Features include always present findings: Stage 5 chronic kidney disease, Nephrotic syndrome, Intellectual disability, and Global developmental delay and others; and common findings: Narrow forehead, Dysmetria, Short stature, and Shrinkage of the cerebellum (cerebellar atrophy) and others. 26 total HPO annotations.

LAGE3 encodes L antigen family member 3 (143 aa). Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. Highest expression in Brain Frontal Cortex BA9 (62.1 TPM) and Pituitary (60.5 TPM).

Galloway-Mowat syndrome 2, X-linked is associated with mutations in the LAGE3 gene on chromosome X.

LAGE3 is classified as a druggable target with score 0.0.

Genetic testing for LAGE3 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 6 always present features, 18 common features.

No clinical trials have been registered for Galloway-Mowat syndrome 2, X-linked.

6 publications have been identified in PubMed for Galloway-Mowat syndrome 2, X-linked. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).

Recent Publications

• Porowski M (2026). [PMID: 41761595](https://pubmed.ncbi.nlm.nih.gov/41761595/). *The American journal of case reports*. [Case Report / Case Series]

• Yang YL (2025). [PMID: 40688758](https://pubmed.ncbi.nlm.nih.gov/40688758/). *Neurology. Genetics*. [Case Report / Case Series]

• Atallah I (2025). [PMID: 39473271](https://pubmed.ncbi.nlm.nih.gov/39473271/). *American journal of medical genetics. Part A*. [Case Report / Case Series]

• Yeboah EK (2025). [PMID: 40357071](https://pubmed.ncbi.nlm.nih.gov/40357071/). *Cureus*. [Case Report / Case Series]

• Huang L (2025). [PMID: 40533795](https://pubmed.ncbi.nlm.nih.gov/40533795/). *Cell Commun Signal*. [Review / Meta-Analysis]