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Features include: Elevated urinary cytidine and Elevated urinary uridine level.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 2 | Elevated urinary cytidine, Elevated urinary uridine level |
SLC28A1 function has not been fully characterized.
Uridine-cytidineuria is associated with mutations in the SLC28A1 gene on chromosome 15.
Genetic testing for SLC28A1 is available. Testing is considered confirmatory for diagnosis.
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:43 AM UTC
Online Mendelian Inheritance in Man