Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000001080 Individual ID 00002101 Associated disease SLOS Inheritance Familial Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation Biochem cholesterol: 1232 ug/ml, 7DHC: 101.5 ug/ml, 8DHC: 121.9 ug/ml Protein - Severity_score 10 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 2012-04-16 15:01:08 +02:00 (CEST) Date last edited 2012-04-17 16:19:33 +02:00 (CEST)

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