Phenotype #0000001263

Global Variome shared LOVD

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

Individual ID	00002284
Associated disease	SLOS
Inheritance	Unknown
Diagnosis/Initial	-
Diagnosis/Definite	-
Age/Onset	-
Age/Examination	-
Phenotype/Onset	-
Phenotype details	fetus died in utero; ascertainment clinical presentation; congenital anomalies
Biochem	7DHC: 23.7 nmol/l (cultured skin fibroblasts)
Protein	-
Severity_score	-
Age/Diagnosis	-
Owner name	Division of Human Genetics, Innsbruck
Database submission license
Created by	Division of Human Genetics, Innsbruck
Date created	2012-08-02 13:48:14 +02:00 (CEST)
Date last edited	N/A

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