Global Variome shared LOVD

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Phenotype #0000001300 Individual ID 00002321 Associated disease SLOS Inheritance Unknown Diagnosis/Initial - Diagnosis/Definite - Age/Onset 00y00m01d Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; 2-3 toe syndactyly, micrognathia, epicanthal folds Biochem cholesterol: 0,77 mM, 7DHC: 126 mg/l Protein - Severity_score 30 Age/Diagnosis - Owner name István Balogh Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Division of Human Genetics, Innsbruck Date created 2012-12-11 10:03:14 +01:00 (CET) Date last edited 2013-03-08 13:44:26 +01:00 (CET)

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