Global Variome shared LOVD

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

Phenotype #0000001252 Individual ID 00002273 Associated disease SLOS Inheritance Unknown Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation Biochem cholesterol: 0.67 mmol/l, 7DHC: 0.25 mmol/l, 8DHC: 0.56 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 11:56:50 +02:00 (CEST) Date last edited 2012-08-06 11:29:13 +02:00 (CEST)

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