Phenotype #0000001209

Individual ID 00002230
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; Syndactyly, failure to thrive
Biochem cholesterol: 1456 uM, 7DHC: 749 uM, 8DHC: 543 uM
Protein -
Severity_score -
Age/Diagnosis 00y02m
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 2012-06-04 18:11:36 +02:00 (CEST)
Date last edited N/A

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