Global Variome shared LOVD

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Phenotype #0000001075 Individual ID 00002096 Associated disease SLOS Inheritance Familial Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation Biochem cholesterol: 14.6 mg/dl, 7DHC: 21.6 mg/dl, 8DHC: 8.96 mg/dl Protein - Severity_score 55 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 2012-04-16 14:14:54 +02:00 (CEST) Date last edited 2012-05-18 12:14:44 +02:00 (CEST)

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