Phenotype #0000001030

Individual ID 00002051
Associated disease SLOS
Inheritance Unknown
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details -
Biochem abnormal sterols, cholesterol: 1150 mg/l, 7DHC: 28 mg/l, 8DHC: 94 mg/l
Protein -
Severity_score 9
Age/Diagnosis 00y00m05d
Owner name Division of Human Genetics, Innsbruck
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Division of Human Genetics, Innsbruck
Date created 2010-04-27 09:43:35 +02:00 (CEST)
Date last edited 2012-10-02 11:25:06 +02:00 (CEST)

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