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Adenylosuccinate lyase deficiency

Orpha number ORPHA46
Synonym(s) ADSL deficiency
Adenylosuccinase deficiency
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • E79.8
ICD-O -
OMIM
UMLS
  • C0268126
MeSH
  • C538235
MedDRA -
SNOMED CT
  • 15285008

Summary

An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.


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Detailed information

Clinical genetics review
  • EN (2010)
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