EPB41L1 encodes erythrocyte membrane protein band 4.1 like 1 (881 aa). May function to confer stability and plasticity to neuronal membrane via multiple interactions, including the spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guan... Highest expression in Brain Frontal Cortex BA9 (97.1 TPM) and Brain Cortex (79.6 TPM).

Intellectual disability, autosomal dominant 11 is associated with mutations in the EPB41L1 gene on chromosome 20.

EPB41L1 is classified as a druggable target (Kinase category) with score 0.0.

Genetic testing for EPB41L1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 2 very common features, 11 common features.

No clinical trials have been registered for intellectual disability, autosomal dominant 11.

35 publications have been identified in PubMed for intellectual disability, autosomal dominant 11. Research spans Case Report / Case Series (56%), Review / Meta-Analysis (16%), and Basic Science / Preclinical (13%).

Recent Publications

• Ghulman RR (2026). [PMID: 42181528](https://pubmed.ncbi.nlm.nih.gov/42181528/). *Case Rep Dent*. [Case Report / Case Series]

• Wu Y (2026). [PMID: 42183389](https://pubmed.ncbi.nlm.nih.gov/42183389/). *Int J Pediatr*. [Case Report / Case Series]

• Liang H (2026). [PMID: 41965552](https://pubmed.ncbi.nlm.nih.gov/41965552/). *BMC Endocr Disord*. [Case Report / Case Series]

• Liang Y (2026). [PMID: 41833451](https://pubmed.ncbi.nlm.nih.gov/41833451/). *The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians*. [Case Report / Case Series]

• Al-Shahrani H (2026). [PMID: 41897354](https://pubmed.ncbi.nlm.nih.gov/41897354/). *Biomolecules*. [Review / Meta-Analysis]

• Lin IS (2026). [PMID: 41769593](https://pubmed.ncbi.nlm.nih.gov/41769593/). *Cureus*. [Case Report / Case Series]

• Murthy H (2026). [PMID: 40717498](https://pubmed.ncbi.nlm.nih.gov/40717498/). *Brain : a journal of neurology*. [Basic Science / Preclinical]

• Yoshimatsu H (2026). [PMID: 41820311](https://pubmed.ncbi.nlm.nih.gov/41820311/). *Human genome variation*. [Basic Science / Preclinical]

• Leduc F (2025). [PMID: 40348827](https://pubmed.ncbi.nlm.nih.gov/40348827/). *European journal of human genetics : EJHG*. [Case Report / Case Series]

• Zhu H (2025). [PMID: 40804712](https://pubmed.ncbi.nlm.nih.gov/40804712/). *BMC neurology*. [Basic Science / Preclinical]