Global Variome shared LOVD

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Phenotype #0000001009 Individual ID 00002030 Associated disease SLOS Inheritance Familial Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; seizures, head circumference <3 perc., cleft hard palate, clubfoot, 2-3 toe syndactyly Biochem cholesterol: 123 ug/ml, 7DHC: 50 ug/ml Protein - Severity_score 25 Age/Diagnosis 00y10m 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 13:57:26 +02:00 (CEST) Date last edited 2012-05-18 11:36:09 +02:00 (CEST)

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