Global Variome shared LOVD

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Phenotype #0000155297 Individual ID 00207520 Associated disease SGBS2 Phenotype details Coarse facial features and contractures of the fingers. Autopsy showed cystic dilation of the intrahepatic ducts, a large cystic structure in the hilar region of the liver, and mild hydronephrosis. There were no obvious brain malformations. ALP level not applicable. Diagnosis/Initial - Inheritance Familial, X-linked Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2018-11-23 18:06:32 +01:00 (CET) Date last edited N/A

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