Global Variome shared LOVD

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

Phenotype #0000001272 Individual ID 00002293 Associated disease SLOS Inheritance Unknown Diagnosis/Initial - Diagnosis/Definite - Age/Onset 00y00m01d Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; broad nasal bridge, anteversed nostrils, bi-temporal narrowing, epicanthic folds, bilateral ptosis and a short neck, postaxial polydactyly, 2-3 toe syndactyly, ambiguous female genitalia Biochem cholesterol: 1.3 mmol/l,, 7DHC: 168 mg/l , 8DHC: 222 mg/l Protein - Severity_score - 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 2012-08-08 11:04:36 +02:00 (CEST) Date last edited 2012-08-08 11:51:30 +02:00 (CEST)

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