Phenotype #0000001009

Global Variome shared LOVD

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

Individual ID	00002030
Associated disease	SLOS
Inheritance	Familial
Diagnosis/Initial	-
Diagnosis/Definite	-
Age/Onset	-
Age/Examination	-
Phenotype/Onset	-
Phenotype details	ascertainment clinical presentation; seizures, head circumference <3 perc., cleft hard palate, clubfoot, 2-3 toe syndactyly
Biochem	cholesterol: 123 ug/ml, 7DHC: 50 ug/ml
Protein	-
Severity_score	25
Age/Diagnosis	00y10m
Owner name	Division of Human Genetics, Innsbruck
Database submission license
Created by	Division of Human Genetics, Innsbruck
Date created	2010-04-21 13:57:26 +02:00 (CEST)
Date last edited	2012-05-18 11:36:09 +02:00 (CEST)

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