Global Variome shared LOVD

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Phenotype #0000001007 Individual ID 00002028 Associated disease SLOS Inheritance Familial Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; corpus callosum hypoplasia, polydactyly Biochem cholesterol: 289 ug/ml, 7DHC: 169 ug/ml, 8DHC: 187 ug/ml Protein - Severity_score 45 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 2010-04-21 12:35:07 +02:00 (CEST) Date last edited 2012-07-13 13:26:07 +02:00 (CEST)

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