Global Variome shared LOVD

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

Phenotype #0000001375 Individual ID 00002396 Associated disease SLOS Inheritance Unknown Diagnosis/Initial - Diagnosis/Definite - Age/Onset 00y00m01d Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation, died of heart defect; multiple congenital anomalies, died in neonatal period of heart defect Biochem 7DHC: 6.2 mg/dl 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 2013-03-21 17:52:31 +01:00 (CET) Date last edited 2013-03-21 17:56:50 +01:00 (CET)

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