Phenotype #0000001324

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00002345
Associated disease	SLOS
Inheritance	Unknown
Diagnosis/Initial	-
Diagnosis/Definite	-
Age/Onset	-
Age/Examination	-
Phenotype/Onset	-
Phenotype details	-
Biochem	cholesterol: 3.60 mmol/l, 7DHC: 134 umol/l
Protein	-
Severity_score	17
Age/Diagnosis	19y
Owner name	Division of Human Genetics, Innsbruck
Database submission license
Created by	Division of Human Genetics, Innsbruck
Date created	2012-12-21 09:42:37 +01:00 (CET)
Date last edited	N/A

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