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Synonym(s) Sialuria, French type
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Infancy
  • E77.8
  • C2931471
  • C537332
  • 10067529


Disease definition

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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Detailed information

Summary information
Clinical genetics review
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