Phenotype #0000001251

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00002272
Associated disease	SLOS
Inheritance	Unknown
Diagnosis/Initial	-
Diagnosis/Definite	-
Age/Onset	-
Age/Examination	-
Phenotype/Onset	-
Phenotype details	ascertainment clinical presentation
Biochem	cholesterol: 1.50 mmol/l, 7DHC: 0.31 mmol/l, 8DHC: 0.59 mmol/l
Protein	-
Severity_score	-
Age/Diagnosis	-
Owner name	Division of Human Genetics, Innsbruck
Database submission license
Created by	Division of Human Genetics, Innsbruck
Date created	2012-08-01 11:50:37 +02:00 (CEST)
Date last edited	2012-08-06 11:28:28 +02:00 (CEST)

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