Phenotype #0000001244

Individual ID 00002265
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation
Biochem cholesterol: 1373 umol/l, 7DHC: 1261 umol/l
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 2012-07-31 15:40:52 +02:00 (CEST)
Date last edited 2012-08-06 11:35:40 +02:00 (CEST)

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