Global Variome shared LOVD

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

Phenotype #0000001249 Individual ID 00002270 Associated disease SLOS Inheritance Familial Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation Biochem cholesterol: 853 umol/l, 7DHC: 247 umol/l Protein - Severity_score - Age/Diagnosis 00y09m 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 2012-07-31 16:12:07 +02:00 (CEST) Date last edited 2012-10-01 16:22:21 +02:00 (CEST)

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