Phenotype #0000001149

Individual ID 00002170
Associated disease SLOS
Inheritance Unknown
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset 00y06m
Age/Examination -
Phenotype/Onset -
Phenotype details Sunburn-like erythema develops within 10 min of sun exposure and lasts for 24–48 h
Biochem 7DHC: 361 umol/L
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 2012-05-18 14:30:18 +02:00 (CEST)
Date last edited 2012-10-01 15:19:00 +02:00 (CEST)

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