Global Variome shared LOVD

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Phenotype #0000001173 Individual ID 00002194 Associated disease SLOS Inheritance Familial Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation Biochem cholesterol: 1250 ug/ml, 7DHC: 48 ug/ml, 8DHC: 80 ug/ml Protein - Severity_score 21 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 2012-06-04 12:51:33 +02:00 (CEST) Date last edited N/A

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