. [Basic Science / Preclinical]