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Features include always present findings: Stage 5 chronic kidney disease, Microcephaly, Delayed CNS myelination, and Protein in the urine (proteinuria) and others; and common findings: Arachnodactyly, Brain shrinkage (cerebral atrophy), Shrinkage of the cerebellum (cerebellar atrophy), and Low muscle tone (hypotonia) and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 3 | Microcephaly, Secondary microcephaly, Primary microcephaly |
YRDC function has not been fully characterized.
Galloway-Mowat syndrome 10 is associated with mutations in the YRDC gene on chromosome 1.
Genetic testing for YRDC is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 6 always present features, 9 common features.
No clinical trials have been registered for Galloway-Mowat syndrome 10.
5 publications have been identified in PubMed for Galloway-Mowat syndrome 10. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (40%), and Basic Science / Preclinical (20%).
Wei B (2026). [PMID: 41782252](https://pubmed.ncbi.nlm.nih.gov/41782252/). *Ophthalmic genetics*. [Case Report / Case Series]
Torra R (2025). [PMID: 40115110](https://pubmed.ncbi.nlm.nih.gov/40115110/). *Clinical kidney journal*. [Review / Meta-Analysis]
Yari A (2025). [PMID: 39661309](https://pubmed.ncbi.nlm.nih.gov/39661309/). *Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology*. [Case Report / Case Series]
Huang L (2025). [PMID: 40533795](https://pubmed.ncbi.nlm.nih.gov/40533795/). *Cell communication and signaling : CCS*. [Review / Meta-Analysis]
Teng H (2024). [PMID: 39063131](https://pubmed.ncbi.nlm.nih.gov/39063131/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:48 AM UTC
Online Mendelian Inheritance in Man
Common questions about Galloway-Mowat syndrome 10
Muscles | 3 | Brain shrinkage (cerebral atrophy), Shrinkage of the cerebellum (cerebellar atrophy), Low muscle tone (hypotonia) |
Kidneys and urinary system | 2 | Stage 5 chronic kidney disease, Protein in the urine (proteinuria) |
Brain and nerves | 2 | Brain shrinkage (cerebral atrophy), Sudden, brief involuntary muscle jerks (myoclonus) |
Arms and legs | 1 | Podocyte foot process effacement |
Hormones | 1 | Congenital hypothyroidism |
Pregnancy and birth | 1 | Congenital hypothyroidism |
Age of onset: infancy, at birth.