Phenotype #0000001038

Individual ID 00002059
Associated disease SLOS
Inheritance Unknown
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details -
Biochem cholesterol: 1171 ug/ml, 7DHC: 59 ug/ml, 8DHC: 51 ug/ml
Protein -
Severity_score 9
Age/Diagnosis 18y
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 11:29:49 +02:00 (CEST)
Date last edited 2012-05-07 11:41:33 +02:00 (CEST)

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