Phenotype #0000001247

Individual ID 00002268
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation
Biochem cholesterol: 509 umol/l, 7DHC: 278 umol/l
Protein -
Severity_score -
Age/Diagnosis 04y09m
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 16:03:11 +02:00 (CEST)
Date last edited 2012-10-01 16:16:29 +02:00 (CEST)

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