Phenotype #0000001368

Individual ID 00002389
Associated disease SLOS
Inheritance Unknown
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset 00y00m01d
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; recognizable facial appearance, 2-3 toe syndactyly, heart defect, failure to thrive, mental retardation
Biochem 7DHC: 16.1 mg/dl
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 2013-03-21 16:30:04 +01:00 (CET)
Date last edited 2013-03-22 14:53:34 +01:00 (CET)

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