Phenotype #0000001012

Individual ID 00002033
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; no 2-3 toe syndactyly
Biochem cholesterol: 531 ug/ml, 7DHC: 485 ug/ml, 8DHC: 406 ug/ml
Protein -
Severity_score 25
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 2010-04-21 14:38:18 +02:00 (CEST)
Date last edited 2012-05-18 11:40:01 +02:00 (CEST)

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