Phenotype #0000000949

Individual ID 00001970
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation
Biochem cholesterol: 280 ug/ml, 7DHC: 440 ug/ml
Protein -
Severity_score -
Age/Diagnosis 02y
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 2010-03-15 16:00:29 +01:00 (CET)
Date last edited 2012-04-19 16:55:04 +02:00 (CEST)

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