Global Variome shared LOVD

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

Phenotype #0000000943 Individual ID 00001964 Associated disease SLOS Inheritance Familial Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; hexadactyly; microcephaly Biochem 7DHC: 156 ug/ml, 8DHC: 45.7 ug/ml Protein - Severity_score 25 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 2010-03-12 13:41:13 +01:00 (CET) Date last edited 2012-07-12 17:09:29 +02:00 (CEST)

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