Phenotype #0000000963

Individual ID 00001984
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; 2-3 toe syndactyly; microcepahly,
Biochem cholesterol: 815 uM, 7DHC: 662 uM
Protein -
Severity_score 40
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 2010-03-22 18:58:16 +01:00 (CET)
Date last edited 2012-05-18 10:59:23 +02:00 (CEST)

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