Global Variome shared LOVD

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

Phenotype #0000001353 Individual ID 00002374 Associated disease SLOS Inheritance Unknown Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment unknown Biochem cholesterol: 94.8 mg/dl, 7DHC: 4.8 mg/dl, 8DHC: 2.6 mg/dl Protein - Severity_score 6 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 2013-03-15 14:28:44 +01:00 (CET) Date last edited N/A

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