Phenotype #0000000956

Individual ID 00001977
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; severe
Biochem cholesterol: 292 ug/ml, increased cholesterol precursors, 7DHC: 269 ug/ml
Protein -
Severity_score > 59
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 2010-03-22 17:36:10 +01:00 (CET)
Date last edited 2012-05-16 12:25:50 +02:00 (CEST)

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