Global Variome shared LOVD

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

Phenotype #0000000983 Individual ID 00002004 Associated disease SLOS Inheritance Familial Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details diagnosis fetal; ascertainment clinical presentation; 2-3 toe syndactyly Biochem cholesterol: 200 ug/ml, 7DHC: 168 ug/ml, 8DHC: 85 ug/ml Protein - Severity_score 40 Age/Diagnosis <00y00m00d 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 2010-03-25 18:20:02 +01:00 (CET) Date last edited 2012-05-18 11:23:41 +02:00 (CEST)

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