Global Variome shared LOVD

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

Phenotype #0000001334 Individual ID 00002355 Associated disease SLOS Inheritance Unknown Diagnosis/Initial - Diagnosis/Definite - Age/Onset 00y00m01d Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; growth retardation, cyanosis, large patent ductus arteriosus, microcephaly hypertelorism, low-set ears, micrognathia, hypotonia Biochem cholesterol: 900 umol/l, 7DHC: 885 uol/l Protein - Severity_score 80 Age/Diagnosis - Owner name Division of Human Genetics, Innsbruck Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Division of Human Genetics, Innsbruck Date created 2013-03-13 13:36:32 +01:00 (CET) Date last edited 2013-03-13 13:42:29 +01:00 (CET)

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