Global Variome shared LOVD

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

Phenotype #0000001198 Individual ID 00002219 Associated disease SLOS Inheritance Familial Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; poly-/syndactyly, microcephaly, M. Hirschsprung, pyloric stenosis, nuclear cataract Biochem cholesterol: 20 uM, 7DHC: 430 uM, 8DHC: 266 uM Protein - Severity_score - Age/Diagnosis 00y00m01d 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 2012-06-04 16:41:59 +02:00 (CEST) Date last edited 2012-07-13 13:31:06 +02:00 (CEST)

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