Global Variome shared LOVD

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Phenotype #0000001347 Individual ID 00002368 Associated disease SLOS Inheritance Unknown Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment unknown Biochem cholesterol: 8.0 mg/dl, 7DHC: 14.3 mg/dl, 8DHC: 9.2 mg/dl Protein - Severity_score 72 Age/Diagnosis - Owner name Division of Human Genetics, Innsbruck Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Division of Human Genetics, Innsbruck Date created 2013-03-15 13:46:26 +01:00 (CET) Date last edited N/A

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