Global Variome shared LOVD

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

Phenotype #0000001321 Individual ID 00002342 Associated disease SLOS Inheritance Unknown Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation Biochem cholesterol: 1.30 mmol/l, 7DHC: 367 umol/l Protein - Severity_score 19 Age/Diagnosis 12y 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 2012-12-21 09:28:54 +01:00 (CET) Date last edited 2012-12-21 09:29:22 +01:00 (CET)

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