Phenotype #0000001215

Individual ID 00002236
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset 00y01m
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; Deep red sunburn-like reaction on exposed skin within 30 min of exposure, which lasts for up to 24 h. He goes outside but always covered by clothing. Sensitive to winter sun
Biochem 7DHC: 431 umol
Protein -
Severity_score -
Age/Diagnosis -
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 2012-06-05 11:40:34 +02:00 (CEST)
Date last edited 2012-06-06 11:28:01 +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.