Global Variome shared LOVD

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Phenotype #0000001184 Individual ID 00002205 Associated disease SLOS Inheritance Familial Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; poorly formed ears, ambiguous genitalia (male) Biochem cholesterol: 432 ug/ml, 7DHC: 111 ug/ml Protein - Severity_score 17 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 14:37:00 +02:00 (CEST) Date last edited 2012-10-01 13:38:57 +02:00 (CEST)

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