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Biliary tract malformation - renal failure

Orpha number ORPHA3438
Synonym(s) Cholestatic jaundice - renal tubular insufficiency
Lutz-Richner-Landolt syndrome
Prevalence -
Inheritance -
Age of onset -
ICD-10 -
OMIM -
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

This syndrome is characterised by renal tubular insufficiency, cholestatic jaundice, predisposition to infection, failure to thrive and multiple congenital anomalies. It has been described in six male infants from three families, two of which were consanguineous. Transmission is either autosomal or X-linked recessive.


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