Global Variome shared LOVD

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

Phenotype #0000001276 Individual ID 00002297 Associated disease SLOS Inheritance Unknown Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; very mild phenotype, seizures, 2-3 toe syndactyly Biochem cholesterol: 3.8 mmol/l, 7DHC: 5 umol/l, 8DHC: 18 umol/l Protein - Severity_score 2 Age/Diagnosis 01y 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 2012-08-08 13:40:03 +02:00 (CEST) Date last edited 2012-10-02 11:33:51 +02:00 (CEST)

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