MED11 encodes mediator complex subunit 11 (117 aa). Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Highest expression in Spleen (35.7 TPM) and Adrenal Gland (35.6 TPM).

Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities is associated with mutations in the MED11 gene on chromosome 17.

MED11 is classified as a druggable target (Transcription Factor category) with score 0.0.

Genetic testing for MED11 is available. Testing is considered confirmatory for diagnosis.

1 FDA-approved treatment is available for neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, including LEVETIRACETAM (KEPPRA, approved 1999).

Approved Therapies

Phenotype severity distribution: 5 always present features, 10 common features.

No clinical trials have been registered for neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities.

1 publication has been identified in PubMed for neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities. Research spans Case Report / Case Series (100%).

Recent Publications

• Zhou C (2025). [PMID: 39578696](https://pubmed.ncbi.nlm.nih.gov/39578696/). *Prenatal diagnosis*. [Case Report / Case Series]