Phenotype #0000001199

Individual ID 00002220
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; complete sex reversal, horse-shoe kidney, cardiac defect, poly-/syndactyly
Biochem cholesterol: decreased in post mortem tissue, 7DHC: elevated in post mortem tissue
Protein -
Severity_score -
Age/Diagnosis 00y00m01d
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 2012-06-04 16:52:16 +02:00 (CEST)
Date last edited 2012-07-13 13:28:24 +02:00 (CEST)

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