Global Variome shared LOVD

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Phenotype #0000001186 Individual ID 00002207 Associated disease SLOS Inheritance Familial Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; seizures of unknown cause in the first 5 months of life,microcephaly, diffuse osteopenia and skeletal anomalies Biochem cholesterol: 280 ug/ml, 7DHC: 254 ug/ml Protein - Severity_score 56 Age/Diagnosis 00y00m17d 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 14:46:48 +02:00 (CEST) Date last edited 2012-10-01 13:42:01 +02:00 (CEST)

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