Features include always present findings: Stage 5 chronic kidney disease, Microcephaly, Shrinkage of the cerebellum (cerebellar atrophy), and Cerebral cortical atrophy and others; and very common findings: Secondary microcephaly. 20 total HPO annotations.

GON7 encodes GON7 subunit of KEOPS complex (100 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.

Galloway-Mowat syndrome 9 is associated with mutations in the GON7 gene on chromosome 14.

GON7 is classified as a druggable target with score 0.0.

Genetic testing for GON7 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 5 always present features, 1 very common feature, 8 common features.

No clinical trials have been registered for Galloway-Mowat syndrome 9.

6 publications have been identified in PubMed for Galloway-Mowat syndrome 9. Research spans Review / Meta-Analysis (50%), Basic Science / Preclinical (33%), and Case Report / Case Series (17%).

Recent Publications

• Singh N (2026). [PMID: 42257118](https://pubmed.ncbi.nlm.nih.gov/42257118/). *J Family Med Prim Care*. [Case Report / Case Series]

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

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

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

• Ona Chuquimarca SM (2024). [PMID: 39639027](https://pubmed.ncbi.nlm.nih.gov/39639027/). *Nat Commun*. [Basic Science / Preclinical]

• Sabath K (2024). [PMID: 39032489](https://pubmed.ncbi.nlm.nih.gov/39032489/). *Mol Cell*. [Basic Science / Preclinical]