GTR Home > Conditions/Phenotypes > Sialuria

Summary

Excerpted from the GeneReview: Sialuria
Sialuria is characterized by variable and transient signs and symptoms, especially in infancy. These include slightly flat and coarse facies, prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, and episodes of gastroenteritis, dehydration, and transient failure to thrive. Mild developmental delay and hypotonia have been neither consistent nor permanent. Learning difficulty and seizures have been observed later in childhood. Sialuria has been detected retrospectively in an adult without subjective signs or complaints of disease. The long-term outcome of the disorder is unknown to date.

Available tests

26 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: DMRV, GLCNE, IBM2, NM, Uae1, GNE
    Summary: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

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