Global Variome shared LOVD

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Phenotype #0000001383 Individual ID 00002404 Associated disease SLOS Inheritance Unknown Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; multiple congenital anomalies, cataract Biochem 7DHC: 5.5 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 2013-03-22 14:40:14 +01:00 (CET) Date last edited N/A

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