Phenotype #0000001033

Individual ID 00002054
Associated disease SLOS
Inheritance Unknown
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; mild
Biochem cholesterol: 563 mg/dl, 7DHC: 84 mg/dl, 8DHC: 82 mg/dl
Protein -
Severity_score 6
Age/Diagnosis 00y00m02d
Owner name Division of Human Genetics, Innsbruck
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Division of Human Genetics, Innsbruck
Date created 2010-04-27 10:25:54 +02:00 (CEST)
Date last edited 2012-04-13 14:41:51 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.