Features include always present findings: Receptive language delay, Motor delay, Intellectual disability, and Delayed speech and language development; and common findings: Epicanthus, Strabismus, Seizure, and Low muscle tone (hypotonia) and others. 34 total HPO annotations.

AGO2 encodes argonaute RISC catalytic component 2 (859 aa). Required for RNA-mediated gene silencing (RNAi) by the RNA-induced silencing complex (RISC). Highest expression in Uterus (21.8 TPM) and Ovary (20.6 TPM).

Lessel-Kreienkamp syndrome is caused by mutations in the AGO2 gene on chromosome 8.

The AGO2 protein participates in Importin-8 imports AGO2:miRNA into the nucleus, Removal of miRNA passenger strand, and Removal of siRNA passenger strand pathways.

AGO2 is classified as a druggable target with score 0.0.

Genetic testing for AGO2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 4 always present features, 12 common features.

No clinical trials have been registered for Lessel-Kreienkamp syndrome.

7 publications have been identified in PubMed for Lessel-Kreienkamp syndrome. Research spans Review / Meta-Analysis (43%), Case Report / Case Series (29%), and Basic Science / Preclinical (29%).

Recent Publications

• Lee H (2026). [PMID: 41792231](https://pubmed.ncbi.nlm.nih.gov/41792231/). *Exp Mol Med*. [Review / Meta-Analysis]

• Sona C (2025). [PMID: 39999211](https://pubmed.ncbi.nlm.nih.gov/39999211/). *Sci Signal*. [Basic Science / Preclinical]

• Liu TM (2025). [PMID: 41099708](https://pubmed.ncbi.nlm.nih.gov/41099708/). *Nucleic Acids Res*. [Basic Science / Preclinical]

• Wallmann A (2025). [PMID: 41020504](https://pubmed.ncbi.nlm.nih.gov/41020504/). *Nucleic Acids Res*. [Review / Meta-Analysis]

• Yang S (2025). [PMID: 40574801](https://pubmed.ncbi.nlm.nih.gov/40574801/). *Front Genet*. [Case Report / Case Series]

• Hassani Nia F (2025). [PMID: 40156170](https://pubmed.ncbi.nlm.nih.gov/40156170/). *Dev Med Child Neurol*. [Review / Meta-Analysis]