Phenotype #0000001064

Individual ID 00002085
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation
Biochem cholesterol: 6 mg/dl, 7DHC: 3.5 mg/dl, 8DHC: 1.3 mg/dl
Protein -
Severity_score 30
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 11:33:37 +02:00 (CEST)
Date last edited 2012-05-18 11:53:11 +02:00 (CEST)

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