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Synonym(s) Sialuria, French type
Prevalence -
Inheritance Autosomal dominant
Age of onset -
  • E77.8
  • C2931471
  • C537332
  • 10067529


Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

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Clinical genetics review
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