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Features include always present findings: Epicanthus, Long face, Deeply set eye, and Global developmental delay and others; and common findings: Stage 5 chronic kidney disease, Hearing loss (hearing impairment), Ataxia, and Brain atrophy and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 6 | Global developmental delay, Ataxia, Brain atrophy |
TPRKB function has not been fully characterized.
Galloway-Mowat syndrome 5 is associated with mutations in the TPRKB gene on chromosome 2.
Genetic testing for TPRKB is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 13 always present features, 8 common features.
No clinical trials have been registered for Galloway-Mowat syndrome 5.
4 publications have been identified in PubMed for Galloway-Mowat syndrome 5. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).
Kaur N (2026). [PMID: 41689604](https://pubmed.ncbi.nlm.nih.gov/41689604/). *Neurogenetics*. [Basic Science / Preclinical]
Huang L (2025). [PMID: 40533795](https://pubmed.ncbi.nlm.nih.gov/40533795/). *Cell communication and signaling : CCS*. [Review / Meta-Analysis]
Wei J (2025). [PMID: 40490705](https://pubmed.ncbi.nlm.nih.gov/40490705/). *BMC pediatrics*. [Case Report / Case Series]
Hiraide T (2024). [PMID: 38628357](https://pubmed.ncbi.nlm.nih.gov/38628357/). *Frontiers in pediatrics*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 5:20 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Galloway-Mowat syndrome 5
Kidneys and urinary system |
4 |
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Protein in the urine (proteinuria) |
Head and neck | 3 | Long face, Primary microcephaly, Mandibular prognathia |
Ears | 1 | Hearing loss (hearing impairment) |
Muscles | 1 | Brain atrophy |