Phenotype #0000001046

Individual ID 00002067
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation
Biochem cholesterol: 830 ug/ml, 7DHC: 31 ug/ml, 8DHC: 11 ug/ml
Protein -
Severity_score 20
Age/Diagnosis >10y
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 2010-05-05 10:37:23 +02:00 (CEST)
Date last edited 2012-05-18 12:02:02 +02:00 (CEST)

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