Global Variome shared LOVD

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

Phenotype #0000000988 Individual ID 00002009 Associated disease SLOS Inheritance Familial Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; head circumference < -3 SD, ptosis, anteverted nares, 2-3 toe syndactyly, clubfoot, pyloric stenosis Biochem abnormal sterols, cholesterol: 386 ug/ml, 7DHC: 76 ug/ml, 8DHC: 66 ug/ml Protein - Severity_score - Age/Diagnosis 14y 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 2010-03-29 17:46:43 +02:00 (CEST) Date last edited 2012-05-18 11:29:22 +02:00 (CEST)

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