Global Variome shared LOVD

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

Phenotype #0000001345 Individual ID 00002366 Associated disease SLOS Inheritance Familial Diagnosis/Initial - Diagnosis/Definite - Age/Onset 00y00m01d Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; trisomy 13, broad nasal bridge, right anotia, left microtia, bilateral microphthalmia, corneal clouding, postaxial polydactyly, 2-3 toe syndactyly Biochem cholesterol: 45 mg/dl, 7DHC: 0.4 mg/dl, 8DHC: 0,32 mg/dl 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 2013-03-15 13:12:07 +01:00 (CET) Date last edited N/A

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