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Alagille syndrome due to 20p12 microdeletion

Orpha number ORPHA261600
Synonym(s) Alagille syndrome due to del(20)(p12)
Alagille syndrome due to monosomy 20p12
Alagille-Watson syndrome due to monosomy 20p12
Arteriohepatic dysplasia due to monosomy 20p12
Syndromic bile duct paucity due to monosomy 20p12
Prevalence Unknown
Inheritance -
Age of onset -
ICD-10
  • Q44.7
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

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

Guidance for genetic testing
  • EN (2013,pdf)
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