Phenotype #0000001381

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00002402
Associated disease	SLOS
Inheritance	Unknown
Diagnosis/Initial	-
Diagnosis/Definite	-
Age/Onset	-
Age/Examination	-
Phenotype/Onset	-
Phenotype details	ascertainment clinical presentation; multiple congenital anomalies, characteristic facial features, slow weight gain, mental retardation
Biochem	7DHC: 20.5 gm/dl
Protein	-
Severity_score	-
Age/Diagnosis	01y
Owner name	Division of Human Genetics, Innsbruck
Database submission license
Created by	Division of Human Genetics, Innsbruck
Date created	2013-03-22 14:31:00 +01:00 (CET)
Date last edited	2013-03-22 14:50:24 +01:00 (CET)

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