Global Variome shared LOVD

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

Phenotype #0000001332 Individual ID 00002353 Associated disease SLOS Inheritance Unknown Diagnosis/Initial - Diagnosis/Definite - Age/Onset 00y00m01d Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; Growth retardation, epicanthal folds, high arched palate, micrognathia, chryptochidism, 2-3 toe syndactyly, profund hypotonia Biochem cholesterol: 800 umol/l, 7DHC: 660 umol/l Protein - Severity_score 75 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 2013-03-11 16:35:29 +01:00 (CET) Date last edited 2013-03-13 12:01:53 +01:00 (CET)

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