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Features include always present findings: Decreased body weight, Anteverted nares, Short stature, and Sleep disturbance and others; and common findings: Epicanthus, Nephrotic syndrome, Downturned corners of mouth, and Wide mouth and others. 31 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Growth and development | 4 | Short stature, Decreased response to growth hormone stimulation test, Intrauterine growth retardation |
WDR4 function has not been fully characterized.
Galloway-Mowat syndrome 6 is associated with mutations in the WDR4 gene on chromosome 21.
Genetic testing for WDR4 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 17 always present features, 10 common features.
No clinical trials have been registered for Galloway-Mowat syndrome 6.
8 publications have been identified in PubMed for Galloway-Mowat syndrome 6. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (38%), and Case Report / Case Series (13%).
Porowski M (2026). [PMID: 41761595](https://pubmed.ncbi.nlm.nih.gov/41761595/). *Am J Case Rep*. [Case Report / Case Series]
Huang L (2025). [PMID: 40533795](https://pubmed.ncbi.nlm.nih.gov/40533795/). *Cell Commun Signal*. [Review / Meta-Analysis]
Wei J (2025). [PMID: 40490705](https://pubmed.ncbi.nlm.nih.gov/40490705/). *BMC Pediatr*. [Review / Meta-Analysis]
Lin B (2025). [PMID: 41292047](https://pubmed.ncbi.nlm.nih.gov/41292047/). *Adipocyte*. [Basic Science / Preclinical]
Yang YL (2025). [PMID: 40688758](https://pubmed.ncbi.nlm.nih.gov/40688758/). *Neurol Genet*. [Review / Meta-Analysis]
Ona Chuquimarca SM (2024). [PMID: 39639027](https://pubmed.ncbi.nlm.nih.gov/39639027/). *Nat Commun*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 10:15 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Galloway-Mowat syndrome 6
Brain and nerves | 4 | Seizure, Intellectual disability, Delayed speech and language development |
Kidneys and urinary system | 3 | Nephrotic syndrome, Focal segmental glomerulosclerosis, Protein in the urine (proteinuria) |
Muscles | 2 | Shrinkage of the cerebellum (cerebellar atrophy), Cerebellar vermis atrophy |
Head and neck | 2 | High palate, Microcephaly |
Hormones | 2 | Hypothyroidism, Decreased response to growth hormone stimulation test |
Bones and joints | 1 | Delayed skeletal maturation |
Arms and legs | 1 | Clinodactyly of the 5th finger |
Sabath K (2024). [PMID: 39032489](https://pubmed.ncbi.nlm.nih.gov/39032489/). *Mol Cell*. [Basic Science / Preclinical]
Teng H (2024). [PMID: 39063131](https://pubmed.ncbi.nlm.nih.gov/39063131/). *Int J Mol Sci*. [Basic Science / Preclinical]