Global Variome shared LOVD

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Phenotype #0000001329 Individual ID 00002350 Associated disease SLOS Inheritance Familial Diagnosis/Initial - Diagnosis/Definite - Age/Onset 00y00m01d Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; classical SLOS phenotype, oesophageal achalasia, normal plasma concentrations of cholesterol, only slight elevation of 7-DHC and 8-DHC Biochem cholesterol: 96 mg/dl, 7DHC: 0,219 mg/dl, 8DHC: 0,303 mg/dl Protein - Severity_score - 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 2012-12-21 11:13:20 +01:00 (CET) Date last edited N/A

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