Global Variome shared LOVD

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

Phenotype #0000001304 Individual ID 00002325 Associated disease SLOS Inheritance Unknown Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; inguinal hernia left, bilateral incomplete 2-3 toe syndactyly, hypospadias, bifid scrotum, atrial septal defect Biochem cholesterol: 1,47 mM, 7DHC: 274 mg/l Protein - Severity_score 20 Age/Diagnosis - Owner name István Balogh Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Division of Human Genetics, Innsbruck Date created 2012-12-11 10:33:26 +01:00 (CET) Date last edited 2013-03-11 11:00:17 +01:00 (CET)

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