Phenotype #0000001261

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00002282
Associated disease	SLOS
Inheritance	Familial
Diagnosis/Initial	-
Diagnosis/Definite	-
Age/Onset	-
Age/Examination	-
Phenotype/Onset	-
Phenotype details	ascertainment clinical presentation; microcephaly, microganthia, cleft palate, cataract, 2-3 toe syndactyly, multiple cardiac anomalies,
Biochem	cholesterol: 0.017 mmol/l, 7DHC: 0.60 mmol/l, 8DHC: 0.33 mmol(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	2012-08-01 14:22:34 +02:00 (CEST)
Date last edited	N/A

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