Global Variome shared LOVD

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Phenotype #0000001192 Individual ID 00002213 Associated disease SLOS Inheritance Familial Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; ambiguous genitalia, microcephaly, epicanthal folds, a short nose with anteverted nares, micrognathia, postaxial polydactyly of all limbs Biochem cholesterol: 503 ug/ml, 7DHC: 173 ug/ml Protein - Severity_score 45 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 2012-06-04 15:35:27 +02:00 (CEST) Date last edited 2012-10-01 13:51:11 +02:00 (CEST)

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