Features include always present findings: Nephrotic syndrome, Protein in the urine (proteinuria), and Primary microcephaly; and common findings: Seizure, Low muscle tone (hypotonia), Congenital nephrotic syndrome, and Global developmental delay and others. 26 total HPO annotations.

TP53RK function has not been fully characterized.

Galloway-Mowat syndrome 4 is associated with mutations in the TP53RK gene on chromosome 20.

Genetic testing for TP53RK is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 5 common features.

No clinical trials have been registered for Galloway-Mowat syndrome 4.

5 publications have been identified in PubMed for Galloway-Mowat syndrome 4. Research spans Case Report / Case Series (60%) and Review / Meta-Analysis (40%).

Recent Publications

• Yang YL (2025). [PMID: 40688758](https://pubmed.ncbi.nlm.nih.gov/40688758/). *Neurol Genet*. [Review / Meta-Analysis]

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

• Yari A (2025). [PMID: 39661309](https://pubmed.ncbi.nlm.nih.gov/39661309/). *Neurol Sci*. [Case Report / Case Series]

• Wei J (2025). [PMID: 40490705](https://pubmed.ncbi.nlm.nih.gov/40490705/). *BMC Pediatr*. [Review / Meta-Analysis]

• Alves GR (2024). [PMID: 38321585](https://pubmed.ncbi.nlm.nih.gov/38321585/). *Spec Care Dentist*. [Case Report / Case Series]