Phenotype #0000001060

Individual ID 00002081
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation
Biochem cholesterol: 810 uM, 7DHC: 407 uM, 8DHC: 220 uM
Protein -
Severity_score 72
Age/Diagnosis -
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 2012-04-16 11:07:25 +02:00 (CEST)
Date last edited 2012-10-01 15:06:21 +02:00 (CEST)

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