Phenotype #0000001320

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00002341
Associated disease	SLOS
Inheritance	Unknown
Diagnosis/Initial	-
Diagnosis/Definite	-
Age/Onset	-
Age/Examination	-
Phenotype/Onset	-
Phenotype details	ascertainment clinical presentation
Biochem	cholesterol: 2.57 mmol/l, 7DHC: 454 umol/l
Protein	-
Severity_score	17
Age/Diagnosis	04y06m
Owner name	Division of Human Genetics, Innsbruck
Database submission license
Created by	Division of Human Genetics, Innsbruck
Date created	2012-12-20 16:56:25 +01:00 (CET)
Date last edited	N/A

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