Phenotype #0000001010

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00002031
Associated disease	SLOS
Inheritance	Familial
Diagnosis/Initial	-
Diagnosis/Definite	-
Age/Onset	-
Age/Examination	-
Phenotype/Onset	-
Phenotype details	ascertainment clinical presentation; 2-3 toe syndactyly
Biochem	cholesterol: 251 ug/ml, 7DHC: 171 ug/ml, 8DHC: 123 ug/ml
Protein	-
Severity_score	35
Age/Diagnosis	-
Owner name	Division of Human Genetics, Innsbruck
Database submission license
Created by	Division of Human Genetics, Innsbruck
Date created	2010-04-21 14:23:34 +02:00 (CEST)
Date last edited	2012-09-28 12:30:52 +02:00 (CEST)

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