Global Variome shared LOVD

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

Phenotype #0000001034 Individual ID 00002055 Associated disease SLOS Inheritance Unknown Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; mild Biochem abnormal sterols, cholesterol: 1272 mg/dl, 7DHC: 259 mg/dl, 8DHC: 134 mg/dl Protein - Severity_score mild Age/Diagnosis 35y 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 2010-04-27 10:47:51 +02:00 (CEST) Date last edited 2012-06-19 14:57:54 +02:00 (CEST)

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