Phenotype #0000001006

Individual ID 00002027
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; seizures, bifid uvula, minimal 2-3 toe syndactyly, pyloric stenosis
Biochem cholesterol: 590 ug/ml, 7DHC: 291 uMol/l
Protein -
Severity_score 15
Age/Diagnosis 01y
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 2010-04-15 15:31:57 +02:00 (CEST)
Date last edited 2012-09-28 12:18:05 +02:00 (CEST)

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