Phenotype #0000000948

Individual ID 00001969
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details 2-3 toe syndactyly
Biochem cholesterol: 115.2 ug/ml, 7DHC: 77 ug/ml, 8DHC: 100 ug/ml
Protein -
Severity_score -
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 2010-03-15 15:45:13 +01:00 (CET)
Date last edited 2012-07-12 16:15:01 +02:00 (CEST)

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