Phenotype #0000000973

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00001994
Associated disease	SLOS
Inheritance	Familial
Diagnosis/Initial	-
Diagnosis/Definite	-
Age/Onset	-
Age/Examination	-
Phenotype/Onset	-
Phenotype details	ascertainment clinical presentation; seizures, 2-3 toe syndactyly, simple cystic kidney disease
Biochem	very high 7-DHC
Protein	-
Severity_score	15
Age/Diagnosis	35y
Owner name	Division of Human Genetics, Innsbruck
Database submission license
Created by	Division of Human Genetics, Innsbruck
Date created	2010-03-24 18:03:13 +01:00 (CET)
Date last edited	2012-07-12 16:16:02 +02:00 (CEST)

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