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Sialuria

Orpha number ORPHA3166
Synonym(s) Sialuria, French type
Prevalence -
Inheritance Autosomal dominant
Age of onset -
ICD-10
  • E77.8
ICD-O -
OMIM
UMLS
  • C2931471
MeSH
  • C537332
MedDRA
  • 10067529
SNOMED CT
  • 238051008
  • 34566007

Summary

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
  • EN (2012)
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