Phenotype #0000001274

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00002295
Associated disease	SLOS
Inheritance	Unknown
Diagnosis/Initial	-
Diagnosis/Definite	-
Age/Onset	-
Age/Examination	-
Phenotype/Onset	-
Phenotype details	ascertainment clinical presentation; very mild phenotype: 2-3 toe syndactyly, hypospadias
Biochem	cholesterol: 3.1 mmol/l, 7DHC: 8.6 umol/l, 8DHC: 20.9 umil(l
Protein	-
Severity_score	2
Age/Diagnosis	-
Owner name	Division of Human Genetics, Innsbruck
Database submission license
Created by	Division of Human Genetics, Innsbruck
Date created	2012-08-08 12:52:22 +02:00 (CEST)
Date last edited	2012-10-02 11:26:36 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.