Global Variome shared LOVD

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

Phenotype #0000000956 Individual ID 00001977 Associated disease SLOS Inheritance Familial Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; severe Biochem cholesterol: 292 ug/ml, increased cholesterol precursors, 7DHC: 269 ug/ml Protein - Severity_score > 59 Age/Diagnosis 10y 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 2010-03-22 17:36:10 +01:00 (CET) Date last edited 2012-05-16 12:25:50 +02:00 (CEST)

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