Global Variome shared LOVD

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Phenotype #0000001331 Individual ID 00002352 Associated disease SLOS Inheritance Unknown Diagnosis/Initial - Diagnosis/Definite - Age/Onset 00y00m01d Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; hypertelorism, low-set ears, micrognathia, microcephaly, hypotonia, 2-3 toe syndactyly Biochem cholesterol: 1100 umol/l, 7DHC: 259 umol/l Protein - Severity_score 35 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 2013-03-11 16:28:34 +01:00 (CET) Date last edited 2013-03-11 16:29:57 +01:00 (CET)

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