Global Variome shared LOVD

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

Phenotype #0000001313 Individual ID 00002334 Associated disease SLOS Inheritance Unknown Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; microcephaly, prenatal growth retardation, characteristic facial appearance, 2-3 toe syndactyly, sexual ambiguity Biochem cholesterol: 55 mg/dl, 7DHC: 13.6 mg/dl Protein - Severity_score - Age/Diagnosis 10y 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 2012-12-20 16:05:24 +01:00 (CET) Date last edited N/A

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