Phenotype #0000001262

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00002283
Associated disease	SLOS
Inheritance	Unknown
Diagnosis/Initial	-
Diagnosis/Definite	-
Age/Onset	-
Age/Examination	-
Phenotype/Onset	-
Phenotype details	ascertainment clinical presentation; congenital anomalies
Biochem	7DHC: 273 umol/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	2012-08-02 13:41:15 +02:00 (CEST)
Date last edited	2012-10-02 11:17:57 +02:00 (CEST)

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