Global Variome shared LOVD

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

Phenotype #0000001254 Individual ID 00002275 Associated disease SLOS Inheritance Unknown Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation Biochem cholesterol: 1.03 mmol/l, 7DHC: 0.53 mmol/l, 8DHC: 0.29 mmol/l Protein - Severity_score - 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 2012-08-01 12:02:37 +02:00 (CEST) Date last edited 2012-08-06 11:30:10 +02:00 (CEST)

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