Global Variome shared LOVD

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

Phenotype #0000001307 Individual ID 00002328 Associated disease SLOS Inheritance Unknown Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; microcephaly, characteristic facial appearance, cleft palate, 2-3 toe syndactyly Biochem cholesterol: 48 mg/dl, 7DHC: 15.4 mg/dl Protein - Severity_score - Age/Diagnosis 19y 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 15:27:59 +01:00 (CET) Date last edited 2012-12-20 15:51:47 +01:00 (CET)

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