Phenotype #0000001216

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00002237
Associated disease	SLOS
Inheritance	Familial
Diagnosis/Initial	-
Diagnosis/Definite	-
Age/Onset	00y02m
Age/Examination	-
Phenotype/Onset	-
Phenotype details	ascertainment clinical presentation; Develops sunburn-like redness on sun-exposed skin within 10–30 min of exposure, even on cloudy days. Redness lasts for 8–12 h
Biochem	7DHC: 706 umol
Protein	-
Severity_score	-
Age/Diagnosis	-
Owner name	Division of Human Genetics, Innsbruck
Database submission license
Created by	Division of Human Genetics, Innsbruck
Date created	2012-06-05 11:43:31 +02:00 (CEST)
Date last edited	2012-06-19 15:04:40 +02:00 (CEST)

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